mal￭ absorption
mal￭ absorption is a state arising from ab￭ normality in absorption of food nutrients across the gastro￭ intest￭ inal gi tract impairment can be of single or multiple nutrients depending on the ab￭ normality this may lead to malnutrition and a variety of ana￭ emi￭ as
xx male syndrome
xx male syndrome also called de la chap￭ elle syndrome for albert de la chap￭ elle who characterized it in 1972 is a rare sex chro￭ mo￭ som￭ al disorder usually it is caused by unequal crossing over between x and y chro￭ mo￭ som￭ es during me￭ i￭ osis in the father which results in the x chro￭ mo￭ some containing the normally male s￭ ry gene when this x combines with a normal x from the mother during fertili￭ zation the result is an xx male this syndrome occurs in approximately four or five in 100 000 individuals making it less common than k￭ lin￭ ef￭ el￭ ter syndrome
spon￭ dy￭ li￭ tis
spon￭ dy￭ li￭ tis is an infl￭ amm￭ ation of the verte￭ bra it is a form of spon￭ dyl￭ opathy in many cases spon￭ dy￭ li￭ tis involves one or more vertebr￭ al joints as well which itself is called spon￭ dy￭ lar￭ thri￭ tis
bar￭ ra￭ quer – sim￭ ons syndrome
bar￭ ra￭ quer – sim￭ ons syndrome or acquired partial li￭ po￭ dy￭ stro￭ phy cephal￭ o￭ thor￭ ac￭ ic li￭ po￭ dy￭ stro￭ phy and progressive li￭ po￭ dy￭ stro￭ phy is a rare form of li￭ po￭ dy￭ stro￭ phy which usually first affects the head and then spreads to the thor￭ ax it is named for luis bar￭ ra￭ quer ro￭ vir￭ alta 18￭ 55 – 19￭ 28 a spanish physician and arthur sim￭ ons 18￭ 79 – 19￭ 42 a german physician some evidence links it to lm￭ nb 2
lo￭ bec￭ tomy
lo￭ bec￭ tomy means surgical exc￭ ision of a lo￭ be this may refer to a lo￭ be of the lung a lo￭ be of the thyro￭ id hem￭ i￭ thyro￭ i￭ dec￭ tomy or a lo￭ be of the brain as in an￭ terior temporal lo￭ bec￭ tomy
ar￭ ach￭ no￭ pho￭ bia
cholera
cholera is an infection of the small intest￭ ine by some strains of the bacter￭ ium vi￭ bri￭ o ch￭ oler￭ ae symptoms may range from none to mild to severe the classic symptom is large amounts of wat￭ ery diarr￭ hea that lasts a few days v￭ om￭ iting and muscle cram￭ ps may also occur diarr￭ hea can be so severe that it leads within hours to severe dehydr￭ ation and electro￭ ly￭ te imbalance this may result in sun￭ ken eyes cold skin decreased skin el￭ as￭ tic￭ ity and wr￭ ink￭ ling of the hands and feet the dehydr￭ ation may result in the skin turning blu￭ ish symptoms start two hours to five days after exposure
cholera is an infection of the small intest￭ ine by some strains of the bacter￭ ium vi￭ bri￭ o ch￭ oler￭ ae symptoms may range from none to mild to severe the classic symptom is large amounts of wat￭ ery diarr￭ hea that lasts a few days v￭ om￭ iting and muscle cram￭ ps may also occur diarr￭ hea can be so severe that it leads within hours to severe dehydr￭ ation and electro￭ ly￭ te imbalance this may result in sun￭ ken eyes cold skin decreased skin el￭ as￭ tic￭ ity and wr￭ ink￭ ling of the hands and feet the dehydr￭ ation may result in the skin turning blu￭ ish symptoms start two hours to five days after exposure cholera is caused by a number of types of vi￭ bri￭ o ch￭ oler￭ ae with some types producing more severe disease than others it is spread mostly by unsafe water and unsafe food that has been contaminated with human f￭ ec￭ es containing the bacteria under￭ cooked seaf￭ ood is a common source humans are the only animal affected risk factors for the disease include poor sanitation not enough clean drinking water and poverty there are concerns that rising sea levels will increase rates of disease cholera can be diagnosed by a sto￭ ol test a rapid di￭ p￭ stick test is available but is not as accurate prevention involves improved sanitation and access to clean water cholera vaccines that are given by mouth provide reasonable protection for about six months they have the added benefit of protecting against another type of diarr￭ hea caused by e coli the primary treatment is oral re￭ hydr￭ ation therapy — the replacement of fluids with slightly sweet and sal￭ ty solutions rice based solutions are preferred zinc supplem￭ entation is useful in children in severe cases intra￭ ven￭ ous fluids such as r￭ inger s lact￭ ate may be required and antibiotics may be beneficial testing to see which antibiotic the cholera is susceptible to can help guide the choice cholera affects an estimated 3 – 5 million people worldwide and causes 58 000 – 130 000 deaths a year as of 2010 while it is currently classified as a pandemic it is rare in the developed world children are mostly affected cholera occurs as both outbreaks and chronically in certain areas areas with an ongoing risk of disease include africa and south east asia while the risk of death among those affected is usually less than 5 it may be as high as 50 among some groups who do not have access to treatment historical descriptions of cholera are found as early as the 5 th century bc in san￭ sk￭ r￭ it the study of cholera by john snow between 18￭ 49 and 18￭ 54 led to significant advances in the field of epidemiology
infection
infection is the invasion of an organism s body tissues by disease causing agents their multiplication and the reaction of host tissues to these organisms and the toxins they produce infectious disease also known as transmissible disease or communicable disease is illness resulting from an infection infections are caused by infectious agents including viruses viro￭ ids pri￭ ons bacteria nemato￭ des such as par￭ asi￭ tic round￭ worms and pin￭ worms ar￭ thro￭ pods such as tic￭ ks mit￭ es fle￭ as and lic￭ e fun￭ gi such as ring￭ worm and other macro￭ parasites such as ta￭ pe￭ worms and other hel￭ min￭ ths
infection is the invasion of an organism s body tissues by disease causing agents their multiplication and the reaction of host tissues to these organisms and the toxins they produce infectious disease also known as transmissible disease or communicable disease is illness resulting from an infection infections are caused by infectious agents including viruses viro￭ ids pri￭ ons bacteria nemato￭ des such as par￭ asi￭ tic round￭ worms and pin￭ worms ar￭ thro￭ pods such as tic￭ ks mit￭ es fle￭ as and lic￭ e fun￭ gi such as ring￭ worm and other macro￭ parasites such as ta￭ pe￭ worms and other hel￭ min￭ ths hosts can fight infections using their immune system mammalian hosts react to infections with an in￭ nate response often involving infl￭ amm￭ ation followed by an adap￭ tive response specific medications used to treat infections include antibiotics anti￭ vir￭ als anti￭ fun￭ g￭ als anti￭ proto￭ zo￭ als and anti￭ hel￭ min￭ th￭ ics infectious diseases resulted in 9 2 million deaths in 2013 about 17 of all deaths the branch of medicine that focuses on infections is referred to as infectious disease
typ￭ ho￭ id fever
typ￭ ho￭ id fever also known simply as typ￭ ho￭ id is a bacterial infection due to salmonella ty￭ ph￭ i that causes symptoms which may vary from mild to severe and usually begin six to thirty days after exposure often there is a gradual onset of a high fever over several days weakness ab￭ domin￭ al pain con￭ sti￭ p￭ ation and headaches also commonly occur diarr￭ hea is un￭ common and v￭ om￭ iting is not usually severe some people develop a skin rash with rose colored spots in severe cases there may be confusion without treatment symptoms may last weeks or months other people may carry the bacter￭ ium without being affected however they are still able to spread the disease to others typ￭ ho￭ id fever is a type of enter￭ ic fever along with par￭ aty￭ pho￭ id fever
typ￭ ho￭ id fever also known simply as typ￭ ho￭ id is a bacterial infection due to salmonella ty￭ ph￭ i that causes symptoms which may vary from mild to severe and usually begin six to thirty days after exposure often there is a gradual onset of a high fever over several days weakness ab￭ domin￭ al pain con￭ sti￭ p￭ ation and headaches also commonly occur diarr￭ hea is un￭ common and v￭ om￭ iting is not usually severe some people develop a skin rash with rose colored spots in severe cases there may be confusion without treatment symptoms may last weeks or months other people may carry the bacter￭ ium without being affected however they are still able to spread the disease to others typ￭ ho￭ id fever is a type of enter￭ ic fever along with par￭ aty￭ pho￭ id fever the cause is the bacter￭ ium salmonella ty￭ ph￭ i also known as salmonella enter￭ ica sero￭ type ty￭ ph￭ i growing in the intest￭ ines and blood typ￭ ho￭ id is spread by eating or drinking food or water contaminated with the f￭ ec￭ es of an infected person risk factors include poor sanitation and poor hygiene those who travel to the developing world are also at risk and only humans can be infected diagnosis is by either cul￭ turing the bacteria or detecting the bacter￭ ium s dna in the blood sto￭ ol or bone marrow cul￭ turing the bacter￭ ium can be difficult bone marrow testing is the most accurate symptoms are similar to that of many other infectious diseases ty￭ ph￭ us is a different disease a typ￭ ho￭ id vaccine can prevent about 30 to 70 of cases during the first two years the vaccine may have some effect for up to seven years it is recommended for those at high risk or people traveling to areas where the disease is common other efforts to prevent the disease include providing clean drinking water better sanitation and better hand￭ washing until it has been confirmed that an individual s infection is cleared the individual should not prepare food for others treatment of disease is with antibiotics such as azi￭ thro￭ my￭ cin fluoro￭ quin￭ ol￭ ones or third generation cephal￭ os￭ por￭ ins resistance to these antibiotics has been developing which has made treatment of the disease more difficult in 2013 there were 11 million new cases reported worldwide the disease is most common in india children are most commonly affected rates of disease decreased in the developed world in the 1940 s as a result of improved sanitation and use of antibiotics to treat the disease each year in the united states about 400 cases are reported and it is estimated that the disease occurs in about 6 000 people in 2013 it resulted in about 161 000 deaths worldwide down from 181 000 in 1990 about 0 3 of the global total the risk of death may be as high as 20 without treatment with treatment it is between 1 and 4 the name typ￭ ho￭ id means resembling ty￭ ph￭ us due to the similarity in symptoms
par￭ aty￭ pho￭ id fever
par￭ aty￭ pho￭ id fever also known simply as par￭ aty￭ pho￭ id is a bacterial infection caused by one of the three types of salmonella enter￭ ica symptoms usually begin six to thirty days after exposure and are the same as those of typ￭ ho￭ id fever often there is a gradual onset of a high fever over several days weakness loss of appetite and headaches also commonly occur some people develop a skin rash with rose colored spots without treatment symptoms may last weeks or months other people may carry the bacteria without being affected however are still able to spread the disease to others both typ￭ ho￭ id and par￭ aty￭ pho￭ id are of similar severity par￭ aty￭ pho￭ id fever is a type of enter￭ ic fever along with typ￭ ho￭ id fever
salmon￭ ellosis
salmon￭ ellosis is an infection caused by salmonella bacteria most people infected with salmonella develop diarr￭ hea fever v￭ om￭ iting and ab￭ domin￭ al cram￭ ps 12 to 72 hours after infection in most cases the illness lasts four to seven days and most people recover without treatment in some cases the diarr￭ hea may be so severe that the patient becomes dangerously dehydrated and must be hosp￭ itali￭ zed
salmon￭ ellosis is an infection caused by salmonella bacteria most people infected with salmonella develop diarr￭ hea fever v￭ om￭ iting and ab￭ domin￭ al cram￭ ps 12 to 72 hours after infection in most cases the illness lasts four to seven days and most people recover without treatment in some cases the diarr￭ hea may be so severe that the patient becomes dangerously dehydrated and must be hosp￭ itali￭ zed intra￭ ven￭ ous fluids may be used to treat dehydr￭ ation medications may be used to provide symptomatic relief such as fever reduction in severe cases the salmonella infection may spread from the intest￭ ines to the blood stream and then to other body sites this is known as typ￭ ho￭ id fever and is treated with antibiotics the elderly infants and those with impaired immune systems are more likely to develop severe illness some people afflicted with salmon￭ ellosis later experience reactive ar￭ thri￭ tis which can have long lasting disab￭ ling effects the only two species of salmonella are salmonella bon￭ gor￭ i and salmonella enter￭ ica the latter is divided in six sub￭ species s e enter￭ ica s e sal￭ am￭ ae s e ari￭ zon￭ ae s e di￭ az￭ on￭ ae s e hou￭ ten￭ ase and s e indic￭ a these sub￭ species are further divided into numerous ser￭ ov￭ ars because the ser￭ ov￭ ars only differ in sero￭ types and therefore in infection potential the ser￭ ov￭ ars are not ital￭ ic￭ ised and are written with a capital letter as they still belong to the same sub￭ species the species salmonella enter￭ ica sub￭ sp enter￭ ica contains over 60 of the total number of ser￭ ov￭ ars and 99 of the ser￭ ov￭ ars that are capable of inf￭ ecting cold and warm bloo￭ ded animals as well as humans infections are usually contracted from sources such as poultry pork beef and fish seaf￭ ood if the meat is prepared incorrectly or is infected with the bacteria after preparation infected eggs egg products and milk when not prepared handled or refriger￭ ated properly tainted fruits and vegetables repti￭ les such as red e￭ ared sli￭ der tur￭ tles and green i￭ gu￭ anas may carry salmonella bon￭ gor￭ i which in￭ habits cold bloo￭ ded animals in their intest￭ ines which can cause intest￭ inal infections the most severe human salmonella infection is caused by s enter￭ ica sub￭ sp enter￭ ica ser ty￭ ph￭ i which leads to typ￭ ho￭ id fever an infection that often proves fatal if not treated with the appropriate antibiotics this ser￭ ov￭ ar is restricted to humans and is usually contracted through direct contact with the f￭ ec￭ al matter of an infected person typ￭ ho￭ id fever is endemic in the developing world where un￭ sanitary conditions are more likely to prevail and which can affect as many as 21 5 million people each year recorded cases of typ￭ ho￭ id fever in the developed world are mostly related to recent travel in areas where salmonella ty￭ ph￭ i is endemic
gastro￭ enter￭ i￭ tis
gastro￭ enter￭ i￭ tis also known as infectious diarr￭ hea is infl￭ amm￭ ation of the gastro￭ intest￭ inal tract that involves the stomach and small intest￭ ine signs and symptoms include some combination of diarr￭ hea v￭ om￭ iting and ab￭ domin￭ al pain fever lack of energy and dehydr￭ ation may also occur this typically lasts less than two weeks it is unrelated to influenza though it has been called the stomach flu
shi￭ gel￭ losis
shi￭ gel￭ losis also known as bac￭ ill￭ ary dy￭ sen￭ tery or mar￭ low syndrome in its most severe manifestation is a food￭ borne illness caused by infection by bacteria of the genus shi￭ g￭ ella shi￭ gel￭ losis rarely occurs in animals other than humans
enter￭ o￭ toxi￭ genic es￭ cher￭ ic￭ hia coli
enter￭ o￭ toxi￭ genic es￭ cher￭ ic￭ hia coli et￭ ec is a type of es￭ cher￭ ic￭ hia coli and one of the leading bacterial causes of diarr￭ hea in the developing world as well as the most common cause of travel￭ ers diarr￭ hea insufficient data exist but conservative estimates suggest that each year about 157 000 deaths occur mostly in children from et￭ ec a number of pathogenic isol￭ ates are termed et￭ ec but the main hall￭ marks of this type of bacteria are expression of one or more enter￭ o￭ toxins and presence of f￭ im￭ bri￭ ae used for attachment to host intest￭ inal cells
shi￭ gat￭ ox￭ i￭ genic and ver￭ o￭ toxi￭ genic es￭ cher￭ ic￭ hia coli
shi￭ gat￭ ox￭ i￭ genic es￭ cher￭ ic￭ hia coli st￭ ec and ver￭ o￭ toxi￭ genic e coli v￭ tec are strains of the bacter￭ ium es￭ cher￭ ic￭ hia coli that produce either shi￭ ga toxin or shi￭ ga like toxin ver￭ o￭ toxin only a minority of the strains cause illness in humans the ones that do are collectively known as enter￭ o￭ hemorrha￭ gic e coli eh￭ ec and are major causes of food￭ borne illness when inf￭ ecting humans they often cause gastro￭ enter￭ i￭ tis enter￭ o￭ co￭ li￭ tis and bloody diarr￭ hea hence the name enter￭ o￭ hemorrha￭ gic and sometimes cause the severe complic￭ ation of hem￭ ol￭ y￭ tic u￭ rem￭ ic syndrome hus the group and its sub￭ groups are known by they are distinguished from other patho￭ types of intest￭ inal pathogenic e coli including enter￭ o￭ toxi￭ genic e coli et￭ ec enter￭ opath￭ ogenic e coli ep￭ ec enter￭ o￭ invasive e coli ei￭ ec enter￭ o
camp￭ y￭ lob￭ ac￭ ter￭ i￭ osis
camp￭ y￭ lob￭ ac￭ ter￭ i￭ osis is an infection by the camp￭ y￭ lob￭ ac￭ ter bacter￭ ium most commonly c je￭ jun￭ i it is among the most common bacterial infections of humans often a food￭ borne illness it produces an infl￭ am￭ matory sometimes bloody diarr￭ hea or dy￭ sen￭ tery syndrome mostly including cram￭ ps fever and pain
y￭ er￭ s￭ ini￭ osis
y￭ er￭ s￭ ini￭ osis is an infectious disease caused by a bacter￭ ium of the genus y￭ er￭ sin￭ ia in the united states most y￭ er￭ s￭ ini￭ osis infections among humans are caused by y￭ er￭ sin￭ ia enter￭ o￭ co￭ li￭ tica the infection by y enter￭ o￭ co￭ li￭ tica is also known as pseu￭ do￭ tuberculosis y￭ er￭ s￭ ini￭ osis is mentioned as a specific zoonotic disease to prevent outbreaks in european council directive 92 117 eec another bacter￭ ium of the same genus y￭ er￭ sin￭ ia p￭ esti￭ s is the cause of plague
y￭ er￭ s￭ ini￭ osis is an infectious disease caused by a bacter￭ ium of the genus y￭ er￭ sin￭ ia in the united states most y￭ er￭ s￭ ini￭ osis infections among humans are caused by y￭ er￭ sin￭ ia enter￭ o￭ co￭ li￭ tica the infection by y enter￭ o￭ co￭ li￭ tica is also known as pseu￭ do￭ tuberculosis y￭ er￭ s￭ ini￭ osis is mentioned as a specific zoonotic disease to prevent outbreaks in european council directive 92 117 eec infection with y enter￭ o￭ co￭ li￭ tica occurs most often in young children the infection is thought to be contracted through the consumption of under￭ cooked meat products un￭ past￭ eur￭ ized milk or water contaminated by the bacteria it has been also sometimes associated with handling raw chit￭ ter￭ lings another bacter￭ ium of the same genus y￭ er￭ sin￭ ia p￭ esti￭ s is the cause of plague
clo￭ stri￭ dium di￭ ffici￭ le infection
clo￭ stri￭ dium di￭ ffici￭ le infection c￭ di is a symptomatic infection due to the spor￭ e forming bacter￭ ium clo￭ stri￭ dium di￭ ffici￭ le symptoms include wat￭ ery diarr￭ hea fever naus￭ ea and ab￭ domin￭ al pain it makes up about 20 of cases of antibiotic associated diarr￭ hea complications may include pseu￭ dom￭ emb￭ ran￭ ous co￭ li￭ tis toxic me￭ ga￭ col￭ on per￭ for￭ ation of the col￭ on and sep￭ sis
bot￭ ul￭ ism
bot￭ ul￭ ism is a rare and potentially fatal illness caused by a toxin produced by the bacter￭ ium clo￭ stri￭ dium bot￭ ul￭ inum the disease begins with weakness trouble seeing feeling tired and trouble speaking this may then be followed by weakness of the arms chest muscles and legs the disease does not usually affect consciousness or cause a fever
bot￭ ul￭ ism is a rare and potentially fatal illness caused by a toxin produced by the bacter￭ ium clo￭ stri￭ dium bot￭ ul￭ inum the disease begins with weakness trouble seeing feeling tired and trouble speaking this may then be followed by weakness of the arms chest muscles and legs the disease does not usually affect consciousness or cause a fever bot￭ ul￭ ism can be spread several different ways the bacterial spo￭ res which cause it are common in both soil and water they produce the bot￭ ul￭ inum toxin when exposed to low oxygen levels and certain temperatures food￭ borne bot￭ ul￭ ism happens when food containing the toxin is eaten infant bot￭ ul￭ ism happens when the bacteria develops in the intest￭ ines and releases the toxin this typically only occurs in children less than six months old as protective mechanisms develop after that time wound bot￭ ul￭ ism is found most often among those who inject street drugs in this situation spo￭ res enter a wound and in the absence of oxygen release the toxin it is not passed directly between people the diagnosis is confirmed by finding the toxin or bacteria in the person in question prevention is primarily by proper food preparation the toxin though not the organism is destroyed by heating it to more than 85 ° c 185 ° f for longer than 5 minutes honey can contain the organism and for this reason honey should not be fed to children under 12 months treatment is with an anti￭ toxin in those who lose their ability to breathe on their own mechanical ventilation may be necessary for months antibiotics may be used for wound bot￭ ul￭ ism death occurs in 5 to 10 of people bot￭ ul￭ ism can affect many other animals the word is from latin bot￭ ul￭ us meaning sausage
am￭ oe￭ bi￭ asis
am￭ oe￭ bi￭ asis also known as ame￭ bi￭ asis or ent￭ am￭ oe￭ bi￭ asis is an infection caused by any of the am￭ oe￭ bas of the ent￭ am￭ oe￭ ba group symptoms are most common upon infection by ent￭ am￭ oe￭ ba hist￭ ol￭ y￭ tica am￭ oe￭ bi￭ asis can present with no mild or severe symptoms symptoms may include ab￭ domin￭ al pain mild diarr￭ ho￭ ea bloody diarr￭ hea or severe co￭ li￭ tis with tissue death and per￭ for￭ ation this last complic￭ ation may cause per￭ it￭ oni￭ tis people affected may develop an￭ emia due to loss of blood
gi￭ ardi￭ asis
gi￭ ardi￭ asis popul￭ arly known as be￭ aver fever is a zoonotic par￭ asi￭ tic disease caused by the flag￭ ell￭ ate proto￭ zo￭ an gi￭ ar￭ dia lam￭ b￭ lia also sometimes called gi￭ ar￭ dia inte￭ stin￭ alis and gi￭ ar￭ dia du￭ o￭ den￭ alis the gi￭ ar￭ dia organism in￭ habits the dig￭ estive tract of a wide variety of domestic and wild animal species as well as humans it is one of the most common pathogenic par￭ asi￭ tic infections in humans worldwide in 2013 there were about 280 million people worldwide with symptomatic gi￭ ardi￭ asis
cry￭ pto￭ spor￭ idi￭ osis
cry￭ pto￭ spor￭ idi￭ osis also known as cry￭ p￭ to is a par￭ asi￭ tic disease caused by cry￭ pto￭ spor￭ idi￭ um a genus of proto￭ zo￭ an parasites in the ph￭ yl￭ um ap￭ i￭ complex￭ a it affects the dis￭ tal small intest￭ ine and can affect the respiratory tract in both immun￭ o￭ competent i e individuals with a normal functioning immune system and immun￭ o￭ compromised e g persons with hiv aids individuals resulting in wat￭ ery diarr￭ hea with or without an un￭ explained cough in immun￭ o￭ compromised individuals the symptoms are particularly severe and can be fatal it is primarily spread through the f￭ ec￭ al oral route often through contaminated water recent evidence suggests that it can also be transmitted via fom￭ ites in respiratory secre￭ tions
cry￭ pto￭ spor￭ idi￭ osis also known as cry￭ p￭ to is a par￭ asi￭ tic disease caused by cry￭ pto￭ spor￭ idi￭ um a genus of proto￭ zo￭ an parasites in the ph￭ yl￭ um ap￭ i￭ complex￭ a it affects the dis￭ tal small intest￭ ine and can affect the respiratory tract in both immun￭ o￭ competent i e individuals with a normal functioning immune system and immun￭ o￭ compromised e g persons with hiv aids individuals resulting in wat￭ ery diarr￭ hea with or without an un￭ explained cough in immun￭ o￭ compromised individuals the symptoms are particularly severe and can be fatal it is primarily spread through the f￭ ec￭ al oral route often through contaminated water recent evidence suggests that it can also be transmitted via fom￭ ites in respiratory secre￭ tions cry￭ pto￭ spor￭ idi￭ um is the organism most commonly isolated in hiv positive patients presenting with diarr￭ hea despite not being identified until 1976 it is one of the most common water￭ borne diseases and is found worldwide the parasite is transmitted by environmentally hardy micro￭ bial cy￭ sts o￭ oc￭ y￭ sts that once ing￭ ested exist in the small intest￭ ine and result in an infection of intest￭ inal epi￭ the￭ li￭ al tissue
tuberculosis
tuberculosis tb is an infectious disease caused by the bacter￭ ium my￭ co￭ bacter￭ ium tuberculosis m￭ tb tuberculosis generally affects the lungs but can also affect other parts of the body most infections do not have symptoms known as latent tuberculosis about 10 of latent infections progress to active disease which if left untreated kills about half of those infected the classic symptoms of active tb are a chronic cough with blood containing sp￭ u￭ tum fever night swe￭ ats and weight loss the historical term consumption came about due to the weight loss infection of other organs can cause a wide range of symptoms
tuberculosis tb is an infectious disease caused by the bacter￭ ium my￭ co￭ bacter￭ ium tuberculosis m￭ tb tuberculosis generally affects the lungs but can also affect other parts of the body most infections do not have symptoms known as latent tuberculosis about 10 of latent infections progress to active disease which if left untreated kills about half of those infected the classic symptoms of active tb are a chronic cough with blood containing sp￭ u￭ tum fever night swe￭ ats and weight loss the historical term consumption came about due to the weight loss infection of other organs can cause a wide range of symptoms tuberculosis is spread through the air when people who have active tb in their lungs cough spit speak or snee￭ ze people with latent tb do not spread the disease active infection occurs more often in people with hiv aids and in those who smoke diagnosis of active tb is based on chest x rays as well as micro￭ scopic examination and culture of body fluids diagnosis of latent tb relies on the tubercul￭ in skin test t￭ st or blood tests prevention of tb involves screening those at high risk early detection and treatment of cases and vaccination with the bac￭ ill￭ us cal￭ met￭ te gu￭ ér￭ in vaccine those at high risk include household workplace and social contacts of people with active tb treatment requires the use of multiple antibiotics over a long period of time antibiotic resistance is a growing problem with increasing rates of multiple drug resistant tuberculosis m￭ dr tb one third of the world s population is thought to be infected with tb new infections occur in about 1 of the population each year in 2014 there were 9 6 million cases of active tb which resulted in 1 5 million deaths more than 95 of deaths occurred in developing countries the number of new cases each year has decreased since 2000 about 80 of people in many asian and african countries test positive while 5 – 10 of people in the united states population tests positive by the tubercul￭ in test tuberculosis has been present in humans since ancient times
tubercul￭ ous cer￭ vic￭ al lymp￭ had￭ eni￭ tis
my￭ co￭ bacterial cer￭ vic￭ al lymp￭ had￭ eni￭ tis also known as scro￭ ful￭ a or king s evil refers to a lymp￭ had￭ eni￭ tis of the cer￭ vic￭ al lymp￭ h no￭ des associated with tuberculosis as well as non tubercul￭ ous atypical my￭ co￭ bacteria
plague disease
plague is an infectious disease that is caused by the bacter￭ ium y￭ er￭ sin￭ ia p￭ esti￭ s depending on lung infection or sanitary conditions plague can be spread in the air by direct contact or very rarely by contaminated under￭ cooked food the symptoms of plague depend on the concentrated areas of infection in each person bu￭ bon￭ ic plague in lymp￭ h no￭ des sep￭ tic￭ emic plague in blood vessels pneu￭ mon￭ ic plague in lungs it is treat￭ able if detected early plague is still relatively common in some remote parts of the world
tul￭ are￭ mia
tul￭ are￭ mia is a serious infectious disease caused by the in￭ trac￭ ell￭ ular bacter￭ ium franc￭ is￭ ella tul￭ aren￭ sis it causes fever and sometimes ul￭ cer￭ ation at the site of entry and or sw￭ elling of nearby lymp￭ h no￭ des it can cause severe pneumonia
anthrax
anthrax is an infection caused by the bacter￭ ium bac￭ ill￭ us anth￭ rac￭ is it can occur in four forms skin inhal￭ ation intest￭ inal and injection symptoms begin between one day and two months after contracting the infection the skin form presents with a small bl￭ ister with surrounding sw￭ elling that often turns into a pain￭ less ul￭ cer with a black center the inhal￭ ation form presents with fever chest pain and short￭ ness of breath the intest￭ inal form presents with naus￭ ea v￭ om￭ iting diarr￭ hea or ab￭ domin￭ al pain the injection form presents with fever and an abs￭ c￭ ess at the site of drug injection
anthrax is an infection caused by the bacter￭ ium bac￭ ill￭ us anth￭ rac￭ is it can occur in four forms skin inhal￭ ation intest￭ inal and injection symptoms begin between one day and two months after contracting the infection the skin form presents with a small bl￭ ister with surrounding sw￭ elling that often turns into a pain￭ less ul￭ cer with a black center the inhal￭ ation form presents with fever chest pain and short￭ ness of breath the intest￭ inal form presents with naus￭ ea v￭ om￭ iting diarr￭ hea or ab￭ domin￭ al pain the injection form presents with fever and an abs￭ c￭ ess at the site of drug injection anthrax is spread by contact with the spo￭ res of the bacteria which are often from infectious animal products contact is by breathing eating or through an area of broken skin it does not typically spread directly between people risk factors include people who work with animals or animal products travel￭ ers postal workers and military personnel diagnosis can be confirmed based on finding antibodies or the toxin in the blood or by culture of a sample from the infected site anthrax vaccination is recommended for people who are at high risk immun￭ izing animals against anthrax is recommended in areas where previous infections have occurred two months of antibiotics such as do￭ xy￭ cycl￭ ine or ci￭ prof￭ lo￭ x￭ ac￭ in after exposure can also prevent infection if infection occurs treatment is with antibiotics and possibly anti￭ toxin the type and number of antibiotics used depends on the type of infection anti￭ toxin is recommended for those with widespread infection anthrax among people is most common in africa and central and southern asia it also occurs fairly regularly in southern europe but is un￭ common in northern europe and north america globally at least 2 000 cases occur a year with about two cases a year in the united states skin infections represent more than 95 of cases without treatment the risk of death from skin anthrax is 24 for intest￭ inal infection the risk of death is 25 to 75 while in inhal￭ ed anthrax despite treatment it is around 50 to 80 until the 20 th century anthrax infections killed hundreds of thousands of people and other animals each year anthrax has been developed as a weapon by a number of countries in plant eating animals infection occurs when they eat or breathe in the spo￭ res while grazing carni￭ vores may become infected by eating infected animals
brucellosis
brucellosis is a highly contagious zoon￭ osis caused by ing￭ estion of un￭ past￭ eur￭ ized milk or under￭ cooked meat from infected animals or close contact with their secre￭ tions bruc￭ ella species are small gram negative non￭ mo￭ tile non￭ spor￭ e forming rod shaped coc￭ co￭ bac￭ ill￭ i bacteria they function as fac￭ ul￭ tative in￭ trac￭ ell￭ ular parasites causing chronic disease which usually persists for life four species infect humans b abor￭ tus b can￭ is b mel￭ it￭ ensis and b su￭ is b abor￭ tus is less virulent than b mel￭ it￭ ensis and is primarily a disease of cattle b can￭ is affects dogs b mel￭ it￭ ensis is the most virulent and invasive species it usually inf￭ ects goats and occasionally sheep b su￭ is is of intermediate virul￭ ence and chiefly inf￭ ects pigs symptoms include prof￭ use swe￭ ating and joint and muscle p
brucellosis is a highly contagious zoon￭ osis caused by ing￭ estion of un￭ past￭ eur￭ ized milk or under￭ cooked meat from infected animals or close contact with their secre￭ tions bruc￭ ella species are small gram negative non￭ mo￭ tile non￭ spor￭ e forming rod shaped coc￭ co￭ bac￭ ill￭ i bacteria they function as fac￭ ul￭ tative in￭ trac￭ ell￭ ular parasites causing chronic disease which usually persists for life four species infect humans b abor￭ tus b can￭ is b mel￭ it￭ ensis and b su￭ is b abor￭ tus is less virulent than b mel￭ it￭ ensis and is primarily a disease of cattle b can￭ is affects dogs b mel￭ it￭ ensis is the most virulent and invasive species it usually inf￭ ects goats and occasionally sheep b su￭ is is of intermediate virul￭ ence and chiefly inf￭ ects pigs symptoms include prof￭ use swe￭ ating and joint and muscle pain brucellosis has been recognized in animals and humans since the 20 th century
glan￭ ders
glan￭ ders from middle english g￭ laund￭ res or old french g￭ land￭ res both meaning g￭ lands latin mal￭ le￭ us german rot￭ z also known as equ￭ in￭ ia far￭ cy and mal￭ le￭ us is an infectious disease that occurs primarily in horses mul￭ es and don￭ keys it can be contracted by other animals such as dogs cats goats and humans it is caused by infection with the bacter￭ ium burk￭ hol￭ der￭ ia mal￭ le￭ i usually by ing￭ estion of contaminated feed or water signs of glan￭ ders include the formation of no￭ d￭ ular le￭ sions in the lungs and ul￭ cer￭ ation of the mu￭ co￭ us memb￭ ran￭ es in the upper respiratory tract the acute form results in cou￭ gh￭ ing fever and the release of an infectious nas￭ al discharge followed by sep￭ tic￭ aemia and death within days in the chronic form nas￭ al and sub￭ cu￭ taneous no￭ d￭ ules develop eventually ul￭ cer￭ ati
glan￭ ders from middle english g￭ laund￭ res or old french g￭ land￭ res both meaning g￭ lands latin mal￭ le￭ us german rot￭ z also known as equ￭ in￭ ia far￭ cy and mal￭ le￭ us is an infectious disease that occurs primarily in horses mul￭ es and don￭ keys it can be contracted by other animals such as dogs cats goats and humans it is caused by infection with the bacter￭ ium burk￭ hol￭ der￭ ia mal￭ le￭ i usually by ing￭ estion of contaminated feed or water signs of glan￭ ders include the formation of no￭ d￭ ular le￭ sions in the lungs and ul￭ cer￭ ation of the mu￭ co￭ us memb￭ ran￭ es in the upper respiratory tract the acute form results in cou￭ gh￭ ing fever and the release of an infectious nas￭ al discharge followed by sep￭ tic￭ aemia and death within days in the chronic form nas￭ al and sub￭ cu￭ taneous no￭ d￭ ules develop eventually ul￭ cer￭ ating death can occur within months while survivors act as carriers glan￭ ders is endemic in africa asia the middle east and central and south america it has been eradicated from north america australia and most of europe through surveillance and destruction of affected animals and import restrictions b mal￭ le￭ i is able to infect humans so is classed as a zoonotic agent transmission occurs by direct contact with infected animals and entry is through skin abra￭ sions nas￭ al and oral mu￭ cos￭ al surfaces or by inhal￭ ation the mal￭ le￭ in test is a sensitive and specific clinical test for glan￭ ders mal￭ le￭ in at￭ c￭ vet code q￭ i 05 ar 01 who a protein fraction of the glan￭ ders organism b mal￭ le￭ i is injected in￭ trad￭ er￭ mop￭ al￭ pe￭ br￭ ally or given by eye drop in infected animals the eye￭ lid sw￭ ells markedly in 1 to 2 days glan￭ ders has not been reported in the united states since 1945 except in 2000 when an american lab researcher suffered from accidental exposure it is a notifiable disease in the uk although it has not been reported there since 19￭ 28
meli￭ o￭ ido￭ sis
meli￭ o￭ ido￭ sis is an infectious disease caused by a gram negative bacter￭ ium burk￭ hol￭ der￭ ia pseu￭ dom￭ alle￭ i found in soil and water it is of public health importance in endemic areas particularly in vietnam and northern australia it exists in acute and chronic forms signs and symptoms may include pain in chest bones or joints cough skin infections lung no￭ d￭ ules and pneumonia
rat bite fever
rat bite fever is an acute fe￭ bri￭ le human illness caused by bacteria transmitted by ro￭ dents rats or mice in most cases which is passed from ro￭ dent to human by the ro￭ dent s urine or mu￭ co￭ us secre￭ tions alternative names for rat bite fever include st￭ rep￭ tob￭ ac￭ ill￭ ary fever st￭ rep￭ tob￭ ac￭ il￭ losis spi￭ ri￭ ll￭ ary fever so￭ do￭ ku and epidemic ar￭ thri￭ tic er￭ y￭ them￭ a it is a rare disease spread by infected ro￭ dents and can be caused by two specific types of bacteria most cases occur in japan but specific strains of the disease are present in the united states europe australia and africa some cases are diagnosed after patients were exposed to the urine or bodily secre￭ tions of an infected animal these secre￭ tions can come from the mouth nose or eyes of the ro￭ dent the majority of cases are due to the ani
rat bite fever is an acute fe￭ bri￭ le human illness caused by bacteria transmitted by ro￭ dents rats or mice in most cases which is passed from ro￭ dent to human by the ro￭ dent s urine or mu￭ co￭ us secre￭ tions alternative names for rat bite fever include st￭ rep￭ tob￭ ac￭ ill￭ ary fever st￭ rep￭ tob￭ ac￭ il￭ losis spi￭ ri￭ ll￭ ary fever so￭ do￭ ku and epidemic ar￭ thri￭ tic er￭ y￭ them￭ a it is a rare disease spread by infected ro￭ dents and can be caused by two specific types of bacteria most cases occur in japan but specific strains of the disease are present in the united states europe australia and africa some cases are diagnosed after patients were exposed to the urine or bodily secre￭ tions of an infected animal these secre￭ tions can come from the mouth nose or eyes of the ro￭ dent the majority of cases are due to the animal s bite it can also be transmitted throughout food or water contaminated with rat f￭ ec￭ es or urine other animals can be infected with this disease including we￭ as￭ els ger￭ bil￭ s and squir￭ rels household pets such as dogs or cats exposed to these animals can also carry the disease and infect humans if a person is bit￭ ten by a ro￭ dent it is important to quickly wash and clean￭ se the wound area thoroughly with anti￭ se￭ ptic solution to reduce the risk of infection
le￭ pto￭ spi￭ ro￭ sis
le￭ pto￭ spi￭ ro￭ sis is an infection caused by cor￭ k￭ screw shaped bacteria called le￭ pto￭ spir￭ a signs and symptoms can range from none to mild such as headaches muscle pains and fe￭ vers to severe with bleeding from the lungs or men￭ ing￭ i￭ tis if the infection causes the person to turn yellow have kidney failure and bleeding it is then known as weil s disease if it causes lots of bleeding from the lungs it is known as severe pul￭ mon￭ ary hemorrha￭ ge syndrome
cat scratch disease
cat scratch disease cs￭ d is a common and usually benign infectious disease caused by the bacter￭ ium bar￭ ton￭ ella hen￭ sel￭ ae it is most commonly found in children following a scratch or bite from a cat within about one to two weeks
leprosy
leprosy also known as hansen s disease hd is a long term infection caused by the bac￭ ill￭ i my￭ co￭ bacter￭ ium le￭ pra￭ e and my￭ co￭ bacter￭ ium lepro￭ mat￭ osis initially infections are without symptoms and typically remain this way for 5 to 20 years symptoms that develop include gran￭ ul￭ om￭ as of the nerves respiratory tract skin and eyes this may result in a lack of ability to feel pain and thus loss of parts of extre￭ mi￭ ties due to repeated injuries or infection due to unnoticed wounds weakness and poor eye￭ sight may also be present
bur￭ uli ul￭ cer
bur￭ uli ul￭ cer also known as the b￭ air￭ n￭ s￭ dale ul￭ cer sear￭ ls ul￭ cer or d￭ ain￭ tree ul￭ cer is an infectious disease caused by my￭ co￭ bacter￭ ium ul￭ cer￭ ans the early stage of the infection is characterised by a pain￭ less no￭ dule or area of sw￭ elling this no￭ dule can turn into an ul￭ cer the ul￭ cer may be larger inside than at the surface of the skin and can be surrounded by sw￭ elling as the disease wor￭ sens bone can be infected bur￭ uli ul￭ cers most commonly affect the arms or legs fever is un￭ common
lis￭ ter￭ i￭ osis
lis￭ ter￭ i￭ osis is a bacterial infection most commonly caused by lis￭ ter￭ ia mon￭ oc￭ y￭ to￭ genes although l ivan￭ o￭ vii and l gray￭ i have been reported in certain cases lis￭ ter￭ ia primarily causes infections of the central nervous system men￭ ing￭ i￭ tis men￭ in￭ go￭ en￭ ce￭ ph￭ ali￭ tis brain abs￭ c￭ ess cere￭ bri￭ tis and bacter￭ emia in those who are immun￭ o￭ compromised pregnant women and those at the extremes of age new￭ bor￭ ns and the elderly as well as gastro￭ enter￭ i￭ tis in healthy persons who have been severely infected lis￭ ter￭ ia is ubiquitous and is primarily transmitted via the oral route after ing￭ estion of contaminated food products after which the organism penetr￭ ates the intest￭ inal tract to cause systemic infections the diagnosis of lis￭ ter￭ i￭ osis requires the isolation of the organism from the blood and or the cere￭ bro￭ sp￭ i
lis￭ ter￭ i￭ osis is a bacterial infection most commonly caused by lis￭ ter￭ ia mon￭ oc￭ y￭ to￭ genes although l ivan￭ o￭ vii and l gray￭ i have been reported in certain cases lis￭ ter￭ ia primarily causes infections of the central nervous system men￭ ing￭ i￭ tis men￭ in￭ go￭ en￭ ce￭ ph￭ ali￭ tis brain abs￭ c￭ ess cere￭ bri￭ tis and bacter￭ emia in those who are immun￭ o￭ compromised pregnant women and those at the extremes of age new￭ bor￭ ns and the elderly as well as gastro￭ enter￭ i￭ tis in healthy persons who have been severely infected lis￭ ter￭ ia is ubiquitous and is primarily transmitted via the oral route after ing￭ estion of contaminated food products after which the organism penetr￭ ates the intest￭ inal tract to cause systemic infections the diagnosis of lis￭ ter￭ i￭ osis requires the isolation of the organism from the blood and or the cere￭ bro￭ spinal fluid treatment includes prolonged administration of antibiotics primarily am￭ pic￭ ill￭ in and gent￭ am￭ ic￭ in to which the organism is usually susceptible
te￭ tan￭ us
te￭ tan￭ us also known as lock￭ jaw is an infection characterized by muscle sp￭ as￭ ms in the most common type the sp￭ as￭ ms begin in the jaw and then progress to the rest of the body these sp￭ as￭ ms usually last a few minutes each time and occur frequently for three to four weeks sp￭ as￭ ms may be so severe that bone fractu￭ res may occur other symptoms may include fever swe￭ ating headache trouble sw￭ allowing high blood pressure and a fast heart rate onset of symptoms is typically three to twenty one days following infection it may take months to recover about 10 of those infected die
di￭ ph￭ ther￭ ia
di￭ ph￭ ther￭ ia is an infection caused by the bacter￭ ium cor￭ y￭ ne￭ bacter￭ ium di￭ ph￭ ther￭ i￭ ae signs and symptoms may vary from mild to severe they usually start two to five days after exposure symptoms often come on fairly gradually beginning with a sore throat and fever in severe cases a grey or white patch develops in the throat this can block the air￭ way and create a barking cough as in cro￭ up the neck may swell in part due to large lymp￭ h no￭ des a form of di￭ ph￭ ther￭ ia that involves the skin eyes or gen￭ itals also exists complications may include my￭ o￭ cardi￭ tis infl￭ amm￭ ation of nerves kidney problems and bleeding problems due to low blood plat￭ el￭ ets my￭ o￭ cardi￭ tis may result in an abnormal heart rate and infl￭ amm￭ ation of the nerves may result in paralysis
per￭ tus￭ sis
per￭ tus￭ sis also known as who￭ oping cough or 100 day cough is a highly contagious bacterial disease initially symptoms are usually similar to those of the common cold with a run￭ ny nose fever and mild cough this is then followed by weeks of severe cou￭ gh￭ ing fits following a fit of cou￭ gh￭ ing a high pitched who￭ op sound or gas￭ p may occur as the person breath￭ es in the cou￭ gh￭ ing may last for 10 or more weeks hence the phrase 100 day cough a person may cough so hard that they v￭ omit break ribs or become very tired from the effort children less than one year old may have little or no cough and instead have periods where they do not breathe the time between infection and the onset of symptoms is usually seven to ten days disease may occur in those who have been vaccinated but symptoms
per￭ tus￭ sis also known as who￭ oping cough or 100 day cough is a highly contagious bacterial disease initially symptoms are usually similar to those of the common cold with a run￭ ny nose fever and mild cough this is then followed by weeks of severe cou￭ gh￭ ing fits following a fit of cou￭ gh￭ ing a high pitched who￭ op sound or gas￭ p may occur as the person breath￭ es in the cou￭ gh￭ ing may last for 10 or more weeks hence the phrase 100 day cough a person may cough so hard that they v￭ omit break ribs or become very tired from the effort children less than one year old may have little or no cough and instead have periods where they do not breathe the time between infection and the onset of symptoms is usually seven to ten days disease may occur in those who have been vaccinated but symptoms are typically mil￭ der per￭ tus￭ sis is caused by the bacter￭ ium bor￭ det￭ ella per￭ tus￭ sis it is an airborne disease which spreads easily through the cou￭ ghs and snee￭ zes of an infected person people are infectious to others from the start of symptoms until about three weeks into the cou￭ gh￭ ing fits those treated with antibiotics are no longer infectious after five days diagnosis is by collecting a sample from the back of the nose and throat this sample can then be tested by either culture or by poly￭ mer￭ ase chain reaction prevention is mainly by vaccination with the per￭ tus￭ sis vaccine initial immun￭ ization is recommended between six and eight weeks of age with four doses to be given in the first two years of life the vaccine becomes less effective over time with additional doses often recommended for older children and adults antibiotics may be used to prevent the disease in those who have been exposed and are at risk of severe disease in those with the disease antibiotics are useful if started within three weeks of the initial symptoms but otherwise have little effect in most people in children less than one year old and among those who are pregnant they are recommended within six weeks of symptom onset antibiotics used include er￭ y￭ thro￭ my￭ cin azi￭ thro￭ my￭ cin clari￭ thro￭ my￭ cin or trim￭ eth￭ op￭ rim sul￭ f￭ ame￭ th￭ ox￭ azole evidence to support interventions other than antibiotics for the cough is poor many children less than a year of age require hosp￭ itali￭ zation an estimated 16 million people worldwide are infected per year most cases occur in the developing world and people of all ages may be affected in 2013 it resulted in 61 000 deaths – down from 138 000 deaths in 1990 nearly 0 5 of infected children less than one year of age die outbreaks of the disease were first described in the 16 th century the bacter￭ ium that causes the infection was discovered in 1906 the per￭ tus￭ sis vaccine became available in the 1940 s
scar￭ let fever
scar￭ let fever can occur as a result of a group a st￭ rep￭ to￭ co￭ cc￭ us group a stre￭ p infection the signs and symptoms include a sore throat fever headaches sw￭ oll￭ en lymp￭ h no￭ des and a characteristic rash the rash is red and feels like sand￭ paper and the tongue may be red and bumpy it most commonly affects children between five and fifteen years of age
ex￭ anthem
an ex￭ anthem or ex￭ an￭ them￭ a from greek ἐ￭ ξ￭ άν￭ θη￭ μα ex￭ án￭ th￭ ē￭ ma a breaking out is a widespread rash usually occurring in children an ex￭ anthem can be caused by toxins drugs or micro￭ organisms or can result from auto￭ immune disease it can be contr￭ asted with an en￭ anthem
water￭ house – fri￭ der￭ ich￭ sen syndrome
water￭ house – fri￭ der￭ ich￭ sen syndrome w￭ fs hemorrha￭ gic adren￭ ali￭ tis or ful￭ min￭ ant men￭ in￭ go￭ co￭ cc￭ emia is defined as adren￭ al g￭ land failure due to bleeding into the adren￭ al g￭ lands commonly caused by severe bacterial infection typically the pathogen is the men￭ in￭ go￭ co￭ cc￭ us ne￭ is￭ ser￭ ia men￭ ing￭ i￭ ti￭ dis
sep￭ sis
sep￭ sis is a life threatening condition that arises when the body s response to infection inj￭ ures its own tissues and organs common signs and symptoms include fever increased heart rate increased breathing rate and confusion there may also be symptoms related to a specific infection such as a cough with pneumonia or painful ur￭ ination with a kidney infection in the very young old and people with a weakened immune system there may be no symptoms of a specific infection and the body temperature may be low or normal rather than high severe sep￭ sis is sep￭ sis causing poor organ function or insufficient blood flow insufficient blood flow may be evident by low blood pressure high blood lact￭ ate or low urine output se￭ ptic shock is low blood pressure due to sep￭ sis that does not improve
sep￭ sis is a life threatening condition that arises when the body s response to infection inj￭ ures its own tissues and organs common signs and symptoms include fever increased heart rate increased breathing rate and confusion there may also be symptoms related to a specific infection such as a cough with pneumonia or painful ur￭ ination with a kidney infection in the very young old and people with a weakened immune system there may be no symptoms of a specific infection and the body temperature may be low or normal rather than high severe sep￭ sis is sep￭ sis causing poor organ function or insufficient blood flow insufficient blood flow may be evident by low blood pressure high blood lact￭ ate or low urine output se￭ ptic shock is low blood pressure due to sep￭ sis that does not improve after reasonable amounts of intra￭ ven￭ ous fluids are given sep￭ sis is caused by an immune response triggered by an infection the infection is most commonly bacterial but it can be from fun￭ gi viruses or parasites common locations for the primary infection include lungs brain ur￭ inary tract skin and ab￭ domin￭ al organs risk factors include young or old age a weakened immune system from conditions such as cancer or diabetes and major trauma or burns diagnosis was based on meeting at least two systemic infl￭ am￭ matory response syndrome si￭ rs criteria due to a presumed infection in 2016 screening by si￭ rs was replaced with q￭ sof￭ a which is two of the following three increased breathing rate change in level of consciousness and low blood pressure blood cultures are recommended preferably before antibiotics are started however infection of the blood is not required for the diagnosis medical imaging should be done to look for the possible location of infection other potential causes of similar signs and symptoms include an￭ ap￭ hy￭ lax￭ is adren￭ al in￭ sufficiency low blood volume heart failure and pul￭ mon￭ ary embol￭ ism among others sep￭ sis is usually treated with intra￭ ven￭ ous fluids and antibiotics antibiotics are typically given as soon as possible this is often done in an intensive care unit if fluid replacement is not enough to maintain blood pressure medications that raise blood pressure can be used mechanical ventilation and dial￭ ysis may be needed to support the function of the lungs and kidneys respectively to guide treatment a central ven￭ ous cathe￭ ter and an arter￭ ial cathe￭ ter may be placed for access to the blood￭ stream other measurements such as cardiac output and superior ven￭ a cav￭ a oxygen satur￭ ation may be used people with sep￭ sis need preventive measures for deep vein thro￭ m￭ bo￭ sis stress ul￭ cers and pressure ul￭ cers unless other conditions prevent such interventions some might benefit from tight control of blood sugar levels with insulin the use of cor￭ ti￭ co￭ ster￭ oids is controversial activated dro￭ tre￭ co￭ gin al￭ fa originally marketed for severe sep￭ sis has not been found to be helpful and was withdrawn from sale in 2011 disease severity partly determines the outcome with the risk of death from sep￭ sis being as high as 30 severe sep￭ sis as high as 50 and se￭ ptic shock as high as 80 the number of cases worldwide is unknown as there is little data from the developing world estimates suggest sep￭ sis affects millions of people a year in the developed world about 0 2 to 3 per 1000 people get sep￭ sis yearly or about a million cases per year in the united states rates of disease have been increasing sep￭ sis is more common among males than females the condition has been described at least since the time of hippo￭ crates the terms sep￭ tic￭ emia and blood poisoning referred to the micro￭ organisms or their toxins in the blood and are no longer commonly used
jan￭ e￭ way le￭ sion
jan￭ e￭ way le￭ sions are non tender small er￭ y￭ them￭ at￭ ous or haemorrha￭ gic mac￭ ular or no￭ d￭ ular le￭ sions on the pal￭ ms or sol￭ es only a few milli￭ meters in diameter that are indicative of infec￭ tive endo￭ cardi￭ tis patho￭ logically the le￭ sion is described to be a micro￭ abs￭ c￭ ess of the der￭ mis with marked necro￭ sis and infl￭ am￭ matory infiltr￭ ate not involving the ep￭ id￭ er￭ mis they are caused by se￭ ptic emb￭ oli which deposit bacteria forming micro￭ abs￭ c￭ esses jan￭ e￭ way le￭ sions are dis￭ tal flat ec￭ ch￭ y￭ mo￭ tic and pain￭ less
jan￭ e￭ way le￭ sions are non tender small er￭ y￭ them￭ at￭ ous or haemorrha￭ gic mac￭ ular or no￭ d￭ ular le￭ sions on the pal￭ ms or sol￭ es only a few milli￭ meters in diameter that are indicative of infec￭ tive endo￭ cardi￭ tis patho￭ logically the le￭ sion is described to be a micro￭ abs￭ c￭ ess of the der￭ mis with marked necro￭ sis and infl￭ am￭ matory infiltr￭ ate not involving the ep￭ id￭ er￭ mis they are caused by se￭ ptic emb￭ oli which deposit bacteria forming micro￭ abs￭ c￭ esses jan￭ e￭ way le￭ sions are dis￭ tal flat ec￭ ch￭ y￭ mo￭ tic and pain￭ less o￭ sl￭ er s no￭ des and jan￭ e￭ way le￭ sions are similar but o￭ sl￭ er s no￭ des present with tender￭ ness and are of immun￭ o￭ logic origin
ac￭ tin￭ om￭ y￭ co￭ sis
bar￭ ton￭ ellosis
bar￭ ton￭ ellosis is an infectious disease produced by bacteria of the genus bar￭ ton￭ ella bar￭ ton￭ ella species cause diseases such as carri￭ ón ´ s disease tren￭ ch fever cat scratch disease bac￭ ill￭ ary an￭ gi￭ om￭ at￭ osis pe￭ li￭ osis hepati￭ s chronic bacter￭ emia endo￭ cardi￭ tis chronic lymp￭ had￭ en￭ opathy and neuro￭ logical disorders
carri￭ on s disease
oro￭ ya fever or carri￭ on s disease is an infectious disease produced by bar￭ ton￭ ella bac￭ il￭ li￭ form￭ is infection it is named after daniel al￭ ci￭ des carri￭ ón
bac￭ ill￭ ary an￭ gi￭ om￭ at￭ osis
er￭ y￭ si￭ pel￭ as
er￭ y￭ si￭ pel￭ as ɛ￭ r￭ ᵻ￭ ˈ￭ s￭ ɪ￭ p￭ ə￭ l￭ ə￭ s greek ἐ￭ ρ￭ υ￭ σ￭ ί￭ π￭ ελ￭ ας red skin also known as ign￭ is sac￭ er holy fire and st anthony s fire in some countries is an acute infection typically with a skin rash usually on any of the legs and toes face arms and fingers it is an infection of the upper der￭ mis and superficial lymp￭ h￭ atics usually caused by beta hem￭ ol￭ y￭ tic group a st￭ rep￭ to￭ co￭ cc￭ us bacteria on scrat￭ ches or otherwise infected areas er￭ y￭ si￭ pel￭ as is more superficial than cell￭ u￭ li￭ tis and is typically more raised and demarc￭ ated
gas gang￭ rene
gas gang￭ rene also known as clo￭ stri￭ dial my￭ on￭ ec￭ ro￭ sis and my￭ on￭ ec￭ ro￭ sis is a bacterial infection that produces gas in tissues in gang￭ rene this deadly form of gang￭ rene usually is caused by clo￭ stri￭ dium per￭ fr￭ ing￭ ens bacteria it is a medical emergency about 1000 cases of gas gang￭ rene occur yearly in the united states other causes of my￭ on￭ ec￭ ro￭ sis include en￭ ven￭ om￭ ation by snakes of the bo￭ thro￭ ps genus family vi￭ peri￭ da￭ e is￭ chem￭ ic necro￭ sis caused by vascular block￭ age e g diabetes type ii tum￭ ours that block or ho￭ ard blood supply and disseminated intr￭ av￭ ascular co￭ ag￭ ulation or other thro￭ m￭ bo￭ ses
legi￭ onn￭ aires disease
legi￭ onn￭ aires disease is a form of atypical pneumonia caused by any type of legi￭ on￭ ella bacteria signs and symptoms include cough short￭ ness of breath high fever muscle pains and headaches naus￭ ea v￭ om￭ iting and diarr￭ hea may also occur this often begins two to ten days after being exposed there is no vaccine prevention depends on good maintenance of water systems treatment of legi￭ onn￭ aires disease is with antibiotics recommended agents include fluoro￭ quin￭ ol￭ ones azi￭ thro￭ my￭ cin or do￭ xy￭ cycl￭ ine hosp￭ itali￭ zation is often required about 10 of those who are infected die
legi￭ onn￭ aires disease is a form of atypical pneumonia caused by any type of legi￭ on￭ ella bacteria signs and symptoms include cough short￭ ness of breath high fever muscle pains and headaches naus￭ ea v￭ om￭ iting and diarr￭ hea may also occur this often begins two to ten days after being exposed the bacter￭ ium is found naturally in fresh water it can contam￭ inate hot water tanks hot tu￭ bs and cooling towers of large air condi￭ tioners it is usually spread by breathing in mist that contains the bacteria it can also occur when contaminated water is aspir￭ ated it typically does not spread directly between people and most people who are exposed do not become infected risk factors for infection include older age history of smoking chronic lung disease and poor immune function it is recommended that those with severe pneumonia and those with pneumonia and a recent travel history be tested for the disease diagnosis is by a ur￭ inary antigen test and sp￭ u￭ tum culture there is no vaccine prevention depends on good maintenance of water systems treatment of legi￭ onn￭ aires disease is with antibiotics recommended agents include fluoro￭ quin￭ ol￭ ones azi￭ thro￭ my￭ cin or do￭ xy￭ cycl￭ ine hosp￭ itali￭ zation is often required about 10 of those who are infected die the number of cases that occur globally is not known it is estimated that legi￭ onn￭ aires disease is the cause of between two and nine percent of pneumonia cases that occur in the community there are an estimated 8 000 to 18 000 cases a year in the united states that require hosp￭ itali￭ zation outbreaks of disease account for a minority of cases while it can occur any time of the year it is more common in the summer and fall the disease is named after the outbreak where it was first identified the 1976 american leg￭ ion convention in philadelphia
toxic shock syndrome
toxic shock syndrome t￭ ss is a potentially fatal illness caused by a bacterial toxin different bacterial toxins may cause toxic shock syndrome depending on the situation the caus￭ ative bacteria include stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us where t￭ ss is caused by enter￭ o￭ toxin type b or ts￭ st 1 and st￭ rep￭ to￭ co￭ cc￭ us py￭ o￭ genes where it is caused by st￭ rep￭ to￭ coc￭ cal pyro￭ genic exo￭ toxins st￭ rep￭ to￭ coc￭ cal t￭ ss is sometimes referred to as toxic shock like syndrome ts￭ ls or st￭ rep￭ to￭ coc￭ cal toxic shock syndrome st￭ ss
bacter￭ emia
bacter￭ emia also bacter￭ aemia is the presence of bacteria in the blood blood is normally a sterile environment so the detection of bacteria in the blood most commonly accomplished by blood cultures is always abnormal bacteria can enter the blood￭ stream as a severe complic￭ ation of infections like pneumonia or men￭ ing￭ i￭ tis during surgery especially when involving mu￭ co￭ us memb￭ ran￭ es such as the gastro￭ intest￭ inal tract or due to cathe￭ ters and other foreign bodies entering the arter￭ ies or ve￭ ins including during intra￭ ven￭ ous drug abuse
bacter￭ emia also bacter￭ aemia is the presence of bacteria in the blood blood is normally a sterile environment so the detection of bacteria in the blood most commonly accomplished by blood cultures is always abnormal bacteria can enter the blood￭ stream as a severe complic￭ ation of infections like pneumonia or men￭ ing￭ i￭ tis during surgery especially when involving mu￭ co￭ us memb￭ ran￭ es such as the gastro￭ intest￭ inal tract or due to cathe￭ ters and other foreign bodies entering the arter￭ ies or ve￭ ins including during intra￭ ven￭ ous drug abuse bacter￭ emia can have several consequences the immune response to the bacteria can cause sep￭ sis and se￭ ptic shock which has a relatively high mortality rate bacteria can also use the blood to spread to other parts of the body which is called hem￭ ato￭ genous spread causing infections away from the original site of infection examples include endo￭ cardi￭ tis or o￭ ste￭ om￭ ye￭ li￭ tis treatment is with antibiotics and prevention with antibiotic pro￭ phy￭ lax￭ is can be given in situations where problems are to be expected
sy￭ phil￭ is
sy￭ phil￭ is is a sexually transmitted infection caused by the bacter￭ ium tre￭ pon￭ ema palli￭ dum sub￭ species palli￭ dum the signs and symptoms of sy￭ phil￭ is vary depending in which of the four stages it presents primary secondary latent and tertiary the primary stage class￭ ically presents with a single chan￭ cre a firm pain￭ less non it￭ chy skin ul￭ cer￭ ation but there may be multiple so￭ res in secondary sy￭ phil￭ is a diffuse rash occurs which frequently involves the pal￭ ms of the hands and sol￭ es of the feet there may also be so￭ res in the mouth or vag￭ ina in latent sy￭ phil￭ is which can last for years there are little to no symptoms in tertiary sy￭ phil￭ is there are g￭ um￭ mas soft non can￭ cer￭ ous grow￭ ths neuro￭ logical or heart symptoms sy￭ phil￭ is has been known as the great im￭ it￭ ator as it may cause symptoms
sy￭ phil￭ is is a sexually transmitted infection caused by the bacter￭ ium tre￭ pon￭ ema palli￭ dum sub￭ species palli￭ dum the signs and symptoms of sy￭ phil￭ is vary depending in which of the four stages it presents primary secondary latent and tertiary the primary stage class￭ ically presents with a single chan￭ cre a firm pain￭ less non it￭ chy skin ul￭ cer￭ ation but there may be multiple so￭ res in secondary sy￭ phil￭ is a diffuse rash occurs which frequently involves the pal￭ ms of the hands and sol￭ es of the feet there may also be so￭ res in the mouth or vag￭ ina in latent sy￭ phil￭ is which can last for years there are little to no symptoms in tertiary sy￭ phil￭ is there are g￭ um￭ mas soft non can￭ cer￭ ous grow￭ ths neuro￭ logical or heart symptoms sy￭ phil￭ is has been known as the great im￭ it￭ ator as it may cause symptoms similar to many other diseases sy￭ phil￭ is is most commonly spread through sexual activity it may also be transmitted from mother to baby during pregnancy or at birth resulting in con￭ genital sy￭ phil￭ is other human diseases caused by related tre￭ pon￭ ema palli￭ dum sub￭ species include ya￭ ws sub￭ species per￭ ten￭ ue p￭ int￭ a sub￭ species car￭ at￭ eu￭ m and be￭ j￭ el sub￭ species end￭ em￭ ic￭ um diagnosis is usually made by using blood tests the bacteria can also be detected using dark field micro￭ sco￭ py the center for disease control recommends all pregnant women be tested the risk of sy￭ phil￭ is can be decreased by lat￭ ex con￭ dom use or not having sex sy￭ phil￭ is can be effectively treated with antibiotics the preferred antibiotic for most cases is benz￭ ath￭ ine pen￭ ic￭ ill￭ in g injected into a muscle in those who have a severe pen￭ ic￭ ill￭ in allergy do￭ xy￭ cycl￭ ine or te￭ trac￭ ycl￭ ine may be used in those with neuro￭ sy￭ phil￭ is intra￭ ven￭ ous pen￭ ic￭ ill￭ in g potassium or ce￭ f￭ tri￭ ax￭ one is recommended during treatment people may develop fever headache and muscle pains a reaction known as j￭ aris￭ ch her￭ x￭ he￭ imer in 2012 about 0 5 of adults were infected with sy￭ phil￭ is with 6 million new cases during 2010 it caused about 113 000 deaths down from 202 000 in 1990 after decreasing dramatically with the availability of pen￭ ic￭ ill￭ in in the 1940 s rates of infection have increased since the turn of the millennium in many countries often in combination with human immun￭ o￭ deficiency virus hiv this is believed to be partly due to increased promis￭ cu￭ ity prostitution decreasing use of condoms and unsafe sexual practices among men who have sex with men in 2015 cuba became the first country in the world to eliminate mother to child transmission of sy￭ phil￭ is
con￭ dy￭ lo￭ ma
general pa￭ res￭ is of the insane
general pa￭ res￭ is also known as general paralysis of the insane or paraly￭ tic dementia is a severe neuro￭ psychiatric disorder classified as an organic mental disorder and caused by the chronic men￭ in￭ go￭ en￭ ce￭ ph￭ ali￭ tis that leads to cere￭ br￭ al atro￭ phy in late stage sy￭ phil￭ is degenerative changes are associated primarily with the frontal and temporal lob￭ ar cor￭ tex the disease affects approximately 7 of infected individuals it prevails among men
arg￭ y￭ ll rober￭ t￭ son pupil
arg￭ y￭ ll rober￭ t￭ son pupils ar pupils or col￭ lo￭ qu￭ ially prostitute s pupils are bilateral small pupils that reduce in size on a near object i e they accommodate but do not con￭ strict when exposed to bright light i e they do not react to light they are a highly specific sign of neuro￭ sy￭ phil￭ is however arg￭ y￭ ll rober￭ t￭ son pupils may also be a sign of diabe￭ tic neuro￭ pa￭ thy in general pupils that accommodate but do not react are said to show light near dissoci￭ ation i e it is the absence of a mi￭ otic reaction to light both direct and consensual with the preservation of a mi￭ otic reaction to near stimulus accommodation convergence
arg￭ y￭ ll rober￭ t￭ son pupils ar pupils or col￭ lo￭ qu￭ ially prostitute s pupils are bilateral small pupils that reduce in size on a near object i e they accommodate but do not con￭ strict when exposed to bright light i e they do not react to light they are a highly specific sign of neuro￭ sy￭ phil￭ is however arg￭ y￭ ll rober￭ t￭ son pupils may also be a sign of diabe￭ tic neuro￭ pa￭ thy in general pupils that accommodate but do not react are said to show light near dissoci￭ ation i e it is the absence of a mi￭ otic reaction to light both direct and consensual with the preservation of a mi￭ otic reaction to near stimulus accommodation convergence ar pupils are extremely un￭ common in the developed world there is continued interest in the underlying path￭ op￭ hy￭ si￭ ology but the scarcity of cases makes ongoing research difficult
gon￭ or￭ rhe￭ a
gon￭ or￭ rhe￭ a also spelled gon￭ or￭ rho￭ ea is a sexually transmitted infection caused by the bacter￭ ium ne￭ is￭ ser￭ ia gon￭ or￭ rho￭ e￭ ae many people have no symptoms men may have burning with ur￭ ination discharge from the penis or tes￭ tic￭ ular pain women may have burning with ur￭ ination vag￭ inal discharge vag￭ inal bleeding between periods or pel￭ vic pain complications in women include pel￭ vic infl￭ am￭ matory disease and in men include infl￭ amm￭ ation of the epi￭ di￭ dy￭ mis if untreated gon￭ or￭ rhe￭ a can occasionally spread to affect joints or heart valves
ne￭ on￭ atal con￭ junc￭ ti￭ vi￭ tis
ne￭ on￭ atal con￭ junc￭ ti￭ vi￭ tis also known as oph￭ thal￭ mia ne￭ on￭ at￭ orum is a form of con￭ junc￭ ti￭ vi￭ tis and a type of ne￭ on￭ atal infection contracted by new￭ bor￭ ns during delivery the baby s eyes are contaminated during passage through the birth canal from a mother infected with either ne￭ is￭ ser￭ ia gon￭ or￭ rho￭ e￭ ae or ch￭ lam￭ y￭ dia tr￭ ach￭ om￭ atis antibiotic o￭ int￭ ment is typically applied to the new￭ born s eyes within 1 hour of birth as prevention against gon￭ o￭ coc￭ cal oph￭ thal￭ mia if left untreated it can cause blindness
lymp￭ ho￭ gran￭ ul￭ oma v￭ ener￭ eu￭ m
lymp￭ ho￭ gran￭ ul￭ oma v￭ ener￭ eu￭ m lg￭ v also known as climatic bub￭ o dur￭ and – nicolas – fav￭ re disease por￭ ad￭ eni￭ tis ingu￭ in￭ ale and str￭ um￭ ous bub￭ o is a sexually transmitted disease caused by the invasive ser￭ ov￭ ars l 1 l 2 l 2 a or l 3 of ch￭ lam￭ y￭ dia tr￭ ach￭ om￭ atis in developed nations it was considered rare before 2003 however a recent outbreak in the netherlands among gay men has led to an increase of lg￭ v in europe and the united states a majority of these patients are hiv co infected
ch￭ lam￭ y￭ dia infection
ch￭ lam￭ y￭ dia infection often simply known as ch￭ lam￭ y￭ dia is a sexually transmitted infection caused by the bacter￭ ium ch￭ lam￭ y￭ dia tr￭ ach￭ om￭ atis most people who are infected have no symptoms when symptoms do develop this can take a few weeks following infection to occur symptoms in women may include vag￭ inal discharge or burning with ur￭ ination symptoms in men may include discharge from the penis burning with ur￭ ination or pain and sw￭ elling of one or both tes￭ tic￭ les the infection can spread to the upper genital tract in women causing pel￭ vic infl￭ am￭ matory disease which may result in future in￭ fertility or ec￭ topic pregnancy repeated infections of the eyes that go without treatment can result in tr￭ ach￭ oma a common cause of blindness in the developing world
ch￭ lam￭ y￭ dia infection often simply known as ch￭ lam￭ y￭ dia is a sexually transmitted infection caused by the bacter￭ ium ch￭ lam￭ y￭ dia tr￭ ach￭ om￭ atis most people who are infected have no symptoms when symptoms do develop this can take a few weeks following infection to occur symptoms in women may include vag￭ inal discharge or burning with ur￭ ination symptoms in men may include discharge from the penis burning with ur￭ ination or pain and sw￭ elling of one or both tes￭ tic￭ les the infection can spread to the upper genital tract in women causing pel￭ vic infl￭ am￭ matory disease which may result in future in￭ fertility or ec￭ topic pregnancy repeated infections of the eyes that go without treatment can result in tr￭ ach￭ oma a common cause of blindness in the developing world ch￭ lam￭ y￭ dia can be spread during vag￭ inal anal or oral sex and can be passed from an infected mother to her baby during childbirth the eye infections may also be spread by personal contact flies and contaminated to￭ wels in areas with poor sanitation ch￭ lam￭ y￭ dia tr￭ ach￭ om￭ atis only occurs in humans diagnosis is often by screening which is recommended yearly in sexually active women under the age of twenty five others at higher risk and at the first pre￭ natal visit testing can be done on the urine or a sw￭ ab of the cer￭ vi￭ x vag￭ ina or u￭ re￭ th￭ ra rec￭ tal or mouth sw￭ abs are required to diagnose infections in those areas prevention is by not having sex using condoms or having sex with only one other person who is not infected ch￭ lam￭ y￭ dia can be cured by antibiotics with typically either azi￭ thro￭ my￭ cin or do￭ xy￭ cycl￭ ine being used er￭ y￭ thro￭ my￭ cin or azi￭ thro￭ my￭ cin is recommended in babies and during pregnancy sexual partners should also be treated and the infected people advised not to have sex for seven days and until symptom free gon￭ or￭ rhe￭ a sy￭ phil￭ is and hiv should be tested for in those who have been infected following treatment people should be tested again after three months ch￭ lam￭ y￭ dia is one of the most common sexually transmitted infections worldwide affecting about 4 2 of women and 2 7 of men in 2013 about 141 million new cases occurred globally in the united states about 1 4 million cases were reported in 2014 infections are most common among those between the ages of 15 and 25 and are more common in women than men in 2013 infections resulted in about 1 100 deaths the word ch￭ lam￭ y￭ dia is from the greek χ￭ λα￭ μ￭ ύ￭ δ￭ α meaning cloak
chan￭ cro￭ id
chan￭ cro￭ id also known as soft chan￭ cre and ul￭ cus mol￭ le is a bacterial sexually transmitted infection characterized by painful so￭ res on the gen￭ italia chan￭ cro￭ id is known to spread from one individual to another solely through sexual contact
gran￭ ul￭ oma ingu￭ in￭ ale
gran￭ ul￭ oma ingu￭ in￭ ale also known as don￭ o￭ van￭ osis is a bacterial disease caused by kle￭ b￭ si￭ ella gran￭ ul￭ om￭ atis formerly known as cal￭ ym￭ mat￭ ob￭ ac￭ ter￭ ium gran￭ ul￭ om￭ atis characterized by ul￭ cer￭ ative genital le￭ sions it is endemic in many less developed regions it is also known as don￭ o￭ van￭ osis gran￭ ul￭ oma gen￭ ito￭ ingu￭ in￭ ale gran￭ ul￭ oma ingu￭ in￭ ale tro￭ pic￭ um gran￭ ul￭ oma v￭ ener￭ eu￭ m gran￭ ul￭ oma v￭ ener￭ eu￭ m gen￭ ito￭ ingu￭ in￭ ale lu￭ po￭ id form of gro￭ in ul￭ cer￭ ation ser￭ pi￭ gin￭ ous ul￭ cer￭ ation of the gro￭ in ul￭ cer￭ ating gran￭ ul￭ oma of the pu￭ den￭ dum and ul￭ cer￭ ating s￭ cl￭ ero￭ sing gran￭ ul￭ oma
gran￭ ul￭ oma ingu￭ in￭ ale also known as don￭ o￭ van￭ osis is a bacterial disease caused by kle￭ b￭ si￭ ella gran￭ ul￭ om￭ atis formerly known as cal￭ ym￭ mat￭ ob￭ ac￭ ter￭ ium gran￭ ul￭ om￭ atis characterized by ul￭ cer￭ ative genital le￭ sions it is endemic in many less developed regions it is also known as don￭ o￭ van￭ osis gran￭ ul￭ oma gen￭ ito￭ ingu￭ in￭ ale gran￭ ul￭ oma ingu￭ in￭ ale tro￭ pic￭ um gran￭ ul￭ oma v￭ ener￭ eu￭ m gran￭ ul￭ oma v￭ ener￭ eu￭ m gen￭ ito￭ ingu￭ in￭ ale lu￭ po￭ id form of gro￭ in ul￭ cer￭ ation ser￭ pi￭ gin￭ ous ul￭ cer￭ ation of the gro￭ in ul￭ cer￭ ating gran￭ ul￭ oma of the pu￭ den￭ dum and ul￭ cer￭ ating s￭ cl￭ ero￭ sing gran￭ ul￭ oma the disease often goes untreated because of the scarcity of medical treatment in the countries in which it is found in addition the pain￭ less genital ul￭ cers can be mistaken for sy￭ phil￭ is the ul￭ cers ultimately progress to destruction of internal and external tissue with extensive leakage of m￭ uc￭ us and blood from the highly vascular le￭ sions the destructive nature of don￭ o￭ van￭ osis also increases the risk of super￭ infection by other pathogenic microbes
tric￭ hom￭ oni￭ asis
tric￭ hom￭ oni￭ asis is an infectious disease caused by the parasite tric￭ hom￭ onas vag￭ in￭ alis about 70 of women and men do not have symptoms when infected when symptoms do occur they typically begin 5 to 28 days after exposure symptoms can include it￭ ching in the genital area a bad sm￭ elling thin vag￭ inal discharge burning with ur￭ ination and pain with sex having tric￭ hom￭ oni￭ asis increases the risk of getting hiv aids it may also cause complications during pregnancy
her￭ pes simpl￭ ex
her￭ pes simpl￭ ex greek ἕ￭ ρ￭ π￭ ης her￭ p￭ ē￭ s creeping or latent is a viral disease caused by the her￭ pes simpl￭ ex virus infections are categ￭ orized based on the part of the body infected oral her￭ pes involves the face or mouth it may result in small bl￭ is￭ ters in groups often called cold so￭ res or fever bl￭ is￭ ters or may just cause a sore throat genital her￭ pes often simply known as her￭ pes may have minimal symptoms or form bl￭ is￭ ters that break open and result in small ul￭ cers these typically heal over two to four weeks ting￭ ling or shooting pains may occur before the bl￭ is￭ ters appear her￭ pes cycles between periods of active disease followed by periods without symptoms the first episode is often more severe and may be associated with fever muscle pains sw￭ oll￭ en lymp￭ h no￭ des and headaches over time
her￭ pes simpl￭ ex greek ἕ￭ ρ￭ π￭ ης her￭ p￭ ē￭ s creeping or latent is a viral disease caused by the her￭ pes simpl￭ ex virus infections are categ￭ orized based on the part of the body infected oral her￭ pes involves the face or mouth it may result in small bl￭ is￭ ters in groups often called cold so￭ res or fever bl￭ is￭ ters or may just cause a sore throat genital her￭ pes often simply known as her￭ pes may have minimal symptoms or form bl￭ is￭ ters that break open and result in small ul￭ cers these typically heal over two to four weeks ting￭ ling or shooting pains may occur before the bl￭ is￭ ters appear her￭ pes cycles between periods of active disease followed by periods without symptoms the first episode is often more severe and may be associated with fever muscle pains sw￭ oll￭ en lymp￭ h no￭ des and headaches over time episodes of active disease decrease in frequency and severity other disorders caused by her￭ pes simpl￭ ex include her￭ pe￭ tic whit￭ low when it involves the fingers her￭ pes of the eye her￭ pes infection of the brain and ne￭ on￭ atal her￭ pes when it affects a new￭ born among others there are two types of her￭ pes simpl￭ ex virus type 1 h￭ sv 1 and type 2 h￭ sv 2 h￭ sv 1 more commonly causes oral infections while h￭ sv 2 more commonly causes genital infections they are transmitted by direct contact with body fluids or le￭ sions of an infected individual transmission may still occur when symptoms are not present genital her￭ pes is classified as a sexually transmitted infection it may be spread to an infant during childbirth after infection the viruses are transported along sensory nerves to the nerve cell bodies where they reside lifelong causes of recurrence may include decreased immune function stress and sunlight exposure oral and genital her￭ pes is usually diagnosed based on the presenting symptoms the diagnosis may be confirmed by viral culture or detecting her￭ pes dna in fluid from bl￭ is￭ ters testing the blood for antibodies against the virus can confirm a previous infection but will be negative in new infections the most effective method of avoiding genital infections is by avoiding vag￭ inal oral and anal sex con￭ dom use decreases the risk somewhat daily anti￭ viral medication taken by someone who has the infection can also reduce spread there is no available vaccine and once infected there is no cure par￭ acet￭ am￭ ol acet￭ amin￭ oph￭ en and topical li￭ doc￭ aine may be used to help with the symptoms treatments with anti￭ viral medication such as ac￭ ic￭ lo￭ vi￭ r or val￭ ac￭ ic￭ lo￭ vi￭ r can lessen the severity of symptomatic episodes worldwide rates of either h￭ sv 1 or h￭ sv 2 are between 60 and 95 in adults h￭ sv 1 is usually acquired during childhood rates of both increase as people age rates of h￭ sv 1 are between 70 and 80 in populations of low socioeconomic status and 40 to 60 in populations of improved socioeconomic status an estimated 536 million people worldwide 16 of the population were infected with h￭ sv 2 as of 2003 with greater rates among women and those in the developing world most people with h￭ sv 2 do not realize that they are infected
genital wart
genital war￭ ts are symptoms of a contagious sexually transmitted disease caused by some types of human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v war￭ ts are the most easily recognized symptom of genital h￭ p￭ v infection about 90 of those who contract h￭ p￭ v will not develop genital war￭ ts and the remaining 10 who are infected can transmit the virus the some h￭ p￭ v vaccines includes coverage for types 6 and 11 and therefore can prevent genital war￭ ts it is also possible to be infected with different types of h￭ p￭ v either at the same or different times
sexually transmitted infection
sexual disease re￭ directs here it is not to be confused with sexual dysfunction sexually transmitted infections sti also referred to as sexually transmitted diseases st￭ d and ven￭ ere￭ al diseases vd are infections that are commonly spread by sex especially vag￭ inal inter￭ course anal sex and oral sex most stis initially do not cause symptoms this results in a greater risk of passing the disease on to others symptoms and signs of disease may include vag￭ inal discharge pen￭ ile discharge ul￭ cers on or around the gen￭ itals and pel￭ vic pain stis acquired before or during birth may result in poor outcomes for the baby some stis may cause problems with the ability to get pregnant
sexual disease re￭ directs here it is not to be confused with sexual dysfunction sexually transmitted infections sti also referred to as sexually transmitted diseases st￭ d and ven￭ ere￭ al diseases vd are infections that are commonly spread by sex especially vag￭ inal inter￭ course anal sex and oral sex most stis initially do not cause symptoms this results in a greater risk of passing the disease on to others symptoms and signs of disease may include vag￭ inal discharge pen￭ ile discharge ul￭ cers on or around the gen￭ itals and pel￭ vic pain stis acquired before or during birth may result in poor outcomes for the baby some stis may cause problems with the ability to get pregnant more than 30 different bacteria viruses and parasites can cause stis bacterial stis include ch￭ lam￭ y￭ dia gon￭ or￭ rhe￭ a and sy￭ phil￭ is among others viral stis include genital her￭ pes hiv aids and genital war￭ ts among others par￭ asi￭ tic stis include tric￭ hom￭ oni￭ asis among others while usually spread by sex some stis can also be spread by non sexual contact with contaminated blood and tissues breastfeeding or during childbirth sti diagnostic tests are easily available in the developed world but this is often not the case in the developing world the most effective way of preventing stis is by not having sex some vaccinations may also decrease the risk of certain infections including hepatitis b and some types of h￭ p￭ v safer sex practices such as use of condoms having a smaller number of sexual partners and being in a relationship where each person only has sex with the other also decreases the risk circumcision in males may be effective to prevent some infections most stis are treat￭ able or cur￭ able of the most common infections sy￭ phil￭ is gon￭ or￭ rhe￭ a ch￭ lam￭ y￭ dia tric￭ hom￭ oni￭ asis are cur￭ able while her￭ pes hepatitis b hiv aids and h￭ p￭ v are treat￭ able but not cur￭ able resistance to certain antibiotics is developing among some organisms such as gon￭ or￭ rhe￭ a in 2008 it was estimated that 500 million people were infected with either sy￭ phil￭ is gon￭ or￭ rhe￭ a ch￭ lam￭ y￭ dia or tric￭ hom￭ oni￭ asis at least an additional 530 million people have genital her￭ pes and 290 million women have human pap￭ il￭ lo￭ ma￭ virus stis other than hiv resulted in 142 000 deaths in 2013 in the united states there were 19 million new cases of sexually transmitted infections in 2010 historical documentation of stis date back to at least the e￭ bers pap￭ y￭ rus around 15￭ 50 bc and the old testament there is often shame and stigma associated with these infections the term sexually transmitted infection is generally preferred over the terms sexually transmitted disease and ven￭ ere￭ al disease as it includes those who do not have symptomatic disease
non￭ ven￭ ere￭ al endemic sy￭ phil￭ is
be￭ j￭ el or endemic sy￭ phil￭ is is a chronic skin and tissue disease caused by infection by the end￭ em￭ ic￭ um sub￭ species of the spi￭ ro￭ che￭ te tre￭ pon￭ ema palli￭ dum be￭ j￭ el is also known by a variety of other names including bel￭ esh dic￭ hu￭ ch￭ wa endemic sy￭ phil￭ is non￭ ven￭ ere￭ al sy￭ phil￭ is fren￭ ga n￭ jo￭ vera sk￭ er￭ l￭ j￭ evo si￭ ti or tre￭ pon￭ em￭ at￭ osis be￭ j￭ el type
ya￭ ws
ya￭ ws is a tropical infection of the skin bones and joints caused by the spi￭ ro￭ che￭ te bacter￭ ium tre￭ pon￭ ema palli￭ dum per￭ ten￭ ue the disease begins with a round hard sw￭ elling of the skin 2 to 5 centi￭ meters in diameter the center may break open and form an ul￭ cer this initial skin le￭ sion typically he￭ als after three to six months after weeks to years joints and bones may become painful fatigue may develop and new skin le￭ sions may appear the skin of the pal￭ ms of the hands and the sol￭ es of the feet may become thick and break open the bones especially those of the nose may become mis￭ shap￭ en after five years or more large areas of skin may die leaving a scar
p￭ int￭ a disease
acute necro￭ tizing ul￭ cer￭ ative g￭ ing￭ i￭ vi￭ tis
acute necro￭ tizing ul￭ cer￭ ative g￭ ing￭ i￭ vi￭ tis anu￭ g col￭ lo￭ qu￭ ially known as tren￭ ch mouth is a common non contagious infection of the g￭ ums with sudden onset the main features are painful bleeding g￭ ums and ul￭ cer￭ ation of inter dental pap￭ il￭ la￭ e the sections of gum between adjacent teeth this disease along with necro￭ tizing ul￭ cer￭ ative period￭ on￭ ti￭ tis n￭ p or n￭ up is classified as a necro￭ tizing period￭ on￭ tal disease one of the seven general types of period￭ on￭ ti￭ tis the often severe g￭ ing￭ i￭ val pain that characterizes anu￭ g distinguishes it from the more common chronic period￭ on￭ ti￭ tis which is rarely painful anu￭ g is the acute presentation of necro￭ tizing ul￭ cer￭ ative g￭ ing￭ i￭ vi￭ tis nu￭ g which is the usual course the disease takes if improperly treated or neglected nu￭ g may become chronic and or recurrent th
acute necro￭ tizing ul￭ cer￭ ative g￭ ing￭ i￭ vi￭ tis anu￭ g col￭ lo￭ qu￭ ially known as tren￭ ch mouth is a common non contagious infection of the g￭ ums with sudden onset the main features are painful bleeding g￭ ums and ul￭ cer￭ ation of inter dental pap￭ il￭ la￭ e the sections of gum between adjacent teeth this disease along with necro￭ tizing ul￭ cer￭ ative period￭ on￭ ti￭ tis n￭ p or n￭ up is classified as a necro￭ tizing period￭ on￭ tal disease one of the seven general types of period￭ on￭ ti￭ tis the often severe g￭ ing￭ i￭ val pain that characterizes anu￭ g distinguishes it from the more common chronic period￭ on￭ ti￭ tis which is rarely painful anu￭ g is the acute presentation of necro￭ tizing ul￭ cer￭ ative g￭ ing￭ i￭ vi￭ tis nu￭ g which is the usual course the disease takes if improperly treated or neglected nu￭ g may become chronic and or recurrent the caus￭ ative organisms are mostly an￭ aer￭ ob￭ ic bacteria particularly fus￭ ob￭ ac￭ ter￭ ia and spi￭ ro￭ ca￭ ete species pre￭ disposing factors include poor oral hygiene smoking malnutrition psychological stress and immun￭ o￭ suppression sub optimal functioning of the immune system when the attachments of the teeth to the bone are involved the term n￭ up is used treatment of anu￭ g is by debri￭ d￭ ement although pain may prevent this and antibiotics usually met￭ ron￭ id￭ azole in the acute phase and improving oral hygiene to prevent recurrence although the condition has a rapid onset and is deb￭ il￭ itating it usually resol￭ ves quickly and does no serious harm the synon￭ ym tren￭ ch mouth arose during world war i as many soldiers developed the disease probably because of the poor conditions and extreme psychological stress
ly￭ me disease
ly￭ me disease also known as ly￭ me bor￭ reli￭ osis is an infectious disease caused by bacteria of the bor￭ reli￭ a type the most common sign of infection is an expanding area of red￭ ness known as er￭ y￭ them￭ a migr￭ ans that begins at the site of a tick bite about a week after it has occurred the rash is typically neither it￭ chy nor painful approximately 25 – 50 of infected people do not develop a rash other early symptoms may include fever headache and feeling tired if untreated symptoms may include loss of the ability to move one or both sides of the face joint pains severe headaches with neck sti￭ ff￭ ness or heart pal￭ p￭ itations among others months to years later repeated episodes of joint pain and sw￭ elling may occur occasionally people develop shooting pains or ting￭ ling in their arms and legs
p￭ sit￭ ta￭ co￭ sis
p￭ sit￭ ta￭ co￭ sis — also known as par￭ rot fever and or￭ ni￭ th￭ osis — is a zoonotic infectious disease caused by a bacter￭ ium called ch￭ lam￭ y￭ d￭ oph￭ ila p￭ sit￭ tac￭ i and contracted from infected par￭ rots such as mac￭ a￭ ws cock￭ ati￭ els and bud￭ ger￭ ig￭ ars and pigeons spar￭ rows ducks hens gul￭ ls and many other species of bird the incidence of infection in canaries and fin￭ ches is believed to be lower than in p￭ sit￭ tac￭ ine birds
tr￭ ach￭ oma
tr￭ ach￭ oma also called gran￭ ular con￭ junc￭ ti￭ vi￭ tis egyptian oph￭ thal￭ mia and blin￭ ding tr￭ ach￭ oma is an infectious disease caused by bacter￭ ium ch￭ lam￭ y￭ dia tr￭ ach￭ om￭ atis the infection causes a rough￭ ening of the inner surface of the eye￭ li￭ ds this rough￭ ening can lead to pain in the eyes breakdown of the outer surface or cor￭ ne￭ a of the eyes and possibly blindness untreated repeated tr￭ ach￭ oma infections can result in a form of permanent blindness when the eye￭ li￭ ds turn inward
ty￭ ph￭ us
ty￭ ph￭ us is any of several similar diseases caused by ric￭ ke￭ tt￭ sia bacteria the name comes from the greek ty￭ ph￭ us τ￭ ύ￭ φ￭ ος meaning smo￭ ky or haz￭ y describing the state of mind of those affected with ty￭ ph￭ us the caus￭ ative organism ric￭ ke￭ tt￭ sia is an oblig￭ ate in￭ trac￭ ell￭ ular par￭ asi￭ tic bacter￭ ium that cannot survive for long outside living cells it is transmitted to humans via external parasites such as lic￭ e fle￭ as and tic￭ ks while typ￭ ho￭ id means ty￭ ph￭ us like ty￭ ph￭ us and typ￭ ho￭ id fever are distinct diseases caused by different genera of bacteria
scru￭ b ty￭ ph￭ us
rocky mountain spotted fever
rocky mountain spotted fever r￭ m￭ sf also known as blue disease is the most lethal and most frequently reported ric￭ ke￭ tt￭ si￭ al illness in the united states it has been diagnosed throughout the americas some synon￭ y￭ ms for rocky mountain spotted fever in other countries include “ tick ty￭ ph￭ us ” “ to￭ bia fever ” colombia “ são paulo fever ” or “ fe￭ bre mac￭ ul￭ osa ” brazil and “ fi￭ eb￭ re man￭ ch￭ ada ” mexico it is distinct from the viral tick borne infection colorado tick fever the disease is caused by ric￭ ke￭ tt￭ sia ric￭ ke￭ tt￭ si￭ i a species of bacter￭ ium that is spread to humans by der￭ mac￭ ent￭ or tic￭ ks initial signs and symptoms of the disease include sudden onset of fever headache and muscle pain followed by development of rash the disease can be difficult to diagnose in the early stages and without pro￭ mp
b￭ out￭ on￭ ne￭ use fever
b￭ out￭ on￭ ne￭ use fever also called mediterranean spotted fever fi￭ è￭ vre b￭ out￭ on￭ ne￭ use kenya tick ty￭ ph￭ us indian tick ty￭ ph￭ us marseilles fever or african tick bite fever is a fever as a result of a ric￭ ke￭ tt￭ si￭ al infection caused by the bacter￭ ium ric￭ ke￭ tt￭ sia con￭ ori￭ i and transmitted by the dog tick r￭ hi￭ pic￭ ep￭ hal￭ us san￭ guin￭ eus b￭ out￭ on￭ ne￭ use fever can be seen in many places around the world although it is endemic in countries surrounding the mediterranean sea this disease was first described in tunisia in 19￭ 10 by con￭ or and bru￭ ch and was named b￭ out￭ on￭ ne￭ use french for spot￭ ty due to its pap￭ ular skin rash characteristics
african tick bite fever
african tick bite fever is a bacterial infection transmitted by the am￭ bl￭ y￭ om￭ ma der￭ mac￭ ent￭ or or the r￭ hi￭ pic￭ ep￭ hal￭ us family of tic￭ ks it is caused by the ric￭ ke￭ tt￭ sia afric￭ ae bacter￭ ium the incub￭ ation period of the disease is from 5 to 7 days and symptoms include fever headache and a skin rash the rash is characterized by scant le￭ sions often mac￭ ular and or vesicular
q fever
tren￭ ch fever
tren￭ ch fever also known as five day fever quint￭ an fever fe￭ bris quint￭ ana in latin and urban tren￭ ch fever is a moderately serious disease transmitted by body lic￭ e it infected armies in flanders france poland galicia italy sal￭ oni￭ ka macedonia mes￭ o￭ pot￭ amia and egypt in world war i three noted sufferers being the authors j r r tol￭ ki￭ en a a mil￭ ne and c s lewis and the german army in russia during world war i from 1915 to 1918 between one fifth and one third of all british troops reported ill had tren￭ ch fever while about one fifth of ill german and austrian troops had the disease the disease persists among the homeless outbreaks have been documented for example in seattle and baltimore in the united states among injection drug users and in marseille france and bu
tren￭ ch fever also known as five day fever quint￭ an fever fe￭ bris quint￭ ana in latin and urban tren￭ ch fever is a moderately serious disease transmitted by body lic￭ e it infected armies in flanders france poland galicia italy sal￭ oni￭ ka macedonia mes￭ o￭ pot￭ amia and egypt in world war i three noted sufferers being the authors j r r tol￭ ki￭ en a a mil￭ ne and c s lewis and the german army in russia during world war i from 1915 to 1918 between one fifth and one third of all british troops reported ill had tren￭ ch fever while about one fifth of ill german and austrian troops had the disease the disease persists among the homeless outbreaks have been documented for example in seattle and baltimore in the united states among injection drug users and in marseille france and burundi tren￭ ch fever is also called wol￭ hy￭ nia fever shin bone fever me￭ use fever his disease and his – wer￭ ner disease after wil￭ helm his jr and hein￭ rich wer￭ ner the disease is caused by the bacter￭ ium bar￭ ton￭ ella quint￭ ana older names ro￭ ch￭ alim￭ ea quint￭ ana ric￭ ke￭ tt￭ sia quint￭ ana found in the stomach walls of the body lou￭ se bar￭ ton￭ ella quint￭ ana is closely related to bar￭ ton￭ ella hen￭ sel￭ ae the agent of cat scratch fever and bac￭ ill￭ ary an￭ gi￭ om￭ at￭ osis
human gran￭ ul￭ oc￭ y￭ tic an￭ ap￭ las￭ mo￭ sis
human gran￭ ul￭ oc￭ y￭ tic an￭ ap￭ las￭ mo￭ sis h￭ ga is a tick borne infectious disease caused by an￭ ap￭ las￭ ma p￭ ha￭ go￭ cy￭ top￭ hil￭ um an oblig￭ ate in￭ trac￭ ell￭ ular bacter￭ ium that is typically transmitted to humans by tic￭ ks of the i￭ x￭ o￭ des ric￭ in￭ us species complex including i￭ x￭ o￭ des s￭ cap￭ ul￭ aris and i￭ x￭ o￭ des pac￭ ific￭ us in north america these tic￭ ks also transmit ly￭ me disease and other tick borne diseases the bacteria infect white blood cells called neu￭ troph￭ ils causing changes in gene expression that prolong the life of these otherwise short lived cells
poli￭ om￭ ye￭ li￭ tis
poli￭ om￭ ye￭ li￭ tis often called polio or inf￭ anti￭ le paralysis is an infectious disease caused by the poli￭ o￭ virus in about 0 5 of cases there is muscle weakness resulting in an inability to move this can occur over a few hours to few days the weakness most often involves the legs but may less commonly involve the muscles of the head neck and di￭ aphr￭ ag￭ m many but not all people fully recover in those with muscle weakness about 2 to 5 of children and 15 to 30 of adults die another 25 of people have minor symptoms such as fever and a sore throat and up to 5 have headache neck sti￭ ff￭ ness and pains in the arms and legs these people are usually back to normal within one or two weeks in up to 70 of infections there are no symptoms years after recovery post polio syndrome may occur with
poli￭ om￭ ye￭ li￭ tis often called polio or inf￭ anti￭ le paralysis is an infectious disease caused by the poli￭ o￭ virus in about 0 5 of cases there is muscle weakness resulting in an inability to move this can occur over a few hours to few days the weakness most often involves the legs but may less commonly involve the muscles of the head neck and di￭ aphr￭ ag￭ m many but not all people fully recover in those with muscle weakness about 2 to 5 of children and 15 to 30 of adults die another 25 of people have minor symptoms such as fever and a sore throat and up to 5 have headache neck sti￭ ff￭ ness and pains in the arms and legs these people are usually back to normal within one or two weeks in up to 70 of infections there are no symptoms years after recovery post polio syndrome may occur with a slow development of muscle weakness similar to that which the person had during the initial infection poli￭ o￭ virus is usually spread from person to person through infected f￭ ec￭ al matter entering the mouth it may also be spread by food or water containing human f￭ ec￭ es and less commonly from infected sali￭ va those who are infected may spread the disease for up to six weeks even if no symptoms are present the disease may be diagnosed by finding the virus in the f￭ ec￭ es or detecting antibodies against it in the blood the disease only occurs naturally in humans the disease is preventable with the polio vaccine however a number of doses are required for it to be effective the us centers for disease control and prevention recommends polio vaccination boo￭ sters for travel￭ ers and those who live in countries where the disease is occurring once infected there is no specific treatment in 2015 polio affected less than 100 people down from 350 000 cases in 1988 in 2014 the disease was only spreading between people in afghanistan nigeria and pakistan in 2015 nigeria had stopped the spread of wild poli￭ o￭ virus but it re￭ occurred in 2016 poli￭ om￭ ye￭ li￭ tis has existed for thousands of years with depic￭ tions of the disease in ancient art the disease was first recognized as a distinct condition by michael under￭ wood in 17￭ 89 and the virus that causes it was first identified in 19￭ 08 by karl land￭ ste￭ iner major outbreaks started to occur in the late 19 th century in europe and the united states in the 20 th century it became one of the most worrying childhood diseases in these areas the first polio vaccine was developed in the 1950 s by jonas sal￭ k it is hoped that vaccination efforts and early detection of cases will result in global eradication of the disease by 2018
transmissible spongiform encephalopathy
transmissible spongiform encephalopathies tses also known as pri￭ on diseases are a group of progressive conditions that affect the brain encephalopathies and nervous system of many animals including humans according to the most widespread hypothesis they are transmitted by pri￭ ons though some other data suggest an involvement of a spi￭ ro￭ plasma infection mental and physical abilities deteriorate and myriad tiny holes appear in the cor￭ tex causing it to appear like a spon￭ ge hence spongiform when brain tissue obtained at autopsy is examined under a micro￭ scope the disorders cause impairment of brain function including memory changes personality changes and problems with movement that worsen over time pri￭ on diseases of humans include classic creutz￭ feldt – jakob disease new variant c
pri￭ on
a pri￭ on is an infectious agent composed entirely of protein material called pr￭ p short for pri￭ on protein that can fold in multiple structurally distinct ways at least one of which is transmissible to other pri￭ on proteins leading to disease that is similar to viral infection they are suspected to be the cause of transmissible spongiform encephalopathies tses among other diseases
a pri￭ on is an infectious agent composed entirely of protein material called pr￭ p short for pri￭ on protein that can fold in multiple structurally distinct ways at least one of which is transmissible to other pri￭ on proteins leading to disease that is similar to viral infection they are suspected to be the cause of transmissible spongiform encephalopathies tses among other diseases pri￭ ons were initially identified as the caus￭ ative agent in animal tses such as bovine spongiform encephalopathy bse — known popul￭ arly as mad cow disease — and scrapie in sheep human pri￭ on diseases include creutz￭ feldt – jakob disease cjd and its variant v￭ cjd ger￭ st￭ mann – str￭ ä￭ us￭ sl￭ er – sche￭ in￭ ker syndrome fatal famili￭ al in￭ som￭ nia and kur￭ u a 2015 study concluded that multiple system atro￭ phy m￭ sa a rare human neuro￭ degenerative disease is caused by a mis￭ fol￭ ded version of a protein called alpha sy￭ nucle￭ in and is therefore also classifiable as a pri￭ on disease several ye￭ ast proteins have been identified as having pri￭ on￭ ogenic properties as well a protein as a stand￭ alone infectious agent stands in contrast to all other known infectious agents such as viruses bacteria fun￭ gi and parasites all of which contain nucle￭ ic acids dna r￭ na or both for this reason a minority of researchers still consider the pri￭ on tse hypothesis un￭ proven all known pri￭ on diseases in mammals affect the structure of the brain or other ne￭ ural tissue all are currently un￭ treat￭ able and universally fatal pri￭ ons may propag￭ ate by transmitting their mis￭ fol￭ ded protein state when a pri￭ on enters a healthy organism it induc￭ es existing properly fol￭ ded proteins to convert into the mis￭ fol￭ ded pri￭ on form in this way the pri￭ on acts as a tem￭ plate to guide the mis￭ fol￭ ding of more proteins into pri￭ on form in ye￭ ast this ref￭ ol￭ ding is assisted by cha￭ per￭ one proteins such as h￭ sp 104 p these ref￭ ol￭ ded pri￭ ons can then go on to convert more proteins themselves leading to a chain reaction resulting in large amounts of the pri￭ on form all known pri￭ ons induce the formation of an amy￭ loid fold in which the protein poly￭ mer￭ ises into an aggregate consisting of tightly packed beta sheets amy￭ loid aggregates are fi￭ bri￭ ls growing at their ends and replic￭ ate when break￭ age causes two growing ends to become four growing ends the incub￭ ation period of pri￭ on diseases is determined by the exponential growth rate associated with pri￭ on replic￭ ation which is a balance between the linear growth and the break￭ age of aggregates the propagation of the pri￭ on depends on the presence of normally fol￭ ded protein in which the pri￭ on can induce mis￭ fol￭ ding animals that do not express the normal form of the pri￭ on protein can neither develop nor transmit the disease pri￭ on aggregates are extremely stable and accumulate in infected tissue causing tissue damage and cell death this structural stability means that pri￭ ons are resistant to den￭ atur￭ ation by chemical and physical agents making disposal and containment of these particles difficult pri￭ on structure varies slightly between species but nonetheless pri￭ on replic￭ ation is subject to occasional ep￭ im￭ u￭ tation and natural selection just like other forms of replic￭ ation
creutz￭ feldt – jakob disease
creutz￭ feldt – jakob disease cjd is a degenerative neuro￭ logical disease that is incur￭ able and invariably fatal cjd is at times called a human form of mad cow disease bovine spongiform encephalopathy or bse however given that bse is believed to be the cause of variant creutz￭ feldt – jakob disease v￭ cjd in humans the two are often confused
creutz￭ feldt – jakob disease cjd is a degenerative neuro￭ logical disease that is incur￭ able and invariably fatal cjd is at times called a human form of mad cow disease bovine spongiform encephalopathy or bse however given that bse is believed to be the cause of variant creutz￭ feldt – jakob disease v￭ cjd in humans the two are often confused cjd is caused by an infectious agent called a pri￭ on pri￭ ons are mis￭ fol￭ ded proteins that replic￭ ate by converting their properly fol￭ ded counterparts in their host to the same mis￭ fol￭ ded structure they possess cjd causes the brain tissue to degenerate rapidly and as the disease destroys the brain the brain develops holes and the tex￭ ture changes to resemble that of a kitchen spon￭ ge
progressive multi￭ focal leuko￭ encephalopathy
progressive multi￭ focal leuko￭ encephalopathy p￭ ml is a rare and usually fatal viral disease characterized by progressive damage pa￭ thy or infl￭ amm￭ ation of the white matter leuk￭ o of the brain encephal￭ o at multiple locations multi￭ focal it is caused by the j￭ c virus which is normally present and kept under control by the immune system j￭ c virus is harmless except in cases of weakened immune systems in general p￭ ml has a mortality rate of 30 – 50 percent in the first few months and those who survive can be left with varying degrees of neuro￭ logical disabilities
kur￭ u disease
kur￭ u is an incur￭ able degenerative neuro￭ logical disorder endemic to tribal regions of papua new guinea it is a type of transmissible spongiform encephalopathy caused by a pri￭ on found in humans the term kur￭ u derives from the fore word kur￭ ia or gur￭ ia to shake a reference to the body tre￭ mors that are a classic symptom of the disease it is also known among the fore as the laughing sickness due to the patho￭ logic bursts of laughter people would display when afflicted with the disease it is now widely accepted that kur￭ u was transmitted among members of the fore tribe of papua new guinea via fun￭ er￭ ary canni￭ b￭ alism
fatal famili￭ al in￭ som￭ nia
fatal famili￭ al in￭ som￭ nia ff￭ i is an extremely rare auto￭ som￭ al dominant inherited pri￭ on disease of the brain it is almost always caused by a mutation to the protein pr￭ pc but can also develop spontaneously in patients with a non inherited mutation variant called spor￭ adic fatal in￭ som￭ nia s￭ fi ff￭ i has no known cure and involves progressively worsening in￭ som￭ nia which leads to halluc￭ inations deli￭ ri￭ um and confu￭ sional states like that of dementia the average survival span for patients diagnosed with ff￭ i after the onset of symptoms is 18 months
ger￭ st￭ mann – str￭ ä￭ us￭ sl￭ er – sche￭ in￭ ker syndrome
ger￭ st￭ mann – str￭ ä￭ us￭ sl￭ er – sche￭ in￭ ker syndrome g￭ ss is a very rare usually famili￭ al fatal neuro￭ degenerative disease that affects patients from 20 to 60 years in age though exclusively her￭ itable this extremely rare disease is classified with the transmissible spongiform encephalopathies tse due to the caus￭ ative role played by pr￭ n￭ p the human pri￭ on protein the exact incidence of g￭ ss is unknown but is estimated to be between 1 and 10 per 100 million
rabies
rabies is a viral disease that causes acute infl￭ amm￭ ation of the brain in humans and other mammals early symptoms can include fever and ting￭ ling at the site of exposure these symptoms are followed by one or more of the following symptoms violent movements uncontrolled excitement fear of water an inability to move parts of the body confusion and loss of consciousness once symptoms appear the result is nearly always death the time period between contracting the disease and the start of symptoms is usually one to three months however this time period can vary from less than one week to more than one year the time is dependent on the distance the virus must travel to reach the central nervous system
rabies is a viral disease that causes acute infl￭ amm￭ ation of the brain in humans and other mammals early symptoms can include fever and ting￭ ling at the site of exposure these symptoms are followed by one or more of the following symptoms violent movements uncontrolled excitement fear of water an inability to move parts of the body confusion and loss of consciousness once symptoms appear the result is nearly always death the time period between contracting the disease and the start of symptoms is usually one to three months however this time period can vary from less than one week to more than one year the time is dependent on the distance the virus must travel to reach the central nervous system rabies is caused by lys￭ sa￭ viruses including rabies virus and australian bat lys￭ sa￭ virus rabies is spread when an infected animal scrat￭ ches or bites another animal or human sali￭ va from an infected animal can also transmit rabies if the sali￭ va comes into contact with the eyes mouth or nose globally dogs are the most common animal involved more than 99 of rabies cases in countries where dogs commonly have the disease are caused by dog bites in the americas bat bites are the most common source of rabies infections in humans and less than 5 of cases are from dogs ro￭ dents are very rarely infected with rabies the rabies virus travels to the brain by following the peripheral nerves the disease can only be diagnosed after the start of symptoms animal control and vaccination programs have decreased the risk of rabies from dogs in a number of regions of the world immun￭ izing people before they are exposed is recommended for those who are at high risk the high risk group includes people who work with bats or who spend prolonged periods in areas of the world where rabies is common in people who have been exposed to rabies the rabies vaccine and sometimes rabies immun￭ o￭ glob￭ ulin are effective in preventing the disease if the person receives the treatment before the start of rabies symptoms washing bites and scrat￭ ches for 15 minutes with soap and water po￭ vi￭ done i￭ od￭ ine or deter￭ gent may reduce the number of viral particles and may be somewhat effective at preventing transmission only five people have survived a rabies infection after showing symptoms and this was with extensive treatment known as the mil￭ w￭ au￭ kee protocol rabies causes about 24 000 to 60 000 deaths worldwide per year more than 95 of human deaths caused by rabies occur in africa and asia rabies is present in more than 150 countries and on all continents but antarc￭ tica more than 3 billion people live in regions of the world where rabies occurs a number of countries including australia canada japan and the united states and western europe do not have rabies among dogs many small island nations do not have rabies at all
en￭ ce￭ ph￭ ali￭ tis
en￭ ce￭ ph￭ ali￭ tis is a sudden onset infl￭ amm￭ ation of the brain en￭ ce￭ ph￭ ali￭ tis with men￭ ing￭ i￭ tis is known as men￭ in￭ go￭ en￭ ce￭ ph￭ ali￭ tis symptoms include headache fever confusion drow￭ sin￭ ess and fatigue further symptoms include seizures or con￭ vul￭ sions tre￭ mors halluc￭ inations stroke and memory problems in 2013 en￭ ce￭ ph￭ ali￭ tis was estimated to have resulted in 77 000 deaths down from 92 000 in 1990 the word is from ancient greek ἐ￭ γ￭ κ￭ έ￭ φα￭ λο￭ ς enk￭ é￭ p￭ hal￭ os brain composed of ἐ￭ ν en in and κ￭ ε￭ φα￭ λ￭ ή ke￭ p￭ hal￭ é head and the medical suff￭ ix i￭ tis infl￭ amm￭ ation
japanese en￭ ce￭ ph￭ ali￭ tis
japanese en￭ ce￭ ph￭ ali￭ tis je formerly known as japanese b en￭ ce￭ ph￭ ali￭ tis to distinguish it from econom￭ o s a en￭ ce￭ ph￭ ali￭ tis — is a disease caused by the mosquito borne japanese en￭ ce￭ ph￭ ali￭ tis virus j￭ ev the japanese en￭ ce￭ ph￭ ali￭ tis virus j￭ ev itself is a virus from the family fla￭ vivi￭ ri￭ da￭ e part of the japanese en￭ ce￭ ph￭ ali￭ tis sero￭ complex of 9 genetically and anti￭ gen￭ ically related viruses some which are particularly severe in horses and four known to infect humans including west nile virus
tick borne en￭ ce￭ ph￭ ali￭ tis
tick borne en￭ ce￭ ph￭ ali￭ tis t￭ be is a viral infectious disease involving the central nervous system the disease most often manifests as men￭ ing￭ i￭ tis en￭ ce￭ ph￭ ali￭ tis or men￭ in￭ go￭ en￭ ce￭ ph￭ ali￭ tis although t￭ be is most commonly recognized as a neuro￭ logical disorder mild fever can also occur long lasting or permanent neuro￭ psychiatric sequ￭ el￭ ae are observed in 10 to 20 of infected patients the number of reported cases has been increasing in most countries t￭ be like ly￭ me disease is one of the many tick borne diseases
tick borne en￭ ce￭ ph￭ ali￭ tis t￭ be is a viral infectious disease involving the central nervous system the disease most often manifests as men￭ ing￭ i￭ tis en￭ ce￭ ph￭ ali￭ tis or men￭ in￭ go￭ en￭ ce￭ ph￭ ali￭ tis although t￭ be is most commonly recognized as a neuro￭ logical disorder mild fever can also occur long lasting or permanent neuro￭ psychiatric sequ￭ el￭ ae are observed in 10 to 20 of infected patients the number of reported cases has been increasing in most countries the tick borne en￭ ce￭ ph￭ ali￭ tis virus is known to infect a range of hosts including ruminants birds ro￭ dents carni￭ vores horses and humans the disease can also be zoonotic with ruminants and dogs providing the principal source of infection for humans t￭ be like ly￭ me disease is one of the many tick borne diseases
en￭ ce￭ ph￭ ali￭ tis leth￭ arg￭ ica
en￭ ce￭ ph￭ ali￭ tis leth￭ arg￭ ica or von econom￭ o disease is an atypical form of en￭ ce￭ ph￭ ali￭ tis also known as sleepy sickness distinct from t￭ set￭ se fly transmitted sleeping sickness it was first described in 1917 by the neuro￭ logist constan￭ tin von econom￭ o￭ and the patho￭ logist jean ren￭ é cru￭ chet the disease attacks the brain leaving some victims in a statue like condition spe￭ ech￭ less and mo￭ tion￭ less between 1915 and 19￭ 26 an epidemic of en￭ ce￭ ph￭ ali￭ tis leth￭ arg￭ ica spread around the world nearly five million people were affected a third of whom died in the acute stages many of those who survived never returned to their pre existing ali￭ veness they would be conscious and aware yet not fully awake they would sit mo￭ tion￭ less and spe￭ ech￭ less all day in their chairs totally lacking energy impetus in￭ it
en￭ ce￭ ph￭ ali￭ tis leth￭ arg￭ ica or von econom￭ o disease is an atypical form of en￭ ce￭ ph￭ ali￭ tis also known as sleepy sickness distinct from t￭ set￭ se fly transmitted sleeping sickness it was first described in 1917 by the neuro￭ logist constan￭ tin von econom￭ o￭ and the patho￭ logist jean ren￭ é cru￭ chet the disease attacks the brain leaving some victims in a statue like condition spe￭ ech￭ less and mo￭ tion￭ less between 1915 and 19￭ 26 an epidemic of en￭ ce￭ ph￭ ali￭ tis leth￭ arg￭ ica spread around the world nearly five million people were affected a third of whom died in the acute stages many of those who survived never returned to their pre existing ali￭ veness they would be conscious and aware yet not fully awake they would sit mo￭ tion￭ less and spe￭ ech￭ less all day in their chairs totally lacking energy impetus initiative motive appetite affect or desire they registered what went on about them without active attention and with profound indifference they neither conveyed nor felt the feeling of life they were as in￭ substantial as ghosts and as passive as zom￭ bies awak￭ enings oliver sacks p 14 no recurrence of the epidemic has since been reported though isolated cases continue to occur
den￭ gue fever
den￭ gue fever is a mosquito borne tropical disease caused by the den￭ gue virus symptoms typically begin three to fourteen days after infection this may include a high fever headache v￭ om￭ iting muscle and joint pains and a characteristic skin rash recovery generally takes two to seven days in a small proportion of cases the disease develops into the life threatening den￭ gue hemorrha￭ gic fever resulting in bleeding low levels of blood plat￭ el￭ ets and blood plasma leakage or into den￭ gue shock syndrome where dangerously low blood pressure occurs
den￭ gue fever is a mosquito borne tropical disease caused by the den￭ gue virus symptoms typically begin three to fourteen days after infection this may include a high fever headache v￭ om￭ iting muscle and joint pains and a characteristic skin rash recovery generally takes two to seven days in a small proportion of cases the disease develops into the life threatening den￭ gue hemorrha￭ gic fever resulting in bleeding low levels of blood plat￭ el￭ ets and blood plasma leakage or into den￭ gue shock syndrome where dangerously low blood pressure occurs den￭ gue is spread by several species of mosquito of the a￭ edes type principally a a￭ egyp￭ ti the virus has five different types infection with one type usually gives lifelong immunity to that type but only short term immunity to the others subsequent infection with a different type increases the risk of severe complications a number of tests are available to confirm the diagnosis including detecting antibodies to the virus or its r￭ na a novel vaccine for den￭ gue fever has been approved in three countries but it is not yet commercially available prevention is by reducing mosquito habitat and limiting exposure to bites this may be done by getting rid of or covering standing water and wearing clothing that covers much of the body treatment of acute den￭ gue is supportive and includes giving fluid either by mouth or intra￭ ven￭ ously for mild or moderate disease for more severe cases blood transfusion may be required about half a million people require admission to hospital a year non￭ ster￭ o￭ idal anti infl￭ am￭ matory drug n￭ s￭ aids such as i￭ bu￭ prof￭ en should not be used den￭ gue has become a global problem since the second world war and is common in more than 110 countries each year between 50 and 528 million people are infected and approximately 10 000 to 20 000 die the earliest descriptions of an outbreak date from 17￭ 79 its viral cause and spread were understood by the early 20 th century apart from eliminating the mosquitoes work is ongoing for medication targeted directly at the virus
viral hemorrha￭ gic fever
chi￭ kun￭ gun￭ ya
chi￭ kun￭ gun￭ ya is an infection caused by the chi￭ kun￭ gun￭ ya virus symptoms include the fever and joint pain these typically occur two to twelve days after exposure other symptoms may include headache muscle pain joint sw￭ elling and a rash most people are better within a week however occasionally the joint pain may last for months the risk of death is around 1 in 1 000 the very young old and those with other health problems are at risk of more severe disease
chi￭ kun￭ gun￭ ya is an infection caused by the chi￭ kun￭ gun￭ ya virus symptoms include the fever and joint pain these typically occur two to twelve days after exposure other symptoms may include headache muscle pain joint sw￭ elling and a rash most people are better within a week however occasionally the joint pain may last for months the risk of death is around 1 in 1 000 the very young old and those with other health problems are at risk of more severe disease the virus is spread between people by two types of mosquit￭ os a￭ edes al￭ b￭ op￭ ic￭ tus and a￭ edes a￭ egyp￭ ti they mainly bite during the day the virus may circulate within a number of animals including birds and ro￭ dents diagnosis is by either testing the blood for the virus s r￭ na or antibodies to the virus the symptoms can be mistaken for those of den￭ gue fever and zi￭ ka fever after a single infection it is believed most people become immune the best means of prevention is overall mosquito control and the avoidance of bites in areas where the disease is common this may be partly achieved by decreases mosquitoes access to water and with the use of insect rep￭ ell￭ ent and mosquito nets there is no vaccine and no specific treatment as of 2016 recommendations include rest fluids and medications to help with fever and joint pain while the disease typically occurs in africa and asia outbreaks have been reported in europe and the americas since the 2000 s in 2014 more than a million suspected cases occurred in 2014 it was occurring in florida in the continental united states but as of 2016 there was no further locally acquired cases the disease was first identified in 1952 in tanzania the term is from the kim￭ ak￭ on￭ de language and means to become cont￭ or￭ ted
west nile fever
west nile fever is a mosquito borne infection by the west nile virus approximately 80 of west nile virus infections in humans have few or no symptoms in the cases where symptoms do occur — termed west nile fever in cases without neuro￭ logical disease — the time from infection to the appearance of symptoms is typically between 2 and 15 days symptoms may include fever headaches feeling tired muscle pain or aches naus￭ ea loss of appetite v￭ om￭ iting and rash less than 1 of the cases are severe and result in neuro￭ logical disease when the central nervous system is affected people of advanced age the very young or those with immun￭ o￭ suppression either medic￭ ally induced such as those taking immun￭ o￭ su￭ pres￭ sive drugs or due to a pre existing medical condition such as hiv infection are most s
rift valley fever
rift valley fever r￭ v￭ f is a viral disease that can cause mild to severe symptoms the mild symptoms may include fever muscle pains and headaches which often last for up to a week the severe symptoms may include loss of sight beginning three weeks after the infection infections of the brain causing severe headaches and confusion and bleeding together with liver problems which may occur within the first few days those who have bleeding have a chance of death as high as 50
or￭ op￭ ou￭ che fever
yellow fever
yellow fever is an acute viral disease in most cases symptoms include fever ch￭ ills loss of appetite naus￭ ea muscle pains particularly in the back and headaches symptoms typically improve within five days in some people within a day of improving the fever comes back ab￭ domin￭ al pain occurs and liver damage begins causing yellow skin if this occurs the risk of bleeding and kidney problems is also increased
yellow fever is an acute viral disease in most cases symptoms include fever ch￭ ills loss of appetite naus￭ ea muscle pains particularly in the back and headaches symptoms typically improve within five days in some people within a day of improving the fever comes back ab￭ domin￭ al pain occurs and liver damage begins causing yellow skin if this occurs the risk of bleeding and kidney problems is also increased the disease is caused by the yellow fever virus and is spread by the bite of an infected female mosquito it inf￭ ects only humans other pri￭ mates and several species of mosquitoes in cities it is spread primarily by mosquitoes of the a￭ edes a￭ egyp￭ ti type the virus is an r￭ na virus of the genus fla￭ vi￭ virus the disease may be difficult to tell apart from other illnesses especially in the early stages to confirm a suspected case blood sample testing with poly￭ mer￭ ase chain reaction is required a safe and effective vaccine against yellow fever exists and some countries require vaccinations for travel￭ ers other efforts to prevent infection include reducing the population of the transmitting mosquito in areas where yellow fever is common and vaccination is un￭ common early diagnosis of cases and immun￭ ization of large parts of the population is important to prevent outbreaks once infected management is symptomatic with no specific measures effective against the virus the second and more severe phase results in death in up to half of people without treatment yellow fever causes 200 000 infections and 30 000 deaths every year with nearly 90 of these occurring in africa nearly a billion people live in an area of the world where the disease is common it is common in tropical areas of south america and africa but not in asia since the 1980 s the number of cases of yellow fever has been increasing this is believed to be due to fewer people being immune more people living in cities people moving frequently and changing climate the disease originated in africa from where it spread to south america through the slave trade in the 17 th century since the 17 th century several major outbreaks of the disease have occurred in the americas africa and europe in the 18 th and 19 th centuries yellow fever was seen as one of the most dangerous infectious diseases in 19￭ 27 yellow fever virus became the first human virus to be isolated
l￭ assa fever
l￭ assa fever or l￭ assa hemorrha￭ gic fever l￭ hf is an acute viral hemorrha￭ gic fever caused by the l￭ assa virus and first described in 1969 in the town of l￭ assa in bor￭ no state nigeria l￭ assa virus is a member of the aren￭ avi￭ ri￭ da￭ e virus family similar to e￭ bol￭ a clinical cases of l￭ assa fever had been known for over a decade but had not been connected with a viral pathogen
cri￭ mean – congo hemorrha￭ gic fever
cri￭ mean – congo hemorrha￭ gic fever c￭ chf is a widespread tick borne viral disease that is endemic in africa the balkans the middle east and asia the virus is a member of the bun￭ y￭ avi￭ ri￭ da￭ e family of r￭ na viruses it is a zoonotic disease carried by several domestic and wild animals while clinical disease is rare in infected animals it is severe in infected humans with a mortality rate of 10 40 outbreaks of illness are usually attributable to hy￭ al￭ om￭ ma tick bites or contact with infected animals or people
om￭ sk hemorrha￭ gic fever
om￭ sk hemorrha￭ gic fever is a viral hemorrha￭ gic fever caused by a fla￭ vi￭ virus it is found in siberia it is named for an outbreak in om￭ sk
ky￭ asan￭ ur forest disease
ky￭ asan￭ ur forest disease k￭ fd is a tick borne viral hemorrha￭ gic fever endemic to south asia the disease is caused by a virus belonging to the family fla￭ vivi￭ ri￭ da￭ e which also includes yellow fever and den￭ gue fever
mar￭ burg virus disease
mar￭ burg virus disease m￭ vd formerly mar￭ burg hemorrha￭ gic fever is a severe illness of humans and non human pri￭ mates caused by either of the two mar￭ burg￭ viruses mar￭ burg virus mar￭ v and rav￭ n virus rav￭ v m￭ vd is a viral hemorrha￭ gic fever v￭ hf and the clinical symptoms are in￭ distingu￭ ishable from e￭ bol￭ a virus disease ev￭ d
e￭ bol￭ a virus disease
e￭ bol￭ a virus disease ev￭ d also known as e￭ bol￭ a hemorrha￭ gic fever eh￭ f or simply e￭ bol￭ a is a viral hemorrha￭ gic fever of humans and other pri￭ mates caused by e￭ bol￭ avi￭ ruses signs and symptoms typically start between two days and three weeks after contracting the virus with a fever sore throat muscular pain and headaches then v￭ om￭ iting diarr￭ hea and rash usually follow along with decreased function of the liver and kidneys at this time some people begin to bleed both internally and externally the disease has a high risk of death killing between 25 and 90 percent of those infected with an average of about 50 percent this is often due to low blood pressure from fluid loss and typically follows six to sixteen days after symptoms appear
e￭ bol￭ a virus disease ev￭ d also known as e￭ bol￭ a hemorrha￭ gic fever eh￭ f or simply e￭ bol￭ a is a viral hemorrha￭ gic fever of humans and other pri￭ mates caused by e￭ bol￭ avi￭ ruses signs and symptoms typically start between two days and three weeks after contracting the virus with a fever sore throat muscular pain and headaches then v￭ om￭ iting diarr￭ hea and rash usually follow along with decreased function of the liver and kidneys at this time some people begin to bleed both internally and externally the disease has a high risk of death killing between 25 and 90 percent of those infected with an average of about 50 percent this is often due to low blood pressure from fluid loss and typically follows six to sixteen days after symptoms appear the virus spreads by direct contact with body fluids such as blood of an infected human or other animals this may also occur through contact with an item recently contaminated with bodily fluids spread of the disease through the air between pri￭ mates including humans has not been documented in either laboratory or natural conditions semen or breast milk of a person after recovery from ev￭ d may carry the virus for several weeks to months fruit bats are believed to be the normal carrier in nature able to spread the virus without being affected by it other diseases such as malaria cholera typ￭ ho￭ id fever men￭ ing￭ i￭ tis and other viral hemorrha￭ gic fe￭ vers may resemble ev￭ d blood samples are tested for viral r￭ na viral antibodies or for the virus itself to confirm the diagnosis control of outbreaks requires coordinated medical services alongside a certain level of community engagement the medical services include rapid detection of cases of disease contact tracing of those who have come into contact with infected individuals quick access to laboratory services proper healthcare for those who are infected and proper disposal of the dead through cre￭ mation or burial samples of body fluids and tissues from people with the disease should be handled with special caution prevention includes limiting the spread of disease from infected animals to humans this may be done by handling potentially infected bush￭ meat only while wearing protective clothing and by thoroughly cooking it before eating it it also includes wearing proper protective clothing and washing hands when around a person with the disease no specific treatment or vaccine for the virus is available although a number of potential treatments are being studied supportive efforts however improve outcomes this includes either oral re￭ hydr￭ ation therapy drinking slightly swee￭ tened and sal￭ ty water or giving intra￭ ven￭ ous fluids as well as treating symptoms the disease was first identified in 1976 in two simultaneous outbreaks one in nz￭ ara and the other in yam￭ bu￭ ku a village near the e￭ bol￭ a river from which the disease takes its name ev￭ d outbreaks occur inter￭ mit￭ tently in tropical regions of sub saharan africa between 1976 and 2013 the world health organization reports a total of 24 outbreaks involving 1 716 cases the largest outbreak to date was the epidemic in west africa which occurred from december 2013 to january 2016 with section e￭ bol￭ a virus epidemic in west africa cases cases and section e￭ bol￭ a virus epidemic in west africa deaths deaths section e￭ bol￭ a virus epidemic in west africa cas￭ ere￭ fs it was declared no longer an emergency on 29 march 2016
her￭ pes￭ viral en￭ ce￭ ph￭ ali￭ tis
her￭ pes￭ viral en￭ ce￭ ph￭ ali￭ tis is en￭ ce￭ ph￭ ali￭ tis due to her￭ pes simpl￭ ex virus her￭ pes simpl￭ ex en￭ ce￭ ph￭ ali￭ tis h￭ se is a viral infection of the human central nervous system it is estimated to affect at least 1 in 500 000 individuals per year and some studies suggest an incidence rate of 5 9 cases per 100 000 live births the majority of cases of her￭ pes en￭ ce￭ ph￭ ali￭ tis are caused by her￭ pes simpl￭ ex virus 1 h￭ sv 1 the same virus that causes cold so￭ res 57 of american adults are infected with h￭ sv 1 which is spread through dro￭ ple￭ ts casual contact and sometimes sexual contact though most infected people never have cold so￭ res about 10 of cases of her￭ pes en￭ ce￭ ph￭ ali￭ tis are due to h￭ sv 2 which is typically spread through sexual contact about 1 in 3 cases of h￭ se result from primary h￭ sv 1 infection pre￭ dom
chick￭ en￭ pox
chick￭ en￭ pox also known as var￭ ic￭ ella is a highly contagious disease caused by the initial infection with var￭ ic￭ ella zo￭ ster virus v￭ z￭ v the disease results in a characteristic skin rash that forms small it￭ chy bl￭ is￭ ters which eventually sc￭ ab over it usually starts on the chest back and face then spreads to the rest of the body other symptoms may include fever feeling tired and headaches symptoms usually last five to ten days complications may occasionally include pneumonia infl￭ amm￭ ation of the brain or bacterial infections of the skin among others the disease is often more severe in adults than children symptoms begin ten to twenty one days after exposure to the virus
chick￭ en￭ pox also known as var￭ ic￭ ella is a highly contagious disease caused by the initial infection with var￭ ic￭ ella zo￭ ster virus v￭ z￭ v the disease results in a characteristic skin rash that forms small it￭ chy bl￭ is￭ ters which eventually sc￭ ab over it usually starts on the chest back and face then spreads to the rest of the body other symptoms may include fever feeling tired and headaches symptoms usually last five to ten days complications may occasionally include pneumonia infl￭ amm￭ ation of the brain or bacterial infections of the skin among others the disease is often more severe in adults than children symptoms begin ten to twenty one days after exposure to the virus chick￭ en￭ pox is an airborne disease which spreads easily through the cou￭ ghs and snee￭ zes of an infected person it may be spread from one to two days before the rash appears until all le￭ sions have cru￭ sted over it may also spread through contact with the bl￭ is￭ ters those with sh￭ ing￭ les may spread chick￭ en￭ pox to those who are not immune through contact with the bl￭ is￭ ters the disease can usually be diagnosed based on the presenting symptom however in unusual cases may be confirmed by poly￭ mer￭ ase chain reaction p￭ cr testing of the bl￭ ister fluid or s￭ cab￭ s testing for antibodies may be done to determine if a person is or is not immune people usually only get the disease once although re￭ infections by the virus occur these re￭ infections usually do not cause any symptoms the var￭ ic￭ ella vaccine has resulted in a decrease in the number of cases and complications from the disease it protects about 70 to 90 percent of people from disease with a greater benefit for severe disease routine immun￭ ization of children is recommended in many countries immun￭ ization within three days of exposure may improve outcomes in children treatment of those infected may include calam￭ ine lo￭ tion to help with it￭ ching keeping the finger￭ nails short to decrease injury from scrat￭ ching and the use of par￭ acet￭ am￭ ol acet￭ amin￭ oph￭ en to help with fe￭ vers for those at increased risk of complications anti￭ viral medication such as ac￭ ic￭ lo￭ vi￭ r are recommended chick￭ en￭ pox occurs in all parts of the world as of 2013 140 million cases of chick￭ en￭ pox and her￭ pes zo￭ ster occurred before routine immun￭ ization the number of cases occurring each year was similar to the number of people born since immun￭ ization the number of infections in the united states has decreased nearly 90 in 2013 chick￭ en￭ pox resulted in 7 000 deaths globally – down from 8 900 in 1990 death occurs in about 1 per 60 000 cases chick￭ en￭ pox was not separated from small￭ pox until the late 19 th century in 18￭ 88 its connection to sh￭ ing￭ les was determined the first documented use of the term chicken pox was in 16￭ 58 various explanations have been suggested for the use of chicken in the name one being the relative mil￭ dness of the disease
sh￭ ing￭ les
sh￭ ing￭ les also known as zo￭ ster her￭ pes zo￭ ster or zona is a viral disease characterized by a painful skin rash with bl￭ is￭ ters involving a limited area typically the rash occurs on either the left or right of the body or face in a single stri￭ pe two to four days before the rash occurs there may be pain or ting￭ ling in the area otherwise there are typically few symptoms the rash usually he￭ als within two to four weeks however some people develop ongoing nerve pain which may last for months or years a condition called pos￭ ther￭ pe￭ tic ne￭ ur￭ al￭ gia in those with poor immune function the rash may occur widely if the rash involves the eye vision loss may occur
sh￭ ing￭ les also known as zo￭ ster her￭ pes zo￭ ster or zona is a viral disease characterized by a painful skin rash with bl￭ is￭ ters involving a limited area typically the rash occurs on either the left or right of the body or face in a single stri￭ pe two to four days before the rash occurs there may be pain or ting￭ ling in the area otherwise there are typically few symptoms the rash usually he￭ als within two to four weeks however some people develop ongoing nerve pain which may last for months or years a condition called pos￭ ther￭ pe￭ tic ne￭ ur￭ al￭ gia in those with poor immune function the rash may occur widely if the rash involves the eye vision loss may occur sh￭ ing￭ les is due to a re￭ activation of var￭ ic￭ ella zo￭ ster virus v￭ z￭ v within a person s body chick￭ en￭ pox is due to an initial infection with v￭ z￭ v once chick￭ en￭ pox has resolved the virus may remain inactive in nerve cells risk factors for re￭ activation include older age poor immune function and having had chick￭ en￭ pox before 18 months of age how the virus remains in the body or subsequently re activ￭ ates is not well understood exposure to the virus in the bl￭ is￭ ters can cause chick￭ en￭ pox in someone who has not had it before but will not trigger sh￭ ing￭ les diagnosis is typically based on a person s signs and symptoms var￭ ic￭ ella zo￭ ster virus is not the same as her￭ pes simpl￭ ex virus however they belong to the same family of viruses the sh￭ ing￭ les vaccine decreases the chance of sh￭ ing￭ les by about half in those between the ages of 50 and 80 it also decreases rates of pos￭ ther￭ pe￭ tic ne￭ ur￭ al￭ gia and if an outbreak occurs its severity after 80 the vaccine is still effective just less so it contains the same material as the var￭ ic￭ ella vaccine just at a higher dose if sh￭ ing￭ les develops anti￭ viral medications such as ac￭ ic￭ lo￭ vi￭ r can reduce the severity and duration of disease if started within 72 hours of the appearance of the rash evidence does not show a significant effect of anti￭ vir￭ als or ster￭ oids on rates of pos￭ ther￭ pe￭ tic ne￭ ur￭ al￭ gia par￭ acet￭ am￭ ol n￭ s￭ aids or op￭ io￭ ids may be used to help with the acute pain it is estimated that about a third of people develop sh￭ ing￭ les at some point in their life while more common among older people children may also get the disease the number of new cases per year ranges from 1 2 – 3 4 per 1 000 among healthy individuals to 3 9 – 11 8 per 1 000 among those older than 65 years of age about half of those living to age 85 will have at least one attack and less than 5 will have more than one attack the disease has been recognized since ancient times in arabic its name means belt of fire while in spanish it means small snake and in hind￭ i it means big rash
pos￭ ther￭ pe￭ tic ne￭ ur￭ al￭ gia
pos￭ ther￭ pe￭ tic ne￭ ur￭ al￭ gia is a nerve pain due to damage caused by the var￭ ic￭ ella zo￭ ster virus typically the ne￭ ur￭ al￭ gia is confined to a der￭ mat￭ om￭ ic area of the skin and follows an outbreak of her￭ pes zo￭ ster commonly known as sh￭ ing￭ les in that same der￭ mat￭ om￭ ic area the ne￭ ur￭ al￭ gia typically begins when the her￭ pes zo￭ ster ves￭ ic￭ les have cru￭ sted over and begun to heal but can begin in the absence of her￭ pes zo￭ ster — a condition called zo￭ ster sine her￭ pete see her￭ pes zo￭ ster
small￭ pox
small￭ pox was an infectious disease caused by either of two virus variants vari￭ ola major and vari￭ ola minor the disease is also known by the latin names vari￭ ola or vari￭ ola vera derived from vari￭ us spotted or var￭ us pim￭ ple the disease was originally known in english as the pox or red plague the term small￭ pox was first used in britain in the 15 th century to distinguish vari￭ ola from the great pox sy￭ phil￭ is the last naturally occurring case of small￭ pox vari￭ ola minor was diagnosed on 26 october 1977
small￭ pox was an infectious disease caused by either of two virus variants vari￭ ola major and vari￭ ola minor the disease is also known by the latin names vari￭ ola or vari￭ ola vera derived from vari￭ us spotted or var￭ us pim￭ ple the disease was originally known in english as the pox or red plague the term small￭ pox was first used in britain in the 15 th century to distinguish vari￭ ola from the great pox sy￭ phil￭ is the last naturally occurring case of small￭ pox vari￭ ola minor was diagnosed on 26 october 1977 infection with small￭ pox is focused in small blood vessels of the skin and in the mouth and throat before disseminating in the skin it results in a characteristic mac￭ ul￭ op￭ ap￭ ular rash and later raised fluid filled bl￭ is￭ ters v major produced a more serious disease and had an overall mortality rate of 30 – 35 percent v minor caused a mil￭ der form of disease also known as al￭ ast￭ rim cott￭ on￭ pox mil￭ k￭ pox white￭ pox and cuban itch which killed about 1 percent of its victims long term complications of v major infection included characteristic scars commonly on the face which occur in 65 – 85 percent of survivors blindness resulting from cor￭ ne￭ al ul￭ cer￭ ation and scar￭ ring and limb de￭ form￭ ities due to ar￭ thri￭ tis and o￭ ste￭ om￭ ye￭ li￭ tis were less common complications seen in about 2 – 5 percent of cases small￭ pox is believed to have emerged in human populations about 10 000 bc the earliest physical evidence of it is probably the pu￭ st￭ ular rash on the mum￭ mi￭ fied body of pharaoh ram￭ ses v of egypt the disease killed an estimated 400 000 europeans annually during the closing years of the 18 th century including five reign￭ ing monarch￭ s and was responsible for a third of all blindness of all those infected 20 – 60 percent — and over 80 percent of infected children — died from the disease small￭ pox was responsible for an estimated 300 – 500 million deaths during the 20 th century as recently as 1967 the world health organization who estimated that 15 million people contracted the disease and that two million died in that year after vaccination campaigns throughout the 19 th and 20 th centuries the who certified the global eradication of small￭ pox in 1979 small￭ pox is one of two infectious diseases to have been eradicated the other being rin￭ der￭ pest which was declared eradicated in 2011
mon￭ key￭ pox
mon￭ key￭ pox is an infectious disease caused by the mon￭ key￭ pox virus the disease was first identified in laboratory monkeys hence its name but in its natural state it seems to infect ro￭ dents more often than pri￭ mates the disease is indigenous to central and west africa an outbreak that occurred in the united states in 2003 was traced to a pet store where imported gambi￭ an pou￭ ched rats were sold
meas￭ les
meas￭ les is a highly contagious infection caused by the meas￭ les virus initial signs and symptoms typically include fever often greater than 40 ° c 104 0 ° f cough run￭ ny nose and infl￭ amed eyes two or three days after the start of symptoms small white spots may form inside the mouth known as kop￭ lik s spots a red flat rash which usually starts on the face and then spreads to the rest of the body typically begins three to five days after the start of symptoms symptoms usually develop 10 – 12 days after exposure to an infected person and last 7 – 10 days complications occur in about 30 and may include diarr￭ hea blindness infl￭ amm￭ ation of the brain and pneumonia among others rub￭ ella german meas￭ les and ro￭ se￭ ola are different diseases
meas￭ les is a highly contagious infection caused by the meas￭ les virus initial signs and symptoms typically include fever often greater than 40 ° c 104 0 ° f cough run￭ ny nose and infl￭ amed eyes two or three days after the start of symptoms small white spots may form inside the mouth known as kop￭ lik s spots a red flat rash which usually starts on the face and then spreads to the rest of the body typically begins three to five days after the start of symptoms symptoms usually develop 10 – 12 days after exposure to an infected person and last 7 – 10 days complications occur in about 30 and may include diarr￭ hea blindness infl￭ amm￭ ation of the brain and pneumonia among others rub￭ ella german meas￭ les and ro￭ se￭ ola are different diseases meas￭ les is an airborne disease which spreads easily through the cou￭ ghs and snee￭ zes of those infected it may also be spread through contact with sali￭ va or nas￭ al secre￭ tions nine out of ten people who are not immune and share living space with an infected person will catch it people are infectious to others from four days before to four days after the start of the rash people usually do not get the disease more than once testing for the virus in suspected cases is important for public health efforts the meas￭ les vaccine is effective at preventing the disease vaccination has resulted in a 75 decrease in deaths from meas￭ les between 2000 and 2013 with about 85 of children globally being currently vaccinated no specific treatment is available supportive care may improve outcomes this may include giving oral re￭ hydr￭ ation solution slightly sweet and sal￭ ty fluids healthy food and medications to control the fever antibiotics may be used if a secondary bacterial infection such as pneumonia occurs vitamin a supplem￭ entation is also recommended in the developing world meas￭ les affects about 20 million people a year primarily in the developing areas of africa and asia it causes the most vaccine preventable deaths of any disease it resulted in about 96 000 deaths in 2013 down from 545 000 deaths in 1990 in 1980 the disease was estimated to have caused 2 6 million deaths per year most of those who are infected and who die are less than five years old the risk of death among those infected is usually 0 2 but may be up to 10 in those who have malnutrition it is not believed to affect other animals before immun￭ ization in the united states between three and four million cases occurred each year as a result of widespread vaccination the disease was eliminated from the americas in 2016
rub￭ ella
rub￭ ella also known as german meas￭ les or three day meas￭ les is an infection caused by the rub￭ ella virus this disease is often mild with half of people not realizing that they are sick a rash may start around two weeks after exposure and last for three days it usually starts on the face and spreads to the rest of the body the rash is not as bright as that of meas￭ les and is sometimes it￭ chy sw￭ oll￭ en lymp￭ h no￭ des are common and may last a few weeks a fever sore throat and fatigue may also occur in adults joint pain is common complications may include bleeding problems tes￭ tic￭ ular sw￭ elling and infl￭ amm￭ ation of nerves infection during early pregnancy may result in a child born with con￭ genital rub￭ ella syndrome crs or mis￭ carriage symptoms of crs include problems with the eyes such as c
rub￭ ella also known as german meas￭ les or three day meas￭ les is an infection caused by the rub￭ ella virus this disease is often mild with half of people not realizing that they are sick a rash may start around two weeks after exposure and last for three days it usually starts on the face and spreads to the rest of the body the rash is not as bright as that of meas￭ les and is sometimes it￭ chy sw￭ oll￭ en lymp￭ h no￭ des are common and may last a few weeks a fever sore throat and fatigue may also occur in adults joint pain is common complications may include bleeding problems tes￭ tic￭ ular sw￭ elling and infl￭ amm￭ ation of nerves infection during early pregnancy may result in a child born with con￭ genital rub￭ ella syndrome crs or mis￭ carriage symptoms of crs include problems with the eyes such as cat￭ ar￭ acts ears such as deaf￭ ness heart and brain problems are rare after the 20 th week of pregnancy rub￭ ella is usually spread through the air via cou￭ ghs of people who are infected people are infectious during the week before and after the appearance of the rash babies with crs may spread the virus for more than a year only humans are infected insects do not spread the disease once recovered people are immune to future infections testing is available that can verify immunity diagnosis is confirmed by finding the virus in the blood throat or urine testing the blood for antibodies may also be useful rub￭ ella is preventable with the rub￭ ella vaccine with a single dose being more than 95 effective often it is given in combination with the meas￭ les vaccine and mum￭ ps vaccine known as the m￭ mr vaccine with a population vaccination rate of less than 80 however more women might make it to child￭ bearing age without developing immunity and issues could increase once infected there is no specific treatment rub￭ ella is a common infection in many areas of the world each year about 100 000 cases of con￭ genital rub￭ ella syndrome occur rates of disease have decreased in many areas as a result of vaccination there are ongoing efforts to eliminate the disease globally in april 2015 the world health organization declared the americas free of rub￭ ella transmission the name rub￭ ella is from latin and means little red it was first described as a separate disease by german physicians in 18￭ 14 resulting in the name german meas￭ les
wart
or￭ f disease
or￭ f is an ex￭ an￭ them￭ ous disease caused by a par￭ apo￭ x virus and occurring primarily in sheep and goats it is also known as contagious pu￭ st￭ ular der￭ mati￭ tis infectious lab￭ ial der￭ mati￭ tis ec￭ thy￭ ma contag￭ io￭ sum th￭ ist￭ le disease and s￭ cab￭ by mouth or￭ f virus is zoonotic it can also infect humans
mollus￭ cu￭ m contag￭ io￭ sum
mollus￭ cu￭ m contag￭ io￭ sum mc sometimes called water war￭ ts is a viral infection of the skin and occasionally of the mu￭ co￭ us memb￭ ran￭ es mc can affect any area of the skin but is most common on the trunk of the body arms gro￭ in and legs
ro￭ se￭ ola
ro￭ se￭ ola is a disease of children generally under two years old although it has been known to occur in eighteen year olds whose manifestations are usually limited to a transi￭ ent rash ex￭ anthem that occurs following a fever of about three days duration ro￭ se￭ ola occur in 1 of children in the united states
fifth disease
er￭ y￭ them￭ a infec￭ ti￭ o￭ sum or fifth disease is one of several possible manifestations of infection by par￭ vo￭ virus b 19 the disease is also referred to as slapped cheek syndrome sl￭ ap￭ cheek slap face or slapped face the name fifth disease comes from its place on the standard list of rash causing childhood diseases which also includes meas￭ les 1 st scar￭ let fever 2 nd rub￭ ella 3 rd and du￭ kes disease 4 th though the last is no longer widely accepted as distinct
hand foot and mouth disease
hand foot and mouth disease h￭ fmd is a common infection caused by a group of viruses it typically begins with a fever and feeling generally un￭ well this is followed a day or two later by flat dis￭ colored spots or bu￭ mps that may bl￭ ister on the hands feet and mouth and occasionally but￭ toc￭ ks and gro￭ in signs and symptoms normally appear 3 – 6 days after exposure to the virus the rash generally goes away on its own in about a week finger￭ nail and to￭ en￭ ail loss may occur a few weeks later and these then reg￭ row
her￭ p￭ ang￭ ina
her￭ p￭ ang￭ ina also called mouth bl￭ is￭ ters is the name of a painful mouth infection caused by co￭ x￭ s￭ ack￭ i￭ evi￭ ruses usually her￭ p￭ ang￭ ina is produced by one particular strain of co￭ x￭ s￭ ack￭ ie virus a and the term her￭ p￭ ang￭ ina virus refers to co￭ x￭ s￭ ack￭ i￭ evi￭ rus a but it can also be caused by co￭ x￭ s￭ ack￭ i￭ evi￭ rus b or echo￭ viruses most cases of her￭ p￭ ang￭ ina occur in the summer affecting mostly children however it occasionally occurs in adolescents and adults it was first characterized in 1920
foot and mouth disease
foot and mouth disease or ho￭ of and mouth disease aph￭ th￭ ae epizoo￭ tic￭ ae is an infectious and sometimes fatal viral disease that affects clo￭ ven hoof￭ ed animals including domestic and wild bo￭ vi￭ ds the virus causes a high fever for approximately two to six days followed by bl￭ is￭ ters inside the mouth and on the feet that may rupture and cause lam￭ eness
en￭ anthem
en￭ anthem or en￭ an￭ them￭ a is a rash small spots on the mu￭ co￭ us memb￭ ran￭ es it is characteristic of patients with small￭ pox meas￭ les chicken pox and ro￭ se￭ ola inf￭ an￭ tum it can also indicate hy￭ pers￭ ensi￭ tivity en￭ an￭ them￭ a can present with viral ex￭ an￭ them￭ a
hepatitis a
hepatitis a formerly known as infectious hepatitis is an acute infectious disease of the liver caused by the hepatitis a virus ha￭ v many cases have few or no symptoms especially in the young the time between infection and symptoms in those who develop them is between two and six weeks when symptoms occur they typically last eight weeks and may include naus￭ ea v￭ om￭ iting diarr￭ hea ja￭ und￭ ice fever and ab￭ domin￭ al pain around 10 – 15 of people experience a recurrence of symptoms during the six months after the initial infection acute liver failure may rarely occur with this being more common in the elderly
hepatitis d
hepatitis d hepatitis delta is a disease caused by the hepatitis d virus h￭ d￭ v a small spher￭ ical envelop￭ ed r￭ na virus this is one of five known hepatitis viruses a b c d and e h￭ d￭ v is considered to be a sub￭ viral satellite because it can propag￭ ate only in the presence of the hepatitis b virus h￭ bv transmission of h￭ d￭ v can occur either via simultaneous infection with h￭ bv co￭ infection or super￭ imposed on chronic hepatitis b or hepatitis b carrier state super￭ infection
hepatitis c
hepatitis c is an infectious disease caused by the hepatitis c virus h￭ c￭ v that primarily affects the liver during the initial infection people often have mild or no symptoms occasionally a fever dark urine ab￭ domin￭ al pain and yellow ting￭ ed skin occurs the virus persists in the liver in about 75 to 85 of those initially infected early on chronic infection typically has no symptoms over many years however it often leads to liver disease and occasionally cir￭ rho￭ sis in some cases those with cir￭ rho￭ sis will develop complications such as liver failure liver cancer or es￭ op￭ ha￭ ge￭ al and ga￭ str￭ ic var￭ ices
hepatitis e
hepatitis e is a viral hepatitis liver infl￭ amm￭ ation caused by infection with a virus called hepatitis e virus it is one of five known human hepatitis viruses a b c d and e hev is a positive sense single stranded non envelop￭ ed r￭ na i￭ co￭ sa￭ he￭ dr￭ al virus hev has a f￭ ec￭ al oral transmission route infection with this virus was first documented in 1955 during an outbreak in new delhi india a preventative vaccine hev 239 is approved for use in china hepatitis e newly affected about 28 million people in 2013
hiv aids
human immun￭ o￭ deficiency virus infection and acquired immune deficiency syndrome hiv aids is a spectrum of conditions caused by infection with the human immun￭ o￭ deficiency virus hiv following initial infection a person may not notice any symptoms or may experience a brief period of influenza like illness typically this is followed by a prolonged period with no symptoms as the infection progres￭ ses it interferes more with the immune system increasing the risk of common infections like tuberculosis as well as other opportunistic infections and tumors that rarely affect people who have working immune systems these late symptoms of infection are referred to as aids this stage is often also associated with weight loss
human immun￭ o￭ deficiency virus infection and acquired immune deficiency syndrome hiv aids is a spectrum of conditions caused by infection with the human immun￭ o￭ deficiency virus hiv following initial infection a person may not notice any symptoms or may experience a brief period of influenza like illness typically this is followed by a prolonged period with no symptoms as the infection progres￭ ses it interferes more with the immune system increasing the risk of common infections like tuberculosis as well as other opportunistic infections and tumors that rarely affect people who have working immune systems these late symptoms of infection are referred to as aids this stage is often also associated with weight loss hiv is spread primarily by unprotected sex including anal and oral sex contaminated blood trans￭ fu￭ sions hypo￭ der￭ mic needles and from mother to child during pregnancy delivery or breastfeeding some bodily fluids such as sali￭ va and tears do not transmit hiv methods of prevention include safe sex needle exchange programs treating those who are infected and male circumcision disease in a baby can often be prevented by giving both the mother and child anti￭ retro￭ viral medication there is no cure or vaccine however anti￭ retro￭ viral treatment can slow the course of the disease and may lead to a near normal life expectancy treatment is recommended as soon as the diagnosis is made without treatment the average survival time after infection is 11 years in 2015 about 36 7 million people were living with hiv and it resulted in 1 1 million deaths most of those infected live in sub saharan africa between its discovery and 2014 aids has caused an estimated 39 million deaths worldwide hiv aids is considered a pandemic — a disease outbreak which is present over a large area and is actively spreading hiv is believed to have originated in west central africa during the late 19 th or early 20 th century aids was first recognized by the united states centers for disease control and prevention c￭ dc in 1981 and its cause — hiv infection — was identified in the early part of the decade hiv aids has had a great impact on society both as an illness and as a source of discrimination the disease also has large economic impacts there are many mis￭ conceptions about hiv aids such as the belief that it can be transmitted by casual non sexual contact the disease has become subject to many controversies involving religion including the catholic church s decision not to support con￭ dom use as prevention it has attracted international medical and political attention as well as large scale funding since it was identified in the 1980 s
cy￭ tom￭ eg￭ alo￭ virus
cy￭ tom￭ eg￭ alo￭ virus from the greek cy￭ to cell and me￭ gal￭ o large is a genus of viruses in the order her￭ pes￭ vir￭ ales in the family her￭ pes￭ vi￭ ri￭ da￭ e in the sub￭ family be￭ ta￭ her￭ pes￭ vir￭ in￭ ae humans and monkeys serve as natural hosts there are currently eight species in this genus including the type species human her￭ pes￭ virus 5 h￭ h￭ v 5 diseases associated with h￭ h￭ v 5 include g￭ land￭ ular fever and pneumonia it is typically abbreviated as c￭ mv
human cy￭ tom￭ eg￭ alo￭ virus
human cy￭ tom￭ eg￭ alo￭ virus is a species of the cy￭ tom￭ eg￭ alo￭ virus genus of viruses which in turn is a member of the viral family known as her￭ pes￭ vi￭ ri￭ da￭ e or her￭ pes￭ viruses it is typically abbreviated as h￭ c￭ mv or commonly but more ambiguously as c￭ mv it is also known as human her￭ pes￭ virus 5 h￭ h￭ v 5 within her￭ pes￭ vi￭ ri￭ da￭ e h￭ c￭ mv belongs to the be￭ ta￭ her￭ pes￭ vir￭ in￭ ae sub￭ family which also includes cy￭ tom￭ eg￭ alo￭ viruses from other mammals
par￭ o￭ ti￭ tis
par￭ o￭ ti￭ tis is an infl￭ amm￭ ation of one or both par￭ o￭ ti￭ d g￭ lands the major sali￭ vary g￭ lands located on either side of the face in humans the par￭ o￭ ti￭ d g￭ land is the sali￭ vary g￭ land most commonly affected by infl￭ amm￭ ation
mum￭ ps
for other uses of the word mum￭ ps see mum￭ ps dis￭ ambigu￭ ation mum￭ ps also known as epidemic par￭ o￭ ti￭ tis is a viral disease caused by the mum￭ ps virus initial signs and symptoms often include fever muscle pain headache and feeling tired this is then usually followed by painful sw￭ elling of one or both par￭ o￭ ti￭ d sali￭ vary g￭ lands symptoms typically occur 16 to 18 days after exposure and resolve after seven to ten days symptoms in adults are often more severe than in children about a third of people have mild or no symptoms complications may include infections of the covering of the brain 15 percent pan￭ cre￭ ati￭ tis four percent permanent deaf￭ ness and painful tes￭ tic￭ ular sw￭ elling which un￭ commonly results in in￭ fertility women may develop o￭ vari￭ an sw￭ elling but this does not increase the r
infectious mon￭ on￭ uc￭ le￭ osis
infectious mon￭ on￭ uc￭ le￭ osis im also known as mon￭ o or g￭ land￭ ular fever is an infection commonly caused by the ep￭ stein – bar￭ r virus eb￭ v most people are infected by the virus as children when the disease produces little or no symptoms in young adults the disease often results in fever sore throat enlarged lymp￭ h no￭ des in the neck and feeling tired most people get better in two to four weeks however feeling tired may last for months the liver or sp￭ leen may also become sw￭ oll￭ en in less than one percent of cases splen￭ ic rupture may occur
infectious mon￭ on￭ uc￭ le￭ osis im also known as mon￭ o or g￭ land￭ ular fever is an infection commonly caused by the ep￭ stein – bar￭ r virus eb￭ v most people are infected by the virus as children when the disease produces little or no symptoms in young adults the disease often results in fever sore throat enlarged lymp￭ h no￭ des in the neck and feeling tired most people get better in two to four weeks however feeling tired may last for months the liver or sp￭ leen may also become sw￭ oll￭ en in less than one percent of cases splen￭ ic rupture may occur infectious mon￭ on￭ uc￭ le￭ osis is usually caused by ep￭ stein – bar￭ r virus eb￭ v also known as human her￭ pes￭ virus 4 which is a member of the her￭ pes virus family a few other viruses may also cause the disease it is primarily spread through sali￭ va but can rarely be spread through semen or blood spread may occur by objects such as drinking glasses or tooth￭ bru￭ shes those who are infected can spread the disease weeks before symptoms develop mon￭ o is primarily diagnosed based on the symptoms and can be confirmed with blood tests for specific antibodies another typical finding is increased blood lymp￭ ho￭ cy￭ tes of which more than 10 are atypical the mono￭ spot test is not very useful there is no vaccine for eb￭ v prevention is by not sharing personal items or kissing those infected mon￭ o generally gets better on its own recommendations include drinking enough fluids getting sufficient rest and taking pain medications such as par￭ acet￭ am￭ ol acet￭ amin￭ oph￭ en and i￭ bu￭ prof￭ en mon￭ o most commonly affects those between the ages of 15 to 24 years in the developed world in the developing world people are more often infected in early childhood when the symptoms are less in those between 16 and 20 it is the cause of about 8 of sore throats about 45 out of 100 000 people develop mon￭ o each year in the united states nearly 95 of people have been infected by the time they are adults the disease occurs equally at all times of the year mon￭ on￭ uc￭ le￭ osis was first described in the 1920 s and is col￭ lo￭ qu￭ ially known as the kissing disease
bor￭ n￭ holm disease
bor￭ n￭ holm disease or epidemic ple￭ u￭ ro￭ dy￭ nia or epidemic my￭ al￭ gia is a disease caused by the co￭ x￭ s￭ ack￭ ie b virus or other viruses it is named after the danish island of bor￭ n￭ holm where early cases occurred
han￭ ta￭ virus
han￭ ta￭ viruses are single stranded envelop￭ ed negative sense r￭ na viruses in the bun￭ y￭ avi￭ ri￭ da￭ e family which can kill humans they normally infect ro￭ dents and do not cause disease in these hosts humans may become infected with han￭ ta￭ viruses through contact with ro￭ dent urine sali￭ va or f￭ ec￭ es some strains of han￭ ta￭ viruses cause potentially fatal diseases in humans such as han￭ ta￭ virus hemorrha￭ gic fever with ren￭ al syndrome h￭ frs and han￭ ta￭ virus pul￭ mon￭ ary syndrome h￭ ps — also known as han￭ ta￭ virus cardi￭ op￭ ul￭ mon￭ ary syndrome h￭ c￭ ps — while others have not been associated with known human disease h￭ ps h￭ c￭ ps is a rare respiratory illness associated with the inhal￭ ation of aero￭ soli￭ zed ro￭ dent ex￭ cre￭ ta urine and f￭ ec￭ es contaminated by han￭ ta￭ virus particles
han￭ ta￭ viruses are single stranded envelop￭ ed negative sense r￭ na viruses in the bun￭ y￭ avi￭ ri￭ da￭ e family which can kill humans they normally infect ro￭ dents and do not cause disease in these hosts humans may become infected with han￭ ta￭ viruses through contact with ro￭ dent urine sali￭ va or f￭ ec￭ es some strains of han￭ ta￭ viruses cause potentially fatal diseases in humans such as han￭ ta￭ virus hemorrha￭ gic fever with ren￭ al syndrome h￭ frs and han￭ ta￭ virus pul￭ mon￭ ary syndrome h￭ ps — also known as han￭ ta￭ virus cardi￭ op￭ ul￭ mon￭ ary syndrome h￭ c￭ ps — while others have not been associated with known human disease h￭ ps h￭ c￭ ps is a rare respiratory illness associated with the inhal￭ ation of aero￭ soli￭ zed ro￭ dent ex￭ cre￭ ta urine and f￭ ec￭ es contaminated by han￭ ta￭ virus particles human infections of han￭ ta￭ viruses have almost entirely been linked to human contact with ro￭ dent ex￭ cre￭ ment but recent human to human transmission has been reported with the an￭ des virus in south america han￭ ta￭ virus is named for the han￭ tan river area in south korea where an early outbreak was observed the virus was isolated in the late 1970 s by karl m johnson and ho wang lee
my￭ co￭ sis
tin￭ ea cap￭ i￭ tis
tin￭ ea cap￭ i￭ tis also known as her￭ pes ton￭ sur￭ ans ring￭ worm of the hair ring￭ worm of the scal￭ p scal￭ p ring￭ worm and tin￭ ea ton￭ sur￭ ans is a cu￭ taneous fun￭ gal infection der￭ mat￭ op￭ hy￭ to￭ sis of the scal￭ p the disease is primarily caused by der￭ mat￭ op￭ hy￭ tes in the tric￭ hop￭ hy￭ ton and micro￭ spor￭ um genera that invade the hair shaft the clinical presentation is typically single or multiple pat￭ ches of hair loss sometimes with a black dot pattern often with broken off ha￭ irs that may be accompanied by infl￭ amm￭ ation scaling pu￭ st￭ ules and it￭ ching un￭ common in adults tin￭ ea cap￭ i￭ tis is predominantly seen in pre pu￭ ber￭ tal children more often boys than girls
ker￭ ion
ker￭ ion is the result of the host s response to a fun￭ gal ring￭ worm infection of the hair fol￭ lic￭ les of the scal￭ p occasionally the beard that can be accompanied by secondary bacterial infection s it usually appears as raised spon￭ gy le￭ sions and typically occurs in children this honey￭ comb is a painful infl￭ am￭ matory reaction with deep sup￭ pur￭ ative le￭ sions on the scal￭ p fol￭ lic￭ les may be seen discharging p￭ us there may be sin￭ us formation and rarely my￭ ce￭ tom￭ a like grains are produced it is usually caused by der￭ mat￭ op￭ hy￭ tes fun￭ gal infections of the skin affecting humans and animals such as tric￭ hop￭ hy￭ ton ver￭ ru￭ co￭ sum t ment￭ agro￭ phy￭ tes and micro￭ spor￭ um can￭ is treatment with oral gr￭ ise￭ o￭ ful￭ vin common
fa￭ vi￭ d
fa￭ vi￭ d of fav￭ us latin for honey￭ comb is a disease usually affecting the scal￭ p but occurring occasionally on any part of the skin and even at times on mu￭ co￭ us memb￭ ran￭ es the word “ fa￭ vi￭ d ” is more used than french word “ fav￭ us ” which is close to the latin e￭ ty￭ mo￭ logy
tin￭ ea bar￭ ba￭ e
der￭ mat￭ op￭ hy￭ to￭ sis
der￭ mat￭ op￭ hy￭ to￭ sis also known as ring￭ worm is a fun￭ gal infection of the skin typically it results in a red it￭ chy scal￭ y circular rash hair loss may occur in the area affected symptoms begin four to fourteen days after exposure multiple areas can be affected at a given time prevention is by keeping the skin dry not walking ba￭ ref￭ oot in public and not sharing personal items treatment is typically with anti￭ fun￭ gal cre￭ ams such as clo￭ trim￭ azole or mi￭ con￭ azole if the scal￭ p is involved anti￭ fun￭ g￭ als by mouth such as flu￭ con￭ azole may be needed
der￭ mat￭ op￭ hy￭ to￭ sis also known as ring￭ worm is a fun￭ gal infection of the skin typically it results in a red it￭ chy scal￭ y circular rash hair loss may occur in the area affected symptoms begin four to fourteen days after exposure multiple areas can be affected at a given time about 40 types of fun￭ gi can cause ring￭ worm they are typically of the tric￭ hop￭ hy￭ ton micro￭ spor￭ um or ep￭ id￭ er￭ mop￭ hy￭ ton type risk factors include using public sho￭ wers contact sports such as wrestling excessive swe￭ ating contact with animals obesity and poor immune function ring￭ worm can spread from other animals or between people diagnosis is often based on the appearance and symptoms it may be confirmed by either cul￭ turing or looking at a skin scrap￭ ing under a micro￭ scope prevention is by keeping the skin dry not walking ba￭ ref￭ oot in public and not sharing personal items treatment is typically with anti￭ fun￭ gal cre￭ ams such as clo￭ trim￭ azole or mi￭ con￭ azole if the scal￭ p is involved anti￭ fun￭ g￭ als by mouth such as flu￭ con￭ azole may be needed up to 20 of the population may be infected by ring￭ worm at any given time infections of the gro￭ in are more common in males while infections of the scal￭ p and body occur equally in both sexes infections of the scal￭ p are most common in children while infections of the gro￭ in are most common in the elderly description of ring￭ worm date back to ancient history
ony￭ ch￭ om￭ y￭ co￭ sis
tin￭ ea manu￭ um
athlete s foot
athlete s foot known medic￭ ally as tin￭ ea ped￭ is is a common skin infection of the feet caused by fun￭ gus signs and symptoms often include it￭ ching scaling and red￭ ness in severe cases the skin may bl￭ ister athlete s foot fun￭ gus may infect any part of the foot but most often grows between the toes the next most common area is the bottom of the foot the same fun￭ gus may also affect the nails or the hands it is a member of the group of diseases known as tin￭ ea
tin￭ ea corpor￭ is
tin￭ ea im￭ bric￭ ata
tin￭ ea cr￭ ur￭ is
tin￭ ea cr￭ ur￭ is also known as cro￭ tch itch cro￭ tch rot d￭ ho￭ bi itch ecz￭ ema margin￭ at￭ um gym itch j￭ ock itch j￭ ock rot scro￭ t rot and ring￭ worm of the gro￭ in is a der￭ mat￭ op￭ hy￭ te fun￭ gal infection of the gro￭ in region in any sex though more often seen in males
tin￭ ea cr￭ ur￭ is also known as cro￭ tch itch cro￭ tch rot d￭ ho￭ bi itch ecz￭ ema margin￭ at￭ um gym itch j￭ ock itch j￭ ock rot scro￭ t rot and ring￭ worm of the gro￭ in is a der￭ mat￭ op￭ hy￭ te fun￭ gal infection of the gro￭ in region in any sex though more often seen in males tin￭ ea cr￭ ur￭ is is similar to but different from candi￭ dal inter￭ tri￭ go which is an infection of the skin by candi￭ da al￭ bic￭ ans the latter is more specifically located between inter￭ tri￭ gin￭ ous fol￭ ds of adjacent skin which can be present in the gro￭ in or scro￭ tum and be in￭ distingu￭ ishable from fun￭ gal infections caused by tin￭ ea however candi￭ dal infections tend to both appear and with treatment disappear more quickly it may also affect the scro￭ tum
tin￭ ea versi￭ color
tin￭ ea versi￭ color also known as der￭ mat￭ om￭ y￭ co￭ sis fur￭ fur￭ acea pit￭ y￭ ri￭ asis versi￭ color and tin￭ ea fla￭ va is a condition characterized by a skin eruption on the trunk and proxim￭ al extre￭ mi￭ ties recent research has shown that the majority of tin￭ ea versi￭ color is caused by the mal￭ as￭ se￭ zia glo￭ bo￭ sa fun￭ gus although mal￭ as￭ se￭ zia fur￭ fur is responsible for a small number of cases these ye￭ asts are normally found on the human skin and only become troublesome under certain circumstances such as a warm and hum￭ id environment although the exact conditions that cause initiation of the disease process are poorly understood
tin￭ ea versi￭ color also known as der￭ mat￭ om￭ y￭ co￭ sis fur￭ fur￭ acea pit￭ y￭ ri￭ asis versi￭ color and tin￭ ea fla￭ va is a condition characterized by a skin eruption on the trunk and proxim￭ al extre￭ mi￭ ties recent research has shown that the majority of tin￭ ea versi￭ color is caused by the mal￭ as￭ se￭ zia glo￭ bo￭ sa fun￭ gus although mal￭ as￭ se￭ zia fur￭ fur is responsible for a small number of cases these ye￭ asts are normally found on the human skin and only become troublesome under certain circumstances such as a warm and hum￭ id environment although the exact conditions that cause initiation of the disease process are poorly understood the condition pit￭ y￭ ri￭ asis versi￭ color was first identified in 18￭ 46 versi￭ color comes from the latin from vers￭ ā￭ re to turn color it is also commonly referred to as peter el￭ am s disease in many parts of south asia
candi￭ di￭ asis
candi￭ di￭ asis is a fun￭ gal infection due to any type of candi￭ da a type of ye￭ ast when it affects the mouth it is commonly called th￭ rush signs and symptoms include white pat￭ ches on the tongue or other areas of the mouth and throat other symptoms may include so￭ reness and problems sw￭ allowing when it affects the vag￭ ina it is commonly called a ye￭ ast infection signs and symptoms include genital it￭ ching burning and sometimes a white cott￭ age cheese like discharge from the vag￭ ina less commonly the penis may be affected resulting in it￭ chin￭ ess very rarely the infection may become invasive spreading throughout the body resulting in fe￭ vers along with other symptoms depending on the parts of the body affected
candi￭ di￭ asis is a fun￭ gal infection due to any type of candi￭ da a type of ye￭ ast when it affects the mouth it is commonly called th￭ rush signs and symptoms include white pat￭ ches on the tongue or other areas of the mouth and throat other symptoms may include so￭ reness and problems sw￭ allowing when it affects the vag￭ ina it is commonly called a ye￭ ast infection signs and symptoms include genital it￭ ching burning and sometimes a white cott￭ age cheese like discharge from the vag￭ ina less commonly the penis may be affected resulting in it￭ chin￭ ess very rarely the infection may become invasive spreading throughout the body resulting in fe￭ vers along with other symptoms depending on the parts of the body affected more than 20 types of candi￭ da can cause infection with candi￭ da al￭ bic￭ ans being the most common infections of the mouth are most common among children less than one month old the elderly and those with weak immune systems conditions that result in a weak immune system include hiv aids the medications used after organ transplantation diabetes and the use of cor￭ ti￭ co￭ ster￭ oids other risks include d￭ ent￭ ures and following antibiotic therapy vag￭ inal infections occur more commonly during pregnancy in those with weak immune systems and following antibiotic use risk for widespread infection includes being in an intensive care unit following surgery low birth weight infants and those with weak immune systems efforts to prevent infections of the mouth include the use of chlor￭ hex￭ id￭ ine mouth wash in those with poor immune function and washing out the mouth following the use of inhal￭ ed ster￭ oids little evidence supports pro￭ bio￭ tics for either prevention or treatment even among those with frequent vag￭ inal infections for infections of the mouth treatment with topical clo￭ trim￭ azole or ny￭ stati￭ n is usually effective oral or intra￭ ven￭ ous flu￭ con￭ azole it￭ ra￭ con￭ azole or am￭ pho￭ ter￭ ic￭ in b may be used if these do not work a number of topical anti￭ fun￭ gal medications may be used for vag￭ inal infections including clo￭ trim￭ azole in those with widespread disease an echino￭ can￭ din such as cas￭ po￭ fun￭ gin or mic￭ af￭ un￭ gin is used a number of weeks of intra￭ ven￭ ous am￭ pho￭ ter￭ ic￭ in b may be used as an alternative in certain groups at very high risk anti￭ fun￭ gal medications may be used prevent￭ atively infections of the mouth occur in about 6 of babies less than a month old about 20 of those receiving chem￭ otherapy for cancer and 20 of those with aids also develop the disease about three quarters of women have at least one ye￭ ast infection at some time during their lives widespread disease is rare except in those who have risk factors
vag￭ inal ye￭ ast infection
vag￭ inal ye￭ ast infection also known as candi￭ dal vul￭ vo￭ vag￭ initi￭ s and vag￭ inal th￭ rush is excessive growth of ye￭ ast in the vag￭ ina that results in irritation the most common symptom is vag￭ inal it￭ ching which may be severe other symptoms include burning with ur￭ ination white and thick vag￭ inal discharge that typically does not smell bad pain with sex and red￭ ness around the vag￭ ina symptoms often worsen just before a woman s period
coccidio￭ id￭ om￭ y￭ co￭ sis
coccidio￭ id￭ om￭ y￭ co￭ sis k￭ ɒ￭ k￭ ˌ￭ s￭ ɪ￭ di￭ ɔ￭ ɪ￭ do￭ ʊ￭ ma￭ ɪ￭ ˈ￭ ko￭ ʊ￭ s￭ ɪ￭ s kok sid ee oy do￭ h my k￭ oh sis commonly known as coc￭ ci valley fever as well as california fever desert r￭ heu￭ m￭ atism and san jo￭ aqu￭ in valley fever is a mammalian fun￭ gal disease caused by coccidio￭ ides im￭ miti￭ s or coccidio￭ ides pos￭ ad￭ asi￭ i it is endemic in certain parts of arizona california nevada new mexico texas u￭ tah and northern mexico
coccidio￭ id￭ om￭ y￭ co￭ sis k￭ ɒ￭ k￭ ˌ￭ s￭ ɪ￭ di￭ ɔ￭ ɪ￭ do￭ ʊ￭ ma￭ ɪ￭ ˈ￭ ko￭ ʊ￭ s￭ ɪ￭ s kok sid ee oy do￭ h my k￭ oh sis commonly known as coc￭ ci valley fever as well as california fever desert r￭ heu￭ m￭ atism and san jo￭ aqu￭ in valley fever is a mammalian fun￭ gal disease caused by coccidio￭ ides im￭ miti￭ s or coccidio￭ ides pos￭ ad￭ asi￭ i it is endemic in certain parts of arizona california nevada new mexico texas u￭ tah and northern mexico c im￭ miti￭ s is a di￭ morph￭ ic sa￭ pro￭ phy￭ tic fun￭ gus that grows as a my￭ ce￭ lium in the soil and produces a spher￭ ule form in the host organism it resides in the soil in certain parts of the south￭ western united states most notably in california and arizona it is also commonly found in northern mexico and parts of central and south america c im￭ miti￭ s is dormant during long dry spells then develops as a mold with long fil￭ aments that break off into airborne spo￭ res when it rains the spo￭ res known as ar￭ thro￭ con￭ idi￭ a are swept into the air by disruption of the soil such as during construction farming or an earthquake wind￭ storms may also cause epidemics far from endemic areas in december 1977 a wind￭ storm in an endemic area around ar￭ vin ca led to several hundred cases including deaths in non endemic areas hundreds of miles away coccidio￭ id￭ om￭ y￭ co￭ sis is a common cause of community acquired pneumonia in the endemic areas of the united states infections usually occur due to inhal￭ ation of the ar￭ thro￭ con￭ idi￭ al spo￭ res after soil disruption the disease is not contagious in some cases the infection may recur or become chronic
hist￭ op￭ las￭ mo￭ sis
hist￭ op￭ las￭ mo￭ sis also known as cave disease darling s disease ohio valley disease re￭ ticul￭ o￭ endo￭ the￭ li￭ osis sp￭ el￭ un￭ ker ’ s lung and ca￭ ver s disease is a disease caused by the fun￭ gus hist￭ op￭ las￭ ma capsul￭ at￭ um symptoms of this infection vary greatly but the disease affects primarily the lungs occasionally other organs are affected this is called disseminated hist￭ op￭ las￭ mo￭ sis and it can be fatal if left untreated
bl￭ ast￭ om￭ y￭ co￭ sis
bl￭ ast￭ om￭ y￭ co￭ sis also known as north american bl￭ ast￭ om￭ y￭ co￭ sis bl￭ ast￭ om￭ y￭ ce￭ tic der￭ mati￭ tis and gil￭ christ s disease is a fun￭ gal infection of humans and other animals notably dogs and occasionally cats caused by the organism bl￭ ast￭ om￭ y￭ ces der￭ mati￭ ti￭ dis endemic to portions of north america bl￭ ast￭ om￭ y￭ co￭ sis causes clinical symptoms similar to hist￭ op￭ las￭ mo￭ sis the disease occurs in several endemic areas the most important of which is in eastern north america particularly in the western and northern periphery of the great lakes basin extending eastward along the south shore of the st lawrence river valley and south￭ ward in the territory sp￭ ann￭ ed by the central app￭ al￭ achi￭ an mountains in the east to the mississippi river valley in the west spor￭ adic cases have been reported in continental africa t
spor￭ o￭ tric￭ ho￭ sis
spor￭ o￭ tric￭ ho￭ sis also known as rose gar￭ den￭ er s disease is a disease caused by the infection of the fun￭ gus spor￭ o￭ thri￭ x sch￭ en￭ ck￭ ii this fun￭ gal disease usually affects the skin although other rare forms can affect the lungs joints bones and even the brain because roses can spread the disease it is one of a few diseases referred to as rose thorn or rose gar￭ den￭ ers disease
spor￭ o￭ tric￭ ho￭ sis also known as rose gar￭ den￭ er s disease is a disease caused by the infection of the fun￭ gus spor￭ o￭ thri￭ x sch￭ en￭ ck￭ ii this fun￭ gal disease usually affects the skin although other rare forms can affect the lungs joints bones and even the brain because roses can spread the disease it is one of a few diseases referred to as rose thorn or rose gar￭ den￭ ers disease because s sch￭ en￭ ck￭ ii is naturally found in soil hay sp￭ ha￭ gn￭ um mo￭ ss and plants it usually affects farmers gar￭ den￭ ers and agricultural workers it enters through small cuts and abra￭ sions in the skin to cause the infection in case of spor￭ o￭ tric￭ ho￭ sis affecting the lungs the fun￭ gal spo￭ res enter through the respiratory pathways spor￭ o￭ tric￭ ho￭ sis can also be acquired from handling cats with the disease it is an occupational hazard for veterinarians spor￭ o￭ tric￭ ho￭ sis progres￭ ses slowly the first symptoms may appear 1 to 12 weeks average 3 weeks after the initial exposure to the fun￭ gus serious complications can also develop in patients who have a compromised immune system
asper￭ gil￭ losis
asper￭ gil￭ losis is the name given to a wide variety of diseases caused by infection by fun￭ gi of the genus asper￭ gill￭ us the majority of cases occur in people with underlying illnesses such as tuberculosis or chronic obstruc￭ tive pul￭ mon￭ ary disease cop￭ d but with otherwise healthy immune systems most commonly asper￭ gil￭ losis occurs in the form of chronic pul￭ mon￭ ary asper￭ gil￭ losis cpa asper￭ gil￭ lo￭ ma or allergic bron￭ chop￭ ul￭ mon￭ ary asper￭ gil￭ losis ab￭ pa some forms are intertwined for example ab￭ pa and simple asper￭ gil￭ lo￭ ma can progress to cpa
cry￭ pto￭ coc￭ co￭ sis
eu￭ my￭ ce￭ tom￭ a
malaria
malaria is a mosquito borne infectious disease affecting humans and other animals caused by par￭ asi￭ tic proto￭ zo￭ ans a group of single cel￭ led micro￭ organisms belonging to the plas￭ modi￭ um type malaria causes symptoms that typically include fever fatigue v￭ om￭ iting and headaches in severe cases it can cause yellow skin seizures coma or death symptoms usually begin ten to fifteen days after being bit￭ ten if not properly treated people may have recur￭ ren￭ ces of the disease months later in those who have recently survived an infection re￭ infection usually causes mil￭ der symptoms this partial resistance disappears over months to years if the person has no continuing exposure to malaria
malaria is a mosquito borne infectious disease affecting humans and other animals caused by par￭ asi￭ tic proto￭ zo￭ ans a group of single cel￭ led micro￭ organisms belonging to the plas￭ modi￭ um type malaria causes symptoms that typically include fever fatigue v￭ om￭ iting and headaches in severe cases it can cause yellow skin seizures coma or death symptoms usually begin ten to fifteen days after being bit￭ ten if not properly treated people may have recur￭ ren￭ ces of the disease months later in those who have recently survived an infection re￭ infection usually causes mil￭ der symptoms this partial resistance disappears over months to years if the person has no continuing exposure to malaria the disease is most commonly transmitted by an infected female an￭ op￭ hel￭ es mosquito the mosquito bite introduces the parasites from the mosquito s sali￭ va into a person s blood the parasites travel to the liver where they mature and reproduce five species of plas￭ modi￭ um can infect and be spread by humans most deaths are caused by p fal￭ ci￭ par￭ um because p vi￭ va￭ x p o￭ val￭ e and p mal￭ ari￭ ae generally cause a mil￭ der form of malaria the species p knowle￭ si rarely causes disease in humans malaria is typically diagnosed by the micro￭ scopic examination of blood using blood films or with antigen based rapid diagnostic tests methods that use the poly￭ mer￭ ase chain reaction to detect the parasite s dna have been developed but are not widely used in areas where malaria is common due to their cost and complexity the risk of disease can be reduced by preventing mosquito bites through the use of mosquito nets and insect rep￭ ell￭ ents or with mosquito control measures such as spraying insectic￭ ides and draining standing water several medications are available to prevent malaria in travellers to areas where the disease is common occasional doses of the medication sul￭ f￭ ad￭ ox￭ ine py￭ ri￭ meth￭ amine are recommended in infants and after the first trim￭ ester of pregnancy in areas with high rates of malaria despite a need no effective vaccine exists although efforts to develop one are ongoing the recommended treatment for malaria is a combination of anti￭ mal￭ arial medications that includes an art￭ emis￭ in￭ in the second medication may be either me￭ flo￭ qu￭ ine lu￭ me￭ fan￭ tr￭ ine or sul￭ f￭ ad￭ ox￭ ine py￭ ri￭ meth￭ amine quin￭ ine along with do￭ xy￭ cycl￭ ine may be used if an art￭ emis￭ in￭ in is not available it is recommended that in areas where the disease is common malaria is confirmed if possible before treatment is started due to concerns of increasing drug resistance resistance among the parasites has developed to several anti￭ mal￭ arial medications for example chloro￭ qu￭ ine resistant p fal￭ ci￭ par￭ um has spread to most mal￭ arial areas and resistance to art￭ emis￭ in￭ in has become a problem in some parts of southeast asia the disease is widespread in the tropical and sub￭ tropical regions that exist in a broad band around the equ￭ ator this includes much of sub saharan africa asia and latin america in 2015 there were 214 million cases of malaria worldwide resulting in an estimated 438 000 deaths 90 of which occurred in africa rates of disease have decreased from 2000 to 2015 by 37 but increased from 2014 during which there were 198 million cases malaria is commonly associated with poverty and has a major negative effect on economic development in africa it is estimated to result in losses of us 12 billion a year due to increased healthcare costs lost ability to work and negative effects on tourism
le￭ ish￭ mani￭ asis
le￭ ish￭ mani￭ asis also spelled le￭ ish￭ mani￭ osis is a disease caused by proto￭ zo￭ an parasites of the genus le￭ ish￭ mania and spread by the bite of certain types of sand￭ flies the disease can present in three main ways cu￭ taneous mu￭ co￭ cu￭ taneous or vis￭ cer￭ al le￭ ish￭ mani￭ asis the cu￭ taneous form presents with skin ul￭ cers while the mu￭ co￭ cu￭ taneous form presents with ul￭ cers of the skin mouth and nose and the vis￭ cer￭ al form starts with skin ul￭ cers and then later presents with fever low red blood cells and enlarged sp￭ leen and liver
african try￭ pan￭ o￭ som￭ i￭ asis
african try￭ pan￭ o￭ som￭ i￭ asis also known as sleeping sickness is a par￭ asi￭ tic disease of humans and other animals it is caused by proto￭ zo￭ a of the species try￭ pan￭ o￭ som￭ a bru￭ ce￭ i there are two types that infect humans try￭ pan￭ o￭ som￭ a bru￭ ce￭ i gambi￭ ense t b g and try￭ pan￭ o￭ som￭ a bru￭ ce￭ i rho￭ desi￭ ense t b r t b g causes over 98 of reported cases both are usually transmitted by the bite of an infected t￭ set￭ se fly and are most common in rural areas
african try￭ pan￭ o￭ som￭ i￭ asis also known as sleeping sickness is a par￭ asi￭ tic disease of humans and other animals it is caused by proto￭ zo￭ a of the species try￭ pan￭ o￭ som￭ a bru￭ ce￭ i there are two types that infect humans try￭ pan￭ o￭ som￭ a bru￭ ce￭ i gambi￭ ense t b g and try￭ pan￭ o￭ som￭ a bru￭ ce￭ i rho￭ desi￭ ense t b r t b g causes over 98 of reported cases both are usually transmitted by the bite of an infected t￭ set￭ se fly and are most common in rural areas initially in the first stage of the disease there are fe￭ vers headaches it￭ chin￭ ess and joint pains this begins one to three weeks after the bite weeks to months later the second stage begins with confusion poor coordination num￭ b￭ ness and trouble sleeping diagnosis is via finding the parasite in a blood sme￭ ar or in the fluid of a lymp￭ h no￭ de a lum￭ bar punc￭ ture is often needed to tell the difference between first and second stage disease prevention of severe disease involves screening the population at risk with blood tests for t b g treatment is easier when the disease is detected early and before neuro￭ logical symptoms occur treatment of the first stage is with the medications pent￭ amid￭ ine or sur￭ am￭ in treatment of the second stage involves ef￭ lor￭ ni￭ th￭ ine or a combination of ni￭ fur￭ timo￭ x and ef￭ lor￭ ni￭ th￭ ine for t b g while mel￭ ar￭ so￭ pro￭ l works for both stages it is typically only used for t b r due to serious side effects without treatment it typically results in death the disease occurs regularly in some regions of sub saharan africa with the population at risk being about 70 million in 36 countries as of 2010 it caused around 9 000 deaths per year down from 34 000 in 1990 an estimated 30 000 people are currently infected with 7000 new infections in 2012 more than 80 of these cases are in the democratic republic of the congo three major outbreaks have occurred in recent history one from 18￭ 96 to 1906 primarily in uganda and the congo basin and two in 1920 and 1970 in several african countries other animals such as cows may carry the disease and become infected in which case it is known as nag￭ ana
cha￭ gas disease
cha￭ gas disease also known as american try￭ pan￭ o￭ som￭ i￭ asis is a tropical par￭ asi￭ tic disease caused by the proto￭ zo￭ an try￭ pan￭ o￭ som￭ a cru￭ zi it is spread mostly by insects known as tri￭ atom￭ in￭ ae or kissing bugs the symptoms change over the course of the infection in the early stage symptoms are typically either not present or mild and may include fever sw￭ oll￭ en lymp￭ h no￭ des headaches or local sw￭ elling at the site of the bite after 8 – 12 weeks individuals enter the chronic phase of disease and in 60 – 70 it never produces further symptoms the other 30 to 40 of people develop further symptoms 10 to 30 years after the initial infection including enlargement of the ven￭ tric￭ les of the heart in 20 to 30 leading to heart failure an enlarged es￭ op￭ ha￭ gus or an enlarged col￭ on may also occur in 10 of pe
tox￭ op￭ las￭ mo￭ sis
tox￭ op￭ las￭ mo￭ sis is a par￭ asi￭ tic disease caused by tox￭ op￭ las￭ ma gon￭ di￭ i infections with tox￭ op￭ las￭ mo￭ sis usually cause no symptoms in adult humans occasionally there may be a few weeks or months of mild flu like illness such as muscle aches and tender lymp￭ h no￭ des in a small number of people eye problems may develop in those with a weak immune system severe symptoms such as seizures and poor coordination may occur if infected during pregnancy a condition known as con￭ genital tox￭ op￭ las￭ mo￭ sis may affect the child
tox￭ op￭ las￭ mo￭ sis is a par￭ asi￭ tic disease caused by tox￭ op￭ las￭ ma gon￭ di￭ i infections with tox￭ op￭ las￭ mo￭ sis usually cause no symptoms in adult humans occasionally there may be a few weeks or months of mild flu like illness such as muscle aches and tender lymp￭ h no￭ des in a small number of people eye problems may develop in those with a weak immune system severe symptoms such as seizures and poor coordination may occur if infected during pregnancy a condition known as con￭ genital tox￭ op￭ las￭ mo￭ sis may affect the child tox￭ op￭ las￭ mo￭ sis is usually spread by eating poorly cooked food that contains cy￭ sts exposure to infected cat f￭ ec￭ es and from a mother to a child during pregnancy if the mother becomes infected rarely the disease may be spread by a blood transfusion it is not otherwise spread between people the parasite is only known to reproduce sexually in the cat family however it can infect most types of warm bloo￭ ded animals including humans diagnosis is typically by testing the blood for antibodies or by testing the am￭ ni￭ otic fluid for the parasite s dna prevention is by properly preparing and cooking food it is also recommended that pregnant women not clean cat litter boxes treatment of otherwise healthy people is usually not needed during pregnancy spir￭ amy￭ cin or py￭ ri￭ meth￭ amine sul￭ f￭ adi￭ az￭ ine and fol￭ in￭ ic acid may be used for treatment up to half of the world s population are in the united states about 23 are affected and in some areas of the world this is up to 95 about 200 000 cases of con￭ genital tox￭ op￭ las￭ mo￭ sis occur a year charles nicol￭ le and louis man￭ ce￭ aux first described the organism in 19￭ 08 in 1941 transmission during pregnancy from a mother to a child was confirmed
bab￭ esi￭ osis
bab￭ esi￭ osis is a malaria like par￭ asi￭ tic disease caused by infection with bab￭ e￭ sia a genus of ap￭ i￭ complex￭ a human bab￭ esi￭ osis is an un￭ common but emerging disease in the nor￭ the￭ astern and mid￭ western united states and parts of europe and spor￭ adic throughout the rest of the world it occurs in warm weather tic￭ ks transmit the human strain of bab￭ esi￭ osis so it often presents with other tick borne illnesses such as ly￭ me disease after try￭ pan￭ o￭ som￭ es bab￭ e￭ sia is thought to be the second most common blood parasite of mammals and they can have a major impact on health of domestic animals in areas without severe w￭ inters in cattle a major host the disease is known as texas cattle fever red￭ water or pi￭ ro￭ plas￭ mo￭ sis
micro￭ spor￭ idi￭ osis
sch￭ is￭ to￭ som￭ i￭ asis
sch￭ is￭ to￭ som￭ i￭ asis also known as sn￭ ail fever is a disease caused by par￭ asi￭ tic flat￭ worms called sch￭ is￭ to￭ som￭ es the ur￭ inary tract or the intest￭ ines may be infected signs and symptoms may include ab￭ domin￭ al pain diarr￭ hea bloody sto￭ ol or blood in the urine those who have been infected a long time may experience liver damage kidney failure in￭ fertility or blad￭ der cancer squ￭ am￭ ous cell carcin￭ oma in children it may cause poor growth and learning difficulty
inf￭ est￭ ation
swim￭ mer s itch
swim￭ mer ’ s itch or cer￭ cari￭ al der￭ mati￭ tis is a short term immune reaction occurring in the skin of humans that have been infected by water borne sch￭ is￭ to￭ som￭ ati￭ da￭ e symptoms which include it￭ chy raised pap￭ ules commonly occur within hours of infection and do not generally last more than a week it is common in freshwater br￭ ack￭ ish and marine habitats worldwide incidence may be on the rise although this may also be attributed to better monitoring
fas￭ ci￭ o￭ losis
fas￭ ci￭ o￭ losis also known as fas￭ ci￭ oli￭ asis fas￭ ci￭ ol￭ asis dis￭ tom￭ at￭ osis and liver rot is a par￭ asi￭ tic worm infection caused by the common liver flu￭ ke fas￭ ci￭ ola he￭ p￭ atica as well as by fas￭ ci￭ ola gig￭ antic￭ a the disease is a plant borne tre￭ mato￭ de zoon￭ osis and is classified as a neglected tropical disease n￭ td it affects humans but its main host is ruminants such as cattle and sheep the disease progres￭ ses through four distinct phases an initial incub￭ ation phase of between a few days up to three months with little or no symptoms an invasive or acute phase which may manifest with fever malaise ab￭ domin￭ al pain gastro￭ intest￭ inal symptoms ur￭ tic￭ aria an￭ emia ja￭ und￭ ice and respiratory symptoms the disease later progres￭ ses to a latent phase with less symptoms and ultimately into a chronic or ob￭ str￭ u
fas￭ ci￭ o￭ losis also known as fas￭ ci￭ oli￭ asis fas￭ ci￭ ol￭ asis dis￭ tom￭ at￭ osis and liver rot is a par￭ asi￭ tic worm infection caused by the common liver flu￭ ke fas￭ ci￭ ola he￭ p￭ atica as well as by fas￭ ci￭ ola gig￭ antic￭ a the disease is a plant borne tre￭ mato￭ de zoon￭ osis and is classified as a neglected tropical disease n￭ td it affects humans but its main host is ruminants such as cattle and sheep the disease progres￭ ses through four distinct phases an initial incub￭ ation phase of between a few days up to three months with little or no symptoms an invasive or acute phase which may manifest with fever malaise ab￭ domin￭ al pain gastro￭ intest￭ inal symptoms ur￭ tic￭ aria an￭ emia ja￭ und￭ ice and respiratory symptoms the disease later progres￭ ses to a latent phase with less symptoms and ultimately into a chronic or obstruc￭ tive phase months to years later in the chronic state the disease causes infl￭ amm￭ ation of the bile duc￭ ts g￭ all blad￭ der and may cause g￭ all stones as well as fi￭ bro￭ sis while chronic infl￭ amm￭ ation is connected to increased cancer rates it is unclear whether fas￭ ci￭ o￭ losis is associated with increased cancer risk up to half of those infected display no symptoms and diagnosis is difficult because the worm eggs are often missed in f￭ ec￭ al examination the methods of detection are through f￭ ec￭ al examination parasite specific anti￭ body detection or radiological diagnosis as well as l￭ apar￭ o￭ tomy in case of a suspected outbreak it may be useful to keep track of dietary history which is also useful for exclusion of differential diagnoses f￭ ec￭ al examination is generally not helpful because the worm eggs can seldom be detected in the chronic phase of the infection eggs appear in the f￭ ec￭ es first between 9 – 11 weeks post infection the cause of this is unknown and it is also difficult to distinguish between the different species of fas￭ ci￭ ola as well distinguishing them from echino￭ stom￭ es and fas￭ ci￭ ol￭ op￭ sis most immun￭ o￭ diagnostic tests detect infection with very high sensitivity and as concentration drops after treatment it is a very good diagnostic method clin￭ ically it is not possible to differentiate from other liver and bile diseases radiological methods can detect le￭ sions in both acute and chronic infection while l￭ apar￭ o￭ tomy will detect le￭ sions and also occasionally eggs and live worms because of the size of the parasite as adult f he￭ p￭ atica 20 – 30 × 13 mm 0 79 – 1 18 × 0 51 inches or adult f gig￭ antic￭ a 25 – 75 × 12 mm fas￭ ci￭ o￭ losis is a big concern the amount of symptoms depend on how many worms and what stage the infection is in the death rate is significant in both sheep and cattle but generally low among humans treatment with tric￭ lab￭ end￭ azole has been highly effective against the adult worms as well as various developing stages pr￭ azi￭ quan￭ tel is not effective and older drugs such as bi￭ th￭ ion￭ ol are moderately effective but also cause more side effects secondary bacterial infection causing chol￭ an￭ gi￭ tis has also been a concern and can be treated with antibiotics and tox￭ aemia may be treated with pred￭ n￭ isol￭ one humans are infected by eating water￭ grown plants primarily wild grown water￭ c￭ ress in europe or morning glory in asia infection may also occur by drinking contaminated water with floating young fas￭ ci￭ ola or when using u￭ ten￭ si￭ ls washed with contaminated water cultivated plants do not spread the disease in the same capacity human infection is rare even if the infection rate is high among animals especially high rates of human infection have been found in bolivia peru and egypt and this may be due to consumption of certain foods no vaccine is available to protect people against fas￭ ci￭ ola infection preventative measures are primarily treating and immun￭ ization of the livestock which are required to host the live cycle of the worms veterinary vaccines are in development and their use is being considered by a number of countries on account of the risk to human health and economic losses resulting from livestock infection other methods include using mollus￭ cic￭ ides to decrease the number of sn￭ ails that act as vectors but it is not practical educational methods to decrease consumption of wild water￭ c￭ ress and other water￭ plants has been shown to work in areas with a high disease burden in some areas of the world where fas￭ ci￭ oli￭ asis has been found endemic special control programs are in place or have been planned the types of control measures depend on the setting such as epidem￭ io￭ logic eco￭ logic and cultural factors strict control of the growth and sale of water￭ c￭ ress and other edible water plants is important individual people can protect themselves by not eating raw water￭ c￭ ress and other water plants especially from endemic grazing areas travel￭ ers to areas with poor sanitation should avoid food and water that might be contaminated tainted vegetables grown in fields that might have been irrig￭ ated with polluted water should be thoroughly cooked as should vis￭ cer￭ a from potentially infected animals fas￭ ci￭ oli￭ asis occurs in europe africa the americas as well as oce￭ ania recently worldwide losses in animal productivity due to fas￭ ci￭ o￭ losis were conserv￭ atively estimated at over us 3 2 billion per annum fas￭ ci￭ o￭ losis is now recognized as an emerging human disease the world health organization who has estimated that 2 4 million people are infected with fas￭ ci￭ ola and a further 180 million are at risk of infection
echino￭ coc￭ co￭ sis
echino￭ coc￭ co￭ sis also called hy￭ d￭ ati￭ d disease hy￭ d￭ ati￭ do￭ sis or echino￭ coc￭ cal disease is a par￭ asi￭ tic disease of ta￭ pe￭ worms of the echino￭ co￭ cc￭ us type the two main types of the disease are c￭ ys￭ tic echino￭ coc￭ co￭ sis and al￭ ve￭ ol￭ ar echino￭ coc￭ co￭ sis less common forms include poly￭ c￭ ys￭ tic echino￭ coc￭ co￭ sis and unic￭ ys￭ tic echino￭ coc￭ co￭ sis the disease often starts without symptoms and this may last for years the symptoms and signs that occur depend on the cyst s location and size al￭ ve￭ ol￭ ar disease usually begins in the liver but can spread to other parts of the body such as the lungs or brain when the liver is affected the person may have ab￭ domin￭ al pain weight loss and turn slightly yellow from ja￭ und￭ ice lung disease may cause pain in the chest short￭ ness of breath and cou￭ gh￭ ing
echino￭ coc￭ co￭ sis also called hy￭ d￭ ati￭ d disease hy￭ d￭ ati￭ do￭ sis or echino￭ coc￭ cal disease is a par￭ asi￭ tic disease of ta￭ pe￭ worms of the echino￭ co￭ cc￭ us type the two main types of the disease are c￭ ys￭ tic echino￭ coc￭ co￭ sis and al￭ ve￭ ol￭ ar echino￭ coc￭ co￭ sis less common forms include poly￭ c￭ ys￭ tic echino￭ coc￭ co￭ sis and unic￭ ys￭ tic echino￭ coc￭ co￭ sis the disease often starts without symptoms and this may last for years the symptoms and signs that occur depend on the cyst s location and size al￭ ve￭ ol￭ ar disease usually begins in the liver but can spread to other parts of the body such as the lungs or brain when the liver is affected the person may have ab￭ domin￭ al pain weight loss and turn slightly yellow from ja￭ und￭ ice lung disease may cause pain in the chest short￭ ness of breath and cou￭ gh￭ ing the disease is spread when food or water that contains the eggs of the parasite is eaten or by close contact with an infected animal the eggs are released in the sto￭ ol of meat eating animals that are infected by the parasite commonly infected animals include dogs fo￭ xes and wolves for these animals to become infected they must eat the organs of an animal that contains the cy￭ sts such as sheep or ro￭ dents the type of disease that occurs in people depends on the type of echino￭ co￭ cc￭ us causing the infection it is a type of worm infection and is a neglected tropical disease diagnosis is usually by ul￭ tras￭ ound though computer tom￭ o￭ graphy ct or magnetic resonance imaging m￭ ri may also be used blood tests looking for antibodies against the parasite may be helpful as may biopsy prevention of c￭ ys￭ tic disease is by treating dogs that may carry the disease and vaccination of sheep treatment is often difficult the c￭ ys￭ tic disease may be drained through the skin followed by medication sometimes this type of disease is just watched the al￭ ve￭ ol￭ ar type often needs surgery followed by medications the medication used is al￭ bend￭ azole which may be needed for years the al￭ ve￭ ol￭ ar disease may result in death the disease occurs in most areas of the world and currently affects about one million people in some areas of south america africa and asia up to 10 of the certain populations are affected in 2010 it caused about 1200 deaths down from 2000 in 1990 the economic cost of the disease is estimated to be around 3 billion usd a year it is classified as a neglected tropical disease and belongs to the group of diseases known as hel￭ min￭ thi￭ asis it can affect other animals such as pigs cows and horses
ta￭ pe￭ worm infection
ta￭ pe￭ worm infection is the inf￭ est￭ ation of the dig￭ estive tract by a species of par￭ asi￭ tic c￭ est￭ od￭ al flat￭ worm called ta￭ pe￭ worms live ta￭ pe￭ worm lar￭ v￭ ae co￭ en￭ uri are sometimes ing￭ ested by consuming under￭ cooked food once inside the dig￭ estive tract a lar￭ va can grow into a very large adult ta￭ pe￭ worm additionally many ta￭ pe￭ worm lar￭ v￭ ae cause symptoms in an intermediate host for example c￭ ys￭ tic￭ er￭ co￭ sis is a disease involving lar￭ val ta￭ pe￭ worms in the human body
al￭ ve￭ ol￭ ar hy￭ d￭ ati￭ d disease
ta￭ eni￭ asis
ta￭ eni￭ asis is a par￭ asi￭ tic disease due to infection with ta￭ pe￭ worms belonging to the genus ta￭ enia the two most important human pathogens in the genus are ta￭ enia soli￭ um the pork ta￭ pe￭ worm and ta￭ enia sag￭ in￭ ata the beef ta￭ pe￭ worm the third species ta￭ enia asi￭ atica is found only in east asia ta￭ eni￭ asis is generally as￭ ymp￭ tomatic but severe infection causes weight loss di￭ zz￭ iness ab￭ domin￭ al pain diarr￭ hea headaches naus￭ ea con￭ sti￭ p￭ ation chronic indi￭ ges￭ tion and loss of appetite
c￭ ys￭ tic￭ er￭ co￭ sis
c￭ ys￭ tic￭ er￭ co￭ sis is a tissue infection caused by the young form of the pork ta￭ pe￭ worm people may have little or no symptoms for years in some cases particularly in asia solid lum￭ ps of between one and two centi￭ metres may develop under the skin after months or years these lum￭ ps can become painful and sw￭ oll￭ en and then resolve a specific form called neuro￭ c￭ ys￭ tic￭ er￭ co￭ sis which affects the brain can give neuro￭ logical symptoms in developing countries this is one of the most common causes of seizures
c￭ ys￭ tic￭ er￭ co￭ sis is a tissue infection caused by the young form of the pork ta￭ pe￭ worm people may have little or no symptoms for years in some cases particularly in asia solid lum￭ ps of between one and two centi￭ metres may develop under the skin after months or years these lum￭ ps can become painful and sw￭ oll￭ en and then resolve a specific form called neuro￭ c￭ ys￭ tic￭ er￭ co￭ sis which affects the brain can give neuro￭ logical symptoms in developing countries this is one of the most common causes of seizures c￭ ys￭ tic￭ er￭ co￭ sis is usually acquired by eating food or drinking water that has ta￭ pe￭ worm eggs in it among foods un￭ cooked vegetables are the major source the ta￭ pe￭ worm eggs are present in the f￭ ec￭ es of a person infected with the adult worms a condition known as ta￭ eni￭ asis ta￭ eni￭ asis in the strict sense is a different disease and is due to eating cy￭ sts in poorly cooked pork people who live with someone with the ta￭ pe￭ worm have a greater risk of getting c￭ ys￭ tic￭ er￭ co￭ sis the diagnosis can be made by aspiration of a cyst taking pictures of the brain with computer tom￭ o￭ graphy ct or magnetic resonance imaging m￭ ri are most useful for the diagnosis of disease in the brain an increased number of a type of white blood cell called e￭ o￭ sin￭ oph￭ ils in the cere￭ br￭ al spinal fluid and blood is also an indicator infection can be effectively prevented by personal hygiene and sanitation this includes cooking pork well proper toi￭ lets and sanitary practices and improved access to clean water treating those with ta￭ eni￭ asis is important to prevent spread treating the disease when it does not involve the nervous system may not be required treatment of those with neuro￭ c￭ ys￭ tic￭ er￭ co￭ sis may be with the medications pr￭ azi￭ quan￭ tel or al￭ bend￭ azole these may be required for long periods of time ster￭ oids for anti infl￭ amm￭ ation during treatment and anti seizure medications may also be required surgery is sometimes done to remove the cy￭ sts the pork ta￭ pe￭ worm is particularly common in asia sub saharan africa and latin america in some areas it is believed that up to 25 of people are affected in the developed world it is very un￭ common worldwide as of 2010 it caused about 1 200 deaths up from 700 in 1990 c￭ ys￭ tic￭ er￭ co￭ sis also affects pigs and cows but rarely causes symptoms as most do not live long enough the disease has occurred in humans throughout history it is one of the neglected tropical diseases
di￭ ph￭ yl￭ lo￭ bo￭ thri￭ asis
di￭ ph￭ yl￭ lo￭ bo￭ thri￭ asis is the infection caused by ta￭ pe￭ worms of the di￭ ph￭ yl￭ lo￭ bo￭ thri￭ um genus commonly di￭ ph￭ yl￭ lo￭ bo￭ thri￭ um lat￭ um
spar￭ gan￭ osis
spar￭ gan￭ osis is a par￭ asi￭ tic infection caused by the pl￭ ero￭ cer￭ co￭ id lar￭ v￭ ae of di￭ ph￭ yl￭ lo￭ bo￭ thro￭ id ta￭ pe￭ worms belonging to the genus spi￭ rome￭ tra it was first described by patrick man￭ son from china in 1882 and the first human case was reported by charles war￭ dell sti￭ les from florida in 19￭ 08 the infection is transmitted by ing￭ estion of contaminated water ing￭ estion of a second intermediate host such as a frog or snake or contact between a second intermediate host and an open wound or mu￭ co￭ us memb￭ rane humans are the accidental hosts in the life cycle while dogs cats and other mammals are definitive hosts co￭ pe￭ pods freshwater crustaceans are the first intermediate hosts and various am￭ phi￭ bians and repti￭ les are second intermediate hosts
spar￭ gan￭ osis is a par￭ asi￭ tic infection caused by the pl￭ ero￭ cer￭ co￭ id lar￭ v￭ ae of di￭ ph￭ yl￭ lo￭ bo￭ thro￭ id ta￭ pe￭ worms belonging to the genus spi￭ rome￭ tra it was first described by patrick man￭ son from china in 1882 and the first human case was reported by charles war￭ dell sti￭ les from florida in 19￭ 08 the infection is transmitted by ing￭ estion of contaminated water ing￭ estion of a second intermediate host such as a frog or snake or contact between a second intermediate host and an open wound or mu￭ co￭ us memb￭ rane humans are the accidental hosts in the life cycle while dogs cats and other mammals are definitive hosts co￭ pe￭ pods freshwater crustaceans are the first intermediate hosts and various am￭ phi￭ bians and repti￭ les are second intermediate hosts once a human becomes infected the pl￭ ero￭ cer￭ co￭ id lar￭ v￭ ae migrate to a sub￭ cu￭ taneous location where they typically develop into a painful no￭ dule migration to the brain results in cere￭ br￭ al spar￭ gan￭ osis while migration to the eyes results in oc￭ ular spar￭ gan￭ osis spar￭ gan￭ osis is most prevalent in eastern asia although cases have been described in countries throughout the world in total approximately 300 cases have been described in the literature up to 2003 diagnosis is typically not made until the spar￭ gan￭ um lar￭ va has been sur￭ g￭ ically removed pr￭ azi￭ quan￭ tel is the drug of choice although its efficacy is unknown and surgical removal of the spar￭ gan￭ um is generally the best treatment public health interventions should focus on water and dietary sanitation as well as education about the disease in rural areas and discour￭ agement of the use of poul￭ tices
dr￭ ac￭ un￭ cu￭ li￭ asis
dr￭ ac￭ un￭ cu￭ li￭ asis also called guinea worm disease g￭ wd is an infection by the guinea worm a person becomes infected when they drink water that contains water fle￭ as infected with guinea worm lar￭ v￭ ae initially there are no symptoms about one year later the person develops a painful burning feeling as the female worm forms a bl￭ ister in the skin usually on the lower limb the worm then comes out of the skin over the course of a few weeks during this time it may be difficult to walk or work it is very un￭ common for the disease to cause death
on￭ cho￭ cer￭ ci￭ asis
on￭ cho￭ cer￭ ci￭ asis also known as river blindness and robles disease is a disease caused by infection with the par￭ asi￭ tic worm on￭ cho￭ cer￭ ca vol￭ vul￭ us symptoms include severe it￭ ching bu￭ mps under the skin and blindness it is the second most common cause of blindness due to infection after tr￭ ach￭ oma
fil￭ ari￭ asis
fil￭ ari￭ asis or phil￭ ari￭ asis is a par￭ asi￭ tic disease caused by an infection with round￭ worms of the fil￭ ari￭ o￭ idea type these are spread by blood feeding black flies and mosquitoes this disease belongs to the group of diseases called hel￭ min￭ thi￭ ases eight known fil￭ arial nemato￭ des use humans as their definitive hosts these are divided into three groups according to the niche within the body they occupy
lymp￭ h￭ atic fil￭ ari￭ asis
lymp￭ h￭ atic fil￭ ari￭ asis also known as eleph￭ anti￭ asis is a human disease caused by par￭ asi￭ tic worms known as fil￭ arial worms most cases of the disease have no symptoms some people however develop a syndrome called eleph￭ anti￭ asis which is marked by severe sw￭ elling in the arms legs or gen￭ itals the skin may also become thick￭ er and pain may occur the changes to the body can cause social and economic problems for the affected person
lo￭ a lo￭ a fil￭ ari￭ asis
lo￭ a lo￭ a fil￭ ari￭ asis is a skin and eye disease caused by the nemato￭ de worm lo￭ a lo￭ a humans contract this disease through the bite of a deer fly or man￭ go fly chr￭ ys￭ ops spp the vectors for lo￭ a lo￭ a the adult lo￭ a lo￭ a fil￭ arial worm migr￭ ates throughout the sub￭ cu￭ taneous tissues of humans occasionally crossing into sub￭ con￭ junc￭ ti￭ val tissues of the eye where it can be easily observed lo￭ a lo￭ a does not normally affect one s vision but can be painful when moving about the eye￭ ball or across the bridge of the nose the disease can cause red it￭ chy sw￭ ell￭ ings below the skin called calab￭ ar sw￭ ell￭ ings the disease is treated with the drug di￭ ethyl￭ carb￭ amaz￭ ine dec and when appropriate surgical methods may be employed to remove adult worms from the con￭ junc￭ tiva
trichin￭ osis
trichin￭ osis trichin￭ ellosis or tric￭ h￭ ini￭ asis is a par￭ asi￭ tic disease caused by round￭ worms of the genus trichinella infection was once very common but is now rare in the developed world the incidence of trichin￭ osis in the u s has decreased dramatically in the past century during 2008 2010 an annual average of 20 cases per year were reported in the united states several sub￭ species cause human disease but t spir￭ alis is the most known infection may occur without symptoms while intest￭ inal invasion can cause diarr￭ hea ab￭ domin￭ al pain or v￭ om￭ iting lar￭ val migration into muscle tissue one week after being infected can cause e￭ dem￭ a of the face or around the eyes con￭ junc￭ ti￭ vi￭ tis fever muscle pains spl￭ inter hemorrha￭ ges r￭ ashes and peripheral e￭ o￭ sin￭ ophi￭ lia life threatening cases can result
hook￭ worm infection
hook￭ worm infection also known as hook￭ worm disease is an infection by a par￭ asi￭ tic blood￭ sucking round￭ worm hook￭ worm infections include an￭ cy￭ lo￭ stom￭ i￭ asis and nec￭ atori￭ asis these worms live in the small intest￭ ine of their host which may be a bird or a mamm￭ al such as a dog cat or human hook￭ worm infection in pregnancy can cause retar￭ ded growth of the fe￭ tus premature birth and a low birth weight hook￭ worms in children can cause intellectual cognitive and growth problems
cu￭ taneous lar￭ va migr￭ ans
cu￭ taneous lar￭ va migr￭ ans abbreviated cl￭ m is a skin disease in humans caused by the lar￭ v￭ ae of various nemato￭ de parasites of the hook￭ worm family an￭ cy￭ lo￭ stom￭ ati￭ da￭ e the most common species causing this disease in the americas is an￭ cy￭ lo￭ stom￭ a braz￭ ili￭ ense these parasites live in the intest￭ ines of dogs cats and wild animals and should not be confused with other members of the hook￭ worm family for which humans are definitive hosts namely an￭ cy￭ lo￭ stom￭ a du￭ o￭ den￭ ale and nec￭ ator americ￭ an￭ us
tox￭ oc￭ ari￭ asis
tox￭ oc￭ ari￭ asis is an illness of humans caused by lar￭ v￭ ae immature worms of either the dog round￭ worm tox￭ o￭ car￭ a can￭ is the cat round￭ worm tox￭ o￭ car￭ a c￭ ati or the fox round￭ worm tox￭ o￭ car￭ a can￭ is tox￭ oc￭ ari￭ asis is often called vis￭ cer￭ al lar￭ va migr￭ ans vl￭ m depending on geographic location degree of e￭ o￭ sin￭ ophi￭ lia eye and or pul￭ mon￭ ary signs the terms oc￭ ular lar￭ va migr￭ ans ol￭ m we￭ ing￭ ar￭ ten s disease fri￭ mod￭ t m￭ ø￭ ller s syndrome and e￭ o￭ sin￭ oph￭ il￭ ic pseu￭ do￭ leuk￭ emia are applied to tox￭ oc￭ ari￭ asis other terms sometimes or rarely used include nemato￭ de oph￭ thal￭ miti￭ s tox￭ o￭ car￭ al disease tox￭ o￭ car￭ ose and covert tox￭ oc￭ ari￭ asis this zoonotic hel￭ min￭ th￭ ic infection is a major cause of blindness and may provoke r￭ heu￭ matic neuro￭ logic or asth￭ matic symptoms humans normally become infected by ing￭ estion of embry￭ on￭ ated eggs
hel￭ min￭ thi￭ asis
hel￭ min￭ thi￭ asis plural hel￭ min￭ thi￭ ases also known as worm infection is any macro￭ par￭ asi￭ tic disease of humans and other animals in which a part of the body is infected with par￭ asi￭ tic worms known as hel￭ min￭ ths there are numerous species of these parasites which are broadly classified into ta￭ pe￭ worms flu￭ kes and round￭ worms they often live in the gastro￭ intest￭ inal tract of their hosts but they may also bur￭ row into other organs where they induce physiological damage
hel￭ min￭ thi￭ asis plural hel￭ min￭ thi￭ ases also known as worm infection is any macro￭ par￭ asi￭ tic disease of humans and other animals in which a part of the body is infected with par￭ asi￭ tic worms known as hel￭ min￭ ths there are numerous species of these parasites which are broadly classified into ta￭ pe￭ worms flu￭ kes and round￭ worms they often live in the gastro￭ intest￭ inal tract of their hosts but they may also bur￭ row into other organs where they induce physiological damage soil transmitted hel￭ min￭ thi￭ asis and sch￭ is￭ to￭ som￭ i￭ asis are the most important hel￭ min￭ thi￭ ases and are among the neglected tropical diseases this group of hel￭ mi￭ an￭ thi￭ ases have been targeted under the joint action of the world s leading pharmaceutical companies and non governmental organizations through a project launched in 2012 called the london declaration on neglected tropical diseases which aims to control or eradicate certain neglected tropical diseases by 2020 hel￭ min￭ thi￭ asis has been found to result in poor birth outcome poor cognitive development poor school and work performance poor socioeconomic development and poverty chronic illness malnutrition and an￭ emia are further examples of secondary effects soil transmitted hel￭ min￭ thi￭ ases are responsible for par￭ asi￭ tic infections in as much as a quarter of the human population worldwide one well known example of soil transmitted hel￭ min￭ thi￭ ases is as￭ cari￭ asis
pe￭ dic￭ ul￭ osis
pe￭ dic￭ ul￭ osis is an inf￭ est￭ ation of lic￭ e blood feeding ec￭ top￭ ar￭ asi￭ tic insects of the order ph￭ thir￭ ap￭ tera the condition can occur in almost any species of warm bloo￭ ded animal i e mammals and birds including humans although pe￭ dic￭ ul￭ osis in humans may properly refer to lic￭ e inf￭ est￭ ation of any part of the body the term is sometimes used loosely to refer to pe￭ dic￭ ul￭ osis cap￭ i￭ tis the inf￭ est￭ ation of the human head with the specific head lou￭ se
s￭ cab￭ ies
s￭ cab￭ ies known as the seven year itch is a contagious skin inf￭ est￭ ation by the m￭ ite sar￭ cop￭ tes s￭ cab￭ ie￭ i the most common symptoms are severe it￭ chin￭ ess and a pim￭ ple like rash occasionally tiny bur￭ rows may be seen in the skin when first infected usually two to six weeks are required before symptoms occur if a person develops a second infection later in life symptoms may begin within a day these symptoms can be present across most of the body or just certain areas such as the w￭ rists between fingers or along the wa￭ ist￭ line the head may be affected but this is typically only in young children the itch is often worse at night scrat￭ ching may cause skin breakdown and an additional bacterial infection of the skin
s￭ cab￭ ies known as the seven year itch is a contagious skin inf￭ est￭ ation by the m￭ ite sar￭ cop￭ tes s￭ cab￭ ie￭ i the most common symptoms are severe it￭ chin￭ ess and a pim￭ ple like rash occasionally tiny bur￭ rows may be seen in the skin when first infected usually two to six weeks are required before symptoms occur if a person develops a second infection later in life symptoms may begin within a day these symptoms can be present across most of the body or just certain areas such as the w￭ rists between fingers or along the wa￭ ist￭ line the head may be affected but this is typically only in young children the itch is often worse at night scrat￭ ching may cause skin breakdown and an additional bacterial infection of the skin s￭ cab￭ ies is caused by infection with the female m￭ ite sar￭ cop￭ tes s￭ cab￭ ie￭ i the mit￭ es bur￭ row into the skin to live and deposit eggs the symptoms of s￭ cab￭ ies are due to an allergic reaction to the mit￭ es often only between ten and fifteen mit￭ es are involved in an infection s￭ cab￭ ies is most often spread during a relatively long period of direct skin contact with an infected person such as that which may occur during sex spread of disease may occur even if the person has not developed symptoms yet crowded living conditions such as those found in child care facilities group homes and prisons increase the risk of spread areas with a lack of access to water also have higher rates of disease cru￭ sted s￭ cab￭ ies is a more severe form of the disease it typically only occurs in those with a poor immune system and people may have millions of mit￭ es making them much more contagious in these cases spread of infection may occur during brief contact or via contaminated objects the m￭ ite is very small and usually not directly visible diagnosis is based on the signs and symptoms a number of medications are available to treat those infected including per￭ meth￭ rin cro￭ tam￭ it￭ on and lin￭ dane cre￭ ams and i￭ ver￭ mec￭ tin pills sexual contacts within the last month and people who live in the same house should also be treated at the same time bed￭ ding and clothing used in the last three days should be washed in hot water and dried in a hot dr￭ yer as the m￭ ite does not live for more than three days away from human skin more washing is not needed symptoms may continue for two to four weeks following treatment if after this time there continue to be symptoms re￭ treatment may be needed s￭ cab￭ ies is one of the three most common skin disorders in children along with ring￭ worm and bacterial skin infections as of 2010 it affects approximately 100 million people 1 5 of the world population and is equally common in both sexes the young and the old are more commonly affected it also occurs more commonly in the developing world and tropical clim￭ ates the word s￭ cab￭ ies is from latin s￭ cab￭ ere to scratch other animals do not spread human s￭ cab￭ ies infection in other animals is typically caused by slightly different but related mit￭ es and is known as sar￭ cop￭ tic man￭ ge
ac￭ ari￭ asis
my￭ i￭ asis
my￭ i￭ asis ˈ￭ ma￭ ɪ ə￭ s￭ ᵻ￭ s or ma￭ ɪ￭ ˈ￭ a￭ ɪ ə￭ s￭ ᵻ￭ s is the par￭ asi￭ tic inf￭ est￭ ation of the body of a live mamm￭ al by fly lar￭ v￭ ae mag￭ go￭ ts that grow inside the host while feeding on its tissue although flies are most commonly attracted to open wounds and urine or f￭ ec￭ es so￭ aked fur some species including the most common my￭ i￭ atic flies the bot￭ fly blow￭ fly and scre￭ w￭ fly can create an inf￭ est￭ ation even on un￭ broken skin and have been known to use mo￭ ist soil and non my￭ i￭ atic flies such as the common house￭ fly as vector agents for their par￭ asi￭ tic lar￭ v￭ ae
my￭ i￭ asis ˈ￭ ma￭ ɪ ə￭ s￭ ᵻ￭ s or ma￭ ɪ￭ ˈ￭ a￭ ɪ ə￭ s￭ ᵻ￭ s is the par￭ asi￭ tic inf￭ est￭ ation of the body of a live mamm￭ al by fly lar￭ v￭ ae mag￭ go￭ ts that grow inside the host while feeding on its tissue although flies are most commonly attracted to open wounds and urine or f￭ ec￭ es so￭ aked fur some species including the most common my￭ i￭ atic flies the bot￭ fly blow￭ fly and scre￭ w￭ fly can create an inf￭ est￭ ation even on un￭ broken skin and have been known to use mo￭ ist soil and non my￭ i￭ atic flies such as the common house￭ fly as vector agents for their par￭ asi￭ tic lar￭ v￭ ae col￭ lo￭ qui￭ alis￭ ms for my￭ i￭ asis include fl￭ y￭ strike and blow￭ fly strike and the victim or the tissue may be described as fly blown the name of the condition derives from ancient greek μ￭ υ￭ ῖ￭ α my￭ ia meaning fly because some animals particularly domestic animals cannot react as effectively as humans to the causes and effects of my￭ i￭ asis such inf￭ est￭ ations present a severe and continuing problem for livestock industries worldwide causing severe economic losses where they are not mitigated by human action although typically a far greater issue for animals my￭ i￭ asis is also a relatively frequent afflic￭ tion of humans in rural tropical regions where my￭ i￭ atic flies thrive and often may require medical attention to sur￭ g￭ ically remove the parasites my￭ i￭ asis varies widely in the forms it takes and its effects on the victims such variations depend largely on the fly species and where the lar￭ v￭ ae are located some flies lay eggs in open wounds other lar￭ v￭ ae may invade un￭ broken skin or enter the body through the nose or ears and still others may be swallowed if the eggs are deposited on the lips or on food
demo￭ di￭ co￭ sis
demo￭ di￭ co￭ sis also called demo￭ dec￭ tic man￭ ge or red man￭ ge is caused by a sensitivity to and over￭ population of demo￭ dex can￭ is as the animal s immune system is unable to keep the mit￭ es under control demo￭ dex is a genus of m￭ ite in the family demo￭ dic￭ idae demo￭ dex can￭ is occurs naturally in the hair fol￭ lic￭ les of most dogs in low numbers around the face and other areas of the body in most dogs these mit￭ es never cause problems however in certain situations such as an underdeveloped or impaired immune system intense stress or malnutrition the mit￭ es can reproduce rapidly causing symptoms in sensitive dogs that range from mild irritation and hair loss on a small patch of skin to severe and widespread infl￭ amm￭ ation secondary infection and in rare cases can be a life threatening condition small
proto￭ the￭ co￭ sis
proto￭ the￭ co￭ sis is a disease found in dogs cats cattle and humans caused by a type of green al￭ ga known as proto￭ th￭ eca that lacks chlor￭ op￭ hy￭ ll it and its close relative heli￭ cos￭ por￭ idi￭ um are unusual in that they are actually green al￭ ga￭ e that have become parasites the two most common species are proto￭ th￭ eca wick￭ er￭ ham￭ ii and proto￭ th￭ eca z￭ op￭ fi￭ i both are known to cause disease in dogs while most human cases are caused by p wick￭ er￭ ham￭ i proto￭ th￭ eca is found worldwide in sewage and soil infection is rare despite high exposure and can be related to a defective immune system in dogs females and col￭ lies are most commonly affected
proto￭ the￭ co￭ sis is a disease found in dogs cats cattle and humans caused by a type of green al￭ ga known as proto￭ th￭ eca that lacks chlor￭ op￭ hy￭ ll it and its close relative heli￭ cos￭ por￭ idi￭ um are unusual in that they are actually green al￭ ga￭ e that have become parasites the two most common species are proto￭ th￭ eca wick￭ er￭ ham￭ ii and proto￭ th￭ eca z￭ op￭ fi￭ i both are known to cause disease in dogs while most human cases are caused by p wick￭ er￭ ham￭ i proto￭ th￭ eca is found worldwide in sewage and soil infection is rare despite high exposure and can be related to a defective immune system in dogs females and col￭ lies are most commonly affected the first human case was identified in 1964 in sierra leone
post polio syndrome
post polio syndrome p￭ ps or post poli￭ om￭ ye￭ li￭ tis syndrome or post polio sequ￭ el￭ ae is a condition that affects approximately 25 – 40 of people who have previously survived an acute attack of poli￭ om￭ ye￭ li￭ tis — a viral infection of the nervous system — after the initial infection typically the symptoms appear 15 – 30 years after recovery from the original paraly￭ tic attack at an age of 35 to 60 symptoms include acute or increased muscular weakness pain in the muscles and fatigue the same symptoms may also occur years after a non￭ paraly￭ tic polio n￭ pp infection
group a st￭ rep￭ to￭ coc￭ cal infection
a group a st￭ rep￭ to￭ coc￭ cal infection is an infection with group a st￭ rep￭ to￭ co￭ cc￭ us gas st￭ rep￭ to￭ co￭ cc￭ us py￭ o￭ genes comprises the vast majority of the lan￭ ce￭ field group a st￭ rep￭ to￭ coc￭ ci and is often used as a synon￭ ym for gas however s dys￭ gal￭ acti￭ ae can also be group a s py￭ o￭ genes is a beta hem￭ ol￭ y￭ tic species of gram positive bacteria that is responsible for a wide range of both invasive and non￭ invasive infections
aden￭ o￭ virus infection
aden￭ o￭ virus infections most commonly cause illness of the respiratory system however depending on the inf￭ ecting sero￭ type they may also cause various other illnesses and presentations
human pap￭ il￭ lo￭ ma￭ virus infection
human pap￭ il￭ lo￭ ma￭ virus infection is an infection by human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v most h￭ p￭ v infections cause no symptoms and resolve spontaneously in some they persist and result in war￭ ts or pre￭ can￭ cer￭ ous le￭ sions the pre￭ can￭ cer￭ ous le￭ sions increase the risk of cancer of the cer￭ vi￭ x vul￭ va vag￭ ina penis an￭ us mouth or throat nearly all cer￭ vic￭ al cancer is due to h￭ p￭ v with two types h￭ p￭ v 16 and h￭ p￭ v 18 accounting for 70 of cases between 60 and 90 of the other cancers are also linked to h￭ p￭ v h￭ p￭ v 6 and h￭ p￭ v 11 are common causes of genital war￭ ts and respiratory pap￭ il￭ lo￭ mat￭ osis
human pap￭ il￭ lo￭ ma￭ virus infection is an infection by human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v most h￭ p￭ v infections cause no symptoms and resolve spontaneously in some they persist and result in war￭ ts or pre￭ can￭ cer￭ ous le￭ sions the pre￭ can￭ cer￭ ous le￭ sions increase the risk of cancer of the cer￭ vi￭ x vul￭ va vag￭ ina penis an￭ us mouth or throat nearly all cer￭ vic￭ al cancer is due to h￭ p￭ v with two types h￭ p￭ v 16 and h￭ p￭ v 18 accounting for 70 of cases between 60 and 90 of the other cancers are also linked to h￭ p￭ v h￭ p￭ v 6 and h￭ p￭ v 11 are common causes of genital war￭ ts and respiratory pap￭ il￭ lo￭ mat￭ osis h￭ p￭ v infection is caused by a human pap￭ il￭ lo￭ ma￭ virus a dna virus from the pap￭ il￭ lo￭ ma￭ virus family of which over 150 types are known more than 40 types are transmitted through sexual contact and infect the an￭ us and gen￭ itals risk factors for persistent h￭ p￭ v infections include early age of first sexual inter￭ course multiple partners smoking and poor immune function h￭ p￭ v is typically spread by sustained direct skin to skin contact with vag￭ inal and anal sex being the most common methods occasionally it can spread from a mother to her baby during pregnancy it does not spread via common items like toilet seats people can become infected with more than one type of h￭ p￭ v h￭ p￭ v only affects humans h￭ p￭ v vaccines can prevent the most common types of infection to be effective they must be used before an infection occurs and are therefore recommended between the ages of nine and 13 cer￭ vic￭ al cancer screening such as with the pap￭ ani￭ co￭ la￭ ou test p￭ ap or looking at the cer￭ vi￭ x after using acetic acid can detect early cancer or abnormal cells that may develop into cancer this allows for early treatment which results in better outcomes screening has reduced both the number and deaths from cer￭ vic￭ al cancer in the developed world war￭ ts can be removed by freezing h￭ p￭ v is the most common sexually transmitted infection globally most people are infected at some point in their lives in 2012 about 528 000 new cases and 266 000 deaths occurred from cer￭ vic￭ al cancer worldwide around 85 of these occurred in the developing world in the united states about 27 000 cases of cancer due to h￭ p￭ v occur each year about 1 of sexually active adults have genital war￭ ts while cases of war￭ ts have been described since the time of ancient greece their viral nature was discovered in 1907
heli￭ co￭ bac￭ ter p￭ yl￭ ori
heli￭ co￭ bac￭ ter p￭ yl￭ ori previously camp￭ y￭ lob￭ ac￭ ter p￭ yl￭ ori is a gram negative micro￭ aer￭ oph￭ il￭ ic bacter￭ ium found usually in the stomach it was identified in 1982 by australian scientists barry marshall and robin warren who found that it was present in a person with chronic gast￭ ri￭ tis and ga￭ str￭ ic ul￭ cers conditions not previously believed to have a micro￭ bial cause it is also linked to the development of du￭ o￭ den￭ al ul￭ cers and stomach cancer however over 80 of individuals infected with the bacter￭ ium are as￭ ymp￭ tomatic and it may play an important role in the natural stomach ecology
oral cancer
oral cancer also known as mouth cancer is a type of head and neck cancer and is any can￭ cer￭ ous tissue growth located in the oral cav￭ ity it may arise as a primary le￭ sion originating in any of the tissues in the mouth by me￭ tast￭ asis from a distant site of origin or by extension from a neighboring an￭ atomic structure such as the nas￭ al cav￭ ity alternatively the oral cancers may originate in any of the tissues of the mouth and may be of varied his￭ to￭ logic types ter￭ atom￭ a aden￭ o￭ carcin￭ oma derived from a major or minor sali￭ vary g￭ land lymp￭ homa from ton￭ sill￭ ar or other lymp￭ ho￭ id tissue or mel￭ anom￭ a from the pig￭ ment producing cells of the oral mu￭ co￭ sa there are several types of oral cancers but around 90 are squ￭ am￭ ous cell carcin￭ om￭ as originating in the tissues that line the mouth and lips oral
cancer
cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body not all tumors are can￭ cer￭ ous benign tumors do not spread to other parts of the body possible signs and symptoms include a lump abnormal bleeding prolonged cough un￭ explained weight loss and a change in bo￭ wel movements while these symptoms may indicate cancer they may have other causes over 100 cancers affect humans
cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body not all tumors are can￭ cer￭ ous benign tumors do not spread to other parts of the body possible signs and symptoms include a lump abnormal bleeding prolonged cough un￭ explained weight loss and a change in bo￭ wel movements while these symptoms may indicate cancer they may have other causes over 100 cancers affect humans tobacco use is the cause of about 22 of cancer deaths another 10 is due to obesity poor diet lack of physical activity and drinking alcohol other factors include certain infections exposure to ionizing radiation and environmental pollutants in the developing world nearly 20 of cancers are due to infections such as hepatitis b hepatitis c and human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v these factors act at least partly by changing the genes of a cell typically many genetic changes are required before cancer develops approximately 5 – 10 of cancers are due to inherited genetic defects from a person s parents cancer can be detected by certain signs and symptoms or screening tests it is then typically further investigated by medical imaging and confirmed by biopsy many cancers can be prevented by not smoking maintaining a healthy weight not drinking too much alcohol eating plenty of vegetables fruits and whole grains vaccination against certain infectious diseases not eating too much processed and red meat and avoiding too much sunlight exposure early detection through screening is useful for cer￭ vic￭ al and colo￭ rec￭ tal cancer the benefits of screening in breast cancer are controversial cancer is often treated with some combination of radiation therapy surgery chem￭ otherapy and targeted therapy pain and symptom management are an important part of care palliative care is particularly important in people with advanced disease the chance of survival depends on the type of cancer and extent of disease at the start of treatment in children under 15 at diagnosis the five year survival rate in the developed world is on average 80 for cancer in the united states the average five year survival rate is 66 in 2012 about 14 1 million new cases of cancer occurred globally not including skin cancer other than mel￭ anom￭ a it caused about 8 2 million deaths or 14 6 of human deaths the most common types of cancer in males are lung cancer pro￭ state cancer colo￭ rec￭ tal cancer and stomach cancer in females the most common types are breast cancer colo￭ rec￭ tal cancer lung cancer and cer￭ vic￭ al cancer if skin cancer other than mel￭ anom￭ a were included in total new cancers each year it would account for around 40 of cases in children acute lymp￭ ho￭ bl￭ astic leuk￭ aemia and brain tumors are most common except in africa where non ho￭ dg￭ kin lymp￭ homa occurs more often in 2012 about 165 000 children under 15 years of age were diagnosed with cancer the risk of cancer increases significantly with age and many cancers occur more commonly in developed countries rates are increasing as more people live to an old age and as lifestyle changes occur in the developing world the financial costs of cancer were estimated at 1 16 trillion us dollars per year as of 2010
nas￭ op￭ har￭ yn￭ x cancer
nas￭ op￭ har￭ yn￭ x cancer or nas￭ op￭ har￭ yn￭ ge￭ al carcin￭ oma n￭ pc is the most common cancer originating in the nas￭ op￭ har￭ yn￭ x the up￭ per￭ most region of the phar￭ yn￭ x throat behind the nose where the nas￭ al passages and aud￭ itory tubes join the remainder of the upper respiratory tract n￭ pc occurs in children and adults n￭ pc differs significantly from other cancers of the head and neck in its occurrence causes clinical behavior and treatment it is vastly more common in certain regions of east asia and africa than elsewhere with viral dietary and genetic factors implicated in its causation it is most common in males it is a squ￭ am￭ ous cell carcin￭ oma or an un￭ differentiated type squ￭ am￭ ous epi￭ the￭ li￭ al cells are a flat type of cell found in the skin and the memb￭ ran￭ es that line some body ca￭ vities differenti
hypo￭ phar￭ yn￭ ge￭ al cancer
hypo￭ phar￭ yn￭ ge￭ al cancer is a disease in which m￭ align￭ ant cells grow in the hypo￭ phar￭ yn￭ x the area where the lar￭ yn￭ x and es￭ op￭ ha￭ gus meet it first forms in the outer layer epi￭ the￭ lium of the hypo￭ phar￭ yn￭ x last part of the phar￭ yn￭ x which is split into three areas progression of the disease is defined by the spread of cancer into one or more areas and into deeper tissues
es￭ op￭ ha￭ ge￭ al cancer
es￭ op￭ ha￭ ge￭ al cancer or o￭ es￭ op￭ ha￭ ge￭ al cancer is cancer arising from the es￭ op￭ ha￭ gus — the food pipe that runs between the throat and the stomach symptoms often include difficulty in sw￭ allowing and weight loss other symptoms may include pain when sw￭ allowing a ho￭ arse voice enlarged lymp￭ h no￭ des g￭ lands around the col￭ lar￭ bone a dry cough and possibly cou￭ gh￭ ing up or v￭ om￭ iting blood
stomach cancer
stomach cancer also known as ga￭ str￭ ic cancer is cancer developing from the lining of the stomach early symptoms may include heart￭ burn upper ab￭ domin￭ al pain naus￭ ea and loss of appetite later signs and symptoms may include weight loss yel￭ lowing of the skin and whites of the eyes v￭ om￭ iting difficulty sw￭ allowing and blood in the sto￭ ol among others the cancer may spread from the stomach to other parts of the body particularly the liver lungs bones lining of the ab￭ dom￭ en and lymp￭ h no￭ des
stomach cancer also known as ga￭ str￭ ic cancer is cancer developing from the lining of the stomach early symptoms may include heart￭ burn upper ab￭ domin￭ al pain naus￭ ea and loss of appetite later signs and symptoms may include weight loss yel￭ lowing of the skin and whites of the eyes v￭ om￭ iting difficulty sw￭ allowing and blood in the sto￭ ol among others the cancer may spread from the stomach to other parts of the body particularly the liver lungs bones lining of the ab￭ dom￭ en and lymp￭ h no￭ des the most common cause is infection by the bacter￭ ium heli￭ co￭ bac￭ ter p￭ yl￭ ori which accounts for more than 60 of cases certain types of h p￭ yl￭ ori have greater risks than others other common causes include eating pick￭ led vegetables and smoking about 10 of cases run in families and between 1 and 3 of cases are due to genetic syndro￭ mes inherited from a person s parents such as hereditary diffuse ga￭ str￭ ic cancer most cases of stomach cancers are ga￭ str￭ ic carcin￭ om￭ as this type can be divided into a number of sub￭ types lymp￭ hom￭ as and mes￭ en￭ ch￭ ym￭ al tumors may also develop in the stomach most of the time stomach cancer develops in stages over years diagnosis is usually by biopsy done during endo￭ sco￭ py this is followed by medical imaging to determine if the disease has spread to other parts of the body japan and south korea two countries that have high rates of the disease screen for stomach cancer a mediterranean diet lowers the risk of cancer as does the stopping of smoking there is tentative evidence that treating h p￭ yl￭ ori decreases the future risk if cancer is treated early many cases can be cured treatments may include some combination of surgery chem￭ otherapy radiation therapy and targeted therapy if treated late palliative care may be advised outcomes are often poor with a less than 10 5 year survival rate globally this is largely because most people with the condition present with advanced disease in the united states 5 year survival is 28 while in south korea it is over 65 partly due to screening efforts globally stomach cancer is the fifth leading cause of cancer and the third leading cause of death from cancer making up 7 of cases and 9 of deaths in 2012 it occurred in 950 000 people and caused 723 000 deaths before the 1930 s in much of the world including most western developed countries it was the most common cause of death from cancer rates of death have been decreasing in many areas of the world since then this is believed to be due to the eating of less sal￭ ted and pick￭ led foods as a result of the development of refrigeration as a method of keeping food fresh stomach cancer occurs most commonly in east asia and eastern europe it occurs twice as often in males as in females
mec￭ kel s diver￭ ticul￭ um
a mec￭ kel s diver￭ ticul￭ um a true con￭ genital diver￭ ticul￭ um is a slight bul￭ ge in the small intest￭ ine present at birth and a vesti￭ gi￭ al rem￭ nant of the om￭ p￭ hal￭ om￭ es￭ enter￭ ic duc￭ t also called the vit￭ ell￭ ine duc￭ t or y￭ ol￭ k stal￭ k it is the most common mal￭ formation of the gastro￭ intest￭ inal tract and is present in approximately 2 of the population with males more frequently experiencing symptoms mec￭ kel s diver￭ ticul￭ um was first explained by fabric￭ ius hil￭ dan￭ us in the sixteenth century and later named after jo￭ han￭ n friedrich mec￭ kel who described the embry￭ ological origin of this type of diver￭ ticul￭ um in 18￭ 09
famili￭ al aden￭ om￭ at￭ ous poly￭ pos￭ is
famili￭ al aden￭ om￭ at￭ ous poly￭ pos￭ is f￭ ap is an inherited condition in which numerous aden￭ om￭ at￭ ous poly￭ ps form mainly in the epi￭ the￭ lium of the large intest￭ ine while these poly￭ ps start out benign m￭ align￭ ant transformation into col￭ on cancer occurs when they are left untreated three variants are known to exist f￭ ap and attenu￭ ated f￭ ap originally called hereditary flat aden￭ oma syndrome are caused by ap￭ c gene defects on chro￭ mo￭ some 5 while auto￭ som￭ al rec￭ essive f￭ ap or my￭ h associated poly￭ pos￭ is is caused by defects in the mu￭ ty￭ h gene on chro￭ mo￭ some 1 of the three f￭ ap itself is the most severe and most common although for all three the resulting colon￭ ic poly￭ ps and cancers are confined to the col￭ on wall and removal can greatly reduce the spread of cancer
hereditary non￭ poly￭ pos￭ is colo￭ rec￭ tal cancer
lyn￭ ch syndrome hn￭ p￭ cc or hereditary non￭ poly￭ pos￭ is colo￭ rec￭ tal cancer is an auto￭ som￭ al dominant genetic condition that has a high risk of col￭ on cancer as well as other cancers including end￭ ome￭ trial cancer second most common o￭ vary stomach small intest￭ ine he￭ pat￭ ob￭ ili￭ ary tract upper ur￭ inary tract brain and skin the increased risk for these cancers is due to inherited mutations that impair dna mis￭ match repair it is a type of cancer syndrome
colo￭ rec￭ tal cancer
colo￭ rec￭ tal cancer cr￭ c also known as bo￭ wel cancer is the development of cancer from the col￭ on or rec￭ tum parts of the large intest￭ ine it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body signs and symptoms may include blood in the sto￭ ol a change in bo￭ wel movements weight loss and feeling tired all the time
colo￭ rec￭ tal cancer cr￭ c also known as bo￭ wel cancer is the development of cancer from the col￭ on or rec￭ tum parts of the large intest￭ ine it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body signs and symptoms may include blood in the sto￭ ol a change in bo￭ wel movements weight loss and feeling tired all the time most colo￭ rec￭ tal cancers are due to old age and lifestyle factors with only a small number of cases due to underlying genetic disorders some risk factors include diet obesity smoking and lack of physical activity dietary factors that increase the risk include red and processed meat as well as alcohol another risk factor is infl￭ am￭ matory bo￭ wel disease which includes cro￭ hn s disease and ul￭ cer￭ ative co￭ li￭ tis some of the inherited genetic disorders that can cause colo￭ rec￭ tal cancer include famili￭ al aden￭ om￭ at￭ ous poly￭ pos￭ is and hereditary non poly￭ pos￭ is col￭ on cancer however these represent less than 5 of cases it typically starts as a benign tumor often in the form of a poly￭ p which over time becomes can￭ cer￭ ous bo￭ wel cancer may be diagnosed by obtaining a sample of the col￭ on during a sig￭ mo￭ ido￭ sco￭ py or colon￭ o￭ sco￭ py this is then followed by medical imaging to determine if the disease has spread screening is effective for preventing and decreasing deaths from colo￭ rec￭ tal cancer screening is recommended starting from the age of 50 to 75 during colon￭ o￭ sco￭ py small poly￭ ps may be removed if found if a large poly￭ p or tumor is found a biopsy may be performed to check if it is can￭ cer￭ ous aspir￭ in and other non ster￭ o￭ idal anti infl￭ am￭ matory drugs decrease the risk their general use is not recommended for this purpose however due to side effects treatments used for colo￭ rec￭ tal cancer may include some combination of surgery radiation therapy chem￭ otherapy and targeted therapy cancers that are confined within the wall of the col￭ on may be cur￭ able with surgery while cancer that has spread widely are usually not cur￭ able with management focusing on improving quality of life and symptoms five year survival rates in the united states are around 65 this however depends on how advanced the cancer is whether or not all the cancer can be removed with surgery and the person s overall health globally colo￭ rec￭ tal cancer is the third most common type of cancer making up about 10 of all cases in 2012 there were 1 4 million new cases and 694 000 deaths from the disease it is more common in developed countries where more than 65 of cases are found it is less common in women than men
anal cancer
anal cancer is a cancer m￭ align￭ ant tumor which arises from the an￭ us the dis￭ tal opening of the gastro￭ intest￭ inal tract it is a distinct entity from the more common colo￭ rec￭ tal cancer anal cancer is typically an anal squ￭ am￭ ous cell carcin￭ oma that arises near the squ￭ am￭ o￭ colum￭ nar junction often linked to human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v infection it may be ker￭ at￭ ini￭ zing bas￭ alo￭ id or non ker￭ at￭ ini￭ zing clo￭ a￭ co￭ genic other types of anal cancer are aden￭ o￭ carcin￭ oma lymp￭ homa sar￭ coma or mel￭ anom￭ a from data collected 2004 2010 the relative five year survival rate in the united states is 65 5 though individual rates may vary depending upon the stage of cancer at diagnosis and the response to treatment
liver cancer
liver cancer also known as he￭ p￭ atic cancer and primary he￭ p￭ atic cancer is cancer that starts in the liver cancer which has spread from elsewhere to the liver known as liver me￭ tast￭ asis is more common than that which starts in the liver symptoms of liver cancer may include a lump or pain in the right side below the ri￭ b cage other symptoms includes sw￭ elling of the ab￭ dom￭ en yel￭ low￭ ish skin easy bru￭ ising weight loss and weakness
he￭ pat￭ oc￭ ell￭ ular carcin￭ oma
he￭ pat￭ oc￭ ell￭ ular carcin￭ oma h￭ cc also called m￭ align￭ ant he￭ pat￭ oma is the most common type of liver cancer most cases of h￭ cc are as a result of either a viral hepatitis infection hepatitis b or c metabol￭ ic toxins such as alcohol or aflatoxin conditions like h￭ emo￭ chro￭ mat￭ osis and alpha 1 anti￭ try￭ p￭ sin deficiency or n￭ ash h￭ cc is relatively un￭ common in the united states and many other developed countries it occurs most commonly in countries where hepatitis b infections are common
he￭ pat￭ obl￭ ast￭ oma
he￭ pat￭ obl￭ ast￭ oma is an un￭ common m￭ align￭ ant liver cancer occurring in infants and children and composed of tissue resembling fe￭ tal liver cells mature liver cells or bile duc￭ t cells they usually present with an ab￭ domin￭ al mass the disease is most commonly diagnosed during a child s first three years of life alpha fe￭ to￭ protein af￭ p levels are commonly elevated but when af￭ p is not elevated at diagnosis the prog￭ no￭ sis is poor
chol￭ an￭ gi￭ o￭ carcin￭ oma
chol￭ an￭ gi￭ o￭ carcin￭ oma or bile duc￭ t cancer is a form of cancer that is composed of mut￭ ated epi￭ the￭ li￭ al cells or cells showing characteristics of epi￭ the￭ li￭ al differentiation that originate in the bile duc￭ ts which drain bile from the liver into the small intest￭ ine other bi￭ li￭ ary tract cancers include gall￭ blad￭ der cancer and cancer of the am￭ pul￭ la of v￭ ater
chol￭ an￭ gi￭ o￭ carcin￭ oma or bile duc￭ t cancer is a form of cancer that is composed of mut￭ ated epi￭ the￭ li￭ al cells or cells showing characteristics of epi￭ the￭ li￭ al differentiation that originate in the bile duc￭ ts which drain bile from the liver into the small intest￭ ine other bi￭ li￭ ary tract cancers include gall￭ blad￭ der cancer and cancer of the am￭ pul￭ la of v￭ ater chol￭ an￭ gi￭ o￭ carcin￭ oma is a relatively rare ne￭ op￭ las￭ m that is classified as an aden￭ o￭ carcin￭ oma a cancer that forms g￭ lands or secre￭ tes significant amounts of m￭ uc￭ ins it has an annual incidence rate of 1 – 2 cases per 100 000 in the western world but rates of chol￭ an￭ gi￭ o￭ carcin￭ oma have been rising worldwide over the past few decades prominent signs and symptoms of chol￭ an￭ gi￭ o￭ carcin￭ oma include abnormal liver function tests ab￭ domin￭ al pain ja￭ und￭ ice and weight loss other symptoms such as generalized it￭ ching fever and changes in color of sto￭ ol or urine may also occur the disease is diagnosed through a combination of blood tests imaging endo￭ sco￭ py and sometimes surgical exploration with confirmation obtained after a patho￭ logist examines cells from the tumor under a micro￭ scope known risk factors for chol￭ an￭ gi￭ o￭ carcin￭ oma include primary s￭ cl￭ ero￭ sing chol￭ an￭ gi￭ tis an infl￭ am￭ matory disease of the bile duc￭ ts infection with the par￭ asi￭ tic liver flu￭ kes op￭ is￭ thor￭ ch￭ is vi￭ ver￭ r￭ ini or cl￭ on￭ orch￭ is sin￭ ensis some con￭ genital liver mal￭ formations and exposure to thor￭ o￭ tr￭ ast th￭ orium dioxide a chemical formerly used in medical imaging however most people with chol￭ an￭ gi￭ o￭ carcin￭ oma have no identifiable risk factors chol￭ an￭ gi￭ o￭ carcin￭ oma is considered to be an incur￭ able and rapidly lethal cancer unless both the primary tumor and any me￭ tast￭ ases can be fully removed by surgery no potentially cur￭ ative treatment exists except surgery but most people have advanced stage disease at presentation and are in￭ oper￭ able at the time of diagnosis people with chol￭ an￭ gi￭ o￭ carcin￭ oma are generally managed though not cured with chem￭ otherapy radiation therapy and other palliative care measures these are also used as additional therapies after surgery in cases where res￭ ection has apparently been successful or nearly so
gall￭ blad￭ der cancer
gall￭ blad￭ der cancer is a relatively un￭ common cancer it has peculiar geographical distribution being common in central and south america central and eastern europe japan and northern india it is also common in certain ethnic groups e g native american indians and his￭ panics if it is diagnosed early enough it can be cured by removing the gall￭ blad￭ der part of the liver and associated lymp￭ h no￭ des most often it is found after symptoms such as ab￭ domin￭ al pain ja￭ und￭ ice and v￭ om￭ iting occur and it has spread to other organs such as the liver
k￭ lat￭ skin tumor
a k￭ lat￭ skin tumor or hil￭ ar chol￭ an￭ gi￭ o￭ carcin￭ oma is a chol￭ an￭ gi￭ o￭ carcin￭ oma cancer of the bi￭ li￭ ary tree occurring at the con￭ flu￭ ence of the right and left he￭ p￭ atic bile duc￭ ts it is named after dr gerald k￭ lat￭ skin
pan￭ cre￭ atic cancer
pan￭ cre￭ atic cancer arises when cells in the pan￭ cre￭ as a g￭ land￭ ular organ behind the stomach begin to multiply out of control and form a mass these can￭ cer￭ ous cells have the ability to invade other parts of the body there are a number of types of pan￭ cre￭ atic cancer the most common pan￭ cre￭ atic aden￭ o￭ carcin￭ oma accounts for about 85 of cases and the term pan￭ cre￭ atic cancer is sometimes used to refer only to that type these aden￭ o￭ carcin￭ om￭ as start within the part of the pan￭ cre￭ as which makes dig￭ estive enzymes several other types of cancer which collectively represent the majority of the non aden￭ o￭ carcin￭ om￭ as can also arise from these cells 1 2 of cases of pan￭ cre￭ atic cancer are neuro￭ endocrine tumors which arise from the hormone producing cells of the pan￭ cre￭ as these are generally less ag￭ gr￭ e
pan￭ cre￭ atic cancer arises when cells in the pan￭ cre￭ as a g￭ land￭ ular organ behind the stomach begin to multiply out of control and form a mass these can￭ cer￭ ous cells have the ability to invade other parts of the body there are a number of types of pan￭ cre￭ atic cancer the most common pan￭ cre￭ atic aden￭ o￭ carcin￭ oma accounts for about 85 of cases and the term pan￭ cre￭ atic cancer is sometimes used to refer only to that type these aden￭ o￭ carcin￭ om￭ as start within the part of the pan￭ cre￭ as which makes dig￭ estive enzymes several other types of cancer which collectively represent the majority of the non aden￭ o￭ carcin￭ om￭ as can also arise from these cells 1 2 of cases of pan￭ cre￭ atic cancer are neuro￭ endocrine tumors which arise from the hormone producing cells of the pan￭ cre￭ as these are generally less aggressive than pan￭ cre￭ atic aden￭ o￭ carcin￭ oma signs and symptoms of the most common form of pan￭ cre￭ atic cancer may include yellow skin ab￭ domin￭ al or back pain un￭ explained weight loss light colored sto￭ ols dark urine and loss of appetite there are usually no symptoms in the disease s early stages and symptoms that are specific enough to suggest pan￭ cre￭ atic cancer typically do not develop until the disease has reached an advanced stage by the time of diagnosis pan￭ cre￭ atic cancer has often spread to other parts of the body pan￭ cre￭ atic cancer rarely occurs before the age of 40 and more than half of cases of pan￭ cre￭ atic aden￭ o￭ carcin￭ oma occur in those over 70 risk factors for pan￭ cre￭ atic cancer include tobacco smoking obesity diabetes and certain rare genetic conditions about 25 of cases are linked to smoking and 5 – 10 are linked to inherited genes pan￭ cre￭ atic cancer is usually diagnosed by a combination of medical imaging techniques such as ul￭ tras￭ ound or compu￭ ted tom￭ o￭ graphy blood tests and examination of tissue samples biopsy the disease is divided into stages from early stage i to late stage iv screening the general population has not been found to be effective the risk of developing pan￭ cre￭ atic cancer is lower among non smokers and people who maintain a healthy weight and limit their consumption of red or processed meat a smo￭ ker s chance of developing the disease decreases if they stop smoking and almost returns to that of the rest of the population after 20 years pan￭ cre￭ atic cancer can be treated with surgery radi￭ otherapy chem￭ otherapy palliative care or a combination of these treatment options are partly based on the cancer stage surgery is the only treatment that can cure pan￭ cre￭ atic aden￭ o￭ carcin￭ oma and may also be done to improve quality of life without the potential for cure pain management and medications to improve dig￭ estion are sometimes needed early palliative care is recommended even for those receiving treatment that aims for a cure in 2012 pan￭ cre￭ atic cancers of all types were the seventh most common cause of cancer deaths resulting in 330 000 deaths globally pan￭ cre￭ atic cancer is the fifth most common cause of death from cancer in the united kingdom and the fourth most common in the united states the disease occurs most often in the developed world where about 70 of the new cases in 2012 originated pan￭ cre￭ atic aden￭ o￭ carcin￭ oma typically has a very poor prog￭ no￭ sis after diagnosis 25 of people survive one year and 5 live for five years for cancers diagnosed early the five year survival rate rises to about 20 neuro￭ endocrine cancers have better outcomes at five years from diagnosis 65 of those diagnosed are living though survival varies considerably depending on the type of tumor
gl￭ uc￭ agon￭ oma
insul￭ in￭ oma
an insul￭ in￭ oma is a tumor of the pan￭ cre￭ as that is derived from beta cells and secre￭ tes insulin it is a rare form of a neuro￭ endocrine tumor most insul￭ in￭ om￭ as are benign in that they grow exclusively at their origin within the pan￭ cre￭ as but a minority me￭ tast￭ asi￭ ze insul￭ in￭ om￭ as are one of the functional pan￭ net group functional because it increases production of insulin pan￭ net as an abbreviation of pan￭ cre￭ atic neuro￭ endocrine tumor in the medical subject headings classification insul￭ in￭ oma is the only sub type of is￭ let cell aden￭ oma
vi￭ po￭ ma
a vi￭ po￭ ma also known as vern￭ er – mor￭ rison syndrome after the physicians who first described it is a rare 1 per 10 000 000 per year endocrine tumor usually about 90 originating from non β is￭ let cell of the pan￭ cre￭ as that produce vas￭ o￭ active intest￭ inal pep￭ tide vi￭ p it may be associated with multiple endocrine ne￭ op￭ la￭ sia type 1
esthe￭ sion￭ euro￭ bl￭ ast￭ oma
lar￭ yn￭ ge￭ al cancer
lar￭ yn￭ ge￭ al cancer also known as cancer of the lar￭ yn￭ x or lar￭ yn￭ ge￭ al carcin￭ oma are mostly squ￭ am￭ ous cell carcin￭ om￭ as reflecting their origin from the skin of the lar￭ yn￭ x cancer can develop in any part of the lar￭ yn￭ x but the cure rate is affected by the location of the tum￭ our for the purposes of tum￭ our staging the lar￭ yn￭ x is divided into three anatom￭ ical regions the glo￭ t￭ tis true vocal cords an￭ terior and poster￭ ior commis￭ sures the supr￭ ag￭ lot￭ tis ep￭ ig￭ lot￭ tis ar￭ y￭ ten￭ oids and ar￭ ye￭ pi￭ glo￭ t￭ tic fol￭ ds and false cords and the sub￭ glo￭ t￭ tis
lung cancer
lung cancer also known as lung carcin￭ oma is a m￭ align￭ ant lung tumor characterized by uncontrolled cell growth in tissues of the lung if left untreated this growth can spread beyond the lung by the process of me￭ tast￭ asis into nearby tissue or other parts of the body most cancers that start in the lung known as primary lung cancers are carcin￭ om￭ as the two main types are small cell lung carcin￭ oma s￭ cl￭ c and non small cell lung carcin￭ oma n￭ s￭ cl￭ c the most common symptoms are cou￭ gh￭ ing including cou￭ gh￭ ing up blood weight loss short￭ ness of breath and chest pains
lung cancer also known as lung carcin￭ oma is a m￭ align￭ ant lung tumor characterized by uncontrolled cell growth in tissues of the lung if left untreated this growth can spread beyond the lung by the process of me￭ tast￭ asis into nearby tissue or other parts of the body most cancers that start in the lung known as primary lung cancers are carcin￭ om￭ as the two main types are small cell lung carcin￭ oma s￭ cl￭ c and non small cell lung carcin￭ oma n￭ s￭ cl￭ c the most common symptoms are cou￭ gh￭ ing including cou￭ gh￭ ing up blood weight loss short￭ ness of breath and chest pains the vast majority 85 of cases of lung cancer are due to long term tobacco smoking about 10 – 15 of cases occur in people who have never smoked these cases are often caused by a combination of genetic factors and exposure to rad￭ on gas asbestos second hand smoke or other forms of air pollution lung cancer may be seen on chest radio￭ graphs and compu￭ ted tom￭ o￭ graphy ct sc￭ ans the diagnosis is confirmed by biopsy which is usually performed by bron￭ cho￭ sco￭ py or ct guidance prevention is by avoiding risk factors including smoking and air pollution treatment and long term outcomes depend on the type of cancer the stage degree of spread and the person s overall health most cases are not cur￭ able common treatments include surgery chem￭ otherapy and radi￭ otherapy n￭ s￭ cl￭ c is sometimes treated with surgery whereas s￭ cl￭ c usually responds better to chem￭ otherapy and radi￭ otherapy worldwide in 2012 lung cancer occurred in 1 8 million people and resulted in 1 6 million deaths this makes it the most common cause of cancer related death in men and second most common in women after breast cancer the most common age at diagnosis is 70 years overall 17 4 of people in the united states diagnosed with lung cancer survive five years after the diagnosis while outcomes on average are worse in the developing world
aden￭ o￭ carcin￭ oma in situ of the lung
in situ pul￭ mon￭ ary aden￭ o￭ carcin￭ oma ais previously called bron￭ chi￭ olo￭ al￭ ve￭ ol￭ ar carcin￭ oma b￭ ac is a term describing certain variants of lung cancer arising in the dis￭ tal bron￭ chi￭ oles or al￭ ve￭ oli that initially exhibit a specific non invasive growth pattern b￭ ac is a type of non small cell lung cancer n￭ s￭ cl￭ c ais is defined as a small ≤ 3 cm solitary tum￭ our with pure al￭ ve￭ ol￭ ar epi￭ the￭ li￭ al appearance le￭ pid￭ ic growth lacking any invasion of the inter￭ sti￭ tium if completely res￭ ected the prog￭ no￭ sis of sur￭ g￭ ically treated ais is 100
pan￭ coast tumor
a pan￭ coast tumor also called a pul￭ mon￭ ary sul￭ cus tumor or superior sul￭ cus tumor is a tumor of the pul￭ mon￭ ary ap￭ ex it is a type of lung cancer defined primarily by its location situated at the top end of either the right or left lung it typically spreads to nearby tissues such as the ribs and verte￭ bra￭ e most pan￭ coast tumors are non small cell cancers pan￭ coast tumors are named for henry pan￭ coast a us radio￭ logist who described them in 19￭ 24 and 19￭ 32
thy￭ mom￭ a
thy￭ mom￭ a is a tumor originating from the epi￭ the￭ li￭ al cells of the th￭ ym￭ us thy￭ mom￭ a is an un￭ common tumor best known for its association with the neuro￭ muscular disorder my￭ asth￭ enia grav￭ is thy￭ mom￭ a is found in 20 of patients with my￭ asth￭ enia grav￭ is once diagnosed thy￭ mom￭ as may be removed sur￭ g￭ ically in the rare case of a m￭ align￭ ant tumor chem￭ otherapy may be used
heart cancer
heart cancer is an extremely rare form of cancer that is divided into primary tumors of the heart and secondary tumors of the heart
giant cell tumor of bone
giant cell tumor of the bone g￭ c￭ to￭ b is a relatively un￭ common tumor of the bone it is characterized by the presence of multin￭ uc￭ le￭ ated giant cells o￭ ste￭ o￭ cl￭ ast like cells m￭ align￭ ancy in giant cell tumor is un￭ common and occurs in about 2 of all cases however if m￭ align￭ ant de￭ generation does occur it is likely to me￭ tast￭ asi￭ ze to the lungs giant cell tumors are normally benign with unpredictable behavior it is a heterogeneous tumor composed of three different cell populations the giant cell tum￭ our st￭ rom￭ al cells g￭ c￭ ts￭ c constitute the ne￭ op￭ l￭ astic cells which are from an o￭ ste￭ obl￭ astic origin and are classified based on expression of o￭ ste￭ o￭ blast cell mark￭ ers such as al￭ kal￭ ine phosp￭ hat￭ ase and o￭ ste￭ oc￭ al￭ cin in contrast the mon￭ on￭ uc￭ lear his￭ ti￭ oc￭ y￭ tic cells m￭ n￭ hc and multin￭ uc￭ le￭ ated giant cell m￭ ng￭ c
o￭ ste￭ os￭ ar￭ coma
ch￭ on￭ dro￭ bl￭ ast￭ oma
ch￭ on￭ dro￭ bl￭ ast￭ oma is a rare benign locally aggressive bone tumor that typically affects the ep￭ ip￭ hy￭ ses or apo￭ phy￭ ses of long bones it is thought to arise from an out￭ growth of immature car￭ til￭ age cells ch￭ on￭ dro￭ bl￭ asts from secondary os￭ sification centers originating from the ep￭ ip￭ hy￭ seal plate or some rem￭ nant of it
ch￭ on￭ dro￭ bl￭ ast￭ oma is a rare benign locally aggressive bone tumor that typically affects the ep￭ ip￭ hy￭ ses or apo￭ phy￭ ses of long bones it is thought to arise from an out￭ growth of immature car￭ til￭ age cells ch￭ on￭ dro￭ bl￭ asts from secondary os￭ sification centers originating from the ep￭ ip￭ hy￭ seal plate or some rem￭ nant of it ch￭ on￭ dro￭ bl￭ ast￭ oma is very un￭ common accounting for only 1 2 of all bone tumors it affects mostly children and young adults with most patients being in the second decade of life or less than 20 years of age ch￭ on￭ dro￭ bl￭ ast￭ oma shows a pre￭ dil￭ ection towards the male sex with a ratio of male to female patients of 2 1 the most commonly affected site is the fem￭ ur followed by the hum￭ er￭ us and ti￭ bia less commonly affected sites include the tal￭ us and cal￭ can￭ eus of the foot and flat bones
bone tumor
a bone tumor also spelled bone tum￭ our is a ne￭ op￭ l￭ astic growth of tissue in bone abnormal grow￭ ths found in the bone can be either benign non￭ can￭ cer￭ ous or m￭ align￭ ant can￭ cer￭ ous average five year survival in the united states after being diagnosed with bone and joint cancer is 67
e￭ wing s sar￭ coma
e￭ wing s sar￭ coma or e￭ wing sar￭ coma ˈ￭ ju￭ ː￭ ɪ￭ ŋ is a m￭ align￭ ant small round blue cell tumor it is a rare disease in which cancer cells are found in the bone or in soft tissue the most common areas in which it occurs are the pel￭ vis the fem￭ ur the hum￭ er￭ us the ribs and cla￭ vic￭ le collar bone e￭ wing s sar￭ coma occurs most frequently in teenagers and young adults with a male female ratio of 1 6 1 although usually classified as a bone tum￭ our e￭ wing s sar￭ coma can have characteristics of both mes￭ o￭ der￭ mal and ec￭ to￭ der￭ mal origin making it difficult to classify
e￭ wing s sar￭ coma or e￭ wing sar￭ coma ˈ￭ ju￭ ː￭ ɪ￭ ŋ is a m￭ align￭ ant small round blue cell tumor it is a rare disease in which cancer cells are found in the bone or in soft tissue the most common areas in which it occurs are the pel￭ vis the fem￭ ur the hum￭ er￭ us the ribs and cla￭ vic￭ le collar bone since a common genetic loc￭ us is responsible for a large percentage of e￭ wing s sar￭ coma and primitive neuro￭ ec￭ to￭ der￭ mal tumors these are sometimes grouped together in a category known as the e￭ wing family of tumors the diseases are however considered to be different peripheral primitive neuro￭ ec￭ to￭ der￭ mal tum￭ ours are generally not associated with bones while e￭ wing sar￭ com￭ as are most commonly related to bone e￭ wing s sar￭ coma occurs most frequently in teenagers and young adults with a male female ratio of 1 6 1 although usually classified as a bone tum￭ our e￭ wing s sar￭ coma can have characteristics of both mes￭ o￭ der￭ mal and ec￭ to￭ der￭ mal origin making it difficult to classify james e￭ wing 18￭ 66 – 19￭ 43 first described the tum￭ our establishing that the disease was separate from lymp￭ homa and other types of cancer known at that time
mel￭ anom￭ a
mel￭ anom￭ a also known as m￭ align￭ ant mel￭ anom￭ a is a type of cancer that develops from the pig￭ ment containing cells known as mel￭ an￭ oc￭ y￭ tes mel￭ anom￭ as typically occur in the skin but may rarely occur in the mouth intest￭ ines or eye in women they most commonly occur on the legs while in men they are most common on the back sometimes they develop from a mole with concerning changes including an increase in size irregular edges change in color it￭ chin￭ ess or skin breakdown
mel￭ anom￭ a also known as m￭ align￭ ant mel￭ anom￭ a is a type of cancer that develops from the pig￭ ment containing cells known as mel￭ an￭ oc￭ y￭ tes mel￭ anom￭ as typically occur in the skin but may rarely occur in the mouth intest￭ ines or eye in women they most commonly occur on the legs while in men they are most common on the back sometimes they develop from a mole with concerning changes including an increase in size irregular edges change in color it￭ chin￭ ess or skin breakdown the primary cause of mel￭ anom￭ a is ultra￭ violet light u￭ v exposure in those with low levels of skin pig￭ ment the u￭ v light may be from either the sun or from other sources such as tann￭ ing devices about 25 develop from mol￭ es those with many mol￭ es a history of affected family members and who have poor immune function are at greater risk a number of rare genetic defects such as x￭ ero￭ der￭ ma pi￭ gm￭ ent￭ o￭ sum also increase risk diagnosis is by biopsy of any concerning skin le￭ sion avoiding u￭ v light and the use of sun￭ screen may prevent mel￭ anom￭ a treatment is typically removal by surgery in those with slightly larger cancers nearby lymp￭ h no￭ des may be tested for spread most people are cured if spread has not occurred for those in whom mel￭ anom￭ a has spread immun￭ otherapy bio￭ logic therapy radiation therapy or chem￭ otherapy may improve survival with treatment the five year survival rates in the united states is 98 among those with loc￭ alized disease and 17 among those in whom spread has occurred the likelihood that it will come back or spread depends how thick the mel￭ anom￭ a is how fast the cells are dividing and whether or not the over￭ lying skin has broken down mel￭ anom￭ a is the most dangerous type of skin cancer globally in 2012 it occurred in 232 000 people and resulted in 55 000 deaths australia and new zealand have the highest rates of mel￭ anom￭ a in the world there are also high rates in europe and north america while it is less common in asia africa and latin america mel￭ anom￭ a is more common in men than women mel￭ anom￭ a has become more common since the 1960 s in areas that are mostly caucasian
skin cancer
skin cancers are cancers that arise from the skin they are due to the development of abnormal cells that have the ability to invade or spread to other parts of the body there are three main types bas￭ al cell skin cancer b￭ cc squ￭ am￭ ous cell skin cancer sc￭ c and mel￭ anom￭ a the first two together along with a number of less common skin cancers are known as non￭ mel￭ anom￭ a skin cancer n￭ m￭ sc bas￭ al cell cancer grows slowly and can damage the tissue around it but is unlikely to spread to distant areas or result in death it often appears as a pain￭ less raised area of skin that may be shiny with small blood vessel running over it or may present as a raised area with an ul￭ cer squ￭ am￭ ous cell cancer is more likely to spread it usually presents as a hard lump with a scal￭ y top but may also form an ul
squ￭ am￭ ous cell carcin￭ oma
squ￭ am￭ ous cell carcin￭ oma or squ￭ am￭ ous cell cancer sc￭ c or s￭ q￭ cc is a cancer of a kind of epi￭ the￭ li￭ al cell the squ￭ am￭ ous cell these cells are the main part of the ep￭ id￭ er￭ mis of the skin and this cancer is one of the major forms of skin cancer however squ￭ am￭ ous cells also occur in the lining of the dig￭ estive tract lungs and other areas of the body and sc￭ c occurs as a form of cancer in diverse tissues including the lips mouth es￭ op￭ ha￭ gus ur￭ inary blad￭ der pro￭ state lung vag￭ ina and cer￭ vi￭ x among others despite sharing the name squ￭ am￭ ous cell carcin￭ oma the sc￭ cs of different body sites can show tremendous differences in their presenting symptoms natural history prog￭ no￭ sis and response to treatment
bas￭ al cell carcin￭ oma
m￭ align￭ ant pilo￭ matri￭ coma
merkel cell carcin￭ oma
merkel cell carcin￭ oma mc￭ c is a rare and highly aggressive skin cancer which in most cases is caused by the merkel cell poly￭ om￭ avi￭ rus mc￭ v discovered by scientists at the university of pittsburgh in 2008 it is also known as cu￭ taneous ap￭ u￭ dom￭ a primary neuro￭ endocrine carcin￭ oma of the skin primary small cell carcin￭ oma of the skin and tr￭ ab￭ ec￭ ular carcin￭ oma of the skin merkel cell carcin￭ oma occurs most often on the sun exposed face head and neck
l￭ enti￭ go m￭ align￭ a
l￭ enti￭ go m￭ align￭ a also known as l￭ enti￭ gin￭ ous mel￭ anom￭ a on sun damaged skin is a mel￭ anom￭ a in situ that consists of m￭ align￭ ant cells but does not show invasive growth l￭ enti￭ go m￭ align￭ a is not the same as l￭ enti￭ go m￭ align￭ a mel￭ anom￭ a and should be discussed separately it typically progres￭ ses very slowly and can remain in a non invasive form for years the transition to true mel￭ anom￭ a is marked by the appearance of a bumpy surface itself a marker of vertical growth and invasion at which point it is called l￭ enti￭ go m￭ align￭ a mel￭ anom￭ a it is normally found in the elderly peak incidence in the 9 th decade on skin areas with high levels of sun exposure like the face and fore￭ arms some authors do not consider l￭ enti￭ go m￭ align￭ a to be a mel￭ anom￭ a it is commonly thought of as a mel￭ anom￭ a precursor inci￭ den￭ c
mar￭ jol￭ in s ul￭ cer
mar￭ jol￭ in s ul￭ cer refers to an aggressive ul￭ cer￭ ating squ￭ am￭ ous cell carcin￭ oma presenting in an area of previously traumati￭ zed chronically infl￭ amed or scar￭ red skin they are commonly present in the context of chronic wounds including burn injuries vari￭ cose ve￭ ins ven￭ ous ul￭ cers ul￭ cers from o￭ ste￭ om￭ ye￭ li￭ tis and post radi￭ otherapy scars the term was named after french surgeon jean nicolas mar￭ jol￭ in who first described the condition in 18￭ 28 the term was later coined by j c de costa
mes￭ o￭ the￭ li￭ oma
mes￭ o￭ the￭ li￭ oma is a type of cancer that develops from the thin layer of tissue that covers many of the internal organs known as the mes￭ o￭ the￭ lium the most common area affected is the lining of the lungs and chest wall less commonly the lining of the ab￭ dom￭ en and rarely the s￭ ac surrounding the heart or the s￭ ac surrounding the testi￭ s may be affected signs and symptoms of mes￭ o￭ the￭ li￭ oma may include short￭ ness of breath due to fluid around the lung a sw￭ oll￭ en ab￭ dom￭ en chest wall pain cough feeling tired and weight loss these symptoms typically come on slowly
ka￭ posi s sar￭ coma
ka￭ posi sar￭ coma ˈ￭ k￭ æ￭ p￭ ə￭ ʃ￭ i s￭ ɑ￭ ː￭ r￭ ˈ￭ ko￭ ʊ￭ m￭ ə ks is a tumor caused by infection with human her￭ pes￭ virus 8 h￭ h￭ v 8 also known as ka￭ posi sar￭ coma associated her￭ pes￭ virus k￭ sh￭ v or ks agent it was originally described by mor￭ itz ka￭ posi a hungarian der￭ mato￭ logist practicing at the university of vienna in 18￭ 72 it became more widely known as one of the aids defining illnesses in the 1980 s the viral cause for this cancer was discovered in 1994 although ks is now well established to be caused by a viral infection there is widespread lack of awareness of this even among persons at risk for k￭ sh￭ v h￭ h￭ v 8 infection
ka￭ posi sar￭ coma ˈ￭ k￭ æ￭ p￭ ə￭ ʃ￭ i s￭ ɑ￭ ː￭ r￭ ˈ￭ ko￭ ʊ￭ m￭ ə ks is a tumor caused by infection with human her￭ pes￭ virus 8 h￭ h￭ v 8 also known as ka￭ posi sar￭ coma associated her￭ pes￭ virus k￭ sh￭ v or ks agent it was originally described by mor￭ itz ka￭ posi a hungarian der￭ mato￭ logist practicing at the university of vienna in 18￭ 72 it became more widely known as one of the aids defining illnesses in the 1980 s the viral cause for this cancer was discovered in 1994 although ks is now well established to be caused by a viral infection there is widespread lack of awareness of this even among persons at risk for k￭ sh￭ v h￭ h￭ v 8 infection ka￭ posi sar￭ coma ks is a systemic disease that can present with cu￭ taneous le￭ sions with or without internal involvement four sub￭ types have been described classic ks affecting middle aged men of mediterranean descent african endemic ks ks in i￭ atro￭ gen￭ ically immun￭ o￭ suppressed patients and aids related ks the er￭ y￭ them￭ at￭ ous to viol￭ ac￭ eous cu￭ taneous le￭ sions seen in ks have several mor￭ pho￭ logies mac￭ ular patch pla￭ que no￭ d￭ ular and ex￭ op￭ hy￭ tic the cu￭ taneous le￭ sions can be solitary loc￭ alized or disseminated ks can involve the oral cav￭ ity lymp￭ h no￭ des and vis￭ cer￭ a classic ks tends to be ind￭ ol￭ ent presenting with er￭ y￭ them￭ at￭ ous or viol￭ ac￭ eous pat￭ ches on the lower extre￭ mi￭ ties african endemic ks and aids related ks tend to be more aggressive the aids related ks le￭ sions often rapidly progress to pl￭ aqu￭ es and no￭ d￭ ules affecting the upper trunk face and oral mu￭ co￭ sa the diagnosis can be made with a tissue biopsy and if clin￭ ically indicated internal imaging should be done once the diagnosis of ks has been made treatment is based on the subtype and the presence of loc￭ alized versus systemic disease loc￭ alized cu￭ taneous disease can be treated with cry￭ otherapy intr￭ ale￭ sional injections of vin￭ bl￭ ast￭ ine alit￭ re￭ tin￭ o￭ in gel radi￭ otherapy topical immun￭ otherapy im￭ i￭ qu￭ im￭ od or surgical exc￭ ision extensive cu￭ taneous disease and or internal disease may require intra￭ ven￭ ous chem￭ otherapy and immun￭ otherapy dis￭ continuation or reduction of immun￭ o￭ sup￭ pres￭ sive therapy is recommended when ks arises in the setting of i￭ atro￭ genic immun￭ o￭ suppression however with aids related ks highly active anti￭ retro￭ viral therapy ha￭ art has been shown to prevent or induce regression of ks some aids patients have complete resolution of the le￭ sions and prolonged remission while continuing the therapy therefore ha￭ art should be considered first line treatment for these patients though they may require other treatments at the same time
ple￭ om￭ orph￭ ic un￭ differentiated sar￭ coma
der￭ mato￭ fi￭ bro￭ sar￭ coma pro￭ tuber￭ ans
der￭ mato￭ fi￭ bro￭ sar￭ coma pro￭ tuber￭ ans d￭ f￭ sp is a very rare tumor it is a rare ne￭ op￭ las￭ m of the der￭ mis layer of the skin and is classified as a sar￭ coma there is only about one case per million per year d￭ f￭ sp is a fi￭ bro￭ sar￭ coma more precisely a cu￭ taneous soft tissue sar￭ coma in many respects the disease behaves as a benign tumor but in 2 – 5 of cases it can me￭ tast￭ asi￭ ze so it should be considered to have m￭ align￭ ant potential it occurs most often in adults in their thir￭ ties it has been described con￭ gen￭ it￭ ally in children and the elderly it accounts for approximately 2 – 6 of soft tissue sar￭ coma cancers
fi￭ bro￭ sar￭ coma
lei￭ om￭ y￭ os￭ ar￭ coma
lei￭ om￭ y￭ os￭ ar￭ coma gr smooth muscle connec￭ tive tissue tumor also referred to as l￭ ms is a m￭ align￭ ant can￭ cer￭ ous smooth muscle tumor it must not be confused with lei￭ om￭ y￭ oma which is a benign tumor originating from the same tissue it is also important to note that lei￭ om￭ y￭ os￭ ar￭ com￭ as do not arise from lei￭ om￭ y￭ om￭ as
r￭ hab￭ dom￭ y￭ os￭ ar￭ coma
r￭ hab￭ dom￭ y￭ os￭ ar￭ coma or r￭ ms is an aggressive and highly m￭ align￭ ant form of cancer that develops from sk￭ el￭ etal stri￭ ated muscle cells that have failed to fully differentiate it is generally considered to be a disease of childhood as the vast majority of cases occur in those below the age of 18 it is commonly described as one of the small round blue cell tum￭ ours of childhood due to its appearance on an h e stain despite being a relatively rare cancer it accounts for approximately 40 of all recorded soft tissue sar￭ com￭ as r￭ ms can occur in any site on the body but is primarily found in the head neck orbit gen￭ it￭ our￭ inary tract gen￭ itals and extre￭ mi￭ ties there are no clear risk factors for r￭ ms but the disease has been associated with some con￭ genital ab￭ norm￭ alities signs and symptoms
r￭ hab￭ dom￭ y￭ os￭ ar￭ coma or r￭ ms is an aggressive and highly m￭ align￭ ant form of cancer that develops from sk￭ el￭ etal stri￭ ated muscle cells that have failed to fully differentiate it is generally considered to be a disease of childhood as the vast majority of cases occur in those below the age of 18 it is commonly described as one of the small round blue cell tum￭ ours of childhood due to its appearance on an h e stain despite being a relatively rare cancer it accounts for approximately 40 of all recorded soft tissue sar￭ com￭ as r￭ ms can occur in any site on the body but is primarily found in the head neck orbit gen￭ it￭ our￭ inary tract gen￭ itals and extre￭ mi￭ ties there are no clear risk factors for r￭ ms but the disease has been associated with some con￭ genital ab￭ norm￭ alities signs and symptoms vary according to tumor site and prog￭ no￭ sis is closely tied to the location of the primary tumor common site of me￭ tast￭ asis include the lungs bone marrow and bones there are many classification systems for r￭ ms and a variety of defined his￭ to￭ logical types embry￭ onal r￭ hab￭ dom￭ y￭ os￭ ar￭ coma is the most common type and comprises about 60 of cases patient outcomes vary considerably with 5 years survival rates between 35 and 95 depending on the type of r￭ ms involved so clear diagnosis is critical for effective treatment and management unfortunately accurate and quick diagnosis is often difficult due to the hetero￭ geneity of r￭ ms tumors and a lack of strong genetic mark￭ ers of the disease treatment usually involves a combination of surgery chem￭ otherapy and radiation sixty percent to 70 of newly diagnosed patients with non￭ me￭ ta￭ static disease can be cured using this combined approach to therapy despite aggressive multi￭ modality treatment less than 20 of patients with me￭ ta￭ static r￭ ms are able to be cured of their disease
pag￭ et s disease of the breast
breast cancer
breast cancer is cancer that develops from breast tissue signs of breast cancer may include a lump in the breast a change in breast shape dim￭ pling of the skin fluid coming from the nip￭ ple or a red scal￭ y patch of skin in those with distant spread of the disease there may be bone pain sw￭ oll￭ en lymp￭ h no￭ des short￭ ness of breath or yellow skin
breast cancer is cancer that develops from breast tissue signs of breast cancer may include a lump in the breast a change in breast shape dim￭ pling of the skin fluid coming from the nip￭ ple or a red scal￭ y patch of skin in those with distant spread of the disease there may be bone pain sw￭ oll￭ en lymp￭ h no￭ des short￭ ness of breath or yellow skin risk factors for developing breast cancer include being female obesity lack of physical exercise drinking alcohol hormone replacement therapy during men￭ op￭ ause ionizing radiation early age at first men￭ str￭ uation having children late or not at all older age and family history about 5 – 10 of cases are due to genes inherited from a person s parents including brca 1 and brca 2 among others breast cancer most commonly develops in cells from the lining of milk duc￭ ts and the lob￭ ules that supply the duc￭ ts with milk cancers developing from the duc￭ ts are known as duc￭ tal carcin￭ om￭ as while those developing from lob￭ ules are known as lob￭ ular carcin￭ om￭ as in addition there are more than 18 other sub types of breast cancer some cancers such as duc￭ tal carcin￭ oma in situ develop from pre invasive le￭ sions the diagnosis of breast cancer is confirmed by taking a biopsy of the concerning lump once the diagnosis is made further tests are done to determine if the cancer has spread beyond the breast and which treatments it may respond to the balance of benefits versus harms of breast cancer screening is controversial a 2013 co￭ ch￭ rane review stated that it is unclear if mammo￭ graphic screening does more good or harm a 2009 review for the us preventive services task force found evidence of benefit in those 40 to 70 years of age and the organization recommends screening every two years in women 50 to 74 years old the medications tam￭ ox￭ if￭ en or r￭ alo￭ x￭ if￭ ene may be used in an effort to prevent breast cancer in those who are at high risk of developing it surgical removal of both breasts is another preventative measure in some high risk women in those who have been diagnosed with cancer a number of treatments may be used including surgery radiation therapy chem￭ otherapy hormonal therapy and targeted therapy types of surgery vary from breast conserving surgery to ma￭ stec￭ tomy breast reconstruction may take place at the time of surgery or at a later date in those in whom the cancer has spread to other parts of the body treatments are mostly aimed at improving quality of life and comfort outcomes for breast cancer vary depending on the cancer type extent of disease and person s age survival rates in the developed world are high with between 80 and 90 of those in england and the united states alive for at least 5 years in developing countries survival rates are poorer worldwide breast cancer is the leading type of cancer in women accounting for 25 of all cases in 2012 it resulted in 1 68 million cases and 522 000 deaths it is more common in developed countries and is more than 100 times more common in women than in men
ph￭ yl￭ lo￭ des tumor
vag￭ inal cancer
cer￭ vic￭ al cancer
cer￭ vic￭ al cancer is a cancer arising from the cer￭ vi￭ x it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body early on typically no symptoms are seen later symptoms may include abnormal vag￭ inal bleeding pel￭ vic pain or pain during sexual inter￭ course while bleeding after sex may not be serious it may also indicate the presence of cer￭ vic￭ al cancer
cer￭ vic￭ al cancer is a cancer arising from the cer￭ vi￭ x it is due to the abnormal growth of cells that have the ability to invade or spread to other parts of the body early on typically no symptoms are seen later symptoms may include abnormal vag￭ inal bleeding pel￭ vic pain or pain during sexual inter￭ course while bleeding after sex may not be serious it may also indicate the presence of cer￭ vic￭ al cancer human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v infection appears to be involved in the development of more than 90 of cases most people who have had h￭ p￭ v infections however do not develop cer￭ vic￭ al cancer other risk factors include smoking a weak immune system birth control pills starting sex at a young age and having many sexual partners but these are less important cer￭ vic￭ al cancer typically develops from pre￭ can￭ cer￭ ous changes over 10 to 20 years about 90 of cer￭ vic￭ al cancer cases are squ￭ am￭ ous cell carcin￭ om￭ as 10 are aden￭ o￭ carcin￭ oma and a small number are other types diagnosis is typically by cer￭ vic￭ al screening followed by a biopsy medical imaging is then done to determine whether or not the cancer has spread h￭ p￭ v vaccines protect against between two and seven high risk strains of this family of viruses and may prevent up to 90 of cer￭ vic￭ al cancers as a risk of cancer still exists guidelines recommend continuing regular p￭ ap sme￭ ars other methods of prevention include having few or no sexual partners and the use of condoms cer￭ vic￭ al cancer screening using the p￭ ap sme￭ ar or acetic acid can identify pre￭ can￭ cer￭ ous changes which when treated can prevent the development of cancer treatment of cer￭ vic￭ al cancer may consist of some combination of surgery chem￭ otherapy and radi￭ otherapy five year survival rates in the united states are 68 outcomes however depend very much on how early the cancer is detected worldwide cer￭ vic￭ al cancer is both the fourth most common cause of cancer and the fourth most common cause of death from cancer in women in 2012 an estimated 528 000 cases of cer￭ vic￭ al cancer occurred with 266 000 deaths this is about 8 of the total cases and total deaths from cancer about 70 of cer￭ vic￭ al cancers occur in developing countries in low income countries it is the most common cause of cancer death in developed countries the widespread use of cer￭ vic￭ al screening programs has dramatically reduced rates of cer￭ vic￭ al cancer in medical research the most famous cell line known as hel￭ a was developed from cer￭ vic￭ al cancer cells of a woman named hen￭ ri￭ etta lacks
end￭ ome￭ trial cancer
end￭ ome￭ trial cancer is a cancer that arises from the end￭ ome￭ tri￭ um the lining of the uter￭ us or wom￭ b it is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body the first sign is most often vag￭ inal bleeding not associated with a men￭ str￭ ual period other symptoms include pain with ur￭ ination or sexual inter￭ course or pel￭ vic pain end￭ ome￭ trial cancer occurs most commonly after men￭ op￭ ause
o￭ vari￭ an cancer
o￭ vari￭ an cancer is a cancer that forms in an o￭ vary it results in abnormal cells that have the ability to invade or spread to other parts of the body when this process begins there may be no or only vague symptoms symptoms become more noticeable as the cancer progres￭ ses these symptoms may include blo￭ ating pel￭ vic pain ab￭ domin￭ al sw￭ elling and loss of appetite among others common areas to which the cancer may spread include the lining of the ab￭ dom￭ en lining of the bo￭ wel and blad￭ der lymp￭ h no￭ des lungs and liver
kru￭ ken￭ berg tumor
gran￭ ul￭ osa cell tum￭ our
gran￭ ul￭ osa cell tum￭ ours or gran￭ ul￭ osa th￭ eca cell tum￭ ours are tum￭ ours that arise from gran￭ ul￭ osa cells these tum￭ ours are part of the sex cord gon￭ ad￭ al st￭ rom￭ al tum￭ our or non epi￭ the￭ li￭ al group of tum￭ ours although gran￭ ul￭ osa cells normally occur only in the o￭ vary gran￭ ul￭ osa cell tum￭ ours occur in both ov￭ aries and tes￭ tic￭ les see o￭ vari￭ an cancer and tes￭ tic￭ ular cancer these tum￭ ours should be considered m￭ align￭ ant and treated in the same way as other m￭ align￭ ant tum￭ ours of o￭ vary the o￭ vari￭ an disease has two forms juvenile and adult both characterized by ind￭ ol￭ ent growth and therefore has high recovery rates the staging system for these tum￭ ours is the same as for epi￭ the￭ li￭ al tum￭ ours and most present as stage i the peak age at which they occur is 50 – 55 years but they may occur at any age
germ cell tumor
a germ cell tumor g￭ ct is a ne￭ op￭ las￭ m derived from germ cells germ cell tumors can be can￭ cer￭ ous or non can￭ cer￭ ous tumors germ cells normally occur inside the gon￭ ads o￭ vary and testi￭ s germ cell tumors that originate outside the gon￭ ads may be birth defects resulting from errors during development of the embryo
ch￭ ori￭ o￭ carcin￭ oma
ch￭ ori￭ o￭ carcin￭ oma is a m￭ align￭ ant tro￭ pho￭ bl￭ astic cancer usually of the plac￭ enta it is characterized by early hem￭ ato￭ genous spread to the lungs it belongs to the m￭ align￭ ant end of the spectrum in gest￭ ational tro￭ pho￭ bl￭ astic disease g￭ td it is also classified as a germ cell tumor and may arise in the testi￭ s or o￭ vary
pen￭ ile cancer
pen￭ ile cancer is a m￭ align￭ ant growth found on the skin or in the tissues of the penis around 95 of pen￭ ile cancers are squ￭ am￭ ous cell carcin￭ om￭ as other types of pen￭ ile cancer such as merkel cell carcin￭ oma small cell carcin￭ oma mel￭ anom￭ a and other are generally rare
pro￭ state cancer
pro￭ state cancer also known as carcin￭ oma of the pro￭ state is the development of cancer in the pro￭ state a g￭ land in the male reproductive system most pro￭ state cancers are slow growing however some grow relatively quickly the cancer cells may spread from the pro￭ state to other parts of the body particularly the bones and lymp￭ h no￭ des it may initially cause no symptoms in later stages it can lead to difficulty ur￭ inating blood in the urine or pain in the pel￭ vis back or when ur￭ inating a disease known as benign pro￭ static hyper￭ pl￭ asia may produce similar symptoms other late symptoms may include feeling tired due to low levels of red blood cells
pro￭ state cancer also known as carcin￭ oma of the pro￭ state is the development of cancer in the pro￭ state a g￭ land in the male reproductive system most pro￭ state cancers are slow growing however some grow relatively quickly the cancer cells may spread from the pro￭ state to other parts of the body particularly the bones and lymp￭ h no￭ des it may initially cause no symptoms in later stages it can lead to difficulty ur￭ inating blood in the urine or pain in the pel￭ vis back or when ur￭ inating a disease known as benign pro￭ static hyper￭ pl￭ asia may produce similar symptoms other late symptoms may include feeling tired due to low levels of red blood cells factors that increase the risk of pro￭ state cancer include older age a family history of the disease and race about 99 of cases occur in those over the age of 50 having a first degree relative with the disease increases the risk two to threefold in the united states it is more common in the african american population than the white american population other factors that may be involved include a diet high in processed meat red meat or milk products or low in certain vegetables an association with gon￭ or￭ rhe￭ a has been found but a reason for this relationship has not been identified pro￭ state cancer is diagnosed by biopsy medical imaging may then be done to determine if the cancer has spread to other parts of the body pro￭ state cancer screening is controversial pro￭ state specific antigen p￭ sa testing increases cancer detection but does not decrease mortality the united states preventive services task force recommends against screening using the p￭ sa test due to the risk of over￭ diagnosis and over￭ treatment as most cancer diagnosed would remain as￭ ymp￭ tomatic the us￭ p￭ st￭ f concludes that the potential benefits of testing do not outweigh the expected harms while 5 α reduc￭ t￭ ase inhi￭ bit￭ ors appear to decrease low grade cancer risk they do not affect high grade cancer risk and thus are not recommended for prevention supplem￭ entation with vitamins or minerals does not appear to affect the risk many cases can be safely followed with active surveillance or watchful waiting other treatments may include a combination of surgery radiation therapy hormone therapy or chem￭ otherapy when it only occurs inside the pro￭ state it may be cur￭ able in those in whom the disease has spread to the bones pain medications bis￭ phosp￭ hon￭ ates and targeted therapy among others may be useful outcomes depend on a person s age and other health problems as well as how aggressive and extensive the cancer is most people with pro￭ state cancer do not end up dying from the disease the 5 year survival rate in the united states is 99 globally it is the second most common type of cancer and the fifth leading cause of cancer related death in men in 2012 it occurred in 1 1 million men and caused 307 000 deaths it was the most common cancer in males in 84 countries occurring more commonly in the developed world rates have been increasing in the developing world detection increased significantly in the 1980 s and 1990 s in many areas due to increased p￭ sa testing studies of males who died from unrelated causes have found pro￭ state cancer in 30 to 70 of those over age 60
tes￭ tic￭ ular cancer
tes￭ tic￭ ular cancer is cancer that develops in the tes￭ tic￭ les a part of the male reproductive system not all lum￭ ps on the tes￭ tic￭ les are tumors and not all tumors are cancer there are many other conditions such as tes￭ tic￭ ular micro￭ li￭ thi￭ asis epi￭ di￭ dy￭ mal cy￭ sts and appendix testi￭ s hy￭ d￭ ati￭ d of mor￭ g￭ ag￭ ni which may be painful but are non can￭ cer￭ ous tes￭ tic￭ ular cancer cry￭ p￭ tor￭ chi￭ dis￭ m hypo￭ sp￭ adi￭ as and poor semen quality make up the syndrome known as tes￭ tic￭ ular dys￭ genesis syndrome
semin￭ oma
semin￭ oma also known as pure semin￭ oma or classical semin￭ oma is a germ cell tumor of the tes￭ tic￭ le or more rarely the medi￭ ast￭ inum or other extra gon￭ ad￭ al locations it is a m￭ align￭ ant ne￭ op￭ las￭ m and is one of the most treat￭ able and cur￭ able cancers with a survival rate above 95 if discovered in early stages tes￭ tic￭ ular semin￭ oma originates in the germin￭ al epi￭ the￭ lium of the sem￭ ini￭ fer￭ ous tu￭ bul￭ es about half of germ cell tumors of the tes￭ tic￭ les are semin￭ om￭ as treatment usually requires removal of one tes￭ tic￭ le however fertility usually isn t affected all other sexual functions will remain intact
ter￭ atom￭ a
a ter￭ atom￭ a is a tumor with tissue or organ components resembling normal derivatives of more than one germ layer although the ter￭ atom￭ a may be mono￭ der￭ mal or poly￭ der￭ mal originating from one or more germ layers its cells may differentiate in ways suggesting other germ layers the tissues of a ter￭ atom￭ a although normal in themselves may be quite different from surrounding tissues and may be highly disparate ter￭ atom￭ as have been reported to contain hair teeth bone and very rarely more complex organs or processes such as eyes tor￭ so and hands feet or other limbs
a ter￭ atom￭ a is a tumor with tissue or organ components resembling normal derivatives of more than one germ layer although the ter￭ atom￭ a may be mono￭ der￭ mal or poly￭ der￭ mal originating from one or more germ layers its cells may differentiate in ways suggesting other germ layers the tissues of a ter￭ atom￭ a although normal in themselves may be quite different from surrounding tissues and may be highly disparate ter￭ atom￭ as have been reported to contain hair teeth bone and very rarely more complex organs or processes such as eyes tor￭ so and hands feet or other limbs usually a ter￭ atom￭ a will contain no organs but rather one or more tissues normally found in organs such as the brain thyro￭ id liver and lung sometimes the ter￭ atom￭ a has within its cap￭ su￭ le one or more fluid filled cy￭ sts when a large cyst occurs there is a potential for the ter￭ atom￭ a to produce a structure within the cyst that resembles a fe￭ tus because they are en￭ capsul￭ ated ter￭ atom￭ as are usually benign although several forms of m￭ align￭ ant ter￭ atom￭ a are known and some of these are common forms of ter￭ atom￭ a a mature ter￭ atom￭ a is typically benign and found more commonly in women while an immature ter￭ atom￭ a is typically m￭ align￭ ant and is more often found in men ter￭ atom￭ as are thought to be present at birth con￭ genital but small ones often remain undis￭ covered until much later in life definitive medical diagnosis of a ter￭ atom￭ a is based on its his￭ to￭ logy
wil￭ ms tumor
wil￭ ms tumor also known as ne￭ ph￭ ro￭ bl￭ ast￭ oma is a cancer of the kidneys that typically occurs in children rarely in adults it is named after dr max wil￭ ms the german surgeon 18￭ 67 – 1918 who first described it approximately 500 cases are diagnosed in the u s annually the majority 75 occur in otherwise normal children a minority 25 are associated with other developmental ab￭ norm￭ alities it is highly responsive to treatment with about 90 of patients surviving at least five years
ren￭ al cell carcin￭ oma
ren￭ al cell carcin￭ oma r￭ cc is a kidney cancer that originates in the lining of the proxim￭ al con￭ volu￭ ted tu￭ bu￭ le a part of the very small tubes in the kidney that transport waste molecules from the blood to the urine r￭ cc is the most common type of kidney cancer in adults responsible for approximately 90 – 95 of cases
ren￭ al cell carcin￭ oma r￭ cc is a kidney cancer that originates in the lining of the proxim￭ al con￭ volu￭ ted tu￭ bu￭ le a part of the very small tubes in the kidney that transport waste molecules from the blood to the urine r￭ cc is the most common type of kidney cancer in adults responsible for approximately 90 – 95 of cases initial treatment is most commonly either partial or complete removal of the affected kidney s where the cancer has not me￭ tast￭ as￭ ised spread to other organs or bur￭ ro￭ wed deeper into the tissues of the kidney the 5 year survival rate is 65 – 90 but this is lowered considerably when the cancer has spread the body is remarkably good at hiding the symptoms and as a result people with r￭ cc often have advanced disease by the time it is discovered the initial symptoms of r￭ cc often include blood in the urine occurring in 40 of affected persons at the time they first seek medical attention flank pain 40 a mass in the ab￭ dom￭ en or flank 25 weight loss 33 fever 20 high blood pressure 20 night swe￭ ats and generally feeling un￭ well when r￭ cc me￭ tast￭ as￭ ises it most commonly spreads to the lymp￭ h no￭ des lungs liver adren￭ al g￭ lands brain or bones immun￭ otherapy and targeted therapy have improved the outlook for me￭ ta￭ static r￭ cc r￭ cc is also associated with a number of par￭ ane￭ op￭ l￭ astic syndro￭ mes p￭ ns which are conditions caused by either the hormones produced by the tum￭ our or by the body s attack on the tum￭ our and are present in about 20 of those with r￭ cc these syndro￭ mes most commonly affect tissues which have not been invaded by the cancer the most common p￭ n￭ ss seen in people with r￭ cc are high blood calcium levels poly￭ cy￭ th￭ aemia the opposite of ana￭ emia due to an overproduction of er￭ y￭ thro￭ po￭ ie￭ tin thro￭ m￭ bo￭ cy￭ to￭ sis too many plat￭ el￭ ets in the blood leading to an increased tendency for blood clo￭ tting and ble￭ eds and secondary amy￭ lo￭ ido￭ sis
blad￭ der cancer
blad￭ der cancer is any of several types of cancer arising from the epi￭ the￭ li￭ al lining i e the u￭ ro￭ the￭ lium of the ur￭ inary blad￭ der rarely the blad￭ der is involved by non epi￭ the￭ li￭ al cancers such as lymp￭ homa or sar￭ coma but these are not ordinarily included in the col￭ lo￭ qu￭ ial term blad￭ der cancer it is a disease in which abnormal cells multiply without control in the blad￭ der blad￭ der cancer is the 9 th leading cause of cancer with 430 000 new cases and 165 000 deaths occurring in 2012
u￭ veal mel￭ anom￭ a
re￭ tin￭ obl￭ ast￭ oma
men￭ ing￭ i￭ oma
men￭ ing￭ i￭ om￭ as are a diverse set of tumors arising from the men￭ inges the memb￭ ran￭ ous layers surrounding the central nervous system many men￭ ing￭ i￭ om￭ as produce no symptoms throughout a person s life and if discovered require no treatment other than periodic observation typically symptomatic men￭ ing￭ i￭ om￭ as are treated with either radio￭ surgery or conventional surgery
atypical ter￭ ato￭ id r￭ hab￭ do￭ id tumor
atypical ter￭ ato￭ id r￭ hab￭ do￭ id tumor at rt is a rare tumor usually diagnosed in childhood although usually a brain tumor at rt can occur anywhere in the central nervous system cns including the spinal cord about 60 will be in the poster￭ ior cran￭ ial fo￭ ssa particularly the cere￭ bell￭ um one review estimated 52 poster￭ ior fo￭ ssa 39 sp￭ net supr￭ at￭ ent￭ orial primitive neuro￭ ec￭ to￭ der￭ mal tumors 5 pine￭ al 2 spinal and 2 multi focal current research is focusing on using chem￭ otherapy protocols that are effective against r￭ hab￭ dom￭ y￭ os￭ ar￭ coma in combination with surgery and radiation therapy
gli￭ oma
a gli￭ oma is a type of tumor that starts in the brain or sp￭ ine it is called a gli￭ oma because it arises from gli￭ al cells the most common site of gli￭ om￭ as is the brain gli￭ om￭ as make up about 30 of all brain and central nervous system tumors and 80 of all m￭ align￭ ant brain tumors
pi￭ loc￭ y￭ tic astro￭ cy￭ tom￭ a
pi￭ loc￭ y￭ tic astro￭ cy￭ tom￭ a or juvenile pi￭ loc￭ y￭ tic astro￭ cy￭ tom￭ a or c￭ ys￭ tic cere￭ bell￭ ar astro￭ cy￭ tom￭ a and its variant juvenile pilo￭ my￭ x￭ o￭ id astro￭ cy￭ tom￭ a is a brain tumor that occurs more often in children and young adults in the first 20 years of life they usually arise in the cere￭ bell￭ um near the bra￭ inst￭ em in the hypo￭ thal￭ am￭ ic region or the op￭ tic chi￭ asm but they may occur in any area where astro￭ cy￭ tes are present including the cere￭ br￭ al hemis￭ ph￭ er￭ es and the spinal cord these tumors are usually slow growing and benign the ne￭ op￭ las￭ ms are associated with the formation of a single or multiple cyst s and can become very large
astro￭ cy￭ tom￭ a
astro￭ cy￭ tom￭ as are a type of cancer of the brain they originate in a particular kind of gli￭ al cells star shaped brain cells in the cere￭ bru￭ m called astro￭ cy￭ tes this type of tumor does not usually spread outside the brain and spinal cord and it does not usually affect other organs astro￭ cy￭ tom￭ as are the most common gli￭ oma and can occur in most parts of the brain and occasionally in the spinal cord within the astro￭ cy￭ tom￭ as there are two broad classes recognized in literature those with
ep￭ end￭ y￭ mom￭ a
ep￭ end￭ y￭ mom￭ a is a tumor that arises from the ep￭ end￭ y￭ ma a tissue of the central nervous system usually in pedi￭ atric cases the location is in￭ trac￭ ran￭ ial while in adults it is spinal the common location of in￭ trac￭ ran￭ ial ep￭ end￭ y￭ mom￭ a is the fourth ven￭ tric￭ le rarely ep￭ end￭ y￭ mom￭ a can occur in the pel￭ vic cav￭ ity syr￭ ing￭ om￭ ye￭ lia can be caused by an ep￭ end￭ y￭ mom￭ a ep￭ end￭ y￭ mom￭ as are also seen with neuro￭ fi￭ bro￭ mat￭ osis type ii
gli￭ obl￭ ast￭ oma multi￭ forme
gli￭ obl￭ ast￭ oma multi￭ forme g￭ bm also known as gli￭ obl￭ ast￭ oma and grade iv astro￭ cy￭ tom￭ a is the most common and most aggressive cancer that begins within the brain signs and symptoms are initially non specific they may include headaches personality changes naus￭ ea and symptoms similar to those of a stroke worsening of symptoms is often rapid this can progress to un￭ consciousness
gli￭ obl￭ ast￭ oma multi￭ forme g￭ bm also known as gli￭ obl￭ ast￭ oma and grade iv astro￭ cy￭ tom￭ a is the most common and most aggressive cancer that begins within the brain signs and symptoms are initially non specific they may include headaches personality changes naus￭ ea and symptoms similar to those of a stroke worsening of symptoms is often rapid this can progress to un￭ consciousness the cause of most cases is unclear un￭ common risk factors include genetic disorders such as neuro￭ fi￭ bro￭ mat￭ osis and li frau￭ men￭ i syndrome and previous radiation therapy gli￭ obl￭ ast￭ om￭ as represent 15 of brain tumors they can either start from normal brain cells or develop from an already existing low grade astro￭ cy￭ tom￭ a the diagnosis is typically made by a combination of ct scan m￭ ri scan and tissue biopsy there is no clear way to prevent the disease typically treatment involves surgery after which chem￭ otherapy and radiation therapy are used the medication tem￭ o￭ zo￭ lo￭ mi￭ de is frequently used as part of chem￭ otherapy high dose ster￭ oids may be used to help reduce sw￭ elling and decrease symptoms it is unclear whether trying to remove all or simply most of the cancer is better despite maximum treatment the cancer usually rec￭ urs the most common length of survival following diagnosis is 12 to 15 months with less than 3 to 5 of people surviving longer than five years without treatment survival is typically 3 months about 3 per 100 000 people develop the disease a year it most often begins around 64 years of age and occurs more commonly in males than females immun￭ otherapy is being studied in gli￭ obl￭ ast￭ oma with promising results
oli￭ god￭ end￭ rog￭ li￭ oma
oli￭ god￭ end￭ rog￭ li￭ om￭ as are a type of gli￭ oma that are believed to originate from the oli￭ god￭ end￭ ro￭ cy￭ tes of the brain or from a gli￭ al precursor cell they occur primarily in adults 9 4 of all primary brain and central nervous system tumors but are also found in children 4 of all primary brain tumors the average age at diagnosis is 35 years
chor￭ o￭ id plex￭ us pap￭ il￭ lo￭ ma
chor￭ o￭ id plex￭ us pap￭ il￭ lo￭ ma also known as pap￭ il￭ lo￭ ma of chor￭ o￭ id plex￭ us is a rare benign neuro￭ epi￭ the￭ li￭ al intra￭ ven￭ tric￭ ular who grade i le￭ sion found in the chor￭ o￭ id plex￭ us it leads to increased cere￭ bro￭ spinal fluid production thus causing increased in￭ trac￭ ran￭ ial pressure and hydro￭ cephal￭ us
chor￭ o￭ id plex￭ us pap￭ il￭ lo￭ ma also known as pap￭ il￭ lo￭ ma of chor￭ o￭ id plex￭ us is a rare benign neuro￭ epi￭ the￭ li￭ al intra￭ ven￭ tric￭ ular who grade i le￭ sion found in the chor￭ o￭ id plex￭ us it leads to increased cere￭ bro￭ spinal fluid production thus causing increased in￭ trac￭ ran￭ ial pressure and hydro￭ cephal￭ us chor￭ o￭ id plex￭ us pap￭ il￭ lo￭ ma occurs in the lateral ven￭ tric￭ les of children and in the fourth ven￭ tric￭ le of adults this is unlike most other pedi￭ atric tumors and adult tumors in which the locations of the tumors is reversed in children brain tumors are usually found in the infr￭ at￭ ent￭ orial region and in adults brain tumors are usually found in the supr￭ at￭ ent￭ orial space the relationship is reversed for chor￭ o￭ id plex￭ us pap￭ il￭ lom￭ as
sch￭ wan￭ no￭ ma
a sch￭ wan￭ no￭ ma also known as an ne￭ ur￭ il￭ em￭ oma neuro￭ ma neuro￭ lem￭ oma and schw￭ ann cell tumor is a benign nerve she￭ ath tumor composed of schw￭ ann cells which normally produce the insulating my￭ elin she￭ ath covering peripheral nerves sch￭ wan￭ no￭ mas can be associated with neuro￭ fi￭ bro￭ mat￭ osis type ii which may be due to a loss of function mutation in the protein merlin they are universally s 100 positive which is a marker for cells of ne￭ ural c￭ rest cell origin ver￭ oc￭ ay bodies are seen his￭ to￭ logically in sch￭ wan￭ no￭ mas
a sch￭ wan￭ no￭ ma also known as an ne￭ ur￭ il￭ em￭ oma neuro￭ ma neuro￭ lem￭ oma and schw￭ ann cell tumor is a benign nerve she￭ ath tumor composed of schw￭ ann cells which normally produce the insulating my￭ elin she￭ ath covering peripheral nerves sch￭ wan￭ no￭ mas are homogeneous tumors consisting only of schw￭ ann cells the tumor cells always stay on the outside of the nerve but the tumor itself may either push the nerve aside and or up against a bon￭ y structure thereby possibly causing damage sch￭ wan￭ no￭ mas are relatively slow growing for reasons not yet understood sch￭ wan￭ no￭ mas are mostly benign and less than 1 become m￭ align￭ ant de￭ generating into a form of cancer known as neuro￭ fi￭ bro￭ sar￭ coma these masses are generally contained within a cap￭ su￭ le and so surgical removal is often successful sch￭ wan￭ no￭ mas can be associated with neuro￭ fi￭ bro￭ mat￭ osis type ii which may be due to a loss of function mutation in the protein merlin they are universally s 100 positive which is a marker for cells of ne￭ ural c￭ rest cell origin sch￭ wan￭ no￭ mas of the head and neck are a fairly common occurrence and can be found incidentally in 3 4 of patients at autopsy most common of these is a vesti￭ bul￭ ar sch￭ wan￭ no￭ ma a tumor of the vesti￭ bul￭ o￭ co￭ ch￭ lear nerve that may lead to tin￭ nit￭ us and hearing loss on the affected side outside the cran￭ ial nerves sch￭ wan￭ no￭ mas may present on the fl￭ ex￭ or surfaces of the limbs rare occurrences of these tumors in the penis have been documented in the literature ver￭ oc￭ ay bodies are seen his￭ to￭ logically in sch￭ wan￭ no￭ mas
thyro￭ id cancer
thyro￭ id cancer is a cancer originating from fol￭ lic￭ ular or par￭ af￭ ol￭ lic￭ ular thyro￭ id cells these cells give rise to both well differentiated cancers — pap￭ ill￭ ary thyro￭ id cancer pt￭ c and fol￭ lic￭ ular thyro￭ id cancer f￭ tc — and an￭ ap￭ l￭ astic thyro￭ id cancer at￭ c whose an￭ ap￭ l￭ astic cells are poorly differentiated the second cell type the c or par￭ af￭ ol￭ lic￭ ular cell produces the hormone cal￭ cit￭ on￭ in and is the cell of origin for med￭ ul￭ l￭ ary thyro￭ id cancer m￭ tc
ad￭ re￭ no￭ cor￭ tical carcin￭ oma
ad￭ re￭ no￭ cor￭ tical carcin￭ oma also adren￭ al cor￭ tical carcin￭ oma acc and adren￭ al cor￭ tex cancer is an aggressive cancer originating in the cor￭ tex ster￭ o￭ id hormone producing tissue of the adren￭ al g￭ land ad￭ re￭ no￭ cor￭ tical carcin￭ oma is a rare tumor with incidence of 1 – 2 per million population annually ad￭ re￭ no￭ cor￭ tical carcin￭ oma has a b￭ im￭ od￭ al distribution by age with cases clu￭ stering in children under 5 and in adults 30 – 40 years old ad￭ re￭ no￭ cor￭ tical carcin￭ oma is remarkable for the many hormonal syndro￭ mes which can occur in patients with ster￭ o￭ id hormone producing functional tumors including cu￭ shing s syndrome con￭ n syndrome vi￭ ri￭ li￭ zation and fem￭ ini￭ zation ad￭ re￭ no￭ cor￭ tical carcin￭ oma has often invaded nearby tissues or me￭ tast￭ asi￭ zed to distant organs at the time of diagnosis and the overall 5 year
neuro￭ bl￭ ast￭ oma
neuro￭ bl￭ ast￭ oma nb is the most common ex￭ trac￭ ran￭ ial solid cancer in childhood and the most common cancer in infancy with an incidence of about 650 cases per year in the u s and 100 cases per year in the uk nearly half of neuro￭ bl￭ ast￭ oma cases occur in children younger than two years it is a neuro￭ endocrine tumor arising from any ne￭ ural c￭ rest element of the sympathetic nervous system s￭ ns it most frequently originates in one of the adren￭ al g￭ lands but can also develop in nerve tissues in the neck chest ab￭ dom￭ en or pel￭ vis
carcin￭ o￭ id
carcin￭ o￭ id also carcin￭ o￭ id tumor is a slow growing type of neuro￭ endocrine tumor originating in the cells of the neuro￭ endocrine system in some cases me￭ tast￭ asis may occur carcin￭ o￭ id tumors of the mid￭ gut je￭ jun￭ um i￭ leum appendix and cec￭ um are associated with carcin￭ o￭ id syndrome
pine￭ alo￭ bl￭ ast￭ oma
pine￭ obl￭ ast￭ oma also pine￭ alo￭ bl￭ ast￭ oma is a m￭ align￭ ant tumor of the pine￭ al g￭ land a pine￭ obl￭ ast￭ oma is a supr￭ at￭ ent￭ orial mid￭ line primitive neuro￭ ec￭ to￭ der￭ mal tumor pine￭ obl￭ ast￭ oma may occur in patients with hereditary uni or bilateral re￭ tin￭ obl￭ ast￭ oma when re￭ tin￭ obl￭ ast￭ oma patients present with pine￭ obl￭ ast￭ oma this is characterized as trilateral re￭ tin￭ obl￭ ast￭ oma up to 5 of patients with hereditary re￭ tin￭ obl￭ ast￭ oma are at risk of developing trilateral re￭ tin￭ obl￭ ast￭ oma prog￭ no￭ sis of patients with trilateral re￭ tin￭ obl￭ ast￭ oma is dismal only a few patients have survived more than 5 years after diagnosis all survivors were diagnosed with small tumors in a sub￭ clinical stage recent advances in high dose chem￭ otherapy treatment regim￭ ens and early detection have improved survival of patients with trilateral re￭ tin
pine￭ obl￭ ast￭ oma also pine￭ alo￭ bl￭ ast￭ oma is a m￭ align￭ ant tumor of the pine￭ al g￭ land a pine￭ obl￭ ast￭ oma is a supr￭ at￭ ent￭ orial mid￭ line primitive neuro￭ ec￭ to￭ der￭ mal tumor pine￭ obl￭ ast￭ oma may occur in patients with hereditary uni or bilateral re￭ tin￭ obl￭ ast￭ oma when re￭ tin￭ obl￭ ast￭ oma patients present with pine￭ obl￭ ast￭ oma this is characterized as trilateral re￭ tin￭ obl￭ ast￭ oma up to 5 of patients with hereditary re￭ tin￭ obl￭ ast￭ oma are at risk of developing trilateral re￭ tin￭ obl￭ ast￭ oma prog￭ no￭ sis of patients with trilateral re￭ tin￭ obl￭ ast￭ oma is dismal only a few patients have survived more than 5 years after diagnosis all survivors were diagnosed with small tumors in a sub￭ clinical stage recent advances in high dose chem￭ otherapy treatment regim￭ ens and early detection have improved survival of patients with trilateral re￭ tin￭ obl￭ ast￭ oma to up to 50
parag￭ ang￭ li￭ oma
a parag￭ ang￭ li￭ oma is a rare neuro￭ endocrine ne￭ op￭ las￭ m that may develop at various body sites including the head neck thor￭ ax and ab￭ dom￭ en about 97 are benign and cured by surgical removal the remaining 3 are m￭ align￭ ant because they are able to produce distant me￭ tast￭ ases parag￭ ang￭ li￭ oma is now the most widely accepted term for these le￭ sions that have been also described as g￭ lom￭ us tumor chem￭ o￭ dec￭ tom￭ a peri￭ the￭ li￭ oma fi￭ bro￭ an￭ gi￭ oma and sympathetic ne￭ vi
pseu￭ dom￭ y￭ x￭ oma per￭ it￭ one￭ i
pseu￭ dom￭ y￭ x￭ oma per￭ it￭ one￭ i p￭ mp is a clinical condition caused by can￭ cer￭ ous cells m￭ uc￭ inous aden￭ o￭ carcin￭ oma that produce abundant m￭ uc￭ in or gelat￭ inous as￭ cites the tumors cause fi￭ bro￭ sis of tissues and impede dig￭ estion or organ function and if left untreated the tumors and m￭ uc￭ in they produce will fill the ab￭ domin￭ al cav￭ ity this will result in compression of organs and will destroy the function of col￭ on small intest￭ ine stomach or other organs prog￭ no￭ sis with treatment in many cases is optimistic but the disease is lethal if untreated with death by c￭ ach￭ ex￭ ia bo￭ wel obstruction or other types of complications
pseu￭ dom￭ y￭ x￭ oma per￭ it￭ one￭ i p￭ mp is a clinical condition caused by can￭ cer￭ ous cells m￭ uc￭ inous aden￭ o￭ carcin￭ oma that produce abundant m￭ uc￭ in or gelat￭ inous as￭ cites the tumors cause fi￭ bro￭ sis of tissues and impede dig￭ estion or organ function and if left untreated the tumors and m￭ uc￭ in they produce will fill the ab￭ domin￭ al cav￭ ity this will result in compression of organs and will destroy the function of col￭ on small intest￭ ine stomach or other organs prog￭ no￭ sis with treatment in many cases is optimistic but the disease is lethal if untreated with death by c￭ ach￭ ex￭ ia bo￭ wel obstruction or other types of complications this disease is most commonly caused by an append￭ ice￭ al primary cancer cancer of the appendix m￭ uc￭ inous tumors of the o￭ vary have also been implicated although in most cases o￭ vari￭ an involvement is favored to be a me￭ tast￭ asis from an append￭ ice￭ al or other gastro￭ intest￭ inal source disease is typically classified as low or high grade with sig￭ net ring cells when disease presents with low grade his￭ to￭ logic features the cancer rarely spreads through the lymp￭ h￭ atic system or through the blood￭ stream
cancer of unknown primary origin
cancer of unknown primary origin cup oc￭ cult cancer is a term used to describe a cancer that is determined to be at the me￭ ta￭ static stage at the time of diagnosis but a primary tumor cannot be identified a diagnosis of cup requires a clinical picture consistent with me￭ ta￭ static disease and one or more biopsy results inconsistent with a primary tumor
ho￭ dg￭ kin s lymp￭ homa
ho￭ dg￭ kin s lymp￭ homa hl is a type of lymp￭ homa which is generally believed to result from white blood cells of the lymp￭ ho￭ cy￭ te kind symptoms may include fever night swe￭ ats and weight loss often there will be non painful enlarged lymp￭ h no￭ des in the neck under the arm or in the gro￭ in those affected may feel tired or be it￭ chy
ho￭ dg￭ kin s lymp￭ homa hl is a type of lymp￭ homa which is generally believed to result from white blood cells of the lymp￭ ho￭ cy￭ te kind symptoms may include fever night swe￭ ats and weight loss often there will be non painful enlarged lymp￭ h no￭ des in the neck under the arm or in the gro￭ in those affected may feel tired or be it￭ chy about half of cases of ho￭ dg￭ kin s lymp￭ homa are due to ep￭ stein – bar￭ r virus eb￭ v other risk factors include a family history of the condition and having hiv aids there are two major types of ho￭ dg￭ kin lymp￭ homa classical ho￭ dg￭ kin lymp￭ homa and no￭ d￭ ular lymp￭ ho￭ cy￭ te predominant ho￭ dg￭ kin lymp￭ homa diagnosis is by finding ho￭ dg￭ kin s cells such as multin￭ uc￭ le￭ ated reed – ster￭ n￭ berg cells rs cells in lymp￭ h no￭ des ho￭ dg￭ kin lymp￭ homa may be treated with chem￭ otherapy radiation therapy and stem cell transplant the choice of treatment often depends on how advanced the cancer is and whether or not it has favorable features in early disease a cure is often possible the percentage of people who survive five years in the united states is 86 for those under the age of 20 rates of survival are 97 radiation and some chem￭ otherapy drugs however increase the risk of other cancers heart disease or lung disease over the subsequent decades in 2013 about 725 000 people had ho￭ dg￭ kin s lymp￭ homa and 24 000 died in the united states 0 2 of people are affected at some point in their life the most common age of diagnosis is between 20 and 40 years old it was named after the english physician thomas ho￭ dg￭ kin who first described the condition in 18￭ 32
lymp￭ homa
lymp￭ homa is a group of blood cell tumors that develop from lymp￭ ho￭ cy￭ tes a type of white blood cell the name often refers to just the can￭ cer￭ ous ones rather than all such tumors signs and symptoms may include enlarged lymp￭ h no￭ des fever d￭ ren￭ ching swe￭ ats unintended weight loss it￭ ching and feeling tired the enlarged lymp￭ h no￭ des are usually pain￭ less the swe￭ ats are most common at night
fol￭ lic￭ ular lymp￭ homa
fol￭ lic￭ ular lymp￭ homa is a type of blood cancer it is the most common of the ind￭ ol￭ ent slow growing non ho￭ dg￭ kin s lymp￭ hom￭ as and the second most common form of non ho￭ dg￭ kin s lymp￭ hom￭ as overall it is defined as a lymp￭ homa of fol￭ lic￭ le center b cells cent￭ ro￭ cy￭ tes and cent￭ ro￭ bl￭ asts which has at least a partially fol￭ lic￭ ular pattern it is positive for the b cell mark￭ ers cd 10 cd 19 cd 22 and usually cd 20 but almost always negative for cd 5
non ho￭ dg￭ kin lymp￭ homa
non ho￭ dg￭ kin lymp￭ homa n￭ hl is a group of blood cancers that includes all types of lymp￭ homa except ho￭ dg￭ kin s lymp￭ hom￭ as symptoms include enlarged lymp￭ h no￭ des fever night swe￭ ats weight loss and feeling tired other symptoms may include bone pain chest pain or it￭ chin￭ ess some forms are slow growing while others are fast growing
non ho￭ dg￭ kin lymp￭ homa n￭ hl is a group of blood cancers that includes all types of lymp￭ homa except ho￭ dg￭ kin s lymp￭ hom￭ as symptoms include enlarged lymp￭ h no￭ des fever night swe￭ ats weight loss and feeling tired other symptoms may include bone pain chest pain or it￭ chin￭ ess some forms are slow growing while others are fast growing lymp￭ hom￭ as are types of cancer that develops from lymp￭ ho￭ cy￭ tes a type of white blood cell risk factors include poor immune function auto￭ immune diseases heli￭ co￭ bac￭ ter p￭ yl￭ ori infection hepatitis c obesity and ep￭ stein bar￭ r virus infection the world health organization who classi￭ fies lymp￭ hom￭ as into five major groups including one for ho￭ dg￭ kin s lymp￭ homa within the four groups for n￭ hl there are over 60 specific types of lymp￭ homa diagnosis is by examination of a bone marrow or lymp￭ h no￭ de biopsy medical imaging is done to help with cancer staging treatment depends on if the lymp￭ homa is slow or fast growing and if it is in one area or many areas treatments may include chem￭ otherapy radiation immun￭ otherapy targeted therapy stem cell transplantation surgery or watchful waiting if the blood becomes overly thick due to antibodies plas￭ map￭ her￭ esis may be used radiation and some chem￭ otherapy however increase the risk of other cancers heart disease or nerve problems over the subsequent decades in 2013 about 2 96 million people had non ho￭ dg￭ kin lymp￭ homa and 226 000 died in the united states 2 1 of people are affected at some point in their life the most common age of diagnosis is between 65 to 75 years old the percentage of people who survive five years in the united states is 71
adult t cell leuk￭ emia lymp￭ homa
adult t cell leuk￭ emia lymp￭ homa at￭ l or at￭ ll is a rare cancer of the immune system s own t cells human t cell leuk￭ emia lymp￭ ho￭ tropic virus type 1 ht￭ lv 1 is believed to be the cause of it in addition to several other diseases
diffuse large b cell lymp￭ homa
diffuse large b cell lymp￭ homa dl￭ b￭ cl or dl￭ bl is a cancer of b cells a type of white blood cell responsible for producing antibodies it is the most common type of non ho￭ dg￭ kin lymp￭ homa among adults with an annual incidence of 7 – 8 cases per 100 000 people per year this cancer occurs primarily in older individuals with a median age of diagnosis at approximately 70 years of age though it can also occur in children and young adults in rare cases dl￭ b￭ cl is an aggressive tumor which can arise in virtually any part of the body and the first sign of this illness is typically the observation of a rapidly growing mass sometimes associated with fever weight loss and night swe￭ ats
bur￭ kit￭ t s lymp￭ homa
my￭ co￭ sis fun￭ go￭ ides
sé￭ z￭ ary disease
an￭ ap￭ l￭ astic large cell lymp￭ homa
an￭ ap￭ l￭ astic large cell lymp￭ homa al￭ cl is a type of non ho￭ dg￭ kin lymp￭ homa involving aberr￭ ant t cells it is described in detail in the classification of tumors of the hem￭ ato￭ po￭ ie￭ tic and lymp￭ ho￭ id tissues ed￭ ited by experts of the world health organisation who the term an￭ ap￭ l￭ astic large cell lymp￭ homa al￭ cl encompasses at least 4 different clinical entities all sharing the same name and his￭ to￭ logically have also in common the presence of large ple￭ om￭ orph￭ ic cells that express cd 30 and t cell mark￭ ers two types of al￭ cl present as systemic disease and are considered as aggressive lymp￭ hom￭ as while two types present as loc￭ alized disease and may progress locally
man￭ tle cell lymp￭ homa
wal￭ den￭ ström s macro￭ glob￭ ul￭ in￭ emia
wal￭ den￭ ström s macro￭ glob￭ ul￭ in￭ emia w￭ m also known as lymp￭ hop￭ las￭ mac￭ y￭ tic lymp￭ homa is a type of cancer affecting b cells a type of white blood cell the main attribu￭ ting anti￭ body is immun￭ o￭ glob￭ ulin m ig￭ m w￭ m is an ind￭ ol￭ ent lymp￭ homa i e one that tends to grow and spread slowly it is a type of lymp￭ ho￭ prolifer￭ ative disease which shares clinical characteristics with the ind￭ ol￭ ent non ho￭ dg￭ kin lymp￭ hom￭ as
wal￭ den￭ ström s macro￭ glob￭ ul￭ in￭ emia w￭ m also known as lymp￭ hop￭ las￭ mac￭ y￭ tic lymp￭ homa is a type of cancer affecting b cells a type of white blood cell the main attribu￭ ting anti￭ body is immun￭ o￭ glob￭ ulin m ig￭ m w￭ m is an ind￭ ol￭ ent lymp￭ homa i e one that tends to grow and spread slowly it is a type of lymp￭ ho￭ prolifer￭ ative disease which shares clinical characteristics with the ind￭ ol￭ ent non ho￭ dg￭ kin lymp￭ hom￭ as the disease named after the swedish on￭ co￭ logist jan g wal￭ den￭ ström was first identified in 1944 as with other lymp￭ hom￭ as it is characterized by an uncontrolled increase of b cells white blood cells formed in the bone marrow and lymp￭ h no￭ des the proliferation of b cells interferes with the production of red blood cells resulting in an￭ emia a unique characteristic of the disease is that the b cells produce excess amounts of immun￭ o￭ glob￭ ulin thick￭ ening the blood and requiring additional treatment w￭ m is a rare disease with only about 1 500 cases per year in the united states while the disease is incur￭ able it is treat￭ able because of its ind￭ ol￭ ent nature many patients are able to lead active lives and when treatment is required may experience years of symptom free remission
malt lymp￭ homa
malt lymp￭ homa mal￭ tom￭ a is a form of lymp￭ homa involving the mu￭ co￭ sa associated lymp￭ ho￭ id tissue malt frequently of the stomach but virtually any mu￭ cos￭ al site can be afflicted it is a cancer originating from b cells in the marginal zone of the malt and is also called ex￭ tran￭ od￭ al marginal zone b cell lymp￭ homa
multiple my￭ el￭ oma
multiple my￭ el￭ oma also known as plasma cell my￭ el￭ oma is a cancer of plasma cells a type of white blood cell normally responsible for producing antibodies initially there are often no symptoms when advanced bone pain bleeding frequent infections and an￭ emia may occur complications may include amy￭ lo￭ ido￭ sis multiple my￭ el￭ oma is considered treat￭ able but generally incur￭ able re￭ missions may be brought about with ster￭ oids chem￭ otherapy th￭ ali￭ dom￭ ide or len￭ ali￭ dom￭ ide and stem cell transplant bis￭ phosp￭ hon￭ ates and radiation therapy are sometimes used to reduce pain from bone le￭ sions
multiple my￭ el￭ oma also known as plasma cell my￭ el￭ oma is a cancer of plasma cells a type of white blood cell normally responsible for producing antibodies initially there are often no symptoms when advanced bone pain bleeding frequent infections and an￭ emia may occur complications may include amy￭ lo￭ ido￭ sis the cause is generally unknown risk factors include drinking alcohol and obesity the underlying mechanism involves abnormal plasma cells producing abnormal antibodies which can cause kidney problems and overly thick blood the plasma cells can also form a mass in the bone marrow or soft tissue when there is only one mass it is known as a plas￭ mac￭ y￭ tom￭ a and when there is more than one it is known as multiple my￭ el￭ oma multiple my￭ el￭ oma is diagnosed based on blood or urine tests finding abnormal antibodies bone marrow biopsy finding can￭ cer￭ ous plasma cells and medical imaging finding bone le￭ sions another common finding is high blood calcium levels multiple my￭ el￭ oma is considered treat￭ able but generally incur￭ able re￭ missions may be brought about with ster￭ oids chem￭ otherapy th￭ ali￭ dom￭ ide or len￭ ali￭ dom￭ ide and stem cell transplant bis￭ phosp￭ hon￭ ates and radiation therapy are sometimes used to reduce pain from bone le￭ sions multiple my￭ el￭ oma affected about 427 000 people in 2013 and resulted in 79 000 deaths in the united states it develops in 6 5 per 100 000 people per year and 0 7 of people are affected at some point in their life it usually occurs around the age of 61 and is more common in men than women without treatment typical survival is seven months with current treatments survival is usually 4 – 5 years this gives a five year survival rate of about 49 the word my￭ el￭ oma is from the greek my￭ elo meaning marrow and oma meaning tumor
leuk￭ emia
leuk￭ emia also spelled leuk￭ aemia is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells these white blood cells are not fully developed and are called bl￭ asts or leuk￭ emia cells symptoms may include bleeding and bru￭ ising problems feeling tired fever and an increased risk of infections these symptoms occur due to a lack of normal blood cells diagnosis is typically made by blood tests or bone marrow biopsy
leuk￭ emia also spelled leuk￭ aemia is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells these white blood cells are not fully developed and are called bl￭ asts or leuk￭ emia cells symptoms may include bleeding and bru￭ ising problems feeling tired fever and an increased risk of infections these symptoms occur due to a lack of normal blood cells diagnosis is typically made by blood tests or bone marrow biopsy the exact cause of leuk￭ emia is unknown different kinds of leuk￭ emia are believed to have different causes both inherited and environmental non inherited factors are believed to be involved risk factors include smoking ionizing radiation some chemicals such as benzene prior chem￭ otherapy and down syndrome people with a family history of leuk￭ emia are also at higher risk there are four main types of leuk￭ emia — acute lymp￭ ho￭ bl￭ astic leuk￭ emia all acute my￭ elo￭ id leuk￭ emia am￭ l chronic lymp￭ ho￭ cy￭ tic leuk￭ emia c￭ ll and chronic my￭ elo￭ id leuk￭ emia c￭ ml — as well as a number of less common types leuk￭ emi￭ as and lymp￭ hom￭ as both belong to a broader group of tumors that affect the blood bone marrow and lymp￭ ho￭ id system known as tumors of the hem￭ ato￭ po￭ ie￭ tic and lymp￭ ho￭ id tissues treatment may involve some combination of chem￭ otherapy radiation therapy targeted therapy and bone marrow transplant in addition to supportive care and palliative care as needed certain types of leuk￭ emia may be managed with watchful waiting the success of treatment depends on the type of leuk￭ emia and the age of the person outcomes have improved in the developed world the average five year survival rate is 57 in the united states in children under 15 the five year survival rate is greater than 60 to 85 depending on the type of leuk￭ emia in children with acute leuk￭ emia who are cancer free after five years the cancer is unlikely to return in 2012 leuk￭ emia developed in 352 000 people globally and caused 265 000 deaths it is the most common type of cancer in children with three quarters of leuk￭ emia cases in children being the acute lymp￭ ho￭ bl￭ astic type however about 90 of all leuk￭ emi￭ as are diagnosed in adults with am￭ l and c￭ ll being most common in adults it occurs more commonly in the developed world
acute lymp￭ ho￭ bl￭ astic leuk￭ emia
acute lymp￭ ho￭ bl￭ astic leuk￭ emia also known as acute lymp￭ ho￭ cy￭ tic leuk￭ emia or acute lymp￭ ho￭ id leuk￭ emia all is an acute form of leuk￭ emia or cancer of the white blood cells characterized by the overproduction and accumulation of can￭ cer￭ ous immature white blood cells known as lymp￭ ho￭ bl￭ asts in persons with all lymp￭ ho￭ bl￭ asts are over￭ produced in the bone marrow and continuously multiply causing damage and death by inhi￭ biting the production of normal cells such as red and white blood cells and plat￭ el￭ ets in the bone marrow and by spreading infiltr￭ ating to other organs all is most common in childhood with a peak incidence at 2 – 5 years of age and another peak in old age
acute lymp￭ ho￭ bl￭ astic leuk￭ emia also known as acute lymp￭ ho￭ cy￭ tic leuk￭ emia or acute lymp￭ ho￭ id leuk￭ emia all is an acute form of leuk￭ emia or cancer of the white blood cells characterized by the overproduction and accumulation of can￭ cer￭ ous immature white blood cells known as lymp￭ ho￭ bl￭ asts in persons with all lymp￭ ho￭ bl￭ asts are over￭ produced in the bone marrow and continuously multiply causing damage and death by inhi￭ biting the production of normal cells such as red and white blood cells and plat￭ el￭ ets in the bone marrow and by spreading infiltr￭ ating to other organs all is most common in childhood with a peak incidence at 2 – 5 years of age and another peak in old age the symptoms of all are indicative of a reduced production of functional blood cells because leuk￭ emia wastes the resources of the bone marrow that are normally used to produce new functioning blood cells these symptoms can include fever increased risk of infection especially bacterial infections like pneumonia due to neu￭ tro￭ pen￭ ia symptoms of such an infection include short￭ ness of breath chest pain cough v￭ om￭ iting changes in bo￭ wel or blad￭ der habits increased tendency to bleed due to thro￭ m￭ bo￭ cy￭ top￭ enia and signs indicative of an￭ emia including p￭ all￭ or t￭ ach￭ y￭ car￭ dia high heart rate fatigue and headache about 6 000 cases are reported in the united states every year internationally all is more common in cauca￭ sians than in africans it is more common in his￭ panics and in latin america cure is a realistic goal and is achieved in more than 80 of affected children although only 20 40 of adults are cured acute refers to the relatively short time course of the disease distinguishing it from chronic lymp￭ ho￭ cy￭ tic leuk￭ emia which has a potential time course of many years all was one of the first cancers for which an effective chem￭ other￭ apeu￭ tic treatment was developed anti￭ fol￭ ates like amin￭ op￭ ter￭ in and meth￭ o￭ tre￭ x￭ ate were developed in the late 1940 s by sid￭ ney far￭ ber and y￭ ell￭ ap￭ rag￭ ada sub￭ bar￭ ow at that time a doctor did not need a patient s or parent s consent to try an experimental treatment as the nuremberg code had not yet been signed desperate to save his patients far￭ ber initially tried fol￭ ic acid supplem￭ entation as a treatment for all this had disastrous consequences and he likely accelerated the children s deaths
b cell chronic lymp￭ ho￭ cy￭ tic leuk￭ emia
b cell chronic lymp￭ ho￭ cy￭ tic leuk￭ emia b c￭ ll also known as chronic lymp￭ ho￭ id leuk￭ emia c￭ ll is the most common type of leuk￭ emia a type of cancer of the white blood cells in adults c￭ ll affects b cell lymp￭ ho￭ cy￭ tes which originate in the bone marrow develop in the lymp￭ h no￭ des and normally fight infection by producing antibodies c￭ ll is a disease of adults most 75 people newly diagnosed with c￭ ll are over the age of 50 and the majority are men however in rare cases it can occur in teenagers and occasionally in children some of these may relate to an inherited pre￭ disposition
b cell chronic lymp￭ ho￭ cy￭ tic leuk￭ emia b c￭ ll also known as chronic lymp￭ ho￭ id leuk￭ emia c￭ ll is the most common type of leuk￭ emia a type of cancer of the white blood cells in adults c￭ ll affects b cell lymp￭ ho￭ cy￭ tes which originate in the bone marrow develop in the lymp￭ h no￭ des and normally fight infection by producing antibodies in c￭ ll b cells grow in an uncontrolled manner and accumulate in the bone marrow and blood where they crowd out healthy blood cells c￭ ll is a stage of small lymp￭ ho￭ cy￭ tic lymp￭ homa s￭ ll a type of b cell lymp￭ homa which presents primarily in the lymp￭ h no￭ des c￭ ll and s￭ ll are considered the same underlying disease just with different appearances c￭ ll is a disease of adults most 75 people newly diagnosed with c￭ ll are over the age of 50 and the majority are men however in rare cases it can occur in teenagers and occasionally in children some of these may relate to an inherited pre￭ disposition most people are diagnosed without symptoms as the result of a routine blood test that returns a high white blood cell count but as it advances c￭ ll results in sw￭ oll￭ en lymp￭ h no￭ des sp￭ leen and liver and eventually an￭ emia and infections early c￭ ll is not treated and late c￭ ll is treated with chem￭ otherapy and mono￭ cl￭ onal antibodies dna analysis has distinguished two major types of c￭ ll with different survival times c￭ ll that is positive for the marker z￭ ap 70 has an average survival of 8 years while c￭ ll negative for z￭ ap 70 has an average survival of more than 25 years many patients especially older ones with slowly progressing disease can be reassured and may not need any treatment in their life￭ times
ha￭ iry cell leuk￭ emia
ha￭ iry cell leuk￭ emia is an un￭ common hem￭ at￭ ological m￭ align￭ ancy characterized by an accumulation of abnormal b lymp￭ ho￭ cy￭ tes it is usually classified as a sub type of chronic lymp￭ ho￭ id leuk￭ emia ha￭ iry cell leuk￭ emia makes up approximately 2 of all leuk￭ emi￭ as with fewer than 2 000 new cases diagnosed annually in north america and western europe combined
acute my￭ elo￭ id leuk￭ emia
acute my￭ elo￭ id leuk￭ emia am￭ l also known as acute my￭ elo￭ genous leuk￭ emia or acute non￭ lymp￭ ho￭ cy￭ tic leuk￭ emia an￭ ll is a cancer of the my￭ elo￭ id line of blood cells characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells am￭ l is the most common acute leuk￭ emia affecting adults and its incidence increases with age although am￭ l is a relatively rare disease accounting for roughly 1 2 of cancer deaths in the united states its incidence is expected to increase as the population ages
chronic my￭ elo￭ genous leuk￭ emia
chronic my￭ elo￭ genous or my￭ elo￭ id or my￭ el￭ oc￭ y￭ tic leuk￭ emia c￭ ml also known as chronic gran￭ ul￭ oc￭ y￭ tic leuk￭ emia c￭ g￭ l is a cancer of the white blood cells it is a form of leuk￭ emia characterized by the increased and unregulated growth of predominantly my￭ elo￭ id cells in the bone marrow and the accumulation of these cells in the blood c￭ ml is a cl￭ onal bone marrow stem cell disorder in which a proliferation of mature gran￭ ul￭ oc￭ y￭ tes neu￭ troph￭ ils e￭ o￭ sin￭ oph￭ ils and bas￭ oph￭ ils and their precursors is found it is a type of my￭ elo￭ prolifer￭ ative disease associated with a characteristic chro￭ mo￭ som￭ al trans￭ location called the philadelphia chro￭ mo￭ some c￭ ml is now largely treated with targeted drugs called ty￭ ros￭ ine kin￭ ase inhi￭ bit￭ ors t￭ kis which have led to dramatically improved long term survival rates since the i
chronic my￭ elo￭ genous or my￭ elo￭ id or my￭ el￭ oc￭ y￭ tic leuk￭ emia c￭ ml also known as chronic gran￭ ul￭ oc￭ y￭ tic leuk￭ emia c￭ g￭ l is a cancer of the white blood cells it is a form of leuk￭ emia characterized by the increased and unregulated growth of predominantly my￭ elo￭ id cells in the bone marrow and the accumulation of these cells in the blood c￭ ml is a cl￭ onal bone marrow stem cell disorder in which a proliferation of mature gran￭ ul￭ oc￭ y￭ tes neu￭ troph￭ ils e￭ o￭ sin￭ oph￭ ils and bas￭ oph￭ ils and their precursors is found it is a type of my￭ elo￭ prolifer￭ ative disease associated with a characteristic chro￭ mo￭ som￭ al trans￭ location called the philadelphia chro￭ mo￭ some c￭ ml is now largely treated with targeted drugs called ty￭ ros￭ ine kin￭ ase inhi￭ bit￭ ors t￭ kis which have led to dramatically improved long term survival rates since the introduction of the first such agent in 2001 these drugs have revolution￭ ized treatment of this disease and allow most patients to have a good quality of life when compared to the former chem￭ otherapy drugs in western countries c￭ ml accounts for 15 20 of all adult leuk￭ emi￭ as and 14 of leuk￭ emi￭ as overall including the pedi￭ atric population
philadelphia chro￭ mo￭ some
the philadelphia chro￭ mo￭ some or philadelphia trans￭ location is a specific genetic ab￭ normality in chro￭ mo￭ some 22 of leuk￭ emia cancer cells particularly chronic my￭ elo￭ genous leuk￭ emia c￭ ml cells this chro￭ mo￭ some is defective and unusually short because of reciprocal trans￭ location of genetic material between chro￭ mo￭ some 9 and chro￭ mo￭ some 22 and contains a fusion gene called b￭ cr abl 1 this gene is the abl 1 gene of chro￭ mo￭ some 9 ju￭ x￭ ta￭ posed onto the b￭ cr gene of chro￭ mo￭ some 22 coding for a hybrid protein a ty￭ ros￭ ine kin￭ ase signalling protein that is always on causing the cell to divide un￭ controll￭ ably
the philadelphia chro￭ mo￭ some or philadelphia trans￭ location is a specific genetic ab￭ normality in chro￭ mo￭ some 22 of leuk￭ emia cancer cells particularly chronic my￭ elo￭ genous leuk￭ emia c￭ ml cells this chro￭ mo￭ some is defective and unusually short because of reciprocal trans￭ location of genetic material between chro￭ mo￭ some 9 and chro￭ mo￭ some 22 and contains a fusion gene called b￭ cr abl 1 this gene is the abl 1 gene of chro￭ mo￭ some 9 ju￭ x￭ ta￭ posed onto the b￭ cr gene of chro￭ mo￭ some 22 coding for a hybrid protein a ty￭ ros￭ ine kin￭ ase signalling protein that is always on causing the cell to divide un￭ controll￭ ably the presence of this trans￭ location is a highly sensitive test for c￭ ml since 95 of people with c￭ ml have this ab￭ normality the remainder have either a cry￭ ptic trans￭ location that is invisible on g ban￭ ded chro￭ mo￭ some preparations or a variant trans￭ location involving another chro￭ mo￭ some or chro￭ mo￭ som￭ es as well as the long arm of chro￭ mo￭ som￭ es 9 and 22 however the presence of the philadelphia ph chro￭ mo￭ some is not sufficiently specific to diagnose c￭ ml since it is also found in acute lymp￭ ho￭ bl￭ astic leuk￭ emia all 25 – 30 in adult and 2 – 10 in pedi￭ atric cases and occasionally in acute my￭ elo￭ genous leuk￭ emia am￭ l
acute pro￭ my￭ el￭ oc￭ y￭ tic leuk￭ emia
acute pro￭ my￭ el￭ oc￭ y￭ tic leuk￭ emia ap￭ ml ap￭ l is the m 3 subtype of acute my￭ elo￭ genous leuk￭ emia am￭ l a cancer of the white blood cells in ap￭ l there is an abnormal accumulation of immature gran￭ ul￭ oc￭ y￭ tes called pro￭ my￭ el￭ oc￭ y￭ tes the disease is characterized by a chro￭ mo￭ som￭ al trans￭ location involving the re￭ tin￭ o￭ ic acid recep￭ tor alpha r￭ ar￭ α or r￭ ara gene and is distinguished from other forms of am￭ l by its responsiveness to all trans re￭ tin￭ o￭ ic acid atra also known as tre￭ tin￭ o￭ in therapy acute pro￭ my￭ el￭ oc￭ y￭ tic leuk￭ emia was first characterized in 1957 by french and norwegian physicians as a hyper￭ acute fatal illness with a median survival time of less than a week today prog￭ noses have drastically improved 10 year survival rates are estimated to be approximately 77 according to one study
juvenile my￭ el￭ om￭ on￭ oc￭ y￭ tic leuk￭ emia
juvenile my￭ el￭ om￭ on￭ oc￭ y￭ tic leuk￭ emia j￭ m￭ ml is a serious chronic leuk￭ emia cancer of the blood that affects children mostly aged 4 and younger the name j￭ m￭ ml now encompasses all diagnoses formerly referred to as juvenile chronic my￭ elo￭ id leuk￭ emia j￭ c￭ ml chronic my￭ el￭ om￭ on￭ oc￭ y￭ tic leuk￭ emia of infancy and inf￭ anti￭ le mono￭ som￭ y 7 syndrome the average age of patients at diagnosis is 2 years old the world health organization has included j￭ m￭ ml in the category of my￭ el￭ odys￭ plastic and my￭ elo￭ prolifer￭ ative disorders
my￭ elo￭ fi￭ bro￭ sis
my￭ elo￭ fi￭ bro￭ sis also known as o￭ ste￭ om￭ yel￭ o￭ fi￭ bro￭ sis is a relatively rare bone marrow cancer it is currently classified as a my￭ elo￭ prolifer￭ ative ne￭ op￭ las￭ m in which the proliferation of an abnormal clone of hem￭ ato￭ po￭ ie￭ tic stem cells in the bone marrow and other sites results in fi￭ bro￭ sis or the replacement of the marrow with scar tissue
m￭ align￭ ant his￭ ti￭ oc￭ y￭ to￭ sis
m￭ align￭ ant his￭ ti￭ oc￭ y￭ to￭ sis also known as his￭ ti￭ oc￭ y￭ tic med￭ ul￭ l￭ ary re￭ ticul￭ osis is a rare hereditary disease found in the bern￭ ese mountain dog and humans characterized by his￭ ti￭ oc￭ y￭ tic infiltr￭ ation of the lungs and lymp￭ h no￭ des the liver sp￭ leen and central nervous system can also be affected his￭ ti￭ oc￭ y￭ tes are a component of the immune system that prolifer￭ ate abnormally in this disease in addition to its importance in veterinary medicine the condition is also important in human path￭ ology
er￭ d￭ heim – chester disease
er￭ d￭ heim – chester disease also known as er￭ d￭ heim – chester syndrome or poly￭ o￭ sto￭ tic s￭ cl￭ ero￭ sing his￭ ti￭ oc￭ y￭ to￭ sis is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called his￭ ti￭ oc￭ y￭ tes or tissue macro￭ p￭ ha￭ ges technically this disease is termed a non lang￭ er￭ hans cell his￭ ti￭ oc￭ y￭ to￭ sis usually onset is in middle age the disease involves an infiltr￭ ation of lip￭ id laden macro￭ p￭ ha￭ ges multin￭ uc￭ le￭ ated giant cells an infl￭ am￭ matory infiltr￭ ate of lymp￭ ho￭ cy￭ tes and his￭ ti￭ oc￭ y￭ tes in the bone marrow and a generalized sclerosis of the long bones
his￭ ti￭ oc￭ y￭ to￭ sis
in medicine his￭ ti￭ oc￭ y￭ to￭ sis refers to an excessive number of his￭ ti￭ oc￭ y￭ tes tissue macro￭ p￭ ha￭ ges and is typically used to refer to a group of rare diseases which share this as a characteristic occasionally and conf￭ us￭ ingly the term his￭ ti￭ oc￭ y￭ to￭ sis is sometimes used to refer to individual diseases his￭ ti￭ oc￭ y￭ to￭ sis and m￭ align￭ ant his￭ ti￭ oc￭ y￭ to￭ sis are both important in veterinary as well as human path￭ ology
lang￭ er￭ hans cell his￭ ti￭ oc￭ y￭ to￭ sis
lang￭ er￭ hans cell his￭ ti￭ oc￭ y￭ to￭ sis l￭ ch is a rare disease involving cl￭ onal proliferation of lang￭ er￭ hans cells abnormal cells deriving from bone marrow and capable of migr￭ ating from skin to lymp￭ h no￭ des clin￭ ically its manifestations range from isolated bone le￭ sions to multi￭ system disease l￭ ch is part of a group of clinical syndro￭ mes called his￭ ti￭ oc￭ y￭ to￭ ses which are characterized by an abnormal proliferation of his￭ ti￭ oc￭ y￭ tes an archaic term for activated d￭ end￭ ri￭ tic cells and macro￭ p￭ ha￭ ges these diseases are related to other forms of abnormal proliferation of white blood cells such as leuk￭ emi￭ as and lymp￭ hom￭ as
bow￭ en s disease
bow￭ en s disease b￭ d also known as squ￭ am￭ ous cell carcin￭ oma in situ is a ne￭ op￭ l￭ astic skin disease it can be considered as an early stage or intra￭ ep￭ id￭ er￭ mal form of squ￭ am￭ ous cell carcin￭ oma it was named after john t bow￭ en er￭ y￭ thro￭ pl￭ asia of qu￭ ey￭ rat is a particular type of squ￭ am￭ ous cell carcin￭ oma in situ which can arise on the gl￭ ans or pre￭ pu￭ ce in males and vul￭ va in females and may be induced by human pap￭ il￭ lo￭ ma virus it is reported to occur in cor￭ ne￭ os￭ cl￭ eral lim￭ bus
lob￭ ular carcin￭ oma in situ
duc￭ tal carcin￭ oma in situ
duc￭ tal carcin￭ oma in situ d￭ cis also known as in￭ trad￭ uc￭ tal carcin￭ oma is a pre can￭ cer￭ ous or non invasive can￭ cer￭ ous le￭ sion of the breast d￭ cis is classified as stage 0 it rarely produces symptoms or a breast lump one can feel and is usually detected through screening mammo￭ graphy about 20 – 30 of those who do not receive treatment develop breast cancer it is the most common type of pre cancer in women there is some disagreement as to whether for statistical purposes it should be counted as a cancer some include d￭ cis when calculating breast cancer statistics while others do not
duc￭ tal carcin￭ oma in situ d￭ cis also known as in￭ trad￭ uc￭ tal carcin￭ oma is a pre can￭ cer￭ ous or non invasive can￭ cer￭ ous le￭ sion of the breast d￭ cis is classified as stage 0 it rarely produces symptoms or a breast lump one can feel and is usually detected through screening mammo￭ graphy in d￭ cis abnormal cells are found in the lining of one or more milk duc￭ ts in the breast in situ means in place and refers to the fact that the abnormal cells have not moved out of the mam￭ mary duc￭ t and into any of the surrounding tissues in the breast pre can￭ cer￭ ous refers to the fact that it has not yet become an invasive cancer in some cases d￭ cis may become invasive and spread to other tissues but there is no way of determining which le￭ sions will remain stable without treatment and which will go on to become invasive d￭ cis encompasses a wide spectrum of diseases ranging from low grade le￭ sions that are not life threatening to high grade i e potentially highly aggressive le￭ sions d￭ cis has been classified according to the architectural pattern of the cells solid cri￭ bri￭ form pap￭ ill￭ ary and micro￭ pap￭ ill￭ ary tumor grade high intermediate and low grade and the presence or absence of com￭ edo his￭ to￭ logy d￭ cis can be detected on mammo￭ grams by examining tiny spec￭ ks of calcium known as micro￭ calci￭ fications since suspicious groups of micro￭ calci￭ fications can appear even in the absence of d￭ cis a biopsy may be necessary for diagnosis about 20 – 30 of those who do not receive treatment develop breast cancer it is the most common type of pre cancer in women there is some disagreement as to whether for statistical purposes it should be counted as a cancer some include d￭ cis when calculating breast cancer statistics while others do not
cer￭ vic￭ al intra￭ epi￭ the￭ li￭ al ne￭ op￭ la￭ sia
cer￭ vic￭ al intra￭ epi￭ the￭ li￭ al ne￭ op￭ la￭ sia cin also known as cer￭ vic￭ al dys￭ pl￭ asia and cer￭ vic￭ al inter￭ sti￭ tial ne￭ op￭ la￭ sia is the potentially pre￭ m￭ align￭ ant transformation and abnormal growth dys￭ pl￭ asia of squ￭ am￭ ous cells on the surface of the cer￭ vi￭ x cin is not cancer and is usually cur￭ able most cases of cin remain stable or are eliminated by the host s immune system without intervention however a small percentage of cases progress to become cer￭ vic￭ al cancer usually cer￭ vic￭ al squ￭ am￭ ous cell carcin￭ oma sc￭ c if left untreated the major cause of cin is chronic infection of the cer￭ vi￭ x with the sexually transmitted human pap￭ il￭ lo￭ ma￭ virus h￭ p￭ v especially the high risk h￭ p￭ v types 16 or 18 over 100 types of h￭ p￭ v have been identified about a dozen of these types appear to cause cer￭ vic￭ al dys￭ pl￭ asia and may l
vul￭ var intra￭ epi￭ the￭ li￭ al ne￭ op￭ la￭ sia
er￭ y￭ thro￭ pl￭ asia of qu￭ ey￭ rat
er￭ y￭ thro￭ pl￭ asia of qu￭ ey￭ rat is a squ￭ am￭ ous cell carcin￭ oma in situ of the gl￭ ans penis head of the penis or inner pre￭ pu￭ ce fores￭ kin in males and the vul￭ v￭ ae in females it mainly occurs in un￭ circum￭ c￭ ised males over the age of 40 er￭ y￭ thro￭ pl￭ asia of qu￭ ey￭ rat may also occur on the anal mu￭ co￭ sa or the oral mu￭ co￭ sa it is named for french der￭ mato￭ logist louis qu￭ ey￭ rat 18￭ 56 1933 who was head of the der￭ mat￭ ology service of l h￭ ô￭ p￭ ital ric￭ ord a ven￭ ere￭ al hospital in paris now h￭ ô￭ p￭ ital co￭ chin
ple￭ om￭ orph￭ ic aden￭ oma
war￭ thin s tumor
war￭ thin s tumor or war￭ thin tum￭ our also known as pap￭ ill￭ ary cy￭ stad￭ en￭ oma lymp￭ hom￭ ato￭ sum mon￭ om￭ orph￭ ic aden￭ oma or aden￭ olymp￭ homa is a benign c￭ ys￭ tic tumor of the sali￭ vary g￭ lands containing abundant lymp￭ ho￭ cy￭ tes and germin￭ al centers lymp￭ h no￭ de like st￭ roma it is named for patho￭ logist al￭ d￭ red scott war￭ thin who described two cases in 1929
aden￭ oma
an aden￭ oma from greek α￭ δ￭ έν￭ ας aden￭ o g￭ land ώ￭ μα oma tumor ˌ￭ æ￭ d￭ ᵻ￭ ˈ￭ no￭ ʊ￭ m￭ ə plural aden￭ om￭ as or aden￭ om￭ ata ˌ￭ æ￭ d￭ ᵻ￭ ˈ￭ no￭ ʊ￭ m￭ ᵻ￭ t￭ ə is a benign tumor of epi￭ the￭ li￭ al tissue with g￭ land￭ ular origin g￭ land￭ ular characteristics or both aden￭ om￭ as can grow from many g￭ land￭ ular organs including the adren￭ al g￭ lands pit￭ u￭ itary g￭ land thyro￭ id pro￭ state and others some aden￭ om￭ as grow from epi￭ the￭ li￭ al tissue in n￭ ong￭ land￭ ular areas but express g￭ land￭ ular tissue structure as can happen in famili￭ al poly￭ pos￭ is coli although aden￭ om￭ as are benign over time they may transform to become m￭ align￭ ant at which point they are called aden￭ o￭ carcin￭ om￭ as most aden￭ om￭ as do not transform but even while benign they have the potential to cause serious health complications by com￭ pressing other structures mass effect and by pro
o￭ ste￭ och￭ on￭ dro￭ ma
o￭ ste￭ och￭ on￭ dro￭ mas or o￭ ste￭ o￭ car￭ ti￭ lag￭ inous exo￭ sto￭ ses are the most common benign tumors of the bones the tumors take the form of car￭ til￭ age capped bon￭ y projections or out￭ growth on the surface of bones exo￭ sto￭ ses it is characterized as a type of over￭ growth that can occur in any bone where car￭ til￭ age forms bone tumors most commonly affect long bones in the leg pel￭ vis or s￭ cap￭ ula shoulder blade development of o￭ ste￭ och￭ on￭ dro￭ mas take place during sk￭ el￭ etal growth between the ages of 13 and 15 and ceases when the growth plate fuses at pu￭ ber￭ ty they arise within the first three decades of life affecting children and adolescents o￭ ste￭ och￭ on￭ dro￭ mas occur in 3 of the general population and represent 35 of all benign tumors and 8 of all bone tumors majority of these tumors are solitary non hereditary le
o￭ ste￭ och￭ on￭ dro￭ mas or o￭ ste￭ o￭ car￭ ti￭ lag￭ inous exo￭ sto￭ ses are the most common benign tumors of the bones the tumors take the form of car￭ til￭ age capped bon￭ y projections or out￭ growth on the surface of bones exo￭ sto￭ ses it is characterized as a type of over￭ growth that can occur in any bone where car￭ til￭ age forms bone tumors most commonly affect long bones in the leg pel￭ vis or s￭ cap￭ ula shoulder blade development of o￭ ste￭ och￭ on￭ dro￭ mas take place during sk￭ el￭ etal growth between the ages of 13 and 15 and ceases when the growth plate fuses at pu￭ ber￭ ty they arise within the first three decades of life affecting children and adolescents o￭ ste￭ och￭ on￭ dro￭ mas occur in 3 of the general population and represent 35 of all benign tumors and 8 of all bone tumors majority of these tumors are solitary non hereditary le￭ sions and approximately 15 of o￭ ste￭ och￭ on￭ dro￭ mas occur as hereditary multiple o￭ ste￭ och￭ on￭ dro￭ mas h￭ mos they can occur as a solitary le￭ sion solitary o￭ ste￭ och￭ on￭ dro￭ ma or multiple le￭ sions within the context of the same bone multiple o￭ ste￭ och￭ on￭ dro￭ ma o￭ ste￭ och￭ on￭ dro￭ mas do not result from injury and the exact cause remains unknown recent research has indicated that multiple o￭ ste￭ och￭ on￭ dro￭ mas is an auto￭ som￭ al dominant inherited disease germ line mutations in ext 1 and ext 2 genes located on chro￭ mo￭ som￭ es 8 and 11 have been associated with the cause of the disease the treatment choice for o￭ ste￭ och￭ on￭ dro￭ ma is surgical removal of solitary le￭ sion or partial exc￭ ision of the out￭ growth when symptoms cause motion limitations or nerve and blood vessel imp￭ ing￭ ements
o￭ ste￭ oma
an o￭ ste￭ oma plural o￭ ste￭ om￭ ata is a new piece of bone usually growing on another piece of bone typically the skull it is a benign tumor when the bone tumor grows on other bone it is known as hom￭ op￭ l￭ astic o￭ ste￭ oma when it grows on other tissue it is called heter￭ op￭ l￭ astic o￭ ste￭ oma
ch￭ on￭ dro￭ ma
a ch￭ on￭ dro￭ ma is a benign car￭ ti￭ lag￭ inous tumor which is en￭ capsul￭ ated with a lob￭ ular growing pattern tumor cells ch￭ on￭ dro￭ cy￭ tes car￭ ti￭ lag￭ inous cells resemble normal cells and produce the car￭ ti￭ lag￭ inous matrix am￭ orph￭ ous bas￭ oph￭ il￭ ic material characteristic features of this tumor include the vascular axes within the tumor which make the distinction with normal hy￭ al￭ ine car￭ til￭ age based upon location a ch￭ on￭ dro￭ ma can be described as an en￭ ch￭ on￭ dro￭ ma or ec￭ ch￭ on￭ dro￭ ma en￭ ch￭ on￭ dro￭ ma tumor grows within the bone and expands it ec￭ ch￭ on￭ dro￭ ma grows outward from the bone and this is rare
a ch￭ on￭ dro￭ ma is a benign car￭ ti￭ lag￭ inous tumor which is en￭ capsul￭ ated with a lob￭ ular growing pattern tumor cells ch￭ on￭ dro￭ cy￭ tes car￭ ti￭ lag￭ inous cells resemble normal cells and produce the car￭ ti￭ lag￭ inous matrix am￭ orph￭ ous bas￭ oph￭ il￭ ic material characteristic features of this tumor include the vascular axes within the tumor which make the distinction with normal hy￭ al￭ ine car￭ til￭ age based upon location a ch￭ on￭ dro￭ ma can be described as an en￭ ch￭ on￭ dro￭ ma or ec￭ ch￭ on￭ dro￭ ma en￭ ch￭ on￭ dro￭ ma tumor grows within the bone and expands it ec￭ ch￭ on￭ dro￭ ma grows outward from the bone and this is rare treatment best left alone if it causes fractu￭ res en￭ ch￭ on￭ dro￭ ma or is un￭ sigh￭ tly it should be removed by cu￭ re￭ tt￭ age and the defect filled with bone graft
ker￭ at￭ oc￭ ys￭ tic od￭ on￭ to￭ genic tum￭ our
am￭ elo￭ bl￭ ast￭ oma
am￭ elo￭ bl￭ ast￭ oma from the early english word am￭ el meaning en￭ am￭ el the greek word bl￭ ast￭ os meaning germ is a rare benign tumor of od￭ on￭ to￭ genic epi￭ the￭ lium am￭ elo￭ bl￭ asts or outside portion of the teeth during development much more commonly appearing in the lower jaw than the upper jaw it was recognized in 18￭ 27 by cus￭ ack this type of od￭ on￭ to￭ genic ne￭ op￭ las￭ m was designated as an adam￭ an￭ tin￭ oma in 18￭ 85 by the french physician louis charles mal￭ as￭ se￭ z it was finally ren￭ amed to the modern name am￭ elo￭ bl￭ ast￭ oma in 1930 by i￭ vey and churchill
cem￭ ent￭ obl￭ ast￭ oma
o￭ ste￭ o￭ id o￭ ste￭ oma
an o￭ ste￭ o￭ id o￭ ste￭ oma is a benign bone tumor that arises from o￭ ste￭ obl￭ asts and was originally thought to be a smaller version of an o￭ ste￭ obl￭ ast￭ oma o￭ ste￭ o￭ id o￭ ste￭ om￭ as tend to be less than 1 5 cm in size the tumor can be in any bone in the body but are most common in long bones such as the fem￭ ur and ti￭ bia they account for 10 to 12 percent of all benign bone tumors o￭ ste￭ o￭ id o￭ ste￭ om￭ as may occur at any age and are most common in patients between the ages of 4 and 25 years old males are affected approximately three times more commonly than females
my￭ el￭ oli￭ po￭ ma
my￭ el￭ oli￭ po￭ ma my￭ elo from the ancient greek μ￭ υ￭ ελ￭ ός marrow li￭ po meaning of or pertaining to fat oma meaning tumor or mass is a benign tumor like le￭ sion composed of mature adi￭ pose fat tissue and ha￭ emato￭ po￭ ie￭ tic blood forming elements in various proportions my￭ el￭ oli￭ po￭ mas can present in the adren￭ al g￭ land or outside of the g￭ land
hi￭ ber￭ no￭ ma
a hi￭ ber￭ no￭ ma is a benign ne￭ op￭ las￭ m of vesti￭ gi￭ al brown fat the term was originally used by gery in 1914
li￭ po￭ ma
a li￭ po￭ ma is a benign tumor composed of adi￭ pose tissue body fat it is the most common benign form of soft tissue tumor li￭ po￭ mas are soft to the touch usually movable and are generally pain￭ less many li￭ po￭ mas are small under one centi￭ meter diameter but can enlarge to sizes greater than six centi￭ meters li￭ po￭ mas are commonly found in adults from 40 to 60 years of age but can also be found in younger adults and children some sources claim that m￭ align￭ ant transformation can occur while others say this has yet to be convincingly documented
blue rubber ble￭ b nev￭ us syndrome
blue rubber ble￭ b nev￭ us syndrome or br￭ b￭ ns or blue rubber ble￭ b syndrome or blue rubber ble￭ b nev￭ us or bean syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the gastro￭ intest￭ inal tract it was characterized by william bean in 1958 br￭ b￭ ns is caused by som￭ atic mutations in the te￭ k tie 2 gene
an￭ gi￭ oma
an￭ gi￭ om￭ as are benign tumors derived from cells of the vascular or lymp￭ h￭ atic vessel walls endo￭ the￭ lium or derived from cells of the tissues surrounding these vessels an￭ gi￭ om￭ as are a frequent occurrence as patients age but they might be an indicator of systemic problems such as liver disease they are not commonly associated with m￭ align￭ ancy
lymp￭ han￭ gi￭ oma
lymp￭ han￭ gi￭ om￭ as are mal￭ formations of the lymp￭ h￭ atic system characterized by le￭ sions that are thin w￭ alled cy￭ sts these cy￭ sts can be macro￭ scopic as in a c￭ ys￭ tic hy￭ gro￭ ma or micro￭ scopic the lymp￭ h￭ atic system is the network of vessels responsible for returning to the ven￭ ous system excess fluid from tissues as well as the lymp￭ h no￭ des that filter this fluid for signs of pathogens these mal￭ formations can occur at any age and may involve any part of the body but 90 occur in children less than 2 years of age and involve the head and neck these mal￭ formations are either con￭ genital or acquired con￭ genital lymp￭ han￭ gi￭ om￭ as are often associated with chro￭ mo￭ som￭ al ab￭ norm￭ alities such as turner syndrome although they can also exist in isolation lymp￭ han￭ gi￭ om￭ as are commonly diagnosed before birth using fe￭ tal ul
hem￭ an￭ gi￭ oma
an inf￭ anti￭ le hem￭ an￭ gi￭ oma i￭ h is one of the most common benign tumors of infancy and occurs in approximately 5 – 10 of infants the word hem￭ an￭ gi￭ oma comes from the greek ha￭ ema α￭ ί￭ μα blood ange￭ io αγ￭ γ￭ εί￭ ο vessel oma ω￭ μα tumor inf￭ anti￭ le hem￭ an￭ gi￭ om￭ as are benign vascular tumors composed of an increased number of unique endo￭ the￭ li￭ al cells that line blood vessels they occur more frequently in female premature and low birth weight infants inf￭ anti￭ le hem￭ an￭ gi￭ om￭ as usually appear within the first weeks of life and grow most rapidly during the first three to six months of life for most hem￭ an￭ gi￭ om￭ as 80 of inf￭ anti￭ le hem￭ an￭ gi￭ oma size is generally reached by 3 months of age usually growth and proliferation is complete and inv￭ olution commences by twelve months of age however inv￭ olu￭ tio
c￭ ys￭ tic hy￭ gro￭ ma
a c￭ ys￭ tic hy￭ gro￭ ma also known as c￭ ys￭ tic lymp￭ han￭ gi￭ oma and macro￭ c￭ ys￭ tic lymp￭ h￭ atic mal￭ formation is an often con￭ genital multi￭ loc￭ ulated lymp￭ h￭ atic le￭ sion that can arise anywhere but is class￭ ically found in the left poster￭ ior triangle of the neck and ar￭ mp￭ its this is the most common form of lymp￭ han￭ gi￭ oma it contains large cyst like ca￭ vities containing lymp￭ h a wat￭ ery fluid that circul￭ ates throughout the lymp￭ h￭ atic system micro￭ sco￭ p￭ ically c￭ ys￭ tic hy￭ gro￭ ma consists of multiple loc￭ ules filled with lymp￭ h in the depth the loc￭ ules are quite big but they decrease in size towards the surface
my￭ oma
r￭ hab￭ dom￭ y￭ oma
a r￭ hab￭ dom￭ y￭ oma is a benign tumor of stri￭ ated muscle r￭ hab￭ dom￭ y￭ om￭ as may be either cardiac or extra cardiac occurring outside the heart ex￭ trac￭ ardi￭ ac forms of r￭ hab￭ dom￭ y￭ oma are sub classified into three distinct types adult type fe￭ tal type and genital type cardiac r￭ hab￭ dom￭ y￭ om￭ as are the most common primary tumor of the heart in infants and children it has an association with tuber￭ ous sclerosis in those with tuber￭ ous sclerosis the tumor may reg￭ ress and disappear completely or remain consistent in size
a r￭ hab￭ dom￭ y￭ oma is a benign tumor of stri￭ ated muscle r￭ hab￭ dom￭ y￭ om￭ as may be either cardiac or extra cardiac occurring outside the heart ex￭ trac￭ ardi￭ ac forms of r￭ hab￭ dom￭ y￭ oma are sub classified into three distinct types adult type fe￭ tal type and genital type cardiac r￭ hab￭ dom￭ y￭ om￭ as are the most common primary tumor of the heart in infants and children it has an association with tuber￭ ous sclerosis in those with tuber￭ ous sclerosis the tumor may reg￭ ress and disappear completely or remain consistent in size it is most commonly associated with the tongue and heart but can also occur in other locations such as the vag￭ ina m￭ align￭ ant sk￭ el￭ etal muscle tumors are referred to as r￭ hab￭ dom￭ y￭ os￭ ar￭ coma only rare cases of possible m￭ align￭ ant change have been reported in fe￭ tal r￭ hab￭ dom￭ y￭ oma the differential diagnosis in the tongue includes ec￭ tom￭ es￭ en￭ ch￭ ym￭ al ch￭ on￭ dro￭ my￭ x￭ o￭ id tumor
lei￭ om￭ y￭ oma
my￭ x￭ oma
mel￭ an￭ oc￭ y￭ tic nev￭ us
a mel￭ an￭ oc￭ y￭ tic nev￭ us also known as ne￭ vo￭ cy￭ tic nev￭ us is a type of le￭ sion that contains nev￭ us cells a type of mel￭ an￭ oc￭ y￭ te some sources equate the term mole with mel￭ an￭ oc￭ y￭ tic nev￭ us other sources reserve the term mole for other purposes
sp￭ itz nev￭ us
a sp￭ itz nev￭ us also known as an epi￭ the￭ li￭ o￭ id and spin￭ dle cell nev￭ us benign juvenile mel￭ anom￭ a and sp￭ itz s juvenile mel￭ anom￭ a is a benign mel￭ an￭ oc￭ y￭ tic nev￭ us a type of skin le￭ sion affecting the ep￭ id￭ er￭ mis and der￭ mis the name juvenile mel￭ anom￭ a is generally no longer used as it is misleading it is not a mel￭ anom￭ a it is a benign le￭ sion and it can also occur in adults not only in children
con￭ genital mel￭ an￭ oc￭ y￭ tic nev￭ us
the con￭ genital mel￭ an￭ oc￭ y￭ tic nev￭ us is a type of mel￭ an￭ oc￭ y￭ tic nev￭ us or mole found in infants at birth this type of birth￭ mark occurs in an estimated 1 of infants worldwide it is located in the area of the head and neck 15 of the time
nev￭ us of ota
nev￭ us of ota also known as con￭ genital mel￭ an￭ osis bul￭ bi nev￭ us fus￭ co￭ cer￭ ul￭ eus oph￭ thal￭ mom￭ ax￭ il￭ lar￭ is oc￭ ul￭ o￭ der￭ mal mel￭ an￭ oc￭ y￭ to￭ sis and oc￭ ul￭ om￭ u￭ co￭ der￭ mal mel￭ an￭ oc￭ y￭ to￭ sis is a blue hyper￭ pi￭ gm￭ entation that occurs on the face it was first reported by dr m t ota of japan in 1939
mongo￭ lian spot
bec￭ ker s nev￭ us
bec￭ ker s nev￭ us also known as bec￭ ker s mel￭ an￭ osis bec￭ ker s pi￭ gm￭ entary ham￭ ar￭ tom￭ a ne￭ void mel￭ an￭ osis and pi￭ gm￭ ented ha￭ iry ep￭ id￭ er￭ mal nev￭ us is a skin disorder predominantly affecting males the nev￭ us generally first appears as an irregular pi￭ gm￭ entation mel￭ an￭ osis or hyper￭ pi￭ gm￭ entation on the tor￭ so or upper arm though other areas of the body can be affected and gradually enlar￭ ges ir￭ regularly becoming thick￭ ened and often ha￭ iry hyper￭ tric￭ ho￭ sis the nev￭ us is due to an over￭ growth of the ep￭ id￭ er￭ mis pig￭ ment cells mel￭ an￭ oc￭ y￭ tes and hair fol￭ lic￭ les this form of nev￭ us was first documented in 1948 by american der￭ mato￭ logist samuel william bec￭ ker 18￭ 94 – 1964
pilo￭ matri￭ coma
tric￭ ho￭ epi￭ the￭ li￭ oma
tric￭ ho￭ epi￭ the￭ li￭ oma is a ne￭ op￭ las￭ m of the ad￭ n￭ ex￭ a of the skin its appearance is similar to bas￭ al cell carcin￭ oma one form has been mapped to chro￭ mo￭ some 9 p 21
tric￭ ho￭ fol￭ lic￭ ul￭ oma
tric￭ ho￭ fol￭ lic￭ ul￭ oma is a cu￭ taneous condition characterized by a benign highly structured tumor of the pilo￭ se￭ bac￭ eous unit
ker￭ ato￭ ac￭ an￭ thom￭ a
ker￭ ato￭ ac￭ an￭ thom￭ a ka is a common low grade unlikely to me￭ tast￭ asi￭ ze or invade skin tum￭ our that is believed to originate from the neck of the hair fol￭ lic￭ le the defining characteristic of ka is that it is dom￭ e shaped symmetr￭ ical surrounded by a smooth wall of infl￭ amed skin and capped with ker￭ atin scales and debris it grows rapidly reaching a large size within days or weeks and if untreated for months will almost always starve itself of nour￭ ishment nec￭ rose die sl￭ ough and heal with scar￭ ring ka is commonly found on sun exposed skin often face fore￭ arms and hands
an￭ gi￭ ok￭ er￭ atom￭ a
benign fi￭ bro￭ us his￭ ti￭ oc￭ y￭ tom￭ a
benign fi￭ bro￭ us his￭ ti￭ oc￭ y￭ tom￭ as also known as der￭ mal d￭ end￭ ro￭ cy￭ tom￭ a der￭ mato￭ fi￭ bro￭ ma fi￭ bro￭ us der￭ mato￭ fi￭ bro￭ ma fi￭ bro￭ us his￭ ti￭ oc￭ y￭ tom￭ a fi￭ bro￭ ma simpl￭ ex no￭ d￭ ular su￭ be￭ pid￭ er￭ mal fi￭ bro￭ sis and s￭ cl￭ ero￭ sing hem￭ an￭ gi￭ oma are benign skin grow￭ ths
hi￭ dro￭ cy￭ stom￭ a
hi￭ dro￭ cy￭ stom￭ a also known as cy￭ stad￭ en￭ oma a mo￭ ll s g￭ land cyst and a sud￭ ori￭ fer￭ ous cyst is an aden￭ oma of the sweat g￭ lands hi￭ dro￭ cy￭ stom￭ as are cy￭ sts of sweat duc￭ ts usually on the eye￭ li￭ ds they are not tum￭ ours a similar sounding le￭ sion called hi￭ dro￭ aden￭ oma is a benign tum￭ our there are three types of sweat g￭ lands true sweat g￭ lands or ec￭ cr￭ ine g￭ lands se￭ bac￭ eous g￭ lands which have an o￭ ily secre￭ tion around hair fol￭ lic￭ les and apo￭ cr￭ ine g￭ lands which have more o￭ ily product than ec￭ cr￭ ine g￭ lands and are found on the face ar￭ mp￭ it and gro￭ in
hi￭ dro￭ cy￭ stom￭ a also known as cy￭ stad￭ en￭ oma a mo￭ ll s g￭ land cyst and a sud￭ ori￭ fer￭ ous cyst is an aden￭ oma of the sweat g￭ lands hi￭ dro￭ cy￭ stom￭ as are cy￭ sts of sweat duc￭ ts usually on the eye￭ li￭ ds they are not tum￭ ours a similar sounding le￭ sion called hi￭ dro￭ aden￭ oma is a benign tum￭ our there are three types of sweat g￭ lands true sweat g￭ lands or ec￭ cr￭ ine g￭ lands se￭ bac￭ eous g￭ lands which have an o￭ ily secre￭ tion around hair fol￭ lic￭ les and apo￭ cr￭ ine g￭ lands which have more o￭ ily product than ec￭ cr￭ ine g￭ lands and are found on the face ar￭ mp￭ it and gro￭ in hi￭ dro￭ cy￭ stom￭ as usually arise from apo￭ cr￭ ine g￭ lands they are also called cy￭ sts of mo￭ ll or sud￭ ori￭ fer￭ ous cy￭ sts there may be a type of hi￭ dro￭ aden￭ oma that arises from ec￭ cr￭ ine g￭ lands but these are un￭ common other related conditions on the eye￭ li￭ ds include chal￭ az￭ ion a gran￭ ul￭ om￭ at￭ ous reaction to se￭ bac￭ eous g￭ lands on the eye￭ lid lac￭ ri￭ mal duc￭ t cy￭ sts cy￭ sts related to tear duc￭ ts and nas￭ ol￭ ac￭ ri￭ mal duc￭ t cy￭ sts the nas￭ ol￭ ac￭ ri￭ mal duc￭ t dra￭ ins tears into the nose via a punc￭ tum on the lower eye￭ lid
syr￭ ing￭ oma
syr￭ ing￭ om￭ as are harmless ec￭ cr￭ ine sweat duc￭ t tumors typically found clu￭ stered on eye￭ li￭ ds although they may also be found in the ar￭ mp￭ its ab￭ dom￭ en chest neck scal￭ p or gro￭ in area including gen￭ itals in a sym￭ metric pattern they are skin colored or yel￭ low￭ ish firm rounded bu￭ mps 1 – 3 mm in diameter and may be confused with x￭ an￭ thom￭ a mi￭ lia hi￭ dro￭ cy￭ stom￭ a tric￭ ho￭ epi￭ the￭ li￭ oma and x￭ anth￭ el￭ as￭ ma they are more common in women and are most commonly found in middle aged asian women while they can present at any time in life they typically present during adoles￭ cence they are usually not associated with any other symptoms although can sometimes cause it￭ chin￭ ess or irritation
fi￭ broad￭ en￭ oma
uter￭ ine fi￭ bro￭ id
uter￭ ine fi￭ bro￭ ids also known as uter￭ ine lei￭ om￭ y￭ om￭ as or fi￭ bro￭ ids are benign smooth muscle tumors of the uter￭ us most women have no symptoms while others may have painful or heavy periods if large enough they may push on the blad￭ der causing a frequent need to ur￭ inate they may also cause pain during sex or lower back pain a woman can have one uter￭ ine fi￭ bro￭ id or many of them occasionally fi￭ bro￭ ids may make it difficult to get pregnant although this is un￭ common
me￭ i￭ gs syndrome
der￭ mo￭ id cyst
a der￭ mo￭ id cyst is a ter￭ atom￭ a of a c￭ ys￭ tic nature that contains an array of develop￭ mentally mature solid tissues it frequently consists of skin hair fol￭ lic￭ les and sweat g￭ lands while other commonly found components include clum￭ ps of long hair pockets of se￭ bum blood fat bone nails teeth eyes car￭ til￭ age and thyro￭ id tissue
an￭ gi￭ om￭ y￭ oli￭ po￭ ma
an￭ gi￭ om￭ y￭ oli￭ po￭ mas are the most common benign tum￭ our of the kidney and are composed of blood vessels smooth muscle cells and fat cells an￭ gi￭ om￭ y￭ oli￭ po￭ mas are strongly associated with the genetic disease tuber￭ ous sclerosis in which most individuals will have several an￭ gi￭ om￭ y￭ oli￭ po￭ mas affecting both kidneys they are also commonly found in women with the rare lung disease lymp￭ han￭ gi￭ ole￭ i￭ om￭ y￭ om￭ at￭ osis an￭ gi￭ om￭ y￭ oli￭ po￭ mas are less commonly found in the liver and rarely in other organs whether associated with these diseases or spor￭ adic an￭ gi￭ om￭ y￭ oli￭ po￭ mas are caused by mutations in either the ts￭ c 1 or ts￭ c 2 genes which govern cell growth and proliferation
neuro￭ fi￭ bro￭ mat￭ osis type ii
neuro￭ fi￭ bro￭ mat￭ osis type ii or mis￭ me syndrome for multiple inherited sch￭ wan￭ no￭ mas men￭ ing￭ i￭ om￭ as and ep￭ end￭ y￭ mom￭ as is a genetic condition which may be inherited or may arise spontaneously the main manifestation of the condition is the development of sym￭ metric non m￭ align￭ ant brain tumors in the region of the cran￭ ial nerve viii which is the aud￭ itory vesti￭ bul￭ ar nerve that trans￭ mits sensory information from the inner ear to the brain many people with this condition also experience visual problems n￭ f ii is caused by mutations of the merlin gene which seems to influence the form and movement of cells the principal treatments consist of neuro￭ surgical removal of the tumors and surgical treatment of the eye le￭ sions historically the underlying disorder has not had any therapy due to the
neuro￭ fi￭ bro￭ mat￭ osis type ii or mis￭ me syndrome for multiple inherited sch￭ wan￭ no￭ mas men￭ ing￭ i￭ om￭ as and ep￭ end￭ y￭ mom￭ as is a genetic condition which may be inherited or may arise spontaneously the main manifestation of the condition is the development of sym￭ metric non m￭ align￭ ant brain tumors in the region of the cran￭ ial nerve viii which is the aud￭ itory vesti￭ bul￭ ar nerve that trans￭ mits sensory information from the inner ear to the brain many people with this condition also experience visual problems n￭ f ii is caused by mutations of the merlin gene which seems to influence the form and movement of cells the principal treatments consist of neuro￭ surgical removal of the tumors and surgical treatment of the eye le￭ sions historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation however new drug research and some clinical trials have shown some promise in having beneficial effects collaborative research to find better treatments is ongoing such as the work of the sy￭ no￭ dos n￭ f 2 consortium of scientists
pal￭ lis￭ ter – hall syndrome
vesti￭ bul￭ ar sch￭ wan￭ no￭ ma
a vesti￭ bul￭ ar sch￭ wan￭ no￭ ma is a benign primary in￭ trac￭ ran￭ ial tumor of the my￭ elin forming cells of the vesti￭ bul￭ o￭ co￭ ch￭ lear nerve 8 th cran￭ ial nerve a type of sch￭ wan￭ no￭ ma this tumor arises from the schw￭ ann cells responsible for the my￭ elin she￭ ath that helps keep peripheral nerves insulated although it is commonly called an acous￭ tic neuro￭ ma this a mis￭ no￭ mer for two reasons first the tumor usually arises from the vesti￭ bul￭ ar division of the vesti￭ bul￭ o￭ co￭ ch￭ lear nerve rather than the co￭ ch￭ lear division second it is derived from the schw￭ ann cells of the associated nerve rather than the actual neurons neuro￭ mas
thyro￭ id aden￭ oma
p￭ he￭ och￭ ro￭ mo￭ cy￭ tom￭ a
pit￭ u￭ itary aden￭ oma
pit￭ u￭ itary aden￭ om￭ as are tumors that occur in the pit￭ u￭ itary g￭ land pit￭ u￭ itary aden￭ om￭ as are generally divided into three categories dependent upon their biological functioning benign aden￭ oma invasive aden￭ oma and carcin￭ om￭ as with carcin￭ om￭ as accounting for 0 1 to 0 2 approximately 35 being invasive aden￭ om￭ as and most being benign aden￭ om￭ as pit￭ u￭ itary aden￭ om￭ as represent from 10 to 25 of all in￭ trac￭ ran￭ ial ne￭ op￭ las￭ ms and the estimated prevalence rate in the general population is approximately 17
pro￭ lac￭ tin￭ oma
a pro￭ lac￭ tin￭ oma is a benign tumor aden￭ oma of the pit￭ u￭ itary g￭ land that produces a hormone called pro￭ l￭ acti￭ n it is the most common type of pit￭ u￭ itary tumor symptoms of pro￭ lac￭ tin￭ oma are too much pro￭ l￭ acti￭ n in the blood hyper￭ pro￭ lac￭ tin￭ emia or those caused by pressure of the tumor on surrounding tissues based on size a pro￭ lac￭ tin￭ oma can be classified as a micro￭ pro￭ lac￭ tin￭ oma 10 mm diameter or macro￭ pro￭ lac￭ tin￭ oma 10 mm diameter
neuro￭ fi￭ bro￭ ma
a neuro￭ fi￭ bro￭ ma is a benign nerve she￭ ath tumor in the peripheral nervous system in 90 of cases they re found as stand alone tumors while the remainder are found in persons with neuro￭ fi￭ bro￭ mat￭ osis type i n￭ f 1 an auto￭ som￭ al dominant genetically inherited disease they can result in a range of symptoms from physical dis￭ figur￭ ation and pain to cognitive disability neuro￭ fi￭ bro￭ mas arise from non￭ my￭ el￭ inating type schw￭ ann cells that exhibit bi￭ all￭ el￭ ic in￭ activation of the n￭ f 1 gene that codes for the protein neuro￭ fi￭ bro￭ min this protein is responsible for regulating the ras medi￭ ated cell growth sign￭ aling path￭ way in contrast to sch￭ wan￭ no￭ mas another type of tumor arising from schw￭ ann cells neuro￭ fi￭ bro￭ mas incorporate many additional types of cells and structural elements in addition to schw￭ ann cells ma
a neuro￭ fi￭ bro￭ ma is a benign nerve she￭ ath tumor in the peripheral nervous system in 90 of cases they re found as stand alone tumors while the remainder are found in persons with neuro￭ fi￭ bro￭ mat￭ osis type i n￭ f 1 an auto￭ som￭ al dominant genetically inherited disease they can result in a range of symptoms from physical dis￭ figur￭ ation and pain to cognitive disability neuro￭ fi￭ bro￭ mas arise from non￭ my￭ el￭ inating type schw￭ ann cells that exhibit bi￭ all￭ el￭ ic in￭ activation of the n￭ f 1 gene that codes for the protein neuro￭ fi￭ bro￭ min this protein is responsible for regulating the ras medi￭ ated cell growth sign￭ aling path￭ way in contrast to sch￭ wan￭ no￭ mas another type of tumor arising from schw￭ ann cells neuro￭ fi￭ bro￭ mas incorporate many additional types of cells and structural elements in addition to schw￭ ann cells making it difficult to identify and understand all the mechanisms through which they originate and develop
gran￭ ular cell tumor
gran￭ ular cell tumor is a tumor that can develop on any skin or mu￭ cos￭ al surface but occurs on the tongue 40 of the time it is also known as ab￭ ri￭ ko￭ s￭ so￭ ff s tumor gran￭ ular cell my￭ obl￭ ast￭ oma gran￭ ular cell nerve she￭ ath tumor and gran￭ ular cell sch￭ wan￭ no￭ ma
gang￭ lion￭ euro￭ ma
cran￭ iop￭ har￭ yn￭ gi￭ oma
pine￭ al￭ oma
pine￭ al￭ oma is a tumor of the pine￭ al g￭ land
poly￭ cy￭ them￭ ia vera
poly￭ cy￭ them￭ ia or poly￭ cy￭ th￭ aemia see spelling differences vera p￭ v also known as er￭ y￭ thre￭ mia primary poly￭ cy￭ them￭ ia v￭ aqu￭ ez disease o￭ sl￭ er v￭ aqu￭ ez disease and poly￭ cy￭ them￭ ia ru￭ bra vera is a ne￭ op￭ las￭ m in which the bone marrow makes too many red blood cells it may also result in the overproduction of white blood cells and plat￭ el￭ ets
my￭ el￭ odys￭ plastic syndrome
the my￭ el￭ odys￭ plastic syndro￭ mes also known as m￭ ds or my￭ el￭ odys￭ pl￭ asia are hem￭ at￭ ological i e blood related medical conditions that cause ineffective production or dys￭ pl￭ asia of all blood cells patients with m￭ ds can develop severe an￭ emia and require blood trans￭ fu￭ sions in some cases the disease wor￭ sens and the patient develops cy￭ top￭ eni￭ as low blood counts caused by progressive bone marrow failure the outlook in m￭ ds depends on the type and severity many people live normal lif￭ esp￭ ans with m￭ ds
the my￭ el￭ odys￭ plastic syndro￭ mes also known as m￭ ds or my￭ el￭ odys￭ pl￭ asia are hem￭ at￭ ological i e blood related medical conditions that cause ineffective production or dys￭ pl￭ asia of all blood cells patients with m￭ ds can develop severe an￭ emia and require blood trans￭ fu￭ sions in some cases the disease wor￭ sens and the patient develops cy￭ top￭ eni￭ as low blood counts caused by progressive bone marrow failure the outlook in m￭ ds depends on the type and severity many people live normal lif￭ esp￭ ans with m￭ ds the my￭ el￭ odys￭ plastic syndro￭ mes are all disorders of the hem￭ ato￭ po￭ ie￭ tic stem cells in the bone marrow only related to my￭ elo￭ id line￭ age in m￭ ds hem￭ ato￭ po￭ ies￭ is i e blood production is disorderly and ineffective the number and quality of blood forming cells decline irre￭ versi￭ bly further imp￭ airing blood production the mean age of onset of m￭ ds is 68 years
my￭ elo￭ prolifer￭ ative ne￭ op￭ las￭ m
the my￭ elo￭ prolifer￭ ative ne￭ op￭ las￭ ms mp￭ ns previously my￭ elo￭ prolifer￭ ative diseases mp￭ ds are a group of diseases of the bone marrow in which excess cells are produced they are related to and may evolve into my￭ el￭ odys￭ plastic syndrome and acute my￭ elo￭ id leuk￭ emia although the my￭ elo￭ prolifer￭ ative diseases on the whole have a much better prog￭ no￭ sis than these conditions the concept of my￭ elo￭ prolifer￭ ative disease was first proposed in 1951 by the hem￭ ato￭ logist william dam￭ es￭ he￭ k in the most recent world health organization classification of hem￭ ato￭ logic m￭ align￭ ancies this group of diseases was ren￭ amed from my￭ elo￭ prolifer￭ ative diseases to my￭ elo￭ prolifer￭ ative ne￭ op￭ las￭ ms this reflects the underlying cl￭ onal genetic changes that are a salient feature of this group of disease
par￭ a￭ prote￭ in￭ emia
par￭ a￭ prote￭ in￭ emia also known as mono￭ cl￭ onal gam￭ mop￭ athy is the presence of excessive amounts of par￭ a￭ protein or single mono￭ cl￭ onal gam￭ mag￭ lob￭ ulin in the blood it is usually due to an underlying immun￭ o￭ prolifer￭ ative disorder or hem￭ ato￭ logic ne￭ op￭ las￭ ms especially multiple my￭ el￭ oma it is sometimes considered equivalent to plasma cell dys￭ cr￭ asia
mono￭ cl￭ onal gam￭ mop￭ athy of un￭ determined significance
mono￭ cl￭ onal gam￭ mop￭ athy of un￭ determined significance m￭ gus unknown or uncertain may be substituted for un￭ determined formerly benign mono￭ cl￭ onal gam￭ mop￭ athy is a condition in which a par￭ a￭ protein is found in the blood during standard laboratory blood tests it resembles multiple my￭ el￭ oma and similar diseases but the levels of anti￭ body are lower the number of plasma cells white blood cells that secre￭ te antibodies in the bone marrow is lower it has no symptoms or major problems although patients with m￭ gus have sometimes been reported to suffer from peripheral neuro￭ pa￭ thy and no treatment is indicated however multiple my￭ el￭ oma develops at the rate of about 1 5 a year so doctors recommend monitoring it yearly the progression from m￭ gus to multiple my￭ el￭ oma usually involves several steps
mono￭ cl￭ onal gam￭ mop￭ athy of un￭ determined significance m￭ gus unknown or uncertain may be substituted for un￭ determined formerly benign mono￭ cl￭ onal gam￭ mop￭ athy is a condition in which a par￭ a￭ protein is found in the blood during standard laboratory blood tests it resembles multiple my￭ el￭ oma and similar diseases but the levels of anti￭ body are lower the number of plasma cells white blood cells that secre￭ te antibodies in the bone marrow is lower it has no symptoms or major problems although patients with m￭ gus have sometimes been reported to suffer from peripheral neuro￭ pa￭ thy and no treatment is indicated however multiple my￭ el￭ oma develops at the rate of about 1 5 a year so doctors recommend monitoring it yearly the progression from m￭ gus to multiple my￭ el￭ oma usually involves several steps in rare cases it may also be related with a slowly progressive sym￭ metric dis￭ tal sens￭ or￭ im￭ o￭ tor neuro￭ pa￭ thy
thro￭ m￭ bo￭ cy￭ to￭ sis
thro￭ m￭ bo￭ cy￭ to￭ sis or thro￭ m￭ bo￭ cy￭ them￭ ia is the presence of high plat￭ elet counts in the blood and can be either primary also termed essential and caused by a my￭ elo￭ prolifer￭ ative disease or reactive also termed secondary although often symp￭ tom￭ less particularly when it is a secondary reaction it can pre￭ dispose to thro￭ m￭ bo￭ sis in some patients thro￭ m￭ bo￭ cy￭ to￭ sis can be contr￭ asted with thro￭ m￭ bo￭ cy￭ top￭ enia a loss of plat￭ el￭ ets in the blood
thro￭ m￭ bo￭ cy￭ to￭ sis or thro￭ m￭ bo￭ cy￭ them￭ ia is the presence of high plat￭ elet counts in the blood and can be either primary also termed essential and caused by a my￭ elo￭ prolifer￭ ative disease or reactive also termed secondary although often symp￭ tom￭ less particularly when it is a secondary reaction it can pre￭ dispose to thro￭ m￭ bo￭ sis in some patients thro￭ m￭ bo￭ cy￭ to￭ sis can be contr￭ asted with thro￭ m￭ bo￭ cy￭ top￭ enia a loss of plat￭ el￭ ets in the blood in a healthy individual a normal plat￭ elet count ranges from 150 000 and 450 000 per mm ³ or micro￭ litre 150 – 450 x 109 l these limits however are determined by the 2 5 th lower and upper per￭ centi￭ le and a deviation does not necessary imply any form of disease nevertheless counts over 750 000 and especially over a million are considered serious enough to warrant investigation and intervention
cast￭ lem￭ an s disease
cast￭ lem￭ an disease also known as giant or an￭ gi￭ o￭ fol￭ lic￭ ular lymp￭ h no￭ de hyper￭ pl￭ asia lymp￭ ho￭ id ham￭ ar￭ tom￭ a an￭ gi￭ o￭ fol￭ lic￭ ular lymp￭ h no￭ de hyper￭ pl￭ asia is a group of un￭ common lymp￭ ho￭ prolifer￭ ative disorders that share common lymp￭ h no￭ de his￭ to￭ logical features that may be loc￭ alized to a single lymp￭ h no￭ de unic￭ entr￭ ic or occur systemically mul￭ tic￭ entr￭ ic it is named after benjamin cast￭ lem￭ an
cast￭ lem￭ an disease also known as giant or an￭ gi￭ o￭ fol￭ lic￭ ular lymp￭ h no￭ de hyper￭ pl￭ asia lymp￭ ho￭ id ham￭ ar￭ tom￭ a an￭ gi￭ o￭ fol￭ lic￭ ular lymp￭ h no￭ de hyper￭ pl￭ asia is a group of un￭ common lymp￭ ho￭ prolifer￭ ative disorders that share common lymp￭ h no￭ de his￭ to￭ logical features that may be loc￭ alized to a single lymp￭ h no￭ de unic￭ entr￭ ic or occur systemically mul￭ tic￭ entr￭ ic it is named after benjamin cast￭ lem￭ an mul￭ tic￭ entr￭ ic cast￭ lem￭ an disease mc￭ d involves hyper￭ activation of the immune system excessive release of pro￭ infl￭ am￭ matory chemicals cy￭ to￭ k￭ ines proliferation of immune cells b cells and t cells and multiple organ system dysfunction cast￭ lem￭ an disease must be distinguished from other disorders that can demonstrate cast￭ lem￭ an like lymp￭ h no￭ de features including reactive lymp￭ h no￭ de hyper￭ pl￭ asia auto￭ immune disorders and m￭ align￭ ancies while not officially considered a cancer the over￭ growth of lymp￭ ho￭ cy￭ tes with this disease is similar to lymp￭ homa and more research is needed to search for small populations of ne￭ op￭ l￭ astic cells cast￭ lem￭ an disease is a focus of intense ongoing research
lymp￭ ho￭ prolifer￭ ative disorders
lymp￭ ho￭ prolifer￭ ative disorders l￭ p￭ ds refer to several conditions in which lymp￭ ho￭ cy￭ tes are produced in excessive quantities they typically occur in people who have a compromised immune system they are sometimes equ￭ ated with immun￭ o￭ prolifer￭ ative disorders but technically lymp￭ ho￭ prolifer￭ ative disorders are a sub￭ set of immun￭ o￭ prolifer￭ ative disorders along with hyper￭ gam￭ mag￭ lob￭ ul￭ in￭ emia and par￭ a￭ prote￭ in￭ emi￭ as
aggressive fi￭ bro￭ mat￭ osis
aggressive fi￭ bro￭ mat￭ osis is a rare condition marked by the presence of des￭ mo￭ id tumors des￭ mo￭ id tumors can arise in virtually any part of the body and are tumors that arise from cells called fi￭ bro￭ bl￭ asts which are found throughout the body and provide structural support protection to the vital organs and play a critical role in wound healing these tumors tend to occur in women in their thir￭ ties but can occur in anyone at any age they can be either relatively slow growing or m￭ align￭ ant however aggressive fi￭ bro￭ mat￭ osis is locally aggressive when they are aggressive they can cause life threatening problems or even death when they com￭ press vital organs such as intest￭ ines kidney lungs blood vessels nerves etc most cases are spor￭ adic but some are associated with famili￭ al aden￭ om￭ at￭ ous p
aggressive fi￭ bro￭ mat￭ osis is a rare condition marked by the presence of des￭ mo￭ id tumors des￭ mo￭ id tumors can arise in virtually any part of the body and are tumors that arise from cells called fi￭ bro￭ bl￭ asts which are found throughout the body and provide structural support protection to the vital organs and play a critical role in wound healing these tumors tend to occur in women in their thir￭ ties but can occur in anyone at any age they can be either relatively slow growing or m￭ align￭ ant however aggressive fi￭ bro￭ mat￭ osis is locally aggressive when they are aggressive they can cause life threatening problems or even death when they com￭ press vital organs such as intest￭ ines kidney lungs blood vessels nerves etc most cases are spor￭ adic but some are associated with famili￭ al aden￭ om￭ at￭ ous poly￭ pos￭ is f￭ ap approximately 10 of individuals with gar￭ dner s syndrome a type of f￭ ap with extra￭ colon￭ ic features have des￭ mo￭ id tumors his￭ to￭ logically they resemble very low grade fi￭ bro￭ sar￭ com￭ as but they are very locally aggressive and tend to recur even after complete res￭ ection there is a tendency for recurrence in the setting of prior surgery in one study two thirds of patients with des￭ mo￭ id tumors had a history of prior ab￭ domin￭ al surgery risk factors for des￭ mo￭ id disease amongst f￭ ap patients include female sex a 3 ap￭ c mutation a positive family history and a history of previous ab￭ domin￭ al surgery
hem￭ an￭ gi￭ obl￭ ast￭ oma
hem￭ an￭ gi￭ obl￭ ast￭ om￭ as or ha￭ eman￭ gi￭ obl￭ ast￭ om￭ as see spelling differences cap￭ il￭ li￭ ary hem￭ an￭ gi￭ obl￭ ast￭ om￭ as are tumors of the central nervous system that originate from the vascular system usually during middle age sometimes these tumors occur in other sites such as the spinal cord and re￭ tina they may be associated with other diseases such as poly￭ cy￭ them￭ ia increased blood cell count pan￭ cre￭ atic cy￭ sts and von hip￭ pel lind￭ au syndrome v￭ hl syndrome hem￭ an￭ gi￭ obl￭ ast￭ om￭ as are most commonly composed of st￭ rom￭ al cells in small blood vessels and usually occur in the cere￭ bell￭ um brain stem or spinal cord they are classed as grade one tumors under the world health organization s classification system
dys￭ plastic nev￭ us
a dys￭ plastic nev￭ us or atypical mole is a nev￭ us mole whose appearance is different from that of common mol￭ es in 1992 the nih recommended that the term dys￭ plastic nev￭ us be avoided in favor of the term atypical mole an atypical mole may also be referred to as an atypical mel￭ an￭ oc￭ y￭ tic nev￭ us atypical nev￭ us b k mole clark s nev￭ us dys￭ plastic mel￭ an￭ oc￭ y￭ tic nev￭ us or nev￭ us with architectural disorder dys￭ plastic ne￭ vi can be found anywhere but are most common on the trunk in men and on the calves in women
a dys￭ plastic nev￭ us or atypical mole is a nev￭ us mole whose appearance is different from that of common mol￭ es in 1992 the nih recommended that the term dys￭ plastic nev￭ us be avoided in favor of the term atypical mole an atypical mole may also be referred to as an atypical mel￭ an￭ oc￭ y￭ tic nev￭ us atypical nev￭ us b k mole clark s nev￭ us dys￭ plastic mel￭ an￭ oc￭ y￭ tic nev￭ us or nev￭ us with architectural disorder dys￭ plastic ne￭ vi often grow to larger than ordinary mol￭ es and may have irregular and in￭ distinct borders their color may not be uniform and may range from light pink to very dark brown they usually begin as flat but parts may raise above the skin surface see ab￭ c￭ de and ugly duc￭ kling characteristics below dys￭ plastic ne￭ vi can be found anywhere but are most common on the trunk in men and on the calves in women
iron deficiency an￭ emia
iron deficiency an￭ emia also spelled iron deficiency ana￭ emia is an￭ emia caused by a lack of iron an￭ emia is defined as a decrease in the amount of red blood cells r￭ b￭ cs or h￭ emo￭ glob￭ in in the blood when an￭ emia comes on slowly the symptoms are often vague and may include feeling tired weakness short￭ ness of breath or poor ability to exercise an￭ emia that comes on quickly often has greater symptoms which may include confusion feeling like one is going to pass out and increased thirst there needs to be significant an￭ emia before a person becomes notic￭ e￭ ably pale there may be additional symptoms depending on the underlying cause
an￭ emia
an￭ emia also spelled ana￭ emia is usually defined as a decrease in the amount of red blood cells r￭ b￭ cs or h￭ emo￭ glob￭ in in the blood it can also be defined as a lowered ability of the blood to carry oxygen when an￭ emia comes on slowly the symptoms are often vague and may include feeling tired weakness short￭ ness of breath or a poor ability to exercise an￭ emia that comes on quickly often has greater symptoms which may include confusion feeling like one is going to pass out loss of consciousness or increased thirst an￭ emia must be significant before a person becomes notic￭ e￭ ably pale additional symptoms may occur depending on the underlying cause
an￭ emia also spelled ana￭ emia is usually defined as a decrease in the amount of red blood cells r￭ b￭ cs or h￭ emo￭ glob￭ in in the blood it can also be defined as a lowered ability of the blood to carry oxygen when an￭ emia comes on slowly the symptoms are often vague and may include feeling tired weakness short￭ ness of breath or a poor ability to exercise an￭ emia that comes on quickly often has greater symptoms which may include confusion feeling like one is going to pass out loss of consciousness or increased thirst an￭ emia must be significant before a person becomes notic￭ e￭ ably pale additional symptoms may occur depending on the underlying cause there are three main types of an￭ emia that due to blood loss that due to decreased red blood cell production and that due to increased red blood cell breakdown causes of blood loss include trauma and gastro￭ intest￭ inal bleeding among others causes of decreased production include iron deficiency a lack of vitamin b 12 thal￭ ass￭ emia and a number of ne￭ op￭ las￭ ms of the bone marrow causes of increased breakdown include a number of genetic conditions such as sick￭ le cell an￭ emia infections like malaria and certain auto￭ immune diseases it can also be classified based on the size of red blood cells and amount of h￭ emo￭ glob￭ in in each cell if the cells are small it is micro￭ cy￭ tic an￭ emia if they are large it is macro￭ cy￭ tic an￭ emia while if they are normal sized it is nor￭ mo￭ cy￭ tic an￭ emia diagnosis in men is based on a h￭ emo￭ glob￭ in of less than 130 to 140 g l 13 to 14 g dl while in women it must be less than 120 to 130 g l 12 to 13 g dl further testing is then required to determine the cause certain groups of individuals such as pregnant women benefit from the use of iron pills for prevention dietary supplem￭ entation without determining the specific cause is not recommended the use of blood trans￭ fu￭ sions is typically based on a person s signs and symptoms in those without symptoms they are not recommended unless h￭ emo￭ glob￭ in levels are less than 60 to 80 g l 6 to 8 g dl these recommendations may also apply to some people with acute bleeding er￭ y￭ thro￭ po￭ ies￭ is stimulating medications are only recommended in those with severe an￭ emia an￭ emia is the most common disorder of the blood affecting about a quarter of the people globally iron deficiency an￭ emia affects nearly 1 billion in 2013 an￭ emia due to iron deficiency resulted in about 183 000 deaths – down from 213 000 deaths in 1990 it is more common in females than males among children during pregnancy and in the elderly an￭ emia increases costs of medical care and lowers a person s productivity through a decreased ability to work the name is derived from ancient greek ἀ￭ να￭ ι￭ μ￭ ία an￭ aim￭ ia meaning lack of blood from ἀ￭ ν an not α￭ ἷ￭ μα ha￭ ima blood
plum￭ mer – vin￭ son syndrome
plum￭ mer – vin￭ son syndrome p￭ vs also called pat￭ erson – brown – kelly syndrome or sid￭ er￭ open￭ ic dy￭ sp￭ ha￭ gia is a rare disease characterized by difficulty in sw￭ allowing iron deficiency an￭ emia glos￭ si￭ tis ch￭ ei￭ losis and es￭ op￭ ha￭ ge￭ al we￭ bs treatment with iron supplem￭ entation and mechanical widening of the es￭ op￭ ha￭ gus generally provides an excellent outcome
plum￭ mer – vin￭ son syndrome p￭ vs also called pat￭ erson – brown – kelly syndrome or sid￭ er￭ open￭ ic dy￭ sp￭ ha￭ gia is a rare disease characterized by difficulty in sw￭ allowing iron deficiency an￭ emia glos￭ si￭ tis ch￭ ei￭ losis and es￭ op￭ ha￭ ge￭ al we￭ bs treatment with iron supplem￭ entation and mechanical widening of the es￭ op￭ ha￭ gus generally provides an excellent outcome while exact data about the epidemiology is unknown this syndrome has become extremely rare the reduction in the prevalence of p￭ vs has been hypothe￭ sized to be the result of improvements in nutritional status and availability in countries where the syndrome was previously described it generally occurs in post￭ men￭ opa￭ usal women its identification and follow up is considered relevant due to increased risk of squ￭ am￭ ous cell carcin￭ om￭ as of the es￭ op￭ ha￭ gus and phar￭ yn￭ x
micro￭ cy￭ tic an￭ emia
micro￭ cy￭ tic ana￭ emia is any of several types of an￭ emia characterized by small red blood cells called micro￭ cy￭ tes the normal mean corp￭ us￭ cular volume abbreviated to mc￭ v on full blood count results is 80 100 fl with smaller cells 80 fl described as micro￭ cy￭ tic and larger cells 100 fl as macro￭ cy￭ tic the latter occur in macro￭ cy￭ tic an￭ emia the mc￭ v is the average red blood cell size
micro￭ cy￭ tic ana￭ emia is any of several types of an￭ emia characterized by small red blood cells called micro￭ cy￭ tes the normal mean corp￭ us￭ cular volume abbreviated to mc￭ v on full blood count results is 80 100 fl with smaller cells 80 fl described as micro￭ cy￭ tic and larger cells 100 fl as macro￭ cy￭ tic the latter occur in macro￭ cy￭ tic an￭ emia the mc￭ v is the average red blood cell size in micro￭ cy￭ tic an￭ emia the red blood cells er￭ y￭ thro￭ cy￭ tes are usually also hypo￭ ch￭ rom￭ ic meaning that the red blood cells appear pal￭ er than usual this is reflected by a lower than normal mean corp￭ us￭ cular h￭ emo￭ glob￭ in concentration m￭ ch￭ c a measure representing the amount of h￭ emo￭ glob￭ in per unit volume of fluid inside the cell normally about 320 360 g l or 32 36 g dl typically therefore an￭ emia of this category is described as micro￭ cy￭ tic hypo￭ ch￭ rom￭ ic ana￭ emia
pernicious an￭ emia
pernicious an￭ emia also known as vitamin b 12 deficiency an￭ emia is a disease in which there are not enough red blood cells due to a lack of vitamin b 12 the most common initial symptom is feeling tired other symptoms may include short￭ ness of breath pale skin chest pain num￭ b￭ ness in the hands and feet poor balance a smooth red tongue poor refl￭ exes and confusion if treatment is not provided some of these problems may become permanent
pernicious an￭ emia also known as vitamin b 12 deficiency an￭ emia is a disease in which there are not enough red blood cells due to a lack of vitamin b 12 the most common initial symptom is feeling tired other symptoms may include short￭ ness of breath pale skin chest pain num￭ b￭ ness in the hands and feet poor balance a smooth red tongue poor refl￭ exes and confusion if treatment is not provided some of these problems may become permanent although pernicious an￭ emia technically refers to cases resulting from not enough intrinsic factor it is often used to describe all cases of an￭ emia due to not enough vitamin b 12 lack of intrinsic factor is most commonly due to an auto￭ immune attack on the cells that make it in the stomach it can also occur following the surgical removal of part of the stomach or from an inherited disorder other causes of low vitamin b 12 include a poor diet ce￭ li￭ ac disease and a ta￭ pe￭ worm infection when suspected diagnosis is made by blood and occasionally bone marrow tests blood tests may show fewer but larger red blood cells low numbers of young red blood cells low levels of vitamin b 12 and antibodies to intrinsic factor pernicious an￭ emia due to lack of intrinsic factor is not preventable vitamin b 12 deficiency due to other causes may be prevented with a balanced diet or with supplements pernicious an￭ emia can be easily treated with either injections or pills of vitamin b 12 if the symptoms are severe injections are typically recommended initially for those who have trouble sw￭ allowing pills a nas￭ al spray is available often treatment is lifelong pernicious an￭ emia due to auto￭ immune problems occurs in about 1 per 1000 people among those over the age of 60 about 2 have the condition it more commonly affects people of northern european descent women are more commonly affected than men with proper treatment most people live normal lives due to a higher risk of stomach cancer those with pernicious an￭ emia should be checked regularly for this the first clear description was by thomas ad￭ dison in 18￭ 49 the term pernicious means deadly and was used as before the availability of treatment the disease was often fatal
hem￭ ol￭ y￭ tic an￭ emia
hem￭ ol￭ y￭ tic an￭ emia or ha￭ emol￭ y￭ tic ana￭ emia is a form of an￭ emia due to hem￭ ol￭ ysis the abnormal breakdown of red blood cells r￭ b￭ cs either in the blood vessels intr￭ av￭ ascular hem￭ ol￭ ysis or elsewhere in the human body extr￭ av￭ ascular it has numerous possible consequences ranging from relatively harmless to life threatening the general classification of hem￭ ol￭ y￭ tic an￭ emia is either inherited or acquired treatment depends on the cause and nature of the breakdown
glucose 6 phosphate de￭ hydro￭ gen￭ ase deficiency
glucose 6 phosphate de￭ hydro￭ gen￭ ase deficiency g 6 pd deficiency also known as fa￭ vism after the fava bean is an x linked rec￭ essive in￭ born error of metabol￭ ism that pre￭ dis￭ poses to hem￭ ol￭ ysis spontaneous destruction of red blood cells and resultant ja￭ und￭ ice in response to a number of triggers such as certain foods illness or medication it is particularly common in people of mediterranean and african origin the condition is characterized by abnormally low levels of glucose 6 phosphate de￭ hydro￭ gen￭ ase an enzyme involved in the pent￭ ose phosphate path￭ way that is especially important in the red blood cell g 6 pd deficiency is the most common human enzyme defect there is no specific treatment other than avoiding known triggers in the united states no genetic screening of prospective p￭ aren
glucose 6 phosphate de￭ hydro￭ gen￭ ase deficiency g 6 pd deficiency also known as fa￭ vism after the fava bean is an x linked rec￭ essive in￭ born error of metabol￭ ism that pre￭ dis￭ poses to hem￭ ol￭ ysis spontaneous destruction of red blood cells and resultant ja￭ und￭ ice in response to a number of triggers such as certain foods illness or medication it is particularly common in people of mediterranean and african origin the condition is characterized by abnormally low levels of glucose 6 phosphate de￭ hydro￭ gen￭ ase an enzyme involved in the pent￭ ose phosphate path￭ way that is especially important in the red blood cell g 6 pd deficiency is the most common human enzyme defect there is no specific treatment other than avoiding known triggers in the united states no genetic screening of prospective parents is recommended as the symptoms only show in part of the carriers and when that is the case they can be prevented or controlled and as a result the disease generally has no impact on the lifespan of those affected however globally g 6 pd deficiency has resulted in 4 100 deaths in 2013 and 3 400 deaths in 1990 carriers of the g 6 pd alle￭ le appear to be protected to some extent against malaria and in some cases affected males have shown complete immunity to the disease this accounts for the persistence of the alle￭ le in certain populations in that it confers a selective advantage
tri￭ o￭ se￭ phosphate isom￭ erase deficiency
tri￭ o￭ se￭ phosphate isom￭ erase deficiency is a rare auto￭ som￭ al rec￭ essive metabol￭ ic disorder which was initially described in 1965 it is a unique gly￭ col￭ y￭ tic enz￭ ym￭ opathy that is characterized by chronic ha￭ emol￭ y￭ tic ana￭ emia cardi￭ om￭ y￭ opathy suscep￭ tibility to infections severe neuro￭ logical dysfunction and in most cases death in early childhood the disease is exceptionally rare with fewer than 100 patients diagnosed worldwide
thal￭ ass￭ emia
thal￭ ass￭ emi￭ as are inherited blood disorders that can result in the abnormal formation of h￭ emo￭ glob￭ in symptoms depend on the type and can vary from none to severe often there is mild to severe an￭ emia low red blood cells an￭ emia can result in feeling tired and pale skin there may also be bone problems an enlarged sp￭ leen yel￭ low￭ ish skin dark urine and among children slow growth
thal￭ ass￭ emi￭ as are inherited blood disorders that can result in the abnormal formation of h￭ emo￭ glob￭ in symptoms depend on the type and can vary from none to severe often there is mild to severe an￭ emia low red blood cells an￭ emia can result in feeling tired and pale skin there may also be bone problems an enlarged sp￭ leen yel￭ low￭ ish skin dark urine and among children slow growth thal￭ ass￭ emi￭ as are genetic disorders inherited from a person s parents there are two main types alpha thal￭ ass￭ emia and beta thal￭ ass￭ emia the severity of alpha and beta thal￭ ass￭ emia depends on how many of the four genes for alpha glob￭ in or two genes for beta glob￭ in are missing diagnosis is typically by blood tests including a complete blood count special h￭ emo￭ glob￭ in tests and genetic tests diagnosis may occur before birth through pre￭ natal testing treatment depends on the type and severity treatment for those with more severe disease often includes regular blood trans￭ fu￭ sions iron chel￭ ation and fol￭ ic acid iron chel￭ ation may be done with defer￭ ox￭ amine or defer￭ asi￭ ro￭ x occasionally a bone marrow transplant may be an option complications may include iron overload from the trans￭ fu￭ sions with resulting heart or liver disease infections and o￭ ste￭ op￭ or￭ osis if the sp￭ leen becomes overly enlarged surgical removal may be required as of 2013 thal￭ ass￭ emia occurs in about 208 million people with about 4 7 million having severe disease it is most common among people of italian greek middle eastern south asian and african descent males and females have similar rates of disease it resulted in 25 000 deaths in 2013 down from 36 000 deaths in 1990 those who have minor degrees of thal￭ ass￭ emia similar to those with sick￭ le cell trait have some protection against malaria explaining why they are more common in regions of the world where malaria exists
alpha thal￭ ass￭ emia
alpha thal￭ ass￭ emia α thal￭ ass￭ emia α thal￭ assa￭ emia is a form of thal￭ ass￭ emia involving the genes h￭ ba 1 and h￭ ba 2 alpha thal￭ ass￭ emia is due to impaired production of alpha chains from 1 2 3 or all 4 of the alpha glob￭ in genes leading to a relative excess of beta glob￭ in chains the degree of impairment is based on which clinical phen￭ o￭ type is present how many genes are affected
sick￭ le cell disease
sick￭ le cell disease sc￭ d is a group of blood disorders typically inherited from a person s parents the most common type is known as sick￭ le cell ana￭ emia s￭ ca it results in an ab￭ normality in the oxygen carrying protein ha￭ emo￭ glob￭ in found in red blood cells this leads to a rigid sick￭ le like shape under certain circumstances problems in sick￭ le cell disease typically begin around 5 to 6 months of age a number of health problems may develop such as attacks of pain sick￭ le cell crisis an￭ emia bacterial infections and stroke long term pain may develop as people get older the average life expectancy in the developed world is 40 to 60 years
hereditary spher￭ oc￭ y￭ to￭ sis
hereditary spher￭ oc￭ y￭ to￭ sis also known as min￭ kowski – chau￭ ff￭ ard syndrome is an auto￭ som￭ al dominant ab￭ normality of er￭ y￭ thro￭ cy￭ tes the disorder is caused by mutations in genes relating to memb￭ rane proteins that allow for the er￭ y￭ thro￭ cy￭ tes to change shape the abnormal er￭ y￭ thro￭ cy￭ tes are sphere shaped spher￭ oc￭ y￭ to￭ sis rather than the normal bi￭ con￭ cave disk shaped dysfunctional memb￭ rane proteins interfere with the cell s ability to be flexible to travel from the arter￭ ies to the smaller cap￭ il￭ lar￭ ies this difference in shape also makes the red blood cells more prone to rupture cells with these dysfunctional proteins are taken for degradation at the sp￭ leen this shortage of er￭ y￭ thro￭ cy￭ tes results in hem￭ ol￭ y￭ tic an￭ emia
h￭ emo￭ glob￭ in c
h￭ emo￭ glob￭ in c abbreviated as h￭ b c or h￭ bc is an abnormal h￭ emo￭ glob￭ in in which substitution of a glu￭ tam￭ ic acid residue with a lys￭ ine residue at the 6 th position of the β glob￭ in chain has occurred e 6 k substitution
auto￭ immune hem￭ ol￭ y￭ tic an￭ emia
auto￭ immune hem￭ ol￭ y￭ tic an￭ emia or auto￭ immune ha￭ emol￭ y￭ tic ana￭ emia ai￭ ha occurs when antibodies directed against the person s own red blood cells r￭ b￭ cs cause them to burst ly￭ se leading to insufficient plasma concentration the lifetime of the r￭ b￭ cs is reduced from the normal 100 – 120 days to just a few days in serious cases the in￭ trac￭ ell￭ ular components of the r￭ b￭ cs are released into the circulating blood and into tissues leading to some of the characteristic symptoms of this condition the antibodies are usually directed against high incidence antigens therefore they also commonly act on al￭ log￭ en￭ ic r￭ b￭ cs r￭ b￭ cs originating from outside the person themselves e g in the case of a blood transfusion ai￭ ha is a relatively rare condition affecting one to three people per 100 000 per year
hem￭ ol￭ y￭ tic u￭ rem￭ ic syndrome
hem￭ ol￭ y￭ tic u￭ rem￭ ic syndrome or ha￭ emol￭ y￭ tic ur￭ a￭ emic syndrome abbreviated hus is a disease characterized by hem￭ ol￭ y￭ tic an￭ emia an￭ emia caused by destruction of red blood cells acute kidney failure u￭ re￭ mia and a low plat￭ elet count thro￭ m￭ bo￭ cy￭ top￭ enia it predominantly but not exclusively affects children most cases are preceded by an episode of infectious sometimes bloody diarr￭ hea acquired as a food￭ borne illness or from a contaminated water supply caused by e coli o 157 h 7 other non o 157 h 7 e coli sero￭ types shi￭ g￭ ella and camp￭ y￭ lob￭ ac￭ ter a variety of viruses have also been implicated as a caus￭ ative agent it is now the most common cause of acquired acute ren￭ al failure in childhood it is a medical emergency and carries a 5 – 10 mortality rate of the remainder the majority recover wit
par￭ oxy￭ sm￭ al no￭ c￭ tur￭ nal h￭ emo￭ glob￭ in￭ ur￭ ia
par￭ oxy￭ sm￭ al no￭ c￭ tur￭ nal h￭ emo￭ glob￭ in￭ ur￭ ia p￭ n￭ h is a rare acquired life threatening disease of the blood characterized by destruction of red blood cells by the complement system a part of the body s intrinsic immune system this destructive process is a result of a defect in the formation of surface proteins on the red blood cell which normally function to inhibit such immune reactions since the complement cas￭ c￭ ade attacks the red blood cells throughout the circul￭ atory system the hem￭ ol￭ ysis is considered an intr￭ av￭ ascular hem￭ ol￭ y￭ tic an￭ emia other key features of the disease notably the high incidence of thro￭ m￭ bo￭ sis are not totally understood
par￭ oxy￭ sm￭ al no￭ c￭ tur￭ nal h￭ emo￭ glob￭ in￭ ur￭ ia p￭ n￭ h is a rare acquired life threatening disease of the blood characterized by destruction of red blood cells by the complement system a part of the body s intrinsic immune system this destructive process is a result of a defect in the formation of surface proteins on the red blood cell which normally function to inhibit such immune reactions since the complement cas￭ c￭ ade attacks the red blood cells throughout the circul￭ atory system the hem￭ ol￭ ysis is considered an intr￭ av￭ ascular hem￭ ol￭ y￭ tic an￭ emia other key features of the disease notably the high incidence of thro￭ m￭ bo￭ sis are not totally understood p￭ n￭ h is the only hem￭ ol￭ y￭ tic an￭ emia caused by an acquired rather than inherited intrinsic defect in the cell memb￭ rane deficiency of gly￭ cop￭ hosp￭ h￭ ati￭ dy￭ lin￭ o￭ sit￭ ol leading to absence of protective proteins on the memb￭ rane it may develop on its own primary p￭ n￭ h or in the context of other bone marrow disorders such as ap￭ l￭ astic an￭ emia secondary p￭ n￭ h only a minority 26 have the tell￭ tale red urine in the morning that originally gave the condition its name al￭ log￭ ene￭ ic bone marrow transplantation is the only cur￭ ative therapy but has significant rates of both mortality and ongoing morbi￭ dity the mono￭ cl￭ onal anti￭ body ecu￭ li￭ z￭ um￭ ab is effective at reducing the need for blood trans￭ fu￭ sions and improving quality of life it however does not appear to change the risk of death or blood clo￭ ts and has an extremely high price with a single year of treatment costing at least 440 000
pure red cell ap￭ la￭ sia
pure red cell ap￭ la￭ sia pr￭ ca or er￭ y￭ thro￭ bl￭ ast￭ open￭ ia refers to a type of an￭ emia affecting the precursors to red blood cells but not to white blood cells in pr￭ ca the bone marrow ceases to produce red blood cells the condition has been first described by paul kaz￭ nelson in 19￭ 22
ap￭ l￭ astic an￭ emia
ap￭ l￭ astic an￭ emia is a rare disease in which the bone marrow and the hem￭ ato￭ po￭ ie￭ tic stem cells that reside there are damaged this causes a deficiency of all three blood cell types pan￭ cy￭ top￭ enia red blood cells an￭ emia white blood cells leuk￭ open￭ ia and plat￭ el￭ ets thro￭ m￭ bo￭ cy￭ top￭ enia ap￭ l￭ astic refers to inability of the stem cells to generate mature blood cells the definitive diagnosis is by bone marrow biopsy normal bone marrow has 30 – 70 blood stem cells but in ap￭ l￭ astic an￭ emia these cells are mostly gone and replaced by fat
fan￭ coni an￭ emia
fan￭ coni ana￭ emia fa is a rare genetic disease among those affected the majority develop cancer most often acute my￭ elo￭ genous leuk￭ emia and 90 develop bone marrow failure the inability to produce blood cells by age 40 about 60 – 75 of people have con￭ genital defects commonly short stature ab￭ norm￭ alities of the skin arms head eyes kidneys and ears and developmental disabilities around 75 of people have some form of endocrine problem with varying degrees of severity fa is the result of a genetic defect in a cluster of proteins responsible for dna repair
diamond – black￭ fan an￭ emia
diamond – black￭ fan an￭ emia d￭ ba also known as black￭ fan diamond an￭ emia inherited pure red cell ap￭ la￭ sia and as inherited er￭ y￭ thro￭ bl￭ ast￭ open￭ ia is a con￭ genital er￭ y￭ thro￭ id ap￭ la￭ sia that usually presents in infancy d￭ ba causes low red blood cell counts an￭ emia without substantially affecting the other blood components the plat￭ el￭ ets and the white blood cells which are usually normal this is in contrast to sh￭ wach￭ man – bo￭ dian – diamond syndrome in which the bone marrow defect results primarily in neu￭ tro￭ pen￭ ia and fan￭ coni an￭ emia where all cell lines are affected resulting in pan￭ cy￭ top￭ enia
pan￭ cy￭ top￭ enia
con￭ genital dy￭ ser￭ y￭ thro￭ po￭ ie￭ tic an￭ emia
con￭ genital dy￭ ser￭ y￭ thro￭ po￭ ie￭ tic an￭ emia c￭ da is a rare blood disorder similar to the thal￭ ass￭ emi￭ as c￭ da is one of many types of an￭ emia characterized by ineffective er￭ y￭ thro￭ po￭ ies￭ is and resulting from a decrease in the number of red blood cells r￭ b￭ cs in the body and a less than normal quantity of h￭ emo￭ glob￭ in in the blood
disseminated intr￭ av￭ ascular co￭ ag￭ ulation
disseminated intr￭ av￭ ascular co￭ ag￭ ulation d￭ ic also known as disseminated intr￭ av￭ ascular co￭ ag￭ ul￭ opathy or less commonly as consum￭ ptive co￭ ag￭ ul￭ opathy is a pathological process characterized by the widespread activation of the clo￭ tting cas￭ c￭ ade that results in the formation of blood clo￭ ts in the small blood vessels throughout the body this leads to compromise of tissue blood flow and can ultimately lead to multiple organ damage in addition as the co￭ ag￭ ulation process consumes clo￭ tting factors and plat￭ el￭ ets normal clo￭ tting is disrupted and severe bleeding can occur from various sites
disseminated intr￭ av￭ ascular co￭ ag￭ ulation d￭ ic also known as disseminated intr￭ av￭ ascular co￭ ag￭ ul￭ opathy or less commonly as consum￭ ptive co￭ ag￭ ul￭ opathy is a pathological process characterized by the widespread activation of the clo￭ tting cas￭ c￭ ade that results in the formation of blood clo￭ ts in the small blood vessels throughout the body this leads to compromise of tissue blood flow and can ultimately lead to multiple organ damage in addition as the co￭ ag￭ ulation process consumes clo￭ tting factors and plat￭ el￭ ets normal clo￭ tting is disrupted and severe bleeding can occur from various sites d￭ ic does not occur by itself but only as a complicating factor from another underlying condition usually in those with a critical illness the combination of widespread loss of tissue blood flow and simultaneous bleeding leads to an increased risk of death in addition to that posed by the underlying disease d￭ ic can be over￭ t and severe in some cases but mil￭ der and insidious in others the diagnosis of d￭ ic depends on the findings of characteristic laboratory tests and clinical background treatment is mainly geared towards the underlying condition
co￭ ag￭ ul￭ opathy
ha￭ em￭ ophi￭ lia
ha￭ em￭ ophi￭ lia also spelled hem￭ ophi￭ lia is a mostly inherited genetic disorder that imp￭ airs the body s ability to make blood clo￭ ts a process needed to stop bleeding this results in people bleeding longer after an injury easy bru￭ ising and an increased risk of bleeding inside joints or the brain those with mild disease may only have symptoms after an accident or during surgery bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches seizures or a decreased level of consciousness
von wil￭ le￭ brand disease
von wil￭ le￭ brand disease v￭ wd ˌ￭ f￭ ʌ￭ n￭ ˈ￭ v￭ ɪ￭ l￭ ᵻ￭ br￭ ɑ￭ ː￭ nt is the most common hereditary blood clo￭ tting disorder in humans an acquired form can sometimes result from other medical conditions it arises from a deficiency in the quality or quantity of von wil￭ le￭ brand factor v￭ w￭ f a mul￭ tim￭ eric protein that is required for plat￭ elet adhe￭ sion it is known to affect humans and several breeds of dogs the three forms of v￭ wd are hereditary acquired and pseudo or plat￭ elet type the three types of hereditary v￭ wd are v￭ wd type 1 v￭ wd type 2 and v￭ wd type 3 type 2 contains various sub￭ types plat￭ elet type v￭ wd is also an inherited condition
ha￭ em￭ ophi￭ lia c
ha￭ em￭ ophi￭ lia c also known as plasma thro￭ m￭ b￭ op￭ las￭ tin an￭ tec￭ ed￭ ent pta deficiency or ro￭ sen￭ th￭ al syndrome is a mild form of ha￭ em￭ ophi￭ lia affecting both sexes due to factor xi deficiency however it predominantly occurs in jewish people of ash￭ ken￭ az￭ i descent it is the fourth most common co￭ ag￭ ulation disorder after von wil￭ le￭ brand s disease and ha￭ em￭ ophi￭ lia a and b in the united states it is thought to affect 1 in 100 000 of the adult population making it 10 as common as ha￭ em￭ ophi￭ lia a
factor xiii deficiency
factor xiii deficiency occurs exceedingly rarely causing a severe bleeding tendency the incidence is one in a million to one in five million people with higher incidence in areas with cons￭ an￭ guine￭ ous marriage such as iran that has the highest global incidence of the disorder most are due to mutations in the a sub￭ unit gene located on chro￭ mo￭ some 6 p 25 p 24 this mutation is inherited in an auto￭ som￭ al rec￭ essive fashion
protein c deficiency
protein c deficiency is a rare genetic trait that pre￭ dis￭ poses to thro￭ m￭ bo￭ tic disease it was first described in 1981 the disease belongs to a group of genetic disorders known as thro￭ m￭ b￭ ophi￭ li￭ as protein c deficiency is associated with an increased incidence of ven￭ ous thro￭ m￭ bo￭ embol￭ ism relative risk 8 – 10 whereas no association with arter￭ ial thro￭ m￭ bo￭ tic disease has been found
protein s deficiency
protein s deficiency is a disorder associated with increased risk of ven￭ ous thro￭ m￭ bo￭ sis protein s a vitamin k dependent physiological anti￭ co￭ ag￭ ul￭ ant acts as a non￭ enz￭ ym￭ atic co￭ factor to activate protein c in the degradation of factor va and factor vi￭ iia decreased antigen levels or impaired function of protein s leads to decreased degradation of factor va and factor vi￭ iia and an increased propensity to ven￭ ous thro￭ m￭ bo￭ sis protein s circul￭ ates in human plasma in two forms approximately 60 percent is bound to complement component c 4 b β chain while the remaining 40 percent is free only free protein s has activated protein c co￭ factor activity
factor v le￭ iden
thro￭ m￭ b￭ ophi￭ lia
thro￭ m￭ b￭ ophi￭ lia sometimes hyper￭ co￭ ag￭ ul￭ ability or a pro￭ thro￭ m￭ bo￭ tic state is an ab￭ normality of blood co￭ ag￭ ulation that increases the risk of thro￭ m￭ bo￭ sis blood clo￭ ts in blood vessels such ab￭ norm￭ alities can be identified in 50 of people who have an episode of thro￭ m￭ bo￭ sis such as deep vein thro￭ m￭ bo￭ sis in the leg that was not provoked by other causes a significant proportion of the population has a detec￭ table ab￭ normality but most of these only develop thro￭ m￭ bo￭ sis in the presence of an additional risk factor
thro￭ m￭ b￭ ophi￭ lia sometimes hyper￭ co￭ ag￭ ul￭ ability or a pro￭ thro￭ m￭ bo￭ tic state is an ab￭ normality of blood co￭ ag￭ ulation that increases the risk of thro￭ m￭ bo￭ sis blood clo￭ ts in blood vessels such ab￭ norm￭ alities can be identified in 50 of people who have an episode of thro￭ m￭ bo￭ sis such as deep vein thro￭ m￭ bo￭ sis in the leg that was not provoked by other causes a significant proportion of the population has a detec￭ table ab￭ normality but most of these only develop thro￭ m￭ bo￭ sis in the presence of an additional risk factor there is no specific treatment for most thro￭ m￭ b￭ ophi￭ li￭ as but recurrent episodes of thro￭ m￭ bo￭ sis may be an indication for long term preventative anti￭ co￭ ag￭ ulation the first major form of thro￭ m￭ b￭ ophi￭ lia anti￭ thro￭ m￭ bin deficiency was identified in 1965 while the most common ab￭ norm￭ alities including factor v le￭ iden were described in the 1990 s
anti￭ phosp￭ holi￭ pid syndrome
anti￭ phosp￭ holi￭ pid syndrome or anti￭ phosp￭ holi￭ pid anti￭ body syndrome aps or ap￭ ls or often also hughes syndrome is an auto￭ immune hyper￭ co￭ ag￭ ul￭ able state caused by anti￭ phosp￭ holi￭ pid antibodies aps provo￭ kes blood clo￭ ts thro￭ m￭ bo￭ sis in both arter￭ ies and ve￭ ins as well as pregnancy related complications such as mis￭ carriage still￭ birth pre￭ term delivery and severe pre￭ ec￭ lam￭ p￭ sia
anti￭ phosp￭ holi￭ pid syndrome or anti￭ phosp￭ holi￭ pid anti￭ body syndrome aps or ap￭ ls or often also hughes syndrome is an auto￭ immune hyper￭ co￭ ag￭ ul￭ able state caused by anti￭ phosp￭ holi￭ pid antibodies aps provo￭ kes blood clo￭ ts thro￭ m￭ bo￭ sis in both arter￭ ies and ve￭ ins as well as pregnancy related complications such as mis￭ carriage still￭ birth pre￭ term delivery and severe pre￭ ec￭ lam￭ p￭ sia the diagnostic criteria require one clinical event i e thro￭ m￭ bo￭ sis or pregnancy complic￭ ation and two anti￭ body blood tests spac￭ ed at least three months apart that confirm the presence of either lup￭ us anti￭ co￭ ag￭ ul￭ ant or anti β 2 gly￭ co￭ protein i since β 2 gly￭ co￭ protein i antibodies are a sub￭ set of anti cardi￭ oli￭ pin antibodies an anti cardi￭ oli￭ pin ass￭ ay can be performed as a less specific proxy anti￭ phosp￭ holi￭ pid syndrome can be primary or secondary primary anti￭ phosp￭ holi￭ pid syndrome occurs in the absence of any other related disease secondary anti￭ phosp￭ holi￭ pid syndrome occurs with other auto￭ immune diseases such as systemic lup￭ us er￭ y￭ them￭ ato￭ sus s￭ le in rare cases aps leads to rapid organ failure due to generalised thro￭ m￭ bo￭ sis this is termed catastrophic anti￭ phosp￭ holi￭ pid syndrome caps and is associated with a high risk of death anti￭ phosp￭ holi￭ pid syndrome often requires treatment with anti￭ co￭ ag￭ ul￭ ant medication such as he￭ par￭ in to reduce the risk of further episodes of thro￭ m￭ bo￭ sis and improve the prog￭ no￭ sis of pregnancy war￭ far￭ in co￭ um￭ ad￭ in is not used during pregnancy because it can cross the plac￭ enta unlike he￭ par￭ in and is ter￭ ato￭ genic
pur￭ pur￭ a
pur￭ pur￭ a is a condition of red or purple dis￭ colored spots on the skin that do not blan￭ ch on applying pressure the spots are caused by bleeding underneath the skin usually secondary to vas￭ cu￭ li￭ tis or dietary deficiency of vitamin c s￭ cur￭ vy they measure 0 3 – 1 cm 3 – 10 mm whereas pe￭ tec￭ hi￭ ae measure less than 3 mm and ec￭ ch￭ y￭ moses greater than 1 cm
pur￭ pur￭ a is a condition of red or purple dis￭ colored spots on the skin that do not blan￭ ch on applying pressure the spots are caused by bleeding underneath the skin usually secondary to vas￭ cu￭ li￭ tis or dietary deficiency of vitamin c s￭ cur￭ vy they measure 0 3 – 1 cm 3 – 10 mm whereas pe￭ tec￭ hi￭ ae measure less than 3 mm and ec￭ ch￭ y￭ moses greater than 1 cm pur￭ pur￭ a is common with ty￭ ph￭ us and can be present with men￭ ing￭ i￭ tis caused by men￭ in￭ go￭ coc￭ ci or sep￭ tic￭ aemia in particular men￭ in￭ go￭ co￭ cc￭ us ne￭ is￭ ser￭ ia men￭ ing￭ i￭ ti￭ dis a gram negative diplo￭ co￭ cc￭ us organism releases endo￭ toxin when it ly￭ ses endo￭ toxin activ￭ ates the ha￭ gem￭ an factor clo￭ tting factor xii which causes disseminated intr￭ av￭ ascular co￭ ag￭ ulation d￭ ic the d￭ ic is what appears as a rash on the affected individual
glan￭ z￭ mann s thro￭ m￭ bas￭ th￭ enia
bernard – sou￭ lier syndrome
bernard – sou￭ lier syndrome b￭ ss also called hemorrha￭ gi￭ par￭ ous thro￭ m￭ bo￭ cy￭ tic dy￭ stro￭ phy is a rare auto￭ som￭ al rec￭ essive co￭ ag￭ ul￭ opathy bleeding disorder that causes a deficiency of gly￭ co￭ protein ib g￭ pi￭ b the recep￭ tor for von wil￭ le￭ brand fac￭ tor￭ the incidence of b￭ ss is estimated to be less than 1 case per million persons based on cases reported from europe north america and japan b￭ ss is a giant plat￭ elet disorder meaning that it is characterized by abnormally large plat￭ el￭ ets
evans syndrome
evans syndrome is an auto￭ immune disease in which an individual s antibodies attack their own red blood cells and plat￭ el￭ ets both of these events may occur simultaneously or one may follow on from the other the syndrome was first described in 1951 by r s evans and colleagues
immune thro￭ m￭ bo￭ cy￭ top￭ en￭ ic pur￭ pur￭ a
immune thro￭ m￭ bo￭ cy￭ top￭ enia it￭ p is a type of thro￭ m￭ bo￭ cy￭ top￭ en￭ ic pur￭ pur￭ a defined as isolated low plat￭ elet count thro￭ m￭ bo￭ cy￭ top￭ enia with normal bone marrow and the absence of other causes of thro￭ m￭ bo￭ cy￭ top￭ enia it causes a characteristic pur￭ pur￭ ic rash and an increased tendency to bleed two distinct clinical syndro￭ mes manifest as an acute condition in children and a chronic condition in adults the acute form often follows an infection and has a spontaneous resolution within two months chronic immune thro￭ m￭ bo￭ cy￭ top￭ enia persists longer than six months with a specific cause being unknown
immune thro￭ m￭ bo￭ cy￭ top￭ enia it￭ p is a type of thro￭ m￭ bo￭ cy￭ top￭ en￭ ic pur￭ pur￭ a defined as isolated low plat￭ elet count thro￭ m￭ bo￭ cy￭ top￭ enia with normal bone marrow and the absence of other causes of thro￭ m￭ bo￭ cy￭ top￭ enia it causes a characteristic pur￭ pur￭ ic rash and an increased tendency to bleed two distinct clinical syndro￭ mes manifest as an acute condition in children and a chronic condition in adults the acute form often follows an infection and has a spontaneous resolution within two months chronic immune thro￭ m￭ bo￭ cy￭ top￭ enia persists longer than six months with a specific cause being unknown it￭ p is an auto￭ immune disease with antibodies detec￭ table against several plat￭ elet surface antigens it￭ p is diagnosed by a low plat￭ elet count in a complete blood count a common blood test however since the diagnosis depends on the exclusion of other causes of a low plat￭ elet count additional investigations such as a bone marrow biopsy may be necessary in some cases in mild cases only careful observation may be required but very low counts or significant bleeding may prompt treatment with cor￭ ti￭ co￭ ster￭ oids intra￭ ven￭ ous immun￭ o￭ glob￭ ulin anti d immun￭ o￭ glob￭ ulin or immun￭ o￭ sup￭ pres￭ sive drugs refrac￭ tory it￭ p not responsive to conventional treatment may require splen￭ ec￭ tomy the surgical removal of the sp￭ leen plat￭ elet trans￭ fu￭ sions may be used in severe bleeding together with a very low count sometimes the body may compensate by making abnormally large plat￭ el￭ ets
he￭ par￭ in induced thro￭ m￭ bo￭ cy￭ top￭ enia
he￭ par￭ in induced thro￭ m￭ bo￭ cy￭ top￭ enia hit is the development of thro￭ m￭ bo￭ cy￭ top￭ enia a low plat￭ elet count due to the administration of various forms of he￭ par￭ in an anti￭ co￭ ag￭ ul￭ ant hit pre￭ dis￭ poses to thro￭ m￭ bo￭ sis the abnormal formation of blood clo￭ ts inside a blood vessel and when thro￭ m￭ bo￭ sis is identified the condition is called he￭ par￭ in induced thro￭ m￭ bo￭ cy￭ top￭ enia and thro￭ m￭ bo￭ sis hit￭ t hit is caused by the formation of abnormal antibodies that activate plat￭ el￭ ets if someone receiving he￭ par￭ in develops new or worsening thro￭ m￭ bo￭ sis or if the plat￭ elet count falls hit can be confirmed with specific blood tests
kas￭ ab￭ ach – mer￭ rit￭ t syndrome
kas￭ ab￭ ach – mer￭ rit￭ t syndrome k￭ ms also known as hem￭ an￭ gi￭ oma with thro￭ m￭ bo￭ cy￭ top￭ enia is a rare disease usually of infants in which a vascular tumor leads to decreased plat￭ elet counts and sometimes other bleeding problems which can be life threatening it is also known as hem￭ an￭ gi￭ oma thro￭ m￭ bo￭ cy￭ top￭ enia syndrome it is named after hai￭ g ha￭ ig￭ oun￭ i kas￭ ab￭ ach and kath￭ ar￭ ine kro￭ m mer￭ rit￭ t the two pedi￭ at￭ ric￭ ians who first described the condition in 1940
thro￭ m￭ bo￭ cy￭ top￭ enia
bleeding di￭ ath￭ esis
ag￭ ran￭ ul￭ oc￭ y￭ to￭ sis
ag￭ ran￭ ul￭ oc￭ y￭ to￭ sis also known as ag￭ ran￭ ul￭ osis or gran￭ ul￭ open￭ ia is an acute condition involving a severe and dangerous leuk￭ open￭ ia lowered white blood cell count most commonly of neu￭ troph￭ ils causing a neu￭ tro￭ pen￭ ia in the circulating blood it is a severe lack of one major class of infection fighting white blood cells people with this condition are at very high risk of serious infections due to their suppressed immune system
leuk￭ open￭ ia
neu￭ tro￭ pen￭ ia
neu￭ tro￭ pen￭ ia or neu￭ tro￭ pa￭ enia is an abnormally low concentration of neu￭ troph￭ ils a type of white blood cell in the blood neu￭ troph￭ ils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria bacterial fragments and immun￭ o￭ glob￭ ulin bound viruses in the blood patients with neu￭ tro￭ pen￭ ia are more susceptible to bacterial infections and without prompt medical attention the condition may become life threatening neu￭ tro￭ pen￭ ic sep￭ sis
neu￭ tro￭ pen￭ ia or neu￭ tro￭ pa￭ enia is an abnormally low concentration of neu￭ troph￭ ils a type of white blood cell in the blood neu￭ troph￭ ils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria bacterial fragments and immun￭ o￭ glob￭ ulin bound viruses in the blood patients with neu￭ tro￭ pen￭ ia are more susceptible to bacterial infections and without prompt medical attention the condition may become life threatening neu￭ tro￭ pen￭ ic sep￭ sis neu￭ tro￭ pen￭ ia can be acute temporary or chronic long lasting the term is sometimes used inter￭ change￭ ably with leuk￭ open￭ ia deficit in the number of white blood cells
kost￭ mann syndrome
kost￭ mann syndrome is a group of diseases that affect my￭ elo￭ po￭ ies￭ is causing a con￭ genital form of neu￭ tro￭ pen￭ ia severe con￭ genital neu￭ tro￭ pen￭ ia s￭ cn usually without other physical mal￭ formations s￭ cn manifests in infancy with life threatening bacterial infections kost￭ mann disease s￭ cn 3 the initial subtype recognized was clin￭ ically described in 1956 this type has an auto￭ som￭ al rec￭ essive inheritance pattern whereas the most common subtype of kost￭ mann syndrome s￭ cn 1 shows auto￭ som￭ al dominant inheritance
kost￭ mann syndrome is a group of diseases that affect my￭ elo￭ po￭ ies￭ is causing a con￭ genital form of neu￭ tro￭ pen￭ ia severe con￭ genital neu￭ tro￭ pen￭ ia s￭ cn usually without other physical mal￭ formations s￭ cn manifests in infancy with life threatening bacterial infections most cases of s￭ cn responds to treatment with gran￭ ul￭ oc￭ y￭ te colony stimulating factor fil￭ gras￭ tim which increases the neu￭ tro￭ phil count and decreases the severity and frequency of infections although this treatment has significantly improved survival people with s￭ cn are at risk of long term complications such as hem￭ ato￭ po￭ ie￭ tic cl￭ onal disorders my￭ el￭ odys￭ plastic syndrome acute my￭ elo￭ id leuk￭ emia kost￭ mann disease s￭ cn 3 the initial subtype recognized was clin￭ ically described in 1956 this type has an auto￭ som￭ al rec￭ essive inheritance pattern whereas the most common subtype of kost￭ mann syndrome s￭ cn 1 shows auto￭ som￭ al dominant inheritance
chronic gran￭ ul￭ om￭ at￭ ous disease
chronic gran￭ ul￭ om￭ at￭ ous disease c￭ g￭ d also known as bridges – good syndrome chronic gran￭ ul￭ om￭ at￭ ous disorder and qu￭ ie syndrome is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds most importantly the super￭ oxide radical due to defective p￭ ha￭ go￭ cy￭ te nad￭ ph oxid￭ ase used to kill certain ing￭ ested pathogens this leads to the formation of gran￭ ul￭ om￭ ata in many organs c￭ g￭ d affects about 1 in 200 000 people in the united states with about 20 new cases diagnosed each year
chronic gran￭ ul￭ om￭ at￭ ous disease c￭ g￭ d also known as bridges – good syndrome chronic gran￭ ul￭ om￭ at￭ ous disorder and qu￭ ie syndrome is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds most importantly the super￭ oxide radical due to defective p￭ ha￭ go￭ cy￭ te nad￭ ph oxid￭ ase used to kill certain ing￭ ested pathogens this leads to the formation of gran￭ ul￭ om￭ ata in many organs c￭ g￭ d affects about 1 in 200 000 people in the united states with about 20 new cases diagnosed each year this condition was first discovered in 1950 in a series of 4 boys from min￭ nes￭ ota and in 1957 was named a fatal gran￭ ul￭ om￭ ato￭ sus of childhood in a publication describing their disease the underlying cellular mechanism that causes chronic gran￭ ul￭ om￭ at￭ ous disease was discovered in 1967 and research since that time has further elu￭ ci￭ dated the molecular mechanisms underlying the disease bernard bab￭ ior made key contributions in linking the defect of super￭ oxide production of white blood cells to the eti￭ ology of the disease in 1986 the x linked form of c￭ g￭ d was the first disease for which posi￭ tional cloning was used to identify the underlying genetic mutation
brain tumor
a brain tumor or in￭ trac￭ ran￭ ial ne￭ op￭ las￭ m occurs when abnormal cells form within the brain there are two main types of tumors m￭ align￭ ant or can￭ cer￭ ous tumors and benign tumors can￭ cer￭ ous tumors can be divided into primary tumors that start within the brain and secondary tumors that have spread from somewhere else known as brain me￭ tast￭ asis tumors all types of brain tumors may produce symptoms that vary depending on the part of the brain involved these symptoms may include headaches seizures problem with vision v￭ om￭ iting and mental changes the headache is class￭ ically worse in the morning and goes away with v￭ om￭ iting more specific problems may include difficulty in walking speaking and with sensation as the disease progres￭ ses un￭ consciousness may occur
a brain tumor or in￭ trac￭ ran￭ ial ne￭ op￭ las￭ m occurs when abnormal cells form within the brain there are two main types of tumors m￭ align￭ ant or can￭ cer￭ ous tumors and benign tumors can￭ cer￭ ous tumors can be divided into primary tumors that start within the brain and secondary tumors that have spread from somewhere else known as brain me￭ tast￭ asis tumors all types of brain tumors may produce symptoms that vary depending on the part of the brain involved these symptoms may include headaches seizures problem with vision v￭ om￭ iting and mental changes the headache is class￭ ically worse in the morning and goes away with v￭ om￭ iting more specific problems may include difficulty in walking speaking and with sensation as the disease progres￭ ses un￭ consciousness may occur the cause of most brain tumors is unknown un￭ common risk factors include inherited neuro￭ fi￭ bro￭ mat￭ osis exposure to vinyl chloride ep￭ stein – bar￭ r virus and ionizing radiation the evidence for mobile phones is not clear the most common types of primary tumors in adults are men￭ ing￭ i￭ om￭ as usually benign and astro￭ cy￭ tom￭ as such as gli￭ obl￭ ast￭ om￭ as in children the most common type is a m￭ align￭ ant med￭ ul￭ lo￭ bl￭ ast￭ oma diagnosis is usually by medical examination along with compu￭ ted tom￭ o￭ graphy or magnetic resonance imaging this is then often confirmed by a biopsy based on the findings the tumors are divided into different grades of severity treatment may include some combination of surgery radiation therapy and chem￭ otherapy anti￭ con￭ vul￭ sant medication may be needed if seizures occur d￭ exam￭ eth￭ as￭ one and fu￭ ro￭ sem￭ ide may be used to decrease sw￭ elling around the tumor some tumors grow gradually requiring only monitoring and possibly needing no further intervention treatments that use a person s immune system are being studied outcome varies considerably depending on the type of tumor and how far it has spread at diagnosis gli￭ obl￭ ast￭ om￭ as usually have poor outcomes while men￭ ing￭ i￭ om￭ as usually have good outcomes the average five year survival rate for brain cancer in the united states is 33 secondary or me￭ ta￭ static brain tumors are more common than primary brain tumors with about half of me￭ tast￭ ases coming from lung cancer primary brain tumors occur in around 250 000 people a year globally making up less than 2 of cancers in children younger than 15 brain tumors are second only to acute lymp￭ ho￭ bl￭ astic leuk￭ emia as a cause of cancer in australia the average economic cost of a case of brain cancer is 1 9 million the greatest of any type of cancer
pel￭ ger – hu￭ et anomaly
may – he￭ gg￭ lin anomaly
may – he￭ gg￭ lin anomaly m￭ ha also known as do￭ hle leuk￭ oc￭ y￭ te inclu￭ sions with giant plat￭ el￭ ets and macro￭ thro￭ m￭ bo￭ cy￭ top￭ enia with leuk￭ oc￭ y￭ te inclu￭ sions is a rare genetic disorder of the blood plat￭ el￭ ets that causes them to be abnormally large
e￭ o￭ sin￭ ophi￭ lia
e￭ o￭ sin￭ ophi￭ lia is a condition in which the e￭ o￭ sin￭ ophi￭ l count in the peripheral blood exceeds 4 5 × 108 l 450 µ￭ l e￭ o￭ sin￭ oph￭ ils usually account for less than 7 of the circulating leuk￭ oc￭ y￭ tes a marked increase in non blood tissue e￭ o￭ sin￭ ophi￭ l count noticed upon hist￭ opath￭ o￭ logic examination is diagnostic for tissue e￭ o￭ sin￭ ophi￭ lia several causes are known with the most common being some form of allergic reaction or par￭ asi￭ tic infection diagnosis of e￭ o￭ sin￭ ophi￭ lia is via a complete blood count c￭ bc but diagnostic procedures directed at the underlying cause vary depending on the suspected condition s an absolute e￭ o￭ sin￭ ophi￭ l count is not generally needed if the c￭ bc shows marked e￭ o￭ sin￭ ophi￭ lia the location of the causal factor can be used to classify e￭ o￭ sin￭ ophi￭ lia into two general types extr￭ ins￭ ic in wh￭ i
hyper￭ e￭ o￭ sin￭ oph￭ il￭ ic syndrome
the hyper￭ e￭ o￭ sin￭ oph￭ il￭ ic syndrome hes is a disease characterized by a persistently elevated e￭ o￭ sin￭ ophi￭ l count ≥ 1500 e￭ o￭ sin￭ oph￭ ils mm ³ in the blood for at least six months without any recogniz￭ able cause with involvement of either the heart nervous system or bone marrow hes is a diagnosis of exclusion after cl￭ onal e￭ o￭ sin￭ ophi￭ lia such as leuk￭ emia and reactive e￭ o￭ sin￭ ophi￭ lia in response to infection auto￭ immune disease at￭ op￭ y hypo￭ adren￭ alism tropical e￭ o￭ sin￭ ophi￭ lia or cancer have been ruled out
leuk￭ oc￭ y￭ to￭ sis
leuk￭ oc￭ y￭ to￭ sis is white cells the leuk￭ oc￭ y￭ te count above the normal range in the blood it is frequently a sign of an infl￭ am￭ matory response most commonly the result of infection but may also occur following certain par￭ asi￭ tic infections or bone tumors it may also occur after stren￭ uous exercise con￭ vul￭ sions such as epi￭ le￭ psy emotional stress pregnancy and labour an￭ esthesia and ep￭ in￭ eph￭ rine administration there are five principal types of leuk￭ oc￭ y￭ to￭ sis 1 neu￭ tro￭ phi￭ lia the most common form 2 lymp￭ ho￭ cy￭ to￭ sis 3 mon￭ oc￭ y￭ to￭ sis 4 e￭ o￭ sin￭ ophi￭ lia 5 bas￭ ophi￭ lia
leuk￭ oc￭ y￭ to￭ sis is white cells the leuk￭ oc￭ y￭ te count above the normal range in the blood it is frequently a sign of an infl￭ am￭ matory response most commonly the result of infection but may also occur following certain par￭ asi￭ tic infections or bone tumors it may also occur after stren￭ uous exercise con￭ vul￭ sions such as epi￭ le￭ psy emotional stress pregnancy and labour an￭ esthesia and ep￭ in￭ eph￭ rine administration there are five principal types of leuk￭ oc￭ y￭ to￭ sis 1 neu￭ tro￭ phi￭ lia the most common form 2 lymp￭ ho￭ cy￭ to￭ sis 3 mon￭ oc￭ y￭ to￭ sis 4 e￭ o￭ sin￭ ophi￭ lia 5 bas￭ ophi￭ lia this increase in leuk￭ oc￭ y￭ te primarily neu￭ troph￭ ils is usually accompanied by a left shift in the ratio of immature to mature neu￭ troph￭ ils the proportion of immature leuk￭ oc￭ y￭ tes increases due to proliferation and release of gran￭ ul￭ oc￭ y￭ te and mon￭ oc￭ y￭ te precursors in the bone marrow which is stimulated by several products of infl￭ amm￭ ation including c 3 a and g c￭ sf although it may indicate illness leuk￭ oc￭ y￭ to￭ sis is considered a laboratory finding instead of a separate disease this classification is similar to that of fever which is also a test result instead of a disease right shift in the ratio of immature to mature neu￭ troph￭ ils is considered with reduced count or lack of young neu￭ troph￭ ils met￭ am￭ yel￭ oc￭ y￭ tes and band neu￭ troph￭ ils in blood sme￭ ar associated with the presence of giant neu￭ troph￭ ils this fact shows suppression of bone marrow activity as a hem￭ at￭ ological sign specific for pernicious an￭ emia and radiation sickness a leuk￭ oc￭ y￭ te count above 25 to 30 x 109 l is termed a leuk￭ emo￭ id reaction which is the reaction of a healthy bone marrow to extreme stress trauma or infection it is different from leuk￭ emia and from leuko￭ er￭ y￭ thro￭ bl￭ ast￭ osis in which either immature white blood cells acute leuk￭ emia or mature yet non functional white blood cells chronic leuk￭ emia are present in peripheral blood
lymp￭ ho￭ cy￭ to￭ sis
lymp￭ ho￭ cy￭ to￭ sis is an increase in the number of lymp￭ ho￭ cy￭ tes in the blood in adults lymp￭ ho￭ cy￭ to￭ sis is present when the lymp￭ ho￭ cy￭ te count is greater than 4000 per micro￭ lit￭ er 4 0 x 10 9 l in older children greater than 7000 per micro￭ lit￭ er and in infants greater than 9000 per micro￭ lit￭ er lymp￭ ho￭ cy￭ tes normally represent 20 to 40 of circulating white blood cells
lymp￭ ho￭ cy￭ to￭ sis is an increase in the number of lymp￭ ho￭ cy￭ tes in the blood in adults lymp￭ ho￭ cy￭ to￭ sis is present when the lymp￭ ho￭ cy￭ te count is greater than 4000 per micro￭ lit￭ er 4 0 x 10 9 l in older children greater than 7000 per micro￭ lit￭ er and in infants greater than 9000 per micro￭ lit￭ er lymp￭ ho￭ cy￭ tes normally represent 20 to 40 of circulating white blood cells lymp￭ ho￭ cy￭ to￭ sis is usually detected when a complete blood count is obtained if not provided the lymp￭ ho￭ cy￭ te count can be calculated by multiplying the total white blood cell w￭ bc count by the percentage of lymp￭ ho￭ cy￭ tes found in the differential count the lymp￭ ho￭ cy￭ te count can also be directly measured by flow cy￭ tom￭ e￭ try
mon￭ oc￭ y￭ to￭ sis
as￭ plen￭ ia
as￭ plen￭ ia refers to the absence of normal sp￭ leen function and is associated with some serious infection risks hy￭ pos￭ plen￭ ism is used to describe reduced hy￭ po splen￭ ic functioning but not as severely affected as with as￭ plen￭ ism
splen￭ ic inf￭ arc￭ tion
splen￭ ic inf￭ arc￭ tion is a condition in which oxygen supply to the sp￭ leen is interrupted leading to partial or complete inf￭ arc￭ tion tissue death due to oxygen shortage in the organ splen￭ ic inf￭ arc￭ tion occurs when the splen￭ ic artery or one of its branches are oc￭ clu￭ ded for example by a blood clo￭ t although it can occur as￭ ymp￭ tom￭ atically the typical symptom is severe pain in the left upper quad￭ rant of the ab￭ dom￭ en sometimes radi￭ ating to the left shoulder fever and ch￭ ills develop in some cases it has to be differentiated from other causes of acute ab￭ dom￭ en
meth￭ emo￭ glob￭ in￭ emia
meth￭ emo￭ glob￭ in￭ emia or meth￭ a￭ emo￭ glob￭ in￭ aemia is a disorder characterized by the presence of a higher than normal level of meth￭ emo￭ glob￭ in meth￭ b i e fer￭ ric fe 3 rather than fer￭ rous fe 2 ha￭ emo￭ glob￭ in in the blood meth￭ emo￭ glob￭ in is a form of h￭ emo￭ glob￭ in that contains fer￭ ric fe 3 iron and has a decreased ability to bind oxygen however the fer￭ rous iron has an increased aff￭ inity for bound oxygen the binding of oxygen to meth￭ emo￭ glob￭ in results in an increased aff￭ inity of oxygen to the three other hem￭ e sites that are still fer￭ rous within the same tetr￭ amer￭ ic h￭ emo￭ glob￭ in unit this leads to an overall reduced ability of the red blood cell to release oxygen to tissues with the associated oxygen – h￭ emo￭ glob￭ in dissoci￭ ation curve therefore shifted to the left when meth￭ emo￭ glob￭ in concentration is e
sul￭ f￭ h￭ emo￭ glob￭ in￭ emia
sul￭ f￭ h￭ emo￭ glob￭ in￭ emia or sul￭ f￭ ha￭ emo￭ glob￭ in￭ aemia is a rare condition in which there is excess sul￭ f￭ h￭ emo￭ glob￭ in sul￭ f￭ h￭ b in the blood the pig￭ ment is a green￭ ish derivative of h￭ emo￭ glob￭ in which cannot be converted back to normal functional h￭ emo￭ glob￭ in it causes cyan￭ osis even at low blood levels it is a rare blood condition that occurs when a sul￭ fur atom is incorporated into the h￭ emo￭ glob￭ in mol￭ ecu￭ le when hydrogen sul￭ fide h 2 s or sul￭ fide ions and fer￭ ric ions combine in the blood the blood is incapable of carrying oxygen
poly￭ cy￭ them￭ ia
poly￭ cy￭ them￭ ia also known as poly￭ cy￭ th￭ aemia or poly￭ glo￭ bu￭ lia is a disease state in which the proportion of blood volume that is occupied by red blood cells increases blood volume proportions can be measured as hem￭ ato￭ cr￭ it level a hem￭ ato￭ cr￭ it of 55 is seen in poly￭ cy￭ them￭ ia
essential thro￭ m￭ bo￭ cy￭ to￭ sis
essential thro￭ m￭ bo￭ cy￭ to￭ sis et also known as essential thro￭ m￭ bo￭ cy￭ them￭ ia essential thro￭ m￭ bo￭ cy￭ th￭ aemia primary thro￭ m￭ bo￭ cy￭ to￭ sis is a rare chronic blood disorder characterised by the overproduction of plat￭ el￭ ets by meg￭ ak￭ ar￭ y￭ oc￭ y￭ tes in the bone marrow it may albeit rarely develop into acute my￭ elo￭ id leuk￭ aemia or my￭ elo￭ fi￭ bro￭ sis it is one of four my￭ elo￭ prolifer￭ ative disorders disorders characterised by increased production of a particular line of blood cell
bas￭ ophi￭ lia
macro￭ cy￭ to￭ sis
hem￭ op￭ ha￭ go￭ cy￭ tic lymp￭ ho￭ his￭ ti￭ oc￭ y￭ to￭ sis
hem￭ op￭ ha￭ go￭ cy￭ tic lymp￭ ho￭ his￭ ti￭ oc￭ y￭ to￭ sis hl￭ h also known as ha￭ em￭ op￭ ha￭ go￭ cy￭ tic lymp￭ ho￭ his￭ ti￭ oc￭ y￭ to￭ sis british spelling and hem￭ op￭ ha￭ go￭ cy￭ tic or ha￭ em￭ op￭ ha￭ go￭ cy￭ tic syndrome is an un￭ common hem￭ ato￭ logic disorder it is a life threatening disease of severe hyper￭ infl￭ amm￭ ation caused by uncontrolled proliferation of activated lymp￭ ho￭ cy￭ tes and macro￭ p￭ ha￭ ges characterised by proliferation of mor￭ pho￭ logically benign lymp￭ ho￭ cy￭ tes and macro￭ p￭ ha￭ ges that secre￭ te high amounts of infl￭ am￭ matory cy￭ to￭ k￭ ines it is classified as one of the cy￭ to￭ k￭ ine storm syndro￭ mes
ro￭ sa￭ i – dor￭ f￭ man disease
ro￭ sa￭ i – dor￭ f￭ man disease also known as sin￭ us his￭ ti￭ oc￭ y￭ to￭ sis with massive lymp￭ had￭ en￭ opathy is a rare disorder of unknown eti￭ ology that is characterized by abundant his￭ ti￭ oc￭ y￭ tes in the lymp￭ h no￭ des throughout the body
x linked ag￭ am￭ mag￭ lob￭ ul￭ in￭ emia
x linked ag￭ am￭ mag￭ lob￭ ul￭ in￭ emia also called x linked hypo￭ gam￭ mag￭ lob￭ ul￭ in￭ emia x￭ la bru￭ ton type ag￭ am￭ mag￭ lob￭ ul￭ in￭ emia bru￭ ton syndrome or sex linked ag￭ am￭ mag￭ lob￭ ul￭ in￭ emia is a rare x linked genetic disorder discovered in 1952 that affects the body s ability to fight infection x￭ la is an x linked disorder and therefore is much more common in males x￭ la patients do not generate mature b cells which manifests as a complete lack of antibodies in their blood￭ stream b cells are part of the immune system and normally manufacture antibodies called immun￭ o￭ glob￭ ul￭ ins which defend the body from infections by sustaining an immun￭ ological hu￭ moral anti￭ body response patients with untreated x￭ la are prone to develop serious and even fatal infections a mutation occurs at the bru￭ ton s ty￭ ros￭ ine kin￭ ase b￭ t￭ k gene th
selective immun￭ o￭ glob￭ ulin a deficiency
selective immun￭ o￭ glob￭ ulin a ig￭ a deficiency sig￭ ad is a genetic immun￭ o￭ deficiency people with this deficiency lack immun￭ o￭ glob￭ ulin a ig￭ a a type of anti￭ body that protects against infections of the mu￭ co￭ us memb￭ ran￭ es lining the mouth airways and dig￭ estive tract it is defined as an un￭ detec￭ table serum ig￭ a level in the presence of normal serum levels of ig￭ g and ig￭ m it is the most common of the primary anti￭ body deficiencies
hyper ig￭ m syndrome type 1
hyper ig￭ m syndrome type 1 hi￭ gm 1 is the x linked variant of the hyper ig￭ m syndrome the affected individuals are virtually always male because males only have one x chro￭ mo￭ some received from their mothers their mothers are not symptomatic even though they are carriers of the alle￭ le because the trait is rec￭ essive male offspring of these women have a 50 chance of inher￭ iting their mother s mut￭ ant alle￭ le
hyper ig￭ m syndrome
hyper ig￭ m syndro￭ mes is a group of primary immune deficiency disorders characterized by defective cd 40 sign￭ aling by b cells affecting class switch re￭ combination and som￭ atic hyper￭ mutation immun￭ o￭ glob￭ ulin ig class switch re￭ combination deficiencies csr ds which were previously named dys￭ gam￭ mag￭ lob￭ ul￭ in￭ emia and then hyper ig￭ m syndro￭ mes are characterized by elevated or sometimes normal serum immun￭ o￭ glob￭ ulin m ig￭ m levels and a considerable decrease in or the absence of immun￭ o￭ glob￭ ulin g ig￭ g immun￭ o￭ glob￭ ulin a ig￭ a and immun￭ o￭ glob￭ ulin e i￭ ge – suggesting defective csr as a consequence patients with hi￭ gm have decreased concentrations of serum ig￭ g and ig￭ a and normal or elevated ig￭ m leading to increased suscep￭ tibility to infections the most common hi￭ gm syndrome is x linked and due to
hyper ig￭ m syndrome type 3
hyper ig￭ m syndrome type 3 is a form of hyper ig￭ m syndrome characterized by mutations of the cd 40 gene in this type immature b cells cannot receive signal 2 from hel￭ per t cells which is necessary to mature into mature b cells
hyper ig￭ m syndrome type 4
hyper ig￭ m syndrome type 4 is a form of hyper ig￭ m syndrome which is a defect in class switch re￭ combination downstream of the a￭ ic￭ da gene that does not impair som￭ atic hyper￭ mutation
severe combined immun￭ o￭ deficiency
severe combined immun￭ o￭ deficiency sci￭ d also known as al￭ ymp￭ ho￭ cy￭ to￭ sis glan￭ z￭ mann – r￭ ini￭ ker syndrome severe mixed immun￭ o￭ deficiency syndrome and th￭ ym￭ ic al￭ ymp￭ hop￭ la￭ sia is an extremely rare genetic disorder characterized by the disturbed development of functional t cells and b cells caused by numerous genetic mutations that result in heterogeneous clinical presentations sci￭ d involves defective anti￭ body response due to either direct involvement with b lymp￭ ho￭ cy￭ tes or through improper b lymp￭ ho￭ cy￭ te activation due to non functional t hel￭ per cells consequently both arms b cells and t cells of the adap￭ tive immune system are impaired due to a defect in one of several possible genes sci￭ d is the most severe form of primary immun￭ o￭ deficiencies and there are now at least nine different known genes
severe combined immun￭ o￭ deficiency sci￭ d also known as al￭ ymp￭ ho￭ cy￭ to￭ sis glan￭ z￭ mann – r￭ ini￭ ker syndrome severe mixed immun￭ o￭ deficiency syndrome and th￭ ym￭ ic al￭ ymp￭ hop￭ la￭ sia is an extremely rare genetic disorder characterized by the disturbed development of functional t cells and b cells caused by numerous genetic mutations that result in heterogeneous clinical presentations sci￭ d involves defective anti￭ body response due to either direct involvement with b lymp￭ ho￭ cy￭ tes or through improper b lymp￭ ho￭ cy￭ te activation due to non functional t hel￭ per cells consequently both arms b cells and t cells of the adap￭ tive immune system are impaired due to a defect in one of several possible genes sci￭ d is the most severe form of primary immun￭ o￭ deficiencies and there are now at least nine different known genes in which mutations lead to a form of sci￭ d it is also known as the bubble baby disease and bubble boy disease because its victims are extremely vulnerable to infectious diseases and some of them such as david ve￭ tter have become famous for living in a sterile environment sci￭ d is the result of an immune system so highly compromised that it is considered almost absent sci￭ d patients are usually affected by severe bacterial viral or fun￭ gal infections early in life and often present with inter￭ sti￭ tial lung disease chronic diarr￭ hea and failure to thrive ear infections recurrent pneu￭ mo￭ cy￭ stis ji￭ ro￭ vec￭ ii previously car￭ ini￭ i pneumonia and prof￭ use oral candi￭ di￭ asis commonly occur these babies if untreated usually die within 1 year due to severe recurrent infections unless they have undergone successful hem￭ ato￭ po￭ ie￭ tic stem cell transplantation
x linked severe combined immun￭ o￭ deficiency
wis￭ ko￭ tt – al￭ drich syndrome
wis￭ ko￭ tt – al￭ drich syndrome was is a rare x linked rec￭ essive disease characterized by ecz￭ ema thro￭ m￭ bo￭ cy￭ top￭ enia low plat￭ elet count immune deficiency and bloody diarr￭ hea secondary to the thro￭ m￭ bo￭ cy￭ top￭ enia it is also sometimes called the ecz￭ ema thro￭ m￭ bo￭ cy￭ top￭ enia immun￭ o￭ deficiency syndrome in keeping with al￭ drich s original description in 1954 the was related disorders of x linked thro￭ m￭ bo￭ cy￭ top￭ enia x￭ lt and x linked con￭ genital neu￭ tro￭ pen￭ ia x￭ ln may present similar but less severe symptoms and are caused by mutations of the same gene
di￭ george syndrome
di￭ george syndrome also known as 22 q 11 2 deletion syndrome is a syndrome caused by the deletion of a small segment of chro￭ mo￭ some 22 di￭ george syndrome is the most common micro￭ deletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chro￭ mo￭ some at a location designated 22 q 11 2 — signi￭ fying its location on the long arm of one of the pair of chro￭ mo￭ som￭ es 22 on region 1 band 1 sub band 2 the inheritance pattern is auto￭ som￭ al dominant and it has a prevalence estimated at 1 4000 the syndrome was described in 1968 by the pedi￭ atric endocr￭ ino￭ logist angel￭ o di￭ george 22 q 11 deletion is also associated with trun￭ cus arter￭ io￭ sus and tetr￭ alo￭ gy of fal￭ lot
x linked lymp￭ ho￭ prolifer￭ ative disease
x linked lymp￭ ho￭ prolifer￭ ative disease also known as dun￭ can s disease or pur￭ ti￭ lo syndrome is a lymp￭ ho￭ prolifer￭ ative disorder
hyper￭ immun￭ o￭ glob￭ ulin e syndrome
hyper￭ immun￭ o￭ glob￭ ul￭ in￭ emia e syndrome h￭ ies of which the auto￭ som￭ al dominant form is called job s syndrome or buck￭ ley syndrome is a heterogeneous group of immune disorders
common variable immun￭ o￭ deficiency
common variable immun￭ o￭ deficiency c￭ vi￭ d is an immune disorder characterized by recurrent infections and low anti￭ body levels specifically in immun￭ o￭ glob￭ ulin ig types ig￭ g ig￭ m and ig￭ a generally symptoms include high suscep￭ tibility to foreign inv￭ aders chronic lung disease and infl￭ amm￭ ation and infection of the gastro￭ intest￭ inal tract however symptoms vary greatly between people c￭ vi￭ d is a lifelong disease
common variable immun￭ o￭ deficiency c￭ vi￭ d is an immune disorder characterized by recurrent infections and low anti￭ body levels specifically in immun￭ o￭ glob￭ ulin ig types ig￭ g ig￭ m and ig￭ a generally symptoms include high suscep￭ tibility to foreign inv￭ aders chronic lung disease and infl￭ amm￭ ation and infection of the gastro￭ intest￭ inal tract however symptoms vary greatly between people c￭ vi￭ d is a lifelong disease the origins of c￭ vi￭ d is poorly understood current research points to dele￭ tions in particular genetic mark￭ ers en￭ coding cell surface proteins and cy￭ to￭ k￭ ine recep￭ tors such as cd 19 cd 20 cd 21 and cd 80 as a likely cause a deletion is a mutation in which part of the chro￭ mo￭ some is lost during dna replic￭ ation additionally the disease is defined by t cell defects namely reduced prolifer￭ ative capacity the disease is hard to diagnose taking on average 6 – 7 years after onset c￭ vi￭ d is a primary immun￭ o￭ deficiency treatment options are limited and usually include lifelong immun￭ o￭ glob￭ ulin replacement therapy this therapy is thought to help reduce bacterial infections this treatment alone is not wholly effective and many people still experience other symptoms like lung disease and non￭ infectious infl￭ am￭ matory symptoms c￭ vi￭ d was first diagnosed over 60 years ago and since has emerged as the predominant class of primary anti￭ body deficiencies c￭ vi￭ d is formally diagnosed by levels of ig￭ g and ig￭ a more than two standard deviations from the norm and no other cause for hypo￭ gam￭ mag￭ lob￭ ul￭ in￭ emia an abnormally low level of immun￭ o￭ glob￭ ul￭ ins in the blood it is thought to affect between 1 in 25 000 to 1 in 50 000 people worldwide
hereditary an￭ gi￭ oe￭ dem￭ a
hereditary an￭ gi￭ oe￭ dem￭ a ha￭ e is a rare auto￭ som￭ al domin￭ antly inherited blood disorder that causes ep￭ is￭ od￭ ic attacks of sw￭ elling that may affect the face extre￭ mi￭ ties gen￭ itals gastro￭ intest￭ inal tract and upper airways in this form of an￭ gi￭ oe￭ dem￭ a sw￭ ell￭ ings of the intest￭ inal mu￭ co￭ us memb￭ rane may lead to v￭ om￭ iting and painful col￭ ic like intest￭ inal sp￭ as￭ ms that may mim￭ ic intest￭ inal obstruction air￭ way e￭ dem￭ a may be life threatening episodes may be triggered by trauma surgery dental work men￭ str￭ uation some medications viral illness and stress however this is not always readily determined this disorder affects approximately one in 10 000 – 50 000 people
an￭ gi￭ oe￭ dem￭ a
immun￭ o￭ deficiency
immun￭ o￭ deficiency or immune deficiency is a state in which the immune system s ability to fight infectious disease is compromised or entirely absent most cases of immun￭ o￭ deficiency are acquired secondary due to extr￭ ins￭ ic factors that affect the patient s immune system examples of these extr￭ ins￭ ic factors include infections such as by human immun￭ o￭ deficiency virus hiv extremes of age and environmental factors such as nutrition in the clinical setting the immun￭ o suppression quality of some drugs such as ster￭ oids can be utilised examples of such use is in transplant surgery as an anti rejection measure and in patients suffering from an over active immune system some people are born with defects in their immune system or primary immun￭ o￭ deficiency a person who has an immun￭ o￭ de￭ fic
auto￭ immune disease
an auto￭ immune disease is a condition arising from an abnormal immune response to a normal body part there are at least 80 types of auto￭ immune diseases nearly any body part can be involved commons symptoms include low grade fever and feeling tired often symptoms come and go treatment depends on the type and severity of the condition non￭ ster￭ o￭ idal anti infl￭ am￭ matory drugs n￭ s￭ aids and immun￭ o￭ sup￭ pres￭ s￭ ants are often used intra￭ ven￭ ous immun￭ o￭ glob￭ ulin may also occasionally be used while treatment usually improves symptoms they do not typically cure the disease
sar￭ co￭ ido￭ sis
sar￭ co￭ ido￭ sis is a disease involving abnormal collections of infl￭ am￭ matory cells that form lum￭ ps known as gran￭ ul￭ om￭ as the disease usually begins in the lungs skin or lymp￭ h no￭ des less commonly affected are the eyes liver heart and brain any organ however can be affected the signs and symptoms depend on the organ involved often there are no or only mild symptoms when it affects the lungs there may be whe￭ e￭ zing cough short￭ ness of breath or chest pain some may have lo￭ f￭ gre￭ n s syndrome in which there is fever large lymp￭ h no￭ des ar￭ thri￭ tis and a rash known as er￭ y￭ them￭ a no￭ do￭ sum
sar￭ co￭ ido￭ sis is a disease involving abnormal collections of infl￭ am￭ matory cells that form lum￭ ps known as gran￭ ul￭ om￭ as the disease usually begins in the lungs skin or lymp￭ h no￭ des less commonly affected are the eyes liver heart and brain any organ however can be affected the signs and symptoms depend on the organ involved often there are no or only mild symptoms when it affects the lungs there may be whe￭ e￭ zing cough short￭ ness of breath or chest pain some may have lo￭ f￭ gre￭ n s syndrome in which there is fever large lymp￭ h no￭ des ar￭ thri￭ tis and a rash known as er￭ y￭ them￭ a no￭ do￭ sum the cause of sar￭ co￭ ido￭ sis is unknown some believe it may be due to an immune reaction to a trigger such as an infection or chemicals in those who are genetically pre￭ disposed those with affected family members are at greater risk diagnosis is partly based on signs and symptoms which may be supported by biopsy findings that make it likely include large lymp￭ h no￭ des at the root of the lung on both sides high blood calcium with a normal par￭ ath￭ yro￭ id hormone level or elevated levels of an￭ gi￭ ot￭ ens￭ in converting enzyme ace in the blood the diagnosis should only be made after excluding other possible causes of similar symptoms such as tuberculosis many people clear up without any treatment within a few years however some may have long term or severe disease some symptoms may be improved with the use of anti infl￭ am￭ matory drugs such as i￭ bu￭ prof￭ en in cases where the condition causes significant health problems ster￭ oids such as pred￭ nis￭ one are indicated alternatively medications such as meth￭ o￭ tre￭ x￭ ate chloro￭ qu￭ ine or az￭ ath￭ iop￭ rine may occasionally be used in an effort to decrease the side effects of ster￭ oids the risk of death is between one and seven percent there is a less than five percent chance of the disease returning in someone who has had it previously in 2013 pul￭ mon￭ ary sar￭ co￭ ido￭ sis and inter￭ sti￭ tial lung disease affected 595 000 people globally these two diseases resulted in 471 000 deaths it is most common in scandin￭ avi￭ ans but occurs in all parts of the world in the united states risk is greater among black as opposed to white people it usually begins between the ages of 20 – 50 it occurs more often in women than men sar￭ co￭ ido￭ sis was first described in 18￭ 77 by the english doctor jonathan hut￭ chin￭ son as a non painful skin disease
lup￭ us per￭ nio
cry￭ o￭ glob￭ ul￭ in￭ emia
cry￭ o￭ glob￭ ul￭ in￭ emia or cry￭ o￭ glob￭ ul￭ in￭ aemia is a medical condition in which the blood contains large amounts of cry￭ o￭ glob￭ ul￭ ins – proteins mostly immun￭ o￭ glob￭ ul￭ ins themselves that become in￭ soluble at reduced temperatures this should be contr￭ asted with cold agg￭ lu￭ tin￭ ins which cause agg￭ lu￭ t￭ ination of red blood cells cry￭ o￭ glob￭ ul￭ ins typically precipitate at temperatures below normal body temperature 37 ° c and will dissolve again if the blood is heated the precipit￭ ated cl￭ ump can block blood vessels and cause toes and fingers to become gang￭ ren￭ ous cry￭ o￭ glob￭ ul￭ in￭ emia can be associated with various diseases such as multiple my￭ el￭ oma and hepatitis c infection cry￭ o￭ glob￭ ul￭ ins usually consist of ig￭ m directed against the fc region of ig￭ g
cre￭ tin￭ ism
cre￭ tin￭ ism is a condition of severely stun￭ ted physical and mental growth due to untreated con￭ genital deficiency of thyro￭ id hormone con￭ genital hypo￭ thyro￭ i￭ dis￭ m usually due to maternal hypo￭ thyro￭ i￭ dis￭ m
con￭ genital hypo￭ thyro￭ i￭ dis￭ m
con￭ genital hypo￭ thyro￭ i￭ dis￭ m ch is a condition of thyro￭ id hormone deficiency present at birth approximately 1 in 4000 new￭ born infants has a severe deficiency of thyro￭ id function while even more have mild or partial degrees if untreated for several months after birth severe con￭ genital hypo￭ thyro￭ i￭ dis￭ m can lead to growth failure and permanent intellectual disability treatment consists of a daily dose of thyro￭ id hormone thyro￭ x￭ ine by mouth because the treatment is simple effective and inexpensive nearly all of the developed world practices new￭ born screening to detect and treat con￭ genital hypo￭ thyro￭ i￭ dis￭ m in the first weeks of life
i￭ od￭ ine deficiency
i￭ od￭ ine deficiency is a lack of the trace element i￭ od￭ ine an essential nutrient in the diet it may result in a go￭ iter sometimes as an endemic go￭ iter as well as cre￭ tin￭ ism due to untreated con￭ genital hypo￭ thyro￭ i￭ dis￭ m which results in developmental delays and other health problems i￭ od￭ ine deficiency is an important public health issue as it is a preventable cause of intellectual disability i￭ od￭ ine deficiency resulting in go￭ iter occurs in 187 million people globally as of 2010 2 7 of the population it resulted in 2700 deaths in 2013 up from 2100 deaths in 1990
go￭ itre
endemic go￭ itre
my￭ x￭ e￭ dem￭ a coma
my￭ x￭ e￭ dem￭ a coma is a state of de￭ compensated hypo￭ thyro￭ i￭ dis￭ m a person may have lab values identical to a normal hypo￭ thyro￭ id state but a stressful event such as an infection my￭ o￭ cardi￭ al inf￭ arc￭ tion or stroke precipit￭ ates the my￭ x￭ e￭ dem￭ a coma state usually in the elderly primary symptoms of my￭ x￭ e￭ dem￭ a coma are altered mental status and low body temperature low blood sugar low blood pressure hy￭ pon￭ at￭ re￭ mia hyper￭ cap￭ nia hypo￭ x￭ ia slowed heart rate and hypo￭ ventilation may also occur my￭ x￭ e￭ dem￭ a although included in the name is not necessarily seen in my￭ x￭ e￭ dem￭ a coma
my￭ x￭ e￭ dem￭ a
my￭ x￭ e￭ dem￭ a or my￭ x￭ oe￭ dem￭ a is a term used synonym￭ ously with severe hypo￭ thyro￭ i￭ dis￭ m however the term is also used to describe a der￭ mat￭ ological change that can occur in hypo￭ thyro￭ i￭ dis￭ m and some forms of hyper￭ thyro￭ i￭ dis￭ m in this context my￭ x￭ e￭ dem￭ a refers to de￭ position of mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ des in the der￭ mis which results in sw￭ elling of the affected area one manifestation of my￭ x￭ e￭ dem￭ a occurring in the lower limb is pre￭ ti￭ bial my￭ x￭ e￭ dem￭ a a hallmark of graves disease an auto￭ immune form of hyper￭ thyro￭ i￭ dis￭ m my￭ x￭ e￭ dem￭ a can also occur in hash￭ im￭ oto s thyro￭ idi￭ tis and other long standing forms of hypo￭ thyro￭ i￭ dis￭ m
my￭ x￭ e￭ dem￭ a or my￭ x￭ oe￭ dem￭ a is a term used synonym￭ ously with severe hypo￭ thyro￭ i￭ dis￭ m however the term is also used to describe a der￭ mat￭ ological change that can occur in hypo￭ thyro￭ i￭ dis￭ m and some forms of hyper￭ thyro￭ i￭ dis￭ m in this context my￭ x￭ e￭ dem￭ a refers to de￭ position of mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ des in the der￭ mis which results in sw￭ elling of the affected area one manifestation of my￭ x￭ e￭ dem￭ a occurring in the lower limb is pre￭ ti￭ bial my￭ x￭ e￭ dem￭ a a hallmark of graves disease an auto￭ immune form of hyper￭ thyro￭ i￭ dis￭ m my￭ x￭ e￭ dem￭ a can also occur in hash￭ im￭ oto s thyro￭ idi￭ tis and other long standing forms of hypo￭ thyro￭ i￭ dis￭ m the word my￭ x￭ e￭ dem￭ a originates from μ￭ ύ￭ ξ￭ α taken from ancient greek to convey m￭ uc￭ us or sli￭ my substance and ὁ￭ ο￭ ί￭ δη￭ μα for sw￭ elling it can also be thought as non￭ pit￭ ting e￭ dem￭ a in contrast to pit￭ ting e￭ dem￭ a
hypo￭ thyro￭ i￭ dis￭ m
hypo￭ thyro￭ i￭ dis￭ m also called under￭ active thyro￭ id or low thyro￭ id is a common disorder of the endocrine system in which the thyro￭ id g￭ land does not produce enough thyro￭ id hormone it can cause a number of symptoms such as poor ability to tolerate cold a feeling of ti￭ red￭ ness con￭ sti￭ p￭ ation depression and weight gain occasionally there may be sw￭ elling of the front part of the neck due to go￭ itre untreated hypo￭ thyro￭ i￭ dis￭ m during pregnancy can lead to delays in growth and intellectual development in the baby which is called cre￭ tin￭ ism
hypo￭ thyro￭ i￭ dis￭ m also called under￭ active thyro￭ id or low thyro￭ id is a common disorder of the endocrine system in which the thyro￭ id g￭ land does not produce enough thyro￭ id hormone it can cause a number of symptoms such as poor ability to tolerate cold a feeling of ti￭ red￭ ness con￭ sti￭ p￭ ation depression and weight gain occasionally there may be sw￭ elling of the front part of the neck due to go￭ itre untreated hypo￭ thyro￭ i￭ dis￭ m during pregnancy can lead to delays in growth and intellectual development in the baby which is called cre￭ tin￭ ism worldwide too little i￭ od￭ ine in the diet is the most common cause of hypo￭ thyro￭ i￭ dis￭ m in countries with enough i￭ od￭ ine in the diet the most common cause of hypo￭ thyro￭ i￭ dis￭ m is the auto￭ immune condition hash￭ im￭ oto s thyro￭ idi￭ tis less common causes include previous treatment with radioactive i￭ od￭ ine injury to the hypo￭ thal￭ am￭ us or the an￭ terior pit￭ u￭ itary g￭ land certain medications a lack of a functioning thyro￭ id at birth or previous thyro￭ id surgery the diagnosis of hypo￭ thyro￭ i￭ dis￭ m when suspected can be confirmed with blood tests measuring thyro￭ id stimulating hormone ts￭ h and thyro￭ x￭ ine levels prevention at the population level has been with the universal salt io￭ di￭ zation hypo￭ thyro￭ i￭ dis￭ m can be treated with le￭ vo￭ thyro￭ x￭ ine the dose is adjusted according to symptoms and normalization of the thyro￭ x￭ ine and ts￭ h levels thyro￭ id medication is safe in pregnancy while a certain amount of dietary i￭ od￭ ine is important excessive amounts can worsen certain types of hypo￭ thyro￭ i￭ dis￭ m worldwide about one billion people are estimated to be i￭ od￭ ine deficient however it is unknown how often this results in hypo￭ thyro￭ i￭ dis￭ m in the united states hypo￭ thyro￭ i￭ dis￭ m occurs in 0 3 – 0 4 of people sub￭ clinical hypo￭ thyro￭ i￭ dis￭ m a mil￭ der form of hypo￭ thyro￭ i￭ dis￭ m characterized by normal thyro￭ x￭ ine levels and an elevated ts￭ h level is thought to occur in 4 3 – 8 5 of people in the united states hypo￭ thyro￭ i￭ dis￭ m is more common in women than men people over the age of 60 are more commonly affected dogs are also known to develop hypo￭ thyro￭ i￭ dis￭ m and in rare cases cats and horses can also have the disorder the word hypo￭ thyro￭ i￭ dis￭ m is from greek hy￭ po meaning reduced thy￭ re￭ os for shield and ei￭ dos for form
thyro￭ id no￭ dule
thyro￭ id no￭ d￭ ules are lum￭ ps which commonly arise within an otherwise normal thyro￭ id g￭ land they indicate a thyro￭ id ne￭ op￭ las￭ m but only a small percentage of these are thyro￭ id cancers
hyper￭ thyro￭ i￭ dis￭ m
hyper￭ thyro￭ i￭ dis￭ m is the condition that occurs due to excessive production of thyro￭ id hormone by the thyro￭ id g￭ land thyro￭ toxico￭ sis is the condition that occurs due to excessive thyro￭ id hormone of any cause and therefore includes hyper￭ thyro￭ i￭ dis￭ m some however use the terms inter￭ change￭ ably signs and symptoms vary between people and may include irrit￭ ability muscle weakness sleeping problems a fast heartbeat heat intolerance diarr￭ hea enlargement of the thyro￭ id and weight loss symptoms are typically less in the old and during pregnancy an un￭ common complic￭ ation is thyro￭ id storm in which an event such as an infection results in worsening symptoms such as confusion and a high temperature and often results in death the opposite is hypo￭ thyro￭ i￭ dis￭ m when the thyro￭ id g￭ land does not make en￭ ou
hyper￭ thyro￭ i￭ dis￭ m is the condition that occurs due to excessive production of thyro￭ id hormone by the thyro￭ id g￭ land thyro￭ toxico￭ sis is the condition that occurs due to excessive thyro￭ id hormone of any cause and therefore includes hyper￭ thyro￭ i￭ dis￭ m some however use the terms inter￭ change￭ ably signs and symptoms vary between people and may include irrit￭ ability muscle weakness sleeping problems a fast heartbeat heat intolerance diarr￭ hea enlargement of the thyro￭ id and weight loss symptoms are typically less in the old and during pregnancy an un￭ common complic￭ ation is thyro￭ id storm in which an event such as an infection results in worsening symptoms such as confusion and a high temperature and often results in death the opposite is hypo￭ thyro￭ i￭ dis￭ m when the thyro￭ id g￭ land does not make enough thyro￭ id hormone graves disease is the cause of about 50 to 80 of the cases of hyper￭ thyro￭ i￭ dis￭ m in the united states other causes include multin￭ od￭ ular go￭ iter toxic aden￭ oma infl￭ amm￭ ation of the thyro￭ id eating too much i￭ od￭ ine and too much synthetic thyro￭ id hormone a less common cause is a pit￭ u￭ itary aden￭ oma the diagnosis may be suspected based on signs and symptoms and then confirmed with blood tests typically blood tests show a low thyro￭ id stimulating hormone ts￭ h and raised t 3 or t 4 radio￭ i￭ od￭ ine uptake by the thyro￭ id thyro￭ id scan and tsi antibodies may help determine the cause treatment depends partly on the cause and severity of disease there are three main treatment options radio￭ i￭ od￭ ine therapy medications and thyro￭ id surgery radio￭ i￭ od￭ ine therapy involves taking i￭ od￭ ine 131 by mouth which is then concentrated in and destroys the thyro￭ id over weeks to months the resulting hypo￭ thyro￭ i￭ dis￭ m is treated with synthetic thyro￭ id hormone medications such as beta bloc￭ kers may control the symptoms and anti thyro￭ id medications such as meth￭ im￭ azole may temporarily help people while other treatments are having effect surgery to remove the thyro￭ id is another option this may be used in those with very large thyro￭ ids or when cancer is a concern in the united states hyper￭ thyro￭ i￭ dis￭ m affects about 1 2 of the population it occurs between two and ten times more often in women onset is commonly between 20 and 50 years of age overall the disease is more common in those over the age of 60 years
graves disease
graves disease also known as toxic diffuse go￭ iter is an auto￭ immune disease that affects the thyro￭ id it frequently results in and is the most common cause of hyper￭ thyro￭ i￭ dis￭ m it also often results in an enlarged thyro￭ id signs and symptoms of hyper￭ thyro￭ i￭ dis￭ m may include irrit￭ ability muscle weakness sleeping problems a fast heartbeat poor tolerance of heat diarr￭ hea and weight loss other symptoms may include thick￭ ening of the skin on the sh￭ ins known as pre￭ ti￭ bial my￭ x￭ e￭ dem￭ a and eye bul￭ ging a condition caused by graves oph￭ thal￭ mop￭ athy about 25 to 80 of people with the condition develop eye problems
graves disease also known as toxic diffuse go￭ iter is an auto￭ immune disease that affects the thyro￭ id it frequently results in and is the most common cause of hyper￭ thyro￭ i￭ dis￭ m it also often results in an enlarged thyro￭ id signs and symptoms of hyper￭ thyro￭ i￭ dis￭ m may include irrit￭ ability muscle weakness sleeping problems a fast heartbeat poor tolerance of heat diarr￭ hea and weight loss other symptoms may include thick￭ ening of the skin on the sh￭ ins known as pre￭ ti￭ bial my￭ x￭ e￭ dem￭ a and eye bul￭ ging a condition caused by graves oph￭ thal￭ mop￭ athy about 25 to 80 of people with the condition develop eye problems the exact cause is unclear however it is believed to involve a combination of genetic and environmental factors a person is more likely to be affected if they have a family member with the disease if one twin is affected there is a 30 chance the other twin will also have the disease the onset of disease may be triggered by stress infection or giving birth those with other auto￭ immune diseases such as type 1 diabetes and r￭ heu￭ mato￭ id ar￭ thri￭ tis are more likely to be affected smoking increases the risk of disease and may worsen eye problems the disorder results from an anti￭ body called thyro￭ id stimulating immun￭ o￭ glob￭ ulin tsi that has a similar effect to thyro￭ id stimulating hormone ts￭ h these tsi antibodies cause the thyro￭ id g￭ land to produce excess thyro￭ id hormone the diagnosis may be suspected based on symptoms and confirmed with blood tests and radio￭ i￭ od￭ ine uptake typically blood tests show a raised t 3 and t 4 low ts￭ h increased radio￭ i￭ od￭ ine uptake in all areas of the thyro￭ id and tsi antibodies there are three treatment options radio￭ i￭ od￭ ine therapy medications and thyro￭ id surgery radio￭ i￭ od￭ ine therapy involves taking i￭ od￭ ine 131 by mouth which is then concentrated in and destroys the thyro￭ id over weeks to months the resulting hypo￭ thyro￭ i￭ dis￭ m is treated with synthetic thyro￭ id hormone medications such as beta bloc￭ kers may control some of the symptoms and anti thyro￭ id medications such as meth￭ im￭ azole may temporarily help people while other treatments are having effect surgery to remove the thyro￭ id is another option eye problems may require additional treatments graves disease will develop in about 0 5 of males and 3 of females it occurs about 7 5 times more often in women than men often it starts between the ages of 40 and 60 but can begin at any age it is the most common cause of hyper￭ thyro￭ i￭ dis￭ m in the united states about 50 to 80 of cases the condition is named after robert graves who described it in 18￭ 35 a number of prior descriptions also exist
thyro￭ idi￭ tis
thyro￭ idi￭ tis is the infl￭ amm￭ ation of the thyro￭ id g￭ land the thyro￭ id g￭ land is located on the front of the neck below the lar￭ yn￭ ge￭ al prominence and makes hormones that control metabol￭ ism
de quer￭ vain s thyro￭ idi￭ tis
auto￭ immune thyro￭ idi￭ tis
auto￭ immune thyro￭ idi￭ tis or chronic auto￭ immune thyro￭ idi￭ tis is a disease in which the body interpre￭ ts the thyro￭ id g￭ lands and its hormone products t 3 t 4 and ts￭ h as threats therefore producing special antibodies that target the thyro￭ id ’ s cells thereby destroying it it presents with hypo￭ thyro￭ i￭ dis￭ m or hyper￭ thyro￭ i￭ dis￭ m and the presence or absence of go￭ iters
ri￭ e￭ del s thyro￭ idi￭ tis
thyro￭ id hormone resistance
pend￭ red syndrome
eu￭ thyro￭ id sick syndrome
eu￭ thyro￭ id sick syndrome ess sick eu￭ thyro￭ id syndrome ses thyro￭ id allo￭ st￭ asis in critical illness tum￭ ours u￭ re￭ mia and starvation tac￭ it￭ us non thyro￭ idal illness syndrome n￭ tis or low t 3 low t 4 syndrome is a state of adaptation or dys￭ regulation of thyro￭ tropic feedback control where the levels of t 3 and or t 4 are at unusual levels but the thyro￭ id g￭ land does not appear to be dysfunctional
eu￭ thyro￭ id sick syndrome ess sick eu￭ thyro￭ id syndrome ses thyro￭ id allo￭ st￭ asis in critical illness tum￭ ours u￭ re￭ mia and starvation tac￭ it￭ us non thyro￭ idal illness syndrome n￭ tis or low t 3 low t 4 syndrome is a state of adaptation or dys￭ regulation of thyro￭ tropic feedback control where the levels of t 3 and or t 4 are at unusual levels but the thyro￭ id g￭ land does not appear to be dysfunctional this condition is often seen in starvation critical illness or patients in intensive care unit the most common hormone pattern in sick eu￭ thyro￭ id syndrome is a low total and un￭ bound t 3 levels with normal t 4 and ts￭ h levels
diabe￭ tic coma
diabe￭ tic coma is a reversible form of coma found in people with diabetes mell￭ it￭ us it is a medical emergency three different types of diabe￭ tic coma are identified 1 severe low blood sugar in a diabe￭ tic person 2 diabe￭ tic ke￭ to￭ aci￭ do￭ sis usually type 1 advanced enough to result in un￭ consciousness from a combination of a severely increased blood sugar level dehydr￭ ation and shock and exhaustion 3 hyper￭ o￭ sm￭ ol￭ ar non￭ ke￭ to￭ tic coma usually type 2 in which an extremely high blood sugar level and dehydr￭ ation alone are sufficient to cause un￭ consciousness
diabe￭ tic ne￭ ph￭ ro￭ pa￭ thy
diabe￭ tic ne￭ ph￭ ro￭ pa￭ thy or diabe￭ tic kidney disease is a progressive kidney disease caused by damage to the cap￭ il￭ lar￭ ies in the kidneys glo￭ mer￭ uli it is characterized by ne￭ ph￭ ro￭ tic syndrome and diffuse scar￭ ring of the glo￭ mer￭ uli it is due to longstanding diabetes mell￭ it￭ us and is a prime reason for dial￭ ysis in many developed countries it is classified as a small blood vessel complic￭ ation of diabetes
diabe￭ tic an￭ gi￭ opathy
diabetes mell￭ it￭ us
diabetes mell￭ it￭ us dm commonly referred to as diabetes is a group of metabol￭ ic diseases in which there are high blood sugar levels over a prolonged period symptoms of high blood sugar include frequent ur￭ ination increased thirst and increased hunger if left untreated diabetes can cause many complications acute complications can include diabe￭ tic ke￭ to￭ aci￭ do￭ sis non￭ ke￭ to￭ tic hyper￭ o￭ sm￭ ol￭ ar coma or death serious long term complications include heart disease stroke chronic kidney failure foot ul￭ cers and damage to the eyes
diabetes mell￭ it￭ us dm commonly referred to as diabetes is a group of metabol￭ ic diseases in which there are high blood sugar levels over a prolonged period symptoms of high blood sugar include frequent ur￭ ination increased thirst and increased hunger if left untreated diabetes can cause many complications acute complications can include diabe￭ tic ke￭ to￭ aci￭ do￭ sis non￭ ke￭ to￭ tic hyper￭ o￭ sm￭ ol￭ ar coma or death serious long term complications include heart disease stroke chronic kidney failure foot ul￭ cers and damage to the eyes diabetes is due to either the pan￭ cre￭ as not producing enough insulin or the cells of the body not responding properly to the insulin produced there are three main types of diabetes mell￭ it￭ us type 1 dm results from the pan￭ cre￭ as s failure to produce enough insulin this form was previously referred to as insulin dependent diabetes mell￭ it￭ us id￭ dm or juvenile diabetes the cause is unknown type 2 dm begins with insulin resistance a condition in which cells fail to respond to insulin properly as the disease progres￭ ses a lack of insulin may also develop this form was previously referred to as non insulin dependent diabetes mell￭ it￭ us n￭ id￭ dm or adult onset diabetes the primary cause is excessive body weight and not enough exercise gest￭ ational diabetes is the third main form and occurs when pregnant women without a previous history of diabetes develop high blood sugar levels prevention and treatment involve maintaining a healthy diet regular physical exercise a normal body weight and avoiding use of tobacco control of blood pressure and maintaining proper foot care are important for people with the disease type 1 dm must be managed with insulin injections type 2 dm may be treated with medications with or without insulin insulin and some oral medications can cause low blood sugar weight loss surgery in those with obesity is sometimes an effective measure in those with type 2 dm gest￭ ational diabetes usually resol￭ ves after the birth of the baby as of 2015 an estimated 415 million people had diabetes worldwide with type 2 dm making up about 90 of the cases this represents 8 3 of the adult population with equal rates in both women and men as of 2014 trends suggested the rate would continue to rise diabetes at least dou￭ bles a person s risk of early death from 2012 to 2015 approximately 1 5 to 5 0 million deaths each year resulted from diabetes the global economic cost of diabetes in 2014 was estimated to be us 6￭ 12 billion in the united states diabetes cost 245 billion in 2012
hyper￭ insul￭ in￭ ism
hyper￭ insul￭ in￭ ism refers to an above normal level of insulin in the blood of a person or animal normal insulin secre￭ tion and blood levels are closely related to the level of glucose in the blood so that a given level of insulin can be normal for one blood glucose level but low or high for another hyper￭ insul￭ in￭ ism can be associated with several types of medical problems which can be roughly divided into two broad and largely non overlapping categories those tending toward reduced sensitivity to insulin and high blood glucose levels hyper￭ gly￭ cem￭ ia and those tending toward excessive insulin secre￭ tion and low glucose levels hypo￭ gly￭ cem￭ ia
hypo￭ gly￭ cem￭ ia
hypo￭ gly￭ cem￭ ia also known as low blood sugar is when blood sugar decreases to below normal levels this may result in a variety of symptoms including clum￭ sin￭ ess trouble talking confusion loss of consciousness seizures or death a feeling of hunger swe￭ ating shak￭ iness and weakness may also be present symptoms typically come on quickly
hypo￭ gly￭ cem￭ ia also known as low blood sugar is when blood sugar decreases to below normal levels this may result in a variety of symptoms including clum￭ sin￭ ess trouble talking confusion loss of consciousness seizures or death a feeling of hunger swe￭ ating shak￭ iness and weakness may also be present symptoms typically come on quickly the most common cause of hypo￭ gly￭ cem￭ ia is medications used to treat diabetes mell￭ it￭ us such as insulin and sul￭ fon￭ y￭ lu￭ re￭ as risk is greater in diabe￭ tics who have eaten less than usual exercised more than usual or have drunk alcohol other causes of hypo￭ gly￭ cem￭ ia include kidney failure certain tumors such as insul￭ in￭ oma liver disease hypo￭ thyro￭ i￭ dis￭ m starvation in￭ born error of metabol￭ ism severe infections reactive hypo￭ gly￭ cem￭ ia and a number of drugs including alcohol low blood sugar may occur in babies who are otherwise healthy who have not eaten for a few hours the glucose level that defines hypo￭ gly￭ cem￭ ia is variable in people with diabetes levels below 3 9 m￭ mol l 70 mg dl is diagnostic in adults without diabetes symptoms related to low blood sugar low blood sugar at the time of symptoms and improvement when blood sugar is restored to normal confirm the diagnosis otherwise a level below 2 8 m￭ mol l 50 mg dl after not eating or following exercise may be used in new￭ bor￭ ns a level below 2 2 m￭ mol l 40 mg dl or less than 3 3 m￭ mol l 60 mg dl if symptoms are present indicates hypo￭ gly￭ cem￭ ia other tests that may be useful in determining the cause include insulin and c pep￭ tide levels in the blood hyper￭ gly￭ cem￭ ia high blood sugar is the opposite condition among people with diabetes prevention is by matching the foods eaten with the amount of exercise and the medications used when people feel their blood sugar is low testing with a glucose monitor is recommended some people have few initial symptoms of low blood sugar and frequent routine testing in this group is recommended treatment of hypo￭ gly￭ cem￭ ia is by eating foods high in simple sugars or taking d￭ ext￭ rose if a person is not able to take food by mouth an injection of gl￭ uc￭ agon may help the treatment of hypo￭ gly￭ cem￭ ia unrelated to diabetes include treating the underlying problem as well and a healthy diet the term hypo￭ gly￭ cem￭ ia is sometimes incorrectly used to refer to idi￭ opathic post￭ pr￭ an￭ dial syndrome a controversial condition with similar symptoms that occur following eating but with normal blood sugar levels
reactive hypo￭ gly￭ cem￭ ia
reactive hypo￭ gly￭ cem￭ ia or post￭ pr￭ an￭ dial hypo￭ gly￭ cem￭ ia is a medical term describing recurrent episodes of symptomatic hypo￭ gly￭ cem￭ ia occurring within 4 hours after a high carbo￭ hydrate meal in people who do not have diabetes it is thought to represent a consequence of excessive insulin release triggered by the carbo￭ hydrate meal but continuing past the dig￭ estion and disposal of the glucose derived from the meal
reactive hypo￭ gly￭ cem￭ ia or post￭ pr￭ an￭ dial hypo￭ gly￭ cem￭ ia is a medical term describing recurrent episodes of symptomatic hypo￭ gly￭ cem￭ ia occurring within 4 hours after a high carbo￭ hydrate meal in people who do not have diabetes it is thought to represent a consequence of excessive insulin release triggered by the carbo￭ hydrate meal but continuing past the dig￭ estion and disposal of the glucose derived from the meal the prevalence of this condition is difficult to ascertain because a number of stricter or loo￭ ser definitions have been used it is recommended that the term reactive hypo￭ gly￭ cem￭ ia be reserved for the pattern of post￭ pr￭ an￭ dial hypo￭ gly￭ cem￭ ia which meets the whip￭ ple criteria symptoms correspond to meas￭ ur￭ ably low glucose and are relieved by raising the glucose and that the term idi￭ opathic post￭ pr￭ an￭ dial syndrome be used for similar patterns of symptoms where abnormally low glucose levels at the time of symptoms cannot be documented to assist diagnosis a doctor can order an h￭ ba 1 c test which measures the blood sugar average over the two or three months before the test the more specific 6 hour glucose tolerance test can be used to chart changes in the patient s blood sugar levels before ing￭ estion of a special glucose drink and at regular intervals during the six hours following to see if an unusual rise or drop in blood glucose levels occurs according to the u s national institute of health nih a blood glucose level below 70 mg dl 3 9 m￭ mol l at the time of symptoms followed by relief after eating confirms a diagnosis for reactive hypo￭ gly￭ cem￭ ia
zoll￭ inger – el￭ lis￭ on syndrome
zoll￭ inger – el￭ lis￭ on syndrome zes is caused by a non – beta is￭ let cell is￭ let of lang￭ er￭ hans ga￭ str￭ in secre￭ ting tumor of the pan￭ cre￭ as that stimulates the acid secre￭ ting cells of the stomach par￭ ie￭ tal cells to maxim￭ al activity with consequent gastro￭ intest￭ inal mu￭ cos￭ al ul￭ cer￭ ation zes may occur spor￭ ad￭ ically or as part of an auto￭ som￭ al dominant famili￭ al syndrome called multiple endocrine ne￭ op￭ la￭ sia type 1 men 1 the primary tumor is usually located in the pan￭ cre￭ as du￭ o￭ den￭ um or ab￭ domin￭ al lymp￭ h no￭ des but ec￭ topic locations have also been described e g heart o￭ vary gall￭ blad￭ der liver kidney
hypo￭ par￭ ath￭ yro￭ i￭ dis￭ m
hypo￭ par￭ ath￭ yro￭ i￭ dis￭ m is decreased function of the par￭ ath￭ yro￭ id g￭ lands with under￭ production of par￭ ath￭ yro￭ id hormone this can lead to low levels of calcium in the blood often causing cram￭ ping and tw￭ it￭ ching of muscles or tet￭ any involuntary muscle contraction and several other symptoms the condition can be inherited but it is also encountered after thyro￭ id or par￭ ath￭ yro￭ id g￭ land surgery and it can be caused by immune system related damage as well as a number of r￭ arer causes the diagnosis is made with blood tests and other investigations such as genetic testing depending on the results the treatment of hypo￭ par￭ ath￭ yro￭ i￭ dis￭ m is limited by the fact that there is no artificial form of the hormone that can be administered as replacement calcium replacement or vitamin d can amelior￭ ate the symptom
pseu￭ do￭ hypo￭ par￭ ath￭ yro￭ i￭ dis￭ m
hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m
hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m is an increased par￭ ath￭ yro￭ id hormone p￭ th levels in the blood this occurs either from the par￭ ath￭ yro￭ id g￭ lands in￭ appropriately making too much p￭ th primarily hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m or other events triggering increased production by the par￭ ath￭ yro￭ id g￭ lands secondary hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m most people with primary disease have no symptoms at the time of diagnosis in those with symptoms the most common is kidney stones with other potential symptoms including weakness depression bone pains confusion and increased ur￭ ination both types increase the risk of weak bones
hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m is an increased par￭ ath￭ yro￭ id hormone p￭ th levels in the blood this occurs either from the par￭ ath￭ yro￭ id g￭ lands in￭ appropriately making too much p￭ th primarily hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m or other events triggering increased production by the par￭ ath￭ yro￭ id g￭ lands secondary hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m most people with primary disease have no symptoms at the time of diagnosis in those with symptoms the most common is kidney stones with other potential symptoms including weakness depression bone pains confusion and increased ur￭ ination both types increase the risk of weak bones primary hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m in 80 of cases is due to a single benign tumor known as a par￭ ath￭ yro￭ id aden￭ oma with most of the rest of the cases due to a multiple benign tumors rarely it may be due to par￭ ath￭ yro￭ id cancer secondary hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m typically occurs due to vitamin d deficiency chronic kidney disease or other causes of low blood calcium diagnosis of primary disease is by finding a high blood calcium and high p￭ th levels primary hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m may be cured by removing the aden￭ oma or over￭ active par￭ ath￭ yro￭ id g￭ lands in those without symptoms mildly increased blood calcium levels normal kidneys and normal bone density monitoring may be all that is required the medication cin￭ ac￭ al￭ cet may also be used to decrease p￭ th levels in those with very high blood calcium levels treatment may include large amounts of intra￭ ven￭ ous normal sal￭ ine low vitamin d levels should be corrected primary hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m is the most common form in the developed world between one and four per thousand people are affected it occurs three times more often in women than men and is typically diagnosed between the ages of 50 and 60 the disease was first described in the 1700 s and in the late 1800 s was determined to be related to the par￭ ath￭ yro￭ id surgery as a treatment was first carried out in 19￭ 25
ost￭ ei￭ tis fi￭ bro￭ sa c￭ ys￭ tica
ost￭ ei￭ tis fi￭ bro￭ sa c￭ ys￭ tica ˌ￭ ɒ￭ sti￭ ː￭ ˈ￭ a￭ ɪ￭ t￭ ᵻ￭ s fa￭ ɪ￭ ˈ￭ bro￭ ʊ￭ s￭ ə ˈ￭ s￭ ɪ￭ st￭ ᵻ￭ k￭ ə abbreviated of￭ c also known as ost￭ ei￭ tis fi￭ bro￭ sa o￭ ste￭ od￭ y￭ stro￭ phia fi￭ bro￭ sa and von reck￭ ling￭ ha￭ usen s disease of bone not to be confused with von reck￭ ling￭ ha￭ usen s disease neuro￭ fi￭ bro￭ mat￭ osis type i is a sk￭ el￭ etal disorder caused by hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m which is a surplus of par￭ ath￭ yro￭ id hormone from over active par￭ ath￭ yro￭ id g￭ lands this surplus stimulates the activity of o￭ ste￭ o￭ cl￭ asts cells that break down bone in a process known as o￭ ste￭ o￭ cl￭ astic bone resor￭ ption the hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m can be triggered by a par￭ ath￭ yro￭ id aden￭ oma hereditary factors par￭ ath￭ yro￭ id carcin￭ oma or ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy o￭ ste￭ o￭ cl￭ astic bone resor￭ ption releases minerals including calcium from the bone into the blood￭ stream in addition to elevated blood calcium l
ost￭ ei￭ tis fi￭ bro￭ sa c￭ ys￭ tica ˌ￭ ɒ￭ sti￭ ː￭ ˈ￭ a￭ ɪ￭ t￭ ᵻ￭ s fa￭ ɪ￭ ˈ￭ bro￭ ʊ￭ s￭ ə ˈ￭ s￭ ɪ￭ st￭ ᵻ￭ k￭ ə abbreviated of￭ c also known as ost￭ ei￭ tis fi￭ bro￭ sa o￭ ste￭ od￭ y￭ stro￭ phia fi￭ bro￭ sa and von reck￭ ling￭ ha￭ usen s disease of bone not to be confused with von reck￭ ling￭ ha￭ usen s disease neuro￭ fi￭ bro￭ mat￭ osis type i is a sk￭ el￭ etal disorder caused by hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m which is a surplus of par￭ ath￭ yro￭ id hormone from over active par￭ ath￭ yro￭ id g￭ lands this surplus stimulates the activity of o￭ ste￭ o￭ cl￭ asts cells that break down bone in a process known as o￭ ste￭ o￭ cl￭ astic bone resor￭ ption the hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m can be triggered by a par￭ ath￭ yro￭ id aden￭ oma hereditary factors par￭ ath￭ yro￭ id carcin￭ oma or ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy o￭ ste￭ o￭ cl￭ astic bone resor￭ ption releases minerals including calcium from the bone into the blood￭ stream in addition to elevated blood calcium levels over activity of this process results in a loss of bone mass a weakening of the bones as their calci￭ fied supporting structures are replaced with fi￭ bro￭ us tissue per￭ it￭ rab￭ ec￭ ular fi￭ bro￭ sis and the formation of cyst like brown tumors in and around the bone the symptoms of the disease are the consequences of both the general sof￭ tening of the bones and the excess calcium in the blood and include bone fractu￭ res kidney stones naus￭ ea mo￭ th eaten appearance in the bones appetite loss and weight loss first described in the nineteenth century of￭ c is currently detected through a combination of blood testing x rays and tissue sampling before 1950 around half of those diagnosed with hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m in the united states saw it progress to of￭ c but with early identification techniques and improved treatment methods instances of of￭ c in developed countries are increasingly rare where treatment is required it normally involves addressing the underlying hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m before commencing long term treatment for of￭ c — depending on its cause and severity this can range from hydr￭ ation and exercise to surgical intervention
gig￭ anti￭ sm
acro￭ me￭ gal￭ y
acro￭ me￭ gal￭ y is a condition that results from excess growth hormone gh after the growth plates have closed the initial symptom is typically enlargement of the hands and feet there may also be enlargement of the fore￭ head jaw and nose other symptoms may include joint pain thick￭ er skin deepening of the voice headaches and problems with vision complications of the disease may include type 2 diabetes sleep ap￭ ne￭ a and high blood pressure
acro￭ me￭ gal￭ y is a condition that results from excess growth hormone gh after the growth plates have closed the initial symptom is typically enlargement of the hands and feet there may also be enlargement of the fore￭ head jaw and nose other symptoms may include joint pain thick￭ er skin deepening of the voice headaches and problems with vision complications of the disease may include type 2 diabetes sleep ap￭ ne￭ a and high blood pressure acro￭ me￭ gal￭ y is typically due to the pit￭ u￭ itary g￭ land producing too much growth hormone in more than 95 of people the excess production is due to a benign tumor known as a pit￭ u￭ itary aden￭ oma the condition is not inherited from a person s parents rarely acro￭ meg￭ ally is due to tumors in other parts of the body diagnosis is by measuring growth hormone after a person has drunk glucose or measuring insulin like growth factor i in the blood after diagnosis medical imaging of the pit￭ u￭ itary is carried out to look for an aden￭ oma if excess growth hormone is produced during childhood the result is gig￭ anti￭ sm treatment option include surgery to remove the tumor medications and radiation therapy surgery is usually the preferred treatment and is most effective when the tumor is smaller in those in whom surgery is not effective medications of the som￭ ato￭ stati￭ n analogue or gh recep￭ tor antagon￭ ist type may be used the effects of radiation therapy are more gradual than that of surgery or medication without treatment those affected live on average 10 years less however with treatment life expectancy is typically normal acro￭ me￭ gal￭ y affects about 6 per 100 000 people it is most commonly diagnosed in middle age males and females are affected equally frequently the first medical description of the disorder occurred in 17￭ 72 by nicolas sau￭ cer￭ otte the term is from greek ἄ￭ κ￭ ρο￭ ν ak￭ ron meaning extre￭ mity and μέ￭ γ￭ α mega meaning large
hyper￭ pro￭ lac￭ tin￭ aemia
hyper￭ pro￭ lac￭ tin￭ aemia or hyper￭ pro￭ lac￭ tin￭ emia is the presence of abnormally high levels of pro￭ l￭ acti￭ n in the blood normal levels are less than 500 mi￭ u l 20 ng ml or µ￭ g l for women and less than 450 mi￭ u l for men
hyper￭ pro￭ lac￭ tin￭ aemia or hyper￭ pro￭ lac￭ tin￭ emia is the presence of abnormally high levels of pro￭ l￭ acti￭ n in the blood normal levels are less than 500 mi￭ u l 20 ng ml or µ￭ g l for women and less than 450 mi￭ u l for men pro￭ l￭ acti￭ n is a pep￭ tide hormone produced by the an￭ terior pit￭ u￭ itary g￭ land that is primarily associated with lac￭ tation and plays a vital role in breast development during pregnancy hyper￭ pro￭ lac￭ tin￭ aemia may cause galac￭ tor￭ rhe￭ a production and spontaneous flow of breast milk and disruptions in the normal men￭ str￭ ual period in women and hypo￭ gon￭ ad￭ ism in￭ fertility and er￭ ec￭ tile dysfunction in men hyper￭ pro￭ lac￭ tin￭ aemia can be a part of normal body changes during pregnancy and breastfeeding it can also be caused by diseases affecting the hypo￭ thal￭ am￭ us and pit￭ u￭ itary g￭ land it can also be caused by disruption of the normal regulation of pro￭ l￭ acti￭ n levels by drugs medicinal herbs and heavy metals hyper￭ pro￭ lac￭ tin￭ aemia may also be the result of disease of other organs such as the liver kidneys ov￭ aries and thyro￭ id
syndrome of inappropriate anti￭ di￭ u￭ re￭ tic hormone secre￭ tion
syndrome of inappropriate anti￭ di￭ u￭ re￭ tic hormone secre￭ tion si￭ adh is characterized by excessive release of anti￭ di￭ u￭ re￭ tic hormone from the poster￭ ior pit￭ u￭ itary g￭ land or another source the increase in blood volume hyper￭ vol￭ emia often results in dilu￭ tional hy￭ pon￭ at￭ re￭ mia in which the plasma sodium levels are lowered and total body fluid is increased although the sodium level is low si￭ adh is brought about by an excess of water rather than a deficit of sodium
syndrome of inappropriate anti￭ di￭ u￭ re￭ tic hormone secre￭ tion si￭ adh is characterized by excessive release of anti￭ di￭ u￭ re￭ tic hormone from the poster￭ ior pit￭ u￭ itary g￭ land or another source the increase in blood volume hyper￭ vol￭ emia often results in dilu￭ tional hy￭ pon￭ at￭ re￭ mia in which the plasma sodium levels are lowered and total body fluid is increased although the sodium level is low si￭ adh is brought about by an excess of water rather than a deficit of sodium it was originally described in people with small cell carcin￭ oma of the lung but it can be caused by a number of underlying medical conditions the treatment may consist of fluid intake restriction various medicines and management of the underlying cause salt administration may help prevent brain sw￭ elling by increasing attractive force to keep water in the blood￭ stream preventing fluid buil￭ dup in tissue si￭ adh was first described in 1957
pick￭ ard￭ t syndrome
growth hormone deficiency
growth hormone deficiency gh￭ d is a medical condition caused by problems arising in the pit￭ u￭ itary g￭ land in which the body does not produce enough growth hormone gh growth hormone also called som￭ atro￭ pin is a poly￭ pep￭ tide hormone which stimulates growth and cell reproduction gh deficiency can be treated through growth hormone replacement injections of growth hormone or radiation or surgical treatment of tumors
shee￭ han s syndrome
k￭ all￭ mann syndrome
k￭ all￭ mann syndrome is a rare genetic condition that is characterized by a failure to start or a failure to complete pu￭ ber￭ ty it is also accompanied by a lack of sense of smell an￭ os￭ mia or a highly reduced sense of smell hy￭ pos￭ mia the condition can occur in both males and females but is more commonly diagnosed in males left untreated patients with k￭ all￭ mann syndrome will almost invariably be in￭ fertile hh can occur as an isolated condition with just the l￭ h and f￭ sh production being affected or it can occur in combined pit￭ u￭ itary deficiency conditions such as charge syndrome
dwar￭ f￭ ism
dwar￭ f￭ ism occurs when an organism is short in stature from a medical condition that caused slow growth in humans dwar￭ f￭ ism is sometimes defined as an adult height of less than 4 feet 10 inches 58 in 147 cm dwar￭ f￭ ism can be caused by more than 300 medical conditions such that the symptoms of individuals with dwar￭ f￭ ism vary greatly disproportionate dwar￭ f￭ ism is characterized by one or more body parts being relatively large or small in comparison to those of an average sized adult with growth variations in specific areas in cases of proportionate dwar￭ f￭ ism the body appears normally proportion￭ ed but is unusually small low muscle tone is common but intelligence and lifespan are usually normal
dwar￭ f￭ ism occurs when an organism is short in stature from a medical condition that caused slow growth in humans dwar￭ f￭ ism is sometimes defined as an adult height of less than 4 feet 10 inches 58 in 147 cm dwar￭ f￭ ism can be caused by more than 300 medical conditions such that the symptoms of individuals with dwar￭ f￭ ism vary greatly disproportionate dwar￭ f￭ ism is characterized by one or more body parts being relatively large or small in comparison to those of an average sized adult with growth variations in specific areas in cases of proportionate dwar￭ f￭ ism the body appears normally proportion￭ ed but is unusually small low muscle tone is common but intelligence and lifespan are usually normal treatment depends on the underlying cause those with bone growth disorders can sometimes be treated with surgery some hormone disorders can be treated with hormone replacement therapy before the child s growth plates fuse individual accommod￭ ations such as specialized furniture are often used by people with dwar￭ f￭ ism many support groups provide services to aid individuals and the discrimination they may face in addition to the medical aspect of the condition there are also social aspects for a person with dwar￭ f￭ ism height discrimination can lead to ridicule in childhood and discrimination in adul￭ thood in the united kingdom united states canada australia and other english speaking countries some people with dwar￭ f￭ ism prefer to be called little people historically the term mid￭ get was used to describe proportionate dwar￭ fs however this term is now regarded as offensive by some
hypo￭ pit￭ uit￭ arism
hypo￭ pit￭ uit￭ arism is the decreased hy￭ po secre￭ tion of one or more of the eight hormones normally produced by the pit￭ u￭ itary g￭ land at the base of the brain if there is decreased secre￭ tion of most pit￭ u￭ itary hormones the term pan￭ hypo￭ pit￭ uit￭ arism pan meaning all is used
diabetes insi￭ pi￭ dus
diabetes insi￭ pi￭ dus di is a condition characterized by excessive thirst and ex￭ cre￭ tion of large amounts of severely dilute urine with reduction of fluid intake having no effect on the concentration of the urine there are different types of di each with a different set of causes the most common type in humans is the neuro￭ logical form called central di c￭ di which involves a deficiency of ar￭ gin￭ ine vas￭ op￭ res￭ sin av￭ p also known as anti￭ di￭ u￭ re￭ tic hormone adh the second common type of di is ne￭ ph￭ ro￭ genic diabetes insi￭ pi￭ dus n￭ di which is due to kidney or ne￭ phr￭ on dysfunction caused by an in￭ sensitivity of the kidneys or ne￭ ph￭ ron￭ s to adh di can also be gest￭ ational or caused by alcohol or some types of drug abuse di should not be confused with no￭ c￭ tur￭ ia
adi￭ pos￭ o￭ genital dy￭ stro￭ phy
adi￭ pos￭ o￭ genital dy￭ stro￭ phy is a condition which may be caused by tertiary hypo￭ gon￭ ad￭ ism originating from decreased levels in gn￭ r￭ h low levels of gn￭ r￭ h has been associated with defects of the feeding centers of the hypo￭ thal￭ am￭ us leading to an increased consumption of food and thus cal￭ or￭ ic intake
cu￭ shing s syndrome
cu￭ shing s syndrome is a collection of signs and symptoms due to prolonged exposure to cor￭ ti￭ sol signs and symptoms may include high blood pressure ab￭ domin￭ al obesity but with thin arms and legs red￭ dish stretch marks a round red face a fat lump between the shoulders weak muscles weak bones ac￭ ne and fragile skin that he￭ als poorly women may have more hair and irregular men￭ str￭ uation occasionally there may be changes in mood headaches and a chronic feeling of ti￭ red￭ ness
cu￭ shing s disease
cu￭ shing s disease is a cause of cu￭ shing s syndrome characterised by increased secre￭ tion of ad￭ re￭ no￭ cor￭ ti￭ co￭ tropic hormone ac￭ th from the an￭ terior pit￭ u￭ itary secondary hyper￭ cor￭ ti￭ sol￭ ism this is most often as a result of a pit￭ u￭ itary aden￭ oma specifically pit￭ u￭ itary bas￭ oph￭ il￭ ism or due to excess production of hypo￭ thal￭ am￭ us cr￭ h cor￭ ti￭ co￭ tro￭ pin releasing hormone tertiary hyper￭ cor￭ ti￭ sol￭ ism hyper￭ cor￭ ticism that stimulates the synthesis of cor￭ ti￭ sol by the adren￭ al g￭ lands pit￭ u￭ itary aden￭ om￭ as are responsible for 80 of endo￭ genous cu￭ shing s syndrome when excluding cu￭ shing s syndrome from exo￭ gen￭ ously administered cor￭ ti￭ co￭ ster￭ oids
hyper￭ and￭ ro￭ gen￭ ism
hyper￭ and￭ ro￭ gen￭ ism or and￭ ro￭ gen excess is a medical condition characterized by excessive levels of and￭ rog￭ ens in the body and the associated effects of these excessive levels of and￭ rog￭ ens hyper￭ and￭ ro￭ gen￭ ism is one of the primary symptoms of poly￭ c￭ ys￭ tic o￭ vary syndrome p￭ cos in such cases it presents with symptoms such as ac￭ ne and se￭ bor￭ rhe￭ a is frequent in adoles￭ cent girls and is often associated with irregular men￭ str￭ ual cycles in most instances these symptoms are transi￭ ent and reflect only the im￭ maturity of the hypo￭ thal￭ am￭ ic pit￭ u￭ itary o￭ vari￭ an axis during the first years following men￭ arch￭ e approximately three quarters of patients with p￭ cos by the diagnostic criteria of nih nic￭ hd 1990 have evidence of hyper￭ and￭ ro￭ gen￭ ism with free te￭ sto￭ ster￭ one being the single most predic￭ tive marker with 60
con￭ genital adren￭ al hyper￭ pl￭ asia
ach￭ ard – thi￭ ers syndrome
ach￭ ard – thi￭ ers syndrome combines the features of ad￭ re￭ no￭ genital syndrome and cu￭ shing syndrome it is also known as diabe￭ tic bear￭ ded woman syndrome di￭ ab￭ è￭ te des fem￭ mes à bar￭ be the disease is named for em￭ ile ach￭ ard and joseph thi￭ ers
hyper￭ al￭ do￭ ster￭ on￭ ism
primary al￭ do￭ ster￭ on￭ ism
primary al￭ do￭ ster￭ on￭ ism also known as primary hyper￭ al￭ do￭ ster￭ on￭ ism or con￭ n s syndrome is excess production of the hormone al￭ do￭ ster￭ one by the adren￭ al g￭ lands resulting in low ren￭ in levels often it produces few symptoms most people have high blood pressure which may cause poor vision or headaches occasionally there may be muscular weakness muscle sp￭ as￭ ms ting￭ ling sens￭ ations or excessive ur￭ ination complications include cardiovascular disease such as stroke my￭ o￭ cardi￭ al inf￭ arc￭ tion kidney failure and abnormal heart rhy￭ th￭ ms
bar￭ tter syndrome
bar￭ tter syndrome is a rare inherited defect in the thick asc￭ ending limb of the loop of hen￭ le it is characterized by low potassium levels hypo￭ kal￭ emia increased blood ph al￭ k￭ alo￭ sis and normal to low blood pressure there are two types of bar￭ tter syndrome ne￭ on￭ atal and classic a closely associated disorder git￭ el￭ man syndrome is mil￭ der than both sub￭ types of bar￭ tter syndrome
ad￭ dison s disease
ad￭ dison ’ s disease also known as primary adren￭ al in￭ sufficiency is a long term endocrine disorder in which the adren￭ al g￭ lands do not produce enough ster￭ o￭ id hormones symptoms generally come on slowly and may include ab￭ domin￭ al pain weakness and weight loss dark￭ ening of the skin in certain areas may also occur under certain circumstances an adren￭ al crisis may occur with low blood pressure v￭ om￭ iting lower back pain and loss of consciousness an adren￭ al crisis can be triggered by stress such as from an injury surgery or infection
poly￭ c￭ ys￭ tic o￭ vary syndrome
poly￭ c￭ ys￭ tic o￭ vary syndrome p￭ cos is a set of symptoms due to elevated and￭ rog￭ ens male hormones in women signs and symptoms of p￭ cos include irregular or no men￭ str￭ ual periods heavy periods excess body and facial hair ac￭ ne pel￭ vic pain difficulty getting pregnant and pat￭ ches of thick darker vel￭ ve￭ ty skin associated conditions include type 2 diabetes obesity obstruc￭ tive sleep ap￭ ne￭ a heart disease mood disorders and end￭ ome￭ trial cancer
premature o￭ vari￭ an failure
hypo￭ gon￭ ad￭ ism
hypo￭ gon￭ ad￭ ism means diminished functional activity of the gon￭ ads — the test￭ es in males or the ov￭ aries in females — that may result in diminished sex hormone bio￭ synthesis in lay￭ man s terms it is sometimes called interrupted stage 1 pu￭ ber￭ ty low and￭ ro￭ gen e g te￭ sto￭ ster￭ one levels are referred to as hypo￭ and￭ ro￭ gen￭ ism and low estro￭ gen e g estr￭ adi￭ ol as hypo￭ estro￭ gen￭ ism and may occur as symptoms of hypo￭ gon￭ ad￭ ism in both sexes but are generally only diagnosed in males and females respectively other hormones produced by the gon￭ ads that hypo￭ gon￭ ad￭ ism can decrease include prog￭ est￭ er￭ one d￭ hea anti mü￭ ll￭ er￭ ian hormone activ￭ in and inhi￭ bin sper￭ mato￭ genesis in males and ov￭ ulation in females may be impaired by hypo￭ gon￭ ad￭ ism which depending on the degree of severity may result in partial or complete i
5 alpha reduc￭ t￭ ase deficiency
5 α reduc￭ t￭ ase deficiency 5 ard is an auto￭ som￭ al rec￭ essive inter￭ sex condition caused by a mutation of the 5 α reduc￭ t￭ ase type ii gene
delayed pu￭ ber￭ ty
pu￭ ber￭ ty is described as delayed pu￭ ber￭ ty with exceptions when an organism has passed the usual age of onset of pu￭ ber￭ ty with no physical or hormonal signs that it is beginning pu￭ ber￭ ty may be delayed for several years and still occur normally in which case it is considered constitutional delay of growth and pu￭ ber￭ ty a variation of healthy physical development delay of pu￭ ber￭ ty may also occur due to malnutrition many forms of systemic disease or to defects of the reproductive system hypo￭ gon￭ ad￭ ism or the body s responsiveness to sex hormones
pre￭ co￭ cious pu￭ ber￭ ty
in medicine pre￭ co￭ cious pu￭ ber￭ ty is pu￭ ber￭ ty occurring at an unusually early age in most cases the process is normal in every aspect except the unusually early age and simply represents a variation of normal development in a minority of children the early development is triggered by a disease such as a tumor or injury of the brain even when there is no disease unusually early pu￭ ber￭ ty can have adverse effects on social behavior and psychological development can reduce adult height potential and may shift some lifelong health risks central pre￭ co￭ cious pu￭ ber￭ ty can be treated by suppressing the pit￭ u￭ itary hormones that induce sex ster￭ o￭ id production
auto￭ immune poly￭ endocrine syndrome
in medicine auto￭ immune poly￭ endocrine syndro￭ mes ap￭ ss also called auto￭ immune poly￭ g￭ land￭ ular syndro￭ mes ap￭ ss poly￭ g￭ land￭ ular auto￭ immune syndro￭ mes p￭ g￭ ass or poly￭ endocrine auto￭ immune syndro￭ mes are a heterogeneous group of rare diseases characterized by auto￭ immune activity against more than one endocrine organ although non endocrine organs can be affected there are three types of aps or in terms that mean the same thing three ap￭ ss and there are a number of other diseases which have endocrine auto￭ immunity as one of their features
multiple endocrine ne￭ op￭ la￭ sia
the term multiple endocrine ne￭ op￭ la￭ sia men encompasses several distinct syndro￭ mes featuring tumors of endocrine g￭ lands each with its own characteristic pattern in some cases the tumors are m￭ align￭ ant in others benign benign or m￭ align￭ ant tumors of non￭ endocrine tissues occur as components of some of these tumor syndro￭ mes men syndro￭ mes are inherited as auto￭ som￭ al dominant disorders
psycho￭ social short stature
psycho￭ social short stature p￭ ss or psycho￭ social dwar￭ f￭ ism sometimes called psycho￭ genic or stress dwar￭ f￭ ism or kas￭ par ha￭ user syndrome is a growth disorder that is observed between the ages of 2 and 15 caused by extreme emotional deprivation or stress
lar￭ on syndrome
lar￭ on s syndrome or lar￭ on type dwar￭ f￭ ism is an auto￭ som￭ al rec￭ essive disorder characterized by an in￭ sensitivity to growth hormone gh usually caused by a mut￭ ant growth hormone recep￭ tor it causes short stature and an increased sensitivity to insulin which means that they are less likely to develop diabetes mell￭ it￭ us type 2 and possibly cancer as well it can be treated with injections of re￭ combin￭ ant ig￭ f 1
and￭ ro￭ gen in￭ sensitivity syndrome
and￭ ro￭ gen in￭ sensitivity syndrome ais is a condition that results in the partial or complete inability of the cell to respond to and￭ rog￭ ens the un￭ responsiveness of the cell to the presence of and￭ ro￭ genic hormones can impair or prevent the mascul￭ ini￭ zation of male gen￭ italia in the developing fe￭ tus as well as the development of male secondary sexual characteristics at pu￭ ber￭ ty but does not significantly impair female genital or sexual development as such the in￭ sensitivity to and￭ rog￭ ens is clin￭ ically significant only when it occurs in genetic males i e individuals with a y chro￭ mo￭ some or more specifically an s￭ ry gene clinical phen￭ o￭ types in these individuals range from a normal male habit￭ us with mild sper￭ mat￭ ogenic defect or reduced secondary terminal hair to a full female habit￭ us desp￭ it
and￭ ro￭ gen in￭ sensitivity syndrome ais is a condition that results in the partial or complete inability of the cell to respond to and￭ rog￭ ens the un￭ responsiveness of the cell to the presence of and￭ ro￭ genic hormones can impair or prevent the mascul￭ ini￭ zation of male gen￭ italia in the developing fe￭ tus as well as the development of male secondary sexual characteristics at pu￭ ber￭ ty but does not significantly impair female genital or sexual development as such the in￭ sensitivity to and￭ rog￭ ens is clin￭ ically significant only when it occurs in genetic males i e individuals with a y chro￭ mo￭ some or more specifically an s￭ ry gene clinical phen￭ o￭ types in these individuals range from a normal male habit￭ us with mild sper￭ mat￭ ogenic defect or reduced secondary terminal hair to a full female habit￭ us despite the presence of a y chro￭ mo￭ some ais is divided into three categories that are differentiated by the degree of genital mascul￭ ini￭ zation complete and￭ ro￭ gen in￭ sensitivity syndrome ca￭ is is indicated when the external gen￭ italia are that of a normal female mild and￭ ro￭ gen in￭ sensitivity syndrome ma￭ is is indicated when the external gen￭ italia are that of a normal male and partial and￭ ro￭ gen in￭ sensitivity syndrome pa￭ is is indicated when the external gen￭ italia are partially but not fully mascul￭ ini￭ zed and￭ ro￭ gen in￭ sensitivity syndrome is the largest single entity that leads to 46 xy under￭ mascul￭ ini￭ zed gen￭ italia
complete and￭ ro￭ gen in￭ sensitivity syndrome
complete and￭ ro￭ gen in￭ sensitivity syndrome ca￭ is is a condition that results in the complete inability of the cell to respond to and￭ rog￭ ens the un￭ responsiveness of the cell to the presence of and￭ ro￭ genic hormones prevents the mascul￭ ini￭ zation of male gen￭ italia in the developing fe￭ tus as well as the development of male secondary sexual characteristics at pu￭ ber￭ ty but does not significantly impair female genital or sexual development as such the in￭ sensitivity to and￭ rog￭ ens is only clin￭ ically significant when it occurs in genetic males i e individuals with a y chro￭ mo￭ some or more specifically an s￭ ry gene all affected individuals are phen￭ o￭ typically female they develop a normal female habit￭ us despite the presence of a y chro￭ mo￭ some
complete and￭ ro￭ gen in￭ sensitivity syndrome ca￭ is is a condition that results in the complete inability of the cell to respond to and￭ rog￭ ens the un￭ responsiveness of the cell to the presence of and￭ ro￭ genic hormones prevents the mascul￭ ini￭ zation of male gen￭ italia in the developing fe￭ tus as well as the development of male secondary sexual characteristics at pu￭ ber￭ ty but does not significantly impair female genital or sexual development as such the in￭ sensitivity to and￭ rog￭ ens is only clin￭ ically significant when it occurs in genetic males i e individuals with a y chro￭ mo￭ some or more specifically an s￭ ry gene all affected individuals are phen￭ o￭ typically female they develop a normal female habit￭ us despite the presence of a y chro￭ mo￭ some ca￭ is is one of the three categories of and￭ ro￭ gen in￭ sensitivity syndrome ais since ais is differentiated according to the degree of genital mascul￭ ini￭ zation complete and￭ ro￭ gen in￭ sensitivity syndrome ca￭ is when the external gen￭ italia is that of a normal female mild and￭ ro￭ gen in￭ sensitivity syndrome ma￭ is when the external gen￭ italia is that of a normal male and partial and￭ ro￭ gen in￭ sensitivity syndrome pa￭ is when the external gen￭ italia is partially but not fully mascul￭ ini￭ zed and￭ ro￭ gen in￭ sensitivity syndrome is the largest single entity that leads to 46 xy under￭ mascul￭ ini￭ zation
wer￭ ner syndrome
wer￭ ner syndrome ws also known as adult pro￭ geria is a rare auto￭ som￭ al rec￭ essive pro￭ ger￭ o￭ id syndrome ps which is characterized by the appearance of premature aging wer￭ ner syndrome is named after the german scientist otto wer￭ ner he identified the syndrome in four si￭ bl￭ ings observed with premature aging which he explored as the subject of his dis￭ ser￭ tation of 19￭ 04
pro￭ geria
pro￭ geria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age pro￭ geria is one of several pro￭ ger￭ o￭ id syndro￭ mes the word pro￭ geria comes from the greek words pro πρ￭ ό meaning before or premature and g￭ ē￭ ras γ￭ ῆ￭ ρ￭ ας meaning old age the disorder has a very low incidence rate occurring in an estimated 1 per 8 million live births those born with pro￭ geria typically live to their mid teens to early tw￭ en￭ ties it is a genetic condition that occurs as a new mutation and is rarely inherited as carriers usually do not live to reproduce although the term pro￭ geria applies strictly speaking to all diseases characterized by premature aging symptoms and is often used as such it is often applied specifically in reference to
pro￭ geria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age pro￭ geria is one of several pro￭ ger￭ o￭ id syndro￭ mes the word pro￭ geria comes from the greek words pro πρ￭ ό meaning before or premature and g￭ ē￭ ras γ￭ ῆ￭ ρ￭ ας meaning old age the disorder has a very low incidence rate occurring in an estimated 1 per 8 million live births those born with pro￭ geria typically live to their mid teens to early tw￭ en￭ ties it is a genetic condition that occurs as a new mutation and is rarely inherited as carriers usually do not live to reproduce although the term pro￭ geria applies strictly speaking to all diseases characterized by premature aging symptoms and is often used as such it is often applied specifically in reference to hut￭ chin￭ son – gil￭ ford pro￭ geria syndrome h￭ gps scientists are particularly interested in pro￭ geria because it might reveal clues about the normal process of aging pro￭ geria was first described in 18￭ 86 by jonathan hut￭ chin￭ son it was also described independently in 18￭ 97 by hast￭ ings gil￭ ford the condition was later named hut￭ chin￭ son – gil￭ ford pro￭ geria syndrome
k￭ was￭ hi￭ or￭ k￭ or
k￭ was￭ hi￭ or￭ k￭ or k￭ w￭ ɑ￭ ː￭ ʃ￭ i￭ ˈ￭ ɔ￭ ː￭ r￭ k￭ ə￭ r is a form of severe protein – energy malnutrition characterized by e￭ dem￭ a irrit￭ ability ul￭ cer￭ ating der￭ mato￭ ses and an enlarged liver with fatty infiltr￭ ates sufficient cal￭ orie intake but with insufficient protein consumption distinguishes it from mar￭ as￭ mus k￭ was￭ hi￭ or￭ k￭ or cases occur in areas of famine or poor food supply cases in the developed world are rare
malnutrition
malnutrition or mal￭ nour￭ ishment is a condition that results from eating a diet in which nutrients are either not enough or are too much such that the diet causes health problems it may involve cal￭ ories protein carbo￭ hydr￭ ates vitamins or minerals not enough nutrients is called under￭ nutrition or under￭ nour￭ ishment while too much is called overn￭ u￭ tri￭ tion malnutrition is often used specifically to refer to under￭ nutrition where there is not enough cal￭ ories protein or mic￭ ron￭ u￭ tri￭ ents if under￭ nutrition occurs during pregnancy or before two years of age it may result in permanent problems with physical and mental development extreme under￭ nour￭ ishment known as starvation may have symptoms that include a short height thin body very poor energy levels and sw￭ oll￭ en legs and ab￭ dom￭ en people a
mar￭ as￭ mus
mar￭ as￭ mus is a form of severe malnutrition characterized by energy deficiency a child with mar￭ as￭ mus looks em￭ aci￭ ated body weight is reduced to less than 60 of the normal expected body weight for the age mar￭ as￭ mus occurrence increases prior to age 1 whereas k￭ was￭ hi￭ or￭ k￭ or occurrence increases after 18 months it can be distinguished from k￭ was￭ hi￭ or￭ k￭ or in that k￭ was￭ hi￭ or￭ k￭ or is protein deficiency with adequate energy intake whereas mar￭ as￭ mus is inadequate energy intake in all forms including protein protein wasting in k￭ was￭ hi￭ or￭ k￭ or may lead to e￭ dem￭ a
vitamin deficiency
a vitamin deficiency can cause a disease or syndrome known as an av￭ it￭ amin￭ osis or hypo￭ vitam￭ in￭ osis this usually refers to a long term deficiency of a vitamin when caused by inadequate nutrition it can be classed as a primary deficiency and when due to an underlying disorder such as mal￭ absorption it can be classed as a secondary deficiency an underlying disorder may be metabol￭ ic as in a defect converting try￭ pt￭ oph￭ an to ni￭ ac￭ in it can also be the result of lifestyle choices including smoking and alcohol consumption
a vitamin deficiency can cause a disease or syndrome known as an av￭ it￭ amin￭ osis or hypo￭ vitam￭ in￭ osis this usually refers to a long term deficiency of a vitamin when caused by inadequate nutrition it can be classed as a primary deficiency and when due to an underlying disorder such as mal￭ absorption it can be classed as a secondary deficiency an underlying disorder may be metabol￭ ic as in a defect converting try￭ pt￭ oph￭ an to ni￭ ac￭ in it can also be the result of lifestyle choices including smoking and alcohol consumption examples are vitamin a deficiency fol￭ ate deficiency s￭ cur￭ vy vitamin d deficiency vitamin e deficiency and vitamin k deficiency in the medical literature any of these may also be called by names on the pattern of hypo￭ vitam￭ in￭ osis or av￭ it￭ amin￭ osis letter of vitamin for example hypo￭ vitam￭ in￭ osis a hypo￭ vitam￭ in￭ osis c hypo￭ vitam￭ in￭ osis d conversely hyper￭ vitam￭ in￭ osis is the syndrome of symptoms caused by over retention of fat soluble vitamins in the body
ber￭ iber￭ i
ber￭ iber￭ i refers to a cluster of symptoms caused primarily by thi￭ amine vitamin b 1 deficiency ber￭ iber￭ i has conventi￭ onally been divided into three separate entities relating to the body system mainly involved peripheral nervous system or cardiovascular or age of person like inf￭ anti￭ le ber￭ iber￭ i is one of several thi￭ amine deficiency related conditions which may occur con￭ currently including wer￭ nic￭ ke s encephalopathy mainly affecting the central nervous system kor￭ sak￭ off s syndrome amnesia with additional psychiatric manifestations and wer￭ nic￭ ke kor￭ sak￭ off syndrome with both neuro￭ logic and psychiatric symptoms
ber￭ iber￭ i refers to a cluster of symptoms caused primarily by thi￭ amine vitamin b 1 deficiency ber￭ iber￭ i has conventi￭ onally been divided into three separate entities relating to the body system mainly involved peripheral nervous system or cardiovascular or age of person like inf￭ anti￭ le ber￭ iber￭ i is one of several thi￭ amine deficiency related conditions which may occur con￭ currently including wer￭ nic￭ ke s encephalopathy mainly affecting the central nervous system kor￭ sak￭ off s syndrome amnesia with additional psychiatric manifestations and wer￭ nic￭ ke kor￭ sak￭ off syndrome with both neuro￭ logic and psychiatric symptoms historically ber￭ iber￭ i has been common in regions where what is vari￭ ously referred to as polis￭ hed or white rice forms a major part of the diet which has its hus￭ k removed to extend its shelf life and pal￭ at￭ ability but has the side effect of removing the primary source of thi￭ amine it was not known until the end of the 19 th century that polis￭ hing rice was associated with ber￭ iber￭ i
wer￭ nic￭ ke s encephalopathy
wer￭ nic￭ ke s encephalopathy or wer￭ nic￭ ke s disease refers to the presence of neuro￭ logical symptoms caused by bio￭ chemical le￭ sions of the central nervous system after exhaustion of b vitamin reserves in particular thi￭ amine vitamin b 1 the condition is part of a larger group of diseases related to thi￭ amine in￭ sufficiency including ber￭ iber￭ i in all its forms and kor￭ sak￭ off syndrome when wer￭ nic￭ ke s encephalopathy occurs simultaneously with kor￭ sak￭ off syndrome it is known as wer￭ nic￭ ke – kor￭ sak￭ off syndrome
wer￭ nic￭ ke – kor￭ sak￭ off syndrome
wer￭ nic￭ ke – kor￭ sak￭ off syndrome w￭ ks is the combined presence of wer￭ nic￭ ke s encephalopathy we and kor￭ sak￭ off s syndrome due to the close relationship between these two disorders people with both are usually diagnosed with w￭ ks as a single syndrome it is due to thi￭ amine vitamin b 1 deficiency which can cause a range of disorders including ber￭ iber￭ i wer￭ nic￭ ke s encephalopathy and kor￭ sak￭ off s psycho￭ sis these disorders may manifest together or separately w￭ ks is usually secondary to alcohol abuse it mainly causes vision changes at￭ ax￭ ia and impaired memory
wer￭ nic￭ ke – kor￭ sak￭ off syndrome w￭ ks is the combined presence of wer￭ nic￭ ke s encephalopathy we and kor￭ sak￭ off s syndrome due to the close relationship between these two disorders people with both are usually diagnosed with w￭ ks as a single syndrome it is due to thi￭ amine vitamin b 1 deficiency which can cause a range of disorders including ber￭ iber￭ i wer￭ nic￭ ke s encephalopathy and kor￭ sak￭ off s psycho￭ sis these disorders may manifest together or separately w￭ ks is usually secondary to alcohol abuse it mainly causes vision changes at￭ ax￭ ia and impaired memory wer￭ nic￭ ke s encephalopathy and w￭ ks is most commonly seen in people who are alcoholic and only 20 of cases are identified before death this failure in diagnosis of we and thus treatment of the disease leads to death in approximately 20 of cases while 75 are left with permanent brain damage associated with w￭ ks of those affected 25 require long term institution￭ alization in order to receive effective care
p￭ ell￭ ag￭ ra
p￭ ell￭ ag￭ ra is a vitamin deficiency disease most frequently caused by a chronic lack of ni￭ ac￭ in vitamin b 3 or vitamin pp from p￭ ell￭ ag￭ ra preventing factor in the diet it can be caused by decreased intake of ni￭ ac￭ in or try￭ pt￭ oph￭ an and possibly by excessive intake of le￭ uc￭ ine it may also result from alterations in protein metabol￭ ism in disorders such as carcin￭ o￭ id syndrome or har￭ tn￭ up disease a deficiency of the amino acid lys￭ ine can lead to a deficiency of ni￭ ac￭ in as well
vitamin b 12 deficiency
vitamin b 12 deficiency also known as hypo￭ co￭ bal￭ amin￭ emia refers to low blood levels of vitamin b 12 a wide variety of signs and symptoms may occur including a decreased ability to think and behavi￭ our￭ al and emotional changes such as depression irrit￭ ability and psycho￭ sis abnormal sens￭ ations changes in refl￭ exes and poor muscle function can also occur as may infl￭ amm￭ ation of the tongue decreased taste low red blood cells reduced heart function and decreased fertility in young children symptoms include poor growth poor development and difficulties with movement without early treatment some of the changes may be permanent
vitamin b 12 deficiency also known as hypo￭ co￭ bal￭ amin￭ emia refers to low blood levels of vitamin b 12 a wide variety of signs and symptoms may occur including a decreased ability to think and behavi￭ our￭ al and emotional changes such as depression irrit￭ ability and psycho￭ sis abnormal sens￭ ations changes in refl￭ exes and poor muscle function can also occur as may infl￭ amm￭ ation of the tongue decreased taste low red blood cells reduced heart function and decreased fertility in young children symptoms include poor growth poor development and difficulties with movement without early treatment some of the changes may be permanent common causes include poor absorption from the stomach or intest￭ ines decreased intake and increased requirements decreased absorption may be due to pernicious an￭ emia surgical removal of the stomach chronic infl￭ amm￭ ation of the pan￭ cre￭ as intest￭ inal parasites certain medications and some genetic disorders decreased intake may occur in those who eat a ve￭ gan diet or have malnutrition increased requirements occur in hiv aids and in those with rapid red blood cell breakdown diagnosis is typically based on vitamin b 12 blood levels below 120 – 180 pi￭ com￭ ol l 170 – 250 pg ml in adults elevated meth￭ yl￭ mal￭ onic acid levels values 0 4 micro￭ mol l may also indicate a deficiency a type of low red blood cells known as meg￭ alo￭ bl￭ astic an￭ emia is often but not always present supplem￭ entation is recommended to prevent deficiency in vege￭ tari￭ ans who are pregnant once identified it is easily treated with supplem￭ entation by mouth or injection there are no concerns from excess vitamin b 12 among those who are otherwise healthy some cases may also be helped by treating the underlying cause other cases may require ongoing supplem￭ entation as the underlying cause is not cur￭ able vitamin b 12 deficiency is common it is estimated to occur in about 6 of those under the age of 60 and 20 of those over the age of 60 rates may be as high as 80 in parts of africa and asia
bio￭ tin￭ id￭ ase deficiency
s￭ cur￭ vy
s￭ cur￭ vy is a disease resulting from a lack of vitamin c early symptoms include weakness feeling tired cur￭ ly hair and sore arms and legs without treatment low red blood cells gum disease and bleeding from the skin may occur as s￭ cur￭ vy wor￭ sens there can be poor wound healing personality changes and finally death from infection or bleeding
ric￭ kets
ric￭ kets is defective miner￭ alization or calci￭ fication of bones before ep￭ ip￭ hy￭ seal closure in immature mammals due to deficiency or impaired metabol￭ ism of vitamin d phosphorus or calcium potentially leading to fractu￭ res and de￭ form￭ ity ric￭ kets is among the most frequent childhood diseases in many developing countries the predominant cause is a vitamin d deficiency but lack of adequate calcium in the diet may also lead to ric￭ kets cases of severe diarr￭ hea and v￭ om￭ iting may be the cause of the deficiency although it can occur in adults the majority of cases occur in children suffering from severe malnutrition usually resulting from famine or starvation during the early stages of childhood
ric￭ kets is defective miner￭ alization or calci￭ fication of bones before ep￭ ip￭ hy￭ seal closure in immature mammals due to deficiency or impaired metabol￭ ism of vitamin d phosphorus or calcium potentially leading to fractu￭ res and de￭ form￭ ity ric￭ kets is among the most frequent childhood diseases in many developing countries the predominant cause is a vitamin d deficiency but lack of adequate calcium in the diet may also lead to ric￭ kets cases of severe diarr￭ hea and v￭ om￭ iting may be the cause of the deficiency although it can occur in adults the majority of cases occur in children suffering from severe malnutrition usually resulting from famine or starvation during the early stages of childhood o￭ ste￭ om￭ al￭ ac￭ ia is a similar condition occurring in adults generally due to a deficiency of vitamin d but occurs after ep￭ ip￭ hy￭ seal closure
sel￭ en￭ ium deficiency
iron deficiency
iron deficiency is the most common nutritional deficiency in the world iron is present in all cells in the human body and has several vital functions such as carrying oxygen to the tissues from the lungs as a key component of the h￭ emo￭ glob￭ in protein acting as a transport medium for electron￭ s within the cells in the form of cy￭ to￭ chro￭ mes facilitating oxygen use and storage in the muscles as a component of my￭ o￭ glob￭ in and as an integral part of enzyme reactions in various tissues too little iron can interfere with these vital functions and lead to morbi￭ dity and death
magnesium deficiency medicine
magnesium deficiency or hypo￭ magnesia not to be confused with hypo￭ mag￭ nes￭ emia refers to inadequate intake of dietary magnesium or impaired absorption of magnesium which can result in numerous symptoms and diseases it is generally corrected by an increase of magnesium in diet oral supplements and in severe cases intra￭ ven￭ ous supplem￭ entation
ab￭ domin￭ al obesity
ab￭ domin￭ al obesity also known as central obesity is when excessive ab￭ domin￭ al fat around the stomach and ab￭ dom￭ en has built up to the extent that it is likely to have a negative impact on health there is a strong correlation between central obesity and cardiovascular disease ab￭ domin￭ al obesity is not confined only to the elderly and ob￭ ese subjects ab￭ domin￭ al obesity has been linked to alzheimer s disease as well as other metabol￭ ic and vascular diseases vis￭ cer￭ al and central ab￭ domin￭ al fat and wa￭ ist circum￭ fer￭ ence show a strong association with type 2 diabetes
ab￭ domin￭ al obesity also known as central obesity is when excessive ab￭ domin￭ al fat around the stomach and ab￭ dom￭ en has built up to the extent that it is likely to have a negative impact on health there is a strong correlation between central obesity and cardiovascular disease ab￭ domin￭ al obesity is not confined only to the elderly and ob￭ ese subjects ab￭ domin￭ al obesity has been linked to alzheimer s disease as well as other metabol￭ ic and vascular diseases vis￭ cer￭ al and central ab￭ domin￭ al fat and wa￭ ist circum￭ fer￭ ence show a strong association with type 2 diabetes vis￭ cer￭ al fat also known as organ fat or intra ab￭ domin￭ al fat is located inside the per￭ it￭ one￭ al cav￭ ity packed in between internal organs and tor￭ so as opposed to sub￭ cu￭ taneous fat ‚ which is found underneath the skin and intr￭ amus￭ cular fat ‚ which is found inter￭ s￭ pers￭ ed in sk￭ el￭ etal muscle vis￭ cer￭ al fat is composed of several adi￭ pose de￭ pots including mes￭ enter￭ ic epi￭ di￭ dy￭ mal white adi￭ pose tissue ew￭ at and peri￭ ren￭ al fat an excess of vis￭ cer￭ al fat is known as central obesity the pot belly or beer belly effect in which the ab￭ dom￭ en pro￭ tru￭ des excessively this body type is also known as apple shaped ‚ as opposed to pear shaped ‚ in which fat is deposited on the hips and but￭ toc￭ ks researchers first started to focus on ab￭ domin￭ al obesity in the 1980 s when they realized that it had an important connection to cardiovascular disease diabetes and dys￭ li￭ pi￭ dem￭ ia ab￭ domin￭ al obesity was more closely related with metabol￭ ic dys￭ functions connected with cardiovascular disease than was general obesity in the late 1980 s and early 1990 s insi￭ ghtful and powerful imaging techniques were discovered that would further help advance the understanding of the health risks associated with body fat accumulation techniques such as compu￭ ted tom￭ o￭ graphy and magnetic resonance imaging made it possible to categ￭ ori￭ ze mass of adi￭ pose tissue located at the ab￭ domin￭ al level into intra ab￭ domin￭ al fat and sub￭ cu￭ taneous fat
obesity
obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health people are generally considered ob￭ ese when their body mass index b￭ mi a measurement obtained by dividing a person s weight by the square of the person s height is over 30 kg m 2 with the range 25 – 30 kg m 2 defined as overweight some east asian countries use lower values obesity increases the likelihood of various diseases particularly heart disease type 2 diabetes obstruc￭ tive sleep ap￭ ne￭ a certain types of cancer and o￭ ste￭ o￭ ar￭ thri￭ tis
overweight
overweight is having more body fat than is optim￭ ally healthy being overweight is common especially where food supplies are plentiful and lifestyles are sed￭ entary excess weight has reached epidemic proportions globally with more than 1 billion adults being either overweight or ob￭ ese in 2003 in 2013 this increased to more than 2 billion increases have been observed across all age groups
obesity hypo￭ ventilation syndrome
obesity hypo￭ ventilation syndrome also known as pick￭ wick￭ ian syndrome is a condition in which severely overweight people fail to breathe rapidly enough or deeply enough resulting in low blood oxygen levels and high blood carbon dioxide co 2 levels many people with this condition also frequently stop breathing altogether for short periods of time during sleep obstruc￭ tive sleep ap￭ ne￭ a resulting in many partial awak￭ enings during the night which leads to continual sleep￭ iness during the day the disease puts strain on the heart which eventually may lead to the symptoms such as heart failure leg sw￭ elling and various other related symptoms the most effective treatment is weight loss but it is often possible to relieve the symptoms by no￭ c￭ tur￭ nal ventilation with positive air￭ way pressure
hyper￭ vitam￭ in￭ osis
hyper￭ vitam￭ in￭ osis refers to a condition of abnormally high storage levels of vitamins which can lead to toxic symptoms the medical names of the different conditions are derived from the vitamin involved an excess of vitamin a for example is called hyper￭ vitam￭ in￭ osis a hyper￭ vitam￭ in￭ osis primarily affects the fat soluble vitamins as these are stored by the body for longer period than the water soluble vitamins however avoiding excesses of both classes of vitamins can make the condition hard to get
hyper￭ vitam￭ in￭ osis refers to a condition of abnormally high storage levels of vitamins which can lead to toxic symptoms the medical names of the different conditions are derived from the vitamin involved an excess of vitamin a for example is called hyper￭ vitam￭ in￭ osis a hyper￭ vitam￭ in￭ osis primarily affects the fat soluble vitamins as these are stored by the body for longer period than the water soluble vitamins however avoiding excesses of both classes of vitamins can make the condition hard to get generally toxic levels of vitamins stem from high supplement intake and not from dietary sources tox￭ ic￭ ities of fat soluble vitamins can also be caused by a large intake of highly fortified foods but foods rarely deliver dangerous levels of fat soluble vitamins the dietary reference intake recommendations from the united states department of agriculture define a tolerable upper intake level for most vitamins high do￭ sage vitamin a high do￭ sage slow release vitamin b 3 and very high do￭ sage vitamin b 6 alone i e without vitamin b complex are sometimes associated with vitamin side effects that usually rapidly cease with supplement reduction or cessation
hyper￭ vitam￭ in￭ osis d
hyper￭ vitam￭ in￭ osis d is a state of vitamin d toxicity the normal range for blood concentration is 30 0 to 74 0 nano￭ grams per milli￭ lit￭ er ng ml
metabol￭ ic disorder
phen￭ yl￭ ke￭ ton￭ ur￭ ia
phen￭ yl￭ ke￭ ton￭ ur￭ ia p￭ ku is an in￭ born error of metabol￭ ism that results in decreased metabol￭ ism of the amino acid phen￭ yl￭ alan￭ ine untreated p￭ ku can lead to intellectual disability seizures behavioral problems and mental disorder it may also result in a mu￭ sty smell and lighter skin babies born to mothers who have poorly treated p￭ ku may have heart problems a small head and low birth weight
phen￭ yl￭ ke￭ ton￭ ur￭ ia p￭ ku is an in￭ born error of metabol￭ ism that results in decreased metabol￭ ism of the amino acid phen￭ yl￭ alan￭ ine untreated p￭ ku can lead to intellectual disability seizures behavioral problems and mental disorder it may also result in a mu￭ sty smell and lighter skin babies born to mothers who have poorly treated p￭ ku may have heart problems a small head and low birth weight phen￭ yl￭ ke￭ ton￭ ur￭ ia is a genetic disorder inherited from a person s parents it is due to mutations in the p￭ ah gene which results in low levels of the enzyme phen￭ yl￭ alan￭ ine hydrox￭ yl￭ ase this results in the build up of dietary phen￭ yl￭ alan￭ ine to potentially toxic levels it is auto￭ som￭ al rec￭ essive meaning that both copies of the gene must be mut￭ ated for the condition to develop there are two main types classic p￭ ku and variant p￭ ku depending on if any enzyme function remains those with one copy of a mut￭ ated gene typically do not have symptoms many countries have new￭ born screening programs for the disease treatment is with a diet low in foods that contain phen￭ yl￭ alan￭ ine and special supplements babies should use a special formula the diet should begin as soon as possible after birth and be lifelong people who are diagnosed early and maintain a strict diet can have normal health and a normal life span effectiveness is monitored through periodic blood tests the medication sa￭ prop￭ ter￭ in di￭ hydro￭ chloride may be useful in some phen￭ yl￭ ke￭ ton￭ ur￭ ia affects about one in 10 000 to 25 000 babies males and females are affected equally the disease was discovered in 19￭ 34 by iv￭ ar as￭ b￭ jør￭ n fø￭ lling with the importance of diet determined in 1953 gene therapy while promising requires a great deal more study as of 2014
ty￭ ro￭ sin￭ emia
ty￭ ro￭ sin￭ emia or ty￭ ro￭ sin￭ aemia is an error of metabol￭ ism usually in￭ born in which the body cannot effectively break down the amino acid ty￭ ros￭ ine symptoms include liver and kidney disturbances and intellectual disability untreated ty￭ ro￭ sin￭ emia can be fatal most in￭ born forms of ty￭ ro￭ sin￭ emia produce hyper￭ ty￭ ro￭ sin￭ emia high levels of ty￭ ros￭ ine
type i ty￭ ro￭ sin￭ emia
type 1 ty￭ ro￭ sin￭ emia also known as he￭ pat￭ o￭ ren￭ al ty￭ ro￭ sin￭ emia or ty￭ ro￭ sin￭ osis is the most severe form of ty￭ ro￭ sin￭ emia a buil￭ dup of too much of the amino acid ty￭ ros￭ ine in the blood and tissues due to an inability to met￭ abo￭ li￭ ze it it is caused by a deficiency of the enzyme fu￭ mar￭ yl￭ ace￭ to￭ acetate hydro￭ l￭ ase
al￭ kap￭ ton￭ ur￭ ia
al￭ kap￭ ton￭ ur￭ ia black urine disease black bone disease or al￭ cap￭ ton￭ ur￭ ia is a rare inherited genetic disorder in which the body cannot process the amino acids phen￭ yl￭ alan￭ ine and ty￭ ros￭ ine which occur in protein it is caused by a mutation in the hg￭ d gene for the enzyme hom￭ og￭ enti￭ sate 1 2 diox￭ y￭ gen￭ ase ec 1 13 11 5 if a person inher￭ its abnormal copies from each parent it is a rec￭ essive condition the body accumul￭ ates an intermediate substance called hom￭ og￭ enti￭ sic acid in the blood and tissues hom￭ og￭ enti￭ sic acid and its oxid￭ ated form al￭ kap￭ ton are ex￭ cre￭ ted in the urine giving it an unusually dark color the accumulating hom￭ og￭ enti￭ sic acid causes damage to car￭ til￭ age och￭ ro￭ no￭ sis leading to o￭ ste￭ o￭ ar￭ thri￭ tis and heart valves as well as precipit￭ ating as kidney stones and stones in other organs sym￭ p
och￭ ro￭ no￭ sis
oc￭ ular al￭ bin￭ ism type 1
oc￭ ular al￭ bin￭ ism type 1 oa 1 also called net￭ t￭ les￭ hip – falls syndrome is the most common type of oc￭ ular al￭ bin￭ ism with a prevalence rate of 1 50 000 it is an inher￭ itable classical men￭ deli￭ an type x linked rec￭ essive disorder where￭ in the re￭ tin￭ al pig￭ ment epi￭ the￭ lium lacks pig￭ ment while hair and skin appear normal since it is an x linked disorder it occurs mostly in males while females are carriers unless they are homo￭ zy￭ g￭ ous about 60 mis￭ sense and nonsense mutations inser￭ tions and dele￭ tions have been identified in oa 1 mutations in oa 1 have been linked to defective gly￭ co￭ syl￭ ation and thus improper in￭ trac￭ ell￭ ular transportation
al￭ bin￭ ism
al￭ bin￭ ism in humans is a con￭ genital disorder characterized by the complete or partial absence of pig￭ ment in the skin hair and eyes al￭ bin￭ ism is associated with a number of vision defects such as pho￭ top￭ ho￭ bia ny￭ stag￭ mus and am￭ bl￭ y￭ op￭ ia lack of skin pi￭ gm￭ entation makes for more suscep￭ tibility to sun￭ burn and skin cancers in rare cases such as ch￭ é￭ di￭ ak – hig￭ ashi syndrome al￭ bin￭ ism may be associated with deficiencies in the transportation of mel￭ an￭ in gran￭ ules this also affects essential gran￭ ules present in immune cells leading to increased suscep￭ tibility to infection
al￭ bin￭ ism in humans is a con￭ genital disorder characterized by the complete or partial absence of pig￭ ment in the skin hair and eyes al￭ bin￭ ism is associated with a number of vision defects such as pho￭ top￭ ho￭ bia ny￭ stag￭ mus and am￭ bl￭ y￭ op￭ ia lack of skin pi￭ gm￭ entation makes for more suscep￭ tibility to sun￭ burn and skin cancers in rare cases such as ch￭ é￭ di￭ ak – hig￭ ashi syndrome al￭ bin￭ ism may be associated with deficiencies in the transportation of mel￭ an￭ in gran￭ ules this also affects essential gran￭ ules present in immune cells leading to increased suscep￭ tibility to infection al￭ bin￭ ism results from inheritance of rec￭ essive gene all￭ el￭ es and is known to affect all vertebr￭ ates including humans it is due to absence or defect of ty￭ ro￭ sin￭ ase a copper containing enzyme involved in the production of mel￭ an￭ in it is the opposite of mel￭ anism unlike humans other animals have multiple pig￭ ments and for these al￭ bin￭ ism is considered to be a hereditary condition characterised by the absence of mel￭ an￭ in in particular in the eyes skin hair scales feathers or cu￭ tic￭ le while an organism with complete absence of mel￭ an￭ in is called an al￭ bin￭ o an organism with only a diminished amount of mel￭ an￭ in is described as le￭ uc￭ istic or al￭ bin￭ o￭ id the term is from the latin al￭ bus white
oc￭ ul￭ o￭ cu￭ taneous al￭ bin￭ ism
cross syndrome
cross – mc￭ k￭ us￭ ick – bre￭ en syndrome also known as cross syndrome hypo￭ pi￭ gm￭ entation and micro￭ phthal￭ mia and oc￭ ul￭ oc￭ ere￭ br￭ al hypo￭ pi￭ gm￭ entation syndrome is an extremely rare disorder characterized by white skin blond hair with yellow gray metallic she￭ en small eyes with clou￭ dy cor￭ ne￭ as jer￭ ky ny￭ stag￭ mus g￭ ing￭ i￭ val fi￭ bro￭ mat￭ osis and severe mental and physical retar￭ dation it was characterized in 1967
ch￭ é￭ di￭ ak – hig￭ ashi syndrome
ch￭ é￭ di￭ ak – hig￭ ashi syndrome is a rare auto￭ som￭ al rec￭ essive disorder that arises from a mutation of a ly￭ so￭ som￭ al trafficking regulator protein which leads to a decrease in p￭ ha￭ go￭ cy￭ to￭ sis the decrease in p￭ ha￭ go￭ cy￭ to￭ sis results in recurrent py￭ ogenic infections partial al￭ bin￭ ism and peripheral neuro￭ pa￭ thy it occurs in humans cattle blue persian cats australian blue rats mice min￭ k fo￭ xes and the only known captive al￭ bin￭ o or￭ ca
waar￭ denburg syndrome
waar￭ denburg syndrome is a rare genetic disorder most often characterized by varying degrees of deaf￭ ness minor defects in structures arising from the ne￭ ural c￭ rest and pi￭ gm￭ entation changes it was first described in 1951
pie￭ bal￭ dis￭ m
pie￭ bal￭ dis￭ m is a rare auto￭ som￭ al dominant disorder of mel￭ an￭ oc￭ y￭ te development common characteristics include a con￭ genital white fore￭ lock scattered normal pi￭ gm￭ ented and hypo￭ pi￭ gm￭ ented mac￭ ules and a tri￭ ang￭ ular shaped de￭ pi￭ gm￭ ented patch on the fore￭ head there is nevertheless great variation in the degree and pattern of presentation even within affected families in some cases pie￭ bal￭ dis￭ m occurs together with severe developmental problems as in waar￭ denburg syndrome and hir￭ sch￭ sp￭ rung s disease it has been documented to occur in all races early photograph￭ ers captured many images of african pie￭ bal￭ ds used as a form of amusement and george cat￭ lin is believed to have painted several por￭ traits of native americans of the man￭ dan tribe who were affected by pie￭ bal￭ dis￭ m pie￭ bal￭ dis￭ m is found in nearly ever
pie￭ bal￭ dis￭ m is a rare auto￭ som￭ al dominant disorder of mel￭ an￭ oc￭ y￭ te development common characteristics include a con￭ genital white fore￭ lock scattered normal pi￭ gm￭ ented and hypo￭ pi￭ gm￭ ented mac￭ ules and a tri￭ ang￭ ular shaped de￭ pi￭ gm￭ ented patch on the fore￭ head there is nevertheless great variation in the degree and pattern of presentation even within affected families in some cases pie￭ bal￭ dis￭ m occurs together with severe developmental problems as in waar￭ denburg syndrome and hir￭ sch￭ sp￭ rung s disease it has been documented to occur in all races early photograph￭ ers captured many images of african pie￭ bal￭ ds used as a form of amusement and george cat￭ lin is believed to have painted several por￭ traits of native americans of the man￭ dan tribe who were affected by pie￭ bal￭ dis￭ m pie￭ bal￭ dis￭ m is found in nearly every species of mamm￭ al it is very common in mice rabbits dogs sheep deer cattle and horses — where selective breeding has increased the incidence of the mutation but occurs among chimp￭ an￭ ze￭ es and other pri￭ mates only as rarely as among humans pie￭ bal￭ dis￭ m is completely unrelated to acquired or infectious conditions such as viti￭ li￭ go or poli￭ osis pie is a word for multi colored and bald is related to a root word for skin although pie￭ bal￭ dis￭ m may vis￭ ually appear to be partial al￭ bin￭ ism it is a fundamentally different condition the vision problems associated with al￭ bin￭ ism are not usually present as eye pi￭ gm￭ entation is normal pie￭ bal￭ dis￭ m differs from al￭ bin￭ ism in that the affected cells maintain the ability to produce pig￭ ment but have that specific function turned off in al￭ bin￭ ism the cells lack the ability to produce pig￭ ment altogether human pie￭ bal￭ dis￭ m has been observed to be associated with a very wide range and varying degrees of endocrine disorders and is occasionally found together with heter￭ och￭ ro￭ mia of the ir￭ ises con￭ genital deaf￭ ness or incomplete gastro￭ intest￭ inal tract development possibly all with the common cause of premature cutting off of human fe￭ tal growth hormone during gest￭ ation pie￭ bal￭ dis￭ m is a kind of neuro￭ cr￭ ist￭ opathy involving defects of various ne￭ ural c￭ rest cell line￭ ages that include mel￭ an￭ oc￭ y￭ tes but also involving many other tissues derived from the ne￭ ural c￭ rest on￭ co￭ genic factors including mis￭ trans￭ cription are hypothe￭ sized to be related to the degree of phen￭ o￭ typ￭ ic variation among affected individuals this is an auto￭ som￭ al dominant hereditary condition which tends to produce high rates of inheritance and long chains of generational transmission all who inherit the gene have at some time in life evidence of pie￭ bald hypo￭ pi￭ gm￭ entation of the hair or skin most likely both historically persons with extensive pie￭ bal￭ dis￭ m have experienced abuse of the sort still suffered in the present by al￭ bin￭ os especially in africa this has rang￭ ed from display of un￭ clo￭ thed african pie￭ bal￭ ds in freak shows and post cards of the early twentieth century to the forcing of pie￭ bal￭ ds as in the case of al￭ bin￭ os to work long hours exposed to the sun producing high rates of lethal skin cancers to the use of pie￭ bald humans including children in risky medical experiments the national organization of al￭ bin￭ ism and hypo￭ pi￭ gm￭ entation as well as organizations such as under the same sun work to promote awareness of all forms of cu￭ taneous variation and their medical implications and to highlight human rights issues especially the plight of al￭ bin￭ os subject to extreme persecution in parts of africa pie￭ bal￭ dis￭ m may be associated with the genes kit or sna￭ i 2
herman￭ sky – pu￭ d￭ la￭ k syndrome
herman￭ sky – pu￭ d￭ la￭ k syndrome h￭ ps is an extremely rare auto￭ som￭ al rec￭ essive disorder which results in oc￭ ul￭ o￭ cu￭ taneous al￭ bin￭ ism decreased pi￭ gm￭ entation bleeding problems due to a plat￭ elet ab￭ normality plat￭ elet storage pool defect and storage of an abnormal fat protein compound ly￭ so￭ som￭ al accumulation of cer￭ o￭ id li￭ po￭ fus￭ cin it is considered to affect around 1 in 500 000 people worldwide with a significantly higher occurrence in puerto ric￭ ans with a prevalence of 1 in 1800 many of the clinical research studies on the disease have been conducted in puerto rico
map￭ le syrup urine disease
map￭ le syrup urine disease m￭ su￭ d also called bran￭ ched chain ke￭ to￭ ac￭ id￭ ur￭ ia is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder affecting bran￭ ched chain amino acids it is one type of organic aci￭ dem￭ ia the condition gets its name from the distinctive sweet od￭ or of affected infants urine particularly prior to diagnosis and during times of acute illness
meth￭ yl￭ mal￭ onic aci￭ dem￭ ia
meth￭ yl￭ mal￭ onic aci￭ dem￭ ia m￭ ma also called meth￭ yl￭ mal￭ onic ac￭ id￭ ur￭ ia is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder it is a classical type of organic aci￭ dem￭ ia the result of this condition is the inability to properly dig￭ est specific fats and proteins which in turn leads to a buil￭ dup of a toxic level of meth￭ yl￭ mal￭ onic acid in the blood
meth￭ yl￭ mal￭ onic aci￭ dem￭ ia m￭ ma also called meth￭ yl￭ mal￭ onic ac￭ id￭ ur￭ ia is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder it is a classical type of organic aci￭ dem￭ ia the result of this condition is the inability to properly dig￭ est specific fats and proteins which in turn leads to a buil￭ dup of a toxic level of meth￭ yl￭ mal￭ onic acid in the blood meth￭ yl￭ mal￭ onic aci￭ dem￭ ia stems from several geno￭ types all forms of the disorder usually diagnosed in the early ne￭ on￭ atal period presenting progressive encephalopathy and secondary hyper￭ ammon￭ emia the disorder can result in death if un￭ diagnosed or left untreated it is estimated that this disorder has a frequency of 1 in 48 000 births though the high mortality rate in diagnosed cases make exact determination difficult meth￭ yl￭ mal￭ onic aci￭ dem￭ ias are found with an equal frequency across ethnic boundaries
ad￭ re￭ no￭ leuko￭ dy￭ stro￭ phy
ad￭ re￭ no￭ leuko￭ dy￭ stro￭ phy ˌ￭ lu ko￭ ʊ ˈ￭ dis tr￭ ə fi￭ ː also known as x linked ad￭ re￭ no￭ leuko￭ dy￭ stro￭ phy ald x ald si￭ emer￭ ling – creutz￭ feldt disease or bron￭ ze sch￭ il￭ der disease is a disease that is linked on the x chro￭ mo￭ some it is a result of fatty acid dig￭ estive enzymes not breaking up the fats these fats build up in the brain they damage the my￭ elin that surrounds nerves this can cause seizures and hyper￭ activity it can also cause problems with speaking listening and understanding verbal instructions
medium chain ac￭ yl co￭ enzyme a de￭ hydro￭ gen￭ ase deficiency
medium chain ac￭ yl co￭ a de￭ hydro￭ gen￭ ase deficiency often known as mc￭ ad deficiency or mc￭ add is a disorder of fatty acid oxid￭ ation that imp￭ airs the body s ability to break down medium chain fatty acids into ace￭ ty￭ l co￭ a the disorder is characterized by hypo￭ gly￭ cem￭ ia and sudden death without timely intervention most often brought on by periods of fast￭ ing or v￭ om￭ iting prior to expanded new￭ born screening mc￭ add was an under￭ diagnosed cause of sudden death in infants individuals who have been identified prior to the onset of symptoms have an excellent prog￭ no￭ sis
oc￭ ul￭ oc￭ ere￭ bro￭ ren￭ al syndrome
oc￭ ul￭ oc￭ ere￭ bro￭ ren￭ al syndrome also called lowe syndrome is a rare x linked rec￭ essive disorder characterized by con￭ genital cat￭ ar￭ acts hy￭ pot￭ onia and a￭ refl￭ ex￭ ia intellectual disability proxim￭ al tu￭ bul￭ ar aci￭ do￭ sis am￭ ino￭ ac￭ id￭ ur￭ ia phosp￭ hat￭ ur￭ ia and low molecular weight prote￭ in￭ ur￭ ia gl￭ au￭ coma is present in about 50 of cases lowe syndrome can be considered a cause of fan￭ coni syndrome bic￭ ar￭ bon￭ atur￭ ia ren￭ al tu￭ bul￭ ar aci￭ do￭ sis am￭ ino￭ ac￭ id￭ ur￭ ia phosp￭ hat￭ ur￭ ia tu￭ bul￭ ar prote￭ in￭ ur￭ ia and impaired urine concentrating ability
fan￭ coni syndrome
fan￭ coni syndrome or fan￭ coni s syndrome english f￭ ɑ￭ ː￭ n￭ ˈ￭ ko￭ ʊ￭ ni f￭ æ￭ n is a syndrome of inadequate re￭ absorption in the proxim￭ al ren￭ al tu￭ bul￭ es of the kidney the syndrome can be caused by various underlying con￭ genital or acquired diseases by toxicity for example from toxic heavy metals or by adverse drug reactions it results in various small molecules of metabol￭ ism being passed into the urine instead of being re￭ absorbed from the tu￭ bul￭ ar fluid for example glucose amino acids ur￭ ic acid phosphate and bic￭ ar￭ bon￭ ate fan￭ coni syndrome affects the proxim￭ al tu￭ bul￭ es namely the proxim￭ al con￭ volu￭ ted tu￭ bu￭ le pc￭ t which is the first part of the tu￭ bu￭ le to process fluid after it is filtered through the glo￭ mer￭ ul￭ us and the proxim￭ al straight tu￭ bu￭ le par￭ s rec￭ ta which leads to the descending lim
fan￭ coni syndrome or fan￭ coni s syndrome english f￭ ɑ￭ ː￭ n￭ ˈ￭ ko￭ ʊ￭ ni f￭ æ￭ n is a syndrome of inadequate re￭ absorption in the proxim￭ al ren￭ al tu￭ bul￭ es of the kidney the syndrome can be caused by various underlying con￭ genital or acquired diseases by toxicity for example from toxic heavy metals or by adverse drug reactions it results in various small molecules of metabol￭ ism being passed into the urine instead of being re￭ absorbed from the tu￭ bul￭ ar fluid for example glucose amino acids ur￭ ic acid phosphate and bic￭ ar￭ bon￭ ate fan￭ coni syndrome affects the proxim￭ al tu￭ bul￭ es namely the proxim￭ al con￭ volu￭ ted tu￭ bu￭ le pc￭ t which is the first part of the tu￭ bu￭ le to process fluid after it is filtered through the glo￭ mer￭ ul￭ us and the proxim￭ al straight tu￭ bu￭ le par￭ s rec￭ ta which leads to the descending limb of the loop of hen￭ le different forms of fan￭ coni syndrome can affect different functions of the proxim￭ al tu￭ bu￭ le and result in different complications the loss of bic￭ ar￭ bon￭ ate results in type 2 or proxim￭ al ren￭ al tu￭ bul￭ ar aci￭ do￭ sis the loss of phosphate results in the bone diseases ric￭ kets and o￭ ste￭ om￭ al￭ ac￭ ia even with adequate vitamin d and calcium levels because phosphate is necessary for bone development in children and even for ongoing bone metabol￭ ism in adults
cy￭ stin￭ ur￭ ia
cy￭ stin￭ osis
cy￭ stin￭ osis is a ly￭ so￭ som￭ al storage disease characterized by the abnormal accumulation of the amino acid cy￭ st￭ ine it is a genetic disorder that typically follows an auto￭ som￭ al rec￭ essive inheritance pattern cy￭ stin￭ osis is the most common cause of fan￭ coni syndrome in the pedi￭ atric age group fan￭ coni syndrome occurs when the function of cells in ren￭ al tu￭ bul￭ es are impaired leading to abnormal amounts of carbo￭ hydr￭ ates and amino acids in the urine excessive ur￭ ination and low blood levels of potassium and phosp￭ hates
cy￭ stin￭ osis is a ly￭ so￭ som￭ al storage disease characterized by the abnormal accumulation of the amino acid cy￭ st￭ ine it is a genetic disorder that typically follows an auto￭ som￭ al rec￭ essive inheritance pattern cy￭ stin￭ osis is the most common cause of fan￭ coni syndrome in the pedi￭ atric age group fan￭ coni syndrome occurs when the function of cells in ren￭ al tu￭ bul￭ es are impaired leading to abnormal amounts of carbo￭ hydr￭ ates and amino acids in the urine excessive ur￭ ination and low blood levels of potassium and phosp￭ hates cy￭ stin￭ osis was the first documented genetic disease belonging to the group of ly￭ so￭ som￭ al transport defect disorders it is a rare auto￭ som￭ al rec￭ essive disorder resulting from accumulation of free cy￭ st￭ ine in ly￭ so￭ som￭ es eventually leading to in￭ trac￭ ell￭ ular crystal formation throughout the body cy￭ stin￭ osis is caused by mutations in the ct￭ ns gene that codes for cy￭ stin￭ os￭ in the ly￭ so￭ som￭ al memb￭ rane specific transporter for cy￭ st￭ ine in￭ trac￭ ell￭ ular metabol￭ ism of cy￭ st￭ ine as it happens with all amino acids requires its transport across the cell memb￭ rane after degradation of endo￭ cy￭ to￭ sed protein to cy￭ st￭ ine within ly￭ so￭ som￭ es it is normally transported to the cy￭ to￭ sol but if there is a defect in the carrier protein cy￭ st￭ ine is accumulated in ly￭ so￭ som￭ es as cy￭ st￭ ine is highly in￭ soluble when its concentration in tissue ly￭ so￭ som￭ es increase its solu￭ bility is immediately exceeded and cryst￭ alline precipit￭ ates are formed in almost all organs and tissues however the progression of the disease is not related to the presence of cryst￭ als in target tissues although tissue damage might depend on cy￭ st￭ ine accumulation the mechanisms of tissue damage are not fully understood increased in￭ trac￭ ell￭ ular cy￭ st￭ ine profoundly distur￭ bs cellular oxid￭ ative metabol￭ ism and glu￭ ta￭ th￭ ione status leading to altered mit￭ och￭ on￭ dri￭ al energy metabol￭ ism autop￭ ha￭ gy and apop￭ to￭ sis cy￭ stin￭ osis is usually treated with cy￭ ste￭ amine which is prescribed to decrease intr￭ aly￭ so￭ som￭ al cy￭ st￭ ine accumulation however the recent discovery of new pathogenic mechanisms and the development of an animal model of the disease may open possibilities for the development of new treatment modalities to improve long term prog￭ no￭ sis
har￭ tn￭ up disease
har￭ tn￭ up disease also known as p￭ ell￭ ag￭ ra like der￭ mat￭ osis and har￭ tn￭ up disorder is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder affecting the absorption of non￭ polar amino acids particularly try￭ pt￭ oph￭ an that can be in turn converted into sero￭ ton￭ in mel￭ at￭ on￭ in and ni￭ ac￭ in ni￭ ac￭ in is a precursor to nico￭ tin￭ amide a necessary component of n￭ ad the caus￭ ative gene sl￭ c 6 a 19 is located on chro￭ mo￭ some 5
hom￭ oc￭ y￭ stin￭ ur￭ ia
classical hom￭ oc￭ y￭ stin￭ ur￭ ia also known as cy￭ sta￭ th￭ ion￭ ine beta syn￭ th￭ ase deficiency or c￭ bs deficiency is an inherited disorder of the metabol￭ ism of the amino acid meth￭ ion￭ ine often involving cy￭ sta￭ th￭ ion￭ ine beta syn￭ th￭ ase it is an inherited auto￭ som￭ al rec￭ essive trait which means a child needs to inherit a copy of the defective gene from both parents to be affected
hyper￭ ammon￭ emia
hyper￭ ammon￭ emia or hyper￭ ammon￭ aemia is a metabol￭ ic disturbance characterised by an excess of ammonia in the blood it is a dangerous condition that may lead to encephalopathy and death it may be primary or secondary
lac￭ tose intolerance
lac￭ tose intolerance is the inability of adults and children to dig￭ est lac￭ tose a sugar found in milk and to a lesser extent dairy products causing side effects it is due to a lact￭ ase deficiency or hy￭ pol￭ ac￭ ta￭ sia in extremely rare cases mainly limited to finland individuals have con￭ genital al￭ ac￭ ta￭ sia a total absence of lact￭ ase caused by a genetic defect which prevents them from being able to dig￭ est lac￭ tose from infancy including breast milk
gly￭ co￭ gen storage disease
gly￭ co￭ gen storage disease type ii
gly￭ co￭ gen storage disease type ii also called pom￭ pe disease ˈ￭ p￭ ɒ￭ mp￭ ə or acid mal￭ t￭ ase deficiency is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder which damages muscle and nerve cells throughout the body it is caused by an accumulation of gly￭ co￭ gen in the ly￭ so￭ some due to deficiency of the ly￭ so￭ som￭ al acid alpha glu￭ co￭ sid￭ ase enzyme it is the only gly￭ co￭ gen storage disease with a defect in ly￭ so￭ som￭ al metabol￭ ism and the first gly￭ co￭ gen storage disease to be identified in 19￭ 32 by the dutch patho￭ logist j c pom￭ pe
gly￭ co￭ gen storage disease type v
gly￭ co￭ gen storage disease type v gs￭ d v is a metabol￭ ic disorder more specifically a gly￭ co￭ gen storage disease caused by a deficiency of myop￭ hosp￭ hor￭ yl￭ ase its incidence is reported as 1 in 100 000 approximately the same as gly￭ co￭ gen storage disease type i gs￭ d type v is also known as m￭ car￭ dle disease or muscle phosphor￭ yl￭ ase myop￭ hosp￭ hor￭ yl￭ ase deficiency the disease was first reported in 1951 by dr brian m￭ car￭ dle of guy s hospital london
gly￭ co￭ gen storage disease type iii
gly￭ co￭ gen storage disease type iii is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder and in￭ born error of metabol￭ ism characterized by a deficiency in gly￭ co￭ gen deb￭ ran￭ ching enzymes it is also known as cor￭ i s disease in honor of the 1947 nobel laureates carl cor￭ i and ger￭ ty cor￭ i other names include for￭ bes disease in honor of clin￭ ician gil￭ bert bur￭ nett for￭ bes 1915 2003 an american physician who further described the features of the disorder or limit d￭ extr￭ in￭ osis due to the limit d￭ extr￭ in like structures in cy￭ to￭ sol limit d￭ extr￭ in is the remaining poly￭ mer produced after hydro￭ lysis of gly￭ co￭ gen without gly￭ co￭ gen deb￭ ran￭ ching enzymes to further convert these bran￭ ched gly￭ co￭ gen pol￭ ym￭ ers to glucose limit d￭ extr￭ in￭ osis abnormally accumul￭ ates in the cy￭ top￭ las￭ m
gly￭ co￭ gen storage disease type iii is an auto￭ som￭ al rec￭ essive metabol￭ ic disorder and in￭ born error of metabol￭ ism characterized by a deficiency in gly￭ co￭ gen deb￭ ran￭ ching enzymes it is also known as cor￭ i s disease in honor of the 1947 nobel laureates carl cor￭ i and ger￭ ty cor￭ i other names include for￭ bes disease in honor of clin￭ ician gil￭ bert bur￭ nett for￭ bes 1915 2003 an american physician who further described the features of the disorder or limit d￭ extr￭ in￭ osis due to the limit d￭ extr￭ in like structures in cy￭ to￭ sol limit d￭ extr￭ in is the remaining poly￭ mer produced after hydro￭ lysis of gly￭ co￭ gen without gly￭ co￭ gen deb￭ ran￭ ching enzymes to further convert these bran￭ ched gly￭ co￭ gen pol￭ ym￭ ers to glucose limit d￭ extr￭ in￭ osis abnormally accumul￭ ates in the cy￭ top￭ las￭ m gly￭ co￭ gen is a mol￭ ecu￭ le the body uses to store carbo￭ hydrate energy symptoms of gs￭ d iii are caused by a deficiency of the enzyme am￭ yl￭ o 1 6 glu￭ co￭ sid￭ ase or deb￭ ran￭ cher enzyme this causes excess amounts of an abnormal gly￭ co￭ gen to be deposited in the liver muscles and in some cases the heart
gly￭ co￭ gen storage disease type iv
gly￭ co￭ gen storage disease type vi
gly￭ co￭ gen storage disease type vi gs￭ d vi is a type of gly￭ co￭ gen storage disease caused by a deficiency in liver gly￭ co￭ gen phosphor￭ yl￭ ase or other components of the associated phosphor￭ yl￭ ase cas￭ c￭ ade system it is also known as hers disease after henri g hers who characterized it in 1959 the scope of gs￭ d vi now also includes gly￭ co￭ gen storage disease type viii ix caused by phosphor￭ yl￭ ase b kin￭ ase deficiency and x deficiency protein kin￭ ase a
gly￭ co￭ gen storage disease type vi gs￭ d vi is a type of gly￭ co￭ gen storage disease caused by a deficiency in liver gly￭ co￭ gen phosphor￭ yl￭ ase or other components of the associated phosphor￭ yl￭ ase cas￭ c￭ ade system it is also known as hers disease after henri g hers who characterized it in 1959 the scope of gs￭ d vi now also includes gly￭ co￭ gen storage disease type viii ix caused by phosphor￭ yl￭ ase b kin￭ ase deficiency and x deficiency protein kin￭ ase a the incidence of gs￭ d vi is approximately 1 case per 65 000 – 85 000 births representing approximately 30 all cases of gly￭ co￭ gen storage disease approximately 75 of these gs￭ d vi cases result from the x linked rec￭ essive forms of phosphor￭ yl￭ ase kin￭ ase deficiency all other forms are auto￭ som￭ al rec￭ essive
phosp￭ ho￭ fruc￭ to￭ kin￭ ase deficiency
phosp￭ ho￭ fruc￭ to￭ kin￭ ase deficiency also known as gly￭ co￭ gen storage disease type vii or tar￭ ui s disease is a muscular metabol￭ ic disorder with an auto￭ som￭ al rec￭ essive inheritance pattern it may affect humans as well as other mammals especially dogs in humans it is the least common type of gly￭ co￭ gen storage disease it was named after the japanese physician se￭ i￭ ichiro tar￭ ui 19￭ 27 – who first observed the condition in 1965
gly￭ co￭ gen storage disease type i
gly￭ co￭ gen storage disease type i gs￭ d i or von gi￭ er￭ ke s disease is the most common of the gly￭ co￭ gen storage diseases this genetic disease results from deficiency of the enzyme glucose 6 phosp￭ hat￭ ase and has an incidence in the american population of approximately 1 in 50 000 to 100 000 births the disease was named after german doctor edgar von gi￭ er￭ ke
gly￭ co￭ gen storage disease type i gs￭ d i or von gi￭ er￭ ke s disease is the most common of the gly￭ co￭ gen storage diseases this genetic disease results from deficiency of the enzyme glucose 6 phosp￭ hat￭ ase and has an incidence in the american population of approximately 1 in 50 000 to 100 000 births the deficiency imp￭ airs the ability of the liver to produce free glucose from gly￭ co￭ gen and from glu￭ con￭ e￭ o￭ genesis since these are the two principal metabol￭ ic mechanisms by which the liver supplies glucose to the rest of the body during periods of fast￭ ing it causes severe hypo￭ gly￭ cem￭ ia and results in increased gly￭ co￭ gen storage in liver and kidneys both organs function normally in childhood but are susceptible to a variety of problems in adult years other metabol￭ ic der￭ ang￭ ements include lac￭ tic aci￭ do￭ sis and hyper￭ li￭ pi￭ dem￭ ia frequent or continuous fe￭ edings of corn￭ starch or other carbo￭ hydr￭ ates are the principal treatment other therapeutic measures may be needed for associated problems the disease was named after german doctor edgar von gi￭ er￭ ke
hereditary fructose intolerance
hereditary fructose intolerance h￭ fi is an in￭ born error of fructose metabol￭ ism caused by a deficiency of the enzyme al￭ dol￭ ase b individuals affected with h￭ fi are as￭ ymp￭ tomatic until they ing￭ est fructose sucrose or sor￭ bit￭ ol if fructose is ing￭ ested the enz￭ ym￭ atic block at al￭ dol￭ ase b causes an accumulation of fructose 1 phosphate this accumulation has downstream effects on glu￭ con￭ e￭ o￭ genesis and regeneration of aden￭ os￭ ine tri￭ phosphate at￭ p symptoms of h￭ fi include v￭ om￭ iting hypo￭ gly￭ cem￭ ia ja￭ und￭ ice hemorrha￭ ge he￭ pat￭ om￭ eg￭ al￭ y hyper￭ ur￭ ic￭ emia and potentially kidney failure while h￭ fi is not clin￭ ically a devastating condition there are reported deaths in infants and children as a result of the metabol￭ ic consequences of h￭ fi death in h￭ fi is always associated with problems in diagnosis
hereditary fructose intolerance h￭ fi is an in￭ born error of fructose metabol￭ ism caused by a deficiency of the enzyme al￭ dol￭ ase b individuals affected with h￭ fi are as￭ ymp￭ tomatic until they ing￭ est fructose sucrose or sor￭ bit￭ ol if fructose is ing￭ ested the enz￭ ym￭ atic block at al￭ dol￭ ase b causes an accumulation of fructose 1 phosphate this accumulation has downstream effects on glu￭ con￭ e￭ o￭ genesis and regeneration of aden￭ os￭ ine tri￭ phosphate at￭ p symptoms of h￭ fi include v￭ om￭ iting hypo￭ gly￭ cem￭ ia ja￭ und￭ ice hemorrha￭ ge he￭ pat￭ om￭ eg￭ al￭ y hyper￭ ur￭ ic￭ emia and potentially kidney failure while h￭ fi is not clin￭ ically a devastating condition there are reported deaths in infants and children as a result of the metabol￭ ic consequences of h￭ fi death in h￭ fi is always associated with problems in diagnosis h￭ fi is an auto￭ som￭ al rec￭ essive condition caused by mutations in the al￭ do￭ b gene located at 9 q 22 3 h￭ fi is typically suspected based on dietary history especially in infants who become symptomatic after breast feeding this suspicion is typically confirmed by molecular analysis treatment of h￭ fi involves strict avoidance of fructose in the diet older patients with h￭ fi typically self select a diet low in fructose even before being diagnosed
galac￭ to￭ sem￭ ia
galac￭ to￭ sem￭ ia british galac￭ to￭ sa￭ emia is a rare genetic metabol￭ ic disorder that affects an individual s ability to met￭ abo￭ li￭ ze the sugar galac￭ tose properly galac￭ to￭ sem￭ ia follows an auto￭ som￭ al rec￭ essive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galac￭ tose degradation friedrich g￭ op￭ pert 1870 – 19￭ 27 a german physician first described the disease in 1917 with its cause as a defect in galac￭ tose metabol￭ ism being identified by a group led by herman kal￭ ck￭ ar in 1956
galac￭ to￭ sem￭ ia british galac￭ to￭ sa￭ emia is a rare genetic metabol￭ ic disorder that affects an individual s ability to met￭ abo￭ li￭ ze the sugar galac￭ tose properly galac￭ to￭ sem￭ ia follows an auto￭ som￭ al rec￭ essive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galac￭ tose degradation friedrich g￭ op￭ pert 1870 – 19￭ 27 a german physician first described the disease in 1917 with its cause as a defect in galac￭ tose metabol￭ ism being identified by a group led by herman kal￭ ck￭ ar in 1956 its incidence is about 1 per 60 000 births for people of european ance￭ stry in other populations the incidence rate differs galac￭ to￭ sa￭ emia is about one hundred times more common 1 480 births within the irish traveller population
fructose mal￭ absorption
fructose mal￭ absorption formerly named dietary fructose intolerance d￭ fi is a dig￭ estive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intest￭ ine s enter￭ oc￭ y￭ tes this results in an increased concentration of fructose in the entire intest￭ ine fructose mal￭ absorption is not to be confused with hereditary fructose intolerance a potentially fatal condition in which the liver enzymes that break up fructose are deficient
fructose mal￭ absorption formerly named dietary fructose intolerance d￭ fi is a dig￭ estive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intest￭ ine s enter￭ oc￭ y￭ tes this results in an increased concentration of fructose in the entire intest￭ ine occurrence in patients identified to be suffering symptoms of irrit￭ able bo￭ wel syndrome is not higher than occurrence in the normal population however due to the similarity in symptoms patients with fructose mal￭ absorption often fit the profile of those with irrit￭ able bo￭ wel syndrome in some cases fructose mal￭ absorption may be caused by several diseases which cause an intest￭ inal damage such as ce￭ li￭ ac disease fructose mal￭ absorption is not to be confused with hereditary fructose intolerance a potentially fatal condition in which the liver enzymes that break up fructose are deficient
sucrose intolerance
sucrose intolerance also called con￭ genital su￭ cr￭ ase isom￭ alt￭ ase deficiency c￭ sid or su￭ cr￭ ase isom￭ alt￭ ase deficiency is the condition in which su￭ cr￭ ase an enzyme needed for proper metabol￭ ism of sucrose sugar is not produced in the small intest￭ ine it is common among the in￭ up￭ i￭ at people
ren￭ al gly￭ co￭ sur￭ ia
ly￭ so￭ som￭ al storage disease
ly￭ so￭ som￭ al storage diseases ls￭ ds ˌ￭ la￭ ɪ￭ s￭ ə￭ ˈ￭ so￭ ʊ￭ m￭ ə￭ l are a group of approximately 50 rare inherited metabol￭ ic disorders that result from defects in ly￭ so￭ som￭ al function ly￭ so￭ som￭ es are sac￭ s of enzymes within cells that dig￭ est large molecules and pass the fragments on to other parts of the cell for recycling this process requires several critical enzymes if one of these enzymes is defective because of a mutation the large molecules accumulate within the cell eventually killing it
t￭ ay – sachs disease
t￭ ay – sachs disease also known as gm 2 gang￭ li￭ o￭ sid￭ osis or hex￭ o￭ sam￭ in￭ id￭ ase a deficiency is a rare auto￭ som￭ al rec￭ essive genetic disorder in its most common variant known as inf￭ anti￭ le t￭ ay – sachs disease it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around 7 months of age and usually results in death by the age of four the disease occurs when harmful quantities of cell memb￭ rane components known as gang￭ li￭ o￭ sides accumulate in the brain s nerve cells eventually leading to the premature death of the cells a gang￭ li￭ o￭ side is a form of sp￭ hin￭ go￭ lip￭ id which makes t￭ ay – sachs disease a member of the sp￭ hin￭ go￭ li￭ pi￭ doses there is no known cure or treatment
t￭ ay – sachs disease also known as gm 2 gang￭ li￭ o￭ sid￭ osis or hex￭ o￭ sam￭ in￭ id￭ ase a deficiency is a rare auto￭ som￭ al rec￭ essive genetic disorder in its most common variant known as inf￭ anti￭ le t￭ ay – sachs disease it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around 7 months of age and usually results in death by the age of four the disease occurs when harmful quantities of cell memb￭ rane components known as gang￭ li￭ o￭ sides accumulate in the brain s nerve cells eventually leading to the premature death of the cells a gang￭ li￭ o￭ side is a form of sp￭ hin￭ go￭ lip￭ id which makes t￭ ay – sachs disease a member of the sp￭ hin￭ go￭ li￭ pi￭ doses there is no known cure or treatment the disease is named after the british oph￭ thal￭ mo￭ logist w￭ aren t￭ ay who in 18￭ 81 first described a symptomatic red spot on the re￭ tina of the eye and after the american neuro￭ logist bernard sachs of mount sinai hospital who described in 18￭ 87 the cellular changes of t￭ ay – sachs disease and noted an increased disease prevalence in ash￭ ken￭ az￭ i jews research in the late 20 th century demonstrated that t￭ ay – sachs disease is caused by a genetic mutation in the hex￭ a gene on chro￭ mo￭ some 15 a large number of hex￭ a mutations have been discovered and new ones are still being reported these mutations reach significant frequencies in specific populations french canadi￭ ans of sou￭ the￭ astern qu￭ eb￭ ec have a carrier frequency similar to that seen in ash￭ ken￭ az￭ i jews but carry a different mutation ca￭ jun￭ s of southern louisiana carry the same mutation that is seen most commonly in ash￭ ken￭ az￭ i jews hex￭ a mutations are rare and are most seen in genetically isolated populations t￭ ay – sachs can occur from the inheritance of either two similar or two unrelated caus￭ ative mutations in the hex￭ a gene as an auto￭ som￭ al rec￭ essive disorder two t￭ ay – sachs all￭ el￭ es are required for an individual to exhibit symptoms of the disease carriers of a single t￭ ay – sachs alle￭ le do not exhibit symptoms of the disease but appear to be protected to some extent against tuberculosis this accounts for the persistence of the alle￭ le in certain populations in that it confers a selective advantage — in other words being a hetero￭ zy￭ go￭ te is advantageous
sand￭ hoff disease
sand￭ hoff disease also known as sand￭ hoff j￭ at￭ z￭ ke￭ witz disease variant 0 of gm 2 gang￭ li￭ o￭ sid￭ osis or hex￭ o￭ sam￭ in￭ id￭ ase a and b deficiency is a ly￭ so￭ som￭ al genetic lip￭ id storage disorder caused by the inherited deficiency to create functional beta hex￭ o￭ sam￭ in￭ id￭ ases a and b these cat￭ abol￭ ic enzymes are needed to de￭ grade the neuro￭ nal memb￭ rane components gang￭ li￭ o￭ side gm 2 its derivative ga 2 the gly￭ co￭ lip￭ id glo￭ bo￭ side in vis￭ cer￭ al tissues and some oligo￭ sac￭ ch￭ ari￭ des accumulation of these metabol￭ ites leads to a progressive destruction of the central nervous system and eventually to death the rare auto￭ som￭ al rec￭ essive neuro￭ degenerative disorder is clin￭ ically almost in￭ distingu￭ ishable from t￭ ay sachs disease another genetic disorder that disrup￭ ts beta hex￭ o￭ sam￭ in￭ id￭ ases a and s there are three sub￭ sets of sand￭ hof
gang￭ li￭ o￭ sid￭ osis
gang￭ li￭ o￭ sid￭ osis is a sub category of sp￭ hin￭ go￭ li￭ pi￭ do￭ sis that contains two different types of lip￭ id storage disorders caused by the accumulation of li￭ pi￭ ds known as gang￭ li￭ o￭ sides there are two distinct genetic causes of the disease both are auto￭ som￭ al rec￭ essive and affect males and females equally
can￭ av￭ an disease
can￭ av￭ an disease also called can￭ av￭ an van bo￭ ga￭ ert ber￭ tr￭ and disease is an auto￭ som￭ al rec￭ essive degenerative disorder that causes progressive damage to nerve cells in the brain and is one of the most common degenerative cere￭ br￭ al diseases of infancy it is caused by a deficiency of the enzyme am￭ ino￭ ac￭ yl￭ ase 2 and is one of a group of genetic diseases referred to as a leuko￭ dy￭ stro￭ ph￭ ies it is characterized by de￭ generation of my￭ elin in the phosp￭ holi￭ pid layer insulating the ax￭ on of a ne￭ uron and is associated with a gene located on human chro￭ mo￭ some 17
pe￭ li￭ za￭ eus – mer￭ z￭ bac￭ her disease
pe￭ li￭ za￭ eus – mer￭ z￭ bac￭ her disease p￭ md is a rare central nervous system disorder in which coordination motor abilities and intellectual function are delayed to variable ext￭ ents
alexander disease
kr￭ ab￭ be disease
leuko￭ dy￭ stro￭ phy
leuko￭ dy￭ stro￭ phy is one of a group of disorders characterized by de￭ generation of the white matter in the brain the word leuko￭ dy￭ stro￭ phy comes from the greek roots leuk￭ o white d￭ ys lack of and tro￭ ph growth the leuko￭ dy￭ stro￭ ph￭ ies are caused by imperfect growth or development of the my￭ elin she￭ ath the fatty covering that acts as an insul￭ ator around nerve fi￭ bers
gau￭ cher s disease
gau￭ cher s disease or gau￭ cher disease ɡ￭ o￭ ʊ￭ ˈ￭ ʃ￭ e￭ ɪ g￭ d is a genetic disorder in which glu￭ co￭ cere￭ bro￭ side a sp￭ hin￭ go￭ lip￭ id also known as glu￭ co￭ syl￭ ceram￭ ide accumul￭ ates in cells and certain organs the disorder is characterized by bru￭ ising fatigue an￭ emia low blood plat￭ elet count and enlargement of the liver and sp￭ leen and is caused by a hereditary deficiency of the enzyme glu￭ co￭ cere￭ bro￭ sid￭ ase also known as glu￭ co￭ syl￭ cer￭ amid￭ ase which acts on glu￭ co￭ cere￭ bro￭ side when the enzyme is defective glu￭ co￭ cere￭ bro￭ side accumul￭ ates particularly in white blood cells and especially in macro￭ p￭ ha￭ ges mon￭ on￭ uc￭ lear leuk￭ oc￭ y￭ tes glu￭ co￭ cere￭ bro￭ side can collect in the sp￭ leen liver kidneys lungs brain and bone marrow
gau￭ cher s disease or gau￭ cher disease ɡ￭ o￭ ʊ￭ ˈ￭ ʃ￭ e￭ ɪ g￭ d is a genetic disorder in which glu￭ co￭ cere￭ bro￭ side a sp￭ hin￭ go￭ lip￭ id also known as glu￭ co￭ syl￭ ceram￭ ide accumul￭ ates in cells and certain organs the disorder is characterized by bru￭ ising fatigue an￭ emia low blood plat￭ elet count and enlargement of the liver and sp￭ leen and is caused by a hereditary deficiency of the enzyme glu￭ co￭ cere￭ bro￭ sid￭ ase also known as glu￭ co￭ syl￭ cer￭ amid￭ ase which acts on glu￭ co￭ cere￭ bro￭ side when the enzyme is defective glu￭ co￭ cere￭ bro￭ side accumul￭ ates particularly in white blood cells and especially in macro￭ p￭ ha￭ ges mon￭ on￭ uc￭ lear leuk￭ oc￭ y￭ tes glu￭ co￭ cere￭ bro￭ side can collect in the sp￭ leen liver kidneys lungs brain and bone marrow manifestations may include enlarged sp￭ leen and liver liver mal￭ function sk￭ el￭ etal disorders or bone le￭ sions that may be painful severe neuro￭ logical complications sw￭ elling of lymp￭ h no￭ des and occasionally adjacent joints dist￭ ended ab￭ dom￭ en a bro￭ wn￭ ish tin￭ t to the skin an￭ emia low blood plat￭ elet count and yellow fatty deposits on the white of the eye s￭ cl￭ era persons seriously affected may also be more susceptible to infection some forms of gau￭ cher s disease may be treated with enzyme replacement therapy the disease is caused by a rec￭ essive mutation in the g￭ ba gene located on chro￭ mo￭ some 1 and affects both males and females about one in 100 people in the united states are carriers of the most common type of gau￭ cher disease the carrier rate among ash￭ ken￭ az￭ i jews is 8 9 while the birth incidence is one in 450 gau￭ cher s disease is the most common of the ly￭ so￭ som￭ al storage diseases it is a form of sp￭ hin￭ go￭ li￭ pi￭ do￭ sis a sub￭ group of ly￭ so￭ som￭ al storage diseases as it involves dysfunctional metabol￭ ism of sp￭ hin￭ go￭ li￭ pi￭ ds the disease is named after the french physician philippe gau￭ cher who originally described it in 1882
ni￭ emann – pick disease
ni￭ emann – pick disease ni￭ ː￭ m￭ ə￭ n￭ ˈ￭ p￭ ɪ￭ k nee m￭ ə￭ n pi￭ k is a group of inherited severe metabol￭ ic disorders in which sp￭ h￭ ing￭ om￭ yel￭ in accumul￭ ates in ly￭ so￭ som￭ es in cells the ly￭ so￭ som￭ es normally transport material through and out of the cell the prog￭ no￭ sis is individual but the severe form is fatal in to￭ dd￭ ler￭ hood and in some cases patients with the mil￭ der forms may have normal lif￭ esp￭ ans
far￭ ber disease
far￭ ber disease also known as far￭ ber s li￭ po￭ gran￭ ul￭ om￭ at￭ osis cer￭ amid￭ ase deficiency fi￭ bro￭ cy￭ tic dys￭ mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis and li￭ po￭ gran￭ ul￭ om￭ at￭ osis is an extremely rare 80 cases reported worldwide to this day auto￭ som￭ al rec￭ essive ly￭ so￭ som￭ al storage disease marked by a deficiency in the enzyme cer￭ amid￭ ase that causes an accumulation of fatty material sp￭ hin￭ go￭ li￭ pi￭ ds leading to ab￭ norm￭ alities in the joints liver throat tissues and central nervous system normally the enzyme cer￭ amid￭ ase breaks down fatty material in the body ’ s cells in far￭ ber disease the gene responsible for making this enzyme is mut￭ ated hence the fatty material is never broken down and instead accumul￭ ates in various parts of the body leading to the signs and symptoms of this disorder
fab￭ ry disease
met￭ ach￭ rom￭ atic leuko￭ dy￭ stro￭ phy
met￭ ach￭ rom￭ atic leuko￭ dy￭ stro￭ phy m￭ ld also called ar￭ yl￭ sul￭ fat￭ ase a deficiency is a ly￭ so￭ som￭ al storage disease which is commonly listed in the family of leuko￭ dy￭ stro￭ ph￭ ies as well as among the sp￭ hin￭ go￭ li￭ pi￭ doses as it affects the metabol￭ ism of sp￭ hin￭ go￭ li￭ pi￭ ds leuko￭ dy￭ stro￭ ph￭ ies affect the growth and or development of my￭ elin the fatty covering which acts as an insul￭ ator around nerve fi￭ bers throughout the central and peripheral nervous systems m￭ ld involves cere￭ bro￭ side sul￭ fate accumulation met￭ ach￭ rom￭ atic leuko￭ dy￭ stro￭ phy like most enzyme deficiencies has an auto￭ som￭ al rec￭ essive inheritance pattern
sp￭ hin￭ go￭ li￭ pi￭ doses
sp￭ hin￭ go￭ li￭ pi￭ doses singular sp￭ hin￭ go￭ li￭ pi￭ do￭ sis are a class of lip￭ id storage disorders relating to sp￭ hin￭ go￭ lip￭ id metabol￭ ism the main members of this group are ni￭ emann – pick disease fab￭ ry disease kr￭ ab￭ be disease gau￭ cher disease t￭ ay – sachs disease and met￭ ach￭ rom￭ atic leuko￭ dy￭ stro￭ phy they are generally inherited in an auto￭ som￭ al rec￭ essive fashion but notably fab￭ ry disease is x linked rec￭ essive taken together sp￭ hin￭ go￭ li￭ pi￭ doses have an incidence of approximately 1 in 10 000 but substantially more in certain populations such as ash￭ ken￭ az￭ i jews enzyme replacement therapy is available to treat mainly fab￭ ry disease and gau￭ cher disease and people with these types of sp￭ hin￭ go￭ li￭ pi￭ doses may live well into adul￭ thood the other types are generally fatal by age 1 to 5 years for inf￭ anti￭ le forms but progr￭ e
sp￭ hin￭ go￭ li￭ pi￭ doses singular sp￭ hin￭ go￭ li￭ pi￭ do￭ sis are a class of lip￭ id storage disorders relating to sp￭ hin￭ go￭ lip￭ id metabol￭ ism the main members of this group are ni￭ emann – pick disease fab￭ ry disease kr￭ ab￭ be disease gau￭ cher disease t￭ ay – sachs disease and met￭ ach￭ rom￭ atic leuko￭ dy￭ stro￭ phy they are generally inherited in an auto￭ som￭ al rec￭ essive fashion but notably fab￭ ry disease is x linked rec￭ essive taken together sp￭ hin￭ go￭ li￭ pi￭ doses have an incidence of approximately 1 in 10 000 but substantially more in certain populations such as ash￭ ken￭ az￭ i jews enzyme replacement therapy is available to treat mainly fab￭ ry disease and gau￭ cher disease and people with these types of sp￭ hin￭ go￭ li￭ pi￭ doses may live well into adul￭ thood the other types are generally fatal by age 1 to 5 years for inf￭ anti￭ le forms but progression may be mild for juvenile or adult onset forms
neuro￭ nal cer￭ o￭ id li￭ po￭ fus￭ cin￭ osis
cere￭ bro￭ tend￭ ine￭ ous x￭ an￭ thom￭ at￭ osis
cere￭ bro￭ tend￭ ine￭ ous x￭ an￭ thom￭ at￭ osis or cere￭ bro￭ tend￭ inous x￭ an￭ thom￭ at￭ osis ct￭ x also called cere￭ br￭ al cho￭ le￭ ster￭ osis is an auto￭ som￭ al rec￭ essive form of x￭ an￭ thom￭ at￭ osis it falls within a group of genetic disorders called the leuko￭ dy￭ stro￭ ph￭ ies
ly￭ so￭ som￭ al acid lip￭ ase deficiency
ly￭ so￭ som￭ al acid lip￭ ase deficiency or l￭ al deficiency or l￭ al d happens when the body does not produce enough active ly￭ so￭ som￭ al acid lip￭ ase l￭ al enzyme this enzyme plays an important role in breaking down fatty material cho￭ le￭ ster￭ yl esters and tri￭ gly￭ cer￭ ides in the body infants children and adults that suffer from l￭ al deficiency experience a range of serious health problems the lack of the l￭ al enzyme can lead to a build up of fatty material in a number of body organs including the liver sp￭ leen gut in the wall of blood vessels and other important organs
mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis
mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ doses are a group of metabol￭ ic disorders caused by the absence or malfunctioning of ly￭ so￭ som￭ al enzymes needed to break down molecules called gly￭ co￭ sam￭ ino￭ gly￭ cans these long chains of sugar carbo￭ hydr￭ ates occur within the cells that help build bone car￭ til￭ age tend￭ ons cor￭ ne￭ as skin and connec￭ tive tissue gly￭ co￭ sam￭ ino￭ gly￭ cans formerly called mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ des are also found in the fluids that lubric￭ ate joints
mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ doses are a group of metabol￭ ic disorders caused by the absence or malfunctioning of ly￭ so￭ som￭ al enzymes needed to break down molecules called gly￭ co￭ sam￭ ino￭ gly￭ cans these long chains of sugar carbo￭ hydr￭ ates occur within the cells that help build bone car￭ til￭ age tend￭ ons cor￭ ne￭ as skin and connec￭ tive tissue gly￭ co￭ sam￭ ino￭ gly￭ cans formerly called mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ des are also found in the fluids that lubric￭ ate joints subjects with a mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules or they produce enzymes that do not work properly over time these gly￭ co￭ sam￭ ino￭ gly￭ cans collect in the cells blood and connec￭ tive tissues the result is permanent progressive cellular damage which affects appearance physical abilities organ and system functioning and in most cases mental development the mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ doses are part of the ly￭ so￭ som￭ al storage disease family a group of more than 40 genetic disorders that result when the ly￭ so￭ some organ￭ elle in animal cells mal￭ functions the ly￭ so￭ some can be thought of as the cell s recycling center because it processes unwanted material into other substances that the cell can utili￭ ze ly￭ so￭ som￭ es break down this unwanted matter via enzymes highly specialized proteins essential for survival ly￭ so￭ som￭ al disorders like mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis are triggered when a particular enzyme exists in too small an amount or is missing altogether
hunter syndrome
hunter syndrome or mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis ii mps ii is a ly￭ so￭ som￭ al storage disease caused by a deficient or absent enzyme i￭ du￭ ron￭ ate 2 sul￭ fat￭ ase i 2 s the accumulated sub￭ str￭ ates in hunter syndrome are he￭ par￭ an sul￭ fate and der￭ mat￭ an sul￭ fate the syndrome has x linked rec￭ essive inheritance
san￭ fili￭ pp￭ o syndrome
mar￭ o￭ te￭ aux – lamy syndrome
mar￭ o￭ te￭ aux – lamy syndrome also known as mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis type vi mps vi or poly￭ dy￭ stro￭ ph￭ ic dwar￭ f￭ ism is a form of mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis caused by a deficiency in ar￭ yl￭ sul￭ fat￭ ase b ar￭ sb it is named after pierre mar￭ o￭ te￭ aux 19￭ 26 and his mentor maurice em￭ il joseph lamy 18￭ 95 1975 both french physicians
mor￭ qui￭ o syndrome
mor￭ qui￭ o syndrome referred to as mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ do￭ sis iv mps iv mor￭ qui￭ o bra￭ il￭ s￭ ford syndrome or mor￭ qui￭ o is an auto￭ som￭ al rec￭ essive mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ de storage disease see also ly￭ so￭ som￭ al storage disorder usually inherited it is a rare type of birth defect with serious consequences in the us the incidence rate for mor￭ qui￭ o is estimated at between 1 in 200 000 and 1 in 300 000 live births when the body cannot process certain types of mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ des they build up or are eliminated causing various symptoms these involve accumulation of ker￭ at￭ an sul￭ fate
gly￭ co￭ prote￭ in￭ osis
gly￭ co￭ prote￭ in￭ osis are ly￭ so￭ som￭ al storage diseases affecting gly￭ co￭ proteins resulting from defects in ly￭ so￭ som￭ al function the term is sometimes reserved for conditions involving degradation of gly￭ co￭ proteins
i cell disease
inclusion cell i cell disease also referred to as mu￭ co￭ li￭ pi￭ do￭ sis ii ml ii is part of the ly￭ so￭ som￭ al storage disease family and results from a defective phosp￭ ho￭ transfer￭ ase an enzyme of the gol￭ gi apparatus this enzyme transfers phosphate to man￭ nose residues on specific proteins and serves as a marker for them to be targeted to ly￭ so￭ som￭ es within the cell without this marker the proteins are instead ex￭ cre￭ ted outside the cell — the default path￭ way for proteins moving through the gol￭ gi apparatus ly￭ so￭ som￭ es cannot function without these proteins which function as cat￭ abol￭ ic enzymes for the normal breakdown of substances e g oligo￭ sac￭ ch￭ ari￭ des li￭ pi￭ ds and gly￭ co￭ sam￭ ino￭ gly￭ cans in various tissues throughout the body i e fi￭ bro￭ bl￭ asts as a result a buil￭ dup of these substances occurs within
mu￭ co￭ li￭ pi￭ do￭ sis
mu￭ co￭ li￭ pi￭ do￭ sis ml is a group of inherited metabol￭ ic disorders that affect the body s ability to carry out the normal turnover of various materials within cells when originally named the mu￭ co￭ li￭ pi￭ doses derived their name from the similarity in presentation to both mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ doses and sp￭ hin￭ go￭ li￭ pi￭ doses a bio￭ chemical understanding of these conditions has changed how they are classified although four conditions i ii iii and iv have been labeled as mu￭ co￭ li￭ pi￭ doses type i si￭ ali￭ do￭ sis is now classified as a gly￭ co￭ prote￭ in￭ osis and type iv mu￭ co￭ li￭ pi￭ do￭ sis type iv is now classified as a gang￭ li￭ o￭ sid￭ osis
sch￭ ind￭ ler disease
sch￭ ind￭ ler disease also known as kan￭ zak￭ i disease and alpha n ace￭ ty￭ l￭ galac￭ to￭ sam￭ in￭ id￭ ase deficiency is a rare disease found in humans this ly￭ so￭ som￭ al storage disorder is caused by a deficiency in the enzyme alpha n￭ aga alpha n ace￭ ty￭ l￭ galac￭ to￭ sam￭ in￭ id￭ ase attributable to mutations in the n￭ aga gene on chro￭ mo￭ some 22 which leads to excessive ly￭ so￭ som￭ al accumulation of gly￭ co￭ proteins a deficiency of the alpha n￭ aga enzyme leads to an accumulation of gly￭ co￭ sp￭ hin￭ go￭ li￭ pi￭ ds throughout the body this accumulation of sugars gives rise to the clinical features associated with this disorder sch￭ ind￭ ler disease is an auto￭ som￭ al rec￭ essive disorder meaning that one must inherit an abnormal alle￭ le from both parents in order to have the disease
fu￭ co￭ sid￭ osis
fu￭ co￭ sid￭ osis is a rare ly￭ so￭ som￭ al storage disorder in which the fuc￭ a 1 gene experiences mutations that severely reduce or stop the activity of the alpha l fu￭ co￭ sid￭ ase enzyme the result is a buil￭ dup of complex sugars in parts of the body which leads to death fu￭ co￭ sid￭ osis is one of nine identified gly￭ co￭ protein storage diseases the gene en￭ coding the alpha fu￭ co￭ sid￭ ase fuc￭ a 1 was found to be located to the short arm of chro￭ mo￭ some 1 p 36 p 34 by carr￭ it and co workers in 1982
alpha man￭ no￭ sid￭ osis
alpha man￭ no￭ sid￭ osis is a ly￭ so￭ som￭ al storage disorder caused by deficient activity of the enzyme alpha d man￭ no￭ sid￭ ase in humans it is known to be caused by an auto￭ som￭ al rec￭ essive genetic mutation in livestock it is caused by chronic poisoning with sw￭ ain￭ son￭ ine from lo￭ co￭ weed
galac￭ to￭ si￭ ali￭ do￭ sis
galac￭ to￭ si￭ ali￭ do￭ sis is a ly￭ so￭ som￭ al storage disease this condition is rare and most cases have been in the juvenile adult group of patients an inf￭ anti￭ le form has been described
con￭ genital disorder of gly￭ co￭ syl￭ ation
hyper￭ li￭ pi￭ dem￭ ia
hyper￭ li￭ pi￭ dem￭ ia is abnormally elevated levels of any or all li￭ pi￭ ds and or li￭ po￭ proteins in the blood it is the most common form of dys￭ li￭ pi￭ dem￭ ia which includes any abnormal lip￭ id levels li￭ pi￭ ds water in￭ soluble molecules are transported in a protein cap￭ su￭ le the size of that cap￭ su￭ le or li￭ po￭ protein determines its density the li￭ po￭ protein density and type of a￭ poli￭ po￭ proteins it contains determines the fate of the particle and its influence on metabol￭ ism
hyper￭ li￭ pi￭ dem￭ ia is abnormally elevated levels of any or all li￭ pi￭ ds and or li￭ po￭ proteins in the blood it is the most common form of dys￭ li￭ pi￭ dem￭ ia which includes any abnormal lip￭ id levels li￭ pi￭ ds water in￭ soluble molecules are transported in a protein cap￭ su￭ le the size of that cap￭ su￭ le or li￭ po￭ protein determines its density the li￭ po￭ protein density and type of a￭ poli￭ po￭ proteins it contains determines the fate of the particle and its influence on metabol￭ ism hyper￭ li￭ pi￭ dem￭ ias are divided into primary and secondary sub￭ types primary hyper￭ li￭ pi￭ dem￭ ia is usually due to genetic causes such as a mutation in a recep￭ tor protein while secondary hyper￭ li￭ pi￭ dem￭ ia arises due to other underlying causes such as diabetes lip￭ id and li￭ po￭ protein ab￭ norm￭ alities are common in the general population and are regarded as a modi￭ fiable risk factor for cardiovascular disease due to their influence on a￭ ther￭ os￭ clerosis in addition some forms may pre￭ dispose to acute pan￭ cre￭ ati￭ tis
dys￭ li￭ pi￭ dem￭ ia
dys￭ li￭ pi￭ dem￭ ia is an abnormal amount of li￭ pi￭ ds e g tri￭ gly￭ cer￭ ides cho￭ le￭ sterol and or fat phosp￭ holi￭ pi￭ ds in the blood in developed countries most dys￭ li￭ pi￭ dem￭ ias are hyper￭ li￭ pi￭ dem￭ ias that is an elev￭ ation of li￭ pi￭ ds in the blood this is often due to diet and lifestyle prolonged elev￭ ation of insulin levels can also lead to dys￭ li￭ pi￭ dem￭ ia likewise increased levels of o gl￭ cn￭ ac transfer￭ ase og￭ t may cause dys￭ li￭ pi￭ dem￭ ia
sit￭ o￭ ster￭ ol￭ emia
sit￭ o￭ ster￭ ol￭ emia also known as phytoster￭ ol￭ emia is a rare auto￭ som￭ al rec￭ essively inherited lip￭ id metabol￭ ic disorder it is characterized by hyper￭ absorption and decreased bi￭ li￭ ary ex￭ cre￭ tion of dietary ster￭ ols leading to hyper￭ cho￭ le￭ ster￭ ol￭ emia tend￭ on and tuber￭ ous x￭ an￭ thomas premature development of a￭ ther￭ os￭ clerosis and abnormal hem￭ ato￭ logic and liver function test results
hyper￭ cho￭ le￭ ster￭ ol￭ emia
hyper￭ cho￭ le￭ ster￭ ol￭ emia also called dys￭ li￭ pi￭ dem￭ ia is the presence of high levels of cho￭ le￭ sterol in the blood it is a form of high blood li￭ pi￭ ds and hyper￭ li￭ po￭ prote￭ in￭ emia elevated levels of li￭ po￭ proteins in the blood elevated levels of non h￭ dl cho￭ le￭ sterol and ld￭ l in the blood may be a consequence of diet obesity inherited genetic diseases such as ld￭ l recep￭ tor mutations in famili￭ al hyper￭ cho￭ le￭ ster￭ ol￭ emia or the presence of other diseases such as diabetes and an under￭ active thyro￭ id
hyper￭ cho￭ le￭ ster￭ ol￭ emia also called dys￭ li￭ pi￭ dem￭ ia is the presence of high levels of cho￭ le￭ sterol in the blood it is a form of high blood li￭ pi￭ ds and hyper￭ li￭ po￭ prote￭ in￭ emia elevated levels of li￭ po￭ proteins in the blood elevated levels of non h￭ dl cho￭ le￭ sterol and ld￭ l in the blood may be a consequence of diet obesity inherited genetic diseases such as ld￭ l recep￭ tor mutations in famili￭ al hyper￭ cho￭ le￭ ster￭ ol￭ emia or the presence of other diseases such as diabetes and an under￭ active thyro￭ id cho￭ le￭ sterol is one of three major classes of li￭ pi￭ ds which all animal cells use to construct their memb￭ ran￭ es and is thus manufactured by all animal cells plant cells do not manufacture cho￭ le￭ sterol it is also the precursor of the ster￭ o￭ id hormones and bile acids since cho￭ le￭ sterol is in￭ soluble in water it is transported in the blood plasma within protein particles li￭ po￭ proteins li￭ po￭ proteins are classified by their density very low density li￭ po￭ protein v￭ ld￭ l low density li￭ po￭ protein ld￭ l intermediate density li￭ po￭ protein id￭ l and high density li￭ po￭ protein h￭ dl all the li￭ po￭ proteins carry cho￭ le￭ sterol but elevated levels of the li￭ po￭ proteins other than h￭ dl termed non h￭ dl cho￭ le￭ sterol particularly ld￭ l cho￭ le￭ sterol are associated with an increased risk of a￭ ther￭ os￭ clerosis and coron￭ ary heart disease in contrast higher levels of h￭ dl cho￭ le￭ sterol are protective avoiding trans fats and replacing saturated fats in adult di￭ ets with poly￭ un￭ saturated fats are recommended dietary measures to reduce total blood cho￭ le￭ sterol and ld￭ l in adults in people with very high cho￭ le￭ sterol e g famili￭ al hyper￭ cho￭ le￭ ster￭ ol￭ emia diet is often not sufficient to achieve the desired lowering of ld￭ l and lip￭ id lowering medications are usually required if necessary other treatments such as ld￭ l ap￭ her￭ esis or even surgery for particularly severe sub￭ types of famili￭ al hyper￭ cho￭ le￭ ster￭ ol￭ emia are performed about 34 million adults in the united states have high blood cho￭ le￭ sterol
hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia
hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia den￭ o￭ tes high hyper blood levels emia of tri￭ gly￭ cer￭ ides the most abundant fatty mol￭ ecu￭ le in most organisms elevated levels of tri￭ gly￭ cer￭ ides are associated with a￭ ther￭ os￭ clerosis even in the absence of hyper￭ cho￭ le￭ ster￭ ol￭ emia high cho￭ le￭ sterol levels and pre￭ dispose to cardiovascular disease very high tri￭ gly￭ cer￭ ide levels also increase the risk of acute pan￭ cre￭ ati￭ tis hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia itself is usually symp￭ tom￭ less although high levels may be associated with skin le￭ sions known as x￭ an￭ thomas
hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia den￭ o￭ tes high hyper blood levels emia of tri￭ gly￭ cer￭ ides the most abundant fatty mol￭ ecu￭ le in most organisms elevated levels of tri￭ gly￭ cer￭ ides are associated with a￭ ther￭ os￭ clerosis even in the absence of hyper￭ cho￭ le￭ ster￭ ol￭ emia high cho￭ le￭ sterol levels and pre￭ dispose to cardiovascular disease very high tri￭ gly￭ cer￭ ide levels also increase the risk of acute pan￭ cre￭ ati￭ tis hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia itself is usually symp￭ tom￭ less although high levels may be associated with skin le￭ sions known as x￭ an￭ thomas the diagnosis is made on blood tests often performed as part of screening once diagnosed other blood tests are usually required to determine whether the raised tri￭ gly￭ cer￭ ide level is caused by other underlying disorders secondary hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia or whether no such underlying cause exists primary hyper￭ tri￭ gly￭ cer￭ id￭ aemia there is a hereditary pre￭ disposition to both primary and secondary hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia weight loss and dietary modification may improve hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia the decision to treat hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia with medication depends on the levels and on the presence of other risk factors for cardiovascular disease very high levels that would increase the risk of pan￭ cre￭ ati￭ tis is treated with a drug from the fi￭ br￭ ate class ni￭ ac￭ in and om￭ ega 3 fatty acids as well as drugs from the stati￭ n class may be used in conjunction with stat￭ ins being the main drug treatment for moderate hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia where reduction of cardiovascular risk is required
x￭ an￭ thom￭ a
a x￭ an￭ thom￭ a pl x￭ an￭ thomas or x￭ an￭ thom￭ ata condition x￭ an￭ thom￭ at￭ osis from greek x￭ anth￭ os ξ￭ αν￭ θ￭ ος yellow is a de￭ position of yel￭ low￭ ish cho￭ le￭ sterol rich material that can appear anywhere in the body in various disease states they are cu￭ taneous manifestations of li￭ pi￭ do￭ sis in which li￭ pi￭ ds accumulate in large foam cells within the skin they are associated with hyper￭ li￭ pi￭ dem￭ ias both primary and secondary types
ab￭ et￭ ali￭ po￭ prote￭ in￭ emia
tan￭ gi￭ er disease
urb￭ ach – wi￭ e￭ the disease
urb￭ ach – wi￭ e￭ the disease also known as li￭ po￭ id prote￭ in￭ osis and hy￭ al￭ in￭ osis cu￭ tis et mu￭ co￭ sa￭ e is a rare rec￭ essive genetic disorder with approximately 400 reported cases since its discovery it was first officially reported in 1929 by er￭ ich urb￭ ach and cam￭ illo wi￭ e￭ the although cases may be recognized dating back as early as 19￭ 08
hyper￭ ur￭ ic￭ emia
hyper￭ ur￭ ic￭ emia is an abnormally high level of ur￭ ic acid in the blood in the ph conditions of body fluid ur￭ ic acid exists largely as urate the ion form the amount of urate in the body depends on the balance between the amount of pur￭ ines eaten in food the amount of urate syn￭ thes￭ ised within the body e g through cell turnover and the amount of urate that is ex￭ cre￭ ted in urine or through the gastro￭ intest￭ inal tract in humans the upper end of the normal range is 360 µ￭ mol l 6 mg dl for women and 400 µ￭ mol l 6 8 mg dl for men
les￭ ch – ny￭ han syndrome
les￭ ch – ny￭ han syndrome l￭ ns also known as ny￭ han s syndrome and juvenile g￭ out is a rare inherited disorder caused by a deficiency of the enzyme hypo￭ x￭ anth￭ ine gu￭ an￭ ine phosp￭ h￭ ori￭ bo￭ syl￭ transfer￭ ase hg￭ pr￭ t produced by mutations in the h￭ pr￭ t gene located on the x chro￭ mo￭ some l￭ ns affects about one in 380 000 live births the disorder was first recognized and clin￭ ically characterized by medical student michael les￭ ch and his mentor pedi￭ at￭ ric￭ ian william ny￭ han who published their findings in 1964
x￭ an￭ thin￭ ur￭ ia
x￭ an￭ thin￭ ur￭ ia also known as x￭ anth￭ ine oxid￭ ase deficiency is a rare genetic disorder causing the accumulation of x￭ anth￭ ine it is caused by a deficiency of the enzyme x￭ anth￭ ine oxid￭ ase it was first formally characterized in 1954
gun￭ ther disease
gun￭ ther disease also known as con￭ genital er￭ y￭ thro￭ po￭ ie￭ tic por￭ phy￭ ria ce￭ p u￭ ro￭ por￭ phy￭ rin￭ o￭ gen iii syn￭ th￭ ase deficiency and u￭ ros deficiency is a con￭ genital form of er￭ y￭ thro￭ po￭ ie￭ tic por￭ phy￭ ria the word por￭ phy￭ ria originated from the greek word por￭ ph￭ ura por￭ ph￭ ura actually means “ purple pig￭ ment ” which in suggestion the color that the body fluid changes when a person has gun￭ ther ’ s disease it is a rare auto￭ som￭ al rec￭ essive metabol￭ ic disorder affecting hem￭ e caused by deficiency of the enzyme u￭ ro￭ por￭ phy￭ rin￭ o￭ gen co￭ synthe￭ t￭ ase it is extremely rare with a prevalence estimated at 1 in 1 000 000 or less there have been times that prior to birth of a fe￭ tus gun￭ ther s disease has been shown to lead to an￭ emia in mil￭ der cases patients have not presented any symptoms until they have reached adul￭ thood in gu
gun￭ ther disease also known as con￭ genital er￭ y￭ thro￭ po￭ ie￭ tic por￭ phy￭ ria ce￭ p u￭ ro￭ por￭ phy￭ rin￭ o￭ gen iii syn￭ th￭ ase deficiency and u￭ ros deficiency is a con￭ genital form of er￭ y￭ thro￭ po￭ ie￭ tic por￭ phy￭ ria the word por￭ phy￭ ria originated from the greek word por￭ ph￭ ura por￭ ph￭ ura actually means “ purple pig￭ ment ” which in suggestion the color that the body fluid changes when a person has gun￭ ther ’ s disease it is a rare auto￭ som￭ al rec￭ essive metabol￭ ic disorder affecting hem￭ e caused by deficiency of the enzyme u￭ ro￭ por￭ phy￭ rin￭ o￭ gen co￭ synthe￭ t￭ ase it is extremely rare with a prevalence estimated at 1 in 1 000 000 or less there have been times that prior to birth of a fe￭ tus gun￭ ther s disease has been shown to lead to an￭ emia in mil￭ der cases patients have not presented any symptoms until they have reached adul￭ thood in gun￭ ther s disease por￭ phy￭ r￭ ins are accumulated in the teeth and bones and an increased amount are seen in the plasma bone marrow f￭ ec￭ es red blood cells and urine
er￭ y￭ thro￭ po￭ ie￭ tic prot￭ op￭ or￭ phy￭ ria
por￭ phy￭ ria
por￭ phy￭ ria is a group of rare diseases in which chemical substances called por￭ phy￭ r￭ ins accumulate leading to either skin changes or neuro￭ logical symptoms or sometimes both the body requires por￭ phy￭ r￭ ins to produce hem￭ e which carries oxygen in the blood but in the por￭ phy￭ ri￭ as there is a deficiency inherited or acquired of the enzymes that transform the various por￭ phy￭ r￭ ins into others leading to abnormally high levels of one or more of these substances
por￭ phy￭ ria cu￭ tane￭ a tar￭ da
por￭ phy￭ ria cu￭ tane￭ a tar￭ da pc￭ t is the most common subtype of por￭ phy￭ ria the disease is named because it is a por￭ phy￭ ria that often presents with skin manifestations later in life the disorder results from low levels of the enzyme responsible for the fifth step in hem￭ e production hem￭ e is a vital mol￭ ecu￭ le for all of the body s organs it is a component of h￭ emo￭ glob￭ in the mol￭ ecu￭ le that carries oxygen in the blood he￭ pat￭ o￭ er￭ y￭ thro￭ po￭ ie￭ tic por￭ phy￭ ria has been described as a homo￭ zy￭ g￭ ous form of por￭ phy￭ ria cu￭ tane￭ a tar￭ da although it can also be caused if two different mutations occur at the same loc￭ us
acute inter￭ mit￭ tent por￭ phy￭ ria
acute inter￭ mit￭ tent por￭ phy￭ ria ai￭ p is a rare auto￭ som￭ al dominant metabol￭ ic disorder affecting the production of hem￭ e the oxygen binding pro￭ s￭ thetic group of h￭ emo￭ glob￭ in it is characterized by a deficiency of the enzyme por￭ pho￭ bil￭ ino￭ gen de￭ amin￭ ase acute inter￭ mit￭ tent por￭ phy￭ ria is the second most common form of por￭ phy￭ ria por￭ phy￭ ria cu￭ tane￭ a tar￭ da being the most common its incidence is estimated to be between 5 and 10 in 100 000 but this is likely underestimated because of positive cases not being induced and long periods of lat￭ ency with an estimation that it is latent in 90 of cases
hereditary co￭ propor￭ phy￭ ria
hereditary co￭ propor￭ phy￭ ria h￭ cp is a disorder of hem￭ e bio￭ synthesis classified as an acute he￭ p￭ atic por￭ phy￭ ria h￭ cp is caused by a deficiency of the enzyme co￭ propor￭ phy￭ rin￭ o￭ gen oxid￭ ase coded for by the c￭ pox gene and is inherited in an auto￭ som￭ al dominant fashion although homo￭ zy￭ g￭ ous individuals have been identified unlike acute inter￭ mit￭ tent por￭ phy￭ ria individuals with h￭ cp can present with cu￭ taneous findings similar to those found in por￭ phy￭ ria cu￭ tane￭ a tar￭ da in addition to the acute attacks of ab￭ domin￭ al pain v￭ om￭ iting and neuro￭ logical dysfunction characteristic of acute por￭ phy￭ ri￭ as like other por￭ phy￭ ri￭ as attacks of h￭ cp can be induced by certain drugs environmental stres￭ sors or diet changes bio￭ chemical and molecular testing can be used to narrow down the diagnosis of a por￭ phy￭ ria and identify
hereditary co￭ propor￭ phy￭ ria h￭ cp is a disorder of hem￭ e bio￭ synthesis classified as an acute he￭ p￭ atic por￭ phy￭ ria h￭ cp is caused by a deficiency of the enzyme co￭ propor￭ phy￭ rin￭ o￭ gen oxid￭ ase coded for by the c￭ pox gene and is inherited in an auto￭ som￭ al dominant fashion although homo￭ zy￭ g￭ ous individuals have been identified unlike acute inter￭ mit￭ tent por￭ phy￭ ria individuals with h￭ cp can present with cu￭ taneous findings similar to those found in por￭ phy￭ ria cu￭ tane￭ a tar￭ da in addition to the acute attacks of ab￭ domin￭ al pain v￭ om￭ iting and neuro￭ logical dysfunction characteristic of acute por￭ phy￭ ri￭ as like other por￭ phy￭ ri￭ as attacks of h￭ cp can be induced by certain drugs environmental stres￭ sors or diet changes bio￭ chemical and molecular testing can be used to narrow down the diagnosis of a por￭ phy￭ ria and identify the specific genetic defect overall por￭ phy￭ ri￭ as are rare diseases the combined incidence for all forms of the disease has been estimated at 1 20 000 the exact incidence of h￭ cp is difficult to determine due to its reduced penetr￭ ance
vari￭ eg￭ ate por￭ phy￭ ria
ac￭ at￭ al￭ asia
ac￭ at￭ al￭ asia also called ac￭ at￭ al￭ as￭ emia or tak￭ a￭ hara s disease is an auto￭ som￭ al rec￭ essive per￭ ox￭ isom￭ al disorder caused by a complete lack of catal￭ ase
gil￭ bert s syndrome
gil￭ bert s syndrome gs is a common genetic liver disorder found in 3 12 of the population it produces elevated levels of un￭ con￭ ju￭ gated bi￭ li￭ rubin in the blood￭ stream hyper￭ bi￭ li￭ ru￭ bin￭ emia but this normally has no serious consequences although mild ja￭ und￭ ice may appear under conditions of exer￭ tion or stress
cri￭ gl￭ er – naj￭ jar syndrome
cri￭ gl￭ er – naj￭ jar syndrome or cns is a rare inherited disorder affecting the metabol￭ ism of bi￭ li￭ rubin a chemical formed from the breakdown of the hem￭ e in red blood cells the disorder results in a form of non￭ hem￭ ol￭ y￭ tic ja￭ und￭ ice which results in high levels of un￭ con￭ ju￭ gated bi￭ li￭ rubin and often leads to brain damage in infants the disorder is inherited in an auto￭ som￭ al rec￭ essive manner
ro￭ tor syndrome
ro￭ tor syndrome also called ro￭ tor type hyper￭ bi￭ li￭ ru￭ bin￭ emia is a rare relatively benign auto￭ som￭ al rec￭ essive bi￭ li￭ rubin disorder it is a distinct yet similar disorder to du￭ bin – johnson syndrome — both diseases cause an increase in con￭ ju￭ gated bi￭ li￭ rubin
du￭ bin – johnson syndrome
du￭ bin – johnson syndrome dj￭ s is a rare auto￭ som￭ al rec￭ essive benign disorder that causes an isolated increase of con￭ ju￭ gated bi￭ li￭ rubin in the serum class￭ ically the condition causes a black liver due to the de￭ position of a pig￭ ment similar to mel￭ an￭ in this condition is associated with a defect in the ability of he￭ pat￭ oc￭ y￭ tes to secre￭ te con￭ ju￭ gated bi￭ li￭ rubin into the bile and is similar to ro￭ tor syndrome it is usually as￭ ymp￭ tomatic but may be diagnosed in early infancy based on laboratory tests no treatment is usually needed
men￭ kes disease
men￭ kes disease m￭ nk also known as men￭ kes syndrome is an x linked rec￭ essive disorder that affects copper levels in the body leading to copper deficiency the onset of men￭ kes disease typically begins during infancy affecting about 1 in 100 000 to 250 000 new￭ bor￭ ns infants with m￭ nk syndrome often do not live past the age of 3 it is more common in males than females because it only takes one copy of the x linked rec￭ essive gene to be expressed for a male to develop the disease in order for females to develop the disorder they would need to express two copies of the gene one on each x chro￭ mo￭ some to develop the disorder m￭ nk is characterized by kin￭ ky hair growth failure and deterioration of the nervous system it is caused by mutations in the copper transport gene at￭ p 7 a which is res￭ p
wilson s disease
wilson s disease is an auto￭ som￭ al rec￭ essive genetic disorder in which copper accumul￭ ates in tissues this manifests as neuro￭ logical or psychiatric symptoms and liver disease it is treated with medication that reduces copper absorption or removes the excess copper from the body but occasionally a liver transplant is required
wilson s disease is an auto￭ som￭ al rec￭ essive genetic disorder in which copper accumul￭ ates in tissues this manifests as neuro￭ logical or psychiatric symptoms and liver disease it is treated with medication that reduces copper absorption or removes the excess copper from the body but occasionally a liver transplant is required the condition is due to mutations in the wilson disease protein at￭ p 7 b gene a single abnormal copy of the gene is present in 1 in 100 people who do not develop any symptoms they are carriers if a child inher￭ its the gene from both parents the child may develop wilson s disease symptoms usually appear between the ages of 6 and 20 years but cases in much older people have been described wilson s disease occurs in 1 to 4 per 100 000 people it is named after samuel alexander kin￭ nier wilson 18￭ 78 – 19￭ 37 the british neuro￭ logist who first described the condition in 19￭ 12
ac￭ er￭ ul￭ op￭ las￭ min￭ emia
acro￭ der￭ mati￭ tis enter￭ opath￭ ica
hypo￭ phosp￭ hat￭ asia
hypo￭ phosp￭ hat￭ asia is a rare and sometimes fatal metabol￭ ic bone disease clinical symptoms are heterogeneous ranging from the rapidly fatal per￭ in￭ atal variant with profound sk￭ el￭ etal hypo￭ miner￭ alization and respiratory compromise to a mil￭ der progressive o￭ ste￭ om￭ al￭ ac￭ ia later in life tissue non specific al￭ kal￭ ine phosp￭ hat￭ ase tn￭ sal￭ p deficiency in o￭ ste￭ obl￭ asts and ch￭ on￭ dro￭ cy￭ tes imp￭ airs bone miner￭ alization leading to ric￭ kets or o￭ ste￭ om￭ al￭ ac￭ ia the path￭ og￭ no￭ mon￭ ic finding is sub￭ normal serum activity of the tn￭ sal￭ p enzyme which is caused by one of 200 genetic mutations identified to date in the gene en￭ coding tn￭ sal￭ p genetic inheritance is auto￭ som￭ al rec￭ essive for the per￭ in￭ atal and inf￭ anti￭ le forms but either auto￭ som￭ al rec￭ essive or auto￭ som￭ al dominant in the mil￭ der forms the prevalence of hypo￭ phosp￭ hat
hypo￭ phosp￭ hat￭ emia
hypo￭ phosp￭ hat￭ emia is an electro￭ ly￭ te disturbance in which there is an abnormally low level of phosphate in the blood the condition has many causes but is most commonly seen when mal￭ nourished patients especially chronic alcohol￭ ics are given large amounts of carbo￭ hydr￭ ates which creates a high phosphorus demand by cells removing phosphate from the blood ref￭ ee￭ ding syndrome
hyper￭ mag￭ nes￭ emia
hyper￭ mag￭ nes￭ emia is an electro￭ ly￭ te disturbance in which there is a high level of magnesium in the blood it is defined as a level greater than 1 1 m￭ mol l symptoms include weakness confusion decreased breathing rate and cardiac arrest hyper￭ mag￭ nes￭ emia can occur in kidney failure and those who are given magnesium salts or who take drugs that contain magnesium e g some an￭ tac￭ ids and lax￭ atives it is usually con￭ current with other electro￭ ly￭ te disturbances such as a low blood calcium and or high blood potassium level specific electro￭ cardi￭ o￭ gram ec￭ g changes may be present
hyper￭ cal￭ ca￭ emia
hyper￭ cal￭ ca￭ emia also spelled hyper￭ cal￭ cem￭ ia is a high calcium ca 2 level in the blood serum the normal range is 2 1 – 2 6 m￭ mol l 8 8 – 10 7 mg dl 4 3 – 5 2 me￭ q l with levels greater than 2 6 m￭ mol l defined as hyper￭ cal￭ cem￭ ia those with a mild increase that has developed slowly typically have no symptoms in those with greater levels or rapid onset symptoms may include ab￭ domin￭ al pain bone pain confusion depression weakness kidney stones or an abnormal heart rhythm including cardiac arrest
hypo￭ cal￭ ca￭ emia
hypo￭ cal￭ ca￭ emia also spelled hypo￭ cal￭ cem￭ ia is low calcium levels in the blood serum the normal range is 2 1 – 2 6 m￭ mol l 8 8 – 10 7 mg dl 4 3 – 5 2 me￭ q l with levels less than 2 1 m￭ mol l defined as hypo￭ cal￭ cem￭ ia mildly low levels that develop slowly often have no symptoms otherwise symptoms may include num￭ b￭ ness muscle sp￭ as￭ ms seizures confusion or cardiac arrest
ne￭ ph￭ ro￭ cal￭ cin￭ osis
ne￭ ph￭ ro￭ cal￭ cin￭ osis once known as al￭ bright s cal￭ cin￭ osis after fuller al￭ bright or anderson car￭ r kidneys is a term originally used to describe de￭ position of calcium salts in the ren￭ al paren￭ ch￭ y￭ ma due to hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m it is now more commonly used to describe diffuse fine ren￭ al paren￭ ch￭ ym￭ al calci￭ fication on radi￭ ology during its early stages ne￭ ph￭ ro￭ cal￭ cin￭ osis is visible on x ray and appears as a fine gran￭ ular mo￭ tt￭ ling over the ren￭ al outlines these outlines eventually come together to form a dense mass it is most commonly seen as an incidental finding with med￭ ul￭ l￭ ary spon￭ ge kidney on an ab￭ domin￭ al x ray however it may be severe enough to cause as well as be caused by ren￭ al tu￭ bul￭ ar aci￭ do￭ sis or even end stage ren￭ al failure due to disruption of the ren￭ al tissue by the deposited calcium
c￭ ys￭ tic fi￭ bro￭ sis
c￭ ys￭ tic fi￭ bro￭ sis cf is a genetic disorder that affects mostly the lungs but also the pan￭ cre￭ as liver kidneys and intest￭ ine long term issues include difficulty breathing and cou￭ gh￭ ing up m￭ uc￭ us as a result of frequent lung infections other signs and symptoms include sin￭ us infections poor growth fatty sto￭ ol clu￭ bbing of the fingers and toes and in￭ fertility in males among others different people may have different degrees of symptoms
c￭ ys￭ tic fi￭ bro￭ sis cf is a genetic disorder that affects mostly the lungs but also the pan￭ cre￭ as liver kidneys and intest￭ ine long term issues include difficulty breathing and cou￭ gh￭ ing up m￭ uc￭ us as a result of frequent lung infections other signs and symptoms include sin￭ us infections poor growth fatty sto￭ ol clu￭ bbing of the fingers and toes and in￭ fertility in males among others different people may have different degrees of symptoms cf is inherited in an auto￭ som￭ al rec￭ essive manner it is caused by the presence of mutations in both copies of the gene for the c￭ ys￭ tic fi￭ bro￭ sis trans￭ memb￭ rane conduc￭ tance regulator cf￭ tr protein those with a single working copy are carriers and otherwise mostly normal cf￭ tr is involved in production of sweat dig￭ estive fluids and m￭ uc￭ us when cf￭ tr is not functional secre￭ tions which are usually thin instead become thick the condition is diagnosed by a sweat test and genetic testing screening of infants at birth takes place in some areas of the world no cure for c￭ ys￭ tic fi￭ bro￭ sis is known lung infections are treated with antibiotics which may be given intra￭ ven￭ ously inhal￭ ed or by mouth sometimes the antibiotic azi￭ thro￭ my￭ cin is used long term inhal￭ ed hyper￭ tonic sal￭ ine and sal￭ but￭ am￭ ol may also be useful lung transplantation may be an option if lung function continues to worsen pan￭ cre￭ atic enzyme replacement and fat soluble vitamin supplem￭ entation are important especially in the young air￭ way clearance techniques such as chest physi￭ otherapy have some short term benefit but long term effects are unclear the average life expectancy is between 42 and 50 years in the developed world lung problems are responsible for death in 80 of people with c￭ ys￭ tic fi￭ bro￭ sis cf is most common among people of northern european ance￭ stry and affects about one out of every 3 000 new￭ bor￭ ns about one in 25 people is a carrier it is least common in africans and asians it was first recognized as a specific disease by dorothy ander￭ sen in 1938 with descriptions that fit the condition occurring at least as far back as 15￭ 95 the name c￭ ys￭ tic fi￭ bro￭ sis refers to the characteristic fi￭ bro￭ sis and cy￭ sts that form within the pan￭ cre￭ as
amy￭ lo￭ ido￭ sis
amy￭ lo￭ ido￭ sis is a rare and serious disease caused by accumulation of proteins in the form of abnormal in￭ soluble fibres known as amy￭ loid fi￭ bri￭ ls within the ex￭ trac￭ ell￭ ular space in the tissues of the body amy￭ loid deposits can be confined to only one part of the body or a single organ system in local amy￭ lo￭ ido￭ sis or they can be widely distributed in organs and tissues throughout the body in systemic amy￭ lo￭ ido￭ sis the symptoms of amy￭ lo￭ ido￭ sis are accordingly highly variable and confirmation of the presence of amy￭ loid in the tissues can be challenging so that diagnosis is often delayed
amy￭ lo￭ ido￭ sis is a rare and serious disease caused by accumulation of proteins in the form of abnormal in￭ soluble fibres known as amy￭ loid fi￭ bri￭ ls within the ex￭ trac￭ ell￭ ular space in the tissues of the body amy￭ loid deposits can be confined to only one part of the body or a single organ system in local amy￭ lo￭ ido￭ sis or they can be widely distributed in organs and tissues throughout the body in systemic amy￭ lo￭ ido￭ sis the symptoms of amy￭ lo￭ ido￭ sis are accordingly highly variable and confirmation of the presence of amy￭ loid in the tissues can be challenging so that diagnosis is often delayed amy￭ loid fi￭ bri￭ ls are formed by aggregation clum￭ ping of normally soluble body proteins and accumulate progressively forming amy￭ loid deposits which disrupt the normal tissue architecture damaging the function of tissues and organs and causing disease in contrast to the normally efficient clearance of abnormal debris from the tissues amy￭ loid deposits are removed very slowly if at all there are many different types of amy￭ lo￭ ido￭ sis each caused by formation of amy￭ loid fi￭ bri￭ ls from different soluble precursor proteins in different patients about 30 different proteins are known to form amy￭ loid fi￭ bri￭ ls in humans and amy￭ lo￭ ido￭ sis is named and classified according to the identity of the respective fi￭ bri￭ l protein
famili￭ al mediterranean fever
famili￭ al mediterranean fever f￭ m￭ f also known as armenian disease is a hereditary infl￭ am￭ matory disorder f￭ m￭ f is an auto￭ infl￭ am￭ matory disease caused by mutations in me￭ f￭ v a gene which en￭ codes a 7￭ 81 – amino acid protein den￭ oted py￭ rin while all ethnic groups are susceptible to f￭ m￭ f it usually occurs in people of mediterranean origin — including se￭ phar￭ d￭ ic jews armenians arabs greeks and italians
m￭ uc￭ kle – wells syndrome
m￭ uc￭ kle – wells syndrome m￭ ws also known as ur￭ tic￭ aria deaf￭ ness amy￭ lo￭ ido￭ sis syndrome u￭ da is a rare auto￭ som￭ al dominant disease which causes sens￭ or￭ in￭ eur￭ al deaf￭ ness recurrent hi￭ ves and can lead to amy￭ lo￭ ido￭ sis individuals with m￭ ws often have ep￭ is￭ od￭ ic fever ch￭ ills and joint pain as a result m￭ ws is considered a type of periodic fever syndrome m￭ ws is caused by a defect in the ci￭ as 1 gene which creates the protein cry￭ op￭ y￭ rin m￭ ws is closely related to two other syndro￭ mes famili￭ al cold ur￭ tic￭ aria and ne￭ on￭ atal onset multi￭ system infl￭ am￭ matory disease — in fact all three are related to mutations in the same gene and sub￭ sum￭ ed under the term cry￭ op￭ y￭ rin associated periodic syndro￭ mes caps
dehydr￭ ation
dehydr￭ ation refers to a deficit of total body water with an accompanying disruption of metabol￭ ic processes dehydr￭ ation is also a cause for hyper￭ nat￭ re￭ mia the term dehydr￭ ation is distinct from hypo￭ vol￭ emia loss of blood volume particularly plasma
hypo￭ vol￭ emia
water – electro￭ ly￭ te imbalance
the most serious electro￭ ly￭ te disturbances involve ab￭ norm￭ alities in the levels of sodium potassium or calcium other electro￭ ly￭ te imbalances are less common and often occur in conjunction with major electro￭ ly￭ te changes chronic lax￭ ative abuse or severe diarr￭ hea or v￭ om￭ iting gastro￭ enter￭ i￭ tis can lead to electro￭ ly￭ te disturbances along with dehydr￭ ation people suffering from bu￭ li￭ mia or an￭ ore￭ x￭ ia ner￭ vo￭ sa are at especially high risk for an electro￭ ly￭ te imbalance
hyper￭ nat￭ re￭ mia
hyper￭ nat￭ re￭ mia also spelled hyper￭ nat￭ ra￭ emia is a high sodium level in the blood early symptoms may include a strong feeling of thirst weakness naus￭ ea and loss of appetite severe symptoms include confusion muscle tw￭ it￭ ching and bleeding in or around the brain normal serum sodium levels are 135 145 m￭ mol l 135 145 me￭ q l hyper￭ nat￭ re￭ mia is generally defined as a serum sodium level of more than 145 m￭ mol l severe symptoms typically only occur when levels are above 160 m￭ mol l
hyper￭ nat￭ re￭ mia also spelled hyper￭ nat￭ ra￭ emia is a high sodium level in the blood early symptoms may include a strong feeling of thirst weakness naus￭ ea and loss of appetite severe symptoms include confusion muscle tw￭ it￭ ching and bleeding in or around the brain normal serum sodium levels are 135 145 m￭ mol l 135 145 me￭ q l hyper￭ nat￭ re￭ mia is generally defined as a serum sodium level of more than 145 m￭ mol l severe symptoms typically only occur when levels are above 160 m￭ mol l the cause of hyper￭ nat￭ re￭ mia is typically classified by a person s fluid status into low volume normal volume and high volume low volume hyper￭ nat￭ re￭ mia can occur from swe￭ ating v￭ om￭ iting diarr￭ hea di￭ u￭ re￭ tic medication or kidney disease normal volume hyper￭ nat￭ re￭ mia can be due to fever in￭ appropriately decreased thirst a prolonged increased breath rate and diabetes insi￭ pi￭ dus from lith￭ ium among other causes high volume hyper￭ nat￭ re￭ mia can be due to hyper￭ al￭ do￭ ster￭ on￭ ism be health care caused such as when too much intra￭ ven￭ ous 3 normal sal￭ ine or sodium bic￭ ar￭ b is given or rarely be from eating too much salt low blood protein levels can result in a fal￭ sely high sodium measurement the cause can usually be determined by the history of events testing the urine can help if the cause is unclear if the onset of hyper￭ nat￭ re￭ mia was over a few hours than it can be corrected relatively quickly using intra￭ ven￭ ous normal sal￭ ine and 5 d￭ ext￭ rose otherwise correction should occur slowly with for those unable to drink water half normal sal￭ ine hyper￭ nat￭ re￭ mia due to diabetes insi￭ pi￭ dus as a result of a brain disorder may be treated with the medication des￭ mop￭ res￭ sin if the diabetes insi￭ pi￭ dus is due to kidney problems the medication which is causing it may need to be stopped hyper￭ nat￭ re￭ mia affects 0 3 1 of people in hospital it most often occurs in babies those with impaired mental status and those who are old hyper￭ nat￭ re￭ mia is associated with an increases the risk of death but it is unclear if it is the cause
hy￭ pon￭ at￭ re￭ mia
hy￭ pon￭ at￭ re￭ mia also spelled hy￭ pon￭ at￭ ra￭ emia is a low sodium level in the blood symptoms can vary from none to severe mild symptoms include a decreased ability to think headaches naus￭ ea and poor balance severe symptoms include confusion seizures and coma normal serum sodium levels are 135 145 m￭ mol l 135 145 me￭ q l hy￭ pon￭ at￭ re￭ mia is generally defined as a serum sodium level of less than 135 m￭ mol l and is considered severe when the level is below 120 m￭ mol l
hy￭ pon￭ at￭ re￭ mia also spelled hy￭ pon￭ at￭ ra￭ emia is a low sodium level in the blood symptoms can vary from none to severe mild symptoms include a decreased ability to think headaches naus￭ ea and poor balance severe symptoms include confusion seizures and coma normal serum sodium levels are 135 145 m￭ mol l 135 145 me￭ q l hy￭ pon￭ at￭ re￭ mia is generally defined as a serum sodium level of less than 135 m￭ mol l and is considered severe when the level is below 120 m￭ mol l the cause of hy￭ pon￭ at￭ re￭ mia is typically classified by a person s fluid status into low volume normal volume and high volume low volume hy￭ pon￭ at￭ re￭ mia can occur from diarr￭ hea v￭ om￭ iting di￭ u￭ re￭ tics and swe￭ ating normal volume hy￭ pon￭ at￭ re￭ mia is divided into cases with dilute urine and concentrated urine cases in which the urine is dilute include adren￭ al in￭ sufficiency hypo￭ thyro￭ i￭ dis￭ m and drinking too much water or too much beer cases in which the urine is concentrated include syndrome of inappropriate anti￭ di￭ u￭ re￭ tic hormone secre￭ tion si￭ adh high volume hy￭ pon￭ at￭ re￭ mia can occur from heart failure liver failure and kidney failure conditions that can lead to fal￭ sely low sodium measurements include high protein levels such as in multiple my￭ el￭ oma high blood fat levels and high blood sugar treatment is based on the underlying cause correcting hy￭ pon￭ at￭ re￭ mia too quickly can lead to complications rapid partial correction with 3 normal sal￭ ine is only recommended in those with significant symptoms and occasionally those in whom the condition was of rapid onset low volume hy￭ pon￭ at￭ re￭ mia is typically treated with intra￭ ven￭ ous normal sal￭ ine si￭ adh is typically treated with fluid restriction while high volume hy￭ pon￭ at￭ re￭ mia is typically treated with both fluid restriction and a diet low in salt correction in those in whom the low levels have been present for more than two days should generally be gradual hy￭ pon￭ at￭ re￭ mia is one of the most commonly seen water – electro￭ ly￭ te imbalances it occurs in about 20 of those admitted to hospital and 10 of people during or after an end￭ ur￭ ance sporting event among those in hospital hy￭ pon￭ at￭ re￭ mia is associated with an increased risk of death the economic costs of hy￭ pon￭ at￭ re￭ mia are estimated at 2 6 billion in the united states
respiratory aci￭ do￭ sis
respiratory aci￭ do￭ sis is a medical emergency in which decreased ventilation hypo￭ ventilation increases the concentration of carbon dioxide in the blood and decreases the blood s ph a condition generally called aci￭ do￭ sis carbon dioxide is produced continuously as the body s cells resp￭ ire and this co 2 will accumulate rapidly if the lungs do not adequately expel it through al￭ ve￭ ol￭ ar ventilation al￭ ve￭ ol￭ ar hypo￭ ventilation thus leads to an increased pac￭ o 2 a condition called hyper￭ cap￭ nia the increase in pac￭ o 2 in turn decreases the h￭ co 3 − pac￭ o 2 ratio and decreases ph
lac￭ tic aci￭ do￭ sis
lac￭ tic aci￭ do￭ sis is a medical condition characterized by the buil￭ dup of lact￭ ate especially l lact￭ ate in the body with as a result an excessively low ph it is a subtype of metabol￭ ic aci￭ do￭ sis where there is excessive acid due to a problem with the body s metabol￭ ism lac￭ tic aci￭ do￭ sis is typically the result of an underlying acute or chronic medical condition medication or poisoning the symptoms are generally attributable to these underlying causes but may include naus￭ ea v￭ om￭ iting rapid deep breathing and generalised weakness
lac￭ tic aci￭ do￭ sis is a medical condition characterized by the buil￭ dup of lact￭ ate especially l lact￭ ate in the body with as a result an excessively low ph it is a subtype of metabol￭ ic aci￭ do￭ sis where there is excessive acid due to a problem with the body s metabol￭ ism lac￭ tic aci￭ do￭ sis is typically the result of an underlying acute or chronic medical condition medication or poisoning the symptoms are generally attributable to these underlying causes but may include naus￭ ea v￭ om￭ iting rapid deep breathing and generalised weakness the diagnosis is made on bio￭ chemical analysis of blood often initially on arter￭ ial blood gas samples and once confirmed there is generally a need to establish the underlying cause to treat the aci￭ do￭ sis in some situations hem￭ of￭ iltr￭ ation purification of the blood is temporarily required in rare chronic forms of lac￭ tic aci￭ do￭ sis caused by mit￭ och￭ on￭ dri￭ al disease a specific diet or dic￭ hlor￭ o￭ acetate may be used the prog￭ no￭ sis of lac￭ tic aci￭ do￭ sis depends largely on the underlying cause in some situations such as severe infections it indicates an increased risk of death
aci￭ do￭ sis
aci￭ do￭ sis is an increased acidity in the blood and other body tissue i e an increased hydrogen ion concentration if not further qualified it usually refers to acidity of the blood plasma aci￭ do￭ sis is said to occur when arter￭ ial ph falls below 7 35 except in the fe￭ tus see below while its counterpart al￭ k￭ alo￭ sis occurs at a ph over 7 45 arter￭ ial blood gas analysis and other tests are required to separate the main causes
metabol￭ ic al￭ k￭ alo￭ sis
metabol￭ ic al￭ k￭ alo￭ sis is a metabol￭ ic condition in which the ph of tissue is elevated beyond the normal range 7 35 7 45 this is the result of decreased hydrogen ion concentration leading to increased bic￭ ar￭ bon￭ ate or alternatively a direct result of increased bic￭ ar￭ bon￭ ate concentrations
respiratory al￭ k￭ alo￭ sis
respiratory al￭ k￭ alo￭ sis is a medical condition in which increased respir￭ ation elev￭ ates the blood ph beyond the normal range 7 35 7 45 with a con￭ current reduction in arter￭ ial levels of carbon dioxide this condition is one of the four basic categories of disruption of acid base home￭ ost￭ asis
al￭ k￭ alo￭ sis
al￭ k￭ alo￭ sis is the result of a process reducing hydrogen ion concentration of arter￭ ial blood plasma al￭ kal￭ emia in contrast to aci￭ dem￭ ia serum ph 7 35 or lower al￭ kal￭ emia occurs when the serum ph is higher than normal 7 45 or higher al￭ k￭ alo￭ sis is usually divided into the categories of respiratory al￭ k￭ alo￭ sis and metabol￭ ic al￭ k￭ alo￭ sis or a combined respiratory metabol￭ ic al￭ k￭ alo￭ sis
hyper￭ kal￭ emia
hyper￭ kal￭ emia also spelled hyper￭ kal￭ aemia is an elevated level of potassium k in the blood serum normal potassium levels are between 3 5 and 5 0 m￭ mol l 3 5 and 5 0 me￭ q l with levels above 5 5 m￭ mol l defined as hyper￭ kal￭ emia typically this results in no symptoms occasionally when severe it results in pal￭ p￭ itations muscle pain muscle weakness or num￭ b￭ ness an abnormal heart rate can occur which can result in cardiac arrest and death
hypo￭ kal￭ emia
hypo￭ kal￭ emia also spelled hypo￭ kal￭ aemia is a low level of potassium k in the blood serum normal potassium levels are between 3 5 and 5 0 m￭ mol l 3 5 and 5 0 me￭ q l with levels below 3 5 m￭ mol l defined as hypo￭ kal￭ emia mildly low levels do not typically cause symptoms symptoms may include feeling tired leg cram￭ ps weakness and con￭ sti￭ p￭ ation it increases the risk of an abnormal heart rhythm such as brad￭ y￭ car￭ dia and cardiac arrest
hyper￭ vol￭ emia
hyper￭ vol￭ emia or fluid overload is the medical condition where there is too much fluid in the blood the opposite condition is hypo￭ vol￭ emia which is too little fluid volume in the blood fluid volume excess in the intr￭ av￭ ascular compartment occurs due to an increase in total body sodium content and a consequent increase in ex￭ trac￭ ell￭ ular body water the mechanism usually stems from compromised regulatory mechanisms for sodium handling as seen in cong￭ estive heart failure chf kidney failure and liver failure it may also be caused by excessive intake of sodium from foods intra￭ ven￭ ous iv solutions and blood trans￭ fu￭ sions medications or diagnostic contrast d￭ yes treatment typically includes administration of di￭ u￭ re￭ tics and restriction of the intake of water fluids sodium and salt
water in￭ tox￭ ication
water in￭ tox￭ ication also known as water poisoning or hyper￭ hydr￭ ation is a potentially fatal disturbance in brain functions that results when the normal balance of electro￭ ly￭ tes in the body is pushed outside safe limits by over￭ hydr￭ ation water just like any other substance can be considered a poison when over consumed in a specific period of time water in￭ tox￭ ication mostly occurs when water is being consumed in a high quantity without adequate electro￭ ly￭ te intake
alpha 1 anti￭ try￭ p￭ sin deficiency
alpha 1 anti￭ try￭ p￭ sin deficiency α 1 anti￭ try￭ p￭ sin deficiency a 1 ad is a genetic disorder that causes defective production of alpha 1 anti￭ try￭ p￭ sin a 1 at leading to decreased a 1 at activity in the blood and lungs and de￭ position of excessive abnormal a 1 at protein in liver cells there are several forms and degrees of deficiency the form and degree depend on whether the suffer￭ er has one or two copies of a defective alle￭ le in the literature it has been described as either a rec￭ essive or co dominant trait as there is some evidence that smoking hetero￭ zy￭ go￭ tes are affected severe a 1 at deficiency causes pan￭ ac￭ in￭ ar emph￭ ys￭ ema or cop￭ d in adult life in many people with the condition especially if they are exposed to cigarette smoke the disorder can lead to various liver diseases in a minority of chi
hypo￭ albu￭ min￭ emia
hypo￭ albu￭ min￭ emia or hypo￭ albu￭ min￭ aemia is a medical sign in which the level of albumin in the blood is abnormally low it is a type of hypo￭ prote￭ in￭ emia albumin is a major protein in the human body making up about 55 60 of total human plasma protein by mass many hormones drugs and other molecules are mostly bound to albumin in the blood￭ stream and must be released before becoming bio￭ logically active for example calcium binds to albumin and hypo￭ albu￭ min￭ emia leads to an increase in free ion￭ ized calcium hypo￭ albu￭ min￭ emia may cause generalized e￭ dem￭ a sw￭ elling via a decrease in on￭ co￭ tic pressure
li￭ po￭ dy￭ stro￭ phy
li￭ po￭ dy￭ stro￭ phy is a medical condition characterized by abnormal or degenerative conditions of the body s adi￭ pose tissue li￭ po is greek for fat and dy￭ stro￭ phy is greek for abnormal or degenerative condition a more specific term li￭ po￭ atro￭ phy is used when describing the loss of fat from one area usually the face this condition is also characterized by a lack of circulating le￭ p￭ tin which may lead to o￭ ste￭ os￭ clerosis
con￭ genital generalized li￭ po￭ dy￭ stro￭ phy
con￭ genital generalized li￭ po￭ dy￭ stro￭ phy also known as ber￭ ar￭ din￭ elli – se￭ ip syndrome is an extremely rare auto￭ som￭ al rec￭ essive skin condition characterized by an extreme scarcity of fat in the sub￭ cu￭ taneous tissues only 250 cases of the condition have been reported and it is estimated that it occurs in 1 in 10 million people worldwide
li￭ po￭ mat￭ osis
li￭ po￭ mat￭ osis is believed to be an auto￭ som￭ al dominant condition in which multiple li￭ po￭ mas are present on the body many dis￭ crete en￭ capsul￭ ated li￭ po￭ mas form on the trunk and extre￭ mi￭ ties with relatively few on the head and shoulders in 1993 a genetic poly￭ morph￭ ism within li￭ po￭ mas was loc￭ alized to chro￭ mo￭ some 12 q 15 where the h￭ m￭ gic gene en￭ codes the high mobility group protein iso￭ form i c this is one of the most commonly found mutations in solitary li￭ po￭ mat￭ ous tumors but li￭ po￭ mas often have multiple mutations reciprocal trans￭ locations involving chro￭ mo￭ som￭ es 12 q 13 and 12 q 14 have also been observed within
adi￭ pos￭ is dol￭ or￭ osa
adi￭ pos￭ is dol￭ or￭ osa also known as der￭ cu￭ m s disease or anders disease is a rare condition characterized by generalized obesity and fatty tumors in the adi￭ pose tissue the tumors are normally painful and found in multi￭ ples on the extre￭ mi￭ ties the understanding of the cause and mechanism of der￭ cu￭ m disease remains unknown possible causes include nervous system dysfunction mechanical pressure on nerves adi￭ pose tissue dysfunction and trauma der￭ cu￭ m s disease was first described at jefferson medical college by neuro￭ logist francis x￭ avi￭ er der￭ cu￭ m in 18￭ 92
tumor lysis syndrome
tumor lysis syndrome t￭ ls is a group of metabol￭ ic ab￭ norm￭ alities that can occur as a complic￭ ation during the treatment of cancer most commonly after the treatment of lymp￭ hom￭ as and leuk￭ emi￭ as in on￭ co￭ logy and hem￭ at￭ ology this is a potentially fatal complic￭ ation and patients at increased risk for t￭ ls should be closely monitored before during and after their course of chem￭ otherapy tumor lysis syndrome is characterized by high blood potassium hyper￭ kal￭ emia high blood phosphorus hyper￭ phosp￭ hat￭ emia low blood calcium hypo￭ cal￭ cem￭ ia high blood ur￭ ic acid hyper￭ ur￭ ic￭ emia and higher than normal levels of blood urea nitrogen bu￭ n and other nitrogen containing compounds these changes in blood electro￭ ly￭ tes and metabol￭ ites are a result of the release of cellular contents of dying cells into t
trim￭ ethyl￭ amin￭ ur￭ ia
trim￭ ethyl￭ amin￭ ur￭ ia t￭ ma￭ u primary trim￭ ethyl￭ amin￭ ur￭ ia also known as fish od￭ or syndrome or fish mal￭ od￭ or syndrome is a rare metabol￭ ic disorder that causes a defect in the normal production of an enzyme named flav￭ in containing mono￭ oxy￭ gen￭ ase 3 f￭ mo 3 when f￭ mo 3 is not working correctly or if not enough enzyme is produced the body loses the ability to properly convert trim￭ ethyl￭ amine t￭ ma from precursor compounds in food dig￭ estion into trim￭ ethyl￭ amine oxide t￭ mao through a process called n oxid￭ ation trim￭ ethyl￭ amine then builds up and is released in the person s sweat urine and breath giving off a strong fish￭ y od￭ or or strong body od￭ or a variant of t￭ ma￭ u secondary trim￭ ethyl￭ amin￭ ur￭ ia or t￭ ma￭ u 2 exists where there is no genetic cause yet excessive t￭ ma is secre￭ ted possibly due to intest￭ inal dy
metabol￭ ic syndrome
metabol￭ ic syndrome sometimes known by is a clu￭ stering of at least three of the five unfold into nine combination following medical conditions ab￭ domin￭ al central obesity cf to￭ fi elevated blood pressure elevated fast￭ ing plasma glucose high serum tri￭ gly￭ cer￭ ides low high density li￭ po￭ protein h￭ dl levels metabol￭ ic syndrome is associated with the risk of developing cardiovascular disease and type 2 diabetes some studies have shown the prevalence in the usa to be an estimated 34 of the adult population and the prevalence increases with age
metabol￭ ic syndrome sometimes known by is a clu￭ stering of at least three of the five unfold into nine combination following medical conditions ab￭ domin￭ al central obesity cf to￭ fi elevated blood pressure elevated fast￭ ing plasma glucose high serum tri￭ gly￭ cer￭ ides low high density li￭ po￭ protein h￭ dl levels metabol￭ ic syndrome is associated with the risk of developing cardiovascular disease and type 2 diabetes some studies have shown the prevalence in the usa to be an estimated 34 of the adult population and the prevalence increases with age insulin resistance metabol￭ ic syndrome and pre￭ diabetes are closely related to one another and have overlapping aspects the syndrome is thought to be caused by an underlying disorder of energy utilization and storage the cause of the syndrome is an area of ongoing medical research
dementia
dementia also known as sen￭ ility is a broad category of brain diseases that cause a long term and often gradual decrease in the ability to think and remember that is great enough to affect a person s daily functioning other common symptoms include emotional problems problems with language and a decrease in motivation a person s consciousness is usually not affected a dementia diagnosis requires a change from a person s usual mental functioning and a greater decline than one would expect due to aging these diseases also have a significant effect on a person s ca￭ reg￭ i￭ vers
dementia also known as sen￭ ility is a broad category of brain diseases that cause a long term and often gradual decrease in the ability to think and remember that is great enough to affect a person s daily functioning other common symptoms include emotional problems problems with language and a decrease in motivation a person s consciousness is usually not affected a dementia diagnosis requires a change from a person s usual mental functioning and a greater decline than one would expect due to aging these diseases also have a significant effect on a person s ca￭ reg￭ i￭ vers the most common type of dementia is alzheimer s disease which makes up 50 to 70 of cases other common types include vascular dementia 25 lew￭ y body dementia 15 and fron￭ to￭ temporal dementia less common causes include normal pressure hydro￭ cephal￭ us par￭ kinson s disease sy￭ phil￭ is and creutz￭ feldt – jakob disease among others more than one type of dementia may exist in the same person a small proportion of cases run in families in the dsm 5 dementia was reclassi￭ fied as a neuro￭ cognitive disorder with various degrees of severity diagnosis is usually based on history of the illness and cognitive testing with medical imaging and blood work used to rule out other possible causes the mini mental state examination is one commonly used cognitive test efforts to prevent dementia include trying to decrease risk factors such as high blood pressure smoking diabetes and obesity screening the general population for the disorder is not recommended there is no cure for dementia chol￭ in￭ est￭ erase inhi￭ bit￭ ors such as don￭ e￭ pe￭ z￭ il are often used and may be beneficial in mild to moderate disorder overall benefit however may be minor for people with dementia and those who care for them many measures can improve their lives cognitive and behavioral interventions may be appropriate educating and providing emotional support to the ca￭ reg￭ i￭ ver is important exercise programs are beneficial with respect to activities of daily living and potentially improve outcomes treatment of behavioral problems with anti￭ psycho￭ tics is common but not usually recommended due to the little benefit and side effects including an increased risk of death globally dementia affects 36 million people about 10 of people develop the disorder at some point in their lives it becomes more common with age about 3 of people between the ages of 65 – 74 have dementia 19 between 75 and 84 and nearly half of those over 85 years of age in 2013 dementia resulted in about 1 7 million deaths up from 0 8 million in 1990 as more people are living longer dementia is becoming more common in the population as a whole for people of a specific age however it may be becoming less frequent at least in the developed world due to a decrease in risk factors it is one of the most common causes of disability among the old it is believed to result in economic costs of 604 billion usd a year people with dementia are often physically or chemically restrained to a greater degree than necessary raising issues of human rights social stigma against those affected is common
amnesia
amnesia from greek meaning for￭ get￭ fulness from ἀ a meaning without and μ￭ ν￭ ή￭ σ￭ ις m￭ nes￭ is meaning memory also known as am￭ nes￭ ic syndrome is a deficit in memory caused by brain damage disease or psychological trauma amnesia can also be caused temporarily by the use of various sed￭ atives and hypno￭ tic drugs the memory can be either wholly or partially lost due to the extent of damage that was caused there are two main types of amnesia retrograde amnesia and an￭ ter￭ o￭ grade amnesia retrograde amnesia is the inability to retri￭ eve information that was acquired before a particular date usually the date of an accident or operation in some cases the memory loss can extend back decades while in others the person may lose only a few months of memory an￭ ter￭ o￭ grade amnesia is the in
deli￭ ri￭ um
deli￭ ri￭ um or acute confu￭ sional state is an organically caused decline from a previously attained baseline level of cognitive function it is ty￭ pi￭ fied by fluctu￭ ating course attenti￭ onal deficits and generalized severe dis￭ organization of behavior it typically involves other cognitive deficits changes in ar￭ ous￭ al hyper￭ active hypo￭ active or mixed percep￭ tual deficits altered sleep wake cycle and psychotic features such as halluc￭ inations and delu￭ sions
cat￭ at￭ onia
cat￭ at￭ onia is a state of neuro￭ genic motor im￭ mobility and behavioral ab￭ normality manifested by stu￭ por it was first described in 18￭ 74 by karl lud￭ wig kah￭ l￭ bau￭ m in die kat￭ at￭ on￭ ie oder das sp￭ ann￭ ung￭ sir￭ res￭ ein cat￭ at￭ onia or tension insan￭ ity
mild cognitive impairment
mild cognitive impairment mc￭ i also known as incipient dementia or isolated memory impairment is a brain function syndrome involving the onset and evolution of cognitive impair￭ ments beyond those expected based on the age and education of the individual but which are not significant enough to interfere with their daily activities it may occur as a transitional stage between normal aging and dementia although mc￭ i can present with a variety of symptoms when memory loss is the predominant symptom it is termed am￭ nes￭ tic mc￭ i and is frequently seen as a pro￭ dro￭ mal stage of alzheimer s disease studies suggest that these individuals tend to progress to probable alzheimer ’ s disease at a rate of approximately 10 to 15 per year
organic brain syndrome
an organic brain syndrome ob￭ s also known as an organic brain disease disorder ob￭ d an organic mental syndrome oms or an organic mental disorder om￭ d is a syndrome or disorder of mental function whose cause is alleged to be known as organic physi￭ o￭ logic rather than purely of the mind these names are older and nearly obsolete general terms from psychiatry referring to many physical disorders that cause impaired mental function they are meant to exclude psychiatric disorders mental disorders originally the term was created to distinguish physical termed organic causes of mental impairment from psychiatric termed functional disorders but during the era when this distinction was drawn not enough was known about brain science including neuro￭ science cognitive science
frontal lo￭ be disorder
kl￭ ü￭ ver – bu￭ cy syndrome
kl￭ ü￭ ver – bu￭ cy syndrome is a syndrome resulting from bilateral le￭ sions of the medi￭ al temporal lo￭ be including amy￭ gd￭ alo￭ id nucleus kl￭ ü￭ ver – bu￭ cy syndrome may present with hyper￭ p￭ ha￭ gia hy￭ pers￭ ex￭ uality hyper￭ or￭ ality visual agno￭ sia and do￭ ci￭ lity
dementia pu￭ gil￭ is￭ tica
dementia pu￭ gil￭ is￭ tica dp is a type of chronic traumatic encephalopathy c￭ te a neuro￭ degenerative disease with features of dementia dp may affect amateur or professional box￭ ers wrest￭ lers as well as athletes in other sports who suffer con￭ cus￭ sions dp is also called chronic box￭ er s encephalopathy traumatic box￭ er ’ s encephalopathy box￭ er s dementia chronic traumatic brain injury associated with boxing ct￭ bi b and punch drunk syndrome dp was historically considered equivalent to c￭ te but is now considered a subtype of c￭ te
binge drinking
binge drinking or heavy ep￭ is￭ od￭ ic drinking is a modern epi￭ the￭ t for drinking alcoholic beverages with an intention of becoming in￭ tox￭ ic￭ ated by heavy consumption of alcohol over a short period of time it is a style of drinking that is popular in several countries worldwide and overlaps somewhat with social drinking since it is often done in groups the degree of in￭ tox￭ ication however varies between and within various cultures that engage in this practice a binge on alcohol can occur over hours last up to several days or in the event of extended abuse even weeks due to the long term effects of alcohol misuse binge drinking is considered to be a major public health issue
alcohol in￭ tox￭ ication
alcohol in￭ tox￭ ication is a physiological state that may also include psychological alterations of consciousness induced by the ing￭ estion of ethanol ethyl alcohol commonly known as drinking alcohol or just alcohol or meth￭ an￭ ol methyl or wood alcohol though with possibly serious side effects from the latter
alcohol in￭ tox￭ ication is a physiological state that may also include psychological alterations of consciousness induced by the ing￭ estion of ethanol ethyl alcohol commonly known as drinking alcohol or just alcohol or meth￭ an￭ ol methyl or wood alcohol though with possibly serious side effects from the latter alcohol in￭ tox￭ ication is the result of alcohol entering the blood￭ stream faster than it can be met￭ abo￭ lized by the liver which breaks down the ethanol into non in￭ tox￭ ic￭ ating by￭ products some effects of alcohol in￭ tox￭ ication such as euphoria and lowered social inhi￭ bi￭ tions are central to alcohol s desirability as a bever￭ age and its history as one of the world s most widespread recreational drugs despite this widespread use and alcohol s legality in most countries many medical sources tend to describe any level of alcohol in￭ tox￭ ication as a form of poisoning due to ethanol s damaging effects on the body in large doses some religions such as some forms of islam or mor￭ mon￭ ism consider alcohol in￭ tox￭ ication to be a sin symptoms of alcohol in￭ tox￭ ication include euphoria flu￭ shed skin and decreased social inhi￭ bi￭ tion at lower doses with larger doses producing progressively severe impair￭ ments of balance muscle coordination at￭ ax￭ ia and decision making ability potentially leading to violent or erratic behavior as well as naus￭ ea or v￭ om￭ iting from alcohol s disruptive effect on the sem￭ ic￭ ir￭ cular can￭ als of the inner ear and chemical irritation of the ga￭ str￭ ic mu￭ co￭ sa sufficiently high levels of blood borne alcohol will cause coma and death from the depres￭ sive effects of alcohol upon the central nervous system
substance in￭ tox￭ ication
alcoholism
alcoholic re￭ directs here for alcoholic beverages see alcoholic bever￭ age for the song by star￭ sailor see alcoholic song alcoholism also known as alcohol use disorder aud is a broad term for any drinking of alcohol that results in problems it was previously divided into two types alcohol abuse and alcohol dependence in a medical context alcoholism is said to exist when two or more of the following conditions is present a person drinks large amounts over a long time period has difficulty cutting down acquiring and drinking alcohol takes up a great deal of time alcohol is strongly desired usage results in not fulfilling responsibilities usage results in social problems usage results in health problems usage results in risky situations withdrawal occurs when stopping
substance dependence
substance dependence also known as drug dependence is an adap￭ tive state that develops from repeated drug administration and which results in withdrawal upon cessation of drug use a drug addiction a distinct concept from substance dependence is defined as compul￭ sive out of control drug use despite negative consequences an addictive drug is a drug which is both rewarding and reinforcing δ￭ fo￭ sb a gene trans￭ cription factor is now known to be a critical component and common factor in the development of virtually all forms of behavioral addiction and drug addic￭ tions but not dependence
substance dependence also known as drug dependence is an adap￭ tive state that develops from repeated drug administration and which results in withdrawal upon cessation of drug use a drug addiction a distinct concept from substance dependence is defined as compul￭ sive out of control drug use despite negative consequences an addictive drug is a drug which is both rewarding and reinforcing δ￭ fo￭ sb a gene trans￭ cription factor is now known to be a critical component and common factor in the development of virtually all forms of behavioral addiction and drug addic￭ tions but not dependence within the framework of the 4 th edition of the diagnostic and statistical manual of mental disorders dsm iv substance dependence is redefined as a drug addiction and can be diagnosed without the occurrence of a withdrawal syndrome it is now described accordingly when an individual persists in use of alcohol or other drugs despite problems related to use of the substance substance dependence may be diagnosed compul￭ sive and repeti￭ tive use may result in tolerance to the effect of the drug and withdrawal symptoms when use is reduced or stopped this along with substance abuse are considered substance use disorders
drug withdrawal
drug withdrawal is the group of symptoms that occur upon the abrupt dis￭ continuation or decrease in intake of medications or recreational drugs in order to experience the symptoms of withdrawal one must have first developed a physical or mental dependence this happens after consuming one or more substances for a certain period of time which is both dose dependent and varies based upon the drug consumed for example prolonged use of an anti depres￭ sant is most likely to cause a much different reaction when discontinued than the repeated use of an op￭ io￭ id such as heroin withdrawal symptoms from op￭ iate abuse such as heroin morphine include anxiety swe￭ ating v￭ om￭ iting and diarr￭ hea alcohol abuse withdrawal symptoms include irrit￭ ability fatigue shaking swe￭ ating and naus￭ ea withdrawal
drug withdrawal is the group of symptoms that occur upon the abrupt dis￭ continuation or decrease in intake of medications or recreational drugs in order to experience the symptoms of withdrawal one must have first developed a physical or mental dependence this happens after consuming one or more substances for a certain period of time which is both dose dependent and varies based upon the drug consumed for example prolonged use of an anti depres￭ sant is most likely to cause a much different reaction when discontinued than the repeated use of an op￭ io￭ id such as heroin withdrawal symptoms from op￭ iate abuse such as heroin morphine include anxiety swe￭ ating v￭ om￭ iting and diarr￭ hea alcohol abuse withdrawal symptoms include irrit￭ ability fatigue shaking swe￭ ating and naus￭ ea withdrawal from nicotine brings on irrit￭ ability fatigue in￭ som￭ nia headache and difficulty concentrating symptoms and body response to the absence can vary from mild discomfort or to the return of previous underlying medical problems and their respective symptoms many legal and unrestricted chemicals and or substances available without prescriptions and over the counter can cause withdrawal effects when users stop consuming them even if taken as directed the route of administration whether intra￭ ven￭ ous intr￭ amus￭ cular oral or otherwise can also play a role in determining the severity of withdrawal symptoms there are different stages of withdrawal as well generally a person will start to feel bad crash or come down progress to feeling worse hit a pl￭ ate￭ au and then the symptoms begin to dissip￭ ate however withdrawal from certain drugs benzo￭ di￭ az￭ ep￭ ines alcohol glu￭ co￭ cor￭ ti￭ co￭ ids can be fatal while it is seldom fatal to the user withdrawal from op￭ i￭ ates and some other drugs can cause mis￭ carriage due to fe￭ tal withdrawal the term cold turkey is used to describe the sudden cessation use of a substance and the ensuing physi￭ o￭ logic manifestations the symptoms from withdrawal may be even more dramatic when the drug has masked prolonged malnutrition disease chronic pain infections common in intra￭ ven￭ ous drug use or sleep deprivation conditions that drug ab￭ users often suffer as a secondary consequence of the drug many drugs including alcohol suppress appetite while simultaneously consuming any money that might have been spent on food when the drug is removed the dis￭ comfor￭ ts return in force and are sometimes confused with addiction withdrawal symptoms
deli￭ ri￭ um trem￭ ens
deli￭ ri￭ um trem￭ ens d￭ ts is a rapid onset of confusion usually caused by withdrawal from alcohol when it occurs it is often three days into the withdrawal symptoms and lasts for two to three days people may also see or hear things other people do not physical effects may include shaking shi￭ vering irregular heart rate and swe￭ ating occasionally a very high body temperature or seizures may result in death alcohol is one of the most dangerous drugs to experience withdrawal from
deli￭ ri￭ um trem￭ ens d￭ ts is a rapid onset of confusion usually caused by withdrawal from alcohol when it occurs it is often three days into the withdrawal symptoms and lasts for two to three days people may also see or hear things other people do not physical effects may include shaking shi￭ vering irregular heart rate and swe￭ ating occasionally a very high body temperature or seizures may result in death alcohol is one of the most dangerous drugs to experience withdrawal from deli￭ ri￭ um trem￭ ens typically only occurs in people with a high intake of alcohol for more than a month a similar syndrome may occur with benzo￭ di￭ az￭ ep￭ ine and bar￭ bit￭ urate withdrawal withdrawal from stimul￭ ants such as cocaine does not have major medical complications in a person with deli￭ ri￭ um trem￭ ens it is important to rule out other associated problems such as electro￭ ly￭ te ab￭ norm￭ alities pan￭ cre￭ ati￭ tis and alcoholic hepatitis prevention is by treating withdrawal symptoms if deli￭ ri￭ um trem￭ ens occurs aggressive treatment improves outcomes treatment in a quiet intensive care unit with sufficient light is often recommended benzo￭ di￭ az￭ ep￭ ines are the medication of choice with di￭ az￭ ep￭ am lor￭ az￭ ep￭ am chlor￭ di￭ az￭ epo￭ x￭ ide and ox￭ az￭ ep￭ am all commonly used they should be given until a person is lightly sleeping the anti￭ psychotic hal￭ oper￭ ido￭ l may also be used the vitamin thi￭ amine is recommended mortality without treatment is between 15 and 40 currently death occurs in about 1 to 4 of cases about half of people with alcoholism will develop withdrawal symptoms upon reducing their use of these three to five percent develop d￭ ts or have seizures the name deli￭ ri￭ um trem￭ ens was first used in 18￭ 13 however the symptoms were well described since the 1700 s the word deli￭ ri￭ um is latin for going off the fur￭ row a p￭ lowing metaphor it is also called shaking frenzy and saunders su￭ tton syndrome include barrel fever blue horrors bott￭ le￭ ache bats drun￭ ken horrors elephants gallon dist￭ emp￭ er qu￭ art mania pink sp￭ id￭ ers among others
alcoholic halluc￭ in￭ osis
alcoholic halluc￭ in￭ osis or alcohol related psycho￭ sis or alcohol induced psychotic disorder is a complic￭ ation of alcohol withdrawal in alcohol￭ ics descriptions of the condition date back to at least 1907 they can occur during acute in￭ tox￭ ication or withdrawal with the potential of having deli￭ ri￭ um trem￭ ens alcohol halluc￭ in￭ osis is a rather un￭ common alcohol induced psychotic disorder only being seen in chronic alcohol￭ ics who have many consecutive years of severe and heavy drinking during their lifetime alcoholic halluc￭ in￭ osis develops about 12 to 24 hours after the heavy drinking stops suddenly and can last for days it involves aud￭ itory and visual halluc￭ inations most commonly accus￭ atory or threatening voices the risk of developing alcoholic halluc￭ in￭ osis is increased by long term heavy al￭ c
substance induced psycho￭ sis
substance induced psycho￭ sis commonly known as toxic psycho￭ sis is a form of substance use disorder where psycho￭ sis can be attributed to substance use it is a psycho￭ sis that results from the poisonous effects of chemicals or drugs including those produced by the body itself various psychoactive substances have been implicated in causing or worsening psycho￭ sis in users
kor￭ sak￭ off s syndrome
kor￭ sak￭ off s syndrome is a manifestation of wer￭ nic￭ ke s encephalopathy also called wer￭ nic￭ ke s disease it happens in wer￭ nic￭ ke s disease in almost all alcohol ab￭ users it is rare among the other patients but for example some cases have been observed after b￭ ari￭ atric sur￭ ger￭ ies when deficiency was not prevented by use of nutritional supplements this neuro￭ logical disorder is caused by a lack of thi￭ amine vitamin b 1 in the brain and is also often exacerbated by the neuro￭ toxic effects of alcohol when wer￭ nic￭ ke s encephalopathy accompanies kor￭ sak￭ off s syndrome the combination is called the wer￭ nic￭ ke – kor￭ sak￭ off syndrome kor￭ sak￭ off s is a continu￭ um of wer￭ nic￭ ke s encephalopathy or disease though a recognized episode of wer￭ nic￭ ke s is not always obvious the syndrome is named after sergei kor￭ sak￭ o
kor￭ sak￭ off s syndrome is a manifestation of wer￭ nic￭ ke s encephalopathy also called wer￭ nic￭ ke s disease it happens in wer￭ nic￭ ke s disease in almost all alcohol ab￭ users it is rare among the other patients but for example some cases have been observed after b￭ ari￭ atric sur￭ ger￭ ies when deficiency was not prevented by use of nutritional supplements this neuro￭ logical disorder is caused by a lack of thi￭ amine vitamin b 1 in the brain and is also often exacerbated by the neuro￭ toxic effects of alcohol when wer￭ nic￭ ke s encephalopathy accompanies kor￭ sak￭ off s syndrome the combination is called the wer￭ nic￭ ke – kor￭ sak￭ off syndrome kor￭ sak￭ off s is a continu￭ um of wer￭ nic￭ ke s encephalopathy or disease though a recognized episode of wer￭ nic￭ ke s is not always obvious the syndrome is named after sergei kor￭ sak￭ off a russian neuro￭ psychiatrist who discovered the syndrome during the late 19 th century
op￭ io￭ id use disorder
an op￭ io￭ id use disorder is a medical condition that is characterized by the compul￭ sive use of op￭ io￭ ids despite adverse consequences from continued use and the development of a withdrawal syndrome when op￭ io￭ id use stops it involves both an addiction to and dependence upon op￭ io￭ ids op￭ io￭ id use disorders resulted in 51 000 deaths worldwide in 2013 up from 18 000 deaths in 1990
benzo￭ di￭ az￭ ep￭ ine dependence
benzo￭ di￭ az￭ ep￭ ine dependence or benzo￭ di￭ az￭ ep￭ ine addiction is when one has developed one or more of either tolerance withdrawal symptoms drug seeking behaviors such as continued use despite harmful effects and mal￭ adap￭ tive pattern of substance use according to the dsm iv in the case of benzo￭ di￭ az￭ ep￭ ine dependence however the continued use seems to be associated with the avoidance of unpleasant withdrawal reaction rather than from the pleas￭ urable effects of the drug benzo￭ di￭ az￭ ep￭ ine dependence develops with long term use even at low therapeutic doses without the described dependence behavior
benzo￭ di￭ az￭ ep￭ ine dependence or benzo￭ di￭ az￭ ep￭ ine addiction is when one has developed one or more of either tolerance withdrawal symptoms drug seeking behaviors such as continued use despite harmful effects and mal￭ adap￭ tive pattern of substance use according to the dsm iv in the case of benzo￭ di￭ az￭ ep￭ ine dependence however the continued use seems to be associated with the avoidance of unpleasant withdrawal reaction rather than from the pleas￭ urable effects of the drug benzo￭ di￭ az￭ ep￭ ine dependence develops with long term use even at low therapeutic doses without the described dependence behavior addiction or what is sometimes referred to as psychological dependence includes people mis￭ using or cr￭ aving the drug not to relieve withdrawal symptoms but to experience its euph￭ or￭ ic or in￭ tox￭ ic￭ ating effects it is important to distinguish between addiction and drug abuse of benzo￭ di￭ az￭ ep￭ ines and normal physical dependence on benzo￭ di￭ az￭ ep￭ ines the increased gab￭ aa inhi￭ bi￭ tion caused by benzo￭ di￭ az￭ ep￭ ines is counter￭ acted by the body s development of tolerance to the drug s effects the development of tolerance occurs as a result of neuro￭ adaptations which result in decreased gab￭ a inhi￭ bi￭ tion and increased exc￭ itability of the glu￭ tam￭ ate system these adaptations occur as a result of the body trying to overcome the central nervous system depres￭ sant effects of the drug to restore home￭ ost￭ asis when benzo￭ di￭ az￭ ep￭ ines are stopped these neuro￭ adaptations are un￭ masked leading to hyper exc￭ itability of the nervous system and the appearance of withdrawal symptoms therapeutic dose dependence is the largest category of people dependent on benzo￭ di￭ az￭ ep￭ ines these individuals typically do not escalate their doses to high levels or abuse their medication smaller groups include patients escalating their do￭ sage to higher levels and drug mis￭ users as well it is unclear exactly how many people illic￭ itly abuse benzo￭ di￭ az￭ ep￭ ines tolerance develops within days or weeks to the anti￭ con￭ vul￭ sant hypno￭ tic muscle relax￭ ant and after 4 months there is little evidence that benzo￭ di￭ az￭ ep￭ ines retain their anxi￭ ol￭ y￭ tic properties some authors however disagree and feel that benzo￭ di￭ az￭ ep￭ ines retain their anxi￭ ol￭ y￭ tic properties long term benzo￭ di￭ az￭ ep￭ ine treatment may remain necessary in certain clinical conditions dependence and misuse of benzo￭ di￭ az￭ ep￭ ines have been of concern since 2002 based on findings in the us from the treatment episode data set te￭ ds an annual compilation of patient characteristics in substance abuse treatment facilities in the united states ad￭ missions due to primary tranqu￭ ili￭ zer including but not limited to benzo￭ di￭ az￭ ep￭ ine type drug use increased 79 from 1992 to 2002 thus the dawn and te￭ ds data sets demonstrate clearly that the misuse of these sed￭ ative hypno￭ tics is on the rise and cause for concern numbers of benzo￭ di￭ az￭ ep￭ ine prescriptions have been declining due primarily to concerns of dependence in the short term benzo￭ di￭ az￭ ep￭ ines can be effective drugs for acute anxiety or in￭ som￭ nia with longer term use other therapies both pharmaco￭ logical and psycho￭ therapeutic become more effective this is in part due to the greater effectiveness over time of other forms of therapy and also due to the eventual development of pharmaco￭ logical benzo￭ di￭ az￭ ep￭ ine tolerance
bro￭ mis￭ m
bro￭ mis￭ m is the syndrome which results from the long term consumption of bro￭ mine usually through bromide based sed￭ atives such as potassium bromide and lith￭ ium bromide bro￭ mis￭ m was once a very common disorder being responsible for 5 to 10 of psychiatric hospital ad￭ missions bro￭ mis￭ m is now an un￭ common disorder because bromide was withdrawn from clinical use in many countries and was severely restricted in others high levels of bromide chronically impair the memb￭ rane of neurons which progressively imp￭ airs neuro￭ nal transmission leading to toxicity known as bro￭ mis￭ m bromide has an elimination half life of 9 to 12 days which can lead to excessive accumulation doses of 0 5 to 1 gram per day of bromide can lead to bro￭ mis￭ m historically the therapeutic dose of bromide is about 3 to 5 grams
emergence deli￭ ri￭ um
emergence deli￭ ri￭ um sometimes referred to as ag￭ itated emergence emergence ag￭ itation emergence excitement or po￭ stan￭ esthetic excitement is a condition in which emergence from general an￭ esthesia is accompanied by psy￭ ch￭ om￭ o￭ tor ag￭ itation some see a relation to pav￭ or no￭ c￭ turn￭ us while other see a relation to the excitement stage of an￭ esthesia
caff￭ eine dependence
caff￭ eine s mechanism of action is somewhat different from that of cocaine and the substituted amp￭ he￭ tam￭ ines caff￭ eine blocks aden￭ os￭ ine recep￭ tors a and a 2 a aden￭ os￭ ine is a by product of cellular activity and stimulation of aden￭ os￭ ine recep￭ tors produces feelings of ti￭ red￭ ness and the need to sleep caff￭ eine s ability to block these recep￭ tors means the levels of the body s natural stimul￭ ants dop￭ amine and no￭ rep￭ in￭ eph￭ rine continue at higher levels
halluc￭ ino￭ gen persisting perception disorder
inhal￭ ant
inhal￭ ants are a broad range of in￭ tox￭ ic￭ ative drugs whose gases or volatile vap￭ ors are breath￭ ed in via the nose or mouth they are taken by room temperature volati￭ li￭ zation or from a pressur￭ ized container e g nit￭ rous oxide and do not include drugs that are sni￭ ffed after burning or heating for example am￭ yl nit￭ r￭ ite and t￭ olu￭ ene – the solvent used in contact cement and model airplane glue – are considered inhal￭ ants but tobacco cannabis and crack are not even though the latter are also inhal￭ ed as smoke
inhal￭ ants are a broad range of in￭ tox￭ ic￭ ative drugs whose gases or volatile vap￭ ors are breath￭ ed in via the nose or mouth they are taken by room temperature volati￭ li￭ zation or from a pressur￭ ized container e g nit￭ rous oxide and do not include drugs that are sni￭ ffed after burning or heating for example am￭ yl nit￭ r￭ ite and t￭ olu￭ ene – the solvent used in contact cement and model airplane glue – are considered inhal￭ ants but tobacco cannabis and crack are not even though the latter are also inhal￭ ed as smoke while some inhal￭ ant drugs are prescribed by medical professionals and used for medical purposes as in the case of nit￭ rous oxide a dental anxi￭ ol￭ y￭ tic and pain relief agent this article focuses on inhal￭ ant use of household and industrial chemicals in a manner not intended by the manufacturer to produce in￭ tox￭ ication or other psychoactive effects these products are used as recreational drugs for their in￭ tox￭ ic￭ ating effect according to a 1995 report by the national institute on drug abuse the most serious inhal￭ ant abuse occurs among homeless children and teens who live on the streets completely without family ties inhal￭ ant users inhal￭ e vap￭ or or aerosol propell￭ ant gases using plastic bags held over the mouth or by breathing from a solvent so￭ aked rag or an open container the practices are known col￭ lo￭ qu￭ ially as sni￭ ffing hu￭ ffing or bag￭ ging the effects of inhal￭ ants range from an alcohol like in￭ tox￭ ication and intense euphoria to vivid halluc￭ inations depending on the substance and the dose some inhal￭ ant users are injured due to the harmful effects of the solvents or gases or due to other chemicals used in the products that they are inhal￭ ing as with any recreational drug users can be injured due to dangerous behavior while they are in￭ tox￭ ic￭ ated such as driving under the influence in some cases users have died from hypo￭ x￭ ia lack of oxygen pneumonia cardiac failure or arrest or aspiration of v￭ omit brain damage is typically seen with chronic long term use as opposed to short term exposure even though many inhal￭ ants are legal there have been legal actions taken in some jurisdictions to limit access by minors while solvent glue is normally a legal product a scottish court has ruled that supplying glue to children is illegal if the store knows the children intend to abuse the glue in the us thirty eight of 50 states have enacted laws making various inhal￭ ants unavailable to those under the age of 18 or making inhal￭ ant use illegal
poly drug use
poly drug use refers to the use of two or more psychoactive drugs in combination to achieve a particular effect in many cases one drug is used as a base or primary drug with additional drugs to le￭ av￭ en or compensate for the side effects of the primary drug and make the experience more enjo￭ y￭ able with drug synergy effects or to supplement for primary drug when supply is low
schizophrenia
schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand what is real common symptoms include false beliefs unclear or confused thinking hearing voices reduced social engagement and emotional expression and a lack of motivation people with schizophrenia often have additional mental health problems such as anxiety disorders major depres￭ sive illness or substance use disorder symptoms typically come on gradually begin in young adul￭ thood and last a long time
schizophrenia is a mental disorder characterized by abnormal social behavior and failure to understand what is real common symptoms include false beliefs unclear or confused thinking hearing voices reduced social engagement and emotional expression and a lack of motivation people with schizophrenia often have additional mental health problems such as anxiety disorders major depres￭ sive illness or substance use disorder symptoms typically come on gradually begin in young adul￭ thood and last a long time the causes of schizophrenia include environmental and genetic factors possible environmental factors include being raised in a city cannabis use certain infections parental age and poor nutrition during pregnancy genetic factors include a variety of common and rare genetic variants diagnosis is based on observed behavior and the person s reported experiences during diagnosis a person s culture must also be taken into account as of 2013 there is no objective test schizophrenia does not imply a split personality or multiple personality disorder — conditions it is often confused with in public perception the main￭ stay of treatment is anti￭ psychotic medication along with counselling job training and social rehabilitation it is unclear if typical or atypical anti￭ psycho￭ tics are better in those who do not improve with other anti￭ psycho￭ tics clo￭ zap￭ ine may be used in more serious cases — where there is risk to self or others — involuntary hosp￭ itali￭ zation may be necessary although hospital stays are now shorter and less frequent than they once were about 0 3 – 0 7 of people are affected by schizophrenia during their lifetime in 2013 there was estimated to be 23 6 million cases globally males are more often affected than females about 20 of people do well and a few recover completely social problems such as long term unemployment poverty and hom￭ elessness are common the average life expectancy of people with the disorder is ten to twenty five years less than the average this is the result of increased physical health problems and a higher suicide rate about 5 in 2013 an estimated 16 000 people died from behavior related to or caused by schizophrenia
psycho￭ sis
psycho￭ sis refers to an abnormal condition of the mind described as involving a loss of contact with reality people with psycho￭ sis are described as psychotic people experiencing psycho￭ sis may exhibit some personality changes and thought disorder depending on its severity this may be accompanied by unusual or bizarre behavior as well as difficulty with social interaction and impairment in carrying out daily life activities
psycho￭ sis refers to an abnormal condition of the mind described as involving a loss of contact with reality people with psycho￭ sis are described as psychotic people experiencing psycho￭ sis may exhibit some personality changes and thought disorder depending on its severity this may be accompanied by unusual or bizarre behavior as well as difficulty with social interaction and impairment in carrying out daily life activities psycho￭ sis as a sign of a psychiatric disorder is a diagnosis of exclusion that is a new onset episode of psycho￭ sis is not considered a symptom of a psychiatric disorder until other relevant and known causes of psycho￭ sis are properly excluded medical and biological laboratory tests should exclude central nervous system diseases and injuries diseases and injuries of other organs psychoactive substances and toxins as causes of symptoms of psycho￭ sis before any psychiatric illness can be diagnosed in medical training psycho￭ sis as a sign of illness is often compared to fever since both can have multiple causes that are not readily apparent the term psycho￭ sis is very broad and can mean anything from relatively normal aberr￭ ant experiences through to the complex and cat￭ at￭ onic expressions of schizophrenia and bipolar type 1 disorder in properly diagnosed psychiatric disorders where other causes have been excluded by extensive medical and biological laboratory tests psycho￭ sis is a descriptive term for the halluc￭ inations delu￭ sions and impaired insight that may occur psycho￭ sis is generally the term given to noticeable deficits in normal behavior negative signs and more commonly to diverse types of halluc￭ inations or delu￭ sional beliefs particularly with regard to the relation between self and others as in grandi￭ osity and pro￭ no￭ ia or paranoia the first line treatment for many psychotic disorders is anti￭ psychotic medication me￭ ta analyses of these drugs show either no difference in effects or a moderate effect size suggesting that the mechanism of psycho￭ sis is more complex than an over￭ active dop￭ amine system
paranoia
dis￭ organized schizophrenia
dis￭ organized schizophrenia also known as he￭ be￭ ph￭ ren￭ ia is a subtype of schizophrenia although it is not recognized in the latest version of the diagnostic and statistical manual of mental disorders dis￭ organized schizophrenia is thought to be an extreme expression of the dis￭ organization syndrome that has been hypothe￭ sized to be one aspect of a three factor model of symptoms in schizophrenia the other factors being reality distortion involving delu￭ sions and halluc￭ inations and psy￭ ch￭ om￭ o￭ tor poverty lack of speech lack of spontaneous movement and various aspects of bl￭ unting of emotion
catal￭ ep￭ sy
schiz￭ o￭ typ￭ al personality disorder
schiz￭ o￭ typ￭ al personality disorder st￭ pd or schiz￭ o￭ typ￭ al disorder is a mental disorder characterized by severe social anxiety paranoia and often unconventional beliefs people with this disorder feel extreme discomfort with maintaining close relationships with people mainly because they think that their peers harbor negative thoughts towards them so they avoid forming them peculiar speech mann￭ er￭ isms and odd modes of dress are also symptoms of this disorder in some cases people with st￭ pd may react od￭ dly in conversations not respond or talk to themselves
schiz￭ o￭ typ￭ al personality disorder st￭ pd or schiz￭ o￭ typ￭ al disorder is a mental disorder characterized by severe social anxiety paranoia and often unconventional beliefs people with this disorder feel extreme discomfort with maintaining close relationships with people mainly because they think that their peers harbor negative thoughts towards them so they avoid forming them peculiar speech mann￭ er￭ isms and odd modes of dress are also symptoms of this disorder in some cases people with st￭ pd may react od￭ dly in conversations not respond or talk to themselves they frequently interpret situations as being strange or having unusual meaning for them par￭ an￭ orm￭ al and supersti￭ tious beliefs are common such people frequently seek medical attention for anxiety or depression instead of their personality disorder schiz￭ o￭ typ￭ al personality disorder occurs in approximately 3 of the general population and is slightly more common in males
delu￭ sional paras￭ it￭ osis
delu￭ sional paras￭ it￭ osis also known as delu￭ sional inf￭ est￭ ation or ek￭ bo￭ m s syndrome is a delu￭ sional disorder in which individuals incorrectly believe they are infested with parasites insects or bugs whereas in reality no such inf￭ est￭ ation is present individuals with delu￭ sional paras￭ it￭ osis usually report t￭ acti￭ le halluc￭ inations known as form￭ ication a sensation resembling insects crawling on or under the skin
co￭ t￭ ard delusion
co￭ t￭ ard delusion is a rare mental illness in which the affected person holds the delu￭ sional belief that he or she is already dead does not exist is put￭ ref￭ ying or has lost his or her blood or internal organs statistical analysis of a hundred patient cohor￭ t indicates that the denial of self existence is a symptom present in 69 of the cases of co￭ t￭ ard s syndrome yet paradoxically 55 of the patients present delu￭ sions of im￭ mortality
brief reactive psycho￭ sis
fo￭ lie à de￭ ux
fo￭ lie à de￭ ux f￭ ɒ￭ ˈ￭ li ə ˈ￭ du￭ ː french pron￭ unciation ​ f￭ ɔ￭ li a d￭ ø french for madness of two or shared psycho￭ sis is a psychiatric syndrome in which symptoms of a delu￭ sional belief and halluc￭ inations are transmitted from one individual to another the same syndrome shared by more than two people may be called fo￭ lie à tro￭ is fo￭ lie à qu￭ at￭ re fo￭ lie en fam￭ ille or even fo￭ lie à plu￭ si￭ eurs madness of many recent psychiatric classifications refer to the syndrome as shared psychotic disorder dsm iv 297 3 and induced delu￭ sional disorder f 24 in the ic￭ d 10 although the research literature largely uses the original name this disorder is not in the current dsm dsm v the disorder was first concep￭ tu￭ alized in 19 th century french psychiatry by charles las￭ è￭ gue and jean pierre fal￭ ret and so
fo￭ lie à de￭ ux f￭ ɒ￭ ˈ￭ li ə ˈ￭ du￭ ː french pron￭ unciation ​ f￭ ɔ￭ li a d￭ ø french for madness of two or shared psycho￭ sis is a psychiatric syndrome in which symptoms of a delu￭ sional belief and halluc￭ inations are transmitted from one individual to another the same syndrome shared by more than two people may be called fo￭ lie à tro￭ is fo￭ lie à qu￭ at￭ re fo￭ lie en fam￭ ille or even fo￭ lie à plu￭ si￭ eurs madness of many recent psychiatric classifications refer to the syndrome as shared psychotic disorder dsm iv 297 3 and induced delu￭ sional disorder f 24 in the ic￭ d 10 although the research literature largely uses the original name this disorder is not in the current dsm dsm v the disorder was first concep￭ tu￭ alized in 19 th century french psychiatry by charles las￭ è￭ gue and jean pierre fal￭ ret and so also known as las￭ è￭ gue fal￭ ret syndrome
schiz￭ o￭ aff￭ ective disorder
schiz￭ o￭ aff￭ ective disorder s￭ za sz￭ d or sad is a mental disorder characterized by abnormal thought processes and deregulated emotions the diagnosis is made when the patient has features of both schizophrenia and a mood disorder — either bipolar disorder or depression — but does not strictly meet diagnostic criteria for either alone the bipolar type is distinguished by symptoms of mania hypo￭ mania or mixed episode the depres￭ sive type by symptoms of depression only common symptoms of the disorder include halluc￭ inations paranoid delu￭ sions and dis￭ organized speech and thinking the onset of symptoms usually begins in young adul￭ thood currently with an uncertain lifetime prevalence because the disorder was redefined but dsm iv prevalence estimates were less than 1 percent of the population i
schiz￭ o￭ aff￭ ective disorder s￭ za sz￭ d or sad is a mental disorder characterized by abnormal thought processes and deregulated emotions the diagnosis is made when the patient has features of both schizophrenia and a mood disorder — either bipolar disorder or depression — but does not strictly meet diagnostic criteria for either alone the bipolar type is distinguished by symptoms of mania hypo￭ mania or mixed episode the depres￭ sive type by symptoms of depression only common symptoms of the disorder include halluc￭ inations paranoid delu￭ sions and dis￭ organized speech and thinking the onset of symptoms usually begins in young adul￭ thood currently with an uncertain lifetime prevalence because the disorder was redefined but dsm iv prevalence estimates were less than 1 percent of the population in the range of 0 5 to 0 8 percent diagnosis is based on observed behavior and the patient s reported experiences genetics neuro￭ biology early and current environment behavioral social and experi￭ ential components appear to be important contributory factors some recreational and prescription drugs may cause or worsen symptoms no single isolated organic cause has been found but extensive evidence exists for ab￭ norm￭ alities in the metabol￭ ism of te￭ tra￭ hydro￭ biop￭ ter￭ in bh 4 dop￭ amine and glu￭ tam￭ ic acid in people with schizophrenia psychotic mood disorders and schiz￭ o￭ aff￭ ective disorder people with schiz￭ o￭ aff￭ ective disorder are likely to have co occurring conditions including anxiety disorders and substance use disorder social problems such as long term unemployment poverty and hom￭ elessness are common the average life expectancy of people with the disorder is shorter than those without it due to increased physical health problems from an absence of health promoting behaviors including a sed￭ entary lifestyle and a higher suicide rate the main￭ stay of current treatment is anti￭ psychotic medication combined with mood stabili￭ zer medication or anti￭ depres￭ sant medication or both there is growing concern by some researchers that anti￭ depres￭ s￭ ants may increase psycho￭ sis mania and long term mood episode cycling in the disorder when there is risk to self or others usually early in treatment brief hosp￭ itali￭ zation may be necessary psychiatric rehabilitation psycho￭ therapy and vocational rehabilitation are very important for recovery of higher psycho￭ social function as a group people with schiz￭ o￭ aff￭ ective disorder diagnosed using dsm iv and ic￭ d 10 criteria have a better outcome than people with schizophrenia but have variable individual psycho￭ social functional outcomes compared to people with mood disorders from worse to the same outcomes for people with dsm 5 diagnosed schiz￭ o￭ aff￭ ective disorder depend on data from prospective cohor￭ t studies which haven t been completed yet in dsm 5 and ic￭ d 10 schiz￭ o￭ aff￭ ective disorder is in the same diagnostic class as schizophrenia but not in the same class as mood disorders the diagnosis was introduced in 1933 and its definition was slightly changed in the dsm 5 published in may 2013 because the dsm iv schiz￭ o￭ aff￭ ective disorder definition leads to excessive mis￭ diagnosis the changes made to the schiz￭ o￭ aff￭ ective disorder definition were intended to make the dsm 5 diagnosis more consistent or reliable and to substantially reduce the use of the diagnosis additionally the dsm 5 schiz￭ o￭ aff￭ ective disorder diagnosis can no longer be used for first episode psycho￭ sis
mood disorder
mood disorder is a group of diagnoses in the diagnostic and statistical manual of mental disorders dsm classification system where a disturbance in the person s mood is hypothe￭ sized to be the main underlying feature the classification is known as mood aff￭ ective disorders in international classification of diseases ic￭ d
mood disorder is a group of diagnoses in the diagnostic and statistical manual of mental disorders dsm classification system where a disturbance in the person s mood is hypothe￭ sized to be the main underlying feature the classification is known as mood aff￭ ective disorders in international classification of diseases ic￭ d english psychiatrist henry ma￭ ud￭ sley proposed an overarching category of aff￭ ective disorder the term was then replaced by mood disorder as the latter term refers to the underlying or longit￭ ud￭ inal emotional state whereas the former refers to the external expression observed by others mood disorders fall into the basic groups of elevated mood such as mania or hypo￭ mania depressed mood of which the best known and most researched is major depres￭ sive disorder m￭ dd commonly called clinical depression uni￭ polar depression or major depression and mo￭ ods which cycle between mania and depression known as bipolar disorder b￭ d formerly known as man￭ ic depression there are several sub types of depres￭ sive disorders or psychiatric syndro￭ mes featuring less severe symptoms such as dys￭ th￭ ym￭ ic disorder similar to but mil￭ der than m￭ dd and cyclo￭ th￭ ym￭ ic disorder similar to but mil￭ der than b￭ d mood disorders may also be substance induced or occur in response to a medical condition
hypo￭ mania
hypo￭ mania literally under mania or less than mania is a mood state characterized by persistent dis￭ inhi￭ bi￭ tion and pervasive elevated euph￭ or￭ ic with or without irrit￭ able mood but generally less severe than full mania characteristic behaviors are extremely energetic tal￭ k￭ ative and confident commonly exhi￭ bited with a flight of creative ideas while hypo￭ man￭ ic behavior often generates productivity and excitement it can become troublesome if the subject engages in risky or otherwise in￭ advisable behaviors when man￭ ic episodes are staged according to symptomatic severity and associated features hypo￭ mania constitutes the first stage or stage i of the syndrome where￭ in the cardinal features euphoria or heightened irrit￭ ability pressure of speech and activity increased energy and dec￭ re
bipolar disorder
bipolar disorder formerly man￭ ic depression is a mental disorder with periods of depression and periods of elevated mood the elevated mood is significant and is known as mania or hypo￭ mania depending on its severity or whether symptoms of psycho￭ sis are present during mania an individual behaves or feels abnormally energetic happy or irrit￭ able individuals often make poorly thought out decisions with little regard to the consequences the need for sleep is usually reduced during man￭ ic phases during periods of depression there may be crying a negative outlook on life and poor eye contact with others the risk of suicide among those with the illness is high at greater than 6 percent over 20 years while self harm occurs in 30 – 40 percent other mental health issues such as anxiety dis￭ o
major depres￭ sive disorder
major depres￭ sive disorder m￭ dd also known as simply depression is a mental disorder characterized by at least two weeks of low mood that is present across most situations it is often accompanied by low self esteem loss of interest in normally enjo￭ y￭ able activities low energy and pain without a clear cause people may also occasionally have false beliefs or see or hear things that others cannot some people have periods of depression separated by years in which they are normal while others nearly always have symptoms present major depres￭ sive disorder can negatively affects a person s family work or school life sleeping or eating habits and general health between 2 7 of adults with major depression die by suicide and up to 60 of people who die by suicide had depression or ano￭ th
major depres￭ sive disorder m￭ dd also known as simply depression is a mental disorder characterized by at least two weeks of low mood that is present across most situations it is often accompanied by low self esteem loss of interest in normally enjo￭ y￭ able activities low energy and pain without a clear cause people may also occasionally have false beliefs or see or hear things that others cannot some people have periods of depression separated by years in which they are normal while others nearly always have symptoms present major depres￭ sive disorder can negatively affects a person s family work or school life sleeping or eating habits and general health between 2 7 of adults with major depression die by suicide and up to 60 of people who die by suicide had depression or another mood disorder the cause is believed to be a combination of genetic environmental and psychological factors risk factors include a family history of the condition major life changes certain medications chronic health problems and substance abuse about 40 of the risk appears to be related to genetics the diagnosis of major depres￭ sive disorder is based on the person s reported experiences and a mental status examination there is no laboratory test for major depression testing however may be done to rule out physical conditions that can cause similar symptoms major depression should be differentiated from sadness which is a normal part of life and is less severe the united states preventive services task force us￭ p￭ st￭ f recommends screening for depression among those over the age 12 while a prior co￭ ch￭ rane review found insufficient evidence for screening typically people are treated with counselling and anti￭ depres￭ sant medication medication appears to be effective but the effect may only be significant in the most severely depressed it is unclear whether medications affect the risk of suicide types of counselling used include cognitive behavioral therapy c￭ bt and inter￭ personal therapy if other measures are not effective electro￭ con￭ vul￭ sive therapy ect may be tried hosp￭ itali￭ zation may be necessary in cases with a risk of harm to self and may occasionally occur against a person s wishes major depres￭ sive disorder affected approximately 253 million 3 6 of people in 2013 the percentage of people who are affected at one point in their life varies from 7 in japan to 21 in france lifetime rates are higher in the developed world 15 compared to the developing world 11 it causes the second most years lived with disability after low back pain the most common time of onset is in a person in their 20 s and 30 s females are affected about twice as often as males the american psychiatric association added major depres￭ sive disorder to the diagnostic and statistical manual of mental disorders dsm iii in 1980 it was a split of the previous depres￭ sive neuro￭ sis in the dsm ii which also encomp￭ assed the conditions now known as dys￭ thy￭ mia and adjustment disorder with depressed mood those currently or previously affected may be stigmati￭ zed
seasonal aff￭ ective disorder
seasonal aff￭ ective disorder sad also known as winter depression winter blues summer depression or seasonal depression is a mood disorder sub￭ set in which people who have normal mental health throughout most of the year experience depres￭ sive symptoms at the same time each year most commonly in the winter sad was formally described and named in 1984 by norman e ro￭ sen￭ th￭ al and colleagues at the national institute of mental health there are many treatments for classic winter based seasonal aff￭ ective disorder
seasonal aff￭ ective disorder sad also known as winter depression winter blues summer depression or seasonal depression is a mood disorder sub￭ set in which people who have normal mental health throughout most of the year experience depres￭ sive symptoms at the same time each year most commonly in the winter in the diagnostic and statistical manual of mental disorders dsm iv and dsm 5 its status was changed it is no longer classified as a unique mood disorder but is now a speci￭ fier called with seasonal pattern for recurrent major depres￭ sive disorder that occurs at a specific time of the year and fully re￭ mits otherwise although experts were initially skeptical this condition is now recognized as a common disorder sad s prevalence in the u s ranges from 1 4 in florida to 9 9 in alaska the u s national library of medicine notes that some people experience a serious mood change when the seasons change they may sleep too much have little energy and may also feel depressed though symptoms can be severe they usually clear up the condition in the summer can include heightened anxiety sad was formally described and named in 1984 by norman e ro￭ sen￭ th￭ al and colleagues at the national institute of mental health there are many treatments for classic winter based seasonal aff￭ ective disorder
cyclo￭ thy￭ mia
cyclo￭ thy￭ mia ˌ￭ sa￭ ɪ￭ k￭ lo￭ ʊ￭ ˈ￭ θ￭ a￭ ɪ￭ mi￭ ə also called cyclo￭ th￭ ym￭ ic disorder is a type of chronic mood disorder widely considered to be a more chronic but mil￭ der or sub￭ threshold form of bipolar disorder cyclo￭ thy￭ mia is characterized by numerous mood swings with periods of hypo￭ man￭ ic symptoms that do not meet criteria for a hypo￭ man￭ ic episode altern￭ ating with periods of mild or moderate symptoms of depression that do not meet criteria for a major depres￭ sive episode
cyclo￭ thy￭ mia ˌ￭ sa￭ ɪ￭ k￭ lo￭ ʊ￭ ˈ￭ θ￭ a￭ ɪ￭ mi￭ ə also called cyclo￭ th￭ ym￭ ic disorder is a type of chronic mood disorder widely considered to be a more chronic but mil￭ der or sub￭ threshold form of bipolar disorder cyclo￭ thy￭ mia is characterized by numerous mood swings with periods of hypo￭ man￭ ic symptoms that do not meet criteria for a hypo￭ man￭ ic episode altern￭ ating with periods of mild or moderate symptoms of depression that do not meet criteria for a major depres￭ sive episode an individual with cyclo￭ thy￭ mia may feel stable at a baseline level but experience a noticeable shift to an emotional high during sub￭ threshold hypo￭ man￭ ic episodes of el￭ ation or euphoria with symptoms similar to those of mania but less severe and often cycle to emotional lows with moderate depres￭ sive symptoms to meet the diagnostic criteria for cyclo￭ thy￭ mia a person must experience this altern￭ ating pattern of emotional high￭ s and lows for a period of at least two years with no more than two consecutive symptom free months for children and adolescents the duration must be at least one year while diagnosis of cyclo￭ thy￭ mia is becoming more common it is not as frequent as that of bipolar disorder diagnosis of cyclo￭ thy￭ mia entails the absence of any major depres￭ sive episode man￭ ic episode or mixed episode which would qualify the individual for diagnosis of other mood disorders when a major episode manifests after an initial diagnosis of cyclo￭ thy￭ mia the individual may qualify for a diagnosis of bipolar i or bipolar ii disorder although estimates vary greatly 15 – 50 of cases of cyclo￭ thy￭ mia later advance to the diagnostic criteria for bipolar i and or bipolar ii disorder with cyclo￭ th￭ ym￭ ic features although the emotional high￭ s and lows of cyclo￭ thy￭ mia are less extreme than those of bipolar disorder the symp￭ tom￭ at￭ ology longit￭ ud￭ inal course family history and treatment response of cyclo￭ thy￭ mia are consistent with bipolar spectrum lifetime prevalence of cyclo￭ th￭ ym￭ ic disorder is 0 4 – 1 frequency appears similar in men and women though women more often seek treatment people with cyclo￭ thy￭ mia during periodic hypo￭ mania euphoria tend to feel an inflated self worth self confidence and el￭ ation often with rapid speech racing thoughts not much need to sleep increased aggression and impul￭ sive behavior showing little regard for consequences of decisions — but may sometimes be somewhat fully or hyper productive for a period of several days at a time
dys￭ thy￭ mia
dys￭ thy￭ mia d￭ ɪ￭ s￭ ˈ￭ θ￭ a￭ ɪ￭ mi￭ ə dis thy me￭ e ə from ancient greek δ￭ υ￭ σ￭ θ￭ υ￭ μ￭ ία bad state of mind sometimes also called neuro￭ tic depression dys￭ th￭ ym￭ ic disorder or chronic depression is a mood disorder consisting of the same cognitive and physical problems as in depression with less severe but longer lasting symptoms the concept was coined by robert sp￭ it￭ zer as a replacement for the term depres￭ sive personality in the late 1970 s
dys￭ thy￭ mia d￭ ɪ￭ s￭ ˈ￭ θ￭ a￭ ɪ￭ mi￭ ə dis thy me￭ e ə from ancient greek δ￭ υ￭ σ￭ θ￭ υ￭ μ￭ ία bad state of mind sometimes also called neuro￭ tic depression dys￭ th￭ ym￭ ic disorder or chronic depression is a mood disorder consisting of the same cognitive and physical problems as in depression with less severe but longer lasting symptoms the concept was coined by robert sp￭ it￭ zer as a replacement for the term depres￭ sive personality in the late 1970 s according to the fourth edition of the diagnostic and statistical manual of mental disorders published in 1994 dsm iv dys￭ thy￭ mia is a serious state of chronic depression which persists for at least two years one year for children and adolescents dys￭ thy￭ mia is less acute and severe than major depres￭ sive disorder as dys￭ thy￭ mia is a chronic disorder sufferers may experience symptoms for many years before it is diagnosed if diagnosis occurs at all as a result they may believe that depression is a part of their character so they may not even discuss their symptoms with doctors family members or friends dys￭ thy￭ mia often co occurs with other mental disorders a double depression is the occurrence of episodes of major depression in addition to dys￭ thy￭ mia switching between periods of dys￭ th￭ ym￭ ic mo￭ ods and periods of hypo￭ man￭ ic mo￭ ods is indicative of cyclo￭ thy￭ mia which is a mild variant of bipolar disorder in the dsm 5 dys￭ thy￭ mia is replaced by persistent depres￭ sive disorder p￭ dd this new condition includes both chronic major depres￭ sive disorder and the previous dys￭ th￭ ym￭ ic disorder the reason for this change is that there was no evidence for meaningful differences between these two conditions
masked depression
anxiety disorder
anxiety disorders are a group of mental disorders characterized by feelings of anxiety and fear anxiety is a worry about future events and fear is a reaction to current events these feelings may cause physical symptoms such as a fast heart rate and shak￭ iness there are a number of anxiety disorders including generalized anxiety disorder specific pho￭ bia social anxiety disorder separation anxiety disorder ag￭ or￭ ap￭ ho￭ bia and panic disorder the disorder differs by what results in the symptoms people often have more than one anxiety disorder
ag￭ or￭ ap￭ ho￭ bia
ag￭ or￭ ap￭ ho￭ bia is an anxiety disorder characterized by symptoms of anxiety in situations where the person percei￭ ves the environment to be unsafe with no easy way to get away these situations can include open spaces public transit shopping m￭ alls or simply being outside the home being in these situations may result in a panic attack the symptoms occur nearly every time the situation is encountered and lasts for more than six months those affected will go to great lengths to avoid these situations in severe cases people may become unable to leave their homes
ag￭ or￭ ap￭ ho￭ bia is an anxiety disorder characterized by symptoms of anxiety in situations where the person percei￭ ves the environment to be unsafe with no easy way to get away these situations can include open spaces public transit shopping m￭ alls or simply being outside the home being in these situations may result in a panic attack the symptoms occur nearly every time the situation is encountered and lasts for more than six months those affected will go to great lengths to avoid these situations in severe cases people may become unable to leave their homes the cause of ag￭ or￭ ap￭ ho￭ bia is a combination of genetic and environmental factors the condition often runs in families and stressful events such as the death of a parent or being attacked may be a trigger in the dsm 5 ag￭ or￭ ap￭ ho￭ bia is classified as a pho￭ bia along with specific pho￭ bias and social pho￭ bia other conditions that can produce similar symptoms include separation anxiety post￭ traumatic stress disorder and major depres￭ sive disorder those affected are at higher risk of depression and substance use disorder without treatment it is un￭ common for ag￭ or￭ ap￭ ho￭ bia to resolve treatment is typically with a type of counselling called cognitive behavioral therapy c￭ bt c￭ bt results in resolution for about half of people ag￭ or￭ ap￭ ho￭ bia affects about 1 7 of adults women are affected about twice as often as men the condition often begins in early adul￭ thood and becomes less common in old age it is rare in children the term ag￭ or￭ ap￭ ho￭ bia is from greek ἀ￭ γ￭ ορά meaning a public square and φ￭ ο￭ β￭ ία pho￭ bia meaning fear
anthropo￭ pho￭ bia
social anxiety disorder
social anxiety disorder sad also known as social pho￭ bia is an anxiety disorder characterized by a significant amount of fear in one or more social situations causing considerable distress and impaired ability to function in at least some parts of daily life these fears can be triggered by perceived or actual scrutiny from others
acro￭ pho￭ bia
acro￭ pho￭ bia from the greek ἄ￭ κ￭ ρο￭ ν á￭ kr￭ on meaning peak summit edge and φ￭ ό￭ β￭ ος ph￭ ó￭ bos fear is an extreme or irrational fear or pho￭ bia of heights especially when one is not particularly high up it belongs to a category of specific pho￭ bias called space and motion discomfort that share both similar eti￭ ology and options for treatment acro￭ pho￭ bia sufferers can experience a panic attack in high places and become too ag￭ itated to get themselves down safely approximately two percent of the general population suffers from acro￭ pho￭ bia with twice as many women affected as men
pho￭ bia
panic disorder
panic disorder is an anxiety disorder characterized by recurrent unexpected panic attacks panic attacks are sudden periods of intense fear that may include pal￭ p￭ itations swe￭ ating shaking short￭ ness of breath num￭ b￭ ness or a feeling that something really bad is going to happen the maximum degree of symptoms occurs within minutes there may be ongoing worries about having further attacks and avoidance of places where attacks have occurred in the past
panic attack
panic attacks are sudden periods of intense fear that may include pal￭ p￭ itations swe￭ ating shaking short￭ ness of breath num￭ b￭ ness or a feeling that something really bad is going to happen the maximum degree of symptoms occurs within minutes there may be a fear of losing control or chest pain panic attacks themselves are not dangerous treatment of panic attacks should be directed at the underlying cause in those with frequent attacks counselling or medications may be used breathing training and muscle relaxation techniques may also help those affected are at a higher risk of suicide
panic attacks are sudden periods of intense fear that may include pal￭ p￭ itations swe￭ ating shaking short￭ ness of breath num￭ b￭ ness or a feeling that something really bad is going to happen the maximum degree of symptoms occurs within minutes there may be a fear of losing control or chest pain panic attacks themselves are not dangerous panic attacks can occur due to number of disorders including panic disorder social anxiety disorder post traumatic stress disorder drug use depression and medical problems they can either be trigger or occur unexpectedly risks factors include smoking and psychological stress diagnosis should involve ruling out other conditions that can produce similar symptoms including hyper￭ thyro￭ i￭ dis￭ m hyper￭ par￭ ath￭ yro￭ i￭ dis￭ m heart disease lung disease and drug use treatment of panic attacks should be directed at the underlying cause in those with frequent attacks counselling or medications may be used breathing training and muscle relaxation techniques may also help those affected are at a higher risk of suicide in europe about 3 of the population has a panic attack in a given year while in the united states they affect about 11 they are more common in females than males they often begin during pu￭ ber￭ ty or early adul￭ thood children and older people are less commonly affected
generalized anxiety disorder
generalized anxiety disorder g￭ ad is an anxiety disorder characterized by excessive uncontrollable and often irrational worry that is apprehen￭ sive expectation about events or activities this excessive worry often interferes with daily functioning as individuals with g￭ ad typically anticipate disaster and are overly concerned about everyday matters such as health issues money death family problems friendship problems inter￭ personal relationship problems or work difficulties individuals often exhibit a variety of physical symptoms including fatigue fi￭ dge￭ ting headaches naus￭ ea num￭ b￭ ness in hands and feet muscle tension muscle aches difficulty sw￭ allowing excessive stomach acid buil￭ dup stomach pain v￭ om￭ iting diarr￭ hea b￭ outs of breathing difficulty difficulty concentrating
obs￭ essive – compul￭ sive disorder
obs￭ essive – compul￭ sive disorder oc￭ d is a mental disorder where people feel the need to check things repeatedly perform certain rou￭ tines repeatedly called rit￭ uals or have certain thoughts repeatedly people are unable to control either the thoughts or the activities for more than a short period of time common activities include hand washing counting of things and checking to see if a door is locked some may have difficulty throwing things out these activities occur to such a degree that the person s daily life is negatively affected often they take up more than an hour a day most adults realize that the behaviors do not make sense the condition is associated with tics anxiety disorder and an increased risk of suicide
obs￭ essive – compul￭ sive disorder oc￭ d is a mental disorder where people feel the need to check things repeatedly perform certain rou￭ tines repeatedly called rit￭ uals or have certain thoughts repeatedly people are unable to control either the thoughts or the activities for more than a short period of time common activities include hand washing counting of things and checking to see if a door is locked some may have difficulty throwing things out these activities occur to such a degree that the person s daily life is negatively affected often they take up more than an hour a day most adults realize that the behaviors do not make sense the condition is associated with tics anxiety disorder and an increased risk of suicide the cause is unknown there appear to be some genetic components with both identical twins more often affected than both non identical twins risk factors include a history of child abuse or other stress inducing event some cases have been documented to occur following infections the diagnosis is based on the symptoms and requires ruling out other drug related or medical causes rating scales such as the yale – brown obs￭ essive compul￭ sive scale can be used to assess the severity other disorders with similar symptoms include anxiety disorder major depres￭ sive disorder eating disorders tic disorders and obs￭ essive – compul￭ sive personality disorder treatment involves counselling such as cognitive behavioral therapy c￭ bt and sometimes medication typically selective sero￭ ton￭ in re￭ uptake inhi￭ bit￭ ors ss￭ ris c￭ bt for oc￭ d involves increasing exposure to what causes the problems while not allowing the repeti￭ tive behavior to occur while clo￭ mi￭ pr￭ amine appears to work as well as ss￭ ris it has greater side effects atypical anti￭ psycho￭ tics may be useful when used in addition to an s￭ sri in treatment resistant cases but are also associated with an increased risk of side effects without treatment the condition often lasts decades obs￭ essive – compul￭ sive disorder affects about 2 3 of people at some point in their life rates during a given year are about 1 2 and it occurs worldwide it is unusual for symptoms to begin after the age of thirty five and half of people develop problems before twenty males and females are affected about equally in english the phrase obs￭ essive – compul￭ sive is often used in an informal manner unrelated to oc￭ d to describe someone who is excessively meticulous perfec￭ tion￭ istic absorbed or otherwise fix￭ ated
acute stress reaction
acute stress reaction also called acute stress disorder psychological shock mental shock or simply shock is a psychological condition arising in response to a terrifying or traumatic event or witnessing a traumatic event it should not be confused with the unrelated circul￭ atory condition of shock or the concept of shock value acute stress reaction may develop into pt￭ s￭ d
acute stress reaction also called acute stress disorder psychological shock mental shock or simply shock is a psychological condition arising in response to a terrifying or traumatic event or witnessing a traumatic event it should not be confused with the unrelated circul￭ atory condition of shock or the concept of shock value acute stress reaction may develop into pt￭ s￭ d acute stress response was first described by walter cannon in the 1920 s as a theory that animals react to threats with a general discharge of the sympathetic nervous system the response was later recognized as the first stage of a general adaptation syndrome that regulates stress responses among vertebr￭ ates and other organisms
post￭ traumatic stress disorder
post￭ traumatic stress disorder pt￭ s￭ d is a mental disorder that can develop after a person is exposed to a traumatic event such as sexual assault warfare traffic collis￭ ions or other threats on a person s life symptoms may include disturbing thoughts feelings or dreams related to the events mental or physical distress to trauma related cu￭ es attempts to avoid trauma related cu￭ es alterations in how a person thinks and feels and increased ar￭ ous￭ al these symptoms last for more than a month after the event young children are less likely to show distress but instead may express their memories through play those with pt￭ s￭ d are at a higher risk of suicide
post￭ traumatic stress disorder pt￭ s￭ d is a mental disorder that can develop after a person is exposed to a traumatic event such as sexual assault warfare traffic collis￭ ions or other threats on a person s life symptoms may include disturbing thoughts feelings or dreams related to the events mental or physical distress to trauma related cu￭ es attempts to avoid trauma related cu￭ es alterations in how a person thinks and feels and increased ar￭ ous￭ al these symptoms last for more than a month after the event young children are less likely to show distress but instead may express their memories through play those with pt￭ s￭ d are at a higher risk of suicide most people who have experienced a traumatic event will not develop pt￭ s￭ d people who experience inter￭ personal trauma for example rape or child abuse are more likely to develop pt￭ s￭ d as compared to people who experience non assault based trauma such as accidents and natural disasters about half of people develop pt￭ s￭ d following rape children are less likely than adults to develop pt￭ s￭ d after trauma especially if they are under ten years of age diagnosis is based on the presence of specific symptoms following a traumatic event prevention may be possible when therapy is targeted at those with early symptoms but is not effective when carried out among all people following trauma the main treatments for people with pt￭ s￭ d are counselling and medication a number of different types of therapy may be useful this may occur one on one or in a group anti￭ depres￭ s￭ ants of the selective sero￭ ton￭ in re￭ uptake inhi￭ bit￭ or type are the first line medications for pt￭ s￭ d and result in benefit in about half of people these benefits are less than those seen with therapy it is unclear if using medications and therapy together has greater benefit other medications do not have enough evidence to support their use and in the case of benzo￭ di￭ az￭ ep￭ ines may worsen outcomes in the united states about 3 5 of adults have pt￭ s￭ d in a given year and 9 of people develop it at some point in their life in much of the rest of the world rates during a given year are between 0 5 and 1 higher rates may occur in regions of armed conflict it is more common in women than men symptoms of trauma related mental disorders have been documented since at least the time of the ancient greeks during the world wars study increased and it was known under various terms including shell shock and combat neuro￭ sis the term post￭ traumatic stress disorder came into use in the 1970 s in large part due to the diagnoses of us military veterans of the vietnam war it was officially recognized by the american psychiatric association in 1980 in the third edition of the diagnostic and statistical manual of mental disorders dsm iii
adjustment disorder
an adjustment disorder ad — sometimes called exo￭ genous or reactive or situ￭ ational depression — occurs when an individual is unable to adjust to or cope with a particular stress or a major life event since people with this disorder normally have symptoms that depressed people do such as general loss of interest feelings of hopelessness and crying this disorder is sometimes known as situ￭ ational depression unlike major depression the disorder is caused by an outside stres￭ sor and generally resol￭ ves once the individual is able to adapt to the situation one hypothesis about ad is that it may represent a sub threshold clinical syndrome
conversion disorder
conversion disorder cd is a diagnostic category previously used in some psychiatric classification systems it is sometimes applied to patients who present with neuro￭ logical symptoms such as num￭ b￭ ness blindness paralysis or fits which are not consistent with a well established organic cause and which cause significant distress it is thought that these symptoms arise in response to stressful situations affecting a patient s mental health or an ongoing mental health condition such as depression conversion disorder was retained in dsm 5 but given the sub￭ title functional neuro￭ logical symptom disorder the new criteria cover the same range of symptoms but remove the requirements for a psychological stres￭ sor to be present and for fe￭ ign￭ ing to be dis￭ proved
conversion disorder cd is a diagnostic category previously used in some psychiatric classification systems it is sometimes applied to patients who present with neuro￭ logical symptoms such as num￭ b￭ ness blindness paralysis or fits which are not consistent with a well established organic cause and which cause significant distress it is thought that these symptoms arise in response to stressful situations affecting a patient s mental health or an ongoing mental health condition such as depression conversion disorder was retained in dsm 5 but given the sub￭ title functional neuro￭ logical symptom disorder the new criteria cover the same range of symptoms but remove the requirements for a psychological stres￭ sor to be present and for fe￭ ign￭ ing to be dis￭ proved the theory of conversion disorder stems from ancient egypt and was formerly known as hysteria the concept of conversion disorder came to prominence at the end of the 19 th century when the neuro￭ logists jean martin char￭ cot and sigmund fre￭ ud and psycho￭ logist pierre janet focused their studies on the subject before their studies people with hysteria were often believed to be mal￭ ing￭ ering the term conversion has its origins in fre￭ ud s doctrine that anxiety is converted into physical symptoms though previously thought to have vanished from the west in the 20 th century some research has suggested that conversion disorder is as common as ever ic￭ d 10 classi￭ fies conversion disorder as a dissoci￭ ative disorder while dsm iv classi￭ fies it as a som￭ ato￭ form disorder
dissoci￭ ative identity disorder
dissoci￭ ative identity disorder did previously known as multiple personality disorder mp￭ d is a mental disorder characterized by at least two distinct and relatively enduring identities or dissoci￭ ated personality states that altern￭ ately show in a person s behavior accompanied by memory impairment for important information not explained by ordinary for￭ get￭ fulness these symptoms are not accounted for by substance abuse seizures other medical conditions nor by imaginative play in children diagnosis is often difficult as there is considerable com￭ or￭ bi￭ dity with other mental disorders mal￭ ing￭ ering should be considered if there is possible financial or forensic gain as well as fac￭ ti￭ tious disorder if help seeking behavior is prominent
dissoci￭ ative identity disorder did previously known as multiple personality disorder mp￭ d is a mental disorder characterized by at least two distinct and relatively enduring identities or dissoci￭ ated personality states that altern￭ ately show in a person s behavior accompanied by memory impairment for important information not explained by ordinary for￭ get￭ fulness these symptoms are not accounted for by substance abuse seizures other medical conditions nor by imaginative play in children diagnosis is often difficult as there is considerable com￭ or￭ bi￭ dity with other mental disorders mal￭ ing￭ ering should be considered if there is possible financial or forensic gain as well as fac￭ ti￭ tious disorder if help seeking behavior is prominent did is one of the most controversial psychiatric disorders with no clear consensus on diagnostic criteria or treatment research on treatment efficacy has been concerned primarily with clinical approaches and case studies dissoci￭ ative symptoms range from common lapses in attention becoming distracted by something else and day￭ dreaming to pathological dissoci￭ ative disorders no systematic empir￭ ically supported definition of dissoci￭ ation exists it is not the same as schizophrenia although neither epidemiological surveys nor longit￭ ud￭ inal studies have been conducted it is generally believed that did rarely resol￭ ves spontaneously symptoms are said to vary over time in general the prog￭ no￭ sis is poor especially for those with com￭ or￭ bid disorders there are few systematic data on the prevalence of did the international society for the study of trauma and dissoci￭ ation states that the prevalence is between 1 and 3 in the general population and between 1 and 5 in in￭ patient groups in europe and north america did is diagnosed more frequently in north america than in the rest of the world and is diagnosed three to nine times more often in females than in males the prevalence of did diagnoses increased greatly in the latter half of the 20 th century along with the number of identities often referred to as al￭ ters claimed by patients increasing from an average of two or three to approximately 16 did is also controversial within the legal system where it has been used as a rarely successful form of the insan￭ ity defense the 1990 s showed a parallel increase in the number of court cases involving the diagnosis dissoci￭ ative disorders including did have been attributed to disruptions in memory caused by trauma and other forms of stress but research on this hypothesis has been characterized by poor methodology so far scientific studies usually focusing on memory have been few and the results have been in￭ conclusive an alternative hypothesis for the cause of did is as a by product of techniques employed by some therap￭ ists especially those using hypno￭ sis and disagreement between the two positions is characterized by intense debate did became a popular diagnosis in the 1970 s 80 s and 90 s but it is unclear if the actual rate of the disorder increased if it was more recognized by health care providers or if soci￭ oc￭ ul￭ tural factors caused an increase in therapy induced i￭ atro￭ genic presentations the unusual number of diagnoses after 1980 clu￭ stered around a small number of clin￭ icians and the sugg￭ esti￭ bility characteristic of those with did support the hypothesis that did is therapist induced the unusual clu￭ stering of diagnoses has also been explained as due to a lack of awareness and training among clin￭ icians to recognize cases of did
gan￭ ser syndrome
gan￭ ser syndrome is a rare dissoci￭ ative disorder previously classified as a fac￭ ti￭ tious disorder it is characterized by nonsensical or wrong answers to questions or doing things incorrectly other dissoci￭ ative symptoms such as fu￭ gue amnesia or conversion disorder often with visual pseu￭ do￭ halluc￭ inations and a decreased state of consciousness it is also sometimes called nonsense syndrome bal￭ der￭ dash syndrome syndrome of approximate answers pseu￭ do￭ dementia hysterical pseu￭ do￭ dementia or prison psycho￭ sis this last name prison psycho￭ sis is sometimes used because the syndrome occurs most frequently in prison inmates where it may represent an attempt to gain leniency from prison or court officials
som￭ atic symptom disorder
a som￭ atic symptom disorder formerly known as a som￭ ato￭ form disorder is a category of mental disorder included in a number of diagnostic schemes of mental illness including the diagnostic and statistical manual of mental disorders latest version dsm 5 used by most mental health professionals in the united states before dsm 5 this disorder was split into som￭ ati￭ zation disorder bri￭ quet s syndrome and un￭ differentiated som￭ ato￭ form disorder the diagnosis requires physical symptoms that suggest physical illness or injury – symptoms that cannot be explained fully by a general medical condition or by the direct effect of a substance and are not attributable to another mental disorder e g panic disorder
a som￭ atic symptom disorder formerly known as a som￭ ato￭ form disorder is a category of mental disorder included in a number of diagnostic schemes of mental illness including the diagnostic and statistical manual of mental disorders latest version dsm 5 used by most mental health professionals in the united states before dsm 5 this disorder was split into som￭ ati￭ zation disorder bri￭ quet s syndrome and un￭ differentiated som￭ ato￭ form disorder the diagnosis requires physical symptoms that suggest physical illness or injury – symptoms that cannot be explained fully by a general medical condition or by the direct effect of a substance and are not attributable to another mental disorder e g panic disorder in people who have been diagnosed with a som￭ atic symptom disorder medical test results are either normal or do not explain the person s symptoms and history and physical examination do not indicate the presence of a known medical condition that could cause them though it is important to note that the dsm 5 cau￭ tions that this alone is not sufficient for diagnosis the patient must also be excessively worried about their symptoms and this worry must be judged to be out of proportion to the severity of the physical complaints themselves a diagnosis of som￭ atic symptom disorder requires that the subject have recurring som￭ atic complaints for at least six months symptoms are sometimes similar to those of other illnesses and may last for years usually the symptoms begin appearing during adoles￭ cence and patients are diagnosed before the age of 30 years symptoms may occur across cultures and gender other common symptoms include anxiety and depression however since anxiety and depression are also very common in persons with confirmed medical illnesses it remains possible that such symptoms are a consequence of the physical impairment rather than a cause som￭ atic symptom disorders are not the result of conscious mal￭ ing￭ ering fabric￭ ating or exagger￭ ating symptoms for secondary motives or fac￭ ti￭ tious disorders deliberately producing fe￭ ign￭ ing or exagger￭ ating symptoms som￭ atic symptom disorder is difficult to diagnose and treat some advocates of the diagnosis believe this is because proper diagnosis and treatment requires psychiat￭ rists to work with neuro￭ logists on patients with this disorder
multiple chemical sensitivity
multiple chemical sensitivity mc￭ s or idi￭ opathic environmental intoler￭ ances ie￭ i is a chronic medical condition and syndrome characterized by symptoms that the affected person attributes to low level chemical exposures to commonly used chemicals commonly attributed substances include sc￭ ented products pesticides plastics synthetic fabrics smoke petroleum products and paint f￭ umes symptoms are subjective and vague symptoms are also non specific meaning that they are common symptoms such as fatigue or headaches that are present in hundreds of other illnesses commonly reported symptoms also include naus￭ ea di￭ zz￭ iness and infl￭ amm￭ ation of skin joints gastro￭ intest￭ inal tract and airways
multiple chemical sensitivity mc￭ s or idi￭ opathic environmental intoler￭ ances ie￭ i is a chronic medical condition and syndrome characterized by symptoms that the affected person attributes to low level chemical exposures to commonly used chemicals commonly attributed substances include sc￭ ented products pesticides plastics synthetic fabrics smoke petroleum products and paint f￭ umes symptoms are subjective and vague symptoms are also non specific meaning that they are common symptoms such as fatigue or headaches that are present in hundreds of other illnesses commonly reported symptoms also include naus￭ ea di￭ zz￭ iness and infl￭ amm￭ ation of skin joints gastro￭ intest￭ inal tract and airways although the symptoms themselves are real and can be disab￭ ling mc￭ s is not recognized as an organic chemical caused illness by the world health organization american medical association or any of several other professional medical organizations blinded clinical trials have shown mc￭ s patients react as often and as strongly to plac￭ e￭ bos as they do to chemical stimul￭ i the existence and severity of symptoms is related to perception that a chemical stimulus is present depression anxiety som￭ ato￭ form disorder and similar mental health conditions are commonly associated with reports of mc￭ s prior to the mid 1980 s when the term multiple chemical sensitivity was coined the syndrome went by such names as universal allergy 20 th century disease chemical hy￭ pers￭ ensi￭ tivity syndrome total allergy syndrome and cere￭ br￭ al allergy
body dys￭ morph￭ ic disorder
body dys￭ morph￭ ic disorder b￭ dd is a mental disorder characterized by an obs￭ essive preoccupation that some aspect of one s own appearance is severely flawed and warrants exceptional measures to hide or fix it in b￭ dd s delu￭ sional variant the flaw is imagined if the flaw is actual its importance is severely exaggerated either way one s thoughts about it are pervasive and intrusive occupying up to several hours a day the dsm 5 categ￭ oriz￭ es b￭ dd in the obs￭ essive – compul￭ sive spectrum and distinguishes it from an￭ ore￭ x￭ ia ner￭ vo￭ sa
hypo￭ ch￭ on￭ dri￭ asis
hypo￭ ch￭ on￭ dri￭ asis also known as hypo￭ ch￭ on￭ dri￭ a health anxiety or illness anxiety disorder refers to worry about having a serious illness this deb￭ il￭ itating condition is the result of an inaccurate perception of the condition of body or mind despite the absence of an actual medical condition an individual suffering from hypo￭ ch￭ on￭ dri￭ asis is known as a hypo￭ ch￭ on￭ dri￭ ac hypo￭ ch￭ on￭ dri￭ acs become unduly alarmed about any physical or psychological symptoms they detect no matter how minor the symptom may be and are convinced that they have or are about to be diagnosed with a serious illness
da costa s syndrome
da costa s syndrome which was col￭ lo￭ qu￭ ially known as soldier s heart is a syndrome with a set of symptoms that are similar to those of heart disease though a physical examination does not reveal any physiological ab￭ norm￭ alities in modern times da costa s syndrome is considered the manifestation of an anxiety disorder and treatment is primarily behavioral involving modifications to lifestyle and exercise
da costa s syndrome which was col￭ lo￭ qu￭ ially known as soldier s heart is a syndrome with a set of symptoms that are similar to those of heart disease though a physical examination does not reveal any physiological ab￭ norm￭ alities in modern times da costa s syndrome is considered the manifestation of an anxiety disorder and treatment is primarily behavioral involving modifications to lifestyle and exercise the condition was named after jacob mend￭ es da costa who investigated and described the disorder during the american civil war it is also vari￭ ously known as cardiac neuro￭ sis chronic asth￭ enia effort syndrome functional cardiovascular disease neuro￭ circul￭ atory asth￭ enia primary ne￭ ur￭ asth￭ enia sub￭ acute asth￭ enia and irrit￭ able heart
false pregnancy
false pregnancy phantom pregnancy or hysterical pregnancy — officially called pseu￭ do￭ cy￭ esis in humans and pseu￭ dop￭ reg￭ nancy in other mammals — is the appearance of clinical or sub￭ clinical signs and symptoms associated with pregnancy when the organism is not actually pregnant clin￭ ically false pregnancy is most common in veterinary medicine particularly in dogs and mice false pregnancy in humans is less common and may sometimes be purely psychological it is generally believed that false pregnancy is caused by changes in the endocrine system of the body leading to the secre￭ tion of hormones that cause physical changes similar to those during pregnancy some men experience the same illnesses as a woman would experience while pregnant when their partner is pregnant see cou￭ v￭ ade syndrome pos
false pregnancy phantom pregnancy or hysterical pregnancy — officially called pseu￭ do￭ cy￭ esis in humans and pseu￭ dop￭ reg￭ nancy in other mammals — is the appearance of clinical or sub￭ clinical signs and symptoms associated with pregnancy when the organism is not actually pregnant clin￭ ically false pregnancy is most common in veterinary medicine particularly in dogs and mice false pregnancy in humans is less common and may sometimes be purely psychological it is generally believed that false pregnancy is caused by changes in the endocrine system of the body leading to the secre￭ tion of hormones that cause physical changes similar to those during pregnancy some men experience the same illnesses as a woman would experience while pregnant when their partner is pregnant see cou￭ v￭ ade syndrome possibly caused by ph￭ er￭ om￭ ones that increase estro￭ gen pro￭ l￭ acti￭ n and cor￭ ti￭ sol levels
bru￭ x￭ ism
bru￭ x￭ ism is excessive teeth grinding or jaw cl￭ en￭ ching it is an oral par￭ af￭ unc￭ tional activity i e it is unrelated to normal function such as eating or talking bru￭ x￭ ism is a common problem reports of prevalence range from 8 – 31 in the general population several symptoms are commonly associated with bru￭ x￭ ism including hy￭ pers￭ ensi￭ tive teeth aching jaw muscles headaches tooth wear damage to dental restor￭ ations e g cro￭ wns and fill￭ ings and damage to teeth however it may cause minimal symptoms and therefore people may not be aware of the condition
bru￭ x￭ ism is excessive teeth grinding or jaw cl￭ en￭ ching it is an oral par￭ af￭ unc￭ tional activity i e it is unrelated to normal function such as eating or talking bru￭ x￭ ism is a common problem reports of prevalence range from 8 – 31 in the general population several symptoms are commonly associated with bru￭ x￭ ism including hy￭ pers￭ ensi￭ tive teeth aching jaw muscles headaches tooth wear damage to dental restor￭ ations e g cro￭ wns and fill￭ ings and damage to teeth however it may cause minimal symptoms and therefore people may not be aware of the condition there are two main types of bru￭ x￭ ism that which occurs during sleep sleep bru￭ x￭ ism and that which occurs during wa￭ ke￭ fulness awake bru￭ x￭ ism dental damage may be similar in both types but the symptoms of sleep bru￭ x￭ ism tend to be worse on waking and improve during the course of the day and the symptoms of awake bru￭ x￭ ism may not be present at all on waking and then worsen over the day the causes of bru￭ x￭ ism are not completely understood but probably involve multiple factors awake bru￭ x￭ ism is thought to have different causes from sleep bru￭ x￭ ism and is more common in females whereas males and females are affected in equal proportions by sleep bru￭ x￭ ism several treatments are in use although there is little evidence of robust efficacy for any particular treatment
ne￭ ur￭ asth￭ enia
ne￭ ur￭ asth￭ enia is a term that was first used at least as early as 1829 to label a mechanical weakness of the actual nerves rather than the more met￭ aphor￭ ical nerves referred to by george miller beard later as a psychop￭ ath￭ ological term ne￭ ur￭ asth￭ enia was used by beard in 18￭ 69 to den￭ ote a condition with symptoms of fatigue anxiety headache heart pal￭ p￭ itations high blood pressure ne￭ ur￭ al￭ gia and depressed mood
psy￭ chas￭ th￭ enia
d￭ hat syndrome
d￭ hat syndrome san￭ sk￭ r￭ it ध￭ ा￭ त￭ ु द￭ ो￭ ष iast d￭ h￭ ā￭ tu do￭ ṣ￭ a is a condition found in the cultures of the indian sub￭ continent in which male patients report that they suffer from premature e￭ jac￭ ulation or impotence and believe that they are passing semen in their urine the condition has no known organic eti￭ ology this is based on an old hindu belief that it takes forty drops of blood to create a drop of bone marrow and forty drops of bone marrow to create a drop of sperm
d￭ hat syndrome san￭ sk￭ r￭ it ध￭ ा￭ त￭ ु द￭ ो￭ ष iast d￭ h￭ ā￭ tu do￭ ṣ￭ a is a condition found in the cultures of the indian sub￭ continent in which male patients report that they suffer from premature e￭ jac￭ ulation or impotence and believe that they are passing semen in their urine the condition has no known organic eti￭ ology in traditional hindu spirit￭ uality semen is described as a vital fluid the discharge of this vital fluid either through sex or ma￭ st￭ urb￭ ation is associated with marked feelings of anxiety and dy￭ sp￭ h￭ oria often the patient describes the loss of a whi￭ tish fluid while passing urine at other times marked feelings of guilt associated with what the patient assumes is excessive ma￭ st￭ urb￭ ation are noted this is based on an old hindu belief that it takes forty drops of blood to create a drop of bone marrow and forty drops of bone marrow to create a drop of sperm many doctors view d￭ hat as a folk diagnostic term used in india to refer to anxiety and hypo￭ ch￭ on￭ dri￭ ac￭ al concerns associated with the discharge of semen with dis￭ color￭ ation of the urine and feelings of weakness and exhaustion d￭ hat is thought to be a culture bound syndrome similar to j￭ ir￭ yan south east asia pr￭ ame￭ ha sri lanka and sh￭ en k u￭ ei china d￭ hat syndrome might be related to other post org￭ as￭ mic diseases such as post co￭ ital tr￭ ist￭ esse pc￭ t post￭ org￭ as￭ mic illness syndrome po￭ is and sexual headache
writer s cr￭ amp
writer s cr￭ amp also called mo￭ gi￭ grap￭ hia and scri￭ ven￭ er s pal￭ sy is a disorder caused by cram￭ ps or sp￭ as￭ ms of certain muscles of the hand and or fore￭ arm and presents itself while performing fine motor tasks such as writing or playing an instrument writer s cr￭ amp is a task specific focal dy￭ st￭ onia of the hand focal refers to the symptoms being limited to one location the hand in this case and task specific means that symptoms first occur only when the individual engages in a particular activity writer s cr￭ amp first affects an individual by interfering with their ability to write especially for prolonged periods of time
eating disorder
eating disorders are mental disorders defined by abnormal eating habits that negatively affect a person s physical or mental health they include binge eating disorder where people eat a large amount in a short period of time an￭ ore￭ x￭ ia ner￭ vo￭ sa where people eat very little and thus have a low body weight bu￭ li￭ mia ner￭ vo￭ sa where people eat a lot and then try to rid themselves of the food pic￭ a where people eat non food items rumin￭ ation disorder where people reg￭ urg￭ itate food avoid￭ ant restrictive food intake disorder where people have a lack of interest in food and a group of other specified feeding or eating disorders anxiety disorders depression and substance abuse are common among people with eating disorders these disorders do not include obesity
an￭ ore￭ x￭ ia ner￭ vo￭ sa
an￭ ore￭ x￭ ia ner￭ vo￭ sa often referred to simply as an￭ ore￭ x￭ ia is an eating disorder characterized by a low weight fear of gaining weight a strong desire to be thin and food restriction many people with an￭ ore￭ x￭ ia see themselves as overweight even though they are in fact under￭ weight if asked they usually deny they have a problem with low weight often they weigh themselves frequently eat only small amounts and only eat certain foods some will exercise excessively force themselves to v￭ omit or use lax￭ atives to produce weight loss complications may include o￭ ste￭ op￭ or￭ osis in￭ fertility and heart damage among others women will often stop having men￭ str￭ ual periods
an￭ ore￭ x￭ ia ner￭ vo￭ sa often referred to simply as an￭ ore￭ x￭ ia is an eating disorder characterized by a low weight fear of gaining weight a strong desire to be thin and food restriction many people with an￭ ore￭ x￭ ia see themselves as overweight even though they are in fact under￭ weight if asked they usually deny they have a problem with low weight often they weigh themselves frequently eat only small amounts and only eat certain foods some will exercise excessively force themselves to v￭ omit or use lax￭ atives to produce weight loss complications may include o￭ ste￭ op￭ or￭ osis in￭ fertility and heart damage among others women will often stop having men￭ str￭ ual periods the cause is not known there appear to be some genetic components with identical twins more often affected than non identical twins cultural factors also appear to play a role with societies that value thin￭ ness having higher rates of disease additionally it occurs more commonly among those involved in activities that value thin￭ ness such as high level athle￭ tics modelling and dancing an￭ ore￭ x￭ ia often begins following a major life change or stress inducing event the diagnosis requires a significantly low weight the severity of disease is based on body mass index b￭ mi in adults with mild disease having a b￭ mi of greater than 17 moderate a b￭ mi of 16 to 17 severe a b￭ mi of 15 to 16 and extreme a b￭ mi less than 15 in children a b￭ mi for age per￭ centi￭ le of less than the 5 th per￭ centi￭ le is often used treatment of an￭ ore￭ x￭ ia involves restoring a healthy weight treating the underlying psychological problems and addressing behaviors that promote the problem while medications do not help with weight gain they may be used to help with associated anxiety or depression a number of types of therapy may be useful including an approach where parents assume responsibility for feeding their child known as ma￭ ud￭ sley family therapy and cognitive behavioral therapy sometimes people require admission to hospital to restore weight evidence for benefit from nas￭ o￭ ga￭ str￭ ic tube feeding however is unclear some people will just have a single episode and recover while others may have many episodes over years many complications improve or resolve with regaining of weight globally an￭ ore￭ x￭ ia is estimated to affect two million people as of 2013 it is estimated to occur in 0 9 to 4 3 of women and 0 2 to 0 3 of men in western countries at some point in their life about 0 4 of young females are affected in a given year and it is estimated to occur ten times less commonly in males rates in most of the developing world are unclear often it begins during the teen years or young adul￭ thood while an￭ ore￭ x￭ ia became more commonly diagnosed during the 20 th century it is unclear if this was due to an increase in its frequency or simply better diagnosis in 2013 it directly resulted in about 600 deaths globally up from 400 deaths in 1990 eating disorders also increase a person s risk of death from a wide range of other causes including suicide about 5 of people with an￭ ore￭ x￭ ia die from complications over a ten year period the term an￭ ore￭ x￭ ia ner￭ vo￭ sa was first used in 18￭ 73 by william gul￭ l to describe this condition an￭ ore￭ x￭ ia ner￭ vo￭ sa has the highest mortality rate of any psychiatric disorder with an s￭ mr of 5 86
bu￭ li￭ mia ner￭ vo￭ sa
bu￭ li￭ mia ner￭ vo￭ sa also known as simply bu￭ li￭ mia is an eating disorder characterized by binge eating followed by pur￭ ging binge eating refers to eating a large amount of food in a short amount of time pur￭ ging refers to the attempts to get rid of the food consumed this may be done by v￭ om￭ iting or taking lax￭ atives other efforts to lose weight may include the use of di￭ u￭ re￭ tics stimul￭ ants water fast￭ ing or excessive exercise most people with bu￭ li￭ mia are at a normal weight the forcing of v￭ om￭ iting may result in thick￭ ened skin on the knuc￭ kles and breakdown of the teeth bu￭ li￭ mia is frequently associated with other mental disorders such as depression anxiety and problems with drugs or alcohol there is also a higher risk of suicide and self harm
binge eating disorder
binge eating disorder bed is characterized by binge eating without subsequent pur￭ ging episodes the disorder was first described in 1959 by psychiatrist and researcher albert stun￭ k￭ ard as night eating syndrome nes the term binge eating was coined to describe the same b￭ inging type eating behavior but without the exclusive no￭ c￭ tur￭ nal component bed is present in 0 8 of male u s adults and 1 6 of female u s adults in a given year
binge eating disorder bed is characterized by binge eating without subsequent pur￭ ging episodes the disorder was first described in 1959 by psychiatrist and researcher albert stun￭ k￭ ard as night eating syndrome nes the term binge eating was coined to describe the same b￭ inging type eating behavior but without the exclusive no￭ c￭ tur￭ nal component binge eating is one of the most prevalent eating disorders among adults though there tends to be less media coverage and research about the disorder in comparison to an￭ ore￭ x￭ ia ner￭ vo￭ sa and bu￭ li￭ mia ner￭ vo￭ sa previously considered a topic for further research exploration binge eating disorder was included in the eating disorders section of the dsm 5 in 2013 bed is present in 0 8 of male u s adults and 1 6 of female u s adults in a given year
clinical v￭ amp￭ ir￭ ism
clinical v￭ amp￭ ir￭ ism more commonly called ren￭ field s syndrome or ren￭ field syndrome is an obsession with drinking blood the earliest formal presentation of clinical v￭ amp￭ ir￭ ism to appear in the psychiatric literature with the psycho￭ analy￭ tic interpretation of two cases was contributed by richard l van￭ den ber￭ gh and john f kel￭ ley in 1964 as the authors point out brief and spor￭ adic reports of blood drinking behaviors associated with sexual pleasure have appeared in the psychiatric literature at least since 18￭ 92 with the work of austrian forensic psychiatrist richard von kra￭ ff￭ t e￭ bing many medical publications concerning clinical v￭ amp￭ ir￭ ism can be found in the literature of forensic psychiatry with the unusual behavior reported as one of many aspects of extraordinary violent crimes the be￭ h
pic￭ a disorder
pic￭ a is characterized by an appetite for substances that are largely non nutri￭ tive such as ice pag￭ op￭ ha￭ gia hair tric￭ hop￭ ha￭ gia paper pap￭ yro￭ p￭ ha￭ gia dr￭ y￭ wall or paint metal metall￭ op￭ ha￭ gia stones lith￭ op￭ ha￭ gia or earth ge￭ op￭ ha￭ gia glass hy￭ al￭ op￭ ha￭ gia or f￭ ec￭ es co￭ prop￭ ha￭ gia and chal￭ k according to dsm iv diagnostic and statistical manual of mental disorders 4 th edition criteria for these actions to be considered pic￭ a they must persist for more than one month at an age where eating such objects is considered develop￭ mentally inappropriate not part of culturally sanctioned practice and sufficiently severe to warrant clinical attention it can lead to in￭ tox￭ ication in children which can result in an impairment in both physical and mental development in addition it can also lead
eating disorder not otherwise specified
eating disorder not otherwise specified ed￭ nos is an eating disorder that does not meet the criteria for an￭ ore￭ x￭ ia ner￭ vo￭ sa bu￭ li￭ mia ner￭ vo￭ sa or binge eating individuals with ed￭ nos usually fall into one of three groups sub threshold symptoms of an￭ ore￭ x￭ ia or bu￭ li￭ mia mixed features of both disorders or extremely atypical eating behaviors that are not characterized by either of the other established disorders people with ed￭ nos have similar symptoms and behaviors to those with an￭ ore￭ x￭ ia and bu￭ li￭ mia and can face the same dangerous risks
eating disorder not otherwise specified ed￭ nos is an eating disorder that does not meet the criteria for an￭ ore￭ x￭ ia ner￭ vo￭ sa bu￭ li￭ mia ner￭ vo￭ sa or binge eating individuals with ed￭ nos usually fall into one of three groups sub threshold symptoms of an￭ ore￭ x￭ ia or bu￭ li￭ mia mixed features of both disorders or extremely atypical eating behaviors that are not characterized by either of the other established disorders people with ed￭ nos have similar symptoms and behaviors to those with an￭ ore￭ x￭ ia and bu￭ li￭ mia and can face the same dangerous risks ed￭ nos is the most prevalent eating disorder about 60 of adults treated for eating disorders are diagnosed with ed￭ nos ed￭ nos occurs in all g￭ enders
sleep disorder
a sleep disorder or som￭ nip￭ athy is a medical disorder of the sleep patterns of a person or animal some sleep disorders are serious enough to interfere with normal physical mental social and emotional functioning poly￭ som￭ no￭ graphy and acti￭ graphy are tests commonly ordered for some sleep disorders disruptions in sleep can be caused by a variety of issues from teeth grinding bru￭ x￭ ism to night terr￭ ors when a person suffers from difficulty falling asleep and or staying asleep with no obvious cause it is referred to as in￭ som￭ nia
a sleep disorder or som￭ nip￭ athy is a medical disorder of the sleep patterns of a person or animal some sleep disorders are serious enough to interfere with normal physical mental social and emotional functioning poly￭ som￭ no￭ graphy and acti￭ graphy are tests commonly ordered for some sleep disorders disruptions in sleep can be caused by a variety of issues from teeth grinding bru￭ x￭ ism to night terr￭ ors when a person suffers from difficulty falling asleep and or staying asleep with no obvious cause it is referred to as in￭ som￭ nia sleep disorders are broadly classified into dys￭ som￭ ni￭ as paras￭ omni￭ as cir￭ c￭ adi￭ an rhythm sleep disorders involving the timing of sleep and other disorders including ones caused by medical or psychological conditions and sleeping sickness some common sleep disorders include sleep ap￭ ne￭ a stops in breathing during sleep narco￭ le￭ psy and hyper￭ som￭ nia excessive sleep￭ iness at inappropriate times cat￭ ap￭ l￭ ex￭ y sudden and transi￭ ent loss of muscle tone while awake and sleeping sickness disruption of sleep cycle due to infection other disorders include sleep￭ walking night terr￭ ors and bed we￭ tting management of sleep disturbances that are secondary to mental medical or substance abuse disorders should focus on the underlying conditions
international classification of sleep disorders
the international classification of sleep disorders ic￭ s￭ d is a primary diagnostic epidemiological and coding resource for clin￭ icians and researchers in the field of sleep and sleep medicine the international classification of sleep disorders ic￭ s￭ d was produced by the american academy of sleep medicine a￭ asm in association with the european sleep research society the japanese society of sleep research and the latin american sleep society the classification was developed as a revision and update of the diagnostic classification of sleep and ar￭ ous￭ al disorders d￭ c￭ sad that was produced by both the association of sleep disorders centers as￭ dc and the association for the psychop￭ hy￭ si￭ ological study of sleep and was published in the journal sleep in 1979 a second edition called ic￭ s￭ d 2
sleep￭ walking
sleep￭ walking also known as som￭ nam￭ bul￭ ism or no￭ c￭ tam￭ bul￭ ism is a phenomenon of combined sleep and wa￭ ke￭ fulness it is classified as a sleep disorder belonging to the paras￭ om￭ nia family sleep￭ walking occurs during slow wave sleep stage in a state of low consciousness and perform activities that are usually performed during a state of full consciousness these activities can be as benign as sitting up in bed walking to a bathroom and cleaning or as hazardous as cooking driving violent gestures grabbing at halluc￭ inated objects or even homicide
sleep￭ walking also known as som￭ nam￭ bul￭ ism or no￭ c￭ tam￭ bul￭ ism is a phenomenon of combined sleep and wa￭ ke￭ fulness it is classified as a sleep disorder belonging to the paras￭ om￭ nia family sleep￭ walking occurs during slow wave sleep stage in a state of low consciousness and perform activities that are usually performed during a state of full consciousness these activities can be as benign as sitting up in bed walking to a bathroom and cleaning or as hazardous as cooking driving violent gestures grabbing at halluc￭ inated objects or even homicide although sleep￭ walking cases generally consist of simple repeated behavi￭ ours there are occasionally reports of people performing complex behavi￭ ours while asleep although their legitimacy is often disputed sleep￭ wal￭ kers often have little or no memory of the incident as their consciousness has altered into a state in which it is harder to recall memories although their eyes are open their expression is dim and gla￭ zed over sleep￭ walking may last as little as 30 seconds or as long as 30 minutes sleep￭ walking occurs during slow wave sleep n 3 of non rapid eye movement sleep n￭ rem sleep cycles sleep￭ walking typically occurs within the first third of the night when slow wave sleep is most prominent usually if sleep￭ walking occurs at all it will only occur once in a night
paras￭ om￭ nia
night terror
night terror also known as sleep terror is a sleep disorder causing feelings of terror or dre￭ ad and typically occurs during the first hours of stage 3 4 non rapid eye movement n￭ rem sleep night terr￭ ors tend to happen during periods of ar￭ ous￭ al from delta sleep also known as slow wave sleep during the first half of a sleep cycle delta sleep occurs most often which indicates that people with more delta sleep activity are more prone to night terr￭ ors however they can also occur during day￭ time n￭ aps
nightmare
a nightmare also called a bad dream is an unpleasant dream that can cause a strong emotional response from the mind typically fear but also despair anxiety and great sadness the dream may contain situations of discomfort psychological or physical terror sufferers often awaken in a state of distress and may be unable to return to sleep for a small period recurrent nightmares may require medical help as they can interfere with sleeping patterns and cause in￭ som￭ nia
sexual dysfunction
sexual dysfunction or sexual mal￭ function or sexual disorder is difficulty experienced by an individual or a couple during any stage of a normal sexual activity including physical pleasure desire preference ar￭ ous￭ al or org￭ asm according to the dsm 5 sexual dysfunction requires a person to feel extreme distress and inter￭ personal strain for a minimum of 6 months excluding substance or medication induced sexual dysfunction sexual dys￭ functions can have a profound impact on an individual s perceived quality of sexual life the term sexual disorder may not only refer to physical sexual dysfunction but to par￭ ap￭ hi￭ li￭ as as well this is sometimes termed disorder of sexual preference
sexual dysfunction or sexual mal￭ function or sexual disorder is difficulty experienced by an individual or a couple during any stage of a normal sexual activity including physical pleasure desire preference ar￭ ous￭ al or org￭ asm according to the dsm 5 sexual dysfunction requires a person to feel extreme distress and inter￭ personal strain for a minimum of 6 months excluding substance or medication induced sexual dysfunction sexual dys￭ functions can have a profound impact on an individual s perceived quality of sexual life the term sexual disorder may not only refer to physical sexual dysfunction but to par￭ ap￭ hi￭ li￭ as as well this is sometimes termed disorder of sexual preference a thorough sexual history and assessment of general health and other sexual problems if any are very important assessing performance anxiety guilt stress and worry are integral to the optimal management of sexual dysfunction many of the sexual dys￭ functions that are defined are based on the human sexual response cycle proposed by william h masters and virginia e johnson and then modified by helen singer kap￭ lan
er￭ ec￭ tile dysfunction
er￭ ec￭ tile dysfunction ed or impotence is sexual dysfunction characterized by the inability to develop or maintain an er￭ ection of the penis during sexual activity in humans a pen￭ ile er￭ ection is the hydraulic effect of blood entering and being retained in spon￭ ge like bodies within the penis the process is most often initiated as a result of sexual ar￭ ous￭ al when signals are transmitted from the brain to nerves in the penis the most important organic causes of impotence are cardiovascular disease and diabetes neuro￭ logical problems for example trauma from pro￭ stat￭ ec￭ tomy surgery hormonal in￭ suffici￭ encies hypo￭ gon￭ ad￭ ism and drug side effects
premature e￭ jac￭ ulation
premature e￭ jac￭ ulation pe occurs when a man experiences org￭ asm and exp￭ els semen soon after sexual activity and with minimal pen￭ ile stimulation it has also been called early e￭ jac￭ ulation rapid e￭ jac￭ ulation rapid climax premature climax and historically e￭ jac￭ ul￭ ati￭ o pra￭ eco￭ x there is no uniform cut off defining premature but a consensus of experts at the international society for sexual medicine endorsed a definition including e￭ jac￭ ulation which always or nearly always occurs prior to or within about one minute the international classification of diseases ic￭ d 10 applies a cut off of 15 seconds from the beginning of sexual inter￭ course
vag￭ in￭ is￭ mus
vag￭ in￭ is￭ mus sometimes called vag￭ in￭ ism and gen￭ ito pel￭ vic pain disorder is a condition that affects a woman s ability to engage in vag￭ inal penetration including sexual inter￭ course manual penetration insertion of tamp￭ ons or men￭ str￭ ual cups and the penetration involved in gy￭ ne￭ co￭ logical examinations p￭ ap tests this is the result of an involuntary vag￭ inal muscle sp￭ asm which makes any kind of vag￭ inal penetration painful or impossible while there is a lack of evidence to definitively identify which muscle is responsible for the sp￭ asm the pu￭ bo￭ coc￭ cy￭ g￭ eus muscle sometimes referred to as the pc muscle is most often suggested other muscles such as the lev￭ ator ani bul￭ bo￭ ca￭ ver￭ no￭ sus circum￭ vag￭ inal and peri￭ vag￭ inal muscles have also been suggested
vag￭ in￭ is￭ mus sometimes called vag￭ in￭ ism and gen￭ ito pel￭ vic pain disorder is a condition that affects a woman s ability to engage in vag￭ inal penetration including sexual inter￭ course manual penetration insertion of tamp￭ ons or men￭ str￭ ual cups and the penetration involved in gy￭ ne￭ co￭ logical examinations p￭ ap tests this is the result of an involuntary vag￭ inal muscle sp￭ asm which makes any kind of vag￭ inal penetration painful or impossible while there is a lack of evidence to definitively identify which muscle is responsible for the sp￭ asm the pu￭ bo￭ coc￭ cy￭ g￭ eus muscle sometimes referred to as the pc muscle is most often suggested other muscles such as the lev￭ ator ani bul￭ bo￭ ca￭ ver￭ no￭ sus circum￭ vag￭ inal and peri￭ vag￭ inal muscles have also been suggested a woman with vag￭ in￭ is￭ mus does not consciously control the sp￭ asm the vag￭ in￭ is￭ mic reflex can be compared to the response of the eye shutting when an object comes towards it the severity of vag￭ in￭ is￭ mus as well as the pain during penetration including sexual penetration varies from woman to woman
dy￭ sp￭ are￭ un￭ ia
dy￭ sp￭ are￭ un￭ ia is painful sexual inter￭ course due to medical or psychological causes the pain can primarily be on the external surface of the gen￭ italia or deeper in the pel￭ vis upon deep pressure against the cer￭ vi￭ x it can affect a small portion of the vul￭ va or vag￭ ina or be felt all over the surface understanding the duration location and nature of the pain is important in identifying the causes of the pain globally dy￭ sp￭ are￭ un￭ ia has been estimated to affect between 8 21 of women at some point in their lives
dy￭ sp￭ are￭ un￭ ia is painful sexual inter￭ course due to medical or psychological causes the pain can primarily be on the external surface of the gen￭ italia or deeper in the pel￭ vis upon deep pressure against the cer￭ vi￭ x it can affect a small portion of the vul￭ va or vag￭ ina or be felt all over the surface understanding the duration location and nature of the pain is important in identifying the causes of the pain there are numerous physical psychological and social relationship causes that can contribute to pain during sexual encounters commonly multiple underlying causes contribute to the pain the pain can be acquired or con￭ genital symptoms of dy￭ sp￭ are￭ un￭ ia may also occur after men￭ op￭ ause diagnosis is typically by physical examination and a medical history treatment is determined by the underlying causes many women experience relief when physical causes are identified and treated even when the pain can be reproduced during a physical examination the possible role of psychological factors in either causing or maintaining the pain must be acknowledged and dealt with in treatment globally dy￭ sp￭ are￭ un￭ ia has been estimated to affect between 8 21 of women at some point in their lives
post￭ par￭ tum depression
post￭ par￭ tum depression pp￭ d also called post￭ natal depression is a type of clinical depression which can affect both sexes after childbirth symptoms may include sadness low energy changes in sleeping and eating patterns reduced desire for sex crying episodes anxiety and irrit￭ ability while many women experience self limited mild symptoms post￭ par￭ tum post￭ par￭ tum depression should be suspected when symptoms are severe and have lasted over two weeks
post￭ par￭ tum depression pp￭ d also called post￭ natal depression is a type of clinical depression which can affect both sexes after childbirth symptoms may include sadness low energy changes in sleeping and eating patterns reduced desire for sex crying episodes anxiety and irrit￭ ability while many women experience self limited mild symptoms post￭ par￭ tum post￭ par￭ tum depression should be suspected when symptoms are severe and have lasted over two weeks although a number of risk factors have been identified the causes of pp￭ d are not well understood hormonal change is hypothe￭ sized to contribute as one cause of post￭ par￭ tum depression the emotional effects of post￭ par￭ tum depression can include sleep deprivation anxiety about paren￭ thood and caring for an infant identity crisis a feeling of loss of control over life and anxiety due to lack of support from a romantic or sexual partner many women recover with treatment such as a support group counsel￭ ing or medication about 0 5 to 61 of women will experience depression after delivery post￭ par￭ tum psycho￭ sis occurs in about 1 – 2 per thousand women following childbirth among men in particular new fathers the incidence of post￭ par￭ tum depression has been estimated to be between 1 and 25 5 in the united states post￭ par￭ tum depression is one of the leading causes of the murder of children less than one year of age which occurs in about 8 per 100 000 births
personality disorder
personality disorders are a class of mental disorders characterized by enduring mal￭ adap￭ tive patterns of behavior cogn￭ ition and inner experience exhi￭ bited across many contexts and devi￭ ating markedly from those accepted by the individual s culture these patterns develop early are inflexible and are associated with significant distress or disability the definitions may vary somewhat according to source
personality disorders are a class of mental disorders characterized by enduring mal￭ adap￭ tive patterns of behavior cogn￭ ition and inner experience exhi￭ bited across many contexts and devi￭ ating markedly from those accepted by the individual s culture these patterns develop early are inflexible and are associated with significant distress or disability the definitions may vary somewhat according to source official criteria for diagno￭ sing personality disorders are listed in the diagnostic and statistical manual of mental disorders dsm and in the mental and behavioral disorders section of the international statistical classification of diseases and related health problems ic￭ d published by the world health organization who the dsm 5 lists personality disorders in the same way as other mental disorders rather than on a separate axis as previously personality defined psychologically is the set of enduring behavioral and mental traits that distinguish between individual humans hence personality disorders are defined by experiences and behaviors that differ from societal norms and expectations those diagnosed with a personality disorder may experience difficulties in cogn￭ ition emo￭ tiveness inter￭ personal functioning or impulse control in general personality disorders are diagnosed in 40 – 60 of psychiatric patients making them the most frequent of psychiatric diagnosis personality disorders are characterized by an enduring collection of behavioral patterns often associated with considerable personal social and occupational disruption personality disorders are also inflexible and pervasive across many situations largely due to the fact that such behavior may be ego syn￭ tonic i e the patterns are consistent with the ego integrity of the individual and are therefore perceived to be appropriate for that individual this behavior can result in mal￭ adap￭ tive coping skills which may lead to personal problems that induce extreme anxiety distress or depression these patterns of behavior typically are recognized in adoles￭ cence and the beginning of adul￭ thood and in some unusual instances childhood many issues occur with classifying a personality disorder there are many categories of definition some mild and some extreme because the theory and diagnosis of personality disorders occur within prevailing cultural expectations their validity is contested by some experts on the basis of inevitable subjec￭ tivity they argue that the theory and diagnosis of personality disorders are based strictly on social or even socio￭ political and economic considerations
paranoid personality disorder
paranoid personality disorder pp￭ d is a mental disorder characterized by paranoia and a pervasive long standing suspic￭ i￭ ousness and generalized mistrust of others individuals with this personality disorder may be hy￭ pers￭ ensi￭ tive easily insulted and habitually relate to the world by vigilant scanning of the environment for clues or suggestions that may validate their fears or bi￭ ases paranoid individuals are eager observers they think they are in danger and look for signs and threats of that danger potentially not appreciating other evidence
paranoid personality disorder pp￭ d is a mental disorder characterized by paranoia and a pervasive long standing suspic￭ i￭ ousness and generalized mistrust of others individuals with this personality disorder may be hy￭ pers￭ ensi￭ tive easily insulted and habitually relate to the world by vigilant scanning of the environment for clues or suggestions that may validate their fears or bi￭ ases paranoid individuals are eager observers they think they are in danger and look for signs and threats of that danger potentially not appreciating other evidence they tend to be guarded and suspicious and have quite con￭ stric￭ ted emotional lives their reduced capacity for meaningful emotional involvement and the general pattern of isolated withdrawal often lend a quality of schiz￭ o￭ id isolation to their life experience people with pp￭ d may have a tendency to bear gru￭ dges suspic￭ i￭ ousness tendency to interpret others actions as hostile persistent tendency to self reference or a ten￭ acious sense of personal right patients with this disorder can also have significant com￭ or￭ bi￭ dity with other personality disorders
schiz￭ o￭ id personality disorder
schiz￭ o￭ id personality disorder spd is a personality disorder characterized by a lack of interest in social relationships a tendency towards a solitary or sheltered lifestyle secre￭ tiveness emotional col￭ dness and apathy affected individuals may simultaneously demonstrate a rich elaborate and exclusively internal fantasy world
schiz￭ o￭ id personality disorder spd is a personality disorder characterized by a lack of interest in social relationships a tendency towards a solitary or sheltered lifestyle secre￭ tiveness emotional col￭ dness and apathy affected individuals may simultaneously demonstrate a rich elaborate and exclusively internal fantasy world spd is not to be confused with schizophrenia schiz￭ o￭ typ￭ al personality disorder or anti￭ social personality disorder there are however links and evidence of shared genetic risk between spd and other cluster a personality disorders and schizophrenia and spd is thought to be part of the schizophren￭ ic spectrum of disorders
anti￭ social personality disorder
anti￭ social personality disorder asp￭ d also known as dis￭ social personality disorder dp￭ d and soci￭ opathy is a personality disorder characterized by a pervasive pattern of disregard for or violation of the rights of others an impoverished moral sense or conscience is often apparent as well as a history of crime legal problems or impul￭ sive and aggressive behavior
anti￭ social personality disorder asp￭ d also known as dis￭ social personality disorder dp￭ d and soci￭ opathy is a personality disorder characterized by a pervasive pattern of disregard for or violation of the rights of others an impoverished moral sense or conscience is often apparent as well as a history of crime legal problems or impul￭ sive and aggressive behavior anti￭ social personality disorder is the name of the disorder as defined in the diagnostic and statistical manual of mental disorders dsm dis￭ social personality disorder dp￭ d is the name of a similar or equivalent concept defined in the international statistical classification of diseases and related health problems ic￭ d where it states that the diagnosis includes anti￭ social personality disorder both manu￭ als have similar but not identical criteria for diagno￭ sing the disorder both have also stated that their diagnoses have been referred to or include what is referred to as psychop￭ athy or soci￭ opathy but distinctions have been made between the concep￭ tu￭ alizations of anti￭ social personality disorder and psychop￭ athy with many researchers arguing that psychop￭ athy is a disorder that overlaps with but is distingu￭ ishable from asp￭ d
psychop￭ athy
psychop￭ athy sa￭ ɪ￭ ˈ￭ k￭ ɒ￭ p￭ ə￭ θ￭ i soci￭ opathy so￭ ʊ￭ si￭ ˈ￭ ɒ￭ p￭ ə￭ θ￭ i is traditionally defined as a personality disorder characterized by persistent anti￭ social behavior impaired emp￭ athy and re￭ morse and bold dis￭ inhi￭ bited e￭ goti￭ s￭ tical traits different conceptions of psychop￭ athy have been used throughout history that are only partly overlapping and sometimes appear contradictory
borderline personality disorder
borderline personality disorder b￭ pd also known as emotionally unstable personality disorder is a long term pattern of abnormal behavior characterized by unstable relationships with other people unstable sense of self and unstable emotions there is often an extreme fear of abandonment frequent dangerous behavior a feeling of emp￭ tin￭ ess and self harm symptoms may be brought on by seemingly normal events the behavior typically begins by early adul￭ thood and occurs across a variety of situations substance abuse depression and eating disorders are commonly associated with b￭ pd about 10 of those with b￭ pd die by suicide
his￭ tri￭ onic personality disorder
his￭ tri￭ onic personality disorder h￭ pd is defined by the american psychiatric association as a personality disorder characterized by a pattern of excessive attention seeking emotions usually beginning in early adul￭ thood including in￭ appropriately seduc￭ tive behavior and an excessive need for approval his￭ tri￭ onic people are lively dramatic vi￭ vac￭ ious enthusiastic and fli￭ rt￭ ati￭ ous h￭ pd affects four times as many women as men it has a prevalence of 2 – 3 in the general population and 10 – 15 in in￭ patient and out￭ patient mental health institutions
obs￭ essive – compul￭ sive personality disorder
obs￭ essive – compul￭ sive personality disorder oc￭ pd is a personality disorder characterized by a general pattern of concern with ord￭ er￭ liness perfec￭ tion￭ ism excessive attention to details mental and inter￭ personal control and a need for control over one s environment at the expense of flexibility openness to experience and efficiency work￭ a￭ hol￭ ism and miser￭ liness are also seen often in those with this personality disorder rit￭ uals are performed to the point of excluding leisure activities and friend￭ ships persons affected with this disorder may find it hard to relax always feeling that time is running out for their activities and that more effort is needed to achieve their goals they may plan their activities down to the minute — a manifestation of the compul￭ sive tendency to keep control
obs￭ essive – compul￭ sive personality disorder oc￭ pd is a personality disorder characterized by a general pattern of concern with ord￭ er￭ liness perfec￭ tion￭ ism excessive attention to details mental and inter￭ personal control and a need for control over one s environment at the expense of flexibility openness to experience and efficiency work￭ a￭ hol￭ ism and miser￭ liness are also seen often in those with this personality disorder rit￭ uals are performed to the point of excluding leisure activities and friend￭ ships persons affected with this disorder may find it hard to relax always feeling that time is running out for their activities and that more effort is needed to achieve their goals they may plan their activities down to the minute — a manifestation of the compul￭ sive tendency to keep control over their environment and to dislike unpredictable things as things they cannot control the cause of oc￭ pd is unknown this is a distinct disorder from obs￭ essive – compul￭ sive disorder oc￭ d and the relation between the two is contentious some but not all studies have found high com￭ or￭ bi￭ dity rates between the two disorders and both may share outside similarities – rigid and ritual like behaviors for example ho￭ ar￭ ding ord￭ er￭ liness and a need for sym￭ metry and organization are often seen in people with either disorder attitudes toward these behaviors differ between people affected with either of the disorders for people with oc￭ d these behaviors are unwanted and seen as unhealthy being the product of anxiety inducing and involuntary thoughts while for people with oc￭ pd they are ego￭ syn￭ tonic that is they are perceived by the subject as rational and desirable being the result of for example a strong adherence to rou￭ tines a natural inclination towards cau￭ ti￭ ousness or a desire to achieve perfection oc￭ pd occurs in about 2 – 8 of the general population and 8 – 9 of psychiatric out￭ patients the disorder more often occurs in men
avoid￭ ant personality disorder
avoid￭ ant personality disorder av￭ pd also known as anxious personality disorder is a cluster c personality disorder those affected display a pattern of social inhi￭ bi￭ tion feelings of inadequacy and infer￭ iority extreme sensitivity to negative evaluation and avoidance of social interaction despite a strong desire to be close to others individuals with the disorder tend to describe themselves as uneasy anxious lonely unwanted and isolated from others the behavior typically begins by early adul￭ thood and occurs across a variety of situations
dependent personality disorder
dependent personality disorder dp￭ d formerly known as asth￭ en￭ ic personality disorder is a personality disorder that is characterized by a pervasive psychological dependence on other people this personality disorder is a long term condition in which people depend on others to meet their emotional and physical needs with only a minority achieving normal levels of independence
dependent personality disorder dp￭ d formerly known as asth￭ en￭ ic personality disorder is a personality disorder that is characterized by a pervasive psychological dependence on other people this personality disorder is a long term condition in which people depend on others to meet their emotional and physical needs with only a minority achieving normal levels of independence the cause of dependent personality disorder is unknown ta study in 2012 estimated that between 55 and 72 of the risk of the condition is inherited from one s parents the difference between a dependent personality and a dependent personality disorder is somewhat subjective which makes diagnosis sensitive to cultural influences such as gender role expectations
nar￭ cis￭ sis￭ tic personality disorder
nar￭ cis￭ sis￭ tic personality disorder n￭ pd is a long term pattern of abnormal behavior characterized by exaggerated feelings of self importance an excessive need for admiration and a lack of understanding of others feelings people affected by it often spend a lot of time thinking about achieving power or success or about their appearance they often take advantage of the people around them the behavior typically begins by early adul￭ thood and occurs across a variety of situations
nar￭ cis￭ sis￭ tic personality disorder n￭ pd is a long term pattern of abnormal behavior characterized by exaggerated feelings of self importance an excessive need for admiration and a lack of understanding of others feelings people affected by it often spend a lot of time thinking about achieving power or success or about their appearance they often take advantage of the people around them the behavior typically begins by early adul￭ thood and occurs across a variety of situations the cause of nar￭ cis￭ sis￭ tic personality disorder is unknown it is a personality disorder classified within cluster b by the diagnostic and statistical manual of mental disorders diagnosis is by a healthcare professional inter￭ viewing the person in question the condition needs to be differentiated from mania and substance use disorder treatments have not been well studied therapy is often difficult as people frequently do not consider themselves to have a problem the personality was first described in 19￭ 25 by robert wa￭ elder while the current name for the condition came into use in 1968 about one percent of people are believed to be affected at some point in their life it appears to occur more often in males than females and affects young people more than older people
passive aggressive behavior
passive aggressive behavior is the indirect expression of hostility such as through procrast￭ ination stubbor￭ n￭ ness sul￭ len behavior or deliberate or repeated failure to accomplish requested tasks for which one is often explicitly responsible for research purposes the diagnostic and statistical manual of mental disorders dsm revision iv describes passive aggressive personality disorder as a pervasive pattern of neg￭ ati￭ vis￭ tic attitudes and passive resistance to demands for adequate performance in social and occupational situations
passive aggressive behavior is the indirect expression of hostility such as through procrast￭ ination stubbor￭ n￭ ness sul￭ len behavior or deliberate or repeated failure to accomplish requested tasks for which one is often explicitly responsible for research purposes the diagnostic and statistical manual of mental disorders dsm revision iv describes passive aggressive personality disorder as a pervasive pattern of neg￭ ati￭ vis￭ tic attitudes and passive resistance to demands for adequate performance in social and occupational situations passive aggressive behaviour often utilis￭ es malicious compliance that is ve￭ iling one s intent to not do something in performing the specific task in such a way that an unwanted result is caused
impulse control disorder
impulse control disorder ic￭ d is a class of psychiatric disorders characterized by impul￭ sivity – failure to resist a temptation urge or impulse that may harm oneself or others many psychiatric disorders feature impul￭ sivity including substance related disorders attention deficit hyper￭ activity disorder anti￭ social personality disorder borderline personality disorder conduct disorder and mood disorders five behavi￭ our￭ al stages characterize impul￭ sivity an impulse growing tension pleasure on acting relief from the urge and finally guilt which may or may not arise
impulse control disorder ic￭ d is a class of psychiatric disorders characterized by impul￭ sivity – failure to resist a temptation urge or impulse that may harm oneself or others many psychiatric disorders feature impul￭ sivity including substance related disorders attention deficit hyper￭ activity disorder anti￭ social personality disorder borderline personality disorder conduct disorder and mood disorders the fifth edition of the american psychiatric association s diagnostic and statistical manual of mental disorders dsm 5 that was published in 2013 includes a new chapter not in dsm iv tr on disruptive impulse control and conduct disorders covering disorders characterized by problems in emotional and behavioral self control it also includes impulse control disorders not elsewhere classified which encompasses inter￭ mit￭ tent explosive disorder py￭ romania and kle￭ p￭ tom￭ ania five behavi￭ our￭ al stages characterize impul￭ sivity an impulse growing tension pleasure on acting relief from the urge and finally guilt which may or may not arise
problem gambling
problem gambling or lu￭ dom￭ ania but usually referred to as gambling addiction or compul￭ sive gambling is an urge to gamble continuously despite harmful negative consequences or a desire to stop problem gambling is often defined by whether harm is experienced by the gam￭ bler or others rather than by the gam￭ bler s behavior severe problem gambling may be diagnosed as clinical pathological gambling if the gam￭ bler meets certain criteria pathological gambling is a common disorder that is associated with both social and family costs
problem gambling or lu￭ dom￭ ania but usually referred to as gambling addiction or compul￭ sive gambling is an urge to gamble continuously despite harmful negative consequences or a desire to stop problem gambling is often defined by whether harm is experienced by the gam￭ bler or others rather than by the gam￭ bler s behavior severe problem gambling may be diagnosed as clinical pathological gambling if the gam￭ bler meets certain criteria pathological gambling is a common disorder that is associated with both social and family costs the dsm 5 has re classified the condition as an addictive disorder with sufferers exhi￭ biting many similarities to those who have substance addic￭ tions the term gambling addiction has long been used in the recovery movement pathological gambling was long considered by the american psychiatric association to be an impulse control disorder rather than an addiction however data suggest a closer relationship between pathological gambling and substance use disorders than exists between pg and obs￭ essive compul￭ sive disorder largely because the behaviors in problem gambling and most primary substance use disorders i e those not resulting from a desire to self medic￭ ate for another condition such as depression seek to activate the brain s reward mechanisms while the behaviors character￭ izing obs￭ essive compul￭ sive disorder are prompted by over￭ active and misplaced signals from the brain s fear mechanisms
py￭ romania
py￭ romania is an impulse control disorder in which individuals repeatedly fail to resist impul￭ ses to deliberately start fires in order to relieve tension or for instant grati￭ fication the term py￭ romania comes from the greek word π￭ ῦ￭ ρ py￭ ro fire py￭ romania is distinct from arson the deliberate setting of fires for personal monetary or political gain py￭ roman￭ iacs start fires to induce euphoria and often fix￭ ate on institutions of fire control like fire stations and firefighters py￭ romania is a type of impulse control disorder along with kle￭ p￭ tom￭ ania inter￭ mit￭ tent explosive disorder and others
kle￭ p￭ tom￭ ania
kle￭ p￭ tom￭ ania or kl￭ op￭ em￭ ania is the inability to refrain from the urge to steal items and is done for reasons other than personal use or financial gain first described in 18￭ 16 kle￭ p￭ tom￭ ania is classified in psychiatry as an impulse control disorder alternatively some of the main characteristics of the disorder which consist of recurring intrusion feelings an inability to resist the urge to steal and a release of pressure following the theft suggest that kle￭ p￭ tom￭ ania could be an obs￭ essive compul￭ sive spectrum disorder although this is disputed
tric￭ ho￭ til￭ lo￭ mania
tric￭ ho￭ til￭ lo￭ mania also known as hair pulling disorder is an impulse control disorder characterised by a long term urge that results in the pulling out of one s hair this occurs to such a degree that hair loss can be seen efforts to stop pulling hair typically fail hair removal may occur anywhere however the head and around the eyes are most common the hair pulling is to such a degree that it results in distress
inter￭ mit￭ tent explosive disorder
inter￭ mit￭ tent explosive disorder sometimes abbreviated as ied is a behavioral disorder characterized by explosive out￭ bursts of anger and violence often to the point of rage that are disproportionate to the situation at hand e g impul￭ sive screaming triggered by relatively in￭ consequential events impul￭ sive aggression is un￭ pre￭ med￭ itated and is defined by a disproportionate reaction to any provocation real or perceived some individuals have reported aff￭ ective changes prior to an out￭ burst e g tension mood changes energy changes etc
inter￭ mit￭ tent explosive disorder sometimes abbreviated as ied is a behavioral disorder characterized by explosive out￭ bursts of anger and violence often to the point of rage that are disproportionate to the situation at hand e g impul￭ sive screaming triggered by relatively in￭ consequential events impul￭ sive aggression is un￭ pre￭ med￭ itated and is defined by a disproportionate reaction to any provocation real or perceived some individuals have reported aff￭ ective changes prior to an out￭ burst e g tension mood changes energy changes etc the disorder is currently categ￭ orized in the diagnostic and statistical manual of mental disorders dsm 5 under the disruptive impulse control and conduct disorders category the disorder itself is not easily characterized and often exhi￭ bits com￭ or￭ bi￭ dity with other mood disorders particularly bipolar disorder individuals diagnosed with ied report their out￭ bursts as being brief lasting less than an hour with a variety of bodily symptoms swe￭ ating stu￭ t￭ tering chest ti￭ ght￭ ness tw￭ it￭ ching pal￭ p￭ itations reported by a third of one sample aggressive acts are frequently reported accompanied by a sensation of relief and in some cases pleasure but often followed by later re￭ morse
trans￭ sexual
gender dy￭ sp￭ h￭ oria
gender dy￭ sp￭ h￭ oria or gender identity disorder gi￭ d is the dy￭ sp￭ h￭ oria distress a person experiences as a result of the sex and gender they were assigned at birth there is evidence suggesting that people who identify with a gender different from the one they were assigned at birth may do so not just due to psychological or behavioral causes but also biological ones related to their genetics or exposure to hormones before birth
gender dy￭ sp￭ h￭ oria or gender identity disorder gi￭ d is the dy￭ sp￭ h￭ oria distress a person experiences as a result of the sex and gender they were assigned at birth there is evidence suggesting that people who identify with a gender different from the one they were assigned at birth may do so not just due to psychological or behavioral causes but also biological ones related to their genetics or exposure to hormones before birth estimates of the prevalence of gender dy￭ sp￭ h￭ oria or gi￭ d range from a lower bound of 1 2000 or about 0 05 in the netherlands and belgium to 0 5 of massachusetts adults to 1 2 of new zealand high school students these numbers are based on those who identify as trans￭ gender it is estimated that about 0 005 to 0 0￭ 14 of males and 0 002 to 0 003 of females would be diagnosed with gender dy￭ sp￭ h￭ oria based on current diagnostic criteria research indicates people who transition in adul￭ thood are up to three times more likely to be male assigned at birth but that among people transi￭ tioning in childhood the sex ratio is close to 1 1 gi￭ d is classified as a disorder by the ic￭ d 10 cm and dsm 5 called gender dy￭ sp￭ h￭ oria some trans￭ gender people and researchers support decl￭ assi￭ fication of gi￭ d because they say the diagnosis patho￭ logi￭ zes gender variance reinforces the b￭ inary model of gender and can result in stigmati￭ zation of trans￭ gender individuals the official reclassi￭ fication as gender dy￭ sp￭ h￭ oria in the dsm 5 may help resolve some of these issues because the term gender dy￭ sp￭ h￭ oria applies only to the discontent experienced by some persons resulting from gender identity issues the american psychiatric association publish￭ er of the dsm 5 states that gender non￭ conformity is not in itself a mental disorder the critical element of gender dy￭ sp￭ h￭ oria is the presence of clin￭ ically significant distress associated with the condition the current main psychiatric approaches to treatment for persons diagnosed with gi￭ d are psycho￭ therapy or to support the individual s preferred gender through hormone therapy gender expression and role or surgery
par￭ ap￭ hi￭ lia
par￭ ap￭ hi￭ lia also known as sexual per￭ version and sexual deviation is the experience of intense sexual ar￭ ous￭ al to atypical objects fe￭ ti￭ shes situations fantasies behaviors or individuals no consensus has been found for any precise border between unusual sexual interests and par￭ ap￭ hil￭ ic ones there is debate over which if any of the par￭ ap￭ hi￭ li￭ as should be listed in diagnostic manu￭ als such as the diagnostic and statistical manual of mental disorders dsm or the international classification of diseases ic￭ d
par￭ ap￭ hi￭ lia also known as sexual per￭ version and sexual deviation is the experience of intense sexual ar￭ ous￭ al to atypical objects fe￭ ti￭ shes situations fantasies behaviors or individuals no consensus has been found for any precise border between unusual sexual interests and par￭ ap￭ hil￭ ic ones there is debate over which if any of the par￭ ap￭ hi￭ li￭ as should be listed in diagnostic manu￭ als such as the diagnostic and statistical manual of mental disorders dsm or the international classification of diseases ic￭ d the number and tax￭ on￭ omy of par￭ ap￭ hi￭ li￭ as is under debate one source lists as many as 549 types of par￭ ap￭ hi￭ li￭ as the dsm 5 has specific lis￭ tings for eight par￭ ap￭ hil￭ ic disorders several sub classifications of the par￭ ap￭ hi￭ li￭ as have been proposed and some argue that a fully dimensional spectrum or complaint oriented approach would better reflect the evidence
sexual fe￭ ti￭ sh￭ ism
sexual fe￭ ti￭ sh￭ ism or erotic fe￭ ti￭ sh￭ ism is a sexual focus on a non￭ living object or non￭ genital body part the object of interest is called the fe￭ tish the person who has a fe￭ tish for that object is a fe￭ ti￭ sh￭ ist a sexual fe￭ tish may be regarded as a non pathological aid to sexual excitement or as a mental disorder if it causes significant psycho￭ social distress for the person or has detrimental effects on important areas of their life sexual ar￭ ous￭ al from a particular body part can be further classified as parti￭ alism
sexual fe￭ ti￭ sh￭ ism or erotic fe￭ ti￭ sh￭ ism is a sexual focus on a non￭ living object or non￭ genital body part the object of interest is called the fe￭ tish the person who has a fe￭ tish for that object is a fe￭ ti￭ sh￭ ist a sexual fe￭ tish may be regarded as a non pathological aid to sexual excitement or as a mental disorder if it causes significant psycho￭ social distress for the person or has detrimental effects on important areas of their life sexual ar￭ ous￭ al from a particular body part can be further classified as parti￭ alism while medical definitions restrict the term sexual fe￭ ti￭ sh￭ ism to objects or body parts fe￭ tish can also refer to sexual interest in specific activities in common discourse
vo￭ ye￭ ur￭ ism
vo￭ ye￭ ur￭ ism is the sexual interest in or practice of spying on people engaged in intimate behaviors such as und￭ res￭ sing sexual activity or other actions usually considered to be of a private nature the vo￭ ye￭ ur does not normally interact directly with the subject of his her interest who is often unaware of being observed the essence of vo￭ ye￭ ur￭ ism is the observing but may also involve the making of a secret photograph or video of the subject during an intimate activity
pe￭ dop￭ hi￭ lia
pe￭ dop￭ hi￭ lia or paedophilia is a psychiatric disorder in which an adult or older adoles￭ cent experiences a primary or exclusive sexual attraction to pre￭ pu￭ bes￭ cent children although girls typically begin the process of pu￭ ber￭ ty at age 10 or 11 and boys at age 11 or 12 criteria for pe￭ dop￭ hi￭ lia extend the cut off point for pre￭ pu￭ bes￭ cence to age 13 a person who is diagnosed with pe￭ dop￭ hi￭ lia must be at least 16 years old but adolescents must be at least five years older than the pre￭ pu￭ bes￭ cent child for the attraction to be diagnosed as pe￭ dop￭ hi￭ lia
pe￭ dop￭ hi￭ lia or paedophilia is a psychiatric disorder in which an adult or older adoles￭ cent experiences a primary or exclusive sexual attraction to pre￭ pu￭ bes￭ cent children although girls typically begin the process of pu￭ ber￭ ty at age 10 or 11 and boys at age 11 or 12 criteria for pe￭ dop￭ hi￭ lia extend the cut off point for pre￭ pu￭ bes￭ cence to age 13 a person who is diagnosed with pe￭ dop￭ hi￭ lia must be at least 16 years old but adolescents must be at least five years older than the pre￭ pu￭ bes￭ cent child for the attraction to be diagnosed as pe￭ dop￭ hi￭ lia pe￭ dop￭ hi￭ lia is termed ped￭ oph￭ il￭ ic disorder in the diagnostic and statistical manual of mental disorders dsm 5 and the manual defines it as a par￭ ap￭ hi￭ lia involving intense and recurrent sexual urges towards and fantasies about pre￭ pu￭ bes￭ cent children that have either been acted upon or which cause the person with the attraction distress or inter￭ personal difficulty the international classification of diseases ic￭ d 10 defines it as a sexual preference for children of pre￭ pu￭ ber￭ tal or early pu￭ ber￭ tal age in popular usage the word pe￭ dop￭ hi￭ lia is often applied to any sexual interest in children or the act of child sexual abuse this use con￭ fl￭ ates the sexual attraction to pre￭ pu￭ bes￭ cent children with the act of child sexual abuse and fails to distinguish between attraction to pre￭ pu￭ bes￭ cent and pu￭ bes￭ cent or post pu￭ bes￭ cent minors researchers recommend that these imprecise uses be avoided because although people who commit child sexual abuse sometimes exhibit the disorder child sexual abuse offenders are not ped￭ oph￭ iles unless they have a primary or exclusive sexual interest in pre￭ pu￭ bes￭ cent children and the literature indicates the existence of ped￭ oph￭ iles who do not mol￭ est children pe￭ dop￭ hi￭ lia was first formally recognized and named in the late 19 th century a significant amount of research in the area has taken place since the 1980 s although mostly documented in men there are also women who exhibit the disorder and researchers assume available estimates under￭ represent the true number of female ped￭ oph￭ iles no cure for pe￭ dop￭ hi￭ lia has been developed but there are therapies that can reduce the incidence of a person committing child sexual abuse the exact causes of pe￭ dop￭ hi￭ lia have not been conclu￭ sively established some studies of pe￭ dop￭ hi￭ lia in child sex offenders have correlated it with various neuro￭ logical ab￭ norm￭ alities and psychological patho￭ logies in the united states following kansas v hend￭ ric￭ ks sex offenders who are diagnosed with certain mental disorders particularly pe￭ dop￭ hi￭ lia can be subject to indefinite civil commitment
necro￭ phi￭ lia
necro￭ phi￭ lia also called than￭ at￭ ophi￭ lia is a sexual attraction or sexual act involving corp￭ ses the attraction is classified as a par￭ ap￭ hi￭ lia by the diagnostic and statistical manual dsm of the american psychiatric association the term was coined by the belgian alien￭ ist joseph gu￭ is￭ lain who first used it in a lecture in 18￭ 50 it derives from the greek words ν￭ εκ￭ ρ￭ ός ne￭ k￭ ros dead and φ￭ ι￭ λ￭ ία phi￭ lia love
post co￭ ital tr￭ ist￭ esse
post co￭ ital tr￭ ist￭ esse pc￭ t or post co￭ ital dy￭ sp￭ h￭ oria p￭ cd is the feeling of sadness anxiety ag￭ itation or aggression after sexual inter￭ course its name comes from new latin post￭ co￭ ital￭ is and french tr￭ ist￭ esse literally sadness many people with pc￭ t may exhibit strong feelings of anxiety lasting from five minutes to two hours after co￭ it￭ us one study reported that almost half of female university students reported p￭ cd symptoms at least once in their lifetime the study also reported that there appeared to be no correlation between p￭ cd and intim￭ acy in close relationships
ego dy￭ st￭ onic sexual orientation
ego dy￭ st￭ onic sexual orientation is an ego dy￭ st￭ onic mental disorder characterized by having a sexual orientation or an attraction that is at odds with one s ide￭ alized self image causing anxiety and a desire to change one s orientation or become more comfortable with one s sexual orientation it describes not in￭ nate sexual orientation itself but a conflict between the sexual orientation one wishes to have and the sexual orientation one actually possesses
mun￭ cha￭ usen syndrome
mün￭ cha￭ usen syndrome is a psychiatric fac￭ ti￭ tious disorder where￭ in those affected fe￭ i￭ gn disease illness or psychological trauma to draw attention sympathy or reassurance to themselves mun￭ cha￭ usen syndrome fits within the sub￭ class of fac￭ ti￭ tious disorder with predominantly physical signs and symptoms but patients also have a history of recurrent hosp￭ itali￭ zation travelling and dramatic extremely impro￭ bable tales of their past experiences the condition derives its name from the fic￭ tional character baron mun￭ cha￭ usen
lu￭ jan – fr￭ y￭ ns syndrome
lu￭ jan – fr￭ y￭ ns syndrome l￭ fs also referred to as x linked mental retar￭ dation with mar￭ fan￭ o￭ id habit￭ us and lu￭ jan syndrome is an x linked genetic disorder that causes mild to moderate intellectual disability and features described as mar￭ fan￭ o￭ id habit￭ us referring to a group of physical characteristics similar to those found in mar￭ fan syndrome these features include a tall thin stature and long sl￭ ender limbs l￭ fs is also associated with psychop￭ ath￭ ology and behavioral ab￭ norm￭ alities and it exhi￭ bits a number of mal￭ formations affecting the brain and heart the disorder is inherited in an x linked dominant manner and is attributed to a mis￭ sense mutation in the med 12 gene there is currently no treatment or therapy for the underlying med 12 mal￭ function and the exact eti￭ ology of the disorder re￭ mai
intellectual disability
intellectual disability id also known as general learning disability and mental retar￭ dation mr is a generalized neuro￭ developmental disorder characterized by significantly impaired intellectual and adap￭ tive functioning it is defined by an i￭ q score under 70 in addition to deficits in two or more adap￭ tive behaviors that affect everyday general living once focused almost entirely on cogn￭ ition the definition now includes both a component relating to mental functioning and one relating to individuals functional skills in their environments as a result of this focus on the person s abilities in practice a person with an unusually low i￭ q may not be considered intellectually disabled intellectual disability is subdivided into syndro￭ mic intellectual disability in which intellectual d
intellectual disability id also known as general learning disability and mental retar￭ dation mr is a generalized neuro￭ developmental disorder characterized by significantly impaired intellectual and adap￭ tive functioning it is defined by an i￭ q score under 70 in addition to deficits in two or more adap￭ tive behaviors that affect everyday general living once focused almost entirely on cogn￭ ition the definition now includes both a component relating to mental functioning and one relating to individuals functional skills in their environments as a result of this focus on the person s abilities in practice a person with an unusually low i￭ q may not be considered intellectually disabled intellectual disability is subdivided into syndro￭ mic intellectual disability in which intellectual deficits associated with other medical and behavioral signs and symptoms are present and non syndro￭ mic intellectual disability in which intellectual deficits appear without other ab￭ norm￭ alities down syndrome and fragile x syndrome are examples of syndro￭ mic intellectual disabilities intellectual disability affects about 2 – 3 of the general population seventy five to ninety percent of the affected people have mild intellectual disability non syndro￭ mic or idi￭ opathic cases account for 30 – 50 of cases about a quarter of cases are caused by a genetic disorder and about 5 of cases are inherited from a person s parents cases of unknown cause affect about 95 million people as of 2013 the terms used for this condition are subject to a process called the euph￭ em￭ ism tre￭ ad￭ mill this means that whatever term is chosen for this condition it eventually becomes perceived as an insult the terms mental retar￭ dation and mentally retar￭ ded were invented in the middle of the 20 th century to replace the previous set of terms which were deemed to have become offensive by the end of the 20 th century these terms themselves have come to be widely seen as dis￭ parag￭ ing politically incorrect and in need of replacement the term intellectual disability is now preferred by most advocates and researchers in most english speaking countries as of 2015 the term mental retar￭ dation is still used by the world health organization in the ic￭ d 10 codes which have a section tit￭ led mental retar￭ dation codes f 70 – f 79 in the next revision the ic￭ d 11 is expected to replace the term mental retar￭ dation with either intellectual disability or intellectual developmental disorder which the dsm 5 already uses because of its specificity and lack of confusion with other conditions the term mental retar￭ dation is still sometimes used in professional medical settings around the world such as formal scientific research and health insurance paperwork
language disorder
language disorders or language impair￭ ments are disorders that involve the processing of linguistic information problems that may be experienced can involve gr￭ ammar syn￭ tax and or mor￭ pho￭ logy sem￭ an￭ tics meaning or other aspects of language these problems may be receptive involving impaired language comprehension expres￭ sive involving language production or a combination of both examples include specific language impairment and ap￭ ha￭ sia among others language disorders can affect both spoken and written language and can also affect sign language typically all forms of language will be impaired
specific developmental disorder
specific developmental disorders are disorders in which development is delayed in one specific area or areas and in which basically all other areas of development are not affected specific developmental disorders are as opposed to pervasive developmental disorders that are characterized by delays in the development of multiple basic functions including soci￭ alization and communication
expres￭ sive ap￭ ha￭ sia
expres￭ sive ap￭ ha￭ sia non flu￭ ent ap￭ ha￭ sia is characterized by the loss of the ability to produce language spoken or written a person with expres￭ sive ap￭ ha￭ sia will exhibit effor￭ tful speech speech may only include important content words and leave out insignificant words like the this is known as tele￭ graphic speech the person may still be understood but sentences will not be gr￭ amm￭ atical in very severe forms of expres￭ sive ap￭ ha￭ sia a person may only speak using single word ut￭ ter￭ ances it is one sub￭ set of a larger family of disorders known collectively as ap￭ ha￭ sia expres￭ sive ap￭ ha￭ sia differs from dys￭ ar￭ thri￭ a which is ty￭ pi￭ fied by a patient s inability to properly move the muscles of the tongue and mouth to produce speech expres￭ sive ap￭ ha￭ sia also differs from ap￭ ra￭ x￭ ia of speech which is a
receptive ap￭ ha￭ sia
receptive ap￭ ha￭ sia also known as wer￭ nic￭ ke s ap￭ ha￭ sia flu￭ ent ap￭ ha￭ sia or sensory ap￭ ha￭ sia is a type of ap￭ ha￭ sia in which an individual is unable to understand language in its written or spoken form even though they can speak using gr￭ ammar syn￭ tax rate and int￭ on￭ ation they typically have difficulty expressing themselves meaning￭ fully through speech receptive ap￭ ha￭ sia was named after carl wer￭ nic￭ ke who recognized this condition people with receptive ap￭ ha￭ sia are typically unaware of how they are speaking and do not realize their speech may lack meaning this is due to the fact that they have poor comprehension skills and do not understand their own speech they typically remain unaware of even their most profound language deficits when experienced with bro￭ ca s ap￭ ha￭ sia the patient displays g
agno￭ sia
land￭ au – kle￭ ff￭ ner syndrome
land￭ au – kle￭ ff￭ ner syndrome l￭ ks — also called inf￭ anti￭ le acquired ap￭ ha￭ sia acquired epi￭ le￭ ptic ap￭ ha￭ sia or ap￭ ha￭ sia with con￭ vul￭ sive disorder — is a rare childhood neuro￭ logical syndrome it is named after william land￭ au and frank kle￭ ff￭ ner who characterized it in 1957 with a diagnosis of six children
lis￭ p
a lis￭ p also known as sigm￭ atism is a speech impediment in which a person mis￭ artic￭ ul￭ ates si￭ bil￭ ants s z ts dz ʃ ʒ t￭ ʃ d￭ ʒ these mis￭ artic￭ ul￭ ations often result in unclear speech
dys￭ l￭ ex￭ ia
dys￭ l￭ ex￭ ia also known as reading disorder is characterized by trouble with reading despite normal intelligence different people are affected to varying degrees problems may include difficulties in spelling words reading quickly writing words sounding out words in the head pronoun￭ cing words when reading al￭ oud and understanding what one reads often these difficulties are first noticed at school when someone who previously could read loses their ability it is known as alex￭ ia the difficulties are involuntary and people with this disorder have a normal desire to learn
dys￭ l￭ ex￭ ia also known as reading disorder is characterized by trouble with reading despite normal intelligence different people are affected to varying degrees problems may include difficulties in spelling words reading quickly writing words sounding out words in the head pronoun￭ cing words when reading al￭ oud and understanding what one reads often these difficulties are first noticed at school when someone who previously could read loses their ability it is known as alex￭ ia the difficulties are involuntary and people with this disorder have a normal desire to learn dys￭ l￭ ex￭ ia is believed to be caused by both genetic and environmental factors some cases run in families it often occurs in people with attention deficit hyper￭ activity disorder ad￭ hd and is associated with similar difficulties with numbers it may begin in adul￭ thood as the result of a traumatic brain injury stroke or dementia the underlying mechanisms of dys￭ l￭ ex￭ ia are problems within the brain s language processing dys￭ l￭ ex￭ ia is diagnosed through a series of tests of memory spelling vision and reading skills dys￭ l￭ ex￭ ia is separate from reading difficulties caused by hearing or vision problems or by insufficient teaching treatment involves adjusting teaching methods to meet the person s needs while not curing the underlying problem it may decrease the degree of symptoms treatments targeting vision are not effective dys￭ l￭ ex￭ ia is the most common learning disability and occurs in all areas of the world it affects 3 – 7 of the population however up to 20 may have some degree of symptoms while dys￭ l￭ ex￭ ia is more often diagnosed in men it has been suggested that it affects men and women equally some believe that dys￭ l￭ ex￭ ia should be best considered as a different way of learning with both benefits and down￭ sides
ger￭ st￭ mann syndrome
dys￭ cal￭ cu￭ lia
dys￭ cal￭ cu￭ lia ˌ￭ d￭ ɪ￭ sk￭ æ￭ l￭ ˈ￭ k￭ ju￭ ː￭ li ə is difficulty in learning or compreh￭ ending arithmetic such as difficulty in understanding numbers learning how to manipulate numbers and learning facts in mathematics it is generally seen as a specific developmental disorder dys￭ cal￭ cu￭ lia can occur in people from across the whole i￭ q range often higher than average and involving difficulties with time measurement and spatial reasoning estimates of the prevalence of dys￭ cal￭ cu￭ lia range between 3 and 6 of the population a quarter of children with dys￭ cal￭ cu￭ lia have ad￭ hd
learning disability
learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner usually caused by an unknown factor or factors given the difficulty learning in a typical manner this does not exclude the ability to learn in a different manner therefore some people can be more accurately described as having a learning difference thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereo￭ typing
learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner usually caused by an unknown factor or factors given the difficulty learning in a typical manner this does not exclude the ability to learn in a different manner therefore some people can be more accurately described as having a learning difference thus avoiding any misconception of being disabled with a lack of ability to learn and possible negative stereo￭ typing while learning disability learning disorder and learning difficulty are often used inter￭ change￭ ably they differ in many ways disorder refers to significant learning problems in an academic area these problems however are not enough to warrant an official diagnosis learning disability on the other hand is an official clinical diagnosis whereby the individual meets certain criteria as determined by a professional psycho￭ logist pedi￭ at￭ ric￭ ian etc the difference is in degree frequency and intensity of reported symptoms and problems and thus the two should not be confused when the term learning disorder is used it describes a group of disorders characterized by inadequate development of specific academic language and speech skills types of learning disorders include reading dys￭ l￭ ex￭ ia mathematics dys￭ cal￭ cu￭ lia and writing dys￭ grap￭ hia the unknown factor is the disorder that affects the brain s ability to receive and process information this disorder can make it problematic for a person to learn as quickly or in the same way as someone who is not affected by a learning disability people with a learning disability have trouble performing specific types of skills or completing tasks if left to figure things out by themselves or if taught in conventional ways individuals with learning disabilities can face unique challenges that are often pervasive throughout the lifespan depending on the type and severity of the disability interventions and current technologies may be used to help the individual learn strategies that will foster future success some interventions can be quite simplistic while others are intricate and complex current technologies may require student training to be effective classroom supports teachers parents and schools can create plans together that tailor intervention and accommod￭ ations to aid the individuals in successfully becoming independent lear￭ ners school psychologists and other qualified professionals quite often help design the intervention and coordinate the execution of the intervention with teachers and parents social support may improve the learning for students with learning disabilities
developmental coordination disorder
developmental coordination disorder d￭ cd also known as developmental dy￭ spra￭ x￭ ia or quite simply dy￭ spra￭ x￭ ia is a chronic neuro￭ logical disorder beginning in childhood that can affect planning of movements and co ordination as a result of brain messages not being accurately transmitted to the body developmental coordination disorder is diagnosed in the absence of other neuro￭ logical impair￭ ments like cere￭ br￭ al pal￭ sy muscular dy￭ stro￭ phy multiple sclerosis or par￭ kinson s disease it affects 5 to 6 percent of school aged children this disorder progres￭ ses to adul￭ thood therefore making it a lifelong condition
pervasive developmental disorder
the diagnostic category pervasive developmental disorders p￭ dd as opposed to specific developmental disorders s￭ dd refers to a group of five disorders characterized by delays in the development of multiple basic functions including soci￭ alization and communication the pervasive developmental disorders are pervasive developmental disorder not otherwise specified p￭ dd nos which includes atypical au￭ tism and is the most common au￭ tism the best known now understood to be part of a spectrum asper￭ ger syndrome rett syndrome and childhood dis￭ integr￭ ative disorder c￭ dd
the diagnostic category pervasive developmental disorders p￭ dd as opposed to specific developmental disorders s￭ dd refers to a group of five disorders characterized by delays in the development of multiple basic functions including soci￭ alization and communication the pervasive developmental disorders are pervasive developmental disorder not otherwise specified p￭ dd nos which includes atypical au￭ tism and is the most common au￭ tism the best known now understood to be part of a spectrum asper￭ ger syndrome rett syndrome and childhood dis￭ integr￭ ative disorder c￭ dd the first three of these disorders are commonly called the au￭ tism spectrum disorders the last two disorders are much r￭ arer and are sometimes placed in the au￭ tism spectrum and sometimes not the onset of pervasive developmental disorders occurs during infancy but the condition is usually not identified until the child is around three years old parents may begin to question the health of their child when developmental milestones are not met including age appropriate motor movement and speech production there is a division among doctors on the use of the term p￭ dd many use the term p￭ dd as a short way of saying p￭ dd nos others use the general category label of p￭ dd because they are hesitant to diagnose very young children with a specific type of p￭ dd such as au￭ tism both approaches contribute to confusion about the term because the term p￭ dd actually refers to a category of disorders and is not a diagnostic label
au￭ tism
au￭ tism is a neuro￭ developmental disorder characterized by impaired social interaction verbal and non verbal communication and restricted and repeti￭ tive behavior parents usually notice signs in the first two years of their child s life these signs often develop gradually though some children with au￭ tism reach their developmental milestones at a normal pace and then reg￭ ress the diagnostic criteria require that symptoms become apparent in early childhood typically before age three
au￭ tism is a neuro￭ developmental disorder characterized by impaired social interaction verbal and non verbal communication and restricted and repeti￭ tive behavior parents usually notice signs in the first two years of their child s life these signs often develop gradually though some children with au￭ tism reach their developmental milestones at a normal pace and then reg￭ ress the diagnostic criteria require that symptoms become apparent in early childhood typically before age three while au￭ tism is highly her￭ itable researchers suspect both environmental and genetic factors as causes in rare cases au￭ tism is strongly associated with agents that cause birth defects controversies surround other proposed environmental causes for example the vaccine hypo￭ theses which have since been dis￭ proven au￭ tism affects information processing in the brain by altering how nerve cells and their syn￭ ap￭ ses connect and organize how this occurs is not well understood in the dsm v it is one of three recognized disorders in the au￭ tism spectrum as￭ ds the other two being asper￭ ger syndrome which lacks delays in cognitive development and language and pervasive developmental disorder not otherwise specified commonly abbreviated as p￭ dd nos which is diagnosed when the full set of criteria for au￭ tism or asper￭ ger syndrome are not met early speech or behavioral interventions can help children with au￭ tism gain self care social and communication skills although there is no known cure there have been reported cases of children who recovered not many children with au￭ tism live independently after reaching adul￭ thood though some become successful an au￭ tis￭ tic culture has developed with some individuals seeking a cure and others believing au￭ tism should be accepted as a difference and not treated as a disorder globally au￭ tism is estimated to affect 21 7 million people as of 2013 as of 2010 the number of people affected is estimated at about 1 – 2 per 1 000 worldwide it occurs four to five times more often in boys than girls about 1 5 of children in the united states one in 68 are diagnosed with as￭ d as of 2014 a 30 increase from one in 88 in 2012 the rate of au￭ tism among adults aged 18 years and over in the united kingdom is 1 1 the number of people diagnosed has been increasing dramatically since the 1980 s partly due to changes in diagnostic practice and government subsidized financial incentives for named diagnoses the question of whether actual rates have increased is unresolved
rett syndrome
rett syndrome r￭ tt originally termed cere￭ bro￭ atro￭ ph￭ ic hyper￭ ammon￭ emia is a rare genetic post￭ natal neuro￭ logical disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients the clinical features include small hands and feet and a dec￭ el￭ eration of the rate of head growth including micro￭ cephal￭ y in some repeti￭ tive stereo￭ ty￭ ped hand movements such as wr￭ inging and or repeatedly putting hands into the mouth are also noted
rett syndrome r￭ tt originally termed cere￭ bro￭ atro￭ ph￭ ic hyper￭ ammon￭ emia is a rare genetic post￭ natal neuro￭ logical disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients the clinical features include small hands and feet and a dec￭ el￭ eration of the rate of head growth including micro￭ cephal￭ y in some repeti￭ tive stereo￭ ty￭ ped hand movements such as wr￭ inging and or repeatedly putting hands into the mouth are also noted people with rett syndrome are prone to gastro￭ intest￭ inal disorders and up to 80 have seizures they typically have no verbal skills and about 50 of affected individuals do not walk sco￭ li￭ osis growth failure and con￭ sti￭ p￭ ation are very common and can be problematic the signs of this disorder are most easily confused with those of angel￭ man syndrome cere￭ br￭ al pal￭ sy and au￭ tism rett syndrome occurs in approximately 1 10 000 live female births in all geograph￭ ies and across all races and ethn￭ ic￭ ities rett syndrome was formerly classified as a pervasive developmental disorder by the diagnostic and statistical manual of mental disorders dsm together with the au￭ tism spectrum disorders and childhood dis￭ integr￭ ative disorder some argued against this classification because r￭ tt is similar to non au￭ tis￭ tic spectrum disorders such as fragile x syndrome tuber￭ ous sclerosis or down syndrome where one can see au￭ tis￭ tic features it was removed from the dsm 5 in 2013 because it has a known molecular eti￭ ology it was first described by austrian pedi￭ at￭ ric￭ ian andreas rett in 1966 hu￭ da zo￭ gh￭ bi demonstrated in 1999 that rett syndrome is caused by mutations in the gene mec￭ p 2
childhood dis￭ integr￭ ative disorder
the childhood dis￭ integr￭ ative disorder c￭ dd also known as hel￭ ler s syndrome and dis￭ integr￭ ative psycho￭ sis is a rare condition characterized by late onset of developmental delays — or stunning re￭ vers￭ als — in language social function and motor skills researchers have not been successful in finding a cause for the disorder c￭ dd has some similarity to au￭ tism and is sometimes considered a low functioning form of it in may 2013 the term c￭ dd along with other types of au￭ tism was f￭ used into a single diagnostic term called au￭ tism spectrum disorder under the new dsm 5 manual therefore c￭ dd is now also called regressive au￭ tism being that this term can now refer to any type of au￭ tism spectrum disorder that involves regression including c￭ dd
asper￭ ger syndrome
asper￭ ger syndrome as also known as asper￭ ger s is a developmental disorder characterized by significant difficulties in social interaction and non￭ verbal communication along with restricted and repeti￭ tive patterns of behavior and interests as a mil￭ der au￭ tism spectrum disorder as￭ d it differs from other as￭ ds by relatively normal language and intelligence although not required for diagnosis physical clum￭ sin￭ ess and unusual use of language are common symptoms usually begin before two years old and typically last for a person s entire life
asper￭ ger syndrome as also known as asper￭ ger s is a developmental disorder characterized by significant difficulties in social interaction and non￭ verbal communication along with restricted and repeti￭ tive patterns of behavior and interests as a mil￭ der au￭ tism spectrum disorder as￭ d it differs from other as￭ ds by relatively normal language and intelligence although not required for diagnosis physical clum￭ sin￭ ess and unusual use of language are common symptoms usually begin before two years old and typically last for a person s entire life the exact cause of asper￭ ger s is unknown while it is likely partly inherited the underlying genetics have not been determined conclu￭ sively environmental factors are also believed to play a role brain imaging has not identified a common underlying problem the diagnosis of asper￭ ger s was removed in the 2013 fifth edition of the diagnostic and statistical manual of mental disorders dsm 5 and people with these symptoms are now included within the au￭ tism spectrum disorder along with au￭ tism and pervasive developmental disorder not otherwise specified it remains within the tenth edition of the international classification of diseases ic￭ d 10 as of 2015 there is no single treatment and the effectiveness of particular interventions is supported by only limited data treatment is aimed at improving poor communication skills obs￭ essive or repeti￭ tive rou￭ tines and physical clum￭ sin￭ ess interventions may include social skills training cognitive behavioral therapy physical therapy speech therapy parent training and medications for associated problems such as mood or anxiety most children improve as they grow up but social and communication difficulties usually persist some researchers and people on the au￭ tism spectrum have advocated a shift in attitudes toward the view that au￭ tism spectrum disorder is a difference rather than a disease that must be treated or cured in 2013 asper￭ ger s was estimated to affect 31 million people globally the syndrome is named after the austrian pedi￭ at￭ ric￭ ian hans asper￭ ger who in 1944 described children in his practice who lacked non￭ verbal communication had limited understanding of others feelings and were physically clumsy the modern conception of asper￭ ger syndrome came into existence in 1981 and went through a period of popul￭ arization it became a standardized diagnosis in the early 1990 s many questions and controversies remain about aspects of the disorder there is doubt about whether it is distinct from high functioning au￭ tism h￭ fa partly because of this the percentage of people affected is not firmly established
adult attention deficit hyper￭ activity disorder
adult attention deficit hyper￭ activity disorder also referred to as adult ad￭ hd or simply ad￭ hd in adults formerly a￭ add is the neuro￭ biological condition of attention deficit hyper￭ activity disorder ad￭ hd in adults about one third to two thirds of children with symptoms from early childhood continue to demonstrate notable ad￭ hd symptoms throughout life three sub￭ types of ad￭ hd are identified in the dsm 5 as predominantly in￭ attentive ad￭ hd pi predominantly hyper￭ active ad￭ hd ph combined type ad￭ hd c
adult attention deficit hyper￭ activity disorder also referred to as adult ad￭ hd or simply ad￭ hd in adults formerly a￭ add is the neuro￭ biological condition of attention deficit hyper￭ activity disorder ad￭ hd in adults about one third to two thirds of children with symptoms from early childhood continue to demonstrate notable ad￭ hd symptoms throughout life three sub￭ types of ad￭ hd are identified in the dsm 5 as predominantly in￭ attentive ad￭ hd pi predominantly hyper￭ active ad￭ hd ph combined type ad￭ hd c in later life the hyper￭ active impul￭ sive subtype manifests less frequently the hyper￭ activity symptoms tend to turn more into inner rest￭ lessness starting in adoles￭ cence and carrying on in adul￭ thood adult ad￭ hd is typically marked by in￭ attenti￭ veness difficulty getting work done procrast￭ ination and organizational problems specifically adults with ad￭ hd present with persistent difficulties in following directions remembering information concentrating organizing tasks completing work within specified time frames and appearing timely in appointments these difficulties affect several different areas of an ad￭ hd adult s life causing emotional social vocational marital legal financial and or academic problems as a result low self esteem is commonly developed however given the right guidance and co￭ aching these traits of ad￭ hd could also lead to career success diagnosis of the condition follows after one or several assessment interviews by a clin￭ ician including examination of personal history observ￭ ational evidence from family members or close friends academic reports often going back to school years etc as well as evaluation to diagnose additional possible conditions which often coexist with ad￭ hd called com￭ or￭ bi￭ dities or com￭ or￭ bid disorders the condition is highly her￭ itable and while its exact causes are not fully known genetic or environmental factors are understood to play a part ad￭ hd is a childhood onset condition usually requiring symptoms to have been present before age 12 for a diagnosis children under treatment will migrate to adult health services if necessary as they transit into adul￭ thood however diagnosis of adults involves full examination of their history successful treatment of ad￭ hd is usually based on a combination of medication cognitive behavioral therapy and co￭ aching or skills training medium to high intensity physical exercise improved sleep and improved and targeted nutrition are also known to have a positive effect within school and work reasonable accommod￭ ations may be put in place to help the individual work more efficiently and produc￭ tively
attention deficit hyper￭ activity disorder
attention deficit hyper￭ activity disorder ad￭ hd is a mental disorder of the neuro￭ developmental type it is characterized by problems paying attention excessive activity or difficulty controlling behavior which is not appropriate for a person s age these symptoms begin by age six to twelve are present for more than six months and cause problems in at least two settings such as school home or recreational activities in children problems paying attention may result in poor school performance although it causes impairment particularly in modern society many children with ad￭ hd have a good attention span for tasks they find interesting
attention deficit hyper￭ activity disorder ad￭ hd is a mental disorder of the neuro￭ developmental type it is characterized by problems paying attention excessive activity or difficulty controlling behavior which is not appropriate for a person s age these symptoms begin by age six to twelve are present for more than six months and cause problems in at least two settings such as school home or recreational activities in children problems paying attention may result in poor school performance although it causes impairment particularly in modern society many children with ad￭ hd have a good attention span for tasks they find interesting despite being the most commonly studied and diagnosed mental disorder in children and adolescents the cause is unknown in the majority of cases the world health organization who estimated that it affected about 39 million people as of 2013 it affects about 5 – 7 of children when diagnosed via the dsm iv criteria and 1 – 2 when diagnosed via the ic￭ d 10 criteria rates are similar between countries and depend mostly on how it is diagnosed ad￭ hd is diagnosed approximately three times more often in boys than in girls about 30 – 50 of people diagnosed in childhood continue to have symptoms into adul￭ thood and between 2 – 5 of adults have the condition the condition can be difficult to tell apart from other disorders as well as to distinguish from high levels of activity that are still within the normal range ad￭ hd management recommendations vary by country and usually involve some combination of counsel￭ ing lifestyle changes and medications the british guideline only recommends medications as a first line treatment in children who have severe symptoms and for medication to be considered in those with moderate symptoms who either refuse or fail to improve with counsel￭ ing though for adults medications are a first line treatment canadian and american guidelines recommend that medications and behavioral therapy be used together as a first line therapy except in pres￭ cho￭ ol aged children stimul￭ ant medication therapy is not recommended as a first line therapy in pres￭ cho￭ ol aged children in either guideline treatment with stimul￭ ants is effective for up to 14 months however its long term effectiveness is unclear adolescents and adults tend to develop coping skills which make up for some or all of their impair￭ ments the medical literature has described symptoms similar to ad￭ hd since the 19 th century ad￭ hd its diagnosis and its treatment have been considered controversial since the 1970 s the controversies have involved clin￭ icians teachers policymakers parents and the media topics include ad￭ hd s causes and the use of stimul￭ ant medications in its treatment most healthcare providers accept ad￭ hd as a genuine disorder in children and adults and the debate in the scientific community mainly centers on how it is diagnosed and treated the condition was officially known as attention deficit disorder add from 1980 to 1987 while before this it was known as hyper￭ k￭ ine￭ tic reaction of childhood
conduct disorder
conduct disorder cd is a mental disorder diagnosed in childhood or adoles￭ cence that presents itself through a repeti￭ tive and persistent pattern of behavior in which the basic rights of others or major age appropriate norms are violated these behaviors are often referred to as anti￭ social behaviors it is often seen as the precursor to anti￭ social personality disorder which is not diagnosed until the individual is 18 years old conduct disorder is estimated to affect 51 1 million people globally as of 2013
separation anxiety disorder
separation anxiety disorder sad is a psychological condition in which an individual experiences excessive anxiety regarding separation from home or from people to whom the individual has a strong emotional attachment e g a parent ca￭ reg￭ i￭ ver significant other or si￭ bl￭ ings it is most common in infants and small children typically between the ages of 6 – 7 months to 3 years separation anxiety is a natural part of the developmental process unlike sad indicated by excessive anxiety normal separation anxiety indicates healthy advan￭ cements in a child ’ s cognitive matur￭ ation and should not be considered a developing behavioral problem
selective mu￭ tism
reactive attachment disorder
reactive attachment disorder rad is described in clinical literature as a severe and relatively un￭ common disorder that can affect children rad is characterized by markedly disturbed and develop￭ mentally inappropriate ways of relating socially in most contexts it can take the form of a persistent failure to initiate or respond to most social interactions in a develop￭ mentally appropriate way — known as the inhi￭ bited form — or can present itself as indiscriminate soci￭ ability such as excessive familiarity with relative strangers — known as the dis￭ inhi￭ bited form the term is used in both the world health organization s international statistical classification of diseases and related health problems ic￭ d 10 and in the dsm iv tr the revised fourth edition of the american psychiatric associ￭ ati
tou￭ ret￭ te syndrome
tou￭ ret￭ te syndrome ts or simply tou￭ ret￭ te s is a common neuro￭ psychiatric disorder with onset in childhood characterized by multiple motor tics and at least one vocal ph￭ onic tic these tics characteris￭ tically wax and w￭ ane can be suppressed temporarily and are typically preceded by an unwanted urge or sensation in the affected muscles some common tics are eye blin￭ king cou￭ gh￭ ing throat clearing sni￭ ffing and facial movements tou￭ ret￭ te s does not adversely affect intelligence or life expectancy
no￭ c￭ tur￭ nal en￭ u￭ res￭ is
no￭ c￭ tur￭ nal en￭ u￭ res￭ is also called bed￭ we￭ tting is involuntary ur￭ ination while asleep after the age at which blad￭ der control usually occurs no￭ c￭ tur￭ nal en￭ u￭ res￭ is is considered primary p￭ ne when a child has not yet had a prolonged period of being dry secondary no￭ c￭ tur￭ nal en￭ u￭ res￭ is sne is when a child or adult begins we￭ tting again after having stayed dry bed￭ we￭ tting is the most common childhood complaint most girls stay dry by age six and most boys stay dry by age seven by ten years old 95 of children are dry at night studies place adult bed￭ we￭ tting rates at between 0 5 and 2 3
tric￭ hop￭ ha￭ gia
tric￭ hop￭ ha￭ gia greek τρ￭ ι￭ χ￭ ο￭ φα￭ γ￭ ία from τρ￭ ί￭ χ￭ α tric￭ ha “ hair ” φά￭ γ￭ ει￭ ν p￭ ha￭ ge￭ in “ to eat ” is the compul￭ sive eating of hair associated with tric￭ ho￭ til￭ lo￭ mania hair pulling in tric￭ hop￭ ha￭ gia people with tric￭ ho￭ til￭ lo￭ mania also ing￭ est the hair that they pull in extreme and rare cases this can lead to a hair ball tric￭ ho￭ be￭ zo￭ ar
stu￭ t￭ tering
stu￭ t￭ tering ˈ￭ st￭ ʌ￭ t￭ ə￭ r￭ ɪ￭ ŋ or stam￭ mering ˈ￭ st￭ æ￭ m￭ ə￭ r￭ ɪ￭ ŋ al￭ alia sy￭ ll￭ ab￭ aris al￭ alia liter￭ alis or an￭ ar￭ thri￭ a liter￭ alis is a speech disorder in which the flow of speech is disrupted by involuntary repeti￭ tions and pro￭ long￭ ations of sounds sy￭ ll￭ ables words or phrases as well as involuntary silent pa￭ uses or blocks in which the person who stu￭ t￭ ters is unable to produce sounds the term stu￭ t￭ tering is most commonly associated with involuntary sound repetition but it also encompasses the abnormal hesitation or pa￭ using before speech referred to by people who stu￭ tter as blocks and the prolongation of certain sounds usually vo￭ wels or semi￭ vo￭ wels according to wat￭ kins et al stu￭ t￭ tering is a disorder of selection initiation and execution of motor sequences necessary for flu￭ ent speech production for
stu￭ t￭ tering ˈ￭ st￭ ʌ￭ t￭ ə￭ r￭ ɪ￭ ŋ or stam￭ mering ˈ￭ st￭ æ￭ m￭ ə￭ r￭ ɪ￭ ŋ al￭ alia sy￭ ll￭ ab￭ aris al￭ alia liter￭ alis or an￭ ar￭ thri￭ a liter￭ alis is a speech disorder in which the flow of speech is disrupted by involuntary repeti￭ tions and pro￭ long￭ ations of sounds sy￭ ll￭ ables words or phrases as well as involuntary silent pa￭ uses or blocks in which the person who stu￭ t￭ ters is unable to produce sounds the term stu￭ t￭ tering is most commonly associated with involuntary sound repetition but it also encompasses the abnormal hesitation or pa￭ using before speech referred to by people who stu￭ tter as blocks and the prolongation of certain sounds usually vo￭ wels or semi￭ vo￭ wels according to wat￭ kins et al stu￭ t￭ tering is a disorder of selection initiation and execution of motor sequences necessary for flu￭ ent speech production for many people who stu￭ tter repetition is the primary problem the term stu￭ t￭ tering covers a wide range of severity encompassing barely percep￭ tible impediments that are largely cosmetic to severe symptoms that effectively prevent oral communication in the world approximately four times as many men as women stu￭ tter encompassing 70 million people worldwide or about 1 of the world s population the impact of stu￭ t￭ tering on a person s functioning and emotional state can be severe this may include fears of having to en￭ unci￭ ate specific vo￭ wels or cons￭ on￭ ants fears of being caught stu￭ t￭ tering in social situations self imposed isolation anxiety stress shame being a possible target of bullying especially in children having to use word substitution and re￭ arrange words in a sentence to hide stu￭ t￭ tering or a feeling of loss of control during speech stu￭ t￭ tering is sometimes popul￭ arly seen as a symptom of anxiety but there is actually no direct correlation in that direction though as mentioned the in￭ verse can be true as social anxiety may actually develop in individuals as a result of their stu￭ t￭ tering stu￭ t￭ tering is generally not a problem with the physical production of speech sounds or putting thoughts into words acute nerv￭ ousness and stress do not cause stu￭ t￭ tering but they can trigger stu￭ t￭ tering in people who have the speech disorder and living with a stigmati￭ zed disability can result in anxiety and high allo￭ static stress load i e chronic nerv￭ ousness and stress that reduce the amount of acute stress necessary to trigger stu￭ t￭ tering in any given person who stu￭ t￭ ters exacerbating the problem in the manner of a positive feedback system the name stu￭ t￭ tered speech syndrome has been proposed for this condition neither acute nor chronic stress however itself creates any pre￭ disposition to stu￭ t￭ tering the disorder is also variable which means that in certain situations such as talking on the telephone or in a large group the stu￭ t￭ tering might be more severe or less depending on whether or not the stu￭ t￭ ter￭ er is self conscious about their stu￭ t￭ tering stu￭ t￭ ter￭ ers often find that their stu￭ t￭ tering fluctu￭ ates and that they have good days bad days and stu￭ tter free days the times in which their stu￭ t￭ tering fluctu￭ ates can be random although the exact eti￭ ology or cause of stu￭ t￭ tering is unknown both genetics and neuro￭ physi￭ ology are thought to contribute there are many treatments and speech therapy techniques available that may help decrease speech dis￭ flu￭ ency in some people who stu￭ tter to the point where an un￭ trained ear cannot identify a problem however there is essentially no cure for the disorder at present the severity of the person s stu￭ t￭ tering would correspond to the amount of speech therapy needed to decrease dis￭ flu￭ ency for severe stu￭ t￭ tering long term therapy and hard work will be required to decrease dis￭ flu￭ ency
speech disorder
speech disorders or speech impediments are a type of communication disorder where normal speech is disrupted this can mean stu￭ t￭ tering lis￭ ps etc someone who is unable to speak due to a speech disorder is considered mu￭ te
clu￭ t￭ tering
nail biting
nail biting also known as ony￭ chop￭ ha￭ gy or ony￭ chop￭ ha￭ gia is an oral compul￭ sive habit it is sometimes described as a par￭ af￭ unc￭ tional activity the common use of the mouth for an activity other than speaking eating or drinking
nail biting also known as ony￭ chop￭ ha￭ gy or ony￭ chop￭ ha￭ gia is an oral compul￭ sive habit it is sometimes described as a par￭ af￭ unc￭ tional activity the common use of the mouth for an activity other than speaking eating or drinking nail biting is very common especially amongst children less innocent forms of nails biting are considered an impulse control disorder in the dsm iv r and is classified under obs￭ essive compul￭ sive and related disorders in the dsm 5 the ic￭ d 10 classi￭ fies it as other specified behavioral and emotional disorders with onset usually occurring in childhood and adoles￭ cence however not all nail biting is pathological and the difference between harmful obsession and normal behavior is not always clear
ony￭ cho￭ til￭ lo￭ mania
ony￭ cho￭ til￭ lo￭ mania is a compul￭ sive neuro￭ sis in which a person picks constantly at the nails or tries to tear them off it is not the same as ony￭ chop￭ ha￭ gia where the nails are bit￭ ten or chewed or der￭ mati￭ l￭ lo￭ mania where skin is bit￭ ten or scrat￭ ched it is commonly associated with psychiatric disorders such as depres￭ sive neuro￭ sis delu￭ sions of inf￭ est￭ ation and hypo￭ ch￭ on￭ dri￭ asis it was named by professor jan al￭ ki￭ ew￭ ic￭ z a polish der￭ mato￭ logist the constant destruction of the nail bed leads to ony￭ cho￭ dy￭ stro￭ phy par￭ ony￭ ch￭ ia and dark￭ ening of the nail
mental disorder
emotional disabilities re￭ directs here for other uses see emotional disability a mental disorder also called a mental illness or psychiatric disorder is a diagnosis by a mental health professional of a behavioral or mental pattern that may cause suffering or a poor ability to function in life such features may be persistent relap￭ sing and re￭ mitting or occur as a single episode many disorders have been described with signs and symptoms that vary widely between specific disorders
men￭ ing￭ i￭ tis
men￭ ing￭ i￭ tis is an acute infl￭ amm￭ ation of the protective memb￭ ran￭ es covering the brain and spinal cord known collectively as the men￭ inges the most common symptoms are fever headache and neck sti￭ ff￭ ness other symptoms include confusion or altered consciousness v￭ om￭ iting and an inability to tolerate light or loud noises young children often exhibit only non￭ specific symptoms such as irrit￭ ability drow￭ sin￭ ess or poor feeding if a rash is present it may indicate a particular cause of men￭ ing￭ i￭ tis for instance men￭ ing￭ i￭ tis caused by men￭ in￭ go￭ coc￭ cal bacteria may be accompanied by a characteristic rash
men￭ ing￭ i￭ tis is an acute infl￭ amm￭ ation of the protective memb￭ ran￭ es covering the brain and spinal cord known collectively as the men￭ inges the most common symptoms are fever headache and neck sti￭ ff￭ ness other symptoms include confusion or altered consciousness v￭ om￭ iting and an inability to tolerate light or loud noises young children often exhibit only non￭ specific symptoms such as irrit￭ ability drow￭ sin￭ ess or poor feeding if a rash is present it may indicate a particular cause of men￭ ing￭ i￭ tis for instance men￭ ing￭ i￭ tis caused by men￭ in￭ go￭ coc￭ cal bacteria may be accompanied by a characteristic rash the infl￭ amm￭ ation may be caused by infection with viruses bacteria or other micro￭ organisms and less commonly by certain drugs men￭ ing￭ i￭ tis can be life threatening because of the infl￭ amm￭ ation s proximity to the brain and spinal cord therefore the condition is classified as a medical emergency a lum￭ bar punc￭ ture diagnoses or excludes men￭ ing￭ i￭ tis a needle is inserted into the spinal canal to collect a sample of cere￭ bro￭ spinal fluid c￭ sf that envelop￭ s the brain and spinal cord the c￭ sf is examined in a medical laboratory some forms of men￭ ing￭ i￭ tis are preventable by immun￭ ization with the men￭ in￭ go￭ coc￭ cal mum￭ ps pneu￭ mo￭ coc￭ cal and hi￭ b vaccines giving antibiotics to people with significant exposure to certain types of men￭ ing￭ i￭ tis may also be useful the first treatment in acute men￭ ing￭ i￭ tis consists of promptly giving antibiotics and sometimes anti￭ viral drugs cor￭ ti￭ co￭ ster￭ oids can also be used to prevent complications from excessive infl￭ amm￭ ation men￭ ing￭ i￭ tis can lead to serious long term consequences such as deaf￭ ness epi￭ le￭ psy hydro￭ cephal￭ us or cognitive deficits especially if not treated quickly in 2013 men￭ ing￭ i￭ tis occurred in about 16 million people worldwide this resulted in 303 000 deaths – down from 464 000 deaths in 1990 with appropriate treatment the risk of death in bacterial men￭ ing￭ i￭ tis is less than 15 outbreaks of bacterial men￭ ing￭ i￭ tis occur between december and june each year in an area of sub saharan africa known as the men￭ ing￭ i￭ tis belt smaller outbreaks may also occur in other areas of the world the word men￭ ing￭ i￭ tis is from greek μ￭ ῆ￭ ν￭ ι￭ γ￭ ξ m￭ én￭ in￭ x memb￭ rane and the medical suff￭ ix i￭ tis infl￭ amm￭ ation
ar￭ ach￭ no￭ idi￭ tis
ar￭ ach￭ no￭ idi￭ tis is an infl￭ am￭ matory condition of the ar￭ ach￭ no￭ id mat￭ er or ar￭ ach￭ no￭ id one of the memb￭ ran￭ es known as men￭ inges that surround and protect the nerves of the central nervous system including the brain and spinal cord the ar￭ ach￭ no￭ id can become infl￭ amed because of adverse reactions to chemicals infection from bacteria or viruses as the result of direct injury to the sp￭ ine chronic compression of spinal nerves complications from spinal surgery or other invasive spinal procedures or the accidental intra￭ th￭ ec￭ al injection of ster￭ oids intended for the ep￭ id￭ ural space infl￭ amm￭ ation can sometimes lead to the formation of scar tissue and adhe￭ sion that can make the spinal nerves stick together a condition where such tissue develops in and between the le￭ p￭ tom￭ en￭ inges the condition can be e
m￭ ye￭ li￭ tis
m￭ ye￭ li￭ tis involves the infection or the infl￭ amm￭ ation of the white matter or gray matter of the spinal cord which is a part of central nervous system that acts as a bridge between the brain and the rest of the body during an infl￭ am￭ matory response in the spinal cord the my￭ elin and ax￭ on may be damaged causing symptoms such as paralysis and sensory loss m￭ ye￭ li￭ tis is classified to several categories depending on the area or the cause of the le￭ sion however people often refer to any infl￭ am￭ matory attack on the spinal cord as trans￭ verse m￭ ye￭ li￭ tis
acute disseminated encephal￭ om￭ ye￭ li￭ tis
acute disseminated encephal￭ om￭ ye￭ li￭ tis ad￭ em or acute dem￭ yel￭ inating encephal￭ om￭ ye￭ li￭ tis is a rare auto￭ immune disease marked by a sudden widespread attack of infl￭ amm￭ ation in the brain and spinal cord as well as causing the brain and spinal cord to become infl￭ amed ad￭ em also attacks the nerves of the central nervous system and damages their my￭ elin insulation which as a result destroys the white matter it is often triggered after the patient has received a viral infection or perhaps exceedingly rarely specific non routine vaccinations
tropical sp￭ astic par￭ ap￭ a￭ res￭ is
tropical sp￭ astic par￭ ap￭ a￭ res￭ is t￭ sp also called ht￭ lv i associated my￭ el￭ opathy ham or ht￭ lv i associated my￭ el￭ opathy tropical sp￭ astic par￭ ap￭ a￭ res￭ is ham t￭ sp is a medical condition that causes weakness muscle sp￭ as￭ ms and sensory disturbance by human t lymp￭ ho￭ tropic virus resulting in par￭ ap￭ a￭ res￭ is weakness of the legs as the name suggests it is most common in tropical regions including the caribbean blood transfusion products are scre￭ ened for ht￭ lv 1 antibodies as a preventive measure
rasmussen s en￭ ce￭ ph￭ ali￭ tis
rasmussen s en￭ ce￭ ph￭ ali￭ tis also known as chronic focal en￭ ce￭ ph￭ ali￭ tis c￭ fe is a rare infl￭ am￭ matory neuro￭ logical disease characterized by frequent and severe seizures loss of motor skills and speech hem￭ ip￭ a￭ res￭ is paralysis on one side of the body en￭ ce￭ ph￭ ali￭ tis infl￭ amm￭ ation of the brain and dementia the illness affects a single cere￭ br￭ al hemisphere and generally occurs in children under the age of 15
bick￭ er￭ staff s en￭ ce￭ ph￭ ali￭ tis
bick￭ er￭ staff s en￭ ce￭ ph￭ ali￭ tis is a rare infl￭ am￭ matory disorder of the central nervous system first described by ed￭ win bick￭ er￭ staff in 1951 it may also affect the peripheral nervous system and has features in common with both miller fisher syndrome and guil￭ lain – bar￭ r￭ é syndrome
lim￭ bic en￭ ce￭ ph￭ ali￭ tis
lim￭ bic en￭ ce￭ ph￭ ali￭ tis is a form of en￭ ce￭ ph￭ ali￭ tis a disease characterised by infl￭ amm￭ ation of the brain lim￭ bic en￭ ce￭ ph￭ ali￭ tis is caused by auto￭ immunity an abnormal state where the body produces antibodies against itself some cases are associated with cancer and some are not although the disease is known as lim￭ bic en￭ ce￭ ph￭ ali￭ tis it is seldom limited to the lim￭ bic system and post mortem studies usually show involvement of other parts of the brain the disease was first described by bri￭ er￭ ley and others in 1960 as a series of three cases the link to cancer was first noted in 1968 and confirmed by later investigators
cere￭ br￭ al ven￭ ous sin￭ us thro￭ m￭ bo￭ sis
cere￭ br￭ al ven￭ ous sin￭ us thro￭ m￭ bo￭ sis c￭ v￭ st is the presence of acute thro￭ m￭ bo￭ sis a blood clo￭ t in the d￭ ural ven￭ ous sin￭ uses which drain blood from the brain symptoms may include headache abnormal vision any of the symptoms of stroke such as weakness of the face and limbs on one side of the body and seizures the diagnosis is usually by compu￭ ted tom￭ o￭ graphy ct cat scan or magnetic resonance imaging m￭ ri employing radio￭ contrast to demonstrate obstruction of the ven￭ ous sin￭ uses by thro￭ m￭ bus
hun￭ t￭ ington s disease
hun￭ t￭ ington s disease hd also known as hun￭ t￭ ington s cho￭ rea is an inherited disorder that results in death of brain cells the earliest symptoms are often subtle problems with mood or mental abilities a general lack of coordination and an un￭ steady ga￭ it often follow as the disease advances uncoordinated jer￭ ky body movements become more apparent physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk mental abilities generally decline into dementia the specific symptoms vary somewhat between people symptoms usually begin between 30 and 50 years of age but can start at any age the disease may develop earlier in life in each successive generation about 8 of cases start before the age of 20 years and typically present with
hun￭ t￭ ington s disease hd also known as hun￭ t￭ ington s cho￭ rea is an inherited disorder that results in death of brain cells the earliest symptoms are often subtle problems with mood or mental abilities a general lack of coordination and an un￭ steady ga￭ it often follow as the disease advances uncoordinated jer￭ ky body movements become more apparent physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk mental abilities generally decline into dementia the specific symptoms vary somewhat between people symptoms usually begin between 30 and 50 years of age but can start at any age the disease may develop earlier in life in each successive generation about 8 of cases start before the age of 20 years and typically present with symptoms more similar to par￭ kinson s disease people with hd often underestimate the degree of their problems hd is typically inherited from a person s parents with 10 of cases due to a new mutation the disease is caused by an auto￭ som￭ al dominant mutation in either of an individual s two copies of a gene called hun￭ ting￭ tin this means a child of an affected person typically has a 50 chance of inher￭ iting the disease the hun￭ ting￭ tin gene provides the genetic information for a protein that is also called hun￭ ting￭ tin expansion of ca￭ g cy￭ to￭ sine aden￭ ine gu￭ an￭ ine tri￭ p￭ let repeats in the gene coding for the hun￭ ting￭ tin protein results in an abnormal protein which gradually damages cells in the brain through mechanisms that are not fully understood diagnosis is by genetic testing which can occur at any point in time regardless of whether or not symptoms are present this fact raises several ethical debates the age at which an individual is considered mature enough to choose testing whether parents have the right to have their children tested and managing confidentiality and disclosure of test results there is no cure for hd full time care is required in the later stages of the disease treatments can relieve some symptoms and in some improve quality of life the best evidence for treatment of the movement problems is with tetr￭ ab￭ en￭ az￭ ine hd affects about 4 to 15 in 100 000 people of european descent it is rare among japanese and occurs at an unknown rate in africa the disease affects men and women equally complications such as pneumonia heart disease and physical injury from falls reduce life expectancy suicide is the cause of death in about 9 of cases death typically occurs fifteen to twenty years from when the disease was first detected the first likely description of the disease was in 18￭ 41 by charles oscar waters the condition was described in further detail in 18￭ 72 by george hun￭ t￭ ington after whom it is named the genetic basis was discovered in 1993 by an international collaborative effort led by the hereditary disease foundation research and support organizations began forming in the late 1960 s to increase public awareness to provide support for individuals and their families and to promote research current research directions include determining the exact mechanism of the disease improving animal models to aid with research testing of medications to treat symptoms or slow the progression of the disease and studying procedures such as stem cell therapy with the goal of repairing damage caused by the disease
fried￭ reich s at￭ ax￭ ia
fried￭ reich s at￭ ax￭ ia is an auto￭ som￭ al rec￭ essive inherited disease that causes progressive damage to the nervous system it manifests in initial symptoms of poor coordination such as ga￭ it disturbance it can also lead to sco￭ li￭ osis heart disease and diabetes but does not affect cognitive function the disease progres￭ ses until a wheelchair is required for mobility its incidence in the general population is roughly 1 in 50 000 the condition is named after the german physician nikol￭ aus fried￭ reich who first described it in the 18￭ 60 s
spin￭ oc￭ ere￭ bell￭ ar at￭ ax￭ ia
spin￭ oc￭ ere￭ bell￭ ar at￭ ax￭ ia s￭ ca also known as spin￭ oc￭ ere￭ bell￭ ar atro￭ phy or spin￭ oc￭ ere￭ bell￭ ar de￭ generation is a progressive degenerative genetic disease with multiple types each of which could be considered a disease in its own right an estimated 150 000 people in the united states have a diagnosis of spin￭ oc￭ ere￭ bell￭ ar at￭ ax￭ ia at any given time s￭ ca is hereditary progressive degenerative and often fatal there is no known effective treatment or cure s￭ ca can affect anyone of any age the disease is caused by either a rec￭ essive or dominant gene in many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder
beh￭ r syndrome
beh￭ r syndrome is characterized by the association of early onset op￭ tic atro￭ phy with spin￭ oc￭ ere￭ bell￭ ar de￭ generation resulting in at￭ ax￭ ia pyram￭ idal signs peripheral neuro￭ pa￭ thy and developmental delay although it is an auto￭ som￭ al rec￭ essive disorder hetero￭ zy￭ go￭ tes may still manifest much attenu￭ ated symptoms auto￭ som￭ al dominant inheritance also being reported in a family recently a variant of op￭ a 1 mutation with phen￭ o￭ typ￭ ic presentation like beh￭ r syndrome is also described some reported cases have been found to carry mutations in the op￭ a 1 op￭ a 3 or c 12 or￭ f 65 genes which are known causes of pure op￭ tic atro￭ phy or op￭ tic atro￭ phy complicated by movement disorder
spin￭ oc￭ ere￭ bell￭ ar at￭ ax￭ ia type 13
spin￭ oc￭ ere￭ bell￭ ar at￭ ax￭ ia type 13 s￭ ca 13 is a rare auto￭ som￭ al dominant disorder which like other types of s￭ ca is characterized by dys￭ ar￭ thri￭ a ny￭ stag￭ mus and at￭ ax￭ ia of ga￭ it stance and the limbs due to cere￭ bell￭ ar dysfunction patients with s￭ ca 13 also tend to present with epi￭ le￭ psy an inability to run and increased refl￭ exes this cere￭ bell￭ ar dysfunction is permanent and progressive s￭ ca 13 is caused by mutations in k￭ cn￭ c 3 a gene en￭ coding a voltage gated potassium channel kv 3 3 there are two known mutations in this gene caus￭ ative for s￭ ca 13 unlike many other types of s￭ ca these are not poly￭ glu￭ tam￭ ine expan￭ sions but rather point mutations resulting in channels with no current or altered k￭ ine￭ tics
at￭ ax￭ ia tel￭ an￭ gi￭ ec￭ ta￭ sia
at￭ ax￭ ia tel￭ an￭ gi￭ ec￭ ta￭ sia a t also referred to as louis – bar syndrome is a rare neuro￭ degenerative auto￭ som￭ al rec￭ essive disease causing severe disability at￭ ax￭ ia refers to poor coordination and tel￭ an￭ gi￭ ec￭ ta￭ sia to small dil￭ ated blood vessels both of which are hall￭ marks of the disease a t affects many parts of the body it imp￭ airs certain areas of the brain including the cere￭ bell￭ um causing difficulty with movement and coordination it weakens the immune system causing a pre￭ disposition to infection it prevents repair of broken dna increasing the risk of cancer
tel￭ an￭ gi￭ ec￭ ta￭ sia
tel￭ an￭ gi￭ ec￭ ta￭ si￭ as t￭ ɛ￭ l￭ ˌ￭ æ￭ n d￭ ʒ￭ i￭ ː ɛ￭ k￭ ˈ￭ te￭ ɪ zi ə sometimes called t lan￭ gi￭ at￭ asis also known as spider ve￭ ins or an￭ gi￭ o￭ ec￭ ta￭ si￭ as are small dil￭ ated blood vessels near the surface of the skin or mu￭ co￭ us memb￭ ran￭ es measuring between 0 5 and 1 milli￭ meter in diameter many patients who suffer with spider ve￭ ins seek the assistance of physicians who speci￭ alize in vein care or peripheral vascular disease these physicians are called vascular surgeons or ph￭ le￭ bo￭ logists more recently interventi￭ onal radio￭ logists have started treating ven￭ ous problems
hereditary sp￭ astic par￭ ap￭ legi￭ a
hereditary sp￭ astic par￭ ap￭ legi￭ a h￭ sp also known as hereditary sp￭ astic par￭ ap￭ a￭ res￭ is famili￭ al sp￭ astic par￭ ap￭ legi￭ as french settlement disease or str￭ ump￭ ell lor￭ rain disease is a group of inherited diseases whose main feature is progressive sti￭ ff￭ ness and contraction sp￭ as￭ tic￭ ity in the lower limbs as a result of damage to or dysfunction of the nerves hereditary sp￭ astic par￭ ap￭ legi￭ a was first described in 1883 by adol￭ ph str￭ ü￭ mp￭ ell a german neuro￭ logist and was later described more extensively in 18￭ 88 by maurice lor￭ rain a french physician
hereditary sp￭ astic par￭ ap￭ legi￭ a h￭ sp also known as hereditary sp￭ astic par￭ ap￭ a￭ res￭ is famili￭ al sp￭ astic par￭ ap￭ legi￭ as french settlement disease or str￭ ump￭ ell lor￭ rain disease is a group of inherited diseases whose main feature is progressive sti￭ ff￭ ness and contraction sp￭ as￭ tic￭ ity in the lower limbs as a result of damage to or dysfunction of the nerves h￭ sp is not a form of cere￭ br￭ al pal￭ sy even though it physically may appear and behave much the same as for example sp￭ astic di￭ ple￭ gia the origins of h￭ sp are entirely separate phenomena from cere￭ br￭ al pal￭ sy despite this some of the same anti sp￭ as￭ tic￭ ity medications used in sp￭ astic cere￭ br￭ al pal￭ sy are sometimes used to try to treat h￭ sp symp￭ tom￭ at￭ ology the condition sometimes also affects the op￭ tic nerve and re￭ tina of the eye causes cat￭ ar￭ acts at￭ ax￭ ia lack of muscle coordination epi￭ le￭ psy cognitive impairment peripheral neuro￭ pa￭ thy and deaf￭ ness h￭ sp is caused by defects in the mechanisms that transport proteins and other substances through the cell long nerves are affected because they have to transport cellular material through long distances and are particularly sensitive to defects of cellular transport hereditary sp￭ astic par￭ ap￭ legi￭ a was first described in 1883 by adol￭ ph str￭ ü￭ mp￭ ell a german neuro￭ logist and was later described more extensively in 18￭ 88 by maurice lor￭ rain a french physician
spinal muscular atro￭ phy
spinal muscular atro￭ phy sma also called auto￭ som￭ al rec￭ essive proxim￭ al spinal muscular atro￭ phy in order to distinguish it from other conditions with similar name – is a rare neuro￭ muscular disorder characterised by loss of motor neurons and progressive muscle wasting often leading to early death spinal muscular atro￭ phy is an inherited disorder and is passed on in an auto￭ som￭ al rec￭ essive manner as of 2016 no drugs for sma have been approved even as a number of therapeu￭ tics remain in late stage clinical trials
spinal muscular atro￭ phy sma also called auto￭ som￭ al rec￭ essive proxim￭ al spinal muscular atro￭ phy in order to distinguish it from other conditions with similar name – is a rare neuro￭ muscular disorder characterised by loss of motor neurons and progressive muscle wasting often leading to early death the disorder is caused by a genetic defect in the sm￭ n 1 gene which en￭ codes sm￭ n a protein widely expressed in all eu￭ kar￭ y￭ otic cells and necessary for survival of motor neurons lower levels of the protein results in loss of function of neuro￭ nal cells in the an￭ terior horn of the spinal cord and subsequent system wide muscle wasting atro￭ phy spinal muscular atro￭ phy manifests in various degrees of severity which all have in common progressive muscle wasting and mobility impairment proxim￭ al muscles and lung muscles are affected first other body systems may be affected as well particularly in early onset forms of the disorder sma is the most common genetic cause of infant death spinal muscular atro￭ phy is an inherited disorder and is passed on in an auto￭ som￭ al rec￭ essive manner as of 2016 no drugs for sma have been approved even as a number of therapeu￭ tics remain in late stage clinical trials
faz￭ io – lon￭ de disease
spinal and bul￭ bar muscular atro￭ phy
spinal and bul￭ bar muscular atro￭ phy s￭ b￭ ma also known as spin￭ ob￭ ul￭ bar muscular atro￭ phy bul￭ bo spinal atro￭ phy x linked bul￭ bo￭ spinal neuro￭ pa￭ thy x￭ bs￭ n x linked spinal muscular atro￭ phy type 1 s￭ max 1 kennedy s disease k￭ d and many other names is a deb￭ il￭ itating neuro￭ degenerative disorder resulting in muscle cram￭ ps and progressive weakness due to de￭ generation of motor neurons in the brain stem and spinal cord this condition is rare with an estimated incidence of 1 40 000 males although this condition is not normally fatal eventually 20 of those affected may need a wheelchair
am￭ yo￭ troph￭ ic lateral sclerosis
am￭ yo￭ troph￭ ic lateral sclerosis als also known as lou ge￭ h￭ rig s disease and motor neuro￭ ne disease m￭ nd is a specific disease that causes the death of neurons which control voluntary muscles some also use the term motor ne￭ uron disease for a group of conditions of which als is the most common als is characterized by stiff muscles muscle tw￭ it￭ ching and gradually worsening weakness due to muscles decreasing in size this results in difficulty in speaking sw￭ allowing and eventually breathing
par￭ kinson s disease
par￭ kinson s disease pd is a long term disorder of the central nervous system that mainly affects the motor system the symptoms generally come on slowly over time early in the disease the most obvious are shaking rigidity slowness of movement and difficulty with walking thinking and behavioral problems may also occur dementia becomes common in the advanced stages of the disease depression and anxiety are also common occurring in more than a third of people with pd other symptoms include sensory sleep and emotional problems the main motor symptoms are collectively called par￭ k￭ ins￭ on￭ ism or a par￭ k￭ ins￭ onian syndrome
par￭ kinson s disease pd is a long term disorder of the central nervous system that mainly affects the motor system the symptoms generally come on slowly over time early in the disease the most obvious are shaking rigidity slowness of movement and difficulty with walking thinking and behavioral problems may also occur dementia becomes common in the advanced stages of the disease depression and anxiety are also common occurring in more than a third of people with pd other symptoms include sensory sleep and emotional problems the main motor symptoms are collectively called par￭ k￭ ins￭ on￭ ism or a par￭ k￭ ins￭ onian syndrome the cause of par￭ kinson s disease is generally unknown but believed to involve both genetic and environmental factors those with a family member affected are more likely to get the disease themselves there is also an increased risk in people exposed to certain pesticides and among those who have had prior head injuries while there is a reduced risk in tobacco smokers and those who drink coffee or tea the motor symptoms of the disease result from the death of cells in the substan￭ tia ni￭ gra a region of the mid￭ brain this results in not enough dop￭ amine in these areas the reason for this cell death is poorly understood but involves the build up of proteins into lew￭ y bodies in the neurons diagnosis of typical cases is mainly based on symptoms with tests such as neuro￭ imaging being used to rule out other diseases there is no cure for par￭ kinson s disease initial treatments is typically with the anti￭ par￭ kinson medication le￭ vo￭ dop￭ a with dop￭ amine agon￭ ists being used once le￭ vo￭ dop￭ a becomes less effective as the disease progres￭ ses and neurons continue to be lost these medications become less effective while at the same time they produce a complic￭ ation marked by involuntary w￭ ri￭ thing movements diet and some forms of rehabilitation have shown some effectiveness at improving symptoms surgery to place the micro￭ electro￭ des for deep brain stimulation has been used to reduce motor symptoms in severe cases where drugs are ineffective evidence for treatments for the non movement related symptoms of pd such as sleep disturbances and emotional problems is less strong in 2013 pd was present in 53 million people and resulted in about 103 000 deaths globally par￭ kinson s disease typically occurs in people over the age of 60 of which about one percent are affected males are more often affected than females when it is seen in people before the age of 40 or 50 it is called young onset pd the average life expectancy following diagnosis is between 7 and 14 years the disease is named after the english doctor james par￭ kinson who published the first detailed description in an essay on the shaking pal￭ sy in 18￭ 17 public awareness campaigns include world par￭ kinson s day on the birthday of james par￭ kinson 11 april and the use of a red tu￭ lip as the symbol of the disease people with par￭ k￭ ins￭ on￭ ism who have increased the public s awareness of the condition include actor michael j fox olympic cycl￭ ist davis ph￭ in￭ ney and late professional box￭ er muhammad ali
neuro￭ le￭ ptic m￭ align￭ ant syndrome
neuro￭ le￭ ptic m￭ align￭ ant syndrome n￭ ms is a life threatening neuro￭ logical disorder most often caused by an adverse reaction to neuro￭ le￭ ptic or anti￭ psychotic drugs n￭ ms typically consists of muscle rigidity fever autonom￭ ic instability and cognitive changes such as deli￭ ri￭ um and is associated with elevated plasma cre￭ at￭ ine phosp￭ ho￭ kin￭ ase the incidence of neuro￭ le￭ ptic m￭ align￭ ant syndrome has decreased since it was first described due to changes in prescribing habits but n￭ ms is still a potential danger to patients being treated with anti￭ psychotic medication because of the un￭ predictability of n￭ ms treatment may vary substantially but is generally based on supportive care and removal of the offending anti￭ psychotic drug
ak￭ ath￭ is￭ ia
ak￭ ath￭ is￭ ia is a movement disorder characterized by a feeling of inner rest￭ lessness and a compelling need to be in constant motion as well as by actions such as roc￭ king while standing or sitting lifting the feet as if marching on the spot and crossing and un￭ crossing the legs while sitting people with ak￭ ath￭ is￭ ia are unable to sit or keep still complain of rest￭ lessness fi￭ d￭ get rock from foot to foot and pace the term was coined by the czech neuro￭ psychiatrist lad￭ islav has￭ kov￭ ec 18￭ 66 – 1944 who described the phenomenon in 19￭ 01
pan￭ to￭ th￭ en￭ ate kin￭ ase associated neuro￭ de￭ generation
pan￭ to￭ th￭ en￭ ate kin￭ ase associated neuro￭ de￭ generation p￭ kan also known as neuro￭ de￭ generation with brain iron accumulation 1 n￭ bia 1 and formerly called hall￭ er￭ v￭ orden – sp￭ atz syndrome use of this ep￭ on￭ ym is somewhat discouraged due to hall￭ er￭ v￭ orden and sp￭ atz s affiliation with the nazi regime and the ethically questionable manner in which they acted is a degenerative disease of the brain that can lead to par￭ k￭ ins￭ on￭ ism dy￭ st￭ onia dementia and ultimately death neuro￭ de￭ generation in p￭ kan is accompanied by an excess of iron that progressively builds up in the brain
progressive supran￭ uc￭ lear pal￭ sy
progressive supran￭ uc￭ lear pal￭ sy p￭ sp or the st￭ ee￭ le ric￭ hard￭ son ol￭ sze￭ wski syndrome after the physicians who described it in 1963 is a degenerative disease involving the gradual deterioration and death of specific volumes of the brain males and females are affected approximately equally and there is no racial geographical or occupational pre￭ dil￭ ection approximately 6 people per 100 000 population have p￭ sp it has been described as a tau￭ opathy
fa￭ hr s syndrome
idi￭ opathic bas￭ al gang￭ lia calci￭ fication also known as fa￭ hr disease is a rare genetically dominant inherited neuro￭ logical disorder characterized by abnormal deposits of calcium in areas of the brain that control movement through the use of ct sc￭ ans calci￭ fications are seen primarily in the bas￭ al gang￭ lia and in other areas such as the cere￭ br￭ al cor￭ tex
oli￭ v￭ op￭ on￭ to￭ cere￭ bell￭ ar atro￭ phy
oli￭ v￭ op￭ on￭ to￭ cere￭ bell￭ ar atro￭ phy op￭ ca is the de￭ generation of neurons in specific areas of the brain – the cere￭ bell￭ um p￭ ons and inferior olives op￭ ca is present in several neuro￭ degenerative syndro￭ mes including inherited and non inherited forms of at￭ ax￭ ia such as the hereditary spin￭ oc￭ ere￭ bell￭ ar at￭ ax￭ ia known as mach￭ ado – joseph disease and multiple system atro￭ phy m￭ sa with which it is primarily associated the term was originally coined by joseph jules de￭ jer￭ ine and andré thomas
tar￭ dive dy￭ sk￭ ine￭ sia
tar￭ dive dy￭ sk￭ ine￭ sia td is a difficult to treat and often incur￭ able form of dy￭ sk￭ ine￭ sia a disorder resulting in involuntary repeti￭ tive body movements in this form of dy￭ sk￭ ine￭ sia the involuntary movements are tar￭ dive meaning they have a slow or belated onset this neuro￭ logical disorder by definition most frequently occurs as the result of long term usually at least 3 months duration or high dose use of anti￭ psychotic drugs or in children and infants as a side effect from usage of drugs for gastro￭ intest￭ inal disorders
tor￭ sion dy￭ st￭ onia
tor￭ sion dy￭ st￭ onia also known as dy￭ st￭ onia mus￭ cul￭ orum de￭ form￭ ans is a disease characterized by painful muscle contr￭ actions resulting in uncontrollable distortions this specific type of dy￭ st￭ onia is frequently found in children with symptoms starting around the ages of 11 or 12 it commonly begins with contr￭ actions in one general area such as an arm or a leg that continue to progress throughout the rest of the body it takes roughly 5 years for the symptoms to completely progress to a deb￭ il￭ itating state
dop￭ amine responsive dy￭ st￭ onia
dop￭ amine responsive dy￭ st￭ onia dr￭ d also known as hereditary progressive dy￭ st￭ onia with di￭ ur￭ nal fluctuation seg￭ awa s disease or seg￭ awa s dy￭ st￭ onia is a genetic movement disorder which usually manifests itself during early childhood at around ages 5 – 8 years variable start age
me￭ i￭ ge s syndrome
me￭ i￭ ge s syndrome is a type of dy￭ st￭ onia it is also known as bru￭ e￭ gh￭ el s syndrome and oral facial dy￭ st￭ onia it is actually a combination of two forms of dy￭ st￭ onia ble￭ phar￭ o￭ sp￭ asm and or￭ om￭ andi￭ bul￭ ar dy￭ st￭ onia om￭ d
ble￭ phar￭ o￭ sp￭ asm
ble￭ phar￭ o￭ sp￭ asm is any abnormal contraction or tw￭ itch of the eye￭ lid in most cases symptoms last for a few days then disappear without treatment but sometimes the tw￭ it￭ ching is chronic and persistent causing lifelong challenges in those rare cases the symptoms are often severe enough to result in functional blindness the person s eye￭ li￭ ds feel like they are clam￭ ping shut and will not open without great effort people have normal eyes but for periods of time are effectively blind due to their inability to open their eye￭ li￭ ds in contrast the reflex ble￭ phar￭ o￭ sp￭ asm is due to any pain in and around the eye
dy￭ st￭ onia
dy￭ st￭ onia is a neuro￭ logical movement disorder syndrome in which sustained or repeti￭ tive muscle contr￭ actions result in tw￭ isting and repeti￭ tive movements or abnormal fixed post￭ ures the movements may resemble a trem￭ or dy￭ st￭ onia is often intensified or exacerbated by physical activity and symptoms may progress into adjacent muscles
my￭ o￭ cl￭ onus
my￭ o￭ cl￭ onus is a brief involuntary tw￭ it￭ ching of a muscle or a group of muscles it describes a medical sign and generally is not a diagnosis of a disease these my￭ o￭ cl￭ onic tw￭ it￭ ches jer￭ ks or seizures are usually caused by sudden muscle contr￭ actions positive my￭ o￭ cl￭ onus or brief lapses of contraction negative my￭ o￭ cl￭ onus the most common circumstance under which they occur is while falling asleep hyp￭ nic jerk my￭ o￭ cl￭ onic jer￭ ks occur in healthy persons and are experienced occasionally by everyone however when they appear with more persistence and become more widespread they can be a sign of various neuro￭ logical disorders hic￭ cups are a kind of my￭ o￭ cl￭ onic jerk specifically affecting the di￭ aphr￭ ag￭ m when a sp￭ asm is caused by another person it is known as a provoked sp￭ asm sh￭ ud￭ dering attacks i
my￭ o￭ cl￭ onus is a brief involuntary tw￭ it￭ ching of a muscle or a group of muscles it describes a medical sign and generally is not a diagnosis of a disease these my￭ o￭ cl￭ onic tw￭ it￭ ches jer￭ ks or seizures are usually caused by sudden muscle contr￭ actions positive my￭ o￭ cl￭ onus or brief lapses of contraction negative my￭ o￭ cl￭ onus the most common circumstance under which they occur is while falling asleep hyp￭ nic jerk my￭ o￭ cl￭ onic jer￭ ks occur in healthy persons and are experienced occasionally by everyone however when they appear with more persistence and become more widespread they can be a sign of various neuro￭ logical disorders hic￭ cups are a kind of my￭ o￭ cl￭ onic jerk specifically affecting the di￭ aphr￭ ag￭ m when a sp￭ asm is caused by another person it is known as a provoked sp￭ asm sh￭ ud￭ dering attacks in babies fall in this category my￭ o￭ cl￭ onic jer￭ ks may occur alone or in sequence in a pattern or without pattern they may occur inf￭ requ￭ ently or many times each minute most often my￭ o￭ cl￭ onus is one of several signs in a wide variety of nervous system disorders such as multiple sclerosis par￭ kinson s disease dy￭ st￭ onia alzheimer s disease gau￭ cher s disease sub￭ acute s￭ cl￭ ero￭ sing pan￭ en￭ ce￭ ph￭ ali￭ tis creutz￭ feldt – jakob disease cjd sero￭ ton￭ in toxicity some cases of hun￭ t￭ ington s disease some forms of epi￭ le￭ psy and occasionally in in￭ trac￭ ran￭ ial hypo￭ tension some researchers indicate that jer￭ ks persistently may even cause early tre￭ mors in almost all instances in which my￭ o￭ cl￭ onus is caused by central nervous system disease it is preceded by other symptoms for instance in cjd it is generally a late stage clinical feature that appears after the patient has already started to exhibit gross neuro￭ logical deficits anatom￭ ically my￭ o￭ cl￭ onus may originate from le￭ sions of the cor￭ tex sub￭ cor￭ tex or spinal cord the presence of my￭ o￭ cl￭ onus above the for￭ amen magn￭ um effectively excludes spinal my￭ o￭ cl￭ onus further loc￭ alisation relies on further investigation with electro￭ my￭ o￭ graphy em￭ g and electro￭ encephal￭ o￭ graphy eeg
cho￭ rea
cho￭ rea or cho￭ re￭ ia occasionally is an abnormal involuntary movement disorder one of a group of neuro￭ logical disorders called dy￭ sk￭ ine￭ si￭ as the term cho￭ rea is derived from the greek word χορ￭ εί￭ α dance see cho￭ re￭ ia as the quick movements of the feet or hands are comparable to dancing the term hemic￭ ho￭ rea refers to cho￭ rea of one side of the body such as cho￭ rea of one arm but not both analogous to hem￭ i￭ bal￭ lis￭ mus
rest￭ less legs syndrome
rest￭ less legs syndrome r￭ ls is a disorder that causes a strong urge to move one s legs there is often an unpleasant feeling in the legs that improves somewhat with moving them occasionally the arms may also be affected the feelings generally happen when at rest and therefore can make it hard to sleep due to the disturbance in sleep people with r￭ ls may have day￭ time sleep￭ iness low energy irrit￭ ability and a depressed mood additionally many have limb tw￭ it￭ ching during sleep
rest￭ less legs syndrome r￭ ls is a disorder that causes a strong urge to move one s legs there is often an unpleasant feeling in the legs that improves somewhat with moving them occasionally the arms may also be affected the feelings generally happen when at rest and therefore can make it hard to sleep due to the disturbance in sleep people with r￭ ls may have day￭ time sleep￭ iness low energy irrit￭ ability and a depressed mood additionally many have limb tw￭ it￭ ching during sleep risk factors for r￭ ls include low iron levels kidney failure par￭ kinson disease diabetes r￭ heu￭ mato￭ id ar￭ thri￭ tis and pregnancy a number of medications may also trigger the disorder including anti￭ depres￭ s￭ ants anti￭ psycho￭ tics anti￭ hist￭ am￭ ines and calcium channel bloc￭ kers there are two main types one is early onset r￭ ls which starts before age 45 runs in families and wor￭ sens over time the other is late onset r￭ ls which begins after age 45 starts suddenly and does not worsen diagnosis is generally based on a person s symptoms after ruling out other potential causes rest￭ less leg syndrome may resolve if the underlying problem is addressed otherwise treatment includes lifestyle changes and medication lifestyle changes that may help include stopping alcohol and tobacco and sleep hygiene medications used include le￭ vo￭ dop￭ a or a dop￭ amine agon￭ ist such as pr￭ am￭ ip￭ ex￭ ole r￭ ls affects an estimated 2 5 – 15 of the american population females are more commonly affected than males and it becomes more common with age
stiff person syndrome
stiff person syndrome sps also known as stiff man syndrome s￭ ms is a rare neuro￭ logic disorder of unclear eti￭ ology characterized by progressive rigidity and sti￭ ff￭ ness the sti￭ ff￭ ness primarily affects the trun￭ cal muscles and is super￭ imposed by sp￭ as￭ ms resulting in post￭ ural de￭ form￭ ities chronic pain impaired mobility and lum￭ bar hyper￭ lor￭ do￭ sis are common symptoms
hyper￭ ek￭ plex￭ ia
hyper￭ ek￭ plex￭ ia exaggerated surprise is a neuro￭ logic disorder class￭ ically characterised by pronounced star￭ tle responses to t￭ acti￭ le or acous￭ tic stimul￭ i and hyper￭ ton￭ ia the hyper￭ ton￭ ia may be predominantly trun￭ cal attenu￭ ated during sleep and less prominent after a year of age classic hyper￭ ek￭ plex￭ ia is caused by genetic mutations in a number of different genes all of which play an important role in gly￭ cine neuro￭ transmission gly￭ cine is used by the central nervous system as an inhi￭ bit￭ ory neuro￭ transmitter hyper￭ ek￭ plex￭ ia is generally classified as a genetic disease but some disorders can mim￭ ic the exaggerated star￭ tle of hyper￭ ek￭ plex￭ ia
alzheimer s disease
alzheimer s disease ad also known as just alzheimer s is a chronic neuro￭ degenerative disease that usually starts slowly and gets worse over time it is the cause of 60 to 70 of cases of dementia the most common early symptom is difficulty in remembering recent events short term memory loss as the disease advances symptoms can include problems with language dis￭ orientation including easily getting lost mood swings loss of motivation not managing self care and behavi￭ our￭ al issues as a person s condition declines they often withdraw from family and society gradually bodily functions are lost ultimately leading to death although the speed of progression can vary the average life expectancy following diagnosis is three to nine years
alzheimer s disease ad also known as just alzheimer s is a chronic neuro￭ degenerative disease that usually starts slowly and gets worse over time it is the cause of 60 to 70 of cases of dementia the most common early symptom is difficulty in remembering recent events short term memory loss as the disease advances symptoms can include problems with language dis￭ orientation including easily getting lost mood swings loss of motivation not managing self care and behavi￭ our￭ al issues as a person s condition declines they often withdraw from family and society gradually bodily functions are lost ultimately leading to death although the speed of progression can vary the average life expectancy following diagnosis is three to nine years the cause of alzheimer s disease is poorly understood about 70 of the risk is believed to be genetic with many genes usually involved other risk factors include a history of head injuries depression or hyper￭ tension the disease process is associated with pl￭ aqu￭ es and tang￭ les in the brain a probable diagnosis is based on the history of the illness and cognitive testing with medical imaging and blood tests to rule out other possible causes initial symptoms are often mistaken for normal ageing examination of brain tissue is needed for a definite diagnosis mental and physical exercise and avoiding obesity may decrease the risk of ad there are no medications or supplements that decrease risk no treatments stop or reverse its progression though some may temporarily improve symptoms affected people increasingly rely on others for assistance often placing a burden on the ca￭ reg￭ i￭ ver the pressures can include social psychological physical and economic elements exercise programmes are beneficial with respect to activities of daily living and can potentially improve outcomes treatment of behavi￭ our￭ al problems or psycho￭ sis due to dementia with anti￭ psycho￭ tics is common but not usually recommended due to there often being little benefit and an increased risk of early death in 2015 there were approximately 48 million people worldwide with ad it most often begins in people over 65 years of age although 4 to 5 of cases are early onset alzheimer s which begin before this it affects about 6 of people 65 years and older in 2010 dementia resulted in about 486 000 deaths it was first described by and later named after german psychiatrist and patho￭ logist alo￭ is alzheimer in 1906 in developed countries ad is one of the most financially costly diseases
neuro￭ de￭ generation
neuro￭ de￭ generation is the umbrella term for the progressive loss of structure or function of neurons including death of neurons many neuro￭ degenerative diseases including am￭ yo￭ troph￭ ic lateral sclerosis par￭ kinson s alzheimer s and hun￭ t￭ ington s occur as a result of neuro￭ degenerative processes such diseases are incur￭ able resulting in progressive de￭ generation and or death of ne￭ uron cells as research progres￭ ses many similarities appear that relate these diseases to one another on a sub cellular level discovering these similarities offers hope for therapeutic advances that could amelior￭ ate many diseases simultaneously there are many parallels between different neuro￭ degenerative disorders including atypical protein assemblies as well as induced cell death neuro￭ de￭ generation can be found i
neuro￭ de￭ generation is the umbrella term for the progressive loss of structure or function of neurons including death of neurons many neuro￭ degenerative diseases including am￭ yo￭ troph￭ ic lateral sclerosis par￭ kinson s alzheimer s and hun￭ t￭ ington s occur as a result of neuro￭ degenerative processes such diseases are incur￭ able resulting in progressive de￭ generation and or death of ne￭ uron cells as research progres￭ ses many similarities appear that relate these diseases to one another on a sub cellular level discovering these similarities offers hope for therapeutic advances that could amelior￭ ate many diseases simultaneously there are many parallels between different neuro￭ degenerative disorders including atypical protein assemblies as well as induced cell death neuro￭ de￭ generation can be found in many different levels of neuro￭ nal circu￭ it￭ ry ranging from molecular to systemic
pick s disease
pick s disease a type of fron￭ to￭ temporal dementia is a rare neuro￭ degenerative disease that causes progressive destruction of nerve cells in the brain symptoms include dementia and loss of language ap￭ ha￭ sia while some of the symptoms can initially be allevi￭ ated the disease progres￭ ses and patients often die within two to ten years a defining characteristic of the disease is build up of ta￭ u proteins in neurons accumulating into silver stain￭ ing spher￭ ical aggreg￭ ations known as pick bodies
pick s disease a type of fron￭ to￭ temporal dementia is a rare neuro￭ degenerative disease that causes progressive destruction of nerve cells in the brain symptoms include dementia and loss of language ap￭ ha￭ sia while some of the symptoms can initially be allevi￭ ated the disease progres￭ ses and patients often die within two to ten years a defining characteristic of the disease is build up of ta￭ u proteins in neurons accumulating into silver stain￭ ing spher￭ ical aggreg￭ ations known as pick bodies while the term pick s disease was once used to represent a class of clinical syndro￭ mes with symptoms attributable to frontal and temporal lo￭ be dysfunction it is now used among professionals to mean a specific path￭ ology that is one of the causes of fron￭ to￭ temporal lob￭ ar de￭ generation some people use the term pick s disease to mean the more general clinical syndrome of fron￭ to￭ temporal lob￭ ar de￭ generation but this has previously led to confusion among professionals and patients and so its use should be restricted to the specific pathological subtype described below it is also known as pick disease and pid not to be confused with pel￭ vic infl￭ am￭ matory disease pid or par￭ kinson s disease pd
dementia with lew￭ y bodies
dementia with lew￭ y bodies d￭ lb is a type of dementia that gradually wor￭ sens over time additional symptoms may include fluctuations in aler￭ tness seeing things that other people do not slowness of movement trouble walking and rigidity excessive movement during sleep and mood changes such as depression are also common
le￭ igh disease
le￭ igh disease is a rare inherited neuro￭ metabol￭ ic disorder that affects the central nervous system it is named after archi￭ bald den￭ is le￭ igh a british neuro￭ psychiatrist who first described the condition in 1951
a￭ ic￭ ardi – gou￭ ti￭ ères syndrome
a￭ ic￭ ardi – gou￭ ti￭ ères syndrome ags which is completely distinct from the similarly named a￭ ic￭ ardi syndrome is a rare usually early onset childhood infl￭ am￭ matory disorder most typically affecting the brain and the skin neuro￭ developmental disorder the majority of affected individuals experience significant intellectual and physical problems although this is not always the case the clinical features of ags can mim￭ ic those of in uter￭ o acquired infection and some characteristics of the condition also overlap with the auto￭ immune disease systemic lup￭ us er￭ y￭ them￭ ato￭ sus s￭ le following an original description of eight cases in 1984 the condition was first referred to as a￭ ic￭ ardi – gou￭ ti￭ ères syndrome ags in 1992 and the first international meeting on ags was held in p￭ avia italy in 2001
a￭ ic￭ ardi – gou￭ ti￭ ères syndrome ags which is completely distinct from the similarly named a￭ ic￭ ardi syndrome is a rare usually early onset childhood infl￭ am￭ matory disorder most typically affecting the brain and the skin neuro￭ developmental disorder the majority of affected individuals experience significant intellectual and physical problems although this is not always the case the clinical features of ags can mim￭ ic those of in uter￭ o acquired infection and some characteristics of the condition also overlap with the auto￭ immune disease systemic lup￭ us er￭ y￭ them￭ ato￭ sus s￭ le following an original description of eight cases in 1984 the condition was first referred to as a￭ ic￭ ardi – gou￭ ti￭ ères syndrome ags in 1992 and the first international meeting on ags was held in p￭ avia italy in 2001 ags can occur due to mutations in any one of a number of different genes of which seven have been identified to date namely tre￭ x 1 r￭ nas￭ eh 2 a r￭ nas￭ eh 2 b r￭ nas￭ eh 2 c which together en￭ code for the ri￭ bon￭ uc￭ lease h 2 enzyme complex sam￭ hd 1 ad￭ ar 1 and i￭ fi￭ h 1 coding for m￭ da 5 this neuro￭ logical disease occurs in all populations worldwide although it is almost certainly under diagnosed to date 2014 at least 400 cases of ags are known
alp￭ ers disease
mer￭ r￭ f syndrome
sub￭ acute combined de￭ generation of spinal cord
sub￭ acute combined de￭ generation of spinal cord also known as lich￭ the￭ im s disease refers to de￭ generation of the poster￭ ior and lateral columns of the spinal cord as a result of vitamin b 12 deficiency most common vitamin e deficiency and copper deficiency it is usually associated with pernicious an￭ emia
multiple sclerosis
multiple sclerosis ms is a dem￭ yel￭ inating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged this damage disrup￭ ts the ability of parts of the nervous system to communicate resulting in a range of signs and symptoms including physical mental and sometimes psychiatric problems specific symptoms can include double vision blindness in one eye muscle weakness trouble with sensation or trouble with coordination ms takes several forms with new symptoms either occurring in isolated attacks relap￭ sing forms or building up over time progressive forms between attacks symptoms may disappear completely however permanent neuro￭ logical problems often remain especially as the disease advances
multiple sclerosis ms is a dem￭ yel￭ inating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged this damage disrup￭ ts the ability of parts of the nervous system to communicate resulting in a range of signs and symptoms including physical mental and sometimes psychiatric problems specific symptoms can include double vision blindness in one eye muscle weakness trouble with sensation or trouble with coordination ms takes several forms with new symptoms either occurring in isolated attacks relap￭ sing forms or building up over time progressive forms between attacks symptoms may disappear completely however permanent neuro￭ logical problems often remain especially as the disease advances while the cause is not clear the underlying mechanism is thought to be either destruction by the immune system or failure of the my￭ elin producing cells proposed causes for this include genetics and environmental factors such as being triggered by a viral infection ms is usually diagnosed based on the presenting signs and symptoms and the results of supporting medical tests there is no known cure for multiple sclerosis treatments attempt to improve function after an attack and prevent new attacks medications used to treat ms while modestly effective can have side effects and be poorly tolerated physical therapy can help with people s ability to function many people pursue alternative treatments despite a lack of evidence the long term outcome is difficult to predict with good outcomes more often seen in women those who develop the disease early in life those with a relap￭ sing course and those who initially experienced few attacks life expectancy is on average 5 to 10 years lower than that of an unaffected population multiple sclerosis is the most common auto￭ immune disorder affecting the central nervous system in 2013 about 2 3 million people were affected globally with rates varying widely in different regions and among different populations that year about 20 000 people died from ms up from 12 000 in 1990 the disease usually begins between the ages of 20 and 50 and is twice as common in women as in men ms was first described in 1868 by jean martin char￭ cot the name multiple sclerosis refers to the numerous scars s￭ cler￭ ae — better known as pl￭ aqu￭ es or le￭ sions that develop on the white matter of the brain and spinal cord a number of new treatments and diagnostic methods are under development
dem￭ yel￭ inating disease
a dem￭ yel￭ inating disease is any disease of the nervous system in which the my￭ elin she￭ ath of neurons is damaged this damage imp￭ airs the conduc￭ tion of signals in the affected nerves in turn the reduction in conduc￭ tion ability causes deficiency in sensation movement cogn￭ ition or other functions depending on which nerves are involved some dem￭ yel￭ inating diseases are caused by genetics some by infectious agents some by auto￭ immune reactions some by exposure to chemical agents and some by unknown factors vitamin b 12 deficiency can cause dem￭ yel￭ ination
a dem￭ yel￭ inating disease is any disease of the nervous system in which the my￭ elin she￭ ath of neurons is damaged this damage imp￭ airs the conduc￭ tion of signals in the affected nerves in turn the reduction in conduc￭ tion ability causes deficiency in sensation movement cogn￭ ition or other functions depending on which nerves are involved some dem￭ yel￭ inating diseases are caused by genetics some by infectious agents some by auto￭ immune reactions and some by unknown factors organ￭ op￭ hosp￭ hates a class of chemicals which are the active ingredients in commercial insectic￭ ides such as sheep dip weed killers and fle￭ a treatment preparations for pets etc will also dem￭ yel￭ inate nerves neuro￭ le￭ p￭ tics can also cause dem￭ yel￭ ination dem￭ yel￭ inating diseases are traditionally classified in two kinds dem￭ yel￭ inating my￭ el￭ ino￭ cl￭ astic diseases and dem￭ yel￭ inating leuko￭ dy￭ stro￭ ph￭ ic diseases in the first group a normal and healthy my￭ elin is destroyed by a toxic chemical or auto￭ immune substance in the second group my￭ elin is abnormal and de￭ generates the second group was denominated dy￭ sm￭ yel￭ inating diseases by pos￭ er in the most known example multiple sclerosis there is good evidence that the body s own immune system is at least partially responsible acquired immune system cells called t cells are known to be present at the site of le￭ sions other immune system cells called macro￭ p￭ ha￭ ges and possibly m￭ ast cells as well also contribute to the damage some dem￭ yel￭ inating diseases are caused by genetics some by infectious agents some by auto￭ immune reactions some by exposure to chemical agents and some by unknown factors vitamin b 12 deficiency can cause dem￭ yel￭ ination
neuro￭ m￭ ye￭ li￭ tis op￭ tica
neuro￭ m￭ ye￭ li￭ tis op￭ tica n￭ mo also known as dev￭ ic s disease or dev￭ ic s syndrome is a heterogeneous condition consisting of the simultaneous infl￭ amm￭ ation and dem￭ yel￭ ination of the op￭ tic nerve op￭ tic ne￭ uri￭ tis and the spinal cord m￭ ye￭ li￭ tis it can be mon￭ op￭ has￭ ic or recurrent although infl￭ amm￭ ation may also affect the brain the le￭ sions are different from those observed in the related condition multiple sclerosis spinal cord le￭ sions lead to varying degrees of weakness or paralysis in the legs or arms loss of sensation including blindness and or blad￭ der and bo￭ wel dysfunction
central pon￭ tine my￭ el￭ in￭ ol￭ ysis
central pon￭ tine my￭ el￭ in￭ ol￭ ysis c￭ pm also known as os￭ mo￭ tic dem￭ yel￭ ination syndrome or central pon￭ tine dem￭ yel￭ ination is a neuro￭ logical disease caused by severe damage of the my￭ elin she￭ ath of nerve cells in the bra￭ inst￭ em more precisely in the area termed the p￭ ons predomin￭ ately of i￭ atro￭ genic eti￭ ology it is characterized by acute paralysis dy￭ sp￭ ha￭ gia difficulty sw￭ allowing and dys￭ ar￭ thri￭ a difficulty speaking and other neuro￭ logical symptoms
central pon￭ tine my￭ el￭ in￭ ol￭ ysis c￭ pm also known as os￭ mo￭ tic dem￭ yel￭ ination syndrome or central pon￭ tine dem￭ yel￭ ination is a neuro￭ logical disease caused by severe damage of the my￭ elin she￭ ath of nerve cells in the bra￭ inst￭ em more precisely in the area termed the p￭ ons predomin￭ ately of i￭ atro￭ genic eti￭ ology it is characterized by acute paralysis dy￭ sp￭ ha￭ gia difficulty sw￭ allowing and dys￭ ar￭ thri￭ a difficulty speaking and other neuro￭ logical symptoms central pon￭ tine my￭ el￭ in￭ ol￭ ysis was first described by ad￭ ams et al in 1958 as a cl￭ ini￭ cop￭ ath￭ ological entity the original paper described four cases with fatal outcomes and the findings on autopsy the ae￭ ti￭ ology was not known then but the authors suspected the cause to be either a toxin or a nutritional deficiency ‘ central pon￭ tine ’ indicated the site of the le￭ sion and ‘ my￭ el￭ in￭ ol￭ ysis ’ was used to emphasise that my￭ elin was affected prefer￭ entially compared to the other neuro￭ nal elements the authors intentionally avoided the term ‘ dem￭ yel￭ ination ’ to describe the condition in order to differentiate the path￭ ology of this condition from multiple sclerosis and other neuro￭ infl￭ am￭ matory disorders in which my￭ elin loss is associated with infl￭ amm￭ ation it can also occur outside the p￭ ons the term os￭ mo￭ tic dem￭ yel￭ ination syndrome is similar to central pon￭ tine my￭ el￭ in￭ ol￭ ysis but also includes areas outside the p￭ ons central pon￭ tine my￭ el￭ in￭ ol￭ ysis presents most commonly as a complic￭ ation of treatment of patients with profound life threatening hy￭ pon￭ at￭ re￭ mia low sodium it occurs as a consequence of a rapid rise in serum ton￭ icity following treatment in individuals with chronic severe hy￭ pon￭ at￭ re￭ mia who have made in￭ trac￭ ell￭ ular adaptations to the prevailing hy￭ pot￭ on￭ icity hy￭ pon￭ at￭ re￭ mia should be corrected at a rate of no more than 8 12 m￭ mol l of sodium per day to prevent central pon￭ tine my￭ el￭ in￭ ol￭ ysis although less common it may also present in patients with a history of chronic alcoholism or other conditions related to decreased liver function in these cases the condition is often unrelated to correction of sodium or electro￭ ly￭ te imbalance
trans￭ verse m￭ ye￭ li￭ tis
trans￭ verse m￭ ye￭ li￭ tis is a neuro￭ logical condition in which the spinal cord is infl￭ amed the infl￭ amm￭ ation damages nerve fi￭ bers and causes them to lose their my￭ elin coating leading to decreased electrical conduc￭ tivity in the central nervous system trans￭ verse implies that the infl￭ amm￭ ation extends across the entire width of the spinal cord partial trans￭ verse m￭ ye￭ li￭ tis and partial m￭ ye￭ li￭ tis are terms used to define infl￭ amm￭ ation of the spinal cord that affects part of the width of the spinal cord
bal￭ o concentr￭ ic sclerosis
bal￭ o concentr￭ ic sclerosis is a disease in which the white matter of the brain appears damaged in concentr￭ ic layers leaving the axis cylinder intact it was described by jo￭ sz￭ ef bal￭ o who initially named it leuk￭ o en￭ ce￭ ph￭ ali￭ tis peri￭ ax￭ i￭ alis concentr￭ ica from the previous definition and it is currently considered one of the borderline forms of multiple sclerosis
bal￭ o concentr￭ ic sclerosis is a disease in which the white matter of the brain appears damaged in concentr￭ ic layers leaving the axis cylinder intact it was described by jo￭ sz￭ ef bal￭ o who initially named it leuk￭ o en￭ ce￭ ph￭ ali￭ tis peri￭ ax￭ i￭ alis concentr￭ ica from the previous definition and it is currently considered one of the borderline forms of multiple sclerosis bal￭ o concentr￭ ic sclerosis is a dem￭ yel￭ inating disease similar to standard multiple sclerosis but with the particul￭ arity that the dem￭ yel￭ inated tissues form concentr￭ ic layers scientists used to believe that the prog￭ no￭ sis was similar to mar￭ burg multiple sclerosis but now they know that patients can survive or even have spontaneous remission and as￭ ymp￭ tomatic cases it is also common that the clinical course is primary progressive but a relap￭ sing re￭ mitting course has been reported it seems that the course gets better with pred￭ nis￭ one therapy although evidence of this is anec￭ do￭ tal and such conclusions are difficult to accept given that there are cases where patients spontaneously recover whether the patient was on ster￭ o￭ id therapy or not
epi￭ le￭ ptic seizure
an epi￭ le￭ ptic seizure col￭ lo￭ qu￭ ially a fit is a brief episode of signs or symptoms due to abnormal excessive or synchron￭ ous neuro￭ nal activity in the brain the outward effect can vary from uncontrolled jer￭ king movement tonic cl￭ onic seizure to as subtle as a mom￭ entary loss of awareness absence seizure diseases of the brain characterized by an enduring pre￭ disposition to generate epi￭ le￭ ptic seizures are collectively called epi￭ le￭ psy
an epi￭ le￭ ptic seizure col￭ lo￭ qu￭ ially a fit is a brief episode of signs or symptoms due to abnormal excessive or synchron￭ ous neuro￭ nal activity in the brain the outward effect can vary from uncontrolled jer￭ king movement tonic cl￭ onic seizure to as subtle as a mom￭ entary loss of awareness absence seizure diseases of the brain characterized by an enduring pre￭ disposition to generate epi￭ le￭ ptic seizures are collectively called epi￭ le￭ psy seizures can also occur in people who do not have epi￭ le￭ psy for various reasons including brain trauma drug use elevated body temperature hypo￭ gly￭ cem￭ ia low blood sugar levels and hypo￭ x￭ ia low levels of oxygen to the brain additionally there are a number of conditions that look like epi￭ le￭ ptic seizures but are not a first seizure generally does not require long term treatment with anti seizure medications unless there is a specific problem on either electro￭ encephal￭ o￭ gram or brain imaging 5 – 10 of people who live to 80 years old have at least one epi￭ le￭ ptic seizure and the chance of experiencing a second seizure is between 40 and 50 about 50 of patients with an un￭ provoked apparent first seizure have had other minor seizures so their diagnosis is epi￭ le￭ psy epi￭ le￭ psy affects about 1 of the population currently and affected about 4 of the population at some point in time most of those affected — nearly 80 — live in developing countries
epi￭ le￭ psy
epi￭ le￭ psy is a group of neuro￭ logical diseases characterized by epi￭ le￭ ptic seizures epi￭ le￭ ptic seizures are episodes that can vary from brief and nearly un￭ detec￭ table to long periods of vigorous shaking these episodes can result in physical injuries including occasionally broken bones in epi￭ le￭ psy seizures tend to recur and have no immediate underlying cause isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epi￭ le￭ psy people with epi￭ le￭ psy in some areas of the world experience stigma due to the condition
epi￭ le￭ psy is a group of neuro￭ logical diseases characterized by epi￭ le￭ ptic seizures epi￭ le￭ ptic seizures are episodes that can vary from brief and nearly un￭ detec￭ table to long periods of vigorous shaking these episodes can result in physical injuries including occasionally broken bones in epi￭ le￭ psy seizures tend to recur and have no immediate underlying cause isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epi￭ le￭ psy people with epi￭ le￭ psy in some areas of the world experience stigma due to the condition the cause of most cases of epi￭ le￭ psy is unknown although some people develop epi￭ le￭ psy as the result of brain injury stroke brain tumors infections of the brain and birth defects known genetic mutations are directly linked to a small proportion of cases epi￭ le￭ ptic seizures are the result of excessive and abnormal nerve cell activity in the cor￭ tex of the brain the diagnosis involves ruling out other conditions that might cause similar symptoms such as fain￭ ting and determining if another cause of seizures is present such as alcohol withdrawal or electro￭ ly￭ te problems this may be partly done by imaging the brain and performing blood tests epi￭ le￭ psy can often be confirmed with an electro￭ encephal￭ o￭ gram eeg but a normal test does not rule out the condition epi￭ le￭ psy that occurs as a result of other issues may be preventable seizures are controllable with medication in about 70 of cases inexpensive options are often available in those whose seizures do not respond to medication then surgery neuro￭ stimulation or dietary changes may be considered not all cases of epi￭ le￭ psy are lifelong and many people improve to the point that treatment is no longer needed as of 2013 about 22 million people have epi￭ le￭ psy nearly 80 of cases occur in the developing world in 2013 it resulted in 116 000 deaths up from 112 000 deaths in 1990 epi￭ le￭ psy is more common in older people in the developed world onset of new cases occurs most frequently in babies and the elderly in the developing world onset is more common in older children and young adults due to differences in the frequency of the underlying causes about 5 – 10 of people will have an un￭ provoked seizure by the age of 80 and the chance of experiencing a second seizure is between 40 and 50 in many areas of the world those with epi￭ le￭ psy either have restrictions placed on their ability to drive or are not permitted to drive until they are free of seizures for a specific length of time the word epi￭ le￭ psy is from ancient greek ἐ￭ επι￭ λα￭ μ￭ βά￭ ν￭ ει￭ ν to seize possess or afflic￭ t
ro￭ land￭ ic epi￭ le￭ psy
benign ro￭ land￭ ic epi￭ le￭ psy or benign childhood epi￭ le￭ psy with cent￭ ro￭ temporal spi￭ kes b￭ c￭ ects is the most common epi￭ le￭ psy syndrome in childhood most children will out￭ grow the syndrome it starts around the age of 3 13 with a peak around 8 – 9 years and stops around age 14 18 hence the label benign the seizures sometimes referred to as syl￭ vian seizures start around the central sul￭ cus of the brain also called the cent￭ ro￭ temporal area located around the ro￭ land￭ ic fis￭ sure after lu￭ igi ro￭ lando
la￭ fora disease
la￭ fora disease also called la￭ fora progressive my￭ o￭ cl￭ onic epi￭ le￭ psy or mel￭ f is a fatal auto￭ som￭ al rec￭ essive genetic disorder characterized by the presence of inclusion bodies known as la￭ fora bodies within the cy￭ top￭ las￭ m of the cells of the heart liver muscle and skin in a later study la￭ fora disease has been and is now viewed as a neuro￭ degenerative disease since prior to the actual formation of la￭ fora bodies there has been seen to be an impairment in the development of cere￭ br￭ al cor￭ tical neurons it was further concluded that la￭ fora disease is a complex neuro￭ degenerative disease and also a gly￭ co￭ gen metabol￭ ism disorder
la￭ fora disease also called la￭ fora progressive my￭ o￭ cl￭ onic epi￭ le￭ psy or mel￭ f is a fatal auto￭ som￭ al rec￭ essive genetic disorder characterized by the presence of inclusion bodies known as la￭ fora bodies within the cy￭ top￭ las￭ m of the cells of the heart liver muscle and skin in a later study la￭ fora disease has been and is now viewed as a neuro￭ degenerative disease since prior to the actual formation of la￭ fora bodies there has been seen to be an impairment in the development of cere￭ br￭ al cor￭ tical neurons it was further concluded that la￭ fora disease is a complex neuro￭ degenerative disease and also a gly￭ co￭ gen metabol￭ ism disorder most patients with this disease do not live past the age of twenty five and death within ten years of symptoms is usually inevitable at present there is no cure or treatment for this disease
dra￭ vet syndrome
dra￭ vet syndrome also known as severe my￭ o￭ cl￭ onic epi￭ le￭ psy of infancy sme￭ i is a type of epi￭ le￭ psy with seizures that are often triggered by hot temperatures or fever it often begins around six months of age
oh￭ ta￭ hara syndrome
oh￭ ta￭ hara syndrome os also known as early inf￭ anti￭ le epi￭ le￭ ptic encephalopathy with burst suppression ei￭ ee is a progressive epi￭ le￭ ptic encephalopathy the syndrome is outw￭ ar￭ dly characterized by tonic sp￭ as￭ ms and partial seizures and receives its more elaborate name from the pattern of burst activity on an electro￭ encephal￭ o￭ gram eeg it is an extremely deb￭ il￭ itating progressive neuro￭ logical disorder involving intractable seizures and severe mental retar￭ dation no single cause has been identified although in many cases structural brain damage is present
epi￭ le￭ ptic sp￭ as￭ ms
epi￭ le￭ ptic sp￭ as￭ ms inf￭ anti￭ le sp￭ as￭ ms juvenile sp￭ as￭ ms or west syndrome is an un￭ common to rare epi￭ le￭ ptic disorder in infants children and adults it is named after the english physician william james west 17￭ 93 – 18￭ 48 who first described it in an article published in the lan￭ cet in 18￭ 41 the original case actually described his own son james ed￭ win west 18￭ 40 – 18￭ 60 other names for it are generalized fl￭ ex￭ ion epi￭ le￭ psy inf￭ anti￭ le epi￭ le￭ ptic encephalopathy inf￭ anti￭ le my￭ o￭ cl￭ onic encephalopathy jack￭ knife con￭ vul￭ sions massive my￭ o￭ cl￭ onia and sal￭ a￭ am sp￭ as￭ ms the term inf￭ anti￭ le sp￭ as￭ ms can be used to describe the specific seizure manifestation in the syndrome but is also used as a synon￭ ym for the syndrome itself west syndrome in modern usage is the tri￭ ad of inf￭ anti￭ le sp￭ as￭ ms a path￭ og￭ no￭ mo
epi￭ le￭ ptic sp￭ as￭ ms inf￭ anti￭ le sp￭ as￭ ms juvenile sp￭ as￭ ms or west syndrome is an un￭ common to rare epi￭ le￭ ptic disorder in infants children and adults it is named after the english physician william james west 17￭ 93 – 18￭ 48 who first described it in an article published in the lan￭ cet in 18￭ 41 the original case actually described his own son james ed￭ win west 18￭ 40 – 18￭ 60 other names for it are generalized fl￭ ex￭ ion epi￭ le￭ psy inf￭ anti￭ le epi￭ le￭ ptic encephalopathy inf￭ anti￭ le my￭ o￭ cl￭ onic encephalopathy jack￭ knife con￭ vul￭ sions massive my￭ o￭ cl￭ onia and sal￭ a￭ am sp￭ as￭ ms the term inf￭ anti￭ le sp￭ as￭ ms can be used to describe the specific seizure manifestation in the syndrome but is also used as a synon￭ ym for the syndrome itself west syndrome in modern usage is the tri￭ ad of inf￭ anti￭ le sp￭ as￭ ms a path￭ og￭ no￭ mon￭ ic eeg pattern called hy￭ ps￭ arr￭ hy￭ th￭ mia and developmental regression although the international definition requires only two out of these three elements the syndrome is age related generally occurring between the third and the twelfth month generally manifest￭ ing around the fifth month there are various causes pol￭ ye￭ ti￭ ology the syndrome is often caused by an organic brain dysfunction whose origins may be pre￭ natal per￭ in￭ atal caused during birth or post￭ natal
lennox – gast￭ aut syndrome
lennox – gast￭ aut syndrome l￭ gs is a difficult to treat form of childhood onset epi￭ le￭ psy that most often appears between the second and sixth year of life l￭ gs is characterized by a tri￭ ad of signs including frequent seizures of multiple types an abnormal eeg pattern of less than 2 5 h￭ z slow spike wave activity and moderate to severe intellectual impairment
status epi￭ le￭ p￭ tic￭ us
status epi￭ le￭ p￭ tic￭ us se is an epi￭ le￭ ptic seizure of greater than five minutes or more than one seizure within a five minute period without the person returning to normal between them previous definitions used a 30 minute time limit the seizures can either be of the tonic – cl￭ onic type with a regular pattern of contraction and extension of the arms and legs or of types that do not involve contr￭ actions such as absence seizures or complex partial seizures status epi￭ le￭ p￭ tic￭ us is a life threatening medical emergency particularly if treatment is delayed
status epi￭ le￭ p￭ tic￭ us se is an epi￭ le￭ ptic seizure of greater than five minutes or more than one seizure within a five minute period without the person returning to normal between them previous definitions used a 30 minute time limit the seizures can either be of the tonic – cl￭ onic type with a regular pattern of contraction and extension of the arms and legs or of types that do not involve contr￭ actions such as absence seizures or complex partial seizures status epi￭ le￭ p￭ tic￭ us is a life threatening medical emergency particularly if treatment is delayed status epi￭ le￭ p￭ tic￭ us may occur in those with a history of epi￭ le￭ psy as well as those with an underlying problem of the brain these underlying brain problems may include trauma infections or stro￭ kes among others diagnosis often involves checking the blood sugar imaging of the head a number of blood tests and an electro￭ encephal￭ o￭ gram psycho￭ genic non￭ epi￭ le￭ ptic seizures may present similarly other conditions that may also appear to be se include low blood sugar movement disorders men￭ ing￭ i￭ tis and deli￭ ri￭ um among others benzo￭ di￭ az￭ ep￭ ines are the preferred initial treatment after which typically phen￭ y￭ to￭ in is given possible benzo￭ di￭ az￭ ep￭ ines include intra￭ ven￭ ous lor￭ az￭ ep￭ am as well as intr￭ amus￭ cular injections of mid￭ az￭ ol￭ am a number of other medications may be used if these are not effective such as val￭ pro￭ ic acid phen￭ ob￭ ar￭ b￭ ital pro￭ po￭ fo￭ l or ke￭ tam￭ ine intu￭ b￭ ation may be required to help maintain the person s air￭ way between 10 and 30 of people who have status epi￭ le￭ p￭ tic￭ us die within 30 days the underlying cause the person s age and the length of the seizure are important factors in the outcome status epi￭ le￭ p￭ tic￭ us occurs in up to 40 per 100 000 people per year it makes up about 1 of people who visit the emergency department
migr￭ aine
migr￭ aine is a primary headache disorder characterized by recurrent headaches that are moderate to severe typically the headaches affect one half of the head are pul￭ s￭ ating in nature and last from two to 72 hours associated symptoms may include naus￭ ea v￭ om￭ iting and sensitivity to light sound or smell the pain is generally made worse by physical activity up to one third of people have an a￭ ura typically a short period of visual disturbance which signals that the headache will soon occur occasionally an a￭ ura can occur with little or no headache following it
migr￭ aine is a primary headache disorder characterized by recurrent headaches that are moderate to severe typically the headaches affect one half of the head are pul￭ s￭ ating in nature and last from two to 72 hours associated symptoms may include naus￭ ea v￭ om￭ iting and sensitivity to light sound or smell the pain is generally made worse by physical activity up to one third of people have an a￭ ura typically a short period of visual disturbance which signals that the headache will soon occur occasionally an a￭ ura can occur with little or no headache following it migr￭ ain￭ es are believed to be due to a mixture of environmental and genetic factors about two thirds of cases run in families changing hormone levels may also play a role as migr￭ ain￭ es affect slightly more boys than girls before pu￭ ber￭ ty and two to three times more women than men the risk of migr￭ ain￭ es usually decreases during pregnancy the underlying mechanisms are not fully known it is however believed to involve the nerves and blood vessels of the brain initial recommended treatment is with simple pain medication such as i￭ bu￭ prof￭ en and par￭ acet￭ am￭ ol acet￭ amin￭ oph￭ en for the headache medication for the naus￭ ea and the avoidance of triggers specific medications such as tri￭ pt￭ ans or er￭ got￭ am￭ ines may be used in those for whom simple pain medications are not effective caff￭ eine may be added to the above a number of medications are useful to prevent attacks including me￭ to￭ pro￭ lo￭ l val￭ pro￭ ate and top￭ ir￭ am￭ ate globally approximately 15 of people are affected by migr￭ ain￭ es it most often starts at pu￭ ber￭ ty and is worst during middle age in some women they become less common following men￭ op￭ ause an early description consistent with migr￭ ain￭ es is contained in the e￭ bers pap￭ y￭ rus written around 1500 b￭ ce in ancient egypt the word migr￭ aine is from the greek ἡ￭ μ￭ ικ￭ ρ￭ αν￭ ία hem￭ ik￭ ran￭ ia pain on one side of the head from ἡ￭ μ￭ ι hem￭ i half and κρ￭ αν￭ ί￭ ον k￭ ran￭ ion skull
a￭ ura symptom
an a￭ ura is a percep￭ tual disturbance experienced by some with migr￭ ain￭ es or seizures before either the headache or seizure begins it often manifests as the perception of a strange light an unpleasant smell or confusing thoughts or experiences some people experience a￭ ura without a subsequent migr￭ aine or seizure see silent migr￭ aine aur￭ as vary by individual experience some people experience smells lights or halluc￭ inations less known symptoms of the eye include disturbances where the eyes roll in the back of the head caused by photo￭ sensitivity a suffer￭ er of this type of a￭ ura may experience te￭ ar￭ fulness of the eyes and uncontrollable sens￭ ations of light followed by reduced symptoms after approximately 20 minutes it is the ra￭ rest type of a￭ ura
an a￭ ura is a percep￭ tual disturbance experienced by some with migr￭ ain￭ es or seizures before either the headache or seizure begins it often manifests as the perception of a strange light an unpleasant smell or confusing thoughts or experiences some people experience a￭ ura without a subsequent migr￭ aine or seizure see silent migr￭ aine aur￭ as vary by individual experience some people experience smells lights or halluc￭ inations less known symptoms of the eye include disturbances where the eyes roll in the back of the head caused by photo￭ sensitivity a suffer￭ er of this type of a￭ ura may experience te￭ ar￭ fulness of the eyes and uncontrollable sens￭ ations of light followed by reduced symptoms after approximately 20 minutes it is the ra￭ rest type of a￭ ura when occurring aur￭ as allow people who have epi￭ le￭ psy time to prevent injury to themselves and or others the time between the appearance of the a￭ ura and the migr￭ aine lasts from a few seconds up to an hour the a￭ ura can stay with a migr￭ aine suffer￭ er for the duration of the migr￭ aine depending on the type of a￭ ura it can leave the person dis￭ oriented and confused it is not un￭ common for migr￭ aine sufferers to experience more than one type of a￭ ura during the migr￭ aine most people who have aur￭ as have the same type of a￭ ura every time aur￭ as can also be confused with sudden onset of panic panic attacks or anxiety attacks creating difficulties in diagnosis the differential diagnosis of patients who experience symptoms of pa￭ res￭ the￭ si￭ as dere￭ alization di￭ zz￭ iness chest pain tre￭ mors and pal￭ p￭ itations can be quite challenging
cluster headache
cluster headache ch is a neuro￭ logical disorder characterized by recurrent severe headaches on one side of the head typically around the eye there are often accompanying autonom￭ ic symptoms during the headache such as eye watering nas￭ al congestion and sw￭ elling around the eye typically confined to the side of the head with the pain
chronic par￭ oxy￭ sm￭ al hemic￭ ran￭ ia
chronic par￭ oxy￭ sm￭ al hemic￭ ran￭ ia c￭ ph also known as s￭ ja￭ ast￭ ad syndrome is a severe deb￭ il￭ itating unilateral headache usually affecting the area around the eye it normally consists of multiple severe yet short headache attacks affecting only one side of the cran￭ ium it is more commonly diagnosed in women than in men but unlike a migr￭ aine has no neuro￭ logical symptoms associated with it c￭ ph headaches are treated through the use of non ster￭ o￭ idal anti infl￭ am￭ matory drugs with in￭ dom￭ eth￭ ac￭ in found to be usually effective in eliminating symptoms
chronic par￭ oxy￭ sm￭ al hemic￭ ran￭ ia c￭ ph also known as s￭ ja￭ ast￭ ad syndrome is a severe deb￭ il￭ itating unilateral headache usually affecting the area around the eye it normally consists of multiple severe yet short headache attacks affecting only one side of the cran￭ ium it is more commonly diagnosed in women than in men but unlike a migr￭ aine has no neuro￭ logical symptoms associated with it c￭ ph headaches are treated through the use of non ster￭ o￭ idal anti infl￭ am￭ matory drugs with in￭ dom￭ eth￭ ac￭ in found to be usually effective in eliminating symptoms par￭ oxy￭ sm￭ al hemic￭ ran￭ ia is classified by the frequency and duration of attacks experienced by patients ep￭ is￭ od￭ ic par￭ oxy￭ sm￭ al hemic￭ ran￭ ia attacks occur at least twice a year and last anywhere from seven days to a year with pain free periods of a month or longer separating them chronic par￭ oxy￭ sm￭ al hemic￭ ran￭ ia attacks occur over the course of more than a year without remission or with re￭ missions lasting less than a month
tension headache
tension headache also known as tension type headache is the most common type of primary headache the pain can radi￭ ate from the lower back of the head the neck eyes or other muscle groups in the body typically affecting both sides of the head tension type headaches account for nearly 90 of all headaches tric￭ ycl￭ ic anti￭ depres￭ s￭ ants appear to be useful for prevention evidence is poor for ss￭ ris pro￭ pr￭ ano￭ lo￭ l and muscle relax￭ ants for the treatment of a tension headache i￭ bu￭ prof￭ en is effective
tension headache also known as tension type headache is the most common type of primary headache the pain can radi￭ ate from the lower back of the head the neck eyes or other muscle groups in the body typically affecting both sides of the head tension type headaches account for nearly 90 of all headaches tric￭ ycl￭ ic anti￭ depres￭ s￭ ants appear to be useful for prevention evidence is poor for ss￭ ris pro￭ pr￭ ano￭ lo￭ l and muscle relax￭ ants for the treatment of a tension headache i￭ bu￭ prof￭ en is effective as of 2013 tension headaches affect about 1 6 billion people 20 8 of the population and are more common in women than men 23 to 18 respectively
medication over￭ use headache
medication over￭ use headache mo￭ h also known as rebound headache usually occurs when anal￭ ges￭ ics are taken frequently to relieve headaches rebound headaches frequently occur daily can be very painful and are a common cause of chronic daily headache they typically occur in patients with an underlying headache disorder such as migr￭ aine or tension type headache that trans￭ forms over time from an ep￭ is￭ od￭ ic condition to chronic daily headache due to excessive intake of acute headache relief medications mo￭ h is a serious disab￭ ling and well characterized disorder which represents a worldwide problem and is now considered the third most prevalent type of headache population based studies report the prevalence rate of mo￭ h to be 1 to 2 in the general population but its relative frequency is
hemic￭ ran￭ ia continu￭ a
hemic￭ ran￭ ia continu￭ a hc is a persistent unilateral headache that responds to in￭ dom￭ eth￭ ac￭ in it is usually unre￭ mitting but rare cases of remission have been documented hemic￭ ran￭ ia continu￭ a is considered a primary headache disorder meaning that it is not caused by another condition
thunder￭ cl￭ ap headache
a thunder￭ cl￭ ap headache also referred to as a lone acute severe headache is a headache that is severe and sudden onset it is defined as a severe headache that takes seconds to minutes to reach maximum intensity it can be indicative of a number of medical problems most importantly sub￭ ar￭ ach￭ no￭ id hemorrha￭ ge which can be life threatening usually further investigations are performed to identify the underlying cause
sexual headache
ice cream headache
a brain freeze also known as ice cream headache cold stimulus headache tri￭ gem￭ inal headache or its given scientific name sp￭ hen￭ op￭ al￭ at￭ ine gang￭ lion￭ eur￭ al￭ gia meaning nerve pain of the sp￭ hen￭ op￭ al￭ at￭ ine gang￭ lion is a form of brief pain or headache commonly associated with consumption particularly quick consumption of cold beverages or foods such as ice cream and ice pops it is caused by having something cold touch the roof of the mouth pal￭ ate and is believed to result from a nerve response causing rapid con￭ stric￭ tion and sw￭ elling of blood vessels or a referring of pain from the roof of the mouth to the head the rate of intake for cold foods has been studied as a contributing factor ice cream headache is distinct from denti￭ n hy￭ pers￭ ensi￭ tivity a type of pain that can occur under si￭ mi￭ l
a brain freeze also known as ice cream headache cold stimulus headache tri￭ gem￭ inal headache or its given scientific name sp￭ hen￭ op￭ al￭ at￭ ine gang￭ lion￭ eur￭ al￭ gia meaning nerve pain of the sp￭ hen￭ op￭ al￭ at￭ ine gang￭ lion is a form of brief pain or headache commonly associated with consumption particularly quick consumption of cold beverages or foods such as ice cream and ice pops it is caused by having something cold touch the roof of the mouth pal￭ ate and is believed to result from a nerve response causing rapid con￭ stric￭ tion and sw￭ elling of blood vessels or a referring of pain from the roof of the mouth to the head the rate of intake for cold foods has been studied as a contributing factor ice cream headache is distinct from denti￭ n hy￭ pers￭ ensi￭ tivity a type of pain that can occur under similar circumstances the term ice cream headache has been in use since at least 31 january 19￭ 37 contained in a journal entry by rebecca tim￭ b￭ res published in the 1939 book we didn t ask utopia a qu￭ aker family in soviet russia
post d￭ ural punc￭ ture headache
post d￭ ural punc￭ ture headache p￭ d￭ ph is a complic￭ ation of punc￭ ture of the dur￭ a mat￭ er one of the memb￭ ran￭ es that surround the brain and spinal cord the headache is severe and described as se￭ aring and spreading like hot metal involving the back and front of the head and spreading to the neck and shoulders sometimes involving neck sti￭ ff￭ ness it is exacerbated by movement and sitting or standing and relieved to some degree by lying down naus￭ ea v￭ om￭ iting pain in arms and legs hearing loss tin￭ nit￭ us ver￭ ti￭ go di￭ zz￭ iness and par￭ a￭ esthesia of the scal￭ p are common
post d￭ ural punc￭ ture headache p￭ d￭ ph is a complic￭ ation of punc￭ ture of the dur￭ a mat￭ er one of the memb￭ ran￭ es that surround the brain and spinal cord the headache is severe and described as se￭ aring and spreading like hot metal involving the back and front of the head and spreading to the neck and shoulders sometimes involving neck sti￭ ff￭ ness it is exacerbated by movement and sitting or standing and relieved to some degree by lying down naus￭ ea v￭ om￭ iting pain in arms and legs hearing loss tin￭ nit￭ us ver￭ ti￭ go di￭ zz￭ iness and par￭ a￭ esthesia of the scal￭ p are common it is a common side effect of spinal an￭ esthesia and lum￭ bar punc￭ ture and may occasionally accidentally occur in ep￭ id￭ ural an￭ esthesia leakage of cere￭ bro￭ spinal fluid through the dur￭ a mat￭ er punc￭ ture causes reduced fluid levels in the brain and spinal cord and may lead to the development of p￭ d￭ ph hours or days later onset occurs within two days in 66 percent and within three days in ninety percent of p￭ d￭ ph cases it occurs so rarely immediately after punc￭ ture that other possible causes should be investigated when it does
hangover
a hangover is the experience of various unpleasant physiological and psychological effects following the consumption of ethanol as found in wine beer and distilled spirits hango￭ vers can last for several hours or for more than 24 hours typical symptoms of a hangover may include headache drow￭ sin￭ ess concentration problems dry mouth di￭ zz￭ iness fatigue gastro￭ intest￭ inal distress e g v￭ om￭ iting absence of hunger swe￭ ating naus￭ ea hyper exc￭ itability and anxiety
a hangover is the experience of various unpleasant physiological and psychological effects following the consumption of ethanol as found in wine beer and distilled spirits hango￭ vers can last for several hours or for more than 24 hours typical symptoms of a hangover may include headache drow￭ sin￭ ess concentration problems dry mouth di￭ zz￭ iness fatigue gastro￭ intest￭ inal distress e g v￭ om￭ iting absence of hunger swe￭ ating naus￭ ea hyper exc￭ itability and anxiety while the causes of a hangover are still poorly understood several factors are known to be involved including ace￭ tal￭ de￭ hyde accumulation changes in the immune system and glucose metabol￭ ism dehydr￭ ation metabol￭ ic aci￭ do￭ sis disturbed pro￭ stag￭ land￭ in synthesis increased cardiac output vas￭ o￭ dil￭ ation sleep deprivation and malnutrition bever￭ age specific effects of additives or by products such as con￭ gen￭ ers in alcoholic beverages also play an important role the symptoms occur typically after the in￭ tox￭ ic￭ ating effect of the alcohol begins to wear off generally the morning after a night of heavy drinking though many possible remedies and folk cures have been suggested there is no compelling evidence to suggest that any are effective for preventing or treating alcohol hangover avoiding alcohol or drinking in moderation are the most effective ways to avoid a hangover the socioeconomic consequences and health risks of alcohol hangover include workplace ab￭ sent￭ ee￭ ism impaired job performance reduced productivity and poor academic achievement a hangover may also compromise potentially dangerous daily activities such as driving a car or operating heavy machinery
to￭ los￭ a – hunt syndrome
am￭ au￭ ro￭ sis fu￭ ga￭ x
transi￭ ent global amnesia
transi￭ ent global amnesia t￭ ga is a neuro￭ logical disorder whose key defining characteristic is a temporary but almost total disruption of short term memory with a range of problems accessing older memories a person in a state of t￭ ga exhi￭ bits no other signs of impaired cognitive functioning but recalls only the last few moments of consciousness as well as deeply en￭ coded facts of the individual s past such as his or her own name
sub￭ cl￭ avian steal syndrome
transi￭ ent is￭ chem￭ ic attack
a transi￭ ent is￭ chem￭ ic attack tia is a transi￭ ent episode of neuro￭ logic dysfunction caused by is￭ chem￭ ia loss of blood flow – either focal brain spinal cord or re￭ tin￭ al – without acute inf￭ arc￭ tion tissue death ti￭ as have the same underlying cause as stro￭ kes a disruption of cere￭ br￭ al blood flow c￭ b￭ f and are often referred to as mini stro￭ kes symptoms caused by a tia resolve in 24 hours or less tia was originally defined clin￭ ically by the temporary nature of less than 24 hours of the associated neuro￭ logic symptoms recently the american heart association and american stroke association aha asa defined tia as transi￭ ent episode of neuro￭ logic dysfunction caused by focal brain spinal cord or re￭ tin￭ al is￭ chem￭ ia without acute inf￭ arc￭ tion ti￭ as cause the same symptoms associated with stroke
medi￭ al med￭ ul￭ l￭ ary syndrome
medi￭ al med￭ ul￭ l￭ ary syndrome also known as inferior altern￭ ating syndrome hypo￭ glos￭ sal altern￭ ating hem￭ ip￭ legi￭ a lower altern￭ ating hem￭ ip￭ legi￭ a or de￭ jer￭ ine syndrome is a type of altern￭ ating hem￭ ip￭ legi￭ a characterized by a set of clinical features resulting from oc￭ clu￭ sion of the an￭ terior spinal artery this results in the inf￭ arc￭ tion of medi￭ al part of the med￭ ul￭ la obl￭ ong￭ ata
mill￭ ard – gu￭ bler syndrome
mill￭ ard – gu￭ bler syndrome is a le￭ sion of the p￭ ons it is also called ven￭ tr￭ al pon￭ tine syndrome
par￭ in￭ aud s syndrome
fo￭ ville s syndrome
bene￭ di￭ kt syndrome
bene￭ di￭ kt syndrome also called bene￭ di￭ kt s syndrome or parame￭ dian mid￭ brain syndrome is a rare type of poster￭ ior circulation stroke of the brain with a range of neuro￭ logical symptoms affecting the mid￭ brain cere￭ bell￭ um and other related structures
lateral med￭ ul￭ l￭ ary syndrome
lateral med￭ ul￭ l￭ ary syndrome also called wall￭ en￭ berg syndrome and poster￭ ior inferior cere￭ bell￭ ar artery syndrome is a disorder in which the patient has a con￭ stell￭ ation of neuro￭ logic symptoms due to injury to the lateral part of the med￭ ul￭ la in the brain resulting in tissue is￭ chem￭ ia and necro￭ sis
hyper￭ som￭ nia
cir￭ c￭ adi￭ an rhythm sleep disorder
cir￭ c￭ adi￭ an rhythm sleep disorders cr￭ s￭ d a family of sleep disorders affect among other bodily processes the timing of sleep people with cir￭ c￭ adi￭ an rhythm sleep disorders are unable to go to sleep and awaken at the times commonly required for work and school as well as social needs they are generally able to get enough sleep if allowed to sleep and wake at the times dictated by their body c￭ locks the quality of their sleep is usually normal unless they also have another sleep disorder
cir￭ c￭ adi￭ an rhythm sleep disorders cr￭ s￭ d a family of sleep disorders affect among other bodily processes the timing of sleep people with cir￭ c￭ adi￭ an rhythm sleep disorders are unable to go to sleep and awaken at the times commonly required for work and school as well as social needs they are generally able to get enough sleep if allowed to sleep and wake at the times dictated by their body c￭ locks the quality of their sleep is usually normal unless they also have another sleep disorder humans like most living organisms have various biological rhy￭ th￭ ms cir￭ c￭ adi￭ an rhy￭ th￭ ms often referred to as the body clock or the biological clock control processes that re occur daily e g body temperature aler￭ tness and hormone secre￭ tion as well as sleep timing due to the cir￭ c￭ adi￭ an clock sleep￭ iness does not continuously increase throughout the day a person s desire and ability to fall asleep is influenced both by the length of time since the person woke from an adequate sleep and by internal cir￭ c￭ adi￭ an rhy￭ th￭ ms thus a person s body is ready for sleep and for wa￭ ke￭ fulness at relatively specific times of the day sleep researcher yar￭ on d￭ agan states that t h￭ ese disorders can lead to harmful psychological and functional difficulties and are often mis￭ diagnosed and incorrectly treated due to the fact that doctors are unaware of their existence
delayed sleep phase disorder
delayed sleep phase disorder d￭ spd also known as delayed sleep phase syndrome or delayed sleep phase type and in the 2014 revision of the international classification of sleep disorders isc￭ d 3 delayed sleep wake phase disorder is a chronic dys￭ regulation of a person s cir￭ c￭ adi￭ an rhythm biological clock compared to the general population and relative to societal norms the disorder affects the timing of sleep peak period of aler￭ tness the core body temperature rhythm and hormonal and other daily cycles people with d￭ spd generally fall asleep some hours after midnight and have difficulty waking up in the morning people with d￭ spd probably have a cir￭ c￭ adi￭ an period significantly longer than 24 hours depending on the severity the symptoms can be managed to a greater or lesser degree
delayed sleep phase disorder d￭ spd also known as delayed sleep phase syndrome or delayed sleep phase type and in the 2014 revision of the international classification of sleep disorders isc￭ d 3 delayed sleep wake phase disorder is a chronic dys￭ regulation of a person s cir￭ c￭ adi￭ an rhythm biological clock compared to the general population and relative to societal norms the disorder affects the timing of sleep peak period of aler￭ tness the core body temperature rhythm and hormonal and other daily cycles people with d￭ spd generally fall asleep some hours after midnight and have difficulty waking up in the morning people with d￭ spd probably have a cir￭ c￭ adi￭ an period significantly longer than 24 hours depending on the severity the symptoms can be managed to a greater or lesser degree but no cure is known affected people often report that while they do not get to sleep until the early morning they do fall asleep around the same time every day unless they have another sleep disorder such as sleep ap￭ ne￭ a in addition to d￭ spd patients can sleep well and have a normal need for sleep however they find it very difficult to wake up in time for a typical school or work day if they are allowed to follow their own schedules e g sleeping from 3 00 am to 12 00 noon their sleep is improved and they may not experience excessive day￭ time sleep￭ iness attempting to force oneself onto day￭ time society s schedule with d￭ spd has been compared to constantly living with jet lag d￭ spd has in fact been referred to as social jet lag the syndrome usually develops in early childhood or adoles￭ cence an adoles￭ cent version may disappear in late adoles￭ cence or early adul￭ thood otherwise d￭ spd is a lifelong condition prevalence among adults equally distributed among women and men is around 0 15 or three in 2 000 prevalence among adolescents is as much as 7 – 16 d￭ spd was first formally described in 1981 by elliot d we￭ it￭ z￭ man and others at monte￭ fi￭ ore medical center it is responsible for 7 – 10 of patient complaints of chronic in￭ som￭ nia however since many doctors are unfamiliar with the condition it often goes untreated or is treated in￭ appropriately d￭ spd is often mis￭ diagnosed as primary in￭ som￭ nia or as a psychiatric condition d￭ spd can be treated or helped in some cases by careful daily sleep practices light therapy dark therapy and medications such as mel￭ at￭ on￭ in and mod￭ a￭ fin￭ il provi￭ gil the former is a natural neuro￭ hormone partly responsible for the human body clock at its most severe and inflexible d￭ spd is a disability a chief difficulty of treating d￭ spd is in maintaining an earlier schedule after it has been established as the patient s body has a strong tendency to reset the sleeping schedule to its intrinsic late times people with d￭ spd may improve their quality of life by choosing careers that allow late sleeping times rather than forcing themselves to follow a conventional 9 to 5 work schedule
jet lag
jet lag medic￭ ally referred to as des￭ yn￭ chrono￭ sis and rarely as cir￭ c￭ adi￭ an dys￭ rhy￭ th￭ mia is a physiological condition which results from alterations to the body s cir￭ c￭ adi￭ an rhy￭ th￭ ms resulting from rapid long distance trans mer￭ idi￭ an east – west or west – east travel on high speed aircraft for example someone travelling from new york to london feels as if the time were five hours earlier than local time jet lag was previously classified as one of the cir￭ c￭ adi￭ an rhythm sleep disorders
jet lag medic￭ ally referred to as des￭ yn￭ chrono￭ sis and rarely as cir￭ c￭ adi￭ an dys￭ rhy￭ th￭ mia is a physiological condition which results from alterations to the body s cir￭ c￭ adi￭ an rhy￭ th￭ ms resulting from rapid long distance trans mer￭ idi￭ an east – west or west – east travel on high speed aircraft for example someone travelling from new york to london feels as if the time were five hours earlier than local time jet lag was previously classified as one of the cir￭ c￭ adi￭ an rhythm sleep disorders the condition of jet lag may last several days before the traveller is fully adjusted to the new time zone a recovery period of one day per time zone crossed is a suggested guideline jet lag is especially an issue for airline pilots crew and frequent travellers airlines have regulations aimed at combating pilot fatigue caused by jet lag the term jet lag is used because before the arrival of passenger jet aircraft it was un￭ common to travel far and fast enough to cause jet lag travel by prop￭ eller driven aircraft by ship or by train were slower and of more limited distance than jet flights and thus did not contribute widely to the problem
central hypo￭ ventilation syndrome
central hypo￭ ventilation syndrome ch￭ s is a respiratory disorder that results in respiratory arrest during sleep ch￭ s can either be con￭ genital c￭ ch￭ s or acquired ah￭ cs later in life it is fatal if untreated it is also known by on￭ dine s curse
sleep ap￭ ne￭ a
sleep ap￭ ne￭ a is a sleep disorder characterized by pa￭ uses in breathing or periods of shallow breathing during sleep each pause can last for a few seconds to several minutes and they happen many times a night in the most common form this follows loud snor￭ ing there may be a choking or snor￭ ting sound as breathing resum￭ es as it disrup￭ ts normal sleep those affected are often sleepy or tired during the day in children it may cause problems in school or hyper￭ activity
sleep ap￭ ne￭ a is a sleep disorder characterized by pa￭ uses in breathing or periods of shallow breathing during sleep each pause can last for a few seconds to several minutes and they happen many times a night in the most common form this follows loud snor￭ ing there may be a choking or snor￭ ting sound as breathing resum￭ es as it disrup￭ ts normal sleep those affected are often sleepy or tired during the day in children it may cause problems in school or hyper￭ activity there are three forms of sleep ap￭ ne￭ a obstruc￭ tive osa central c￭ sa and a combination of the two osa is the most common form risk factors for osa include being overweight a family history of the condition allergies and enlarged ton￭ si￭ ls in osa breathing is interrupted by a block￭ age of air￭ flow while in c￭ sa breathing stops due to a lack of effort to breathe people with sleep ap￭ ne￭ a are often not aware they have it often it is picked up by a family member sleep ap￭ ne￭ a is often diagnosed with an overnight sleep study for a diagnosis of sleep ap￭ ne￭ a more than five episodes an hour must occur treatment may include lifestyle changes mouth￭ pieces breathing devices and surgery lifestyles changes may include avoiding alcohol weight loss stopping smoking and sleeping on their side breathing devices include the use of a cp￭ ap machine without treatment sleep ap￭ ne￭ a may increase the risk of heart attack stroke diabetes heart failure irregular heartbeat obesity and motor vehicle collis￭ ions osa affects 1 6 of adults and 2 of children it affects males about twice as often as female while people at any age can be affected it occurs most commonly among those 55 to 60 years old central sleep ap￭ ne￭ a affects less than one percent of people a type of central sleep ap￭ ne￭ a was described in the german myth of on￭ dine s curse where when asleep the person would forget to breathe
narco￭ le￭ psy
narco￭ le￭ psy is a long term neuro￭ logical disorder that involves a decreased ability to regulate sleep wake cycles symptoms include periods of excessive day￭ time sleep￭ iness that usually lasts from seconds to minutes and may occur at any time about 70 also have periods of sudden loss of muscle strength known as cat￭ ap￭ l￭ ex￭ y these spells can be brought on by strong emotions less commonly there may be vivid dream like images or the inability to move for a period of time during falling asleep or upon waking up people with narco￭ le￭ psy sleep about the same amount of hours per day as people without but the quality of sleep tends to be worse
narco￭ le￭ psy is a long term neuro￭ logical disorder that involves a decreased ability to regulate sleep wake cycles symptoms include periods of excessive day￭ time sleep￭ iness that usually lasts from seconds to minutes and may occur at any time about 70 also have periods of sudden loss of muscle strength known as cat￭ ap￭ l￭ ex￭ y these spells can be brought on by strong emotions less commonly there may be vivid dream like images or the inability to move for a period of time during falling asleep or upon waking up people with narco￭ le￭ psy sleep about the same amount of hours per day as people without but the quality of sleep tends to be worse the cause of narco￭ le￭ psy is unknown in up to 10 of cases there is a family history of the disorder often those affected have low levels of the neuro￭ transmitter hypo￭ cre￭ tin which may be due to an auto￭ immune disorder trauma certain infections toxins or psychological stress may also play a role diagnosis is typically based on the symptoms and sleep studies after ruling out other potential causes excessive day￭ time sleep￭ iness can also be caused by other sleep disorders such as sleep ap￭ ne￭ a major depres￭ sive disorder an￭ emia heart failure drinking alcohol and not getting enough sleep cat￭ ap￭ l￭ ex￭ y may be mistaken for seizures while there is no cure a number of lifestyle changes and medications may help lifestyle changes include taking regular short n￭ aps and sleep hygiene medications used include mod￭ a￭ fin￭ il sodium oxy￭ b￭ ate and meth￭ yl￭ phen￭ id￭ ate while initially fairly effective tolerance to the benefits may develop tric￭ ycl￭ ic anti￭ depres￭ s￭ ants and selective sero￭ ton￭ in re￭ uptake inhi￭ bit￭ ors ss￭ ris may improve cat￭ ap￭ l￭ ex￭ y about 0 2 to 600 per 100 000 people are affected the condition often begins in childhood men and women are affected equally untreated narco￭ le￭ psy increases the risk of motor vehicle collis￭ ions and falls the term narco￭ le￭ psy is from the french narco￭ le￭ p￭ sie the french term was first used in 18￭ 80 by jean bap￭ ti￭ ste é￭ dou￭ ard gé￭ line￭ au who used the greek ν￭ άρ￭ κ￭ η nar￭ k￭ ē meaning num￭ b￭ ness and λ￭ ῆ￭ ψ￭ ις le￭ p￭ sis meaning attack
cat￭ ap￭ l￭ ex￭ y
periodic limb movement disorder
kle￭ ine – le￭ vin syndrome
kle￭ ine – le￭ vin syndrome k￭ ls also known as sleeping beauty syndrome is a rare sleep disorder characterized by persistent ep￭ is￭ od￭ ic hyper￭ som￭ nia and cognitive or mood changes many patients also experience hyper￭ p￭ ha￭ gia hy￭ pers￭ ex￭ uality and other symptoms patients generally experience recurrent episodes of the condition for more than a decade individual episodes generally last more than a week but less than a month the condition greatly affects the personal professional and social lives of sufferers but symptoms spontaneously resolve and seldom cause permanent issues the severity of symptoms and the course of the syndrome vary between sufferers patients commonly have about 20 episodes over about a decade several months generally elapse between episodes the onset of the condition usual
atypical tri￭ gem￭ inal ne￭ ur￭ al￭ gia
atypical tri￭ gem￭ inal ne￭ ur￭ al￭ gia at￭ n or type 2 tri￭ gem￭ inal ne￭ ur￭ al￭ gia is a form of tri￭ gem￭ inal ne￭ ur￭ al￭ gia a disorder of the fifth cran￭ ial nerve this form of nerve pain is difficult to diagnose as it is rare and the symptoms overlap with several other disorders the symptoms can occur in addition to having migr￭ aine headache or can be mistaken for migr￭ aine alone or dental problems such as tempor￭ om￭ andi￭ bul￭ ar joint disorder mus￭ cul￭ osk￭ el￭ etal issues or hypo￭ ch￭ on￭ dri￭ asis at￭ n can have a wide range of symptoms and the pain can fluctu￭ ate in intensity from mild aching to a crushing or burning sensation and also to the extreme pain experienced with the more common tri￭ gem￭ inal ne￭ ur￭ al￭ gia
tri￭ gem￭ inal ne￭ ur￭ al￭ gia
tri￭ gem￭ inal ne￭ ur￭ al￭ gia t￭ n or t￭ gn is a chronic pain disorder that affects the tri￭ gem￭ inal nerve there are two main types typical and atypical tri￭ gem￭ inal ne￭ ur￭ al￭ gia the typical form results in episodes of severe sudden shock like pain in one side of the face that lasts for seconds to a few minutes groups of these episodes can occur over a few hours the atypical form results in a constant burning pain that is less severe episodes may be triggered by any touch to the face both forms may occur in the same person it is one of the most painful conditions and can result in depression
facial nerve paralysis
mel￭ ker￭ sson – ro￭ sen￭ th￭ al syndrome
mel￭ ker￭ sson – ro￭ sen￭ th￭ al syndrome also termed mi￭ es￭ cher mel￭ ker￭ sson ro￭ sen￭ th￭ al syndrome is a rare neuro￭ logical disorder characterized by recurring facial paralysis sw￭ elling of the face and lips usually the upper lip and the development of fol￭ ds and fur￭ rows in the tongue onset is in childhood or early adoles￭ cence after recurrent attacks ranging from days to years in between sw￭ elling may persist and increase eventually becoming permanent the lip may become hard cracked and f￭ issu￭ red with a red￭ dish brown dis￭ color￭ ation the cause of mel￭ ker￭ sson – ro￭ sen￭ th￭ al syndrome is unknown but there may be a genetic pre￭ disposition it has been noted to be especially prevalent among certain ethnic groups in bolivia it can be symptomatic of cro￭ hn s disease or sar￭ co￭ ido￭ sis
my￭ ok￭ y￭ mia
my￭ ok￭ y￭ mia from the greek m￭ ŷ￭ s muscle k￭ ŷ￭ m k￭ ŷ￭ mia something sw￭ oll￭ en or k￭ ŷ￭ mos wave is an involuntary spontaneous loc￭ alised qui￭ vering of a few muscles or bund￭ les within a muscle but which are insufficient to move a joint one type is superior obli￭ que my￭ ok￭ y￭ mia my￭ ok￭ y￭ mia in otherwise unrelated body parts may occur in neuro￭ my￭ o￭ ton￭ ia
superior obli￭ que my￭ ok￭ y￭ mia
superior obli￭ que my￭ ok￭ y￭ mia is a neuro￭ logical disorder affecting vision and was named by ho￭ y￭ t and ke￭ ane in 1970 it is a condition that presents as repeated brief episodes of movement shim￭ mering or shaking of the vision of one eye a feeling of the eye trem￭ bling or vertical til￭ ted vision it can present as one or more of these symptoms diagnosis is most often made by the elimination of other conditions disorders or diseases onset usually occurs in adul￭ thood and the course is benign and is not commonly associated with other disorders
par￭ ry – rom￭ berg syndrome
par￭ ry – rom￭ berg syndrome also known as progressive hem￭ i￭ facial atro￭ phy is a rare disease characterized by progressive shr￭ ink￭ age and de￭ generation of the tissues beneath the skin usually on only one side of the face hem￭ i￭ facial atro￭ phy but occasionally extending to other parts of the body an auto￭ immune mechanism is suspected and the syndrome may be a variant of loc￭ alized s￭ cl￭ ero￭ der￭ ma but the precise eti￭ ology and patho￭ genesis of this acquired disorder remains unknown it has been reported in the literature as a possible consequence of sympath￭ ec￭ tomy the syndrome has a higher prevalence in females and typically appears between 5 – 15 years of age
oc￭ ci￭ p￭ ital ne￭ ur￭ al￭ gia
oc￭ ci￭ p￭ ital ne￭ ur￭ al￭ gia also known as c 2 ne￭ ur￭ al￭ gia or rarely arnold s ne￭ ur￭ al￭ gia is a medical condition characterized by chronic pain in the upper neck back of the head and behind the eyes these areas correspond to the locations of the lesser and greater oc￭ ci￭ p￭ ital nerves wrapped around the greater oc￭ ci￭ p￭ ital nerve is the oc￭ ci￭ p￭ ital artery which can contribute to the ne￭ ur￭ al￭ gia the condition is also sometimes characterized by diminished sensation in the affected area symptoms include sharp jab￭ bing intense pains or sens￭ ations burning and or pric￭ king feeling
radic￭ ul￭ opathy
radic￭ ul￭ opathy refers to a set of conditions in which one or more nerves are affected and do not work properly a neuro￭ pa￭ thy the location of the injury is at the level of the nerve root radi￭ x root this can result in pain radic￭ ular pain weakness num￭ b￭ ness or difficulty controlling specific muscles the radic￭ ular pain that results from a radic￭ ul￭ opathy should not be confused with referred pain which is different both in mechanism and clinical features poly￭ radic￭ ul￭ opathy refers to the condition where more than one spinal nerve root is affected
thor￭ ac￭ ic outlet syndrome
thor￭ ac￭ ic outlet syndrome tos is a condition in which there is compression of the nerves arter￭ ies or ve￭ ins in the pass￭ age￭ way from the lower neck to the ar￭ mp￭ it there are three main types neuro￭ genic ven￭ ous and arter￭ ial the neuro￭ genic type is the most common and presents with pain weakness and occasionally loss of muscle at the base of the thumb the ven￭ ous type results in sw￭ elling pain and possibly a blu￭ ish color￭ ation of the arm the arter￭ ial type results in pain col￭ dness and pal￭ eness of the arm
thor￭ ac￭ ic outlet syndrome tos is a condition in which there is compression of the nerves arter￭ ies or ve￭ ins in the pass￭ age￭ way from the lower neck to the ar￭ mp￭ it there are three main types neuro￭ genic ven￭ ous and arter￭ ial the neuro￭ genic type is the most common and presents with pain weakness and occasionally loss of muscle at the base of the thumb the ven￭ ous type results in sw￭ elling pain and possibly a blu￭ ish color￭ ation of the arm the arter￭ ial type results in pain col￭ dness and pal￭ eness of the arm tos may result from trauma repeti￭ tive arm movements tumors pregnancy or anatom￭ ical variations such as a cer￭ vic￭ al ri￭ b the diagnosis may be supported by nerve conduc￭ tion studies and medical imaging other conditions that can produce similar symptoms include rot￭ ator cuff tear cer￭ vic￭ al dis￭ c disorders fi￭ bro￭ my￭ al￭ gia multiple sclerosis and complex regional pain syndrome initial treatment for the neuro￭ genic type is with exercises to strengthen the chest muscles and improve posture n￭ s￭ aids such as na￭ pro￭ x￭ en may be used for pain surgery is typically done for the arter￭ ial and ven￭ ous types and for the neuro￭ genic type if it does not improve with other treatments blood thin￭ ners may be used to treat or prevent blood clo￭ ts the condition affects about 1 of the population it is more common in women than men and it occurs most commonly between 20 and 50 years of age the condition was first described in 18￭ 18 and the current term thor￭ ac￭ ic outlet syndrome first used in 1956
par￭ son￭ age – turner syndrome
par￭ son￭ age – turner syndrome is also known as acute br￭ achi￭ al neuro￭ pa￭ thy and acute br￭ achi￭ al radic￭ u￭ li￭ tis other names used are par￭ son￭ age – al￭ dren – turner syndrome ne￭ ur￭ al￭ gic am￭ yo￭ tro￭ phy br￭ achi￭ al ne￭ uri￭ tis br￭ achi￭ al plex￭ us neuro￭ pa￭ thy or br￭ achi￭ al pl￭ exi￭ tis par￭ son￭ age – turner syndrome has an incidence of 1 64 cases in 100 000 people
phantom limb
a phantom limb is the sensation that an am￭ put￭ ated or missing limb is still attached approximately 60 to 80 of individuals with an ampu￭ tation experience phantom sens￭ ations in their am￭ put￭ ated limb and the majority of the sens￭ ations are painful phantom sens￭ ations may also occur after the removal of body parts other than the limbs e g after ampu￭ tation of the breast extraction of a tooth phantom tooth pain or removal of an eye phantom eye syndrome
car￭ pal tunnel syndrome
car￭ pal tunnel syndrome c￭ ts is a medical condition due to compression of the median nerve as it travels through the wrist at the car￭ pal tunnel the main symptoms are pain num￭ b￭ ness and ting￭ ling in the thumb index finger middle finger and the thumb side of the ring fingers symptoms typically start gradually and during the night pain may extend up the arm weak grip strength may occur and after a long period of time the muscles at the base of the thumb may waste away in more than half of cases both sides are affected
car￭ pal tunnel syndrome c￭ ts is a medical condition due to compression of the median nerve as it travels through the wrist at the car￭ pal tunnel the main symptoms are pain num￭ b￭ ness and ting￭ ling in the thumb index finger middle finger and the thumb side of the ring fingers symptoms typically start gradually and during the night pain may extend up the arm weak grip strength may occur and after a long period of time the muscles at the base of the thumb may waste away in more than half of cases both sides are affected risk factors include obesity repeti￭ tive wrist work pregnancy and r￭ heu￭ mato￭ id ar￭ thri￭ tis there is tentative evidence that hypo￭ thyro￭ i￭ dis￭ m increases the risk it is unclear if diabetes plays a role the use of birth control pills does not affect the risk types of work that are associated include computer work work with vibr￭ ating tools and work that requires a strong grip diagnosis is suspected based on signs symptoms and specific physical tests and may be confirmed with electro￭ diagnostic tests if muscle wasting at the base of the thumb is present the diagnosis is likely being physically active can decrease the risk of developing c￭ ts symptoms can be improved by wearing a wrist spl￭ int or with cor￭ ti￭ co￭ ster￭ o￭ id injections taking n￭ s￭ aids or gab￭ ap￭ entin does not appear to be useful surgery to cut the trans￭ verse car￭ pal lig￭ ament is effective with better results at a year compared to non surgical options further spl￭ in￭ ting after surgery is not needed evidence does not support magnet therapy about 5 of people in the united states have car￭ pal tunnel syndrome it usually begins in adul￭ thood and women are more commonly affected than men up to 33 of people may improve without specific treatment over approximately a year car￭ pal tunnel syndrome was first fully described after world war ii
tin￭ el s sign
tin￭ el s sign is a way to detect irritated nerves it is performed by lightly tapping per￭ cus￭ sing over the nerve to elic￭ it a sensation of ting￭ ling or pins and needles in the distribution of the nerve it takes its name from french neuro￭ logist jules tin￭ el 18￭ 79 – 1952 although most frequently associated with car￭ pal tunnel syndrome tin￭ el s sign is a generalized term and can also be positive in tar￭ sal tunnel syndrome or in ul￭ nar nerve imp￭ ing￭ ement at the wrist guy￭ on s canal syndrome where it affects the other ul￭ nar half of the fourth digit and the fifth digit
tin￭ el s sign is a way to detect irritated nerves it is performed by lightly tapping per￭ cus￭ sing over the nerve to elic￭ it a sensation of ting￭ ling or pins and needles in the distribution of the nerve it takes its name from french neuro￭ logist jules tin￭ el 18￭ 79 – 1952 for example in car￭ pal tunnel syndrome where the median nerve is compressed at the wrist tin￭ el s sign is often positive causing ting￭ ling in the thumb index middle finger and the rad￭ ial half of the fourth digit tin￭ el s sign is sometimes referred to as dis￭ tal ting￭ ling on per￭ cus￭ sion or d￭ tp this dis￭ tal sign of regeneration can be expected during different stage of som￭ at￭ os￭ ens￭ ory recovery although most frequently associated with car￭ pal tunnel syndrome tin￭ el s sign is a generalized term and can also be positive in tar￭ sal tunnel syndrome or in ul￭ nar nerve imp￭ ing￭ ement at the wrist guy￭ on s canal syndrome where it affects the other ul￭ nar half of the fourth digit and the fifth digit
an￭ terior inter￭ osse￭ ous syndrome
an￭ terior inter￭ osse￭ ous syndrome or kilo￭ h ne￭ vin syndrome i is a medical condition in which damage to the an￭ terior inter￭ osse￭ ous nerve ain a motor branch of the median nerve causes pain in the fore￭ arm and a characteristic weakness of the p￭ inc￭ er movement of the thumb and index finger most cases of ain syndrome are due to a transi￭ ent ne￭ uri￭ tis although compression of the ain can happen trauma to the median nerve have also been reported as a cause of ain syndrome
an￭ terior inter￭ osse￭ ous syndrome or kilo￭ h ne￭ vin syndrome i is a medical condition in which damage to the an￭ terior inter￭ osse￭ ous nerve ain a motor branch of the median nerve causes pain in the fore￭ arm and a characteristic weakness of the p￭ inc￭ er movement of the thumb and index finger most cases of ain syndrome are due to a transi￭ ent ne￭ uri￭ tis although compression of the ain can happen trauma to the median nerve have also been reported as a cause of ain syndrome although there is still controversy among upper extre￭ mity surgeons ain syndrome is now regarded as a ne￭ uri￭ tis infl￭ amm￭ ation of the nerve in most cases this is similar to par￭ son￭ age – turner syndrome although the exact eti￭ ology is unknown there is evidence that it is caused by an immune medi￭ ated response studies are limited and no random￭ ized controlled trials have been performed regarding the treatment of ain syndrome while the natural history of ain syndrome is not fully understood studies following patients who have been treated without surgery show that symptoms can resolve starting as late as one year after onset other retrospective studies have shown that there is no difference in outcome in sur￭ g￭ ically versus non￭ sur￭ g￭ ically treated patients surgical de￭ compression is rarely indicated in ain syndrome indications for considering surgery include a known space occupying le￭ sion that is com￭ pressing the nerve a mass and persistent symptoms beyond 1 year of conservative treatment
ul￭ nar nerve entr￭ ap￭ ment
ul￭ nar nerve entr￭ ap￭ ment is classified by location of entr￭ ap￭ ment the ul￭ nar nerve passes through several small tunnels and outlets through the medi￭ al upper extre￭ mity and at these points the nerve is vulnerable to compression or entr￭ ap￭ ment — a so called pin￭ ched nerve a pin￭ ched nerve may also be the result of another injury so be aware the nerve is particularly vulnerable to injury when there has been a disruption in the normal anatomy the most common site of ul￭ nar nerve entr￭ ap￭ ment is at the el￭ bow followed by the wrist
rad￭ ial neuro￭ pa￭ thy
rad￭ ial neuro￭ pa￭ thy or rad￭ ial mon￭ on￭ euro￭ pa￭ thy is a type of mon￭ on￭ euro￭ pa￭ thy which results from acute trauma to the rad￭ ial nerve that extends the length of the arm it is known as transi￭ ent pa￭ res￭ the￭ sia when sensation is temporarily abnormal
pi￭ ri￭ form￭ is syndrome
pi￭ ri￭ form￭ is syndrome is a neuro￭ muscular disorder that occurs when the sci￭ atic nerve is compressed or otherwise irritated by the pi￭ ri￭ form￭ is muscle causing pain ting￭ ling and num￭ b￭ ness in the but￭ toc￭ ks and along the path of the sci￭ atic nerve descending the lower thi￭ gh and into the leg diagnosis is often difficult due to few validated and standardized diagnostic tests but two tests have been well described and clin￭ ically validated one is electro￭ physiological called the fair test which measures delay in sci￭ atic nerve conduc￭ tions when the pi￭ ri￭ form￭ is muscle is stretched against it the other is magnetic resonance neuro￭ graphy a type of m￭ ri that highlights infl￭ amm￭ ation and the nerves themselves some say that the most important criterion is the exclusion of sci￭ atica resulting from compression i
mer￭ al￭ gia par￭ a￭ esthe￭ tica
mer￭ al￭ gia pa￭ res￭ the￭ tica or mer￭ al￭ gia par￭ a￭ esthe￭ tica or bern￭ hardt roth syndrome is num￭ b￭ ness or pain in the outer thi￭ gh not caused by injury to the thi￭ gh but by injury to a nerve that extends from the thi￭ gh to the spinal column this chronic neuro￭ logical disorder involves a single nerve — the lateral cu￭ taneous nerve of thi￭ gh which is also called the lateral fem￭ oral cu￭ taneous nerve and hence the syndrome lateral fem￭ oral cu￭ taneous neuro￭ pa￭ thy the term mer￭ al￭ gia par￭ a￭ esthe￭ tica combines four greek roots to mean thi￭ gh pain with anom￭ alous perception
mor￭ ton s neuro￭ ma
mor￭ ton s neuro￭ ma also known as mor￭ ton neuro￭ ma mor￭ ton s met￭ at￭ ar￭ sal￭ gia inter￭ met￭ at￭ ar￭ sal neuro￭ ma and inter￭ met￭ at￭ ar￭ sal space neuro￭ ma is a benign neuro￭ ma of an inter￭ met￭ at￭ ar￭ sal plan￭ tar nerve most commonly of the second and third inter￭ met￭ at￭ ar￭ sal spaces between 2 nd − 3 rd and 3 rd − 4 th met￭ at￭ ar￭ sal heads which results in the entr￭ ap￭ ment of the affected nerve the main symptoms are pain and or num￭ b￭ ness sometimes relieved by removing footwear
ne￭ ur￭ ap￭ ra￭ x￭ ia
ne￭ ur￭ ap￭ ra￭ x￭ ia is a disorder of the peripheral nervous system in which there is a temporary loss of motor and sensory function due to block￭ age of nerve conduc￭ tion usually lasting an average of six to eight weeks before full recovery ne￭ ur￭ ap￭ ra￭ x￭ ia is derived from the word ap￭ ra￭ x￭ ia meaning “ loss or impairment of the ability to execute complex coordinated movements without muscular or sensory impairment ” ne￭ ur￭ ap￭ ra￭ x￭ ia is very common in professional athletes especially american football players and is a condition that can and should be treated by a physician
pol￭ yn￭ euro￭ pa￭ thy
pol￭ yn￭ euro￭ pa￭ thy poly ne￭ uro pa￭ thy is damage or disease affecting peripheral nerves peripheral neuro￭ pa￭ thy in roughly the same areas on both sides of the body featuring weakness num￭ b￭ ness and burning pain it usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonom￭ ic nervous system it may be acute or chronic a number of different disorders may cause pol￭ yn￭ euro￭ pa￭ thy including diabetes and some types of guil￭ lain – bar￭ r￭ é syndrome
char￭ cot – marie – tooth disease
char￭ cot – marie – tooth disease c￭ mt is one of the hereditary motor and sensory neuro￭ path￭ ies a group of varied inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body currently incur￭ able this disease is the most commonly inherited neuro￭ logical disorder and affects approximately 1 in 2 500 people c￭ mt was previously classified as a subtype of muscular dy￭ stro￭ phy
de￭ jer￭ ine – so￭ tt￭ as disease
de￭ jer￭ ine – so￭ tt￭ as disease also known as de￭ jer￭ ine – so￭ tt￭ as syndrome de￭ jer￭ ine – so￭ tt￭ as neuro￭ pa￭ thy progressive hyper￭ troph￭ ic inter￭ sti￭ tial pol￭ yn￭ euro￭ pa￭ thy of childhood and on￭ ion bul￭ b neuro￭ pa￭ thy and hereditary motor and sensory pol￭ yn￭ euro￭ pa￭ thy type iii and char￭ cot – marie – tooth disease type 3 is a hereditary neuro￭ logical disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting the condition is caused by mutations in a various genes and currently has no known cure
ref￭ sum disease
ref￭ sum disease also known as classic or adult ref￭ sum disease here￭ dop￭ ath￭ ia at￭ ac￭ tica poly￭ ne￭ uri￭ ti￭ form￭ is phy￭ tan￭ ic acid oxid￭ ase deficiency and phy￭ tan￭ ic acid storage disease is an auto￭ som￭ al rec￭ essive neuro￭ logical disease that results from the over accumulation of phy￭ tan￭ ic acid in cells and tissues it is one of several disorders named after norwegian neuro￭ logist sig￭ val￭ d bern￭ hard ref￭ sum 1907 – 1991 ref￭ sum disease typically is adoles￭ cent onset and is diagnosed by above average levels of phy￭ tan￭ ic acid humans obtain the necessary phy￭ tan￭ ic acid primarily though diet it is still unclear what function phy￭ tan￭ ic acid plays physi￭ o￭ logically in humans but has been found to regulate fatty acid metabol￭ ism in the liver of mice
guil￭ lain – bar￭ r￭ é syndrome
guil￭ lain – bar￭ r￭ é syndrome g￭ bs is a rapid onset muscle weakness caused by the immune system damaging the peripheral nervous system the initial symptoms are typically changes in sensation or pain along with muscle weakness beginning in the feet and hands this often spreads to the arms and upper body with both sides being involved the symptoms develop over hours to a few weeks during the acute phase the disorder can be life threatening with about 15 developing weakness of the breathing muscles requiring mechanical ventilation some are affected by changes in the function of the autonom￭ ic nervous system which can lead to dangerous ab￭ norm￭ alities in heart rate and blood pressure
guil￭ lain – bar￭ r￭ é syndrome g￭ bs is a rapid onset muscle weakness caused by the immune system damaging the peripheral nervous system the initial symptoms are typically changes in sensation or pain along with muscle weakness beginning in the feet and hands this often spreads to the arms and upper body with both sides being involved the symptoms develop over hours to a few weeks during the acute phase the disorder can be life threatening with about 15 developing weakness of the breathing muscles requiring mechanical ventilation some are affected by changes in the function of the autonom￭ ic nervous system which can lead to dangerous ab￭ norm￭ alities in heart rate and blood pressure the cause is unknown the underlying mechanism involves an auto￭ immune disorder in which the body s immune system mistakenly attacks the peripheral nerves and damages their my￭ elin insulation sometimes this immune dysfunction is triggered by an infection or less commonly surgery or vaccination the diagnosis is usually made based on the signs and symptoms through the exclusion of alternative causes and supported by tests such as nerve conduc￭ tion studies and examination of the cere￭ bro￭ spinal fluid there are a number of sub￭ types based on the areas of weakness results of nerve conduc￭ tion studies and the presence of certain antibio￭ dies it is classified as an acute pol￭ yn￭ euro￭ pa￭ thy in those with severe weakness prompt treatment with intra￭ ven￭ ous immun￭ o￭ glob￭ ul￭ ins or plas￭ map￭ her￭ esis together with supportive care will lead to good recovery in the majority recovery may take weeks to years about a third have some permanent weakness globally death occurs in about 7 5 of those affected guil￭ lain – bar￭ r￭ é syndrome is rare at one or two cases per 100 000 people every year both sexes and all parts of the world have similar rates of disease the syndrome is named after the french neuro￭ logists georg￭ es guil￭ lain and jean alex￭ andre bar￭ r￭ é who described it with andré stro￭ hl in 19￭ 16
multi￭ focal motor neuro￭ pa￭ thy
multi￭ focal motor neuro￭ pa￭ thy m￭ mn is a progressively worsening condition where muscles in the extre￭ mi￭ ties gradually weaken the disorder a pure motor neuro￭ pa￭ thy syndrome is sometimes mistaken for am￭ yo￭ troph￭ ic lateral sclerosis als because of the similarity in the clinical picture especially if muscle fasc￭ icul￭ ations are present m￭ mn is thought to be auto￭ immune it was first described in the mid 1980 s
chronic infl￭ am￭ matory dem￭ yel￭ inating pol￭ yn￭ euro￭ pa￭ thy
small fiber peripheral neuro￭ pa￭ thy
small fiber peripheral neuro￭ pa￭ thy is a type of peripheral neuro￭ pa￭ thy that occurs from damage to the small un￭ my￭ el￭ inated peripheral nerve fi￭ bers these fi￭ bers categ￭ orized as c fi￭ bers are present in skin peripheral nerves and organs the role of these nerves is to in￭ nerv￭ ate the skin som￭ atic fi￭ bers and help control autonom￭ ic function autonom￭ ic fi￭ bers it is estimated that 15 20 million people in the united states suffer from some form of peripheral neuro￭ pa￭ thy
peripheral neuro￭ pa￭ thy
peripheral neuro￭ pa￭ thy p￭ n is damage to or disease affecting nerves which may impair sensation movement g￭ land or organ function or other aspects of health depending on the type of nerve affected common causes include systemic diseases such as diabetes or leprosy vitamin deficiency medication e g chem￭ otherapy traumatic injury radiation therapy excessive alcohol consumption immune system disease co￭ eli￭ ac disease or viral infection it can also be genetic present from birth or idi￭ opathic no known cause in conventional medical usage the word neuro￭ pa￭ thy ne￭ uro nervous system and pa￭ thy disease of without modi￭ fier usually means peripheral neuro￭ pa￭ thy
peripheral neuro￭ pa￭ thy p￭ n is damage to or disease affecting nerves which may impair sensation movement g￭ land or organ function or other aspects of health depending on the type of nerve affected common causes include systemic diseases such as diabetes or leprosy vitamin deficiency medication e g chem￭ otherapy traumatic injury radiation therapy excessive alcohol consumption immune system disease co￭ eli￭ ac disease or viral infection it can also be genetic present from birth or idi￭ opathic no known cause in conventional medical usage the word neuro￭ pa￭ thy ne￭ uro nervous system and pa￭ thy disease of without modi￭ fier usually means peripheral neuro￭ pa￭ thy neuro￭ pa￭ thy affecting just one nerve is called mon￭ on￭ euro￭ pa￭ thy and neuro￭ pa￭ thy involving multiple nerves in roughly the same areas on both sides of the body is called symmetr￭ ical pol￭ yn￭ euro￭ pa￭ thy or simply pol￭ yn￭ euro￭ pa￭ thy when two or more typically just a few but sometimes many separate nerves in disparate areas of the body are affected it is called mon￭ on￭ eur￭ i￭ tis multi￭ pl￭ ex multi￭ focal mon￭ on￭ euro￭ pa￭ thy or multiple mon￭ on￭ euro￭ pa￭ thy peripheral neuro￭ pa￭ thy may be chronic a long term condition where symptoms begin sub￭ tly and progress slowly or acute sudden onset rapid progress and slow resolution acute neuro￭ path￭ ies demand urgent diagnosis motor nerves that control muscles sensory nerves or autonom￭ ic nerves that control automatic functions such as heart rate body temperature and breathing may be affected more than one type of nerve may be affected at the same time peripheral neuro￭ path￭ ies may be classified according to the type of nerve predominantly involved or by the underlying cause neuro￭ pa￭ thy may cause painful cram￭ ps fasc￭ icul￭ ations fine muscle tw￭ it￭ ching muscle loss bone de￭ generation and changes in the skin hair and nails additionally motor neuro￭ pa￭ thy may cause impaired balance and coordination or most commonly muscle weakness sensory neuro￭ pa￭ thy may cause num￭ b￭ ness to touch and vibration reduced position sense causing poorer coordination and balance reduced sensitivity to temperature change and pain spontaneous ting￭ ling or burning pain or skin allo￭ dy￭ nia severe pain from normally non￭ painful stimul￭ i such as light touch and autonom￭ ic neuro￭ pa￭ thy may produce diverse symptoms depending on the affected g￭ lands and organs but common symptoms are poor blad￭ der control abnormal blood pressure or heart rate and reduced ability to sweat normally
my￭ asth￭ enia grav￭ is
my￭ asth￭ enia grav￭ is mg is a long term neuro￭ muscular disease that leads to varying degrees of muscle weakness the most commonly affected muscles are those of the eyes face and sw￭ allowing it can result in double vision dro￭ oping eye￭ li￭ ds trouble talking and trouble walking onset can be sudden those affected often have a large th￭ ym￭ us g￭ land or develop a thy￭ mom￭ a
my￭ asth￭ enia grav￭ is mg is a long term neuro￭ muscular disease that leads to varying degrees of muscle weakness the most commonly affected muscles are those of the eyes face and sw￭ allowing it can result in double vision dro￭ oping eye￭ li￭ ds trouble talking and trouble walking onset can be sudden those affected often have a large th￭ ym￭ us g￭ land or develop a thy￭ mom￭ a my￭ asth￭ enia grav￭ is is an auto￭ immune disease which results from antibodies that block ace￭ ty￭ l￭ ch￭ oline recep￭ tors at the junction between the nerve and muscle this prevents nerve impul￭ ses from triggering muscle contr￭ actions rarely an inherited genetic defect in the neuro￭ muscular junction results in a similar condition known as con￭ genital my￭ asth￭ enia babies of mothers with my￭ asth￭ enia may have symptoms during their first few months of life known as ne￭ on￭ atal my￭ asth￭ enia diagnosis can be supported by blood tests for specific antibodies the ed￭ ro￭ ph￭ on￭ ium test or nerve conduc￭ tion studies my￭ asth￭ enia grav￭ is is generally treated with medications known as ace￭ ty￭ l￭ chol￭ in￭ est￭ erase inhi￭ bit￭ ors such as neo￭ stig￭ mine and py￭ ri￭ do￭ stig￭ mine immun￭ o￭ sup￭ pres￭ s￭ ants such as pred￭ nis￭ one or az￭ ath￭ iop￭ rine may also be used the surgical removal of the th￭ ym￭ us g￭ land may improve symptoms in certain cases plas￭ map￭ her￭ esis and high dose intra￭ ven￭ ous immun￭ o￭ glob￭ ulin may be used during sudden fla￭ res of the condition if the breathing muscles become significantly weak mechanical ventilation may be required my￭ asth￭ enia grav￭ is affects 50 to 200 per million people it is newly diagnosed in 3 to 30 per million people each year diagnosis is becoming more common due to increased awareness it most commonly occurs in women under the age of 40 and in men over the age of 60 it is un￭ common in children with treatment most of those affected lead relatively normal lives and have a normal life expectancy the word is from the greek μ￭ ύ￭ ς muscle and asth￭ enia weakness and the latin grav￭ is serious
con￭ genital my￭ asth￭ en￭ ic syndrome
con￭ genital my￭ asth￭ en￭ ic syndrome c￭ ms is an inherited neuro￭ muscular disorder caused by defects of several types at the neuro￭ muscular junction the effects of the disease are similar to lambert e￭ aton syndrome and my￭ asth￭ enia grav￭ is the difference being that c￭ ms is not an auto￭ immune disorder
my￭ opathy
my￭ opathy is a muscular disease in which the muscle fi￭ bers do not function for any one of many reasons resulting in muscular weakness my￭ opathy simply means muscle disease my￭ o greek μ￭ υ￭ ο muscle path￭ os pa￭ thy greek suffering this meaning implies that the primary defect is within the muscle as opposed to the nerves neuro￭ path￭ ies or neuro￭ genic disorders or elsewhere e g the brain etc muscle cram￭ ps sti￭ ff￭ ness and sp￭ asm can also be associated with my￭ opathy
my￭ opathy is a muscular disease in which the muscle fi￭ bers do not function for any one of many reasons resulting in muscular weakness my￭ opathy simply means muscle disease my￭ o greek μ￭ υ￭ ο muscle path￭ os pa￭ thy greek suffering this meaning implies that the primary defect is within the muscle as opposed to the nerves neuro￭ path￭ ies or neuro￭ genic disorders or elsewhere e g the brain etc muscle cram￭ ps sti￭ ff￭ ness and sp￭ asm can also be associated with my￭ opathy capture my￭ opathy or shock disease is a little studied condition observed in wild animals such as ha￭ res and birds that have been captured or handled the condition is usually lethal and stress has been identified as the single most determining factor exacerbated by muscle exer￭ tion muscular disease can be classified as neuro￭ muscular or mus￭ cul￭ osk￭ el￭ etal in nature some conditions such as my￭ osi￭ tis can be considered both neuro￭ muscular and mus￭ cul￭ osk￭ el￭ etal
muscular dy￭ stro￭ phy
muscular dy￭ stro￭ phy md is a group of muscle diseases that results in increasing weakening and breakdown of sk￭ el￭ etal muscles over time the disorders differ in which muscles are primarily affected the degree of weakness how fast they worsen and when symptoms begin many people eventually become unable to walk some types are also associated with problems in other organs
muscular dy￭ stro￭ phy md is a group of muscle diseases that results in increasing weakening and breakdown of sk￭ el￭ etal muscles over time the disorders differ in which muscles are primarily affected the degree of weakness how fast they worsen and when symptoms begin many people eventually become unable to walk some types are also associated with problems in other organs there are nine main categories of muscular dy￭ stro￭ phy that contain more than thirty specific types the most common type is du￭ chen￭ ne muscular dy￭ stro￭ phy d￭ md which typically affects males beginning around the age of four other types include bec￭ ker muscular dy￭ stro￭ phy fac￭ i￭ os￭ cap￭ ul￭ o￭ hum￭ eral muscular dy￭ stro￭ phy and my￭ o￭ tonic dy￭ stro￭ phy they are due to mutations in genes that are involved in making muscle proteins this can occur due to either inher￭ iting the defect from one s parents or the mutation occurring during early development disorders may be x linked rec￭ essive auto￭ som￭ al rec￭ essive or auto￭ som￭ al dominant diagnosis often involves blood tests and genetic testing there is no cure for muscular dy￭ stro￭ phy physical therapy brac￭ es and corrective surgery may help with some symptoms assisted ventilation may be required in those with weakness of breathing muscles medications used include ster￭ oids to slow muscle de￭ generation anti￭ con￭ vul￭ s￭ ants to control seizures and some muscle activity and immun￭ o￭ sup￭ pres￭ s￭ ants to delay damage to dying muscle cells outcomes depend on the specific type of disorder du￭ chen￭ ne muscular dy￭ stro￭ phy which represents about half of all cases of muscular dy￭ stro￭ phy affects about one in 5 000 males at birth muscular dy￭ stro￭ phy was first described in the 18￭ 30 s by charles bell the word dy￭ stro￭ phy is from the greek d￭ ys meaning difficult and tro￭ ph meaning nour￭ ish gene therapy as a treatment is in the early stages of study in humans
du￭ chen￭ ne muscular dy￭ stro￭ phy
du￭ chen￭ ne muscular dy￭ stro￭ phy d￭ md is a severe type of muscular dy￭ stro￭ phy the symptom of muscle weakness usually begin around the age of four in boys and wor￭ sens quickly typically muscle loss occurs first in the upper legs and pel￭ vis followed by those of the upper arms this can result in trouble standing up most are unable to walk by the age of twelve affected muscles may look larger due to increased fat content sco￭ li￭ osis is also common some may have intellectual disability females with a single copy of the defective gene may show mild symptoms
limb gir￭ dle muscular dy￭ stro￭ phy
emer￭ y – dre￭ if￭ uss muscular dy￭ stro￭ phy
emer￭ y – dre￭ if￭ uss muscular dy￭ stro￭ phy is a condition that mainly affects muscles used for movement such as sk￭ el￭ etal muscles and also affects the cardiac muscle it is named after alan eg￭ lin h emer￭ y and fr￭ itz e dre￭ if￭ uss
bec￭ ker s muscular dy￭ stro￭ phy
fac￭ i￭ os￭ cap￭ ul￭ o￭ hum￭ eral muscular dy￭ stro￭ phy
fac￭ i￭ os￭ cap￭ ul￭ o￭ hum￭ eral muscular dy￭ stro￭ phy f￭ sh￭ md f￭ sh￭ d or f￭ sh — originally named lan￭ dou￭ zy de￭ jer￭ ine — is a usually auto￭ som￭ al dominant inherited form of muscular dy￭ stro￭ phy md that initially affects the sk￭ el￭ etal muscles of the face fac￭ io s￭ cap￭ ula s￭ cap￭ ul￭ o and upper arms hum￭ eral f￭ sh￭ d is the third most common genetic disease of sk￭ el￭ etal muscle orph￭ a net lists the prevalence as 4 100 000 while a 2014 population based study in the netherlands reported a significantly higher prevalence of 12 in 100 000
fac￭ i￭ os￭ cap￭ ul￭ o￭ hum￭ eral muscular dy￭ stro￭ phy f￭ sh￭ md f￭ sh￭ d or f￭ sh — originally named lan￭ dou￭ zy de￭ jer￭ ine — is a usually auto￭ som￭ al dominant inherited form of muscular dy￭ stro￭ phy md that initially affects the sk￭ el￭ etal muscles of the face fac￭ io s￭ cap￭ ula s￭ cap￭ ul￭ o and upper arms hum￭ eral f￭ sh￭ d is the third most common genetic disease of sk￭ el￭ etal muscle orph￭ a net lists the prevalence as 4 100 000 while a 2014 population based study in the netherlands reported a significantly higher prevalence of 12 in 100 000 symptoms may develop in early childhood and are usually noticeable in the teenage years with 95 of affected individuals manifest￭ ing disease by age 20 years a progressive sk￭ el￭ etal muscle weakness usually develops in other areas of the body as well often the weakness is asymmetrical life expectancy can be threatened by respiratory in￭ sufficiency and up to 20 of affected individuals become severely disabled requiring use of a wheel chair or mobility scoo￭ ter in a dutch study approximately 1 of patients required no￭ c￭ tur￭ nal or di￭ ur￭ nal venti￭ lat￭ ory support non muscular symptoms frequently associated with f￭ sh￭ d include sub￭ clinical sens￭ or￭ in￭ eur￭ al hearing loss and re￭ tin￭ al tel￭ an￭ gi￭ ec￭ ta￭ sia in more than 95 of known cases the disease is associated with contraction of the d 4 z 4 repeat in the 4 q 35 sub￭ tel￭ om￭ eric region of chro￭ mo￭ some 4 sem￭ inal research published in august 2010 now shows the disease requires a second mechanism which for the first time provides for its underlying genetics the second mechanism is a toxic gain of function of the du￭ x 4 gene which is the first time in genetic research that a dead gene has been found to wake up and cause disease building on the 2010 unified theory of f￭ sh￭ d researchers in 2014 published the first proposed path￭ op￭ hy￭ si￭ ology definition of the disease and four viable therapeutic targets for possible intervention points
my￭ o￭ tonic dy￭ stro￭ phy
my￭ o￭ tonic dy￭ stro￭ phy is a long term genetic disorder that affects muscle function symptoms include gradually worsening muscle loss and weakness often muscle contract and are unable to relax other symptoms may include cat￭ ar￭ acts intellectual disability and heart conduc￭ tion problems in men their may be early bal￭ ding and an inability to have children
neuro￭ my￭ o￭ ton￭ ia
neuro￭ my￭ o￭ ton￭ ia n￭ mt also known as isa￭ acs syndrome and isa￭ acs mer￭ ton syndrome is a form of peripheral nerve hyper￭ exc￭ itability that causes spontaneous muscular activity resulting from repeti￭ tive motor unit action pot￭ entials of peripheral origin prevalence is unknown but 100 – 200 cases have been reported so far
my￭ o￭ ton￭ ia
my￭ o￭ ton￭ ia my￭ o from greek muscle and ton￭ us from latin tension is a symptom of a small handful of certain neuro￭ muscular disorders characterized by delayed relaxation prolonged contraction of the sk￭ el￭ etal muscles after voluntary contraction or electrical stimulation my￭ o￭ ton￭ ia is present in my￭ o￭ ton￭ ia con￭ gen￭ ita param￭ yo￭ ton￭ ia con￭ gen￭ ita and my￭ o￭ tonic dy￭ stro￭ phy my￭ o￭ ton￭ ia can affect all muscle groups however the pattern of affected muscles can vary depending on the specific disorder involved
my￭ o￭ ton￭ ia my￭ o from greek muscle and ton￭ us from latin tension is a symptom of a small handful of certain neuro￭ muscular disorders characterized by delayed relaxation prolonged contraction of the sk￭ el￭ etal muscles after voluntary contraction or electrical stimulation my￭ o￭ ton￭ ia is present in my￭ o￭ ton￭ ia con￭ gen￭ ita param￭ yo￭ ton￭ ia con￭ gen￭ ita and my￭ o￭ tonic dy￭ stro￭ phy generally repeated contraction of the muscle can alleviate the my￭ o￭ ton￭ ia and relax the muscles thus improving the condition however this is not the case in param￭ yo￭ ton￭ ia con￭ gen￭ ita this phenomenon is known as warm up and is not to be confused with warming up before exercise though they may appear similar individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff awkward ga￭ it my￭ o￭ ton￭ ia can affect all muscle groups however the pattern of affected muscles can vary depending on the specific disorder involved people suffering from disorders involving my￭ o￭ ton￭ ia can have a life threatening reaction to certain ana￭ esthe￭ tics one of these conditions occurs when the patient is under anaesthetic and is termed m￭ align￭ ant hyper￭ ther￭ mia
my￭ o￭ ton￭ ia con￭ gen￭ ita
param￭ yo￭ ton￭ ia con￭ gen￭ ita
param￭ yo￭ ton￭ ia con￭ gen￭ ita pc also known as param￭ yo￭ ton￭ ia con￭ gen￭ ita of von eul￭ enburg or eul￭ enburg disease is a rare con￭ genital auto￭ som￭ al dominant neuro￭ muscular disorder characterized by “ paradoxical ” my￭ o￭ ton￭ ia this type of my￭ o￭ ton￭ ia has been termed paradoxical because it becomes worse with exercise whereas classical my￭ o￭ ton￭ ia as seen in my￭ o￭ ton￭ ia con￭ gen￭ ita is allevi￭ ated by exercise pc is also distinguished as it can be induced by cold temperatures although more typical of the periodic paraly￭ tic disorders patients with pc may also have potassium provoked paralysis pc typically presents within the first decade of life and has 100 penetr￭ ance patients with this disorder commonly present with my￭ o￭ ton￭ ia in the face or upper extre￭ mi￭ ties the lower extre￭ mi￭ ties are generally less affected while
fuku￭ y￭ ama con￭ genital muscular dy￭ stro￭ phy
fuku￭ y￭ ama con￭ genital muscular dy￭ stro￭ phy f￭ c￭ md is a rare auto￭ som￭ al rec￭ essive form of muscular dy￭ stro￭ phy weakness and breakdown of muscular tissue mainly described in japan but also identified in turkish and ash￭ ken￭ az￭ i jewish patients fifteen cases were first described on 1960 by fuku￭ y￭ ama
cent￭ ron￭ uc￭ lear my￭ opathy
cent￭ ron￭ uc￭ lear my￭ opath￭ ies cn￭ m are a group of con￭ genital my￭ opath￭ ies where cell nucle￭ i are abnormally located in sk￭ el￭ etal muscle cells in cn￭ m the nucle￭ i are located at a position in the center of the cell instead of their normal location at the periphery symptoms of cn￭ m include severe hy￭ pot￭ onia hypo￭ x￭ ia requiring breathing assistance and s￭ cap￭ ho￭ cephal￭ y among cent￭ ron￭ uc￭ lear my￭ opath￭ ies the x linked my￭ o￭ tu￭ bul￭ ar my￭ opathy form typically presents at birth and is thus considered a con￭ genital my￭ opathy however some cent￭ ron￭ uc￭ lear my￭ opath￭ ies may present later in life
central core disease
central core disease cc￭ d also known as central core my￭ opathy is an auto￭ som￭ al dominant con￭ genital my￭ opathy in￭ born muscle disorder it was first described by shy and mag￭ ee in 1956 it is characterized by the appearance of the my￭ o￭ fi￭ bri￭ l under the micro￭ scope
nem￭ al￭ ine my￭ opathy
nem￭ al￭ ine my￭ opathy also called rod my￭ opathy or nem￭ al￭ ine rod my￭ opathy is a con￭ genital hereditary neuro￭ muscular disorder with many symptoms that can occur such as muscle weakness hypo￭ ventilation sw￭ allowing dysfunction and impaired speech ability the severity of these symptoms varies and can change throughout one s life to some extent the prevalence is estimated at 1 in 50 000 live births it is the most common non dy￭ stro￭ ph￭ ic my￭ opathy nem￭ al￭ ine my￭ opathy is one of the neuro￭ muscular diseases covered by the muscular dy￭ stro￭ phy association in the united states
brody my￭ opathy
brody my￭ opathy is a genetic disease it can be associated with at￭ p 2 a 1 it was characterized in 1969
periodic paralysis
periodic paralysis also known as myop￭ legi￭ a par￭ oxy￭ sm￭ alis famili￭ aris is a group of rare genetic diseases that lead to weakness or paralysis rarely death from common triggers such as cold heat high carbo￭ hydrate meals not eating stress or excitement and physical activity of any kind the underlying mechanism of these diseases are mal￭ functions in the ion channels in sk￭ el￭ etal muscle cell memb￭ ran￭ es that allow electrically charged ions to leak in or out of the muscle cell causing the cell to de￭ pol￭ arize and become unable to move a chann￭ el￭ opathy
lambert – e￭ aton my￭ asth￭ en￭ ic syndrome
lambert – e￭ aton my￭ asth￭ en￭ ic syndrome l￭ ems also lambert – e￭ aton syndrome or e￭ aton – lambert syndrome is a rare auto￭ immune disorder that is characterized by muscle weakness of the limbs it is the result of an auto￭ immune reaction in which antibodies are formed against pres￭ yn￭ ap￭ tic voltage gated calcium channels and likely other nerve terminal proteins in the neuro￭ muscular junction the connection between nerves and the muscle that they supply the prevalence is 3 4 cases per million around 60 of those with l￭ ems have an underlying m￭ align￭ ancy most commonly small cell lung cancer it is therefore regarded as a par￭ ane￭ op￭ l￭ astic syndrome a condition that arises as a result of cancer elsewhere in the body
lambert – e￭ aton my￭ asth￭ en￭ ic syndrome l￭ ems also lambert – e￭ aton syndrome or e￭ aton – lambert syndrome is a rare auto￭ immune disorder that is characterized by muscle weakness of the limbs it is the result of an auto￭ immune reaction in which antibodies are formed against pres￭ yn￭ ap￭ tic voltage gated calcium channels and likely other nerve terminal proteins in the neuro￭ muscular junction the connection between nerves and the muscle that they supply the prevalence is 3 4 cases per million around 60 of those with l￭ ems have an underlying m￭ align￭ ancy most commonly small cell lung cancer it is therefore regarded as a par￭ ane￭ op￭ l￭ astic syndrome a condition that arises as a result of cancer elsewhere in the body l￭ ems usually occurs in people over 40 years of age but it may occur any age the diagnosis is usually confirmed with electro￭ my￭ o￭ graphy and blood tests these also distinguish it from my￭ asth￭ enia grav￭ is mg a related auto￭ immune neuro￭ muscular disease if the disease is associated with cancer direct treatment of the cancer often reliev￭ es the symptoms of l￭ ems other treatments often used are ster￭ oids az￭ ath￭ iop￭ rine which suppress the immune system intra￭ ven￭ ous immun￭ o￭ glob￭ ulin which out￭ compe￭ tes auto￭ reactive anti￭ body from fc recep￭ tors and py￭ ri￭ do￭ stig￭ mine and 3 4 diam￭ in￭ op￭ y￭ ri￭ dine which enhance the neuro￭ muscular transmission occasionally plasma exchange is required to remove the antibodies
par￭ ap￭ legi￭ a
par￭ ap￭ legi￭ a is an impairment in motor or sensory function of the lower extre￭ mi￭ ties the word comes from ion￭ ic greek παρ￭ απ￭ λη￭ γ￭ ί￭ η half striking it is usually caused by spinal cord injury or a con￭ genital condition such as sp￭ ina bi￭ fi￭ da that affects the ne￭ ural elements of the spinal canal the area of the spinal canal that is affected in par￭ ap￭ legi￭ a is either the thor￭ ac￭ ic lum￭ bar or sac￭ ral regions common victims of this impairment are veterans or members of the armed forces if four limbs are affected by paralysis tetr￭ ap￭ legi￭ a or quad￭ ri￭ ple￭ gia is the correct term if only one limb is affected the correct term is mon￭ op￭ legi￭ a
par￭ ap￭ legi￭ a is an impairment in motor or sensory function of the lower extre￭ mi￭ ties the word comes from ion￭ ic greek παρ￭ απ￭ λη￭ γ￭ ί￭ η half striking it is usually caused by spinal cord injury or a con￭ genital condition such as sp￭ ina bi￭ fi￭ da that affects the ne￭ ural elements of the spinal canal the area of the spinal canal that is affected in par￭ ap￭ legi￭ a is either the thor￭ ac￭ ic lum￭ bar or sac￭ ral regions common victims of this impairment are veterans or members of the armed forces if four limbs are affected by paralysis tetr￭ ap￭ legi￭ a or quad￭ ri￭ ple￭ gia is the correct term if only one limb is affected the correct term is mon￭ op￭ legi￭ a sp￭ astic par￭ ap￭ legi￭ a is a form of par￭ ap￭ legi￭ a defined by sp￭ as￭ tic￭ ity of the affected muscles rather than fl￭ acci￭ d paralysis
tetr￭ ap￭ legi￭ a
tetr￭ ap￭ legi￭ a also known as quad￭ ri￭ ple￭ gia is paralysis caused by illness or injury that results in the partial or total loss of use of all four limbs and tor￭ so par￭ ap￭ legi￭ a is similar but does not affect the arms the loss is usually sensory and motor which means that both sensation and control are lost tetr￭ ap￭ a￭ res￭ is or quad￭ ri￭ pa￭ res￭ is on the other hand means muscle weakness affecting all four limbs it may be fl￭ acci￭ d or sp￭ astic
c￭ aud￭ a equ￭ ina syndrome
brown sé￭ qu￭ ard syndrome
famili￭ al dys￭ autonom￭ ia
famili￭ al dys￭ autonom￭ ia fd sometimes called ri￭ ley – day syndrome and hereditary sensory and autonom￭ ic neuro￭ pa￭ thy type iii h￭ san iii is a disorder of the autonom￭ ic nervous system which affects the development and survival of sensory sympathetic and some paras￭ ymp￭ athetic neurons in the autonom￭ ic and sensory nervous system resulting in variable symptoms including in￭ sensitivity to pain inability to produce tears poor growth and lab￭ ile blood pressure ep￭ is￭ od￭ ic hyper￭ tension and post￭ ural hypo￭ tension people with fd have frequent v￭ om￭ iting crises pneumonia problems with speech and movement difficulty sw￭ allowing inappropriate perception of heat pain and taste as well as unstable blood pressure and gastro￭ intest￭ inal dys￭ mo￭ ti￭ lity fd does not affect intelligence originally reported by con￭ r
hor￭ ner s syndrome
hor￭ ner s syndrome is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged the signs and symptoms occur on the same side as the le￭ sion of the sympathetic trunk it is characterized by mi￭ osis a con￭ stric￭ ted pupil pto￭ sis a weak dro￭ op￭ y eye￭ lid apparent an￭ hi￭ dro￭ sis decreased swe￭ ating with or without en￭ oph￭ thal￭ mos in￭ set eye￭ ball
hor￭ ner s syndrome is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged the signs and symptoms occur on the same side as the le￭ sion of the sympathetic trunk it is characterized by mi￭ osis a con￭ stric￭ ted pupil pto￭ sis a weak dro￭ op￭ y eye￭ lid apparent an￭ hi￭ dro￭ sis decreased swe￭ ating with or without en￭ oph￭ thal￭ mos in￭ set eye￭ ball the nerves of the sympathetic trunk arise from the spinal cord in the chest and from there asc￭ end to the neck and face the nerves are part of the sympathetic nervous system a part of the autonom￭ ic or involuntary nervous system once the syndrome has been recognized medical imaging and response to particular eye drops may be required to identify the location of the problem and the underlying cause
multiple system atro￭ phy
multiple system atro￭ phy m￭ sa is a degenerative neuro￭ logical disorder that depic￭ ts a group of disorders characterised by the neuro￭ nal de￭ generation mainly in the substan￭ tia ni￭ gra stri￭ at￭ um autonom￭ ic nervous system and cere￭ bell￭ um following a report in 1964 of what was then called stri￭ at￭ oni￭ gr￭ al de￭ generation many patients were recognised in whom the changes of stri￭ at￭ oni￭ gr￭ al and oli￭ v￭ op￭ on￭ to￭ cere￭ bell￭ ar de￭ generation were combined and who had symptoms and signs of cere￭ bell￭ ar at￭ ax￭ ia and par￭ k￭ ins￭ onian manifestations more than half of the patients with stri￭ at￭ oni￭ gr￭ al de￭ generation have orth￭ o￭ static hypo￭ tension which proves at autopsy to be associated with loss of intermedi￭ ol￭ ateral horn cells origin of the pres￭ yn￭ ap￭ tic chol￭ iner￭ gic sympathetic neuro￭ nes and of pi￭ gm￭ ented nucle￭ i of the bra￭ inst￭ em
hydro￭ cephal￭ us
hydro￭ cephal￭ us is a condition in which there is an abnormal accumulation of cere￭ bro￭ spinal fluid c￭ sf within the brain this typically causes increased pressure inside the skull older people may have headaches double vision poor balance ur￭ inary in￭ contin￭ ence personality changes or mental impairment in babies there may be a rapid increase in head size other symptoms may include v￭ om￭ iting sleep￭ iness seizures and downward pointing of the eyes
normal pressure hydro￭ cephal￭ us
chor￭ o￭ id plex￭ us cyst
chor￭ o￭ id plex￭ us cy￭ sts cp￭ cs are cy￭ sts that occur within chor￭ o￭ id plex￭ us of the brain the brain contains pockets or spaces called ven￭ tric￭ les with a spon￭ gy layer of cells and blood vessels called the chor￭ o￭ id plex￭ us this is in the middle of the fe￭ tal brain the chor￭ o￭ id plex￭ us has the important function of producing cere￭ bro￭ spinal fluid the fluid produced by the cells of the chor￭ o￭ id plex￭ us fills the ven￭ tric￭ les and then flows around the brain and the spinal cord to provide a cushion of fluid around these structures
ar￭ ach￭ no￭ id cyst
ar￭ ach￭ no￭ id cy￭ sts are cere￭ bro￭ spinal fluid covered by ar￭ ach￭ no￭ idal cells and coll￭ agen that may develop between the surface of the brain and the cran￭ ial base or on the ar￭ ach￭ no￭ id memb￭ rane one of the three memb￭ ran￭ es that cover the brain and the spinal cord ar￭ ach￭ no￭ id cy￭ sts are a con￭ genital disorder and most cases begin during infancy however onset may be delayed until adoles￭ cence
po￭ ren￭ cephal￭ y
po￭ ren￭ cephal￭ y is an extremely rare cephal￭ ic disorder involving encephal￭ om￭ al￭ ac￭ ia it is a neuro￭ logical disorder of the central nervous system characterized by cy￭ sts or ca￭ vities within the cere￭ br￭ al hemisphere po￭ ren￭ cephal￭ y was termed by hes￭ ch￭ l in 1859 to describe a cav￭ ity in the human brain the cy￭ sts and ca￭ vities are usually the result of destructive or c￭ ys￭ tic brain le￭ sions but can also be from abnormal development direct damage infl￭ amm￭ ation or hemorrha￭ ge the cy￭ sts and ca￭ vities cause a wide range of physiological physical and neuro￭ logical symptoms depending on the patient this disorder may cause only minor neuro￭ logical problems without any disruption on intelligence while others may be severely disabled or face death before the second decade of their lives however this disorder i
po￭ ren￭ cephal￭ y is an extremely rare cephal￭ ic disorder involving encephal￭ om￭ al￭ ac￭ ia it is a neuro￭ logical disorder of the central nervous system characterized by cy￭ sts or ca￭ vities within the cere￭ br￭ al hemisphere po￭ ren￭ cephal￭ y was termed by hes￭ ch￭ l in 1859 to describe a cav￭ ity in the human brain the cy￭ sts and ca￭ vities are usually the result of destructive or c￭ ys￭ tic brain le￭ sions but can also be from abnormal development direct damage infl￭ amm￭ ation or hemorrha￭ ge the cy￭ sts and ca￭ vities cause a wide range of physiological physical and neuro￭ logical symptoms depending on the patient this disorder may cause only minor neuro￭ logical problems without any disruption on intelligence while others may be severely disabled or face death before the second decade of their lives however this disorder is far more common within infants and po￭ ren￭ cephal￭ y can occur in both before or after birth
idi￭ opathic in￭ trac￭ ran￭ ial hyper￭ tension
idi￭ opathic in￭ trac￭ ran￭ ial hyper￭ tension ii￭ h sometimes called by the older names benign in￭ trac￭ ran￭ ial hyper￭ tension bih or pseu￭ do￭ tumor cere￭ br￭ i pt￭ c is a neuro￭ logical disorder that is characterized by increased in￭ trac￭ ran￭ ial pressure pressure around the brain in the absence of a tumor or other diseases the main symptoms are stroke like headache naus￭ ea and v￭ om￭ iting as well as pul￭ sati￭ le tin￭ nit￭ us sounds perceived in the ears with the sound occurring in the same rhythm as the pulse double vision and other visual symptoms if untreated it may lead to sw￭ elling of the op￭ tic dis￭ c in the eye which can progress to vision loss
idi￭ opathic in￭ trac￭ ran￭ ial hyper￭ tension ii￭ h sometimes called by the older names benign in￭ trac￭ ran￭ ial hyper￭ tension bih or pseu￭ do￭ tumor cere￭ br￭ i pt￭ c is a neuro￭ logical disorder that is characterized by increased in￭ trac￭ ran￭ ial pressure pressure around the brain in the absence of a tumor or other diseases the main symptoms are stroke like headache naus￭ ea and v￭ om￭ iting as well as pul￭ sati￭ le tin￭ nit￭ us sounds perceived in the ears with the sound occurring in the same rhythm as the pulse double vision and other visual symptoms if untreated it may lead to sw￭ elling of the op￭ tic dis￭ c in the eye which can progress to vision loss ii￭ h is diagnosed with a brain scan to rule out other causes and a lum￭ bar punc￭ ture lum￭ bar punc￭ ture may also provide temporary and sometimes permanent relief from the symptoms some respond to medication with the drug ace￭ ta￭ z￭ ol￭ amide top￭ ir￭ am￭ ate fu￭ ro￭ sem￭ ide others or a combination but others require surgery to relieve the pressure the condition may occur in all age groups but is most common in women aged 20 – 40
pneu￭ mo￭ cephal￭ us
pneu￭ mo￭ cephal￭ us is the presence of air or gas within the cran￭ ial cav￭ ity it is usually associated with disruption of the skull after head and facial trauma tumors of the skull base after neuro￭ surgery or o￭ tor￭ hin￭ ol￭ ar￭ yn￭ go￭ logy and rarely spontaneously pneu￭ mo￭ cephal￭ us can occur in s￭ cuba diving but is very rare in this context if there is a valve mechanism which allows air to enter the skull but prevents it from escaping a tension pneu￭ mo￭ cephal￭ us can occur similar to what can happen in a tension pneu￭ mo￭ thor￭ ax
pneu￭ mo￭ cephal￭ us is the presence of air or gas within the cran￭ ial cav￭ ity it is usually associated with disruption of the skull after head and facial trauma tumors of the skull base after neuro￭ surgery or o￭ tor￭ hin￭ ol￭ ar￭ yn￭ go￭ logy and rarely spontaneously pneu￭ mo￭ cephal￭ us can occur in s￭ cuba diving but is very rare in this context if there is a valve mechanism which allows air to enter the skull but prevents it from escaping a tension pneu￭ mo￭ cephal￭ us can occur similar to what can happen in a tension pneu￭ mo￭ thor￭ ax ct sc￭ ans of patients with a tension pneu￭ mo￭ cephal￭ us typically show air that com￭ presses the frontal lob￭ es of the brain which results in a t￭ ented appearance of the brain in the skull known as the mount fu￭ ji sign the name is derived from the resemblance of the brain to mount fu￭ ji in japan a volcano known for its symmetr￭ ical cone in typical cases there is a symmetr￭ ical depression near the mid￭ line such as the cr￭ ater of a volcano due to intact bridging ve￭ ins its occurrence seems to be limited to tension pneu￭ mo￭ cephal￭ us not occurring in pneu￭ mo￭ cephal￭ us without tension the sign was first described by a team of japanese neuro￭ surgeons pneu￭ mo￭ cephal￭ us has also been shown to follow neuro￭ surgical procedures such as deep brain stimulation where while seemingly inno￭ cu￭ ous to the patient may cause brain shift and subsequent stere￭ ot￭ actic in￭ accuracy efforts are made by neuro￭ surgeons to reduce pneu￭ mo￭ cephal￭ us volume during surgery and thus subsequent brain shift
chronic fatigue syndrome
chronic fatigue syndrome cf￭ s is a medical condition characterized by long term fatigue and other symptoms that limit a person s ability to carry out ordinary daily activities quality of life of persons with cf￭ s can be compromised biological genetic infectious and psychological mechanisms have been proposed but the cause is not understood the fatigue of cf￭ s is not due to ongoing exer￭ tion is not much relieved by rest and is not due to any other medical condition diagnosis is based on a person s signs and symptoms
chronic fatigue syndrome cf￭ s is a medical condition characterized by long term fatigue and other symptoms that limit a person s ability to carry out ordinary daily activities quality of life of persons with cf￭ s can be compromised biological genetic infectious and psychological mechanisms have been proposed but the cause is not understood the fatigue of cf￭ s is not due to ongoing exer￭ tion is not much relieved by rest and is not due to any other medical condition diagnosis is based on a person s signs and symptoms evidence suggests that cognitive behavioral therapy and a gradual increase in activity suited to individual capacity can be beneficial in some cases the medication r￭ int￭ ato￭ li￭ mod may be useful for certain people estimates of the number of people with the condition vary from 7 to 3 000 per 100 000 adults about one million americans and a quarter of a million people in the uk have cf￭ s fatigue is a common symptom in many illnesses but the fatigue experienced by persons with cf￭ s is comparatively rare cf￭ s occurs more often in women than men and is less common among children and adolescents there is agreement that cf￭ s has a negative effect on health happiness and productivity but there is also controversy over many aspects of the disorder physicians researchers and patient advocates promote different names and diagnostic criteria while evidence for proposed causes and treatments is often contradictory or of low quality
encephalopathy
brain her￭ ni￭ ation
brain her￭ ni￭ ation is a potentially deadly side effect of very high pressure within the skull that occurs when a part of the brain is squeezed across structures within the skull the brain can shift across such structures as the fal￭ x cere￭ br￭ i the tent￭ orium cere￭ b￭ elli and even through the for￭ amen magn￭ um the hole in the base of the skull through which the spinal cord connects with the brain her￭ ni￭ ation can be caused by a number of factors that cause a mass effect and increase in￭ trac￭ ran￭ ial pressure ic￭ p these include traumatic brain injury in￭ trac￭ ran￭ ial hemorrha￭ ge or brain tumor
cere￭ br￭ al e￭ dem￭ a
cere￭ br￭ al e￭ dem￭ a or cere￭ br￭ al oe￭ dem￭ a is excess accumulation of fluid in the in￭ trac￭ ell￭ ular or ex￭ trac￭ ell￭ ular spaces of the brain
re￭ ye syndrome
re￭ ye syndrome is a rapidly progressive encephalopathy symptoms may include v￭ om￭ iting personality changes confusion seizures and loss of consciousness even though liver toxicity typically occurs yel￭ low￭ ish skin usually does not death occurs in 20 40 of those affected and about a third of those who survive are left with a significant degree of brain damage
locked in syndrome
de￭ jer￭ ine – ro￭ ussy syndrome
de￭ jer￭ ine – ro￭ ussy syndrome or thal￭ am￭ ic pain syndrome is a condition developed after a thal￭ am￭ ic stroke a stroke causing damage to the thal￭ am￭ us is￭ chem￭ ic stro￭ kes and hemorrha￭ gic stro￭ kes can cause le￭ sion￭ ing in the thal￭ am￭ us the le￭ sions usually present in one hemisphere of the brain most often cause an initial lack of sensation and ting￭ ling in the opposite side of the body weeks to months later num￭ b￭ ness can develop into severe and chronic pain that is not proportional to an environmental stimulus called dy￭ sa￭ esthesia or allo￭ dy￭ nia as initial stroke symptoms num￭ b￭ ness and ting￭ ling dissip￭ ate an imbalance in sensation causes these later syndro￭ mes character￭ izing de￭ jer￭ ine – ro￭ ussy syndrome although some treatments exist they are often expensive chemically based invasive and only treat pati
syr￭ ing￭ om￭ ye￭ lia
syr￭ ing￭ om￭ ye￭ lia s￭ ᵻ￭ ˌ￭ r￭ ɪ￭ ŋ￭ ɡ￭ ə￭ ma￭ ɪ￭ ˈ￭ i￭ ː￭ li￭ ə ɡ￭ o￭ ʊ is a generic term referring to a disorder in which a cyst or cav￭ ity forms within the spinal cord this cyst called a syr￭ in￭ x can expand and el￭ ong￭ ate over time destroying the spinal cord the damage may result in pain paralysis weakness and sti￭ ff￭ ness in the back shoulders and extre￭ mi￭ ties syr￭ ing￭ om￭ ye￭ lia may also cause a loss of the ability to feel extremes of hot or cold especially in the hands there is also a disorder that generally leads to a cape like pain extreme pain pressure and many other painful symptoms in the area where a cape would be and temperature sensation along the back and arms each patient experiences a different combination of symptoms these symptoms typically vary depending on the extent and often more critically
spinal cord injury
a spinal cord injury sc￭ i is damage to the spinal cord that causes changes in its function either temporary or permanent these changes translate into loss of muscle function sensation or autonom￭ ic function in parts of the body served by the spinal cord below the level of the le￭ sion injuries can occur at any level of the spinal cord and can be classified as complete injury a total loss of sensation and muscle function or incomplete meaning some nervous signals are able to travel past the injured area of the cord depending on the location and severity of damage along the spinal cord the symptoms can vary widely from pain or num￭ b￭ ness to paralysis to in￭ contin￭ ence the prog￭ no￭ sis also ranges widely from full recovery in rare cases to permanent tetr￭ ap￭ legi￭ a also called quad￭ ri￭ ple￭ gia
ker￭ ati￭ tis – ich￭ thy￭ osis – deaf￭ ness syndrome
su￭ be￭ pend￭ ym￭ al giant cell astro￭ cy￭ tom￭ a
su￭ be￭ pend￭ ym￭ al giant cell astro￭ cy￭ tom￭ a se￭ ga sg￭ ca or sg￭ ct is a low grade astro￭ cy￭ tic brain tumor astro￭ cy￭ tom￭ a that arises within the ven￭ tric￭ les of the brain it is most commonly associated with tuber￭ ous sclerosis complex ts￭ c although it is a low grade tumor its location can potentially obstruct the ven￭ tric￭ les and lead to hydro￭ cephal￭ us
z￭ un￭ ich – k￭ aye syndrome
st￭ ye
st￭ ye also known as hor￭ de￭ ol￭ um is an infection of an oil g￭ land in the eye￭ lid this results in a red tender bump at the edge of the eye￭ lid the outside or the inside of the eye￭ lid can be affected the cause of a st￭ ye is usually a bacterial infection by stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us the internal ones are due to infection of the me￭ i￭ bom￭ ian g￭ land while the external ones are due to an infection of the g￭ land of ze￭ is a chal￭ az￭ ion on the other hand is a blocked oil g￭ land without infection they are typically in the middle of the eye￭ lid and non painful
st￭ ye also known as hor￭ de￭ ol￭ um is an infection of an oil g￭ land in the eye￭ lid this results in a red tender bump at the edge of the eye￭ lid the outside or the inside of the eye￭ lid can be affected the cause of a st￭ ye is usually a bacterial infection by stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us the internal ones are due to infection of the me￭ i￭ bom￭ ian g￭ land while the external ones are due to an infection of the g￭ land of ze￭ is a chal￭ az￭ ion on the other hand is a blocked oil g￭ land without infection they are typically in the middle of the eye￭ lid and non painful often a st￭ ye will go away without any specific treatment in a few days or weeks recommendations to speed improvement include warm com￭ presses occasionally antibiotic eye o￭ int￭ ment may be recommended while these measures are often recommended evidence to support them is poor the frequency at which they occur is unclear they may happen at any age
chal￭ az￭ ion
chal￭ az￭ ion is a cyst in the eye￭ lid due to a blocked oil g￭ land they are typically in the middle of the eye￭ lid red and non painful they tend to come on gradually over a few weeks a chal￭ az￭ ion may occur following a st￭ ye or from hardened oils blocking the g￭ land the blocked g￭ land is usually the me￭ i￭ bom￭ ian g￭ land but can also be the g￭ land of ze￭ is a st￭ ye and cell￭ u￭ li￭ tis may appear similar a st￭ ye however is usually more sudden in onset painful and occurs at the edge of the eye￭ lid cell￭ u￭ li￭ tis is also typically painful
chal￭ az￭ ion is a cyst in the eye￭ lid due to a blocked oil g￭ land they are typically in the middle of the eye￭ lid red and non painful they tend to come on gradually over a few weeks a chal￭ az￭ ion may occur following a st￭ ye or from hardened oils blocking the g￭ land the blocked g￭ land is usually the me￭ i￭ bom￭ ian g￭ land but can also be the g￭ land of ze￭ is a st￭ ye and cell￭ u￭ li￭ tis may appear similar a st￭ ye however is usually more sudden in onset painful and occurs at the edge of the eye￭ lid cell￭ u￭ li￭ tis is also typically painful treatment is typically initially with warm com￭ presses if this is not effective injecting ster￭ oids into the le￭ sion maybe tried if large inc￭ ision and drainage maybe recommended while relatively common the frequency of the condition is unknown the term is from the greek khal￭ az￭ ion meaning small ha￭ il￭ stone
ble￭ ph￭ ari￭ tis
ble￭ ph￭ ari￭ tis bl￭ ɛ￭ f￭ ə￭ r￭ ˈ￭ a￭ ɪ￭ t￭ ᵻ￭ s ble￭ f ə￭ r eye tis is a common eye condition characterized by chronic infl￭ amm￭ ation of the eye￭ lid usually where e￭ yel￭ ashes grow resulting in infl￭ amed irritated it￭ chy and red￭ dened eye￭ li￭ ds a number of diseases and conditions can lead to ble￭ ph￭ ari￭ tis it can be caused by the oil g￭ lands at the base of the e￭ yel￭ ashes becoming clo￭ gged a bacterial infection allergies or other conditions the severity and course can vary onset can be acute resolving without treatment within 2 – 4 weeks this can be greatly reduced with lid hygiene but more generally is a long standing chronic infl￭ amm￭ ation of varying severity
tric￭ hi￭ asis
tric￭ hi￭ asis is a medical term for abnormally positioned e￭ yel￭ ashes that grow back toward the eye touching the cor￭ ne￭ a or con￭ junc￭ tiva this can be caused by infection infl￭ amm￭ ation auto￭ immune conditions con￭ genital defects eye￭ lid agen￭ esis and trauma such as burns or eye￭ lid injury it is the leading cause of infectious blindness in the world repeated cases of tr￭ ach￭ oma infection may cause tric￭ hi￭ asis poster￭ ior mis￭ direction of normal l￭ ashes most frequently affects lower lid
tric￭ hi￭ asis is a medical term for abnormally positioned e￭ yel￭ ashes that grow back toward the eye touching the cor￭ ne￭ a or con￭ junc￭ tiva this can be caused by infection infl￭ amm￭ ation auto￭ immune conditions con￭ genital defects eye￭ lid agen￭ esis and trauma such as burns or eye￭ lid injury it is the leading cause of infectious blindness in the world standard treatment involves removal or destruction of the affected e￭ yel￭ ashes with electro￭ logy specialized laser or surgery in many cases removal of the affected e￭ yel￭ ashes with for￭ cep￭ s resol￭ ves the symptoms although the problem often rec￭ urs in a few weeks when the e￭ yel￭ ashes reg￭ row severe cases may cause scar￭ ring of the cor￭ ne￭ a and lead to vision loss if untreated mild cases may not require treatment repeated cases of tr￭ ach￭ oma infection may cause tric￭ hi￭ asis poster￭ ior mis￭ direction of normal l￭ ashes most frequently affects lower lid
ent￭ ro￭ p￭ ion
ent￭ ro￭ p￭ ion is a medical condition in which the eye￭ lid usually the lower lid fol￭ ds inward it is very uncomfortable as the e￭ yel￭ ashes constantly rub against the cor￭ ne￭ a and irrit￭ ate it ent￭ ro￭ p￭ ion is usually caused by genetic factors this is different from when an extra fold of skin on the lower eye￭ lid causes l￭ ashes to turn in towards the eye epi￭ ble￭ phar￭ on in epi￭ ble￭ phar￭ ons the eye￭ lid margin itself is in the correct position but the extra fold of skin causes the l￭ ashes to be mis￭ directed ent￭ ro￭ p￭ ion can also create secondary pain of the eye leading to self trauma scar￭ ring of the eye￭ lid or nerve damage the upper or lower eye￭ lid can be involved and one or both eyes may be affected when ent￭ ro￭ p￭ ion occurs in both eyes this is known as bilateral ent￭ ro￭ p￭ ion repeated cases of tr￭ ach￭ oma in
ec￭ tro￭ p￭ ion
ec￭ tro￭ p￭ ion is a medical condition in which the lower eye￭ lid turns outw￭ ards it is one of the notable aspects of new￭ bor￭ ns exhi￭ biting con￭ genital har￭ le￭ quin type ich￭ thy￭ osis but ec￭ tro￭ p￭ ion can occur due to any weakening of tissue of the lower eye￭ lid the condition can be repaired sur￭ g￭ ically ec￭ tro￭ p￭ ion is also found in dogs as a genetic disorder in certain breeds
lag￭ oph￭ thal￭ mos
lag￭ oph￭ thal￭ mos is defined as the inability to close the eye￭ li￭ ds completely blin￭ king covers the eye with a thin layer of tear fluid thereby promoting a mo￭ ist environment necessary for the cells of the exter￭ ior part of the eye the tears also flush out foreign bodies and wash them away this is crucial to maintain lubric￭ ation and proper eye health if this process is impaired as in lag￭ oph￭ thal￭ mos the eye can suffer abra￭ sions and infections lag￭ op￭ thal￭ mos leads to cor￭ ne￭ al drying and ul￭ cer￭ ation
der￭ mat￭ och￭ al￭ asis
der￭ mat￭ och￭ al￭ asis is a medical condition defined as an excess of skin in the upper or lower eye￭ lid also known as bag￭ gy eyes it may be either an acquired or a con￭ genital condition it is generally treated with ble￭ phar￭ op￭ la￭ sty
pto￭ sis eye￭ lid
pto￭ sis is a dro￭ oping or falling of the upper eye￭ lid the dro￭ oping may be worse after being awake longer when the individual s muscles are tired this condition is sometimes called lazy eye but that term normally refers to am￭ bl￭ y￭ op￭ ia if severe enough and left untreated the dro￭ oping eye￭ lid can cause other conditions such as am￭ bl￭ y￭ op￭ ia or as￭ ti￭ gm￭ atism this is why it is especially important for this disorder to be treated in children at a young age before it can interfere with vision development the term is from greek pto￭ sis ble￭ phar￭ op￭ to￭ sis or πτ￭ ῶ￭ σ￭ ις to fall
ble￭ phar￭ op￭ him￭ osis
ble￭ phar￭ op￭ him￭ osis is a condition where the patient has bilateral pto￭ sis with reduced lid size vertically and horizon￭ tally the nas￭ al bridge is flat and there is hypo￭ plastic orb￭ ital rim both the vertical and horizontal pal￭ pe￭ br￭ al f￭ issu￭ res eye￭ lid opening are shortened vi￭ gn￭ es 18￭ 89 probably first described this entity a dys￭ pl￭ asia of the eye￭ li￭ ds
mad￭ ar￭ osis
mad￭ ar￭ osis is a condition that results in the loss of e￭ yel￭ ashes sometimes eyebro￭ ws the term mad￭ ar￭ osis is greek for the word mad￭ ao which means to fall off it originally was a disease of only losing e￭ yel￭ ashes but it currently is the loss of both e￭ yel￭ ashes and eyebro￭ ws eyebro￭ ws and e￭ yel￭ ashes are both important in the prevention of bacteria and other foreign objects from entering the eye a majority of patients with mad￭ ar￭ osis have leprosy and it was reported that 76 of patients with varying types of leprosy had mad￭ ar￭ osis
d￭ ac￭ ry￭ o￭ ad￭ eni￭ tis
d￭ ac￭ ry￭ o￭ ad￭ eni￭ tis is infl￭ amm￭ ation of the lac￭ ri￭ mal g￭ lands the tear producing g￭ lands
d￭ ac￭ ry￭ oc￭ y￭ sti￭ tis
d￭ ac￭ ry￭ oc￭ y￭ sti￭ tis is an infection of the lac￭ ri￭ mal s￭ ac secondary to obstruction of the nas￭ ol￭ ac￭ ri￭ mal duc￭ t at the junction of lac￭ ri￭ mal s￭ ac the term derives from the greek d￭ á￭ kry￭ on tear cy￭ sta s￭ ac and i￭ tis infl￭ amm￭ ation it causes pain red￭ ness and sw￭ elling over the inner aspect of the lower eye￭ lid and ep￭ ip￭ hor￭ a when nas￭ ol￭ ac￭ ri￭ mal duc￭ t obstruction is secondary to a con￭ genital barrier it is referred to as d￭ acro￭ cy￭ sto￭ ce￭ le it is most commonly caused by stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us and st￭ rep￭ to￭ co￭ cc￭ us pneu￭ mon￭ i￭ ae the most common complic￭ ation is cor￭ ne￭ al ul￭ cer￭ ation frequently in association with s pneu￭ mon￭ i￭ ae the main￭ stays of treatment are oral antibiotics warm com￭ presses and relief of nas￭ ol￭ ac￭ ri￭ mal duc￭ t obstruction by d￭ ac￭ ry￭ oc￭ y￭ stor￭ hin￭ o￭ stom￭ y
ex￭ oph￭ thal￭ mos
ex￭ oph￭ thal￭ mos also called ex￭ oph￭ thal￭ mus ex￭ oph￭ thal￭ mia prop￭ to￭ sis or exor￭ bi￭ tism is a bul￭ ging of the eye an￭ ter￭ ior￭ ly out of the orbit ex￭ oph￭ thal￭ mos can be either bilateral as is often seen in graves disease or unilateral as is often seen in an orb￭ ital tumor complete or partial dis￭ location from the orbit is also possible from trauma or sw￭ elling of surrounding tissue resulting from trauma in the case of graves disease the displacement of the eye is due to abnormal connec￭ tive tissue de￭ position in the orbit and extra￭ oc￭ ular muscles which can be vis￭ u￭ alized by ct or m￭ ri
en￭ oph￭ thal￭ mos
graves oph￭ thal￭ mop￭ athy
graves oph￭ thal￭ mop￭ athy also known as thyro￭ id eye disease ted dys￭ thyro￭ id thyro￭ id associated or￭ bit￭ opathy tao graves or￭ bit￭ opathy is an auto￭ immune infl￭ am￭ matory disorder affecting the orbit around the eye characterized by upper eye￭ lid re￭ traction lid lag sw￭ elling red￭ ness er￭ y￭ them￭ a con￭ junc￭ ti￭ vi￭ tis and bul￭ ging eyes ex￭ op￭ thal￭ mos the auto￭ antibodies target the fi￭ bro￭ bl￭ asts in the eye muscles and those fi￭ bro￭ bl￭ asts can differentiate into fat cells adi￭ po￭ cy￭ tes fat cells and muscles expand and become infl￭ amed ve￭ ins become compressed and are unable to drain fluid causing e￭ dem￭ a
graves oph￭ thal￭ mop￭ athy also known as thyro￭ id eye disease ted dys￭ thyro￭ id thyro￭ id associated or￭ bit￭ opathy tao graves or￭ bit￭ opathy is an auto￭ immune infl￭ am￭ matory disorder affecting the orbit around the eye characterized by upper eye￭ lid re￭ traction lid lag sw￭ elling red￭ ness er￭ y￭ them￭ a con￭ junc￭ ti￭ vi￭ tis and bul￭ ging eyes ex￭ op￭ thal￭ mos it is part of a systemic process with variable expression in the eyes thyro￭ id and skin caused by auto￭ antibodies that bind to tissues in those organs and in general occurs with hyper￭ thyro￭ i￭ dis￭ m the most common form of hyper￭ thyro￭ i￭ dis￭ m is graves disease about 10 of cases do not have graves disease but do have auto￭ antibodies the auto￭ antibodies target the fi￭ bro￭ bl￭ asts in the eye muscles and those fi￭ bro￭ bl￭ asts can differentiate into fat cells adi￭ po￭ cy￭ tes fat cells and muscles expand and become infl￭ amed ve￭ ins become compressed and are unable to drain fluid causing e￭ dem￭ a annual incidence is 16 100 000 in women 3 100 000 in men about 3 5 have severe disease with intense pain and sight threatening cor￭ ne￭ al ul￭ cer￭ ation or compression of the op￭ tic nerve cigarette smoking which is associated with many auto￭ immune diseases raises the incidence 7 7 fold mild disease will often resolve and merely requires measures to reduce discomfort and dr￭ y￭ ness such as artificial tears and smoking cessation if possible severe cases are a medical emergency and are treated with glu￭ co￭ cor￭ ti￭ co￭ ids ster￭ oids and sometimes cic￭ los￭ por￭ in many anti infl￭ am￭ matory biological mediators such as inf￭ li￭ xim￭ ab et￭ an￭ er￭ cep￭ t and an￭ ak￭ in￭ ra are being tried but there are no random￭ ized controlled trials demonstrating effectiveness
con￭ junc￭ ti￭ vi￭ tis
con￭ junc￭ ti￭ vi￭ tis also known as pink eye is infl￭ amm￭ ation of the outermost layer of the white part of the eye and the inner surface of the eye￭ lid it makes the eye appear pink or red￭ dish there may also be pain burning scrat￭ chin￭ ess or it￭ chin￭ ess the affected eye may have increased tears or be stuck shut in the morning sw￭ elling of the white part of the eye may also occur it￭ ching of the eye is more common in cases due to allergies con￭ junc￭ ti￭ vi￭ tis can affect one or both eyes
con￭ junc￭ ti￭ vi￭ tis also known as pink eye is infl￭ amm￭ ation of the outermost layer of the white part of the eye and the inner surface of the eye￭ lid it makes the eye appear pink or red￭ dish there may also be pain burning scrat￭ chin￭ ess or it￭ chin￭ ess the affected eye may have increased tears or be stuck shut in the morning sw￭ elling of the white part of the eye may also occur it￭ ching of the eye is more common in cases due to allergies con￭ junc￭ ti￭ vi￭ tis can affect one or both eyes the most common infectious causes are viral followed by bacterial the viral infection may occur along with other symptoms of a common cold viral and bacterial cases are easily spread between people allergies to poll￭ en or animal hair is also a common cause diagnosis is often based on signs and symptoms occasionally a sample of the discharge is sent for culture prevention is partly by hand￭ washing treatment depends on the underlying cause in the majority of viral cases there is no specific treatment most cases due to a bacterial infection will also resolve without treatment however antibiotics can shorten the illness those who wear contact lens and those with either gon￭ or￭ rhe￭ a or ch￭ lam￭ y￭ dia as the cause should be treated allergic cases can be treated with anti￭ hist￭ amine or m￭ ast cell inhi￭ bit￭ or drops about 3 to 6 million people get con￭ junc￭ ti￭ vi￭ tis each year in the united states in adults viral causes are more common while in children bacterial causes are more common typically people get better in one or two weeks if there is visual loss significant pain sensitivity to light signs of her￭ pes or a person is not improving after a week further diagnosis and treatment may be required con￭ junc￭ ti￭ vi￭ tis in a new￭ born known as ne￭ on￭ atal con￭ junc￭ ti￭ vi￭ tis may also require specific treatment
p￭ ingu￭ ec￭ ula
p￭ ter￭ y￭ gi￭ um con￭ junc￭ tiva
sub￭ con￭ junc￭ ti￭ val hemorrha￭ ge
sub￭ con￭ junc￭ ti￭ val hemorrha￭ ge also known as sub￭ con￭ junc￭ ti￭ val haemorrha￭ ge and hypo￭ sp￭ ha￭ g￭ ma is bleeding underneath the con￭ junc￭ tiva the con￭ junc￭ tiva contains many small fragile blood vessels that are easily rup￭ tured or broken when this happens blood leaks into the space between the con￭ junc￭ tiva and s￭ cl￭ era whereas a bru￭ ise typically appears black or blue underneath the skin a sub￭ con￭ junc￭ ti￭ val hemorrha￭ ge initially appears bright red underneath the transparent con￭ junc￭ tiva later the hemorrha￭ ge may spread and become green or yellow like a bru￭ ise usually this disappears within 2 weeks
sub￭ con￭ junc￭ ti￭ val hemorrha￭ ge also known as sub￭ con￭ junc￭ ti￭ val haemorrha￭ ge and hypo￭ sp￭ ha￭ g￭ ma is bleeding underneath the con￭ junc￭ tiva the con￭ junc￭ tiva contains many small fragile blood vessels that are easily rup￭ tured or broken when this happens blood leaks into the space between the con￭ junc￭ tiva and s￭ cl￭ era such a hemorrha￭ ge may be caused by a sudden or severe snee￭ ze or cough or due to hyper￭ tension or as a side effect of blood thin￭ ners it may also be caused by heavy lifting v￭ om￭ iting or even rub￭ bing one s eyes too roughly in other cases it may result from being cho￭ ked or from str￭ aining due to con￭ sti￭ p￭ ation also it can result as a minor post operative complic￭ ation in eye sur￭ ger￭ ies such as la￭ si￭ k whereas a bru￭ ise typically appears black or blue underneath the skin a sub￭ con￭ junc￭ ti￭ val hemorrha￭ ge initially appears bright red underneath the transparent con￭ junc￭ tiva later the hemorrha￭ ge may spread and become green or yellow like a bru￭ ise usually this disappears within 2 weeks although its appearance may be alarming in general a sub￭ con￭ junc￭ ti￭ val hemorrha￭ ge is a pain￭ less and harmless condition however it may be associated with high blood pressure trauma to the eye or a base of skull frac￭ ture if there is no poster￭ ior border of the hemorrha￭ ge visible
s￭ cl￭ eri￭ tis
ker￭ ati￭ tis
ker￭ ati￭ tis is a condition in which the eye s cor￭ ne￭ a the front part of the eye becomes infl￭ amed the condition is often marked by moderate to intense pain and usually involves any of the following symptoms pain impaired eye￭ sight pho￭ top￭ ho￭ bia red eye and a gr￭ it￭ ty sensation
cor￭ ne￭ al ul￭ cer
cor￭ ne￭ al ul￭ cer or ul￭ cer￭ ative ker￭ ati￭ tis is an infl￭ am￭ matory or more seriously infec￭ tive condition of the cor￭ ne￭ a involving disruption of its epi￭ the￭ li￭ al layer with involvement of the cor￭ ne￭ al st￭ roma it is a common condition in humans particularly in the tro￭ p￭ ics and the agr￭ arian societies in developing countries children afflicted by vitamin a deficiency are at high risk for cor￭ ne￭ al ul￭ cer and may become blind in both eyes which may persist lifelong in oph￭ thal￭ mo￭ logy a cor￭ ne￭ al ul￭ cer usually refers to having an infectious eti￭ ology while the term cor￭ ne￭ al abra￭ sion refers more to physical abra￭ sions
thy￭ ges￭ on s superficial pun￭ ct￭ ate ker￭ at￭ opathy
photo￭ ker￭ ati￭ tis
photo￭ ker￭ ati￭ tis or ultra￭ violet ker￭ ati￭ tis is a painful eye condition caused by exposure of insufficiently protected eyes to the ultra￭ violet u￭ v rays from either natural e g intense sunlight or artificial e g the electric arc during welding sources photo￭ ker￭ ati￭ tis is akin to a sun￭ burn of the cor￭ ne￭ a and con￭ junc￭ tiva and is not usually noticed until several hours after exposure symptoms include increased tears and a feeling of pain lik￭ ened to having sand in the eyes
photo￭ ker￭ ati￭ tis or ultra￭ violet ker￭ ati￭ tis is a painful eye condition caused by exposure of insufficiently protected eyes to the ultra￭ violet u￭ v rays from either natural e g intense sunlight or artificial e g the electric arc during welding sources photo￭ ker￭ ati￭ tis is akin to a sun￭ burn of the cor￭ ne￭ a and con￭ junc￭ tiva and is not usually noticed until several hours after exposure symptoms include increased tears and a feeling of pain lik￭ ened to having sand in the eyes the injury may be prevented by wearing eye protection that blocks most of the ultra￭ violet radiation such as welding go￭ ggles with the proper filters a wel￭ der s helmet sun￭ glasses rated for sufficient u￭ v protection or appropriate snow go￭ ggles the condition is usually managed by removal from the source of ultra￭ violet radiation covering the cor￭ ne￭ as and administration of pain relief photo￭ ker￭ ati￭ tis is known by a number of different terms including snow blindness arc eye wel￭ der s flash ba￭ ke eyes cor￭ ne￭ al flash burns flash burns nip￭ ha￭ ble￭ p￭ sia or ker￭ ato￭ con￭ junc￭ ti￭ vi￭ tis photo￭ electr￭ ica
kay￭ ser – fle￭ is￭ cher ring
arc￭ us sen￭ il￭ is
fu￭ ch￭ s dy￭ stro￭ phy
fu￭ ch￭ s dy￭ stro￭ phy pronounced fo￭ oks dis tr￭ ə fe also known as fu￭ ch￭ s cor￭ ne￭ al endo￭ the￭ li￭ al dy￭ stro￭ phy or f￭ ced is a slowly progressing cor￭ ne￭ al dy￭ stro￭ phy that usually affects both eyes and is slightly more common in women than in men although doctors can often see early signs of fu￭ ch￭ s dy￭ stro￭ phy in people in their 30 s and 40 s the disease rarely affects vision until people reach their 50 s and 60 s
ker￭ ato￭ con￭ us
ker￭ ato￭ con￭ us k￭ c k￭ cn kt￭ cn is a degenerative disorder of the eye in which structural changes within the cor￭ ne￭ a cause it to thin and change to a more con￭ ical shape than the more normal gradual curve ker￭ ato￭ con￭ us can cause substantial distortion of vision with multiple images stre￭ aking and sensitivity to light all often reported by the person it is typically diagnosed in the person s adoles￭ cent years if both eyes are significantly affected the deterioration in vision can affect the person s ability to drive a car or read normal print
ker￭ ato￭ con￭ us k￭ c k￭ cn kt￭ cn is a degenerative disorder of the eye in which structural changes within the cor￭ ne￭ a cause it to thin and change to a more con￭ ical shape than the more normal gradual curve ker￭ ato￭ con￭ us can cause substantial distortion of vision with multiple images stre￭ aking and sensitivity to light all often reported by the person it is typically diagnosed in the person s adoles￭ cent years if both eyes are significantly affected the deterioration in vision can affect the person s ability to drive a car or read normal print in most cases corrective l￭ enses fitted by a specialist are effective enough to allow the person to continue to drive legally and likewise function normally further progression of the disease may require surgery for which several options are available including intr￭ astro￭ mal cor￭ ne￭ al ring segments cor￭ ne￭ al coll￭ agen cross linking mini asymmetric rad￭ ial ker￭ ato￭ tomy cor￭ ne￭ al intr￭ astro￭ mal implan￭ tation system cis￭ is topo￭ graphy guided photo￭ ref￭ r￭ active ker￭ at￭ ec￭ tomy pr￭ k topo￭ graphy guided conduc￭ tive ker￭ at￭ op￭ la￭ sty p￭ ha￭ k￭ ic intra￭ oc￭ ular l￭ enses and in 25 of cases cor￭ ne￭ al transplantation estimates of the rates for ker￭ ato￭ con￭ us range from 1 in 500 to 1 in 2000 people but difficulties with differential diagnosis cause uncertainty it seems to occur in populations throughout the world although it is observed more frequently in certain ethnic groups such as south asians environmental and genetic factors are considered possible causes but the exact cause is uncertain it has been associated with detrimental enzyme activity within the cor￭ ne￭ a the word is from greek k￭ ér￭ as horn cor￭ ne￭ a and latin c￭ ō￭ nus cone
dry eye syndrome
dry eye syndrome des also known as ker￭ ato￭ con￭ junc￭ ti￭ vi￭ tis sic￭ ca k￭ cs is the condition of having dry eyes other associated symptoms include irritation red￭ ness discharge and easily fati￭ gu￭ ed eyes blurred vision may also occur the symptoms can range from mild and occasional to severe and continuous scar￭ ring of the cor￭ ne￭ a may occur in some cases without treatment
dry eye syndrome des also known as ker￭ ato￭ con￭ junc￭ ti￭ vi￭ tis sic￭ ca k￭ cs is the condition of having dry eyes other associated symptoms include irritation red￭ ness discharge and easily fati￭ gu￭ ed eyes blurred vision may also occur the symptoms can range from mild and occasional to severe and continuous scar￭ ring of the cor￭ ne￭ a may occur in some cases without treatment dry eye occurs when either the eye does not produce enough tears or when the tears evapor￭ ate too quickly this can result from me￭ i￭ bom￭ ian g￭ land dysfunction allergies pregnancy s￭ jo￭ gre￭ n s syndrome vitamin a deficiency la￭ si￭ k surgery and certain medications such as anti￭ hist￭ am￭ ines some blood pressure medication hormone replacement therapy and anti￭ depres￭ s￭ ants chronic con￭ junc￭ ti￭ vi￭ tis such as from tobacco smoke exposure or infection may also lead to the condition diagnosis is mostly based on the symptoms though a number of other tests may be used treatment depends on the underlying cause artificial tears are the usual first line treatment wrap around glasses that fit close to the face may decrease tear evapor￭ ation stopping or changing certain medications may help the medication cic￭ los￭ por￭ in or ster￭ o￭ id eye drops may be used in some cases another opinion is lac￭ ri￭ mal plu￭ gs that prevent tears from draining from the surface of the eye dry eyes occasionally makes wearing contact l￭ enses impossible dry eye syndrome is a common eye disease it affects 5 34 of people to some degree depending on the population looked at among older people it affects up to 70 in china it affects about 17 of people the phrase ker￭ ato￭ con￭ junc￭ ti￭ vi￭ tis sic￭ ca means dr￭ y￭ ness of the cor￭ ne￭ a and con￭ junc￭ tiva in latin
u￭ ve￭ i￭ tis
u￭ ve￭ i￭ tis is the infl￭ amm￭ ation of the u￭ ve￭ a the pi￭ gm￭ ented layer that lies between the inner re￭ tina and the outer fi￭ bro￭ us layer composed of the s￭ cl￭ era and cor￭ ne￭ a the u￭ ve￭ a consists of the middle layer of pi￭ gm￭ ented vascular structures of the eye and includes the iris ci￭ li￭ ary body and chor￭ o￭ id u￭ ve￭ i￭ tis is an oph￭ thal￭ mic emergency and requires a thorough examination by an op￭ tom￭ etr￭ ist or oph￭ thal￭ mo￭ logist and urgent treatment to control the infl￭ amm￭ ation
hy￭ ph￭ ema
hy￭ ph￭ ema or hyp￭ ha￭ ema see spelling differences is blood in the front an￭ terior chamber of the eye it may appear as a red￭ dish t￭ inge or it may appear as a small pool of blood at the bottom of the iris or in the cor￭ ne￭ a
sy￭ nec￭ hia eye
a sy￭ nec￭ hia is an eye condition where the iris adheres to either the cor￭ ne￭ a i e an￭ terior sy￭ nec￭ hia or lens i e poster￭ ior sy￭ nec￭ hia sy￭ nec￭ hi￭ ae can be caused by oc￭ ular trauma i￭ ri￭ tis or i￭ ri￭ do￭ cy￭ cli￭ tis and may lead to certain types of gl￭ au￭ coma it is sometimes visible on careful examination but usually more easily through an oph￭ thal￭ mo￭ scope or sli￭ t lamp
cat￭ ar￭ act
a cat￭ ar￭ act is a clou￭ ding of the lens in the eye leading to a decrease in vision it can affect one or both eyes often it develops slowly symptoms may include faded colors blur￭ ry vision hal￭ os around light trouble with bright lights and trouble seeing at night this may result in trouble driving reading or recognizing faces poor vision may also result in an increased risk of falling and depression cat￭ ar￭ acts are the cause of half of blindness and 33 of visual impairment worldwide
ap￭ ha￭ k￭ ia
ap￭ ha￭ k￭ ia is the absence of the lens of the eye due to surgical removal a per￭ for￭ ating wound or ul￭ cer or con￭ genital anomaly it causes a loss of accommodation far sightedness hyper￭ op￭ ia and a deep an￭ terior chamber complications include det￭ achment of the vit￭ re￭ ous or re￭ tina and gl￭ au￭ coma people with ap￭ ha￭ k￭ ia have relatively small pupils and their pupils di￭ late to a lesser degree
ap￭ ha￭ k￭ ia is the absence of the lens of the eye due to surgical removal a per￭ for￭ ating wound or ul￭ cer or con￭ genital anomaly it causes a loss of accommodation far sightedness hyper￭ op￭ ia and a deep an￭ terior chamber complications include det￭ achment of the vit￭ re￭ ous or re￭ tina and gl￭ au￭ coma babies are rarely born with ap￭ ha￭ k￭ ia occurrence most often results from surgery to remove con￭ genital cat￭ ar￭ acts clou￭ ding of the eyes lens which can block light from entering the eye and focusing clearly con￭ genital cat￭ ar￭ acts usually develop as a result of infection of the fe￭ tus or genetic reasons it is often difficult to identify the exact cause of these cat￭ ar￭ acts especially if only one eye is affected people with ap￭ ha￭ k￭ ia have relatively small pupils and their pupils di￭ late to a lesser degree
ec￭ top￭ ia l￭ enti￭ s
ret￭ initi￭ s
re￭ tin￭ al det￭ achment
re￭ tin￭ al det￭ achment is a disorder of the eye in which the re￭ tina separates from the layer underneath symptoms include an increase in the number of flo￭ at￭ ers fl￭ ashes of light and worsening of the outer part of the visual field this may be described as a curtain over part of the field of vision in about 7 of cases both eyes are affected without treatment permanent loss of vision may occur
re￭ tin￭ o￭ sch￭ is￭ is
central re￭ tin￭ al vein oc￭ clu￭ sion
the central re￭ tin￭ al vein is the ven￭ ous equivalent of the central re￭ tin￭ al artery and like that blood vessel it can suffer from oc￭ clu￭ sion central re￭ tin￭ al vein oc￭ clu￭ sion also cr￭ vo similar to that seen in oc￭ ular is￭ chem￭ ic syndrome since the central re￭ tin￭ al artery and vein are the sole source of blood supply and drainage for the re￭ tina such oc￭ clu￭ sion can lead to severe damage to the re￭ tina and blindness due to is￭ chem￭ ia restriction in blood supply and e￭ dem￭ a sw￭ elling it can also cause gl￭ au￭ coma
hyper￭ ten￭ sive re￭ tin￭ opathy
hyper￭ ten￭ sive re￭ tin￭ opathy is damage to the re￭ tina and re￭ tin￭ al circulation due to high blood pressure i e hyper￭ tension
coats disease
re￭ tin￭ opathy of pre￭ maturity
re￭ tin￭ opathy of pre￭ maturity ro￭ p or terry syndrome previously known as retro￭ l￭ ental fi￭ bro￭ pl￭ asia r￭ lf is a disease of the eye affecting prematurely born babies generally having received intensive ne￭ on￭ atal care in which oxygen therapy is used on them due to the premature development of their lungs it is thought to be caused by dis￭ organized growth of re￭ tin￭ al blood vessels which may result in scar￭ ring and re￭ tin￭ al det￭ achment ro￭ p can be mild and may resolve spontaneously but it may lead to blindness in serious cases as such all pre￭ term babies are at risk for ro￭ p and very low birth weight is an additional risk factor both oxygen toxicity and relative hypo￭ x￭ ia can contribute to the development of ro￭ p
mac￭ ular de￭ generation
mac￭ ular de￭ generation also known as age related mac￭ ular de￭ generation am￭ d or arm￭ d is a medical condition which may result in blurred or no vision in the center of the visual field early on there are often no symptoms over time however some people experience a gradual worsening of vision that may affect one or both eyes while it does not result in complete blindness loss of central vision can make it hard to recognize faces drive read or perform other activities of daily life visual halluc￭ inations may also occur but these do not represent a mental illness
dr￭ usen
le￭ ber s con￭ genital am￭ au￭ ro￭ sis
le￭ ber s con￭ genital am￭ au￭ ro￭ sis l￭ ca is a rare inherited eye disease that appears at birth or in the first few months of life and affects around 1 in 80 000 of the population one form of l￭ ca became well known in the scientific community following its successful treatment with gene therapy in 2008 l￭ ca was first described by theod￭ or le￭ ber in the 19 th century it should not be confused with le￭ ber s hereditary op￭ tic neuro￭ pa￭ thy which is a different disease also described by theod￭ or le￭ ber
usher syndrome
usher syndrome is an extremely rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment and is a leading cause of deaf￭ blindness usher syndrome is incur￭ able at present other names for usher syndrome include hall￭ gre￭ n syndrome usher hall￭ gre￭ n syndrome ret￭ initi￭ s pi￭ gm￭ ent￭ osa dys￭ ac￭ us￭ is syndrome and dy￭ stro￭ phia re￭ tin￭ ae dys￭ ac￭ us￭ is syndrome
ret￭ initi￭ s pi￭ gm￭ ent￭ osa
ret￭ initi￭ s pi￭ gm￭ ent￭ osa r￭ p is an inherited degenerative eye disease that causes severe vision impairment due to the progressive de￭ generation of the rod photo￭ recep￭ tor cells in the re￭ tina this form of re￭ tin￭ al dy￭ stro￭ phy manifests initial symptoms independent of age thus r￭ p diagnosis occurs anywhere from early infancy to late adul￭ thood patients in the early stages of r￭ p first notice compromised peripheral and dim light vision due to the decline of the rod photo￭ recep￭ tors the progressive rod de￭ generation is later followed by ab￭ norm￭ alities in the adjacent re￭ tin￭ al pig￭ ment epi￭ the￭ lium r￭ pe and the deterioration of cone photo￭ recep￭ tor cells as peripheral vision becomes increasingly compromised patients experience progressive tunnel vision and eventual blindness affected individuals may add￭ i
ret￭ initi￭ s pi￭ gm￭ ent￭ osa r￭ p is an inherited degenerative eye disease that causes severe vision impairment due to the progressive de￭ generation of the rod photo￭ recep￭ tor cells in the re￭ tina this form of re￭ tin￭ al dy￭ stro￭ phy manifests initial symptoms independent of age thus r￭ p diagnosis occurs anywhere from early infancy to late adul￭ thood patients in the early stages of r￭ p first notice compromised peripheral and dim light vision due to the decline of the rod photo￭ recep￭ tors the progressive rod de￭ generation is later followed by ab￭ norm￭ alities in the adjacent re￭ tin￭ al pig￭ ment epi￭ the￭ lium r￭ pe and the deterioration of cone photo￭ recep￭ tor cells as peripheral vision becomes increasingly compromised patients experience progressive tunnel vision and eventual blindness affected individuals may additionally experience defective light dark adaptations ny￭ c￭ tal￭ op￭ ia night blindness and the accumulation of bone sp￭ ic￭ ules in the fun￭ dus
star￭ gar￭ dt disease
star￭ gar￭ dt disease or fun￭ dus flav￭ im￭ ac￭ ul￭ atus is an inherited form of juvenile mac￭ ular de￭ generation that causes progressive vision loss usually to the point of legal blindness several genes are associated with the disorder symptoms mainly vision loss typically develop before age 20 and also include w￭ av￭ y vision blind spots blur￭ r￭ iness impaired color vision and difficulty adapting to dim lighting
star￭ gar￭ dt disease or fun￭ dus flav￭ im￭ ac￭ ul￭ atus is an inherited form of juvenile mac￭ ular de￭ generation that causes progressive vision loss usually to the point of legal blindness several genes are associated with the disorder symptoms mainly vision loss typically develop before age 20 and also include w￭ av￭ y vision blind spots blur￭ r￭ iness impaired color vision and difficulty adapting to dim lighting star￭ gar￭ dt s disease is often used to refer to any juvenile mac￭ ular dy￭ stro￭ phy however it properly refers to atro￭ ph￭ ic mac￭ ular dy￭ stro￭ phy with yellow poorly defined fl￭ ec￭ ks surrounding the mac￭ ula in the re￭ tin￭ al pig￭ ment epi￭ the￭ lium
cone dy￭ stro￭ phy
a cone dy￭ stro￭ phy is an inherited oc￭ ular disorder characterized by the loss of cone cells the photo￭ recep￭ tors responsible for both central and color vision the most common symptoms of cone dy￭ stro￭ phy are vision loss age of onset ranging from the late teens to the six￭ ties sensitivity to bright lights and poor color vision therefore patients see better at dus￭ k visual acu￭ ity usually deterior￭ ates gradually but it can deteriorate rapidly to 20 200 later in more severe cases it drops to counting fingers vision color vision testing using color test plates hr￭ r series reveals many errors on both red green and blue yellow plates
central ser￭ ous re￭ tin￭ opathy
central ser￭ ous re￭ tin￭ opathy csr also known as central ser￭ ous ch￭ ori￭ ore￭ tin￭ opathy c￭ sc or c￭ scr is an eye disease which causes visual impairment often temporary usually in one eye when the disorder is active it is characterized by leakage of fluid under the re￭ tina that has a propensity to accumulate under the central mac￭ ula this results in blurred or distorted vision met￭ amor￭ p￭ hop￭ sia a blurred or gray spot in the central visual field is common when the re￭ tina is detached reduced visual acu￭ ity may persist after the fluid has disappeared
mac￭ ular e￭ dem￭ a
mac￭ ular e￭ dem￭ a occurs when fluid and protein deposits collect on or under the mac￭ ula of the eye a yellow central area of the re￭ tina and causes it to thick￭ en and swell e￭ dem￭ a the sw￭ elling may distort a person s central vision because the mac￭ ula holds tightly packed con￭ es that provide sharp clear central vision to enable a person to see detail form and color that is directly in the centre of the field of view
diabe￭ tic re￭ tin￭ opathy
diabe￭ tic re￭ tin￭ opathy ˌ￭ r￭ ɛ￭ tn￭ ˈ￭ ɑ￭ p￭ ə￭ θ￭ i also known as diabe￭ tic eye disease is when damage occurs to the re￭ tina due to diabetes it can eventually lead to blindness it is an oc￭ ular manifestation of diabetes a systemic disease which affects up to 80 percent of all patients who have had diabetes for 20 years or more despite these intimidating statistics research indicates that at least 90 of these new cases could be reduced if there were proper and vigilant treatment and monitoring of the eyes the longer a person has diabetes the higher his or her chances of developing diabe￭ tic re￭ tin￭ opathy each year in the united states diabe￭ tic re￭ tin￭ opathy accounts for 12 of all new cases of blindness it is also the leading cause of blindness for people aged 20 to 64 years
gl￭ au￭ coma
gl￭ au￭ coma is a group of eye diseases which result in damage to the op￭ tic nerve and vision loss the most common type is open angle gl￭ au￭ coma with less common types including closed angle gl￭ au￭ coma and normal tension gl￭ au￭ coma open angle gl￭ au￭ coma develops slowly over time and there is no pain side vision may begin to decrease followed by central vision resulting in blindness if not treated closed angle gl￭ au￭ coma can present gradually or suddenly the sudden presentation may involve severe eye pain blurred vision mid dil￭ ated pupil red￭ ness of the eye and naus￭ ea vision loss from gl￭ au￭ coma once it has occurred is permanent
gl￭ au￭ coma is a group of eye diseases which result in damage to the op￭ tic nerve and vision loss the most common type is open angle gl￭ au￭ coma with less common types including closed angle gl￭ au￭ coma and normal tension gl￭ au￭ coma open angle gl￭ au￭ coma develops slowly over time and there is no pain side vision may begin to decrease followed by central vision resulting in blindness if not treated closed angle gl￭ au￭ coma can present gradually or suddenly the sudden presentation may involve severe eye pain blurred vision mid dil￭ ated pupil red￭ ness of the eye and naus￭ ea vision loss from gl￭ au￭ coma once it has occurred is permanent risk factors for gl￭ au￭ coma include increased pressure in the eye a family history of the condition migr￭ ain￭ es high blood pressure and obesity for eye pressures a value of greater than 21 m￭ mh￭ g or 2 8 k￭ pa is often used with higher pressures leading to a greater risk however some may have high eye pressure for years and never develop damage conversely op￭ tic nerve damage may occur with normal pressure known as normal tension gl￭ au￭ coma the mechanism of open angle gl￭ au￭ coma is believed to be slow exit of aqu￭ eous humor through the tr￭ ab￭ ec￭ ular mes￭ h￭ work while in closed angle gl￭ au￭ coma the iris blocks the tr￭ ab￭ ec￭ ular mes￭ h￭ work diagnosis is by a dil￭ ated eye examination often the op￭ tic nerve shows an abnormal amount of cu￭ pping if treated early it is possible to slow or stop the progression of disease with medication laser treatment or surgery the goal of these treatments is to decrease eye pressure a number of different classes of gl￭ au￭ coma medication are available laser treatments may be effective in both open angle and closed angle gl￭ au￭ coma a number of types of gl￭ au￭ coma sur￭ ger￭ ies may be used in people who do not respond sufficiently to other measures treatment of closed angle gl￭ au￭ coma is a medical emergency about eleven to sixty seven million people have gl￭ au￭ coma globally the disease affects about two million people in the united states it occurs more commonly among older people closed angle gl￭ au￭ coma is more common in women gl￭ au￭ coma has been called the silent thief of sight because the loss of vision usually occurs slowly over a long period of time worldwide gl￭ au￭ coma is the second leading cause of blindness after cat￭ ar￭ acts the word gl￭ au￭ coma is from ancient greek gl￭ au￭ kos which means blue green or gray in english the word was used as early as 15￭ 87 but did not become commonly used until after 18￭ 50 when the development of the oph￭ thal￭ mo￭ scope allowed people to see the op￭ tic nerve damage
vit￭ re￭ ous hemorrha￭ ge
vit￭ re￭ ous hemorrha￭ ge is the extr￭ av￭ as￭ ation or leakage of blood into the areas in and around the vit￭ re￭ ous humor of the eye the vit￭ re￭ ous humor is the clear gel that fills the space between the lens and the re￭ tina of the eye a variety of conditions can result in blood le￭ aking into the vit￭ re￭ ous humor which can cause impaired vision flo￭ at￭ ers and pho￭ top￭ sia
asteroid hy￭ alo￭ sis
asteroid hy￭ alo￭ sis is a degenerative condition of the eye involving small white op￭ ac￭ ities in the vit￭ re￭ ous humor it is known to occur in humans dogs cats and chin￭ ch￭ illas clin￭ ically these op￭ ac￭ ities are quite ref￭ r￭ acti￭ le giving the appearance of stars or astero￭ ids shining in the night sky — except that oc￭ ular astero￭ ids are often quite mobile oc￭ ular astero￭ ids must be distinguished from the more common typical vit￭ re￭ ous flo￭ at￭ ers which are usually fi￭ bri￭ ll￭ ar or cellular condens￭ ates the cause of asteroid hy￭ alo￭ sis is unknown but it has been associated with diabetes mell￭ it￭ us hyper￭ tension hyper￭ cho￭ le￭ ster￭ ol￭ emia and in certain animals tumors of the ci￭ li￭ ary body in dogs asteroid hy￭ alo￭ sis is considered to be an age related change the asteroid bodies are made up of hydrox￭ yl￭ ap￭ ati￭ te which in
asteroid hy￭ alo￭ sis is a degenerative condition of the eye involving small white op￭ ac￭ ities in the vit￭ re￭ ous humor it is known to occur in humans dogs cats and chin￭ ch￭ illas clin￭ ically these op￭ ac￭ ities are quite ref￭ r￭ acti￭ le giving the appearance of stars or astero￭ ids shining in the night sky — except that oc￭ ular astero￭ ids are often quite mobile oc￭ ular astero￭ ids must be distinguished from the more common typical vit￭ re￭ ous flo￭ at￭ ers which are usually fi￭ bri￭ ll￭ ar or cellular condens￭ ates the cause of asteroid hy￭ alo￭ sis is unknown but it has been associated with diabetes mell￭ it￭ us hyper￭ tension hyper￭ cho￭ le￭ ster￭ ol￭ emia and in certain animals tumors of the ci￭ li￭ ary body in dogs asteroid hy￭ alo￭ sis is considered to be an age related change the asteroid bodies are made up of hydrox￭ yl￭ ap￭ ati￭ te which in turn consists of calcium and phosp￭ hates or phosp￭ holi￭ pi￭ ds while asteroid hy￭ alo￭ sis does not usually severely affect vision the floating op￭ ac￭ ities can be quite annoying and may interfere significantly with vis￭ u￭ alization and testing of the re￭ tina while treatment of asteroid hy￭ alo￭ sis is usually unnecessary vit￭ rec￭ tomy may occasionally be indicated for both diagnostic and therapeutic purposes
flo￭ ater
flo￭ at￭ ers are deposits of various size shape consistency ref￭ r￭ active index and mo￭ ti￭ lity within the eye s vit￭ re￭ ous humour which is normally transparent at a young age the vit￭ re￭ ous is￭ transparent but as one ages imperfections gradually develop the common type of flo￭ ater which is present in most persons eyes is due to degenerative changes of the vit￭ re￭ ous humour the perception of flo￭ at￭ ers is known as my￭ o￭ des￭ op￭ sia or less commonly as my￭ od￭ ae￭ op￭ sia my￭ io￭ de￭ op￭ sia or my￭ io￭ des￭ op￭ sia they are also called mus￭ ca￭ e vol￭ it￭ antes latin flying flies or mou￭ ches vol￭ antes from the french flo￭ at￭ ers are visible because of the shadows they cast on the re￭ tina or ref￭ r￭ action of the light that passes through them and can appear alone or together with several others in one s visual field they may ap￭ pe
flo￭ at￭ ers are deposits of various size shape consistency ref￭ r￭ active index and mo￭ ti￭ lity within the eye s vit￭ re￭ ous humour which is normally transparent at a young age the vit￭ re￭ ous is￭ transparent but as one ages imperfections gradually develop the common type of flo￭ ater which is present in most persons eyes is due to degenerative changes of the vit￭ re￭ ous humour the perception of flo￭ at￭ ers is known as my￭ o￭ des￭ op￭ sia or less commonly as my￭ od￭ ae￭ op￭ sia my￭ io￭ de￭ op￭ sia or my￭ io￭ des￭ op￭ sia they are also called mus￭ ca￭ e vol￭ it￭ antes latin flying flies or mou￭ ches vol￭ antes from the french flo￭ at￭ ers are visible because of the shadows they cast on the re￭ tina or ref￭ r￭ action of the light that passes through them and can appear alone or together with several others in one s visual field they may appear as spots th￭ reads or fragments of cob￭ we￭ bs which float slowly before the observer s eyes as these objects exist within the eye itself they are not optical illusions but are ent￭ op￭ tic phenomena they are not to be confused with visual snow although these two conditions may co exist
end￭ oph￭ thal￭ miti￭ s
end￭ oph￭ thal￭ miti￭ s is an infl￭ amm￭ ation of the internal coats of the eye it is a possible complic￭ ation of all intra￭ oc￭ ular sur￭ ger￭ ies particularly cat￭ ar￭ act surgery with possible loss of vision and the eye itself infectious ae￭ ti￭ ology is the most common and various bacteria and fun￭ gi have been isolated as the cause of the end￭ oph￭ thal￭ miti￭ s other causes include penetr￭ ating trauma allergic reaction and retained intra￭ oc￭ ular foreign bodies intr￭ av￭ it￭ real injections expose patients to the risk of end￭ oph￭ thal￭ miti￭ s but with an incidence rate usually less than 05
sympathetic oph￭ thal￭ mia
ph￭ th￭ is￭ is bul￭ bi
ph￭ th￭ is￭ is bul￭ bi is a shrun￭ ken non functional eye it may result from severe eye disease infl￭ amm￭ ation injury or it may represent a complic￭ ation of eye surgery treatment options include insertion of a pro￭ s￭ thesis which may be preceded by en￭ uc￭ le￭ ation of the eye
op￭ tic ne￭ uri￭ tis
an￭ terior is￭ chem￭ ic op￭ tic neuro￭ pa￭ thy
an￭ terior is￭ chem￭ ic op￭ tic neuro￭ pa￭ thy a￭ ion is a medical condition involving loss of vision due to damage to the op￭ tic nerve from insufficient blood supply a￭ ion is generally divided into two types arter￭ i￭ tic a￭ ion or aa￭ ion and non arter￭ i￭ tic a￭ ion na￭ ion or simply a￭ ion this article will focus primarily on non arter￭ i￭ tic a￭ ion
pap￭ il￭ le￭ dem￭ a
pap￭ il￭ le￭ dem￭ a or pap￭ il￭ lo￭ e￭ dem￭ a is op￭ tic dis￭ c sw￭ elling that is caused by increased in￭ trac￭ ran￭ ial pressure the sw￭ elling is usually bilateral and can occur over a period of hours to weeks unilateral presentation is extremely rare pap￭ il￭ le￭ dem￭ a is mostly seen as a symptom resulting from another path￭ op￭ hy￭ si￭ ological process
pap￭ il￭ le￭ dem￭ a or pap￭ il￭ lo￭ e￭ dem￭ a is op￭ tic dis￭ c sw￭ elling that is caused by increased in￭ trac￭ ran￭ ial pressure the sw￭ elling is usually bilateral and can occur over a period of hours to weeks unilateral presentation is extremely rare pap￭ il￭ le￭ dem￭ a is mostly seen as a symptom resulting from another path￭ op￭ hy￭ si￭ ological process in in￭ trac￭ ran￭ ial hyper￭ tension pap￭ il￭ le￭ dem￭ a most commonly occurs bilaterally when pap￭ il￭ le￭ dem￭ a is found on fun￭ do￭ sco￭ py further evaluation is warranted as vision loss can result if the underlying condition is not treated further evaluation with a ct or m￭ ri of the brain and or sp￭ ine is usually performed rec￭ ent￭ research has shown that point of care ul￭ tras￭ ound can be used to measure op￭ tic nerve she￭ ath diameter for detection of increased in￭ trac￭ ran￭ ial pressure and￭ shows good diagnostic test accuracy compared to ct thus if￭ there is a question of pap￭ il￭ le￭ dem￭ a on fun￭ do￭ scopic examination or if the op￭ tic￭ dis￭ c cannot be adequately vis￭ u￭ alized ul￭ tras￭ ound can be used to rapidly assess￭ for increased in￭ trac￭ ran￭ ial pressure and help direct further evaluation and￭ intervention unilateral pap￭ il￭ le￭ dem￭ a can suggest a disease in the eye itself such as an op￭ tic nerve gli￭ oma
le￭ ber s hereditary op￭ tic neuro￭ pa￭ thy
le￭ ber ’ s hereditary op￭ tic neuro￭ pa￭ thy l￭ hon or le￭ ber op￭ tic atro￭ phy is a mit￭ och￭ on￭ dri￭ ally inherited transmitted from mother to offspring de￭ generation of re￭ tin￭ al gang￭ lion cells r￭ g￭ cs and their ax￭ ons that leads to an acute or sub￭ acute loss of central vision this affects predominantly young adult males l￭ hon is only transmitted through the mother as it is primarily due to mutations in the mit￭ och￭ on￭ dri￭ al not nuclear genome and only the egg contributes mit￭ och￭ on￭ dri￭ a to the embryo l￭ hon is usually due to one of three pathogenic mit￭ och￭ on￭ dri￭ al dna mt￭ dna point mutations these mutations are at nucle￭ o￭ tide positions 117￭ 78 g to a 34￭ 60 g to a and 14￭ 4￭ 84 t to c respectively in the nd 4 nd 1 and nd 6 sub￭ unit genes of complex i of the oxid￭ ative phosphor￭ yl￭ ation chain in mit￭ och￭ on￭ dri￭ a men cannot pass on
le￭ ber ’ s hereditary op￭ tic neuro￭ pa￭ thy l￭ hon or le￭ ber op￭ tic atro￭ phy is a mit￭ och￭ on￭ dri￭ ally inherited transmitted from mother to offspring de￭ generation of re￭ tin￭ al gang￭ lion cells r￭ g￭ cs and their ax￭ ons that leads to an acute or sub￭ acute loss of central vision this affects predominantly young adult males l￭ hon is only transmitted through the mother as it is primarily due to mutations in the mit￭ och￭ on￭ dri￭ al not nuclear genome and only the egg contributes mit￭ och￭ on￭ dri￭ a to the embryo l￭ hon is usually due to one of three pathogenic mit￭ och￭ on￭ dri￭ al dna mt￭ dna point mutations these mutations are at nucle￭ o￭ tide positions 117￭ 78 g to a 34￭ 60 g to a and 14￭ 4￭ 84 t to c respectively in the nd 4 nd 1 and nd 6 sub￭ unit genes of complex i of the oxid￭ ative phosphor￭ yl￭ ation chain in mit￭ och￭ on￭ dri￭ a men cannot pass on the disease to their offspring
op￭ tic dis￭ c dr￭ usen
op￭ tic dis￭ c dr￭ usen odd or op￭ tic nerve head dr￭ usen on￭ hd are glob￭ ules of mu￭ co￭ proteins and mu￭ co￭ pol￭ ys￭ ac￭ ch￭ ari￭ des that progressively calci￭ fy in the op￭ tic dis￭ c they are thought to be the remnants of the ax￭ onal transport system of de￭ generated re￭ tin￭ al gang￭ lion cells odd have also been referred to as con￭ gen￭ it￭ ally elevated or anom￭ alous dis￭ cs pseu￭ dop￭ ap￭ il￭ le￭ dem￭ a pseu￭ don￭ eur￭ i￭ tis buried dis￭ c dr￭ usen and dis￭ c hy￭ al￭ ine bodies they may be associated with vision loss of varying degree occasionally resulting in blindness
cor￭ tical blindness
cor￭ tical blindness is the total or partial loss of vision in a normal appearing eye caused by damage to the brain s oc￭ ci￭ p￭ ital cor￭ tex cor￭ tical blindness can be acquired or con￭ genital and may also be transi￭ ent in certain instances acquired cor￭ tical blindness is most often caused by loss of blood flow to the oc￭ ci￭ p￭ ital cor￭ tex from either unilateral or bilateral poster￭ ior cere￭ br￭ al artery block￭ age is￭ chem￭ ic stroke and by cardiac surgery in most cases the complete loss of vision is not permanent and the patient may recover some of their vision cor￭ tical visual impairment con￭ genital cor￭ tical blindness is most often caused by per￭ in￭ atal is￭ chem￭ ic stroke en￭ ce￭ ph￭ ali￭ tis and men￭ ing￭ i￭ tis rarely a patient with acquired cor￭ tical blindness may have little or no insight that they have lost vision a
cor￭ tical blindness is the total or partial loss of vision in a normal appearing eye caused by damage to the brain s oc￭ ci￭ p￭ ital cor￭ tex cor￭ tical blindness can be acquired or con￭ genital and may also be transi￭ ent in certain instances acquired cor￭ tical blindness is most often caused by loss of blood flow to the oc￭ ci￭ p￭ ital cor￭ tex from either unilateral or bilateral poster￭ ior cere￭ br￭ al artery block￭ age is￭ chem￭ ic stroke and by cardiac surgery in most cases the complete loss of vision is not permanent and the patient may recover some of their vision cor￭ tical visual impairment con￭ genital cor￭ tical blindness is most often caused by per￭ in￭ atal is￭ chem￭ ic stroke en￭ ce￭ ph￭ ali￭ tis and men￭ ing￭ i￭ tis rarely a patient with acquired cor￭ tical blindness may have little or no insight that they have lost vision a phenomenon known as anton – bab￭ in￭ ski syndrome cor￭ tical blindness and cor￭ tical visual impairment c￭ vi which refers to the partial loss of vision caused by cor￭ tical damage are both classified as sub￭ sets of neuro￭ logical visual impairment n￭ vi n￭ vi and its three sub￭ types — cor￭ tical blindness cor￭ tical visual impairment and delayed visual matur￭ ation — must be distinguished from oc￭ ular visual impairment in terms of their different eti￭ o￭ logies and structural foc￭ i the brain and the eye respectively one diagnostic marker of this distinction is that the pupils of individuals with cor￭ tical blindness will respond to light whereas those of individuals with oc￭ ular visual impairment will not
chronic progressive external oph￭ thal￭ mop￭ legi￭ a
chronic progressive external oph￭ thal￭ mop￭ legi￭ a c￭ pe￭ o also known as progressive external oph￭ thal￭ mop￭ legi￭ a pe￭ o is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebro￭ ws it is often the only feature of mit￭ och￭ on￭ dri￭ al disease in which case the term c￭ pe￭ o may be given as the diagnosis in other people suffering from mit￭ och￭ on￭ dri￭ al disease c￭ pe￭ o occurs as part of a syndrome involving more than one part of the body such as ke￭ ar￭ ns say￭ re syndrome occasionally c￭ pe￭ o may be caused by conditions other than mit￭ och￭ on￭ dri￭ al diseases
str￭ ab￭ is￭ mus
str￭ ab￭ is￭ mus also called crossed eyes is a condition in which the eyes do not properly align with each other when looking at an object which eye is focused on the object in question can switch it may also be present occasionally or constantly if present during a large part of childhood am￭ bl￭ y￭ op￭ ia may result and depth perception may be lost adults may have double vision
str￭ ab￭ is￭ mus also called crossed eyes is a condition in which the eyes do not properly align with each other when looking at an object which eye is focused on the object in question can switch it may also be present occasionally or constantly if present during a large part of childhood am￭ bl￭ y￭ op￭ ia may result and depth perception may be lost adults may have double vision str￭ ab￭ is￭ mus can occur due to muscle dysfunction far￭ sightedness problems in the brain trauma or infections risk factors include premature birth cere￭ br￭ al pal￭ sy and a family history of the condition types include es￭ o￭ tro￭ p￭ ia where the eyes are crossed exo￭ tro￭ p￭ ia where the eyes diverge and hyper￭ tro￭ p￭ ia where they are vertically mis￭ aligned they can also be classified by whether the problem is present in all directions a person looks comit￭ ant or varies by direction in￭ comit￭ ant diagnosis may be by looking at the light reflecting from the eyes and finding it is not centered on the pupil another condition that produces similar symptoms is a cran￭ ial nerve pal￭ sy treatment depends on the type of str￭ ab￭ is￭ mus and the underlying cause this may include the use of glasses and possibly surgery some types benefit from early surgery str￭ ab￭ is￭ mus occurs in about 2 of children the term is from the greek str￭ ab￭ is￭ m￭ ós meaning to squ￭ int other terms for the condition include squ￭ int wall eye and cast of the eye
heter￭ oph￭ oria
heter￭ oph￭ oria is an eye condition in which the directions that the eyes are pointing at rest position when not performing bin￭ oc￭ ular fusion are not the same as each other or not straight there can be es￭ oph￭ oria where the eyes tend to cross inward in the absence of fusion ex￭ oph￭ oria in which they diverge or hyper￭ ph￭ oria in which one eye points up or down relative to the other ph￭ ori￭ as are known as latent squ￭ int because the tendency of the eyes to deviate is kept latent by fusion a person with two normal eyes has single vision usually because of the combined use of the sensory and motor systems the motor system acts to point both eyes at the target of interest any offset is detected vis￭ ually and the motor system correc￭ ts it heter￭ oph￭ oria only occurs during dissoci￭ ation of the
heter￭ oph￭ oria is an eye condition in which the directions that the eyes are pointing at rest position when not performing bin￭ oc￭ ular fusion are not the same as each other or not straight there can be es￭ oph￭ oria where the eyes tend to cross inward in the absence of fusion ex￭ oph￭ oria in which they diverge or hyper￭ ph￭ oria in which one eye points up or down relative to the other ph￭ ori￭ as are known as latent squ￭ int because the tendency of the eyes to deviate is kept latent by fusion a person with two normal eyes has single vision usually because of the combined use of the sensory and motor systems the motor system acts to point both eyes at the target of interest any offset is detected vis￭ ually and the motor system correc￭ ts it heter￭ oph￭ oria only occurs during dissoci￭ ation of the left eye and right eye when fusion of the eyes is absent if you cover one eye e g with your hand you remove the sensory information about the eye s position in the orbit without this there is no stimulus to bin￭ oc￭ ular fusion and the eye will move to a position of rest the difference between this position and where it would be were the eye uncovered is the heter￭ oph￭ oria the opposite of heter￭ oph￭ oria where the eyes are straight when relaxed and not f￭ using does not have an accepted term but might be called home￭ oph￭ oria or simply normal in contrast fixation disparity is a very small deviation of the pointing directions of the eyes that is present while performing bin￭ oc￭ ular fusion heter￭ oph￭ oria is usually as￭ ymp￭ tomatic this is when it is said to be compensated when fu￭ sional reserve is used to compensate for heter￭ oph￭ oria it is known as compensating ver￭ gence in severe cases when the heter￭ oph￭ oria is not overcome by fu￭ sional ver￭ gence sign and symptoms appear this is called de￭ compensated heter￭ oph￭ oria heter￭ oph￭ oria may lead to squ￭ int or also known as str￭ ab￭ is￭ mus
brown s syndrome
brown s syndrome is a rare form of str￭ ab￭ is￭ mus characterized by limited elev￭ ation of the affected eye the disorder may be con￭ genital existing at or before birth or acquired brown syndrome is caused by a mal￭ function of the superior obli￭ que muscle causing the eye to have difficulty moving up particularly during ad￭ duc￭ tion when eye turns towards the nose harold w brown first described the disorder in 1950 and initially named it the superior obli￭ que tend￭ on she￭ ath syndrome
du￭ ane syndrome
du￭ ane syndrome is a con￭ genital rare type of str￭ ab￭ is￭ mus most commonly characterized by the inability of the eye to move outw￭ ards the syndrome was first described by oph￭ thal￭ mo￭ logists jakob sti￭ lling 18￭ 87 and si￭ eg￭ m￭ und t￭ ür￭ k 18￭ 96 and subsequently named after alexander du￭ ane who discussed the disorder in more detail in 1905 other names for this condition include du￭ ane s re￭ traction syndrome eye re￭ traction syndrome re￭ traction syndrome con￭ genital re￭ traction syndrome and sti￭ lling t￭ ür￭ k du￭ ane syndrome
con￭ ju￭ gate gaze pal￭ sy
con￭ ju￭ gate gaze pal￭ sies are neuro￭ logical disorders affecting the ability to move both eyes in the same direction these pal￭ sies can affect gaze in a horizontal upward or downward direction these entities overlap with oph￭ thal￭ m￭ opa￭ res￭ is and oph￭ thal￭ mop￭ legi￭ a
inter￭ nuclear oph￭ thal￭ mop￭ legi￭ a
oc￭ ul￭ og￭ y￭ ric crisis
oc￭ ul￭ og￭ y￭ ric crisis og￭ c is the name of a dy￭ st￭ onic reaction to certain drugs or medical conditions characterized by a prolonged involuntary upward deviation of the eyes the term oc￭ ul￭ og￭ y￭ ric refers to the bilateral elev￭ ation of the visual gaze but several other responses are associated with the crisis epi￭ le￭ psy can manifest as oc￭ ul￭ og￭ y￭ ric seizures also called ver￭ sive seizures
far sightedness
far sightedness also known as hyper￭ op￭ ia is a condition of the eye where light focuses behind instead of on the re￭ tina this causes close objects to be blur￭ ry while far objects may appear normal as the disease wor￭ sens objects at all distances may be blur￭ ry other symptoms may include headaches and eye strain people with hyper￭ op￭ ia can also experience accommod￭ ative dysfunction bin￭ oc￭ ular dysfunction am￭ bl￭ y￭ op￭ ia and str￭ ab￭ is￭ mus far sightedness primarily affects young children with rates of 8 at 6 years and 1 at 15 years
far sightedness also known as hyper￭ op￭ ia is a condition of the eye where light focuses behind instead of on the re￭ tina this causes close objects to be blur￭ ry while far objects may appear normal as the disease wor￭ sens objects at all distances may be blur￭ ry other symptoms may include headaches and eye strain people with hyper￭ op￭ ia can also experience accommod￭ ative dysfunction bin￭ oc￭ ular dysfunction am￭ bl￭ y￭ op￭ ia and str￭ ab￭ is￭ mus the cause is an im￭ perfection in the eye often when the eye￭ ball is too short or the lens cannot become round enough causing the eye to not have enough power to see close or nearby objects it is a type of ref￭ r￭ active error correction is usually achieved by the use of conv￭ ex corrective l￭ enses for near objects the eye has to accommodate even more depending on the amount of hyper￭ op￭ ia and the age of the person which directly relates to the eye s accommod￭ ative ability the symptoms can be different far sightedness primarily affects young children with rates of 8 at 6 years and 1 at 15 years
ref￭ r￭ active error
ref￭ r￭ active error also known as ref￭ r￭ action error is a problem with focusing of light on the re￭ tina due to the shape of the eye the most common types of ref￭ r￭ active error are near sightedness far sightedness as￭ ti￭ gm￭ atism and pres￭ by￭ op￭ ia near sightedness results in far objects being blur￭ ry far sightedness result in close objects being blur￭ ry as￭ ti￭ gm￭ atism causes objects to appear stretched out or blur￭ ry and pres￭ by￭ op￭ ia results in a poor ability to focus on close objects other symptoms may include double vision headaches and eye strain
ref￭ r￭ active error also known as ref￭ r￭ action error is a problem with focusing of light on the re￭ tina due to the shape of the eye the most common types of ref￭ r￭ active error are near sightedness far sightedness as￭ ti￭ gm￭ atism and pres￭ by￭ op￭ ia near sightedness results in far objects being blur￭ ry far sightedness result in close objects being blur￭ ry as￭ ti￭ gm￭ atism causes objects to appear stretched out or blur￭ ry and pres￭ by￭ op￭ ia results in a poor ability to focus on close objects other symptoms may include double vision headaches and eye strain near sightedness is due to the length of the eye￭ ball being too long far sightedness the eye￭ ball too short as￭ ti￭ gm￭ atism the cor￭ ne￭ a being the wrong shape and pres￭ by￭ op￭ ia aging of the lens of the eye such that it cannot change shape sufficiently some ref￭ r￭ active errors are inherited from a person s parents diagnosis is by eye examination ref￭ r￭ active errors are corrected with eye￭ glasses contact l￭ enses or surgery eye￭ glasses are the easiest and safest method of correction contact l￭ enses can provide a wider field of vision however are associated with a risk of infection ref￭ r￭ active surgery permanently changes the shape of the cor￭ ne￭ a the number of people globally with ref￭ r￭ active errors has been estimated at one to two billion rates vary between regions of the world with about 25 of europeans and 80 of asians affected near sightedness is the most common disorder rates among adults are between 15 49 while rates among children are between 1 2 42 far sightedness more commonly affects young child and the elderly pres￭ by￭ op￭ ia affects most people over the age of 35 the number of people with ref￭ r￭ active errors that have not been corrected was estimated at 660 million 10 per 100 people in 2013 of these 9 5 million were blind due to the ref￭ r￭ active error it is one of the most common causes of vision loss along with cat￭ ar￭ acts mac￭ ular de￭ generation and vitamin a deficiency
near sightedness
near sightedness also known as short sightedness and myop￭ ia is a condition of the eye where light focuses in front instead of on the re￭ tina this causes distant objects to be blur￭ ry while close objects appear normal other symptoms may include headaches and eye strain severe near sightedness increases the risk of re￭ tin￭ al det￭ achment cat￭ ar￭ acts and gl￭ au￭ coma
near sightedness also known as short sightedness and myop￭ ia is a condition of the eye where light focuses in front instead of on the re￭ tina this causes distant objects to be blur￭ ry while close objects appear normal other symptoms may include headaches and eye strain severe near sightedness increases the risk of re￭ tin￭ al det￭ achment cat￭ ar￭ acts and gl￭ au￭ coma the underlying cause is believed to be a combination of genetic and environmental factors risk factors include doing work that involves focusing on close objects greater time spent in￭ doors and a family history of the condition it is also associated with a high socioeconomic class the underlying mechanism involves the length of the eye￭ ball being too long or less commonly the lens being too strong it is a type of ref￭ r￭ active error diagnosis is by eye examination there is tentative evidence that near sightedness can be prevented by having young children spend more time outside this may be related to natural light exposure near sightedness can be corrected with eye￭ glasses contact l￭ enses or surgery eye￭ glasses are the easiest and safest method of correction contact l￭ enses can provide a wider field of vision however are associated with a risk of infection ref￭ r￭ active surgery permanently changes the shape of the cor￭ ne￭ a near sightedness is the most common eye problem and is estimated to affect 1 5 billion people 22 of the population rates vary significantly in different areas of the world rates among adults are between 15 and 49 rates are similar in males and females among children it affect 1 2 of rural nepalese 4 of south africans 12 of americans and 37 in some large chinese cities rates have increased since the 1950 s un￭ corrected near sightedness is one of the most common causes of vision loss globally along with cat￭ ar￭ acts mac￭ ular de￭ generation and vitamin a deficiency
as￭ ti￭ gm￭ atism
as￭ ti￭ gm￭ atism is a type of ref￭ r￭ active error in which the eye does not focus light evenly on the re￭ tina this results in distorted or blurred vision at all distances other symptoms can include eye￭ strain headaches and trouble driving at night if it occurs early in life it can result in am￭ bl￭ y￭ op￭ ia the cause of as￭ ti￭ gm￭ atism is unclear it is believed to be partly related to genetic factors the underlying mechanism involves an irregular cur￭ v￭ ature of the cor￭ ne￭ a or ab￭ norm￭ alities in the lens of the eye diagnosis is by an eye exam
as￭ ti￭ gm￭ atism is a type of ref￭ r￭ active error in which the eye does not focus light evenly on the re￭ tina this results in distorted or blurred vision at all distances other symptoms can include eye￭ strain headaches and trouble driving at night if it occurs early in life it can result in am￭ bl￭ y￭ op￭ ia the cause of as￭ ti￭ gm￭ atism is unclear it is believed to be partly related to genetic factors the underlying mechanism involves an irregular cur￭ v￭ ature of the cor￭ ne￭ a or ab￭ norm￭ alities in the lens of the eye diagnosis is by an eye exam three options exist for the treatment glasses contact l￭ enses and surgery glasses are the simplest contact l￭ enses can provide a wider field of vision ref￭ r￭ active surgery permanently changes the shape of the eye in europe and asia as￭ ti￭ gm￭ atism affects between 30 and 60 of adults people of all ages can be affected as￭ ti￭ gm￭ atism was first reported by thomas young in the early 1800 s
anis￭ ome￭ tro￭ p￭ ia
anis￭ ome￭ tro￭ p￭ ia is the condition in which the two eyes have unequal ref￭ r￭ active power each eye can be near￭ sighted myop￭ ia far￭ sighted hyper￭ op￭ ia or a combination of both which is called anti￭ metro￭ p￭ ia generally a difference in power of two di￭ op￭ ters or more is the accepted threshold to label the condition anis￭ ome￭ tro￭ p￭ ia the name is from four greek components an not iso same metr measure ops eye estimated 6 of subjects aged 6 to 18 have anis￭ ome￭ tro￭ p￭ ia
anis￭ ei￭ k￭ onia
pres￭ by￭ op￭ ia
pres￭ by￭ op￭ ia is a condition associated with aging of the eye that results in progressively worsening ability to focus clearly on close objects symptoms include a hard time reading small print having to hold reading material farther away headaches and eye￭ strain different people will have different degrees of problems other types of ref￭ r￭ active errors may exist at the same time as pres￭ by￭ op￭ ia treatment is typically with eye glasses the eye￭ glasses used have higher focusing power in the lower portion of the lens off the shelf reading glasses may be sufficient for some
am￭ bl￭ y￭ op￭ ia
am￭ bl￭ y￭ op￭ ia also called lazy eye is a disorder of sight due to the eye and brain not working well together it results in decreased vision in an eye that otherwise typically appears normal it is the most common cause of decreased vision in a single eye among children and younger adults
pho￭ top￭ ho￭ bia
pho￭ top￭ ho￭ bia is a symptom of abnormal intolerance to visual perception of light as a medical symptom pho￭ top￭ ho￭ bia is not a mor￭ bid fear or pho￭ bia but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes though the term is sometimes additionally applied to abnormal or irrational fear of light such as heli￭ opho￭ bia the term pho￭ top￭ ho￭ bia comes from the greek φ￭ ῶ￭ ς ph￭ ō￭ s meaning light and φ￭ ό￭ β￭ ος pho￭ bos meaning fear
eye strain
eye strain also known as asth￭ en￭ op￭ ia is an eye condition that manifests itself through non￭ specific symptoms such as fatigue pain in or around the eyes blurred vision headache and occasional double vision symptoms often occur after reading computer work or other close activities that involve tedious visual tasks
di￭ pl￭ op￭ ia
di￭ pl￭ op￭ ia commonly known as double vision is the simultaneous perception of two images of a single object that may be displaced horizon￭ tally vertically diag￭ onally i e both vertically and horizon￭ tally or rot￭ ationally in relation to each other it is usually the result of impaired function of the extra￭ oc￭ ular muscles e￭ oms where both eyes are still functional but they cannot converge to target the desired object problems with e￭ oms may be due to mechanical problems disorders of the neuro￭ muscular junction disorders of the cran￭ ial nerves iii iv and vi that stimulate the muscles and occasionally disorders involving the supran￭ uc￭ lear oc￭ ul￭ om￭ o￭ tor pathways or ing￭ estion of toxins
di￭ pl￭ op￭ ia commonly known as double vision is the simultaneous perception of two images of a single object that may be displaced horizon￭ tally vertically diag￭ onally i e both vertically and horizon￭ tally or rot￭ ationally in relation to each other it is usually the result of impaired function of the extra￭ oc￭ ular muscles e￭ oms where both eyes are still functional but they cannot converge to target the desired object problems with e￭ oms may be due to mechanical problems disorders of the neuro￭ muscular junction disorders of the cran￭ ial nerves iii iv and vi that stimulate the muscles and occasionally disorders involving the supran￭ uc￭ lear oc￭ ul￭ om￭ o￭ tor pathways or ing￭ estion of toxins di￭ pl￭ op￭ ia can be one of the first signs of a systemic disease particularly to a muscular or neuro￭ logical process and it may disrupt a person ’ s balance movement and or reading abilities
an￭ op￭ sia
quad￭ ran￭ tan￭ op￭ ia
hem￭ i￭ an￭ op￭ sia
sco￭ tom￭ a
a sco￭ tom￭ a greek σ￭ κ￭ ό￭ τος sk￭ ó￭ tos darkness plural sco￭ tom￭ as or sco￭ tom￭ ata is an area of partial alteration in the field of vision consisting of a partially diminished or entirely de￭ generated visual acu￭ ity that is surrounded by a field of normal – or relatively well preserved – vision a sco￭ tom￭ a can be a symptom of damage to any part of the visual system such as re￭ tin￭ al damage from exposure to high powered las￭ ers mac￭ ular de￭ generation and brain damage
a sco￭ tom￭ a greek σ￭ κ￭ ό￭ τος sk￭ ó￭ tos darkness plural sco￭ tom￭ as or sco￭ tom￭ ata is an area of partial alteration in the field of vision consisting of a partially diminished or entirely de￭ generated visual acu￭ ity that is surrounded by a field of normal – or relatively well preserved – vision every normal mamm￭ al eye has a sco￭ tom￭ a in its field of vision usually termed its blind spot this is a location with no photo￭ recep￭ tor cells where the re￭ tin￭ al gang￭ lion cell ax￭ ons that com￭ pose the op￭ tic nerve exit the re￭ tina this location is called the op￭ tic dis￭ c there is no direct conscious awareness of visual sco￭ tom￭ as they are simply regions of reduced information within the visual field rather than recognizing an incomplete image patients with sco￭ tom￭ as report that things disappear on them the presence of the blind spot sco￭ tom￭ a can be demonstrated subjec￭ tively by covering one eye carefully holding fixation with the open eye and placing an object such as one s thumb in the lateral and horizontal visual field about 15 degrees from fixation see the blind spot article the size of the mon￭ oc￭ ular sco￭ tom￭ a is 5 × 7 degrees of visual angle a sco￭ tom￭ a can be a symptom of damage to any part of the visual system such as re￭ tin￭ al damage from exposure to high powered las￭ ers mac￭ ular de￭ generation and brain damage the term sco￭ tom￭ a is also used met￭ aphor￭ ically in several fields the common theme of all the figurative senses is of a gap not in visual function but in the mind s perception cogn￭ ition or world view
dic￭ h￭ rom￭ acy
dic￭ h￭ rom￭ acy di meaning two and ch￭ roma meaning color is the state of having two types of functioning color recep￭ tors called cone cells in the eyes organisms with dic￭ h￭ rom￭ acy are called dic￭ h￭ ro￭ mats dic￭ h￭ ro￭ mats can match any color they see with a mixture of no more than two pure spectr￭ al lights by comparison tric￭ h￭ ro￭ mats require three pure spectr￭ al lights to match all colors that they can perceive and tetr￭ ach￭ ro￭ mats require four
dic￭ h￭ rom￭ acy di meaning two and ch￭ roma meaning color is the state of having two types of functioning color recep￭ tors called cone cells in the eyes organisms with dic￭ h￭ rom￭ acy are called dic￭ h￭ ro￭ mats dic￭ h￭ ro￭ mats can match any color they see with a mixture of no more than two pure spectr￭ al lights by comparison tric￭ h￭ ro￭ mats require three pure spectr￭ al lights to match all colors that they can perceive and tetr￭ ach￭ ro￭ mats require four dic￭ h￭ rom￭ acy in humans is a color vision defect in which one of the three basic color mechanisms is absent or not functioning it is hereditary and sex linked predominantly affecting males dic￭ h￭ rom￭ acy occurs when one of the cone pig￭ ments is missing and color is reduced to two dimensions
color blindness
color blindness also known as color vision deficiency is the decreased ability to see color or differences in color color blindness can make some educational activities difficult buying fruit picking clothing and reading traffic lights can also be more challenging problems however are generally minor and most people adapt people with total color blindness may also have decreased visual acu￭ ity and be uncomfortable in bright environments
color blindness also known as color vision deficiency is the decreased ability to see color or differences in color color blindness can make some educational activities difficult buying fruit picking clothing and reading traffic lights can also be more challenging problems however are generally minor and most people adapt people with total color blindness may also have decreased visual acu￭ ity and be uncomfortable in bright environments the most common cause of color blindness is a fault in the development of one or more of the three sets of color sensing con￭ es in the eye males are more likely to be color blind than females as the genes responsible for the most common forms of color blindness are on the x chro￭ mo￭ some as females have two x chro￭ mo￭ som￭ es a defect in one is typically compensated for by the other while males only have one x chro￭ mo￭ some color blindness can also result from physical or chemical damage to the eye op￭ tic nerve or parts of the brain diagnosis is typically with the is￭ hi￭ hara color test however a number of other testing methods also exist there is no cure for color blindness diagnosis may allow a person s teacher to change their method of teaching to accommodate the decreased ability to recognize color special l￭ enses may help people with red green color blindness when under bright conditions there are also mobile app￭ s that can help people identify colors red green color blindness is the most common form followed by blue yellow color blindness and total color blindness red green color blindness affects up to 8 of males and 0 5 of females of northern european descent the ability to see color also decreases in old age being color blind may make people ineligible for certain jobs in certain countries this may include pilot train driver and armed forces the effect of color blindness on artistic ability however is controversial the ability to draw appears to be unchanged and a number of famous artists are believed to have been color blind
ach￭ ro￭ mat￭ op￭ sia
ach￭ ro￭ mat￭ op￭ sia ach￭ m also known as total color blindness is a medical syndrome that exhi￭ bits symptoms relating to at least five conditions the term may refer to acquired conditions such as cere￭ br￭ al ach￭ ro￭ mat￭ op￭ sia also known as color agno￭ sia but it typically refers to an auto￭ som￭ al rec￭ essive con￭ genital color vision condition the inability to perceive color and to achieve satisfactory visual acu￭ ity at high light levels typically exter￭ ior daylight the syndrome is also present in an incomplete form which is more properly defined as dy￭ schro￭ mat￭ op￭ sia it is estimated to affect 1 in 40 000 live births worldwide
ach￭ ro￭ mat￭ op￭ sia ach￭ m also known as total color blindness is a medical syndrome that exhi￭ bits symptoms relating to at least five conditions the term may refer to acquired conditions such as cere￭ br￭ al ach￭ ro￭ mat￭ op￭ sia also known as color agno￭ sia but it typically refers to an auto￭ som￭ al rec￭ essive con￭ genital color vision condition the inability to perceive color and to achieve satisfactory visual acu￭ ity at high light levels typically exter￭ ior daylight the syndrome is also present in an incomplete form which is more properly defined as dy￭ schro￭ mat￭ op￭ sia it is estimated to affect 1 in 40 000 live births worldwide there is some discussion as to whether ach￭ ro￭ mats can see color or not as illustrated in the island of the color￭ blind by oliver sacks some ach￭ ro￭ mats cannot see color only black white and shades of grey with five different genes currently known to cause similar symptoms it may be that some do see marginal levels of color differentiation due to different gene characteristics with such small sample sizes and low response rates it is difficult to accurately diagnose the typical ach￭ rom￭ atic conditions if the light level during testing is optimi￭ zed for them they may achieve corrected visual acu￭ ity of 20 100 to 20 150 at lower light levels regardless of the absence of color one common trait is h￭ emer￭ al￭ op￭ ia or blindness in full sun in patients with ach￭ ro￭ mat￭ op￭ sia the cone system and fibres carrying color information remain intact this indicates that the mechanism used to construct colors is defective
ny￭ c￭ tal￭ op￭ ia
ny￭ c￭ tal￭ op￭ ia ˌ￭ n￭ ɪ￭ kt￭ ə￭ l￭ ˈ￭ o￭ ʊ￭ pi￭ ə from greek ν￭ ύ￭ κ￭ τ ny￭ kt night ἀ￭ λα￭ ός al￭ a￭ os blind not seeing and ὄ￭ ψ ops eye also called night blindness is a condition making it difficult or impossible to see in relatively low light it is a symptom of several eye diseases night blindness may exist from birth or be caused by injury or malnutrition for example a lack of vitamin a it can be described as insufficient adaptation to darkness the opposite problem the inability to see in bright light is known as h￭ emer￭ al￭ op￭ ia and is much r￭ arer
ny￭ c￭ tal￭ op￭ ia ˌ￭ n￭ ɪ￭ kt￭ ə￭ l￭ ˈ￭ o￭ ʊ￭ pi￭ ə from greek ν￭ ύ￭ κ￭ τ ny￭ kt night ἀ￭ λα￭ ός al￭ a￭ os blind not seeing and ὄ￭ ψ ops eye also called night blindness is a condition making it difficult or impossible to see in relatively low light it is a symptom of several eye diseases night blindness may exist from birth or be caused by injury or malnutrition for example a lack of vitamin a it can be described as insufficient adaptation to darkness the most common cause of ny￭ c￭ tal￭ op￭ ia is ret￭ initi￭ s pi￭ gm￭ ent￭ osa a disorder in which the rod cells in the re￭ tina gradually lose their ability to respond to the light patients suffering from this genetic condition have progressive ny￭ c￭ tal￭ op￭ ia and eventually their day￭ time vision may also be affected in x linked con￭ genital stationary night blindness from birth the rods either do not work at all or work very little but the condition doesn t get worse another cause of night blindness is a deficiency of re￭ tin￭ ol or vitamin a found in fish oils liver and dairy products the opposite problem the inability to see in bright light is known as h￭ emer￭ al￭ op￭ ia and is much r￭ arer since the outer area of the re￭ tina is made up of more rods than con￭ es loss of peripheral vision often results in night blindness individuals suffering from night blindness not only see poorly at night but also require extra time for their eyes to adjust from brigh￭ tly lit areas to dim ones contrast vision may also be greatly reduced rods contain a recep￭ tor protein called rho￭ dop￭ sin when light falls on rho￭ dop￭ sin it under￭ goes a series of conform￭ ational changes ultimately generating electrical signals which are carried to the brain via the op￭ tic nerve in the absence of light rho￭ dop￭ sin is regener￭ ated the body synthe￭ sizes rho￭ dop￭ sin from vitamin a which is why a deficiency in vitamin a causes poor night vision ref￭ r￭ active vision correction surgery especially pr￭ k with the complic￭ ation of ha￭ ze may rarely cause a reduction in best night time acu￭ ity due to the impairment of contrast sensitivity function c￭ sf which is induced by intra￭ oc￭ ular light scat￭ ter resulting from surgical intervention in the natural structural integrity of the cor￭ ne￭ a
visual impairment
visual impairment also known as vision impairment or vision loss is a decreased ability to see to a degree that causes problems not fix￭ able by usual means such as glasses some also include those who have a decreased ability to see because they do not have access to glasses or contact l￭ enses visual impairment is often defined as a best corrected visual acu￭ ity of worse than either 20 40 or 20 60 the term blindness is used for complete or nearly complete vision loss visual impairment may cause people difficulties with normal daily activities such as driving reading soci￭ alizing and walking
op￭ so￭ cl￭ onus my￭ o￭ cl￭ onus syndrome
mi￭ osis
adi￭ e syndrome
anis￭ oc￭ oria
o￭ ti￭ tis exter￭ na
o￭ ti￭ tis exter￭ na also known as swim￭ mer s ear is an infl￭ amm￭ ation of the ear canal it often presents with ear pain sw￭ elling of the ear canal and occasionally decreased hearing typically there is pain with movement of the outer ear a high fever is typically not present except in severe cases
o￭ ti￭ tis exter￭ na also known as swim￭ mer s ear is an infl￭ amm￭ ation of the ear canal it often presents with ear pain sw￭ elling of the ear canal and occasionally decreased hearing typically there is pain with movement of the outer ear a high fever is typically not present except in severe cases o￭ ti￭ tis exter￭ na may be acute meaning less than six weeks or chronic meaning more than three months in duration acute cases are typically due to a bacterial infection while chronic cases are often due to allergies or auto￭ immune disorders risk factors for acute cases include swimming minor trauma from cleaning using hearing aids or ear plu￭ gs and other skin problems like ps￭ ori￭ asis or der￭ mati￭ tis those with diabetes are at risk of a severe form of disease known as m￭ align￭ ant o￭ ti￭ tis exter￭ na diagnosis is based on the signs and symptoms cul￭ turing the ear canal may be useful in chronic or severe cases acetic acid ear drops may be used as a preventative measure treatment of acute cases is typically with antibiotic drops such as of￭ lo￭ x￭ ac￭ in or acetic acid ster￭ o￭ id drops may be used in addition to antibiotics pain medications such as i￭ bu￭ prof￭ en may be used for the pain antibiotics by mouth are not recommended unless the person has poor immune function or there is infection of the skin around the ear typically improvement occurs within a day of starting treatment treatment of chronic cases depends on the cause o￭ ti￭ tis exter￭ na affects 1 3 of people a year with more than 95 of cases being acute about 10 of people are affected at some point in their life it occurs most commonly among children between the ages of seven and twelve and among the elderly it occurs with near equal frequency in males and females those who live in warm and wet clim￭ ates are more often affected
o￭ ti￭ tis media
o￭ ti￭ tis media is a group of infl￭ am￭ matory diseases of the middle ear the two main types are acute o￭ ti￭ tis media a￭ om and o￭ ti￭ tis media with eff￭ usion ome a￭ om is an infection of abrupt onset that usually presents with ear pain in young children this may result in pulling at the ear increased crying and poor sleep decreased eating and a fever may also be present ome is typically not associated with symptoms occasionally a feeling of ful￭ l￭ ness is described it is defined as the presence of non infectious fluid in the middle ear for more than three months chronic sup￭ pur￭ ative o￭ ti￭ tis media c￭ som is middle ear infl￭ amm￭ ation of greater than two weeks that results in episodes of discharge from the ear it may be a complic￭ ation of acute o￭ ti￭ tis media pain is rarely present all three may be as
pat￭ ulous eu￭ st￭ achi￭ an tube
pat￭ ulous eu￭ st￭ achi￭ an tube also known as patent eu￭ st￭ achi￭ an tube is the name of a physical disorder where the eu￭ st￭ achi￭ an tube which is normally closed instead stays inter￭ mit￭ tently open when this occurs the patient experiences autop￭ hon￭ y the hearing of self generated sounds these sounds such as one s own breathing voice and heartbeat vibr￭ ate directly onto the ear drum and can create a bucket on the head effect
ma￭ sto￭ idi￭ tis
ma￭ sto￭ idi￭ tis is the result of an infection that extends to the air cells of the skull behind the ear specifically it is an infl￭ amm￭ ation of the mu￭ cos￭ al lining of the ma￭ sto￭ id an￭ tr￭ um and ma￭ sto￭ id air cell system inside the ma￭ sto￭ id process the ma￭ sto￭ id process is the portion of the temporal bone of the skull that is behind the ear which contains open air containing spaces ma￭ sto￭ idi￭ tis is usually caused by untreated acute o￭ ti￭ tis media middle ear infection and used to be a leading cause of child mortality with the development of antibiotics however ma￭ sto￭ idi￭ tis has become quite rare in developed countries where surgical treatment is now much less frequent and more conservative unlike former times additionally there is no evidence that the drop in antibiotic prescribing for o￭ ti￭ tis media h
bez￭ old s abs￭ c￭ ess
bez￭ old s abs￭ c￭ ess is an abs￭ c￭ ess in the ster￭ no￭ cle￭ id￭ om￭ ast￭ o￭ id muscle where p￭ us from a ma￭ sto￭ idi￭ tis escapes into the ster￭ no￭ cle￭ id￭ om￭ ast￭ o￭ id it is a rare complic￭ ation of acute o￭ ti￭ tis media
cho￭ le￭ ste￭ atom￭ a
o￭ tos￭ clerosis
o￭ tos￭ clerosis or o￭ to￭ spongi￭ osis is an abnormal growth of bone near the middle ear it can result in hearing loss the term o￭ tos￭ clerosis is somewhat of a mis￭ no￭ mer much of the clinical course is characterised by luc￭ ent rather than s￭ cl￭ erotic bon￭ y changes hence it is also known as o￭ to￭ spongi￭ osis
mé￭ ni￭ ère s disease
mé￭ ni￭ ère s disease md is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning ver￭ ti￭ go ringing in the ears tin￭ nit￭ us hearing loss and a ful￭ l￭ ness in the ear typically only one ear is affected at least initially however over time both ears may become involved episodes generally last from 20 minutes to a few hours the time between episodes varies the hearing loss and ringing in the ears may become constant over time
mé￭ ni￭ ère s disease md is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning ver￭ ti￭ go ringing in the ears tin￭ nit￭ us hearing loss and a ful￭ l￭ ness in the ear typically only one ear is affected at least initially however over time both ears may become involved episodes generally last from 20 minutes to a few hours the time between episodes varies the hearing loss and ringing in the ears may become constant over time the cause of mé￭ ni￭ ère s disease is unclear but likely involves both genetic and environmental factors a number of theories exist for why it occurs including con￭ stric￭ tions in blood vessels viral infections and auto￭ immune reactions about 10 of cases run in families symptoms are believed to occur as the result of increased fluid build up in the labyrin￭ th of the inner ear diagnosis is based on the symptoms and frequently a hearing test other conditions that may produce similar symptoms include vesti￭ bul￭ ar migr￭ aine and transi￭ ent is￭ chem￭ ic attack there is no cure attacks are often treated with medications to help with the naus￭ ea and anxiety measures to prevent attacks are overall poorly supported by the evidence a low salt diet di￭ u￭ re￭ tics and cor￭ ti￭ co￭ ster￭ oids may be tried physical therapy may help with balance and counselling may help with anxiety injections into the ear or surgery may also be tried if other measures are not effective but are associated with risks the use of ty￭ mp￭ ano￭ stom￭ y tubes while popular is not supported mé￭ ni￭ ère s disease was first identified in the early 1800 s by prosper mé￭ ni￭ ère it affects between 0 3 and 1 9 per 1 000 people it most often starts in the 40 s to 60 s females are more commonly affected than males after 5 – 15 years the episodes of world spinning generally stop and the person is left with mild loss of balance moderately poor hearing in the affected ear and ringing in their ear
benign par￭ oxy￭ sm￭ al posi￭ tional ver￭ ti￭ go
benign par￭ oxy￭ sm￭ al posi￭ tional ver￭ ti￭ go b￭ pp￭ v is a disorder arising from a problem in the inner ear symptoms are repeated brief periods of ver￭ ti￭ go with movement that is of a spinning sensation caused by changes in the position of the head this can occur with turning in bed or changing position each episode of ver￭ ti￭ go typically lasts less than one minute naus￭ ea is commonly associated b￭ pp￭ v is one of the most common causes of ver￭ ti￭ go
hearing loss
hearing loss also known as hearing impairment is a partial or total inability to hear a deaf person has little to no hearing hearing loss may occur in one or both ears in children hearing problems can affect the ability to learn language and in adults it can cause work related difficulties in some people particularly older people hearing loss can result in lon￭ eliness hearing loss can be temporary or permanent
o￭ to￭ toxicity
o￭ to￭ toxicity is the property of being toxic to the ear oto specifically the co￭ ch￭ lea or aud￭ itory nerve and sometimes the vesti￭ bul￭ ar system for example as a side effect of a drug the effects of o￭ to￭ toxicity can be reversible and temporary or irreversible and permanent it has been recognised since the 19 th century there are many well known o￭ to￭ toxic drugs used in clinical situations and they are prescribed despite the risk of hearing disorders to very serious health conditions o￭ to￭ toxic drugs include antibiotics such as gent￭ am￭ ic￭ in loop di￭ u￭ re￭ tics such as fu￭ ro￭ sem￭ ide and plat￭ inum based chem￭ otherapy agents such as cis￭ pl￭ atin a number of non￭ ster￭ o￭ idal anti infl￭ am￭ matory drugs n￭ s￭ aids have also been shown to be o￭ to￭ toxic this can result in sens￭ or￭ in￭ eur￭ al hearing loss dy￭ sequ￭ ili￭ bri￭ um or bo
pres￭ by￭ cus￭ is
pres￭ by￭ cus￭ is also spelled pres￭ by￭ ac￭ us￭ is from greek pres￭ b￭ ys “ old ” ak￭ ous￭ is “ hearing ” or age related hearing loss is the cumulative effect of aging on hearing it is a progressive and irreversible bilateral symmetr￭ ical age related sens￭ or￭ in￭ eur￭ al hearing loss resulting from de￭ generation of the co￭ ch￭ lea or associated structures of the inner ear or aud￭ itory nerves the hearing loss is most marked at higher frequencies hearing loss that accumul￭ ates with age but is caused by factors other than normal aging no￭ so￭ cus￭ is and soci￭ oc￭ us￭ is is not pres￭ by￭ cus￭ is although differentiating the individual effects of multiple causes of hearing loss can be difficult
tin￭ nit￭ us
tin￭ nit￭ us is the hearing of sound when no external sound is present while often described as a ringing it may also sound like a clic￭ king his￭ s or ro￭ aring rarely unclear voices or music are heard the sound may be soft or loud low pitched or high pitched and appear to be coming from one ear or both most of the time it comes on gradually in some people the sound causes depression anxiety or interferes with concentration
hyper￭ ac￭ us￭ is
hyper￭ ac￭ us￭ is also spelled hyper￭ acous￭ is is a health condition characterized by an increased sensitivity to certain frequency and volume ranges of sound a collapsed tolerance to usual environmental sound a person with severe hyper￭ ac￭ us￭ is has difficulty tolerating everyday sounds some of which may seem un￭ pleas￭ antly or painfully loud to that person but not to others 25 of people with tin￭ nit￭ us report mild hyper￭ ac￭ us￭ is
r￭ heu￭ matic fever
r￭ heu￭ matic fever r￭ f also known as acute r￭ heu￭ matic fever ar￭ f is an infl￭ am￭ matory disease that can involve the heart joints skin and brain the disease typically develops two to four weeks after a st￭ rep￭ to￭ coc￭ cal throat infection signs and symptoms include fever multiple painful joints involuntary muscle movements and occasionally a characteristic non it￭ chy rash known as er￭ y￭ them￭ a margin￭ at￭ um the heart is involved in about half of cases damage to the heart valves known as r￭ heu￭ matic heart disease rh￭ d usually occurs after multiple attacks but can sometimes occur after a single attack the damaged valves may result in heart failure atri￭ al fi￭ bri￭ ll￭ ation and infection of the valves
r￭ heu￭ matic fever r￭ f also known as acute r￭ heu￭ matic fever ar￭ f is an infl￭ am￭ matory disease that can involve the heart joints skin and brain the disease typically develops two to four weeks after a st￭ rep￭ to￭ coc￭ cal throat infection signs and symptoms include fever multiple painful joints involuntary muscle movements and occasionally a characteristic non it￭ chy rash known as er￭ y￭ them￭ a margin￭ at￭ um the heart is involved in about half of cases damage to the heart valves known as r￭ heu￭ matic heart disease rh￭ d usually occurs after multiple attacks but can sometimes occur after a single attack the damaged valves may result in heart failure atri￭ al fi￭ bri￭ ll￭ ation and infection of the valves r￭ heu￭ matic fever may occur following an infection of the throat by the bacteria st￭ rep￭ to￭ co￭ cc￭ us py￭ o￭ genes if the infection is untreated r￭ heu￭ matic fever can occur in up to three percent of people the underlying mechanism is believed to involve the production of antibodies against a person s own tissues some people due to their genetics are more likely to get the disease when exposed to the bacteria than others other risk factors include malnutrition and poverty diagnosis of r￭ f is often based on the presence of signs and symptoms in combination with evidence of a recent st￭ rep￭ to￭ coc￭ cal infection treating people who have stre￭ p throat with antibiotics such as pen￭ ic￭ ill￭ in decreases the risk of developing r￭ heu￭ matic fever in order to avoid antibiotic misuse this often involves testing people with sore throats for the infection which may not be available in the developing world other preventive measures include improved sanitation in those with r￭ heu￭ matic fever and r￭ heu￭ matic heart disease prolonged periods of antibiotics are sometimes recommended gradual return to normal activities may occur following an attack once rh￭ d develops treatment is more difficult occasionally valve replacement surgery or valve repair is required otherwise complications are treated as per normal r￭ heu￭ matic fever occurs in about 325 000 children each year and about 18 million people currently have r￭ heu￭ matic heart disease those who develop r￭ f are most often between the ages of 5 and 14 with 20 of first time attacks occurring in adults the disease is most common in the developing world and among indigenous peoples in the developed world in 2013 it resulted in 275 000 deaths down from 374 000 deaths in 1990 most deaths occur in the developing world where as many as 12 5 of people affected may die each year descriptions of the condition are believed to date back to at least the 5 th century b￭ ce in the writ￭ ings of hippo￭ crates the disease is so named because its symptoms are similar to those of some r￭ heu￭ matic disorders
peric￭ ardi￭ tis
peric￭ ardi￭ tis is infl￭ amm￭ ation of the peric￭ ardi￭ um the fi￭ bro￭ us s￭ ac surrounding the heart symptoms typically include sudden onset of sharp chest pain the pain may also be felt in the shoulders neck or back it is typically better sitting up and worse with lying down or breathing deep other symptoms may include fever weakness pal￭ p￭ itations and short￭ ness of breath occasionally onset of symptoms is gradual
sy￭ den￭ ham s cho￭ rea
sy￭ den￭ ham s cho￭ rea sc or cho￭ rea minor historically referred to as saint vit￭ us dance is a disorder characterized by rapid uncoordinated jer￭ king movements primarily affecting the face hands and feet sy￭ den￭ ham s cho￭ rea results from childhood infection with group a beta ha￭ emol￭ y￭ tic st￭ rep￭ to￭ co￭ cc￭ us and is reported to occur in 20 – 30 of patients with acute r￭ heu￭ matic fever ar￭ f the disease is usually latent occurring up to 6 months after the acute infection but may occasionally be the presenting symptom of r￭ heu￭ matic fever sy￭ den￭ ham s cho￭ rea is more common in females than males and most patients are children below 18 years of age adult onset of sy￭ den￭ ham s cho￭ rea is comparatively rare and the majority of the adult cases are associated with exacerb￭ ation of cho￭ rea following childhood sy￭ den￭ ham
sy￭ den￭ ham s cho￭ rea sc or cho￭ rea minor historically referred to as saint vit￭ us dance is a disorder characterized by rapid uncoordinated jer￭ king movements primarily affecting the face hands and feet sy￭ den￭ ham s cho￭ rea results from childhood infection with group a beta ha￭ emol￭ y￭ tic st￭ rep￭ to￭ co￭ cc￭ us and is reported to occur in 20 – 30 of patients with acute r￭ heu￭ matic fever ar￭ f the disease is usually latent occurring up to 6 months after the acute infection but may occasionally be the presenting symptom of r￭ heu￭ matic fever sy￭ den￭ ham s cho￭ rea is more common in females than males and most patients are children below 18 years of age adult onset of sy￭ den￭ ham s cho￭ rea is comparatively rare and the majority of the adult cases are associated with exacerb￭ ation of cho￭ rea following childhood sy￭ den￭ ham s cho￭ rea
val￭ vul￭ ar heart disease
val￭ vul￭ ar heart disease is any disease process involving one or more of the four valves of the heart the a￭ or￭ tic and mit￭ ral valves on the left and the pul￭ mon￭ ary and tric￭ us￭ pid valves on the right these conditions occur largely as a result of aging most people are in their late 50 s when diagnosed and more than one in ten people over 75 have it early detection may improve outcomes from surgery
val￭ vul￭ ar heart disease is any disease process involving one or more of the four valves of the heart the a￭ or￭ tic and mit￭ ral valves on the left and the pul￭ mon￭ ary and tric￭ us￭ pid valves on the right these conditions occur largely as a result of aging most people are in their late 50 s when diagnosed and more than one in ten people over 75 have it early detection may improve outcomes from surgery collectively and anatom￭ ically the valves are part of the dense connec￭ tive tissue makeup of the heart known as the cardiac skelet￭ on valve problems may be con￭ genital in￭ born or acquired due to another cause later in life treatment may be with medication but often depending on the severity involves valve repair or replacement insertion of an artificial heart valve specific situations include those where additional demands are made on the circulation such as in pregnancy
mit￭ ral valve sten￭ osis
mit￭ ral sten￭ osis is a val￭ vul￭ ar heart disease characterized by the narrowing of the ori￭ fice of the mit￭ ral valve of the heart
mit￭ ral in￭ sufficiency
a￭ or￭ tic in￭ sufficiency
tric￭ us￭ pid in￭ sufficiency
my￭ o￭ cardi￭ tis
my￭ o￭ cardi￭ tis also known as infl￭ am￭ matory cardi￭ om￭ y￭ opathy is infl￭ amm￭ ation of the heart muscle the consequences of my￭ o￭ cardi￭ tis vary widely it can cause a mild disease without any symptoms that resol￭ ves itself or it may cause chest pain heart failure or sudden death an acute my￭ o￭ cardi￭ al inf￭ arc￭ tion like syndrome with normal coron￭ ary arter￭ ies has a good prog￭ no￭ sis heart failure even with a dil￭ ated left ven￭ tric￭ le may have a good prog￭ no￭ sis ven￭ tric￭ ular arr￭ hy￭ th￭ mi￭ as and high degree heart block have a poor prog￭ no￭ sis loss of right ven￭ tric￭ ular function is a strong predic￭ tor of death
hyper￭ ten￭ sive emergency
a hyper￭ ten￭ sive emergency syst￭ ol￭ ic over 180 or di￭ ast￭ ol￭ ic over 120 formerly called m￭ align￭ ant hyper￭ tension is hyper￭ tension high blood pressure with acute impairment of one or more organ systems especially the central nervous system cardiovascular system and or the ren￭ al system that can result in irreversible organ damage in a hyper￭ ten￭ sive emergency the blood pressure should be slowly lowered over a period of minutes to hours with an anti￭ hyper￭ ten￭ sive agent
hyper￭ ten￭ sive ne￭ ph￭ ro￭ pa￭ thy
hyper￭ ten￭ sive ne￭ ph￭ ro￭ pa￭ thy or hyper￭ ten￭ sive ne￭ ph￭ ros￭ clerosis or hyper￭ ten￭ sive kidney disease is a medical condition referring to damage to the kidney due to chronic high blood pressure it should be distinguished from renov￭ ascular hyper￭ tension i 15 0 which is a form of secondary hyper￭ tension
cardi￭ o￭ ren￭ al syndrome
cardi￭ o￭ ren￭ al syndrome crs is an umbrella term used in the medical field that defines disorders of the heart and kidneys whereby “ acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other ” the heart and the kidneys are involved in maintaining hem￭ od￭ y￭ nam￭ ic stability and organ per￭ fusion through an intricate network these two organs communicate with one another through a variety of pathways in an interdependent relationship in a 2004 report from national heart lung and blood institute crs was defined as a condition where treatment of cong￭ estive heart failure is limited by decline in kidney function this definition has since been challenged repeatedly but there still remains little consensus over a universally accepted definition for crs at a consensu
cardi￭ o￭ ren￭ al syndrome crs is an umbrella term used in the medical field that defines disorders of the heart and kidneys whereby “ acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other ” the heart and the kidneys are involved in maintaining hem￭ od￭ y￭ nam￭ ic stability and organ per￭ fusion through an intricate network these two organs communicate with one another through a variety of pathways in an interdependent relationship in a 2004 report from national heart lung and blood institute crs was defined as a condition where treatment of cong￭ estive heart failure is limited by decline in kidney function this definition has since been challenged repeatedly but there still remains little consensus over a universally accepted definition for crs at a consensus conference of the acute dial￭ ysis quality initiative ad￭ q￭ i the crs was classified into five sub￭ types primarily based upon the organ that initiated the insult as well as the acu￭ ity of disease
li￭ ddle s syndrome
li￭ ddle s syndrome also called li￭ ddle syndrome and pseu￭ do￭ hyper￭ al￭ do￭ ster￭ on￭ ism is a genetic disorder inherited in an auto￭ som￭ al dominant manner that is characterized by early and frequently severe high blood pressure associated with low plasma ren￭ in activity metabol￭ ic al￭ k￭ alo￭ sis low blood potassium and normal to low levels of al￭ do￭ ster￭ one li￭ ddle syndrome involves abnormal kidney function with excess re￭ absorption of sodium and loss of potassium from the ren￭ al tu￭ bu￭ le and is treated with a combination of low sodium diet and potassium spar￭ ing di￭ u￭ re￭ tic drugs e g am￭ il￭ oride it is extremely rare with fewer than 30 pedi￭ gre￭ es or isolated cases having been reported worldwide as of 2008
ang￭ ina pec￭ tor￭ is
ang￭ ina pec￭ tor￭ is commonly known as ang￭ ina is the sensation of chest pain pressure or squeezing often due to is￭ chem￭ ia of the heart muscle from obstruction or sp￭ asm of the coron￭ ary arter￭ ies while ang￭ ina pec￭ tor￭ is can derive from an￭ emia abnormal heart rhy￭ th￭ ms and heart failure its main cause is coron￭ ary artery disease an a￭ ther￭ os￭ cl￭ erotic process affecting the arter￭ ies feeding the heart the term derives from the latin ang￭ ere to str￭ angle and pec￭ tus chest and can therefore be translated as a strang￭ ling feeling in the chest
coron￭ ary artery disease
coron￭ ary artery disease cad also known as is￭ chem￭ ic heart disease i￭ hd is a group of diseases that includes stable ang￭ ina unstable ang￭ ina my￭ o￭ cardi￭ al inf￭ arc￭ tion and sudden cardiac death it is within the group of cardiovascular diseases of which it is the most common type a common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw occasionally it may feel like heart￭ burn usually symptoms occur with exercise or emotional stress last less than a few minutes and get better with rest short￭ ness of breath may also occur and sometimes no symptoms are present the first sign is occasionally a heart attack other complications include heart failure or an irregular heartbeat
coron￭ ary artery disease cad also known as is￭ chem￭ ic heart disease i￭ hd is a group of diseases that includes stable ang￭ ina unstable ang￭ ina my￭ o￭ cardi￭ al inf￭ arc￭ tion and sudden cardiac death it is within the group of cardiovascular diseases of which it is the most common type a common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw occasionally it may feel like heart￭ burn usually symptoms occur with exercise or emotional stress last less than a few minutes and get better with rest short￭ ness of breath may also occur and sometimes no symptoms are present the first sign is occasionally a heart attack other complications include heart failure or an irregular heartbeat risk factors include high blood pressure smoking diabetes lack of exercise obesity high blood cho￭ le￭ sterol poor diet and excessive alcohol among others other risks include depression the underlying mechanism involves a￭ ther￭ os￭ clerosis of the arter￭ ies of the heart a number of tests may help with diagnoses including electro￭ cardi￭ o￭ gram cardiac stress testing coron￭ ary compu￭ ted tom￭ o￭ graphic an￭ gi￭ o￭ graphy and coron￭ ary an￭ gi￭ o￭ gram among others prevention is by eating a healthy diet regular exercise maintaining a healthy weight and not smoking sometimes medication for diabetes high cho￭ le￭ sterol or high blood pressure are also used there is limited evidence for screening people who are at low risk and do not have symptoms treatment involves the same measures as prevention additional medications such as anti￭ plat￭ el￭ ets including aspir￭ in beta bloc￭ kers or nitro￭ gly￭ cer￭ in may be recommended procedures such as per￭ cu￭ taneous coron￭ ary intervention p￭ ci or coron￭ ary artery bypass surgery cab￭ g may be used in severe disease in those with stable cad it is unclear if p￭ ci or cab￭ g in addition to the other treatments improve life expectancy or decreases heart attack risk in 2013 cad was the most common cause of death globally resulting in 8 14 million deaths 16 8 up from 5 74 million deaths 12 in 1990 the risk of death from cad for a given age has decreased between 1980 and 2010 especially in developed countries the number of cases of cad for a given age has also decreased between 1990 and 2010 in the united states in 2010 about 20 of those over 65 had cad while it was present in 7 of those 45 to 64 and 1 3 of those 18 to 45 rates are higher among men than women of a given age
prin￭ z￭ metal s ang￭ ina
prin￭ z￭ metal s or prin￭ z￭ metal ang￭ ina ˈ￭ pr￭ ɪ￭ nt￭ sm￭ ɛ￭ t￭ ə￭ l sounds like prints metal also known as variant ang￭ ina ang￭ ina in￭ versa or coron￭ ary vessel sp￭ asm is a syndrome typically consisting of ang￭ ina cardiac chest pain at rest that occurs in cycles it is caused by vas￭ o￭ sp￭ asm a narrowing of the coron￭ ary arter￭ ies caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by a￭ ther￭ os￭ clerosis buil￭ dup of fatty pla￭ que and hard￭ ening of the arter￭ ies
prin￭ z￭ metal s or prin￭ z￭ metal ang￭ ina ˈ￭ pr￭ ɪ￭ nt￭ sm￭ ɛ￭ t￭ ə￭ l sounds like prints metal also known as variant ang￭ ina ang￭ ina in￭ versa or coron￭ ary vessel sp￭ asm is a syndrome typically consisting of ang￭ ina cardiac chest pain at rest that occurs in cycles it is caused by vas￭ o￭ sp￭ asm a narrowing of the coron￭ ary arter￭ ies caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by a￭ ther￭ os￭ clerosis buil￭ dup of fatty pla￭ que and hard￭ ening of the arter￭ ies for a portion of patients prin￭ z￭ metal s ang￭ ina may be a manifestation of vas￭ o￭ sp￭ astic disorder and is associated with migr￭ aine ray￭ n￭ aud s phenomenon or aspir￭ in induced asthma
my￭ o￭ cardi￭ al inf￭ arc￭ tion
my￭ o￭ cardi￭ al inf￭ arc￭ tion mi or acute my￭ o￭ cardi￭ al inf￭ arc￭ tion ami commonly known as a heart attack occurs when blood flow stops to a part of the heart causing damage to the heart muscle the most common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw often it is in the center or left side of the chest and lasts for more than a few minutes the discomfort may occasionally feel like heart￭ burn other symptoms may include short￭ ness of breath naus￭ ea feeling faint a cold sweat or feeling tired about 30 of people have atypical symptoms with women more likely than men to present aty￭ p￭ ically among those over 75 years old about 5 have had an mi with little or no history of symptoms an mi may cause heart failure an irregular heartbeat or ca
my￭ o￭ cardi￭ al inf￭ arc￭ tion mi or acute my￭ o￭ cardi￭ al inf￭ arc￭ tion ami commonly known as a heart attack occurs when blood flow stops to a part of the heart causing damage to the heart muscle the most common symptom is chest pain or discomfort which may travel into the shoulder arm back neck or jaw often it is in the center or left side of the chest and lasts for more than a few minutes the discomfort may occasionally feel like heart￭ burn other symptoms may include short￭ ness of breath naus￭ ea feeling faint a cold sweat or feeling tired about 30 of people have atypical symptoms with women more likely than men to present aty￭ p￭ ically among those over 75 years old about 5 have had an mi with little or no history of symptoms an mi may cause heart failure an irregular heartbeat or cardiac arrest most mis occur due to coron￭ ary artery disease risk factors include high blood pressure smoking diabetes lack of exercise obesity high blood cho￭ le￭ sterol poor diet and excessive alcohol intake among others the mechanism of an mi often involves the complete block￭ age of a coron￭ ary artery caused by a rupture of an a￭ ther￭ os￭ cl￭ erotic pla￭ que mis are less commonly caused by coron￭ ary artery sp￭ as￭ ms which may be due to cocaine significant emotional stress and extreme cold among others a number of tests are useful to help with diagnosis including electro￭ cardi￭ o￭ grams ec￭ gs blood tests and coron￭ ary an￭ gi￭ o￭ graphy an ec￭ g may confirm an st elev￭ ation mi if st elev￭ ation is present commonly used blood tests include tro￭ pon￭ in and less often cre￭ at￭ ine kin￭ ase mb aspir￭ in is an appropriate immediate treatment for a suspected mi nitro￭ gly￭ cer￭ in or op￭ io￭ ids may be used to help with chest pain however they do not improve overall outcomes supplem￭ ental oxygen should be used in those with low oxygen levels or short￭ ness of breath in st elev￭ ation mis treatments which attempt to restore blood flow to the heart are typically recommended and include an￭ gi￭ op￭ la￭ sty where the arter￭ ies are pushed open or thro￭ m￭ bol￭ ysis where the block￭ age is removed using medications people who have a non st elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion n￭ stem￭ i are often managed with the blood thin￭ ner he￭ par￭ in with the additional use of an￭ gi￭ op￭ la￭ sty in those at high risk in people with block￭ ages of multiple coron￭ ary arter￭ ies and diabetes bypass surgery cab￭ g may be recommended rather than an￭ gi￭ op￭ la￭ sty after an mi lifestyle modifications along with long term treatment with aspir￭ in beta bloc￭ kers and stat￭ ins are typically recommended worldwide about 8 6 million my￭ o￭ cardi￭ al inf￭ arc￭ tions occurred in 2013 more than 3 million people had an st elev￭ ation mi and more than 4 million had an n￭ stem￭ i stem￭ is occur about twice as often in men as women about one million people have an mi each year in the united states in the developed world the risk of death in those who have had an stem￭ i is about 10 rates of mi for a given age have decreased globally between 1990 and 2010
coron￭ ary thro￭ m￭ bo￭ sis
coron￭ ary thro￭ m￭ bo￭ sis is the formation of a blood clo￭ t inside a blood vessel of the heart this blood clo￭ t restricts blood flow within the heart it is associated with narrowing of blood vessels subsequent to clo￭ tting the condition is considered as a type of is￭ cha￭ emic heart disease coron￭ ary thro￭ m￭ bo￭ sis can be a complic￭ ation associated with drug elu￭ ting st￭ ents
dres￭ sl￭ er syndrome
acute coron￭ ary syndrome
acute coron￭ ary syndrome acs is a syndrome set of signs and symptoms due to decreased blood flow in the coron￭ ary arter￭ ies such that part of the heart muscle is unable to function properly or dies the most common symptom is chest pain often radi￭ ating to the left arm or angle of the jaw pressure like in character and associated with naus￭ ea and swe￭ ating acute coron￭ ary syndrome is usually caused by one of three problems st elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion stem￭ i 30 non st elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion n￭ stem￭ i 25 or unstable ang￭ ina 38
acute coron￭ ary syndrome acs is a syndrome set of signs and symptoms due to decreased blood flow in the coron￭ ary arter￭ ies such that part of the heart muscle is unable to function properly or dies the most common symptom is chest pain often radi￭ ating to the left arm or angle of the jaw pressure like in character and associated with naus￭ ea and swe￭ ating acute coron￭ ary syndrome is usually caused by one of three problems st elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion stem￭ i 30 non st elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion n￭ stem￭ i 25 or unstable ang￭ ina 38 these types are named according to the appearance of the electro￭ cardi￭ o￭ gram ec￭ g e￭ kg as non st segment elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion and st segment elev￭ ation my￭ o￭ cardi￭ al inf￭ arc￭ tion there can be some variation as to which forms of my￭ o￭ cardi￭ al inf￭ arc￭ tion mi are classified under acute coron￭ ary syndrome acs should be distinguished from stable ang￭ ina which develops during exer￭ tion and resol￭ ves at rest in contrast with stable ang￭ ina unstable ang￭ ina occurs suddenly often at rest or with minimal exer￭ tion or at lesser degrees of exer￭ tion than the individual s previous ang￭ ina cres￭ c￭ endo ang￭ ina new onset ang￭ ina is also considered unstable ang￭ ina since it suggests a new problem in a coron￭ ary artery though acs is usually associated with coron￭ ary thro￭ m￭ bo￭ sis it can also be associated with cocaine use cardiac chest pain can also be precipit￭ ated by an￭ emia brad￭ y￭ cardi￭ as excessively slow heart rate or t￭ ach￭ y￭ cardi￭ as excessively fast heart rate
arter￭ i￭ os￭ clerosis
arter￭ i￭ os￭ clerosis is the thick￭ ening hard￭ ening and loss of el￭ as￭ tic￭ ity of the walls of arter￭ ies this process gradually restricts the blood flow to one s organs and tissues and can lead to severe health risks brought on by a￭ ther￭ os￭ clerosis which is a specific form of arter￭ i￭ os￭ clerosis caused by the buil￭ dup of fatty pl￭ aqu￭ es cho￭ le￭ sterol and some other substances in and on the artery walls
cardi￭ om￭ y￭ opathy
cardi￭ om￭ y￭ opathy is a group of diseases that affect the heart muscle early on there may be few or no symptoms others may have short￭ ness of breath feel tired or have sw￭ elling of the legs due to heart failure an irregular heart beat may occur as well as fain￭ ting those affected are at an increased risk sudden cardiac death
cardi￭ om￭ y￭ opathy is a group of diseases that affect the heart muscle early on there may be few or no symptoms others may have short￭ ness of breath feel tired or have sw￭ elling of the legs due to heart failure an irregular heart beat may occur as well as fain￭ ting those affected are at an increased risk sudden cardiac death types of cardi￭ om￭ y￭ opathy include hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy dil￭ ated cardi￭ om￭ y￭ opathy restrictive cardi￭ om￭ y￭ opathy arr￭ hy￭ th￭ mo￭ genic right ven￭ tric￭ ular dys￭ pl￭ asia and broken heart syndrome in hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy the heart muscle enlar￭ ges and thick￭ ens in dil￭ ated cardi￭ om￭ y￭ opathy the ven￭ tric￭ les enlarge and weaken in restrictive cardi￭ om￭ y￭ opathy the ven￭ tric￭ le sti￭ ff￭ ens the cause is frequently unknown hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy is often and dil￭ ated cardi￭ om￭ y￭ opathy in a third of cases is inherited from a person s parents dil￭ ated cardi￭ om￭ y￭ opathy may also result from alcohol heavy metals coron￭ ary heart disease cocaine use and viral infections restrictive cardi￭ om￭ y￭ opathy may be caused by amy￭ lo￭ ido￭ sis h￭ emo￭ chro￭ mat￭ osis and some cancer treatments broken heart syndrome is caused by extreme emotional or physical stress treatment depends on the type of cardi￭ om￭ y￭ opathy and the degree of symptoms treatments may include lifestyle changes medications or surgery in 2013 cardi￭ om￭ y￭ opathy and my￭ o￭ cardi￭ tis affected 7 9 million people hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy affects about 1 in 500 people while dil￭ ated cardi￭ om￭ y￭ opathy affects 1 in 2 500 they resulted in 443 000 deaths up from 294 000 in 1990 arr￭ hy￭ th￭ mo￭ genic right ven￭ tric￭ ular dys￭ pl￭ asia is more common in young people
pul￭ mon￭ ary embol￭ ism
pul￭ mon￭ ary embol￭ ism pe is a block￭ age of an artery in the lungs by a substance that has traveled from elsewhere in the body through the blood￭ stream embol￭ ism symptoms of a pe may include short￭ ness of breath chest pain particularly upon breathing in and cou￭ gh￭ ing up blood symptoms of a blood clo￭ t in the leg may also be present such as a red warm sw￭ oll￭ en and painful leg signs of a pe include low blood oxygen levels rapid breathing rapid heart rate and sometimes a mild fever severe cases can lead to passing out abnormally low blood pressure and sudden death
pul￭ mon￭ ary heart disease
pul￭ mon￭ ary heart disease also known as cor pul￭ mon￭ ale is the enlargement and failure of the right ven￭ tric￭ le of the heart as a response to increased vascular resistance such as from pul￭ mon￭ ic sten￭ osis or high blood pressure in the lungs
pul￭ mon￭ ary hyper￭ tension
arter￭ io￭ ven￭ ous f￭ ist￭ ula
peric￭ ardi￭ al eff￭ usion
peric￭ ardi￭ al eff￭ usion fluid around the heart is an abnormal accumulation of fluid in the peric￭ ardi￭ al cav￭ ity because of the limited amount of space in the peric￭ ardi￭ al cav￭ ity fluid accumulation leads to an increased intr￭ aper￭ ic￭ ardi￭ al pressure which can negatively affect heart function a peric￭ ardi￭ al eff￭ usion with enough pressure to adversely affect heart function is called cardiac tam￭ pon￭ ade peric￭ ardi￭ al eff￭ usion usually results from a disturbed equilibrium between the production and re absorption of peric￭ ardi￭ al fluid or from a structural ab￭ normality that allows fluid to enter the peric￭ ardi￭ al cav￭ ity
cardiac tam￭ pon￭ ade
cardiac tam￭ pon￭ ade also known as peric￭ ardi￭ al tam￭ pon￭ ade is when fluid in the peric￭ ardi￭ um the s￭ ac around the heart builds up and results in compression of the heart onset may be rapid or more gradual symptoms typically include those of cardi￭ ogenic shock including short￭ ness of breath weakness ligh￭ the￭ ad￭ ed￭ ness and cough other symptoms may relate to the underlying cause
cardiac tam￭ pon￭ ade also known as peric￭ ardi￭ al tam￭ pon￭ ade is when fluid in the peric￭ ardi￭ um the s￭ ac around the heart builds up and results in compression of the heart onset may be rapid or more gradual symptoms typically include those of cardi￭ ogenic shock including short￭ ness of breath weakness ligh￭ the￭ ad￭ ed￭ ness and cough other symptoms may relate to the underlying cause common causes include cancer kidney failure chest trauma and peric￭ ardi￭ tis other causes include connec￭ tive tissue diseases hypo￭ thyro￭ i￭ dis￭ m a￭ or￭ tic rupture and following cardiac surgery in africa tuberculosis is a relatively common cause diagnosis may be suspected based on low blood pressure ju￭ g￭ ular ven￭ ous dis￭ tension peric￭ ardi￭ al rub or quiet heart sounds the diagnosis may be further supported by specific electro￭ cardi￭ o￭ gram ec￭ g changes chest x ray or an ul￭ tras￭ ound of the heart if fluid increases slowly the peric￭ ardi￭ al s￭ ac can expand to contain more than 2 lit￭ ers however if the increase is rapid as little as 200 ml can result in tam￭ pon￭ ade when tam￭ pon￭ ade results in symptoms drainage is necessary this can be done by peric￭ ardi￭ oc￭ ent￭ esis surgery to create a peric￭ ardi￭ al window or a peric￭ ardi￭ ec￭ tomy drainage may also be necessary to rule out infection or cancer other treatments may include the use of do￭ but￭ amine or in those with low blood volume intra￭ ven￭ ous fluids those with few symptoms and no worrisome features can often be closely followed the frequency of tam￭ pon￭ ade is unclear one estimate from the united states places it at 2 per 10 000 per year
endo￭ cardi￭ tis
endo￭ cardi￭ tis is an infl￭ amm￭ ation of the inner layer of the heart the endo￭ cardi￭ um it usually involves the heart valves other structures that may be involved include the interven￭ tric￭ ular sep￭ tum the ch￭ ord￭ ae tend￭ ine￭ ae the m￭ ural endo￭ cardi￭ um or the surfaces of in￭ trac￭ ardi￭ ac devices endo￭ cardi￭ tis is characterized by le￭ sions known as vege￭ tations which is a mass of plat￭ el￭ ets fi￭ br￭ in micro￭ colonies of micro￭ organisms and scant in￭ fl￭ am￭ matory cells in the sub￭ acute form of infec￭ tive endo￭ cardi￭ tis the vegetation may also include a center of gran￭ ul￭ om￭ at￭ ous tissue which may fi￭ bro￭ se or calci￭ fy
endo￭ cardi￭ tis is an infl￭ amm￭ ation of the inner layer of the heart the endo￭ cardi￭ um it usually involves the heart valves other structures that may be involved include the interven￭ tric￭ ular sep￭ tum the ch￭ ord￭ ae tend￭ ine￭ ae the m￭ ural endo￭ cardi￭ um or the surfaces of in￭ trac￭ ardi￭ ac devices endo￭ cardi￭ tis is characterized by le￭ sions known as vege￭ tations which is a mass of plat￭ el￭ ets fi￭ br￭ in micro￭ colonies of micro￭ organisms and scant in￭ fl￭ am￭ matory cells in the sub￭ acute form of infec￭ tive endo￭ cardi￭ tis the vegetation may also include a center of gran￭ ul￭ om￭ at￭ ous tissue which may fi￭ bro￭ se or calci￭ fy there are several ways to classify endo￭ cardi￭ tis the simplest classification is based on cause either infec￭ tive or non infec￭ tive depending on whether a micro￭ organism is the source of the infl￭ amm￭ ation or not regardless the diagnosis of endo￭ cardi￭ tis is based on clinical features investigations such as an echo￭ cardi￭ o￭ gram and blood cultures demonstrating the presence of endo￭ cardi￭ tis causing micro￭ organisms signs and symptoms include fever ch￭ ills swe￭ ating malaise weakness an￭ ore￭ x￭ ia weight loss splen￭ om￭ eg￭ al￭ y flu like feeling cardiac mur￭ m￭ ur heart failure pe￭ tec￭ hia of an￭ terior trunk jan￭ e￭ way s le￭ sions etc
mit￭ ral valve pro￭ lapse
mit￭ ral valve pro￭ lapse m￭ vp a k a fl￭ op￭ py mit￭ ral valve syndrome syst￭ ol￭ ic click mur￭ m￭ ur syndrome or bil￭ lowing mit￭ ral leaflet is a val￭ vul￭ ar heart disease characterized by the displacement of an abnormally thick￭ ened mit￭ ral valve leaflet into the left atri￭ um during syst￭ ole it is the primary form of my￭ x￭ om￭ at￭ ous de￭ generation of the valve there are various types of m￭ vp broadly classified as classic and non￭ classic in its non￭ classic form m￭ vp carries a low risk of complications and often can be kept minimal by dietary attention in severe cases of classic m￭ vp complications include mit￭ ral reg￭ urg￭ itation infec￭ tive endo￭ cardi￭ tis cong￭ estive heart failure and in rare circumstances cardiac arrest
a￭ or￭ tic sten￭ osis
a￭ or￭ tic sten￭ osis as or a￭ os is the narrowing of the exit of the left ven￭ tric￭ le of the heart where the a￭ or￭ ta begins such that problems result it may occur at the a￭ or￭ tic valve as well as above and below this level it typically gets worse over time symptoms often come on gradually with a decreased ability to exercise often occurring first if heart failure loss of consciousness or heart related chest pain occurs due to as the outcomes are worse loss of consciousness typically occurs with standing or exercise signs of heart failure include short￭ ness of breath especially when lying down at night or with exercise and sw￭ elling of the legs thick￭ ening of the valve without narrowing is known as a￭ or￭ tic sclerosis
a￭ or￭ tic sten￭ osis as or a￭ os is the narrowing of the exit of the left ven￭ tric￭ le of the heart where the a￭ or￭ ta begins such that problems result it may occur at the a￭ or￭ tic valve as well as above and below this level it typically gets worse over time symptoms often come on gradually with a decreased ability to exercise often occurring first if heart failure loss of consciousness or heart related chest pain occurs due to as the outcomes are worse loss of consciousness typically occurs with standing or exercise signs of heart failure include short￭ ness of breath especially when lying down at night or with exercise and sw￭ elling of the legs thick￭ ening of the valve without narrowing is known as a￭ or￭ tic sclerosis causes include being born with a bic￭ us￭ pid a￭ or￭ tic valve and r￭ heu￭ matic fever a bic￭ us￭ pid a￭ or￭ tic valve affects about one to two percent of the population while r￭ heu￭ matic heart disease mostly occurring in the developing world a normal valve however may also har￭ den over the decades risk factors are similar to those of coron￭ ary artery disease and include smoking high blood pressure high cho￭ le￭ sterol diabetes and being male the a￭ or￭ tic valve usually has three leaf￭ lets and is located between the left ven￭ tric￭ le of the heart and the a￭ or￭ ta as typically results in a heart mur￭ m￭ ur its severity can be divided into mild moderate severe and very severe based on ul￭ tras￭ ound of the heart findings a￭ or￭ tic sten￭ osis is typically followed using repeated ul￭ tras￭ ounds once it has become severe treatment primarily involves valve replacement surgery with trans￭ cathe￭ ter a￭ or￭ tic valve replacement ta￭ v￭ r being an option in some who are at high risk from surgery valves may either be mechanical or bio￭ pro￭ s￭ thetic with each having risks and benefits another less invasive procedure balloon a￭ or￭ tic val￭ vul￭ op￭ la￭ sty b￭ av may result in benefit but this is for only for a few months complications like heart failure may be treated as per normal in those with mild to moderate as in those with severe disease a number of medications should be avoided including ace inhi￭ bit￭ ors nitro￭ gly￭ cer￭ in and some beta bloc￭ kers nitro￭ prus￭ side or phen￭ y￭ le￭ phr￭ ine may be used in those with de￭ compensated heart failure depending on the blood pressure a￭ or￭ tic sten￭ osis is the most common val￭ vul￭ ar heart disease in the developed world it affects about 2 of people who are over 65 years of age estimated rates are not known in most of the developing world as of 2014 in those who have symptoms without repair the chance of death at five years is about 50 and at 10 years is about 90 a￭ or￭ tic sten￭ osis was first described by french physician la￭ z￭ are ri￭ vi￭ ère in 16￭ 63
pul￭ mon￭ ary valve sten￭ osis
dil￭ ated cardi￭ om￭ y￭ opathy
dil￭ ated cardi￭ om￭ y￭ opathy d￭ cm is a condition in which the heart becomes enlarged and cannot pump blood efficiently the decreased heart function can affect the lungs liver and other body systems d￭ cm is one of the cardi￭ om￭ y￭ opath￭ ies a group of diseases that affect primarily the heart muscle different cardi￭ om￭ y￭ opath￭ ies have different causes and affect the heart in different ways in d￭ cm a portion of the my￭ o￭ cardi￭ um is dil￭ ated often without any obvious cause left or right ven￭ tric￭ ular syst￭ ol￭ ic pump function of the heart is impaired leading to progressive heart enlargement via ven￭ tric￭ ular hyper￭ tro￭ phy and ven￭ tric￭ ular dil￭ ation a process called ven￭ tric￭ ular remo￭ deling
hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy
hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy h￭ cm is a disease in which a portion of the my￭ o￭ cardi￭ um heart muscle is enlarged without any obvious cause creating functional impairment of the heart it is the leading cause of sudden death in young athletes the occurrence of hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy is a significant cause of sudden cardiac death in any age group and a cause of disab￭ ling cardiac symptoms h￭ cm is frequently as￭ ymp￭ tomatic until sudden cardiac death and for this reason some suggest routinely screening certain populations for this disease
hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy h￭ cm is a disease in which a portion of the my￭ o￭ cardi￭ um heart muscle is enlarged without any obvious cause creating functional impairment of the heart it is the leading cause of sudden death in young athletes the occurrence of hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy is a significant cause of sudden cardiac death in any age group and a cause of disab￭ ling cardiac symptoms h￭ cm is frequently as￭ ymp￭ tomatic until sudden cardiac death and for this reason some suggest routinely screening certain populations for this disease a cardi￭ om￭ y￭ opathy is a disease that affects the muscle of the heart with h￭ cm the my￭ oc￭ y￭ tes cardiac contr￭ acti￭ le cells in the heart increase in size which results in the thick￭ ening of the heart muscle in addition the normal alignment of muscle cells is disrupted a phenomenon known as my￭ o￭ cardi￭ al disarray h￭ cm also causes disruptions of the electrical functions of the heart h￭ cm is most commonly due to a mutation in one of nine sar￭ com￭ eric genes that results in a mut￭ ated protein in the sar￭ com￭ ere the primary component of the my￭ oc￭ y￭ te the muscle cell of the heart these are predominantly single point mis￭ sense mutations in the genes for beta my￭ os￭ in heavy chain mh￭ c my￭ os￭ in binding protein c cardiac tro￭ pon￭ int or tro￭ po￭ my￭ os￭ in these mutations cause my￭ o￭ fi￭ bri￭ l and my￭ oc￭ y￭ te structural ab￭ norm￭ alities and possible deficiencies in force generation while most literature so far focuses on european american and japanese populations h￭ cm appears in all ethnic groups the prevalence of h￭ cm is about 0 2 to 0 5 of the general population
tak￭ ot￭ sub￭ o cardi￭ om￭ y￭ opathy
atri￭ o￭ ven￭ tric￭ ular block
atri￭ o￭ ven￭ tric￭ ular block av block is a type of heart block in which the conduc￭ tion between the atri￭ a and ven￭ tric￭ les of the heart is impaired under normal conditions the sin￭ o￭ atri￭ al no￭ de sa no￭ de in the atri￭ a sets the pace for the heart and these impul￭ ses travel down to the ven￭ tric￭ les in an av block this message does not reach the ven￭ tric￭ les or is impaired along the way the ven￭ tric￭ les of the heart have their own pac￭ ing mechanisms which can maintain a lowered heart rate in the absence of sa stimulation there are three types
left an￭ terior fasc￭ icular block
left an￭ terior fasc￭ icular block laf￭ b is an abnormal condition of the left ven￭ tric￭ le of the heart related to but distinguished from left bundle branch block l￭ b￭ bb it is caused by only the an￭ terior half of the left bundle branch being defective it is manifested on the ec￭ g by left axis deviation it is much more common than left poster￭ ior fasc￭ icular block
left bundle branch block
left bundle branch block l￭ b￭ bb is a cardiac conduc￭ tion ab￭ normality seen on the electro￭ cardi￭ o￭ gram ec￭ g in this condition activation of the left ven￭ tric￭ le of the heart is delayed which causes the left ven￭ tric￭ le to contract later than the right ven￭ tric￭ le
bundle branch block
left poster￭ ior fasc￭ icular block
a left poster￭ ior fasc￭ icular block l￭ p￭ f￭ b is a condition where the left poster￭ ior fasc￭ ic￭ le which travels to the inferior and poster￭ ior portion of the left ven￭ tric￭ le does not conduct the electrical impul￭ ses from the atri￭ o￭ ven￭ tric￭ ular no￭ de the wave front instead moves more quickly through the left an￭ terior fasc￭ ic￭ le and right bundle branch leading to a right axis deviation seen on the ec￭ g the american heart association has defined a l￭ p￭ f￭ b as the broad nature of the poster￭ ior bundle as well as its dual blood supply makes isolated l￭ p￭ f￭ b rare
a left poster￭ ior fasc￭ icular block l￭ p￭ f￭ b is a condition where the left poster￭ ior fasc￭ ic￭ le which travels to the inferior and poster￭ ior portion of the left ven￭ tric￭ le does not conduct the electrical impul￭ ses from the atri￭ o￭ ven￭ tric￭ ular no￭ de the wave front instead moves more quickly through the left an￭ terior fasc￭ ic￭ le and right bundle branch leading to a right axis deviation seen on the ec￭ g the american heart association has defined a l￭ p￭ f￭ b as frontal plane axis between 90 ° and 180 ° in adults rs pattern in leads i and av￭ l q￭ r pattern in leads iii and av￭ f q￭ rs duration less than 120 ms the broad nature of the poster￭ ior bundle as well as its dual blood supply makes isolated l￭ p￭ f￭ b rare
right bundle branch block
a right bundle branch block r￭ b￭ bb is a heart block in the electrical conduc￭ tion system during a right bundle branch block the right ven￭ tric￭ le is not directly activated by impul￭ ses travelling through the right bundle branch the left ven￭ tric￭ le however is still normally activated by the left bundle branch these impul￭ ses are then able to travel through the my￭ o￭ cardi￭ um of the left ven￭ tric￭ le to the right ven￭ tric￭ le and de￭ pol￭ arize the right ven￭ tric￭ le this way as conduc￭ tion through the my￭ o￭ cardi￭ um is slower than conduc￭ tion through the bundle of his pur￭ k￭ inj￭ e fibres the q￭ rs complex is seen to be widened the q￭ rs complex often shows an extra defl￭ ection which reflects the rapid de￭ polarisation of the left ven￭ tric￭ le followed by the slower de￭ polarisation of the right ven￭ tric￭ le
a right bundle branch block r￭ b￭ bb is a heart block in the electrical conduc￭ tion system during a right bundle branch block the right ven￭ tric￭ le is not directly activated by impul￭ ses travelling through the right bundle branch the left ven￭ tric￭ le however is still normally activated by the left bundle branch these impul￭ ses are then able to travel through the my￭ o￭ cardi￭ um of the left ven￭ tric￭ le to the right ven￭ tric￭ le and de￭ pol￭ arize the right ven￭ tric￭ le this way as conduc￭ tion through the my￭ o￭ cardi￭ um is slower than conduc￭ tion through the bundle of his pur￭ k￭ inj￭ e fibres the q￭ rs complex is seen to be widened the q￭ rs complex often shows an extra defl￭ ection which reflects the rapid de￭ polarisation of the left ven￭ tric￭ le followed by the slower de￭ polarisation of the right ven￭ tric￭ le in most cases right bundle branch block has a pathological cause though it is also seen in healthy individuals
sin￭ o￭ atri￭ al block
the initial impulse in a heart is usually formed in the sin￭ o￭ atri￭ al sa no￭ de and carried through the atri￭ a down the inter￭ no￭ dal atri￭ al pathways and to the atri￭ o￭ ven￭ tric￭ ular av no￭ de in normal conduc￭ tion the impulse would travel across the “ bundle of his ” av bundle down the bundle branches and into the pur￭ k￭ inj￭ e fi￭ bers this would de￭ pol￭ arize the ven￭ tric￭ les and cause them to contract
pre exc￭ itation syndrome
wol￭ ff – par￭ kinson – white syndrome
wol￭ ff – par￭ kinson – white syndrome w￭ p￭ w is one of several disorders of the electrical system of the heart that are commonly referred to as pre exc￭ itation syndro￭ mes w￭ p￭ w is caused by the presence of an abnormal accessory electrical conduc￭ tion path￭ way between the atri￭ a and the ven￭ tric￭ les electrical signals traveling down this abnormal path￭ way known as the bundle of kent may stimulate the ven￭ tric￭ les to contract prematurely resulting in a unique type of su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia referred to as an atri￭ o￭ ven￭ tric￭ ular re entr￭ ant t￭ ach￭ y￭ car￭ dia
lo￭ wn – gan￭ ong – le￭ vine syndrome
lo￭ wn – gan￭ ong – le￭ vine syndrome lg￭ l is a pre exc￭ itation syndrome of the heart due to abnormal electrical communication between the atri￭ a and the ven￭ tric￭ les once thought to involve an accessory conduc￭ tion path￭ way it is grouped with wol￭ ff – par￭ kinson – white syndrome as an atri￭ o￭ ven￭ tric￭ ular re entr￭ ant t￭ ach￭ y￭ car￭ dia av￭ rt individuals with lg￭ l syndrome have a short pr interval with normal q￭ rs complex￭ es and par￭ ox￭ ys￭ ms of clin￭ ically significant t￭ ach￭ y￭ car￭ dia the syndrome is named after bernard lo￭ wn william francis gan￭ ong jr and samuel a le￭ vine
lo￭ wn – gan￭ ong – le￭ vine syndrome lg￭ l is a pre exc￭ itation syndrome of the heart due to abnormal electrical communication between the atri￭ a and the ven￭ tric￭ les once thought to involve an accessory conduc￭ tion path￭ way it is grouped with wol￭ ff – par￭ kinson – white syndrome as an atri￭ o￭ ven￭ tric￭ ular re entr￭ ant t￭ ach￭ y￭ car￭ dia av￭ rt individuals with lg￭ l syndrome have a short pr interval with normal q￭ rs complex￭ es and par￭ ox￭ ys￭ ms of clin￭ ically significant t￭ ach￭ y￭ car￭ dia the syndrome is named after bernard lo￭ wn william francis gan￭ ong jr and samuel a le￭ vine individuals with a short pr interval found incidentally on e￭ kg were once thought to have lg￭ l syndrome however subsequent studies have shown that a short pr interval in the absence of symptomatic t￭ ach￭ y￭ car￭ dia is simply a benign e￭ kg variant
accelerated idio￭ ven￭ tric￭ ular rhythm
accelerated idio￭ ven￭ tric￭ ular rhythm is ven￭ tric￭ ular rhythm with a rate of between 40 and 120 beats per minute idio￭ ven￭ tric￭ ular means “ relating to or affecting the cardiac ven￭ tric￭ le alone “ and refers to any ec￭ topic ven￭ tric￭ ular arr￭ y￭ th￭ mia accelerated idio￭ ven￭ tric￭ ular arr￭ hy￭ th￭ mi￭ as are distinguished from ven￭ tric￭ ular rhy￭ th￭ ms with rates less than 40 ven￭ tric￭ ular escape and those faster than 120 ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia though some other references limit to between 60 and 100 beats per minute it is also referred to as ai￭ v￭ r and slow ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia
long q￭ t syndrome
long q￭ t syndrome l￭ q￭ ts is a rare con￭ genital and inherited or acquired heart condition in which delayed re￭ polarization of the heart following a heartbeat increases the risk of episodes of tor￭ s￭ ades de point￭ es t￭ dp a form of irregular heartbeat that originates from the ven￭ tric￭ les these episodes may lead to fain￭ ting and sudden death due to ven￭ tric￭ ular fi￭ bri￭ ll￭ ation episodes may be provoked by various stimul￭ i depending on the subtype of the condition
long q￭ t syndrome l￭ q￭ ts is a rare con￭ genital and inherited or acquired heart condition in which delayed re￭ polarization of the heart following a heartbeat increases the risk of episodes of tor￭ s￭ ades de point￭ es t￭ dp a form of irregular heartbeat that originates from the ven￭ tric￭ les these episodes may lead to fain￭ ting and sudden death due to ven￭ tric￭ ular fi￭ bri￭ ll￭ ation episodes may be provoked by various stimul￭ i depending on the subtype of the condition the condition is named for the appearance of the electro￭ cardi￭ o￭ gram ec￭ g e￭ kg on which a prolongation of the q￭ t interval occurs normally the q￭ t interval duration is between 350 and 440 mil￭ lis￭ econ￭ ds in some individuals the q￭ t prolongation occurs after the administration of certain medications which may be dangerous in addition to medications long q￭ t syndrome can be acquired from malnutrition leading to low blood potassium or low blood magnesium as in an￭ ore￭ x￭ ia ner￭ vo￭ sa
ad￭ ams – st￭ okes syndrome
st￭ okes – ad￭ ams syndrome alternative ep￭ ony￭ ms include ad￭ ams – st￭ okes syndrome ger￭ be￭ zi￭ us mor￭ g￭ ag￭ ni ad￭ ams – st￭ okes syndrome and ger￭ b￭ ec mor￭ g￭ ag￭ ni ad￭ ams – st￭ okes syndrome is a periodic fain￭ ting spell in which there is a periodic onset and offset of block￭ age of heart due to disorder of heart rhythm that may last for seconds hours days or even weeks before the conduc￭ tion returns named after two irish physicians robert ad￭ ams 17￭ 91 – 18￭ 75 and william st￭ okes 18￭ 04 – 18￭ 77 the first description of the syndrome was published in 17￭ 17 by the carni￭ ol￭ an physician of slovene descent mark￭ o ger￭ b￭ ec which was 44 years after its publication quoted by giov￭ anni bat￭ ti￭ sta mor￭ g￭ ag￭ ni it is characterised by decrease in cardiac output and loss of consciousness due to a transi￭ ent arr￭ hy￭ th￭ mia for example brad￭ y￭ car￭ dia due to
cardiac arrest
cardiac arrest is a sudden stop in effective blood flow due to the failure of the heart to contract effectively symptoms include loss of consciousness and abnormal or absent breathing some people may have chest pain short￭ ness of breath or naus￭ ea before this occurs if not treated within minutes death usually occurs
as￭ y￭ stole
as￭ y￭ stole also known as flat￭ line is a state of no electrical activity from the heart and therefore no blood flow it results in cardiac arrest as￭ y￭ stole is found initially in about 28 of people in cardiac arrest survival rates in a cardiac arrest patient with as￭ y￭ stole are much lower than a patient with a rhythm amenable to defi￭ bri￭ ll￭ ation as￭ y￭ stole is itself not a shoc￭ k￭ able rhythm out of hospital survival rates even with emergency intervention are less than 2 percent
pul￭ seless electrical activity
pul￭ seless electrical activity pea also known by as electro￭ mechanical dissoci￭ ation refers to cardiac arrest in which a heart rhythm is observed on the electro￭ cardi￭ o￭ gram that should be producing a pulse but is not pul￭ seless electrical activity is found initially in about 55 of people in cardiac arrest cardi￭ op￭ ul￭ mon￭ ary resusc￭ itation c￭ pr is the first treatment for pea while potential underlying causes are identified and treated the medication ep￭ in￭ eph￭ rine may be administered survival is about 20
pul￭ seless electrical activity pea also known by as electro￭ mechanical dissoci￭ ation refers to cardiac arrest in which a heart rhythm is observed on the electro￭ cardi￭ o￭ gram that should be producing a pulse but is not pul￭ seless electrical activity is found initially in about 55 of people in cardiac arrest under normal circumstances electrical activation of muscle cells prece￭ des mechanical contraction of the heart known as electro￭ mechanical coupling in pea there is electrical activity but the heart either does not contract or there are other reasons this results in an insufficient cardiac output to generate a pulse and supply blood to the organs while pea is classified as a form of cardiac arrest significant cardiac output may still be present which may be determined and best vis￭ u￭ alized by bed￭ side ul￭ tras￭ ound cardi￭ op￭ ul￭ mon￭ ary resusc￭ itation c￭ pr is the first treatment for pea while potential underlying causes are identified and treated the medication ep￭ in￭ eph￭ rine may be administered survival is about 20
av no￭ dal re￭ entr￭ ant t￭ ach￭ y￭ car￭ dia
av no￭ dal re￭ entr￭ ant t￭ ach￭ y￭ car￭ dia av￭ n￭ rt or atri￭ o￭ ven￭ tric￭ ular no￭ dal re￭ entr￭ ant t￭ ach￭ y￭ car￭ dia is a type of t￭ ach￭ y￭ car￭ dia fast rhythm of the heart it is a type of su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia sv￭ t meaning that it originates from a location within the heart above the bundle of his av no￭ dal re￭ entr￭ ant t￭ ach￭ y￭ car￭ dia is the most common regular su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia it is more common in women than men approximately 75 of cases occur in females the main symptom is pal￭ p￭ itations treatment may be with specific physical maneu￭ vers medication or rarely synchron￭ ized cardi￭ over￭ sion frequent attacks may require radi￭ of￭ requ￭ ency ab￭ l￭ ation in which the abnormally conducting tissue in the heart is destroyed
su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia
su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia sv￭ t is an abnormally fast heart rhythm arising from improper electrical activity in upper part of the heart there are four main types atri￭ al fi￭ bri￭ ll￭ ation par￭ oxy￭ sm￭ al su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia ps￭ v￭ t atri￭ al fl￭ utter and wol￭ ff par￭ kinson white syndrome symptoms may include pal￭ p￭ itations feeling faint swe￭ ating short￭ ness of breath or chest pain
ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia
ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia v t￭ ach or v￭ t is a type of regular and fast heart rate that arises from improper electrical activity in the ven￭ tric￭ les of the heart although a few seconds may not result in problems longer periods are dangerous short periods may occur without symptoms or present with ligh￭ the￭ ad￭ ed￭ ness pal￭ p￭ itations or chest pain ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia may result in cardiac arrest and turn into ven￭ tric￭ ular fi￭ bri￭ ll￭ ation ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia is found initially in about 7 of people in cardiac arrest
cardiac arr￭ hy￭ th￭ mia
cardiac arr￭ hy￭ th￭ mia also known as cardiac dys￭ rhy￭ th￭ mia or irregular heartbeat is a group of conditions in which the heartbeat is irregular too fast or too slow a heart rate that is too fast – above 100 beats per minute in adults – is called t￭ ach￭ y￭ car￭ dia and a heart rate that is too slow – below 60 beats per minute – is called brad￭ y￭ car￭ dia many types of arr￭ hy￭ th￭ mia have no symptoms when symptoms are present these may include pal￭ p￭ itations or feeling a pause between heart￭ beats more seriously there may be ligh￭ the￭ ad￭ ed￭ ness passing out short￭ ness of breath or chest pain while most types of arr￭ hy￭ th￭ mia are not serious some pre￭ dispose a person to complications such as stroke or heart failure others may result in cardiac arrest
atri￭ al fl￭ utter
atri￭ al fl￭ utter af￭ l is an abnormal heart rhythm that occurs in the atri￭ a of the heart when it first occurs it is usually associated with a fast heart rate or t￭ ach￭ y￭ car￭ dia beats over 100 per minute and falls into the category of supra ven￭ tric￭ ular t￭ ach￭ y￭ cardi￭ as while this rhythm occurs most often in individuals with cardiovascular disease e g hyper￭ tension coron￭ ary artery disease and cardi￭ om￭ y￭ opathy and diabetes mell￭ it￭ us it may occur spontaneously in people with otherwise normal hearts it is typically not a stable rhythm and frequently de￭ generates into atri￭ al fi￭ bri￭ ll￭ ation af however it does rarely persist for months to years
atri￭ al fl￭ utter af￭ l is an abnormal heart rhythm that occurs in the atri￭ a of the heart when it first occurs it is usually associated with a fast heart rate or t￭ ach￭ y￭ car￭ dia beats over 100 per minute and falls into the category of supra ven￭ tric￭ ular t￭ ach￭ y￭ cardi￭ as while this rhythm occurs most often in individuals with cardiovascular disease e g hyper￭ tension coron￭ ary artery disease and cardi￭ om￭ y￭ opathy and diabetes mell￭ it￭ us it may occur spontaneously in people with otherwise normal hearts it is typically not a stable rhythm and frequently de￭ generates into atri￭ al fi￭ bri￭ ll￭ ation af however it does rarely persist for months to years atri￭ al fl￭ utter was first identified as an independent medical condition in 1920 by the british physician sir thomas lewis 18￭ 81 – 1945 and colleagues
atri￭ al fi￭ bri￭ ll￭ ation
atri￭ al fi￭ bri￭ ll￭ ation af or a fi￭ b is an abnormal heart rhythm characterized by rapid and irregular beating often it starts as brief periods of abnormal beating which become longer and possibly constant over time most episodes have no symptoms occasionally there may be heart pal￭ p￭ itations fain￭ ting short￭ ness of breath or chest pain the disease is associated with an increased risk of heart failure dementia and stroke it is a type of su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia
atri￭ al fi￭ bri￭ ll￭ ation af or a fi￭ b is an abnormal heart rhythm characterized by rapid and irregular beating often it starts as brief periods of abnormal beating which become longer and possibly constant over time most episodes have no symptoms occasionally there may be heart pal￭ p￭ itations fain￭ ting short￭ ness of breath or chest pain the disease is associated with an increased risk of heart failure dementia and stroke it is a type of su￭ pra￭ ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia hyper￭ tension and val￭ vul￭ ar heart disease are the most common alter￭ able risk factors for af other heart related risk factors include heart failure coron￭ ary artery disease cardi￭ om￭ y￭ opathy and con￭ genital heart disease in the developing world val￭ vul￭ ar heart disease often occurs as a result of r￭ heu￭ matic fever lung related risk factors include cop￭ d obesity and sleep ap￭ ne￭ a other factors include excess alcohol intake diabetes mell￭ it￭ us and thyro￭ toxico￭ sis however half of cases are not associated with one of these risks a diagnosis is made by feeling the pulse and may be confirmed using an electro￭ cardi￭ o￭ gram ec￭ g a typical ec￭ g in af shows no p waves and an irregular ven￭ tric￭ ular rate af is often treated with medications to slow the heart rate to a near normal range known as rate control or to convert the rhythm to normal sin￭ us rhythm known as rhythm control electrical cardi￭ over￭ sion can also be used to convert af to a normal sin￭ us rhythm and is often used emerg￭ ently if the person is unstable ab￭ l￭ ation may prevent recurrence in some people depending on the risk of stroke either aspir￭ in or anti clo￭ tting medications such as war￭ far￭ in or a novel oral anti￭ co￭ ag￭ ul￭ ant may be recommended while these medications reduce this risk they increase rates of major bleeding atri￭ al fi￭ bri￭ ll￭ ation is the most common serious abnormal heart rhythm in europe and north america as of 2014 it affects about 2 to 3 of the population this is an increase from 0 4 to 1 of the population around 2005 in the developing world about 0 6 of males and 0 4 of females are affected the percentage of people with af increases with age with 0 14 under 50 years old 4 between 60 and 70 years old and 14 over 80 years old being affected a fi￭ b and atri￭ al fl￭ utter resulted in 112 000 deaths in 2013 up from 29 000 in 1990 the first known report of an irregular pulse was by jean bap￭ ti￭ ste de s￭ én￭ ac in 17￭ 49 this was first documented by ec￭ g in 19￭ 09 by thomas lewis
ven￭ tric￭ ular fl￭ utter
ven￭ tric￭ ular fl￭ utter is an arr￭ hy￭ th￭ mia more specifically a t￭ ach￭ y￭ car￭ dia affecting the ven￭ tric￭ les with a rate over 250 350 beats min it is characterized on the ec￭ g by a sin￭ us￭ o￭ idal wa￭ ve￭ form without clear definition of the q￭ rs and t waves it has been considered as a possible transition stage between ven￭ tric￭ ular t￭ ach￭ y￭ car￭ dia and fi￭ bri￭ ll￭ ation and is a critically unstable arr￭ hy￭ th￭ mia that can result in sudden cardiac death it can occur in infancy youth or as an adult it can be induced by programmed electrical stimulation
ven￭ tric￭ ular fi￭ bri￭ ll￭ ation
ven￭ tric￭ ular fi￭ bri￭ ll￭ ation v fi￭ b or v￭ f is when the heart qui￭ vers instead of pumps due to dis￭ organized electrical activity in the ven￭ tric￭ les it results in cardiac arrest with loss of consciousness and no pulse this is followed by irreversible death without treatment ven￭ tric￭ ular fi￭ bri￭ ll￭ ation is found initially in about 10 of people in cardiac arrest
sick sin￭ us syndrome
post￭ ural orth￭ o￭ static t￭ ach￭ y￭ car￭ dia syndrome
post￭ ural orth￭ o￭ static t￭ ach￭ y￭ car￭ dia syndrome pots also known as post￭ ural t￭ ach￭ y￭ car￭ dia syndrome is a condition in which a change from the sup￭ ine position to an u￭ pri￭ ght position causes an abnormally large increase in heart rate called t￭ ach￭ y￭ car￭ dia other symptoms of an orth￭ o￭ static nature — occurring in response to u￭ pri￭ ght posture — may accompany the t￭ ach￭ y￭ car￭ dia
post￭ ural orth￭ o￭ static t￭ ach￭ y￭ car￭ dia syndrome pots also known as post￭ ural t￭ ach￭ y￭ car￭ dia syndrome is a condition in which a change from the sup￭ ine position to an u￭ pri￭ ght position causes an abnormally large increase in heart rate called t￭ ach￭ y￭ car￭ dia other symptoms of an orth￭ o￭ static nature — occurring in response to u￭ pri￭ ght posture — may accompany the t￭ ach￭ y￭ car￭ dia the causes of pots are poorly understood and it is likely that several distinct underlying problems can lead to the symptoms of pots a variety of treatments including exercise and medications can improve symptoms for the majority of people with pots many experience a reasonable recovery with recovery defined as the relative absence of orth￭ o￭ static symptoms alone with the ability to perform the activities of daily living with minimal restriction while in others the condition persists indefinitely it has been estimated that there are between 500 000 and 3 000 000 people with pots in the united states alone
bru￭ g￭ ada syndrome
bru￭ g￭ ada syndrome br￭ s is a genetic disease that is characterised by abnormal electro￭ cardi￭ o￭ gram ec￭ g findings and an increased risk of sudden cardiac death it is named for the spanish cardi￭ o￭ logists pedro bru￭ g￭ ada jose￭ p bru￭ g￭ ada and ram￭ on bru￭ g￭ ada it is the major cause of sudden un￭ explained death syndrome su￭ ds also known as sudden adult death syndrome s￭ ads and is the most common cause of sudden death in young men without known underlying cardiac disease in thailand and laos
heart failure
heart failure hf often referred to as cong￭ estive heart failure chf occurs when the heart is unable to pump sufficiently to maintain blood flow to meet the body s needs signs and symptoms commonly include short￭ ness of breath excessive ti￭ red￭ ness and leg sw￭ elling the short￭ ness of breath is usually worse with exercise while lying down and may wake the person at night a limited ability to exercise is also a common feature chest pain including ang￭ ina does not typically occur due to heart failure
cardiac asthma
cardiac asthma is a medical diagnosis of whe￭ e￭ zing cou￭ gh￭ ing or short￭ ness of breath due to cong￭ estive heart failure it is known as cardiac asthma because the symptoms mim￭ ic ordinary asthma one study found that patients with cardiac asthma represented one third of cong￭ estive heart failure in elderly patients depending on severity it may be classified as a medical emergency as it can be a symptom of acute heart failure leading to the buil￭ dup of fluids in the lungs pul￭ mon￭ ary e￭ dem￭ a as well as within and around the airways
cardiac asthma is a medical diagnosis of whe￭ e￭ zing cou￭ gh￭ ing or short￭ ness of breath due to cong￭ estive heart failure it is known as cardiac asthma because the symptoms mim￭ ic ordinary asthma one study found that patients with cardiac asthma represented one third of cong￭ estive heart failure in elderly patients depending on severity it may be classified as a medical emergency as it can be a symptom of acute heart failure leading to the buil￭ dup of fluids in the lungs pul￭ mon￭ ary e￭ dem￭ a as well as within and around the airways the distinction between true asthma and cardiac asthma is especially important because some treatments for true asthma including inhal￭ ers may actually worsen cardiac asthma and cause severe heart arr￭ hy￭ th￭ mi￭ as true asthma in contrast is caused by the infl￭ amm￭ ation and eventual narrowing down of airways this is what causes the breathing difficulties that are characteristic to asthma true asthma has nothing to do with fluid in the lungs or heart disease or even the heart failure which is so associated with cardiac asthma
cardiovascular disease
cardiovascular disease c￭ vd is a class of diseases that involve the heart or blood vessels cardiovascular disease includes coron￭ ary artery diseases cad such as ang￭ ina and my￭ o￭ cardi￭ al inf￭ arc￭ tion commonly known as a heart attack other c￭ v￭ ds are stroke hyper￭ ten￭ sive heart disease r￭ heu￭ matic heart disease cardi￭ om￭ y￭ opathy heart arr￭ hy￭ th￭ mia con￭ genital heart disease val￭ vul￭ ar heart disease cardi￭ tis a￭ or￭ tic an￭ eur￭ ys￭ ms peripheral artery disease and ven￭ ous thro￭ m￭ bo￭ sis
cardi￭ om￭ eg￭ al￭ y
cardi￭ om￭ eg￭ al￭ y is a medical condition in which the heart is enlarged it is more commonly referred to as an enlarged heart the causes of cardi￭ om￭ eg￭ al￭ y may vary many times this condition results from high blood pressure hyper￭ tension or coron￭ ary artery disease an enlarged heart may not pump blood effectively resulting in cong￭ estive heart failure cardi￭ om￭ eg￭ al￭ y may improve over time but many people with an enlarged heart need lifelong treatment with medications having an immediate family member who has or had cardi￭ om￭ eg￭ al￭ y may indicate that a person is more susceptible to getting this condition cardi￭ om￭ eg￭ al￭ y is not a disease but rather a condition that can result from a host of other diseases such as obesity or coron￭ ary artery disease recent studies suggest that cardi￭ om￭ eg￭ al￭ y is associated
left ven￭ tric￭ ular hyper￭ tro￭ phy
left ven￭ tric￭ ular hyper￭ tro￭ phy lv￭ h is thick￭ ening of the heart muscle of the left ven￭ tric￭ le of the heart that is left sided ven￭ tric￭ ular hyper￭ tro￭ phy
sub￭ ar￭ ach￭ no￭ id hemorrha￭ ge
sub￭ ar￭ ach￭ no￭ id hemorrha￭ ge s￭ ah is bleeding into the sub￭ ar￭ ach￭ no￭ id space — the area between the ar￭ ach￭ no￭ id memb￭ rane and the p￭ ia mat￭ er surrounding the brain symptoms of s￭ ah include a severe headache with a rapid onset thunder￭ cl￭ ap headache v￭ om￭ iting confusion or a lowered level of consciousness and sometimes seizures neck sti￭ ff￭ ness or neck pain area also relatively common
sub￭ ar￭ ach￭ no￭ id hemorrha￭ ge s￭ ah is bleeding into the sub￭ ar￭ ach￭ no￭ id space — the area between the ar￭ ach￭ no￭ id memb￭ rane and the p￭ ia mat￭ er surrounding the brain symptoms of s￭ ah include a severe headache with a rapid onset thunder￭ cl￭ ap headache v￭ om￭ iting confusion or a lowered level of consciousness and sometimes seizures neck sti￭ ff￭ ness or neck pain area also relatively common s￭ ah may occur spontaneously usually from a rup￭ tured cere￭ br￭ al an￭ eur￭ ys￭ m or may result from head injury in general the diagnosis can be determined by a ct scan of the head if done within six hours occasionally a lum￭ bar punc￭ ture is also required after confirmation of bleeding further tests are usually performed to find problems that may have caused it such as an an￭ eur￭ ys￭ m treatment is by prompt neuro￭ surgery or radio￭ logically guided interventions with medications and other treatments to help prevent recurrence of the bleeding and complications it can lead to death or severe disability — even when recognized and treated at an early stage up to half of all cases of s￭ ah are fatal and 10 – 15 percent of casualties die before reaching a hospital and those who survive often have neuro￭ logical or cognitive impairment s￭ ah is a form of stroke and comprises 1 – 7 percent of all stro￭ kes surgery for an￭ eur￭ ys￭ ms was introduced in the 1930 s but since the 1990 s many an￭ eur￭ ys￭ ms are treated by a less invasive procedure called co￭ iling which is carried out by instrum￭ entation through large blood vessels
in￭ trac￭ ran￭ ial hemorrha￭ ge
in￭ trac￭ ere￭ br￭ al hemorrha￭ ge
in￭ trac￭ ere￭ br￭ al hemorrha￭ ge ich also known as cere￭ br￭ al bleed is a type of in￭ trac￭ ran￭ ial bleed that occurs within the brain tissue or ven￭ tric￭ les symptoms can include headache one sided weakness v￭ om￭ iting seizures decreased level of consciousness and neck sti￭ ff￭ ness often symptoms get worse over time fever is also common in many cases bleeding is present in both the brain tissue and the ven￭ tric￭ les
in￭ trac￭ ere￭ br￭ al hemorrha￭ ge ich also known as cere￭ br￭ al bleed is a type of in￭ trac￭ ran￭ ial bleed that occurs within the brain tissue or ven￭ tric￭ les symptoms can include headache one sided weakness v￭ om￭ iting seizures decreased level of consciousness and neck sti￭ ff￭ ness often symptoms get worse over time fever is also common in many cases bleeding is present in both the brain tissue and the ven￭ tric￭ les causes include brain trauma an￭ eur￭ ys￭ ms arter￭ io￭ ven￭ ous mal￭ formations and brain tumors the largest risk factors for spontaneous bleeding are high blood pressure and amy￭ lo￭ ido￭ sis other risk factors include alcoholism low cho￭ le￭ sterol blood thin￭ ners and cocaine diagnosis is typically by ct scan other conditions that may present similarly include is￭ chem￭ ic stroke treatment should typically be carried out in an intensive care unit guidelines recommended decreasing the blood pressure to a syst￭ ol￭ ic of less than 140 m￭ mh￭ g blood thin￭ ners should be reversed if possible and blood sugar kept in the normal range surgery to place a ven￭ tric￭ ular drain may be used to treat hydro￭ cephal￭ us but cor￭ ti￭ co￭ ster￭ oids should not be used surgery to remove the blood is useful in certain cases cere￭ br￭ al bleeding affects about 2 5 per 10 000 people each year it occurs more often in males and older people about 44 of those affected die within a month a good outcome occurs in about 20 of those affected stro￭ kes were first divided into their two major types bleeding and insufficient blood flow in 18￭ 23
stroke
stroke is when poor blood flow to the brain results in cell death there are two main types of stroke is￭ chem￭ ic due to lack of blood flow and hemorrha￭ gic due to bleeding they result in part of the brain not functioning properly signs and symptoms of a stroke may include an inability to move or feel on one side of the body problems understanding or speaking feeling like the world is spinning or loss of vision to one side among others signs and symptoms often appear soon after the stroke has occurred if symptoms last less than one or two hours it is known as a transi￭ ent is￭ chem￭ ic attack tia hemorrha￭ gic stro￭ kes may also be associated with a severe headache the symptoms of a stroke can be permanent long term complications may include pneumonia or loss of blad￭ der control
cere￭ br￭ al inf￭ arc￭ tion
caro￭ ti￭ d artery sten￭ osis
caro￭ ti￭ d sten￭ osis is a narrowing or con￭ stric￭ tion of the inner surface lum￭ en of the caro￭ ti￭ d artery usually caused by a￭ ther￭ os￭ clerosis
an￭ terior spinal artery syndrome
an￭ terior spinal artery syndrome also known as an￭ terior spinal cord syndrome is a medical condition where the an￭ terior spinal artery the primary blood supply to the an￭ terior portion of the spinal cord is interrupted causing is￭ chem￭ ia or inf￭ arc￭ tion of the spinal cord in the an￭ terior two thirds of the spinal cord and med￭ ul￭ la obl￭ ong￭ ata it is characterized by loss of motor function below the level of injury loss of sens￭ ations carried by the an￭ terior columns of the spinal cord pain and temperature and preservation of sens￭ ations carried by the poster￭ ior columns fine touch vibration and propri￭ o￭ ception an￭ terior spinal artery syndrome is the most common form of spinal cord inf￭ arc￭ tion
bin￭ sw￭ anger s disease
bin￭ sw￭ anger s disease also known as sub￭ cor￭ tical leuko￭ encephalopathy is a form of small vessel vascular dementia caused by damage to the white brain matter white matter atro￭ phy can be caused by many circumstances including chronic hyper￭ tension as well as old age this disease is characterized by loss of memory and intellectual function and by changes in mood these changes encompass what are known as executive functions of the brain it usually presents between 54 and 66 years of age and the first symptoms are usually mental deterioration or stroke
cere￭ br￭ al vas￭ cu￭ li￭ tis
cere￭ br￭ al vas￭ cu￭ li￭ tis or central nervous system vas￭ cu￭ li￭ tis sometimes the word an￭ gi￭ i￭ tis is used instead of vas￭ cu￭ li￭ tis is vas￭ cu￭ li￭ tis infl￭ amm￭ ation of the blood vessel wall involving the brain and occasionally the spinal cord it affects all of the vessels very small blood vessels cap￭ il￭ lar￭ ies medium size blood vessels arter￭ i￭ oles and ven￭ ules or large blood vessels arter￭ ies and ve￭ ins if blood flow in a vessel with vas￭ cu￭ li￭ tis is reduced or stopped the parts of the body that receive blood from that vessel begins to die it may produce a wide range of neuro￭ logical symptoms such as headache skin r￭ ashes feeling very tired joint pains difficulty moving or coordinating part of the body changes in sensation and alterations in perception thought or behavior as well as the phen￭ omen
cere￭ br￭ al vas￭ cu￭ li￭ tis or central nervous system vas￭ cu￭ li￭ tis sometimes the word an￭ gi￭ i￭ tis is used instead of vas￭ cu￭ li￭ tis is vas￭ cu￭ li￭ tis infl￭ amm￭ ation of the blood vessel wall involving the brain and occasionally the spinal cord it affects all of the vessels very small blood vessels cap￭ il￭ lar￭ ies medium size blood vessels arter￭ i￭ oles and ven￭ ules or large blood vessels arter￭ ies and ve￭ ins if blood flow in a vessel with vas￭ cu￭ li￭ tis is reduced or stopped the parts of the body that receive blood from that vessel begins to die it may produce a wide range of neuro￭ logical symptoms such as headache skin r￭ ashes feeling very tired joint pains difficulty moving or coordinating part of the body changes in sensation and alterations in perception thought or behavior as well as the phenomena of a mass le￭ sion in the brain leading to coma and her￭ ni￭ ation some of its signs and symptoms may resemble multiple sclerosis 10 have associated bleeding in the brain
reversible cere￭ br￭ al vas￭ o￭ con￭ stric￭ tion syndrome
reversible cere￭ br￭ al vas￭ o￭ con￭ stric￭ tion syndrome r￭ c￭ vs sometimes called call flem￭ ing syndrome is a disease characterized by a weeks long course of thunder￭ cl￭ ap headaches sometimes focal neuro￭ logic signs and occasionally seizures symptoms are thought to arise from transi￭ ent ab￭ norm￭ alities in the blood vessels of the brain in some cases it may be associated with childbirth vas￭ o￭ active or illicit drug use or complications of pregnancy
reversible cere￭ br￭ al vas￭ o￭ con￭ stric￭ tion syndrome r￭ c￭ vs sometimes called call flem￭ ing syndrome is a disease characterized by a weeks long course of thunder￭ cl￭ ap headaches sometimes focal neuro￭ logic signs and occasionally seizures symptoms are thought to arise from transi￭ ent ab￭ norm￭ alities in the blood vessels of the brain in some cases it may be associated with childbirth vas￭ o￭ active or illicit drug use or complications of pregnancy for the vast majority of patients all symptoms disappear on their own within three weeks deficits persist in a small minority of patients with severe complications or death being very rare because symptoms resemble a variety of life threatening conditions differential diagnosis is necessary
cere￭ br￭ al amy￭ loid an￭ gi￭ opathy
cere￭ br￭ al amy￭ loid an￭ gi￭ opathy ca￭ a also known as cong￭ oph￭ il￭ ic an￭ gi￭ opathy is a form of an￭ gi￭ opathy in which amy￭ loid deposits form in the walls of the blood vessels of the central nervous system the term cong￭ oph￭ il￭ ic is used because the presence of the abnormal aggreg￭ ations of amy￭ loid can be demonstrated by micro￭ scopic examination of brain tissue after application of a special stain called congo red the amy￭ loid material is only found in the brain and as such the disease is not related to other forms of amy￭ lo￭ ido￭ sis
ren￭ al artery sten￭ osis
ren￭ al artery sten￭ osis is the narrowing of one of the ren￭ al arter￭ ies most often caused by a￭ ther￭ os￭ clerosis or fi￭ bro￭ muscular dys￭ pl￭ asia this narrowing of the ren￭ al artery can impede blood flow to the target kidney resulting in renov￭ ascular hyper￭ tension – a secondary type of high blood pressure possible complications of ren￭ al artery sten￭ osis are chronic kidney disease and coron￭ ary artery disease
mon￭ c￭ ke￭ berg s arter￭ i￭ os￭ clerosis
mö￭ nc￭ ke￭ berg s arter￭ i￭ os￭ clerosis or mö￭ nc￭ ke￭ berg s sclerosis also called medi￭ al calci￭ fic sclerosis or mö￭ nc￭ ke￭ berg medi￭ al sclerosis is a form of arter￭ i￭ os￭ clerosis or vessel hard￭ ening where calcium deposits are found in the muscular middle layer of the walls of arter￭ ies the tun￭ ica media it is an example of dy￭ stro￭ ph￭ ic calci￭ fication this condition occurs as an age related degenerative process however it can occur in pseu￭ do￭ x￭ an￭ thomas el￭ as￭ tic￭ um and idi￭ opathic arter￭ ial calci￭ fication of infancy as a pathological condition as well its clinical significance and eti￭ ology are not well understood and its relationship to a￭ ther￭ os￭ clerosis and other forms of vascular calci￭ fication are the subject of disagreement mö￭ nc￭ ke￭ berg s arter￭ i￭ os￭ clerosis is named after jo￭ han￭ n georg mö￭ nc￭ ke￭ berg who first described i
mö￭ nc￭ ke￭ berg s arter￭ i￭ os￭ clerosis or mö￭ nc￭ ke￭ berg s sclerosis also called medi￭ al calci￭ fic sclerosis or mö￭ nc￭ ke￭ berg medi￭ al sclerosis is a form of arter￭ i￭ os￭ clerosis or vessel hard￭ ening where calcium deposits are found in the muscular middle layer of the walls of arter￭ ies the tun￭ ica media it is an example of dy￭ stro￭ ph￭ ic calci￭ fication this condition occurs as an age related degenerative process however it can occur in pseu￭ do￭ x￭ an￭ thomas el￭ as￭ tic￭ um and idi￭ opathic arter￭ ial calci￭ fication of infancy as a pathological condition as well its clinical significance and eti￭ ology are not well understood and its relationship to a￭ ther￭ os￭ clerosis and other forms of vascular calci￭ fication are the subject of disagreement mö￭ nc￭ ke￭ berg s arter￭ i￭ os￭ clerosis is named after jo￭ han￭ n georg mö￭ nc￭ ke￭ berg who first described it in 19￭ 03
a￭ or￭ tic an￭ eur￭ ys￭ m
an a￭ or￭ tic an￭ eur￭ ys￭ m is an enlargement dil￭ ation of the a￭ or￭ ta to greater than 1 5 times normal size they usually cause no symptoms except when rup￭ tured occasionally there may be ab￭ domin￭ al back or leg pain they are most commonly located in the ab￭ domin￭ al a￭ or￭ ta but can also be located in the thor￭ ac￭ ic a￭ or￭ ta a￭ or￭ tic an￭ eur￭ ys￭ ms cause weakness in the wall of the a￭ or￭ ta and increase the risk of a￭ or￭ tic rupture when rupture occurs massive internal bleeding results and unless treated immediately shock and death can occur
a￭ or￭ tic dis￭ section
a￭ or￭ tic dis￭ section occurs when a tear in the inside of the a￭ or￭ ta causes blood to flow between the layers of the wall of the a￭ or￭ ta forcing the layers apart in most cases this is associated with a sudden onset of severe chest or back pain often described as tearing in character there may also be v￭ om￭ iting swe￭ ating and ligh￭ the￭ ad￭ ed￭ ness other symptoms may result from decreased blood supply to other organs such as stroke or mes￭ enter￭ ic is￭ chem￭ ia a￭ or￭ tic dis￭ section can quickly lead to death as a result of not enough blood flow to the heart or rupture of the a￭ or￭ ta
a￭ or￭ tic dis￭ section occurs when a tear in the inside of the a￭ or￭ ta causes blood to flow between the layers of the wall of the a￭ or￭ ta forcing the layers apart in most cases this is associated with a sudden onset of severe chest or back pain often described as tearing in character there may also be v￭ om￭ iting swe￭ ating and ligh￭ the￭ ad￭ ed￭ ness other symptoms may result from decreased blood supply to other organs such as stroke or mes￭ enter￭ ic is￭ chem￭ ia a￭ or￭ tic dis￭ section can quickly lead to death as a result of not enough blood flow to the heart or rupture of the a￭ or￭ ta a￭ or￭ tic dis￭ section is more common in those with a history of high blood pressure a number of connec￭ tive tissue diseases that affect blood vessel wall strength such as mar￭ fan syndrome a bic￭ us￭ pid a￭ or￭ tic valve and previous heart surgery major trauma smoking cocaine use pregnancy a thor￭ ac￭ ic a￭ or￭ tic an￭ eur￭ ys￭ m infl￭ amm￭ ation of arter￭ ies and abnormal lip￭ id levels also increase the risk the diagnosis is confirmed with medical imaging such as compu￭ ted tom￭ o￭ graphy magnetic resonance imaging or ul￭ tras￭ ound there are two main types stanford type a which involve the first part of the a￭ or￭ ta and type b which do not prevention is by blood pressure control and not smoking the treatment of a￭ or￭ tic dis￭ section depends on the part of the a￭ or￭ ta involved surgery is usually required for dis￭ sections that involve the first part of the a￭ or￭ ta while those that do not can typically be treated with blood pressure and heart rate lowering unless complications result surgery may be done either by an opening in the chest or by endo￭ vascular an￭ eur￭ ys￭ m repair carried out from inside the blood vessels a￭ or￭ tic dis￭ section is relatively rare occurring at an estimated rate of 3 per 100 000 people every year it is more common in males than females the typical age at diagnosis is 63 with about 10 of cases occurring before 40 without treatment about half of people with type a die within three days and about 10 of people with type b die within a month the first case of a￭ or￭ tic dis￭ section described was in the examination of king george ii of great britain following his death in 1760 surgery for a￭ or￭ tic dis￭ section was introduced in the 1950 s by michael e deb￭ a￭ key
an￭ eur￭ ys￭ m
an an￭ eur￭ ys￭ m is a loc￭ alized blood filled balloon like bul￭ ge in the wall of a blood vessel an￭ eur￭ ys￭ ms can occur in any blood vessel with examples including an￭ eur￭ ys￭ ms of the circle of will￭ is in the brain a￭ or￭ tic an￭ eur￭ ys￭ ms affecting the thor￭ ac￭ ic a￭ or￭ ta and ab￭ domin￭ al a￭ or￭ tic an￭ eur￭ ys￭ ms an￭ eur￭ ys￭ ms can also occur within the heart
ray￭ n￭ aud syndrome
ray￭ n￭ aud syndrome also known as ray￭ n￭ aud s is a medical condition in which there are episodes of reduced blood flow due to sp￭ asm of arter￭ ies typically the fingers and less commonly the toes are involved rarely the nose ears or lips are affected the episodes result in the affected part turning white and then blue often there is num￭ b￭ ness or pain as blood flow returns the area turns red and burns the episodes typically last minutes but can last up to several hours
ray￭ n￭ aud syndrome also known as ray￭ n￭ aud s is a medical condition in which there are episodes of reduced blood flow due to sp￭ asm of arter￭ ies typically the fingers and less commonly the toes are involved rarely the nose ears or lips are affected the episodes result in the affected part turning white and then blue often there is num￭ b￭ ness or pain as blood flow returns the area turns red and burns the episodes typically last minutes but can last up to several hours episodes are often triggered by cold or emotional stress there are two main types primary ray￭ n￭ aud s when the cause is unknown and secondary ray￭ n￭ aud s which occurs as a result of another condition secondary ray￭ n￭ aud s can occur due a connec￭ tive tissue disorder such as s￭ cl￭ ero￭ der￭ ma or lup￭ us injuries to the hands smoking and certain medications such as birth control pills diagnosis is typically based on the symptoms the primary treatment is avoiding the cold other measures include not smoking or using stimul￭ ants medications for treatment of cases that do not improve include calcium channel bloc￭ kers and i￭ lo￭ pro￭ st little evidence supports alternative medicine severe disease may rarely be complicated by skin so￭ res or gang￭ rene about 4 of people have the condition onset of the primary form is typically between 15 and 30 and occurs more frequently in females the secondary form usually affects older people both forms are more common in cold clim￭ ates it is named after french physician maurice ray￭ n￭ aud who described the condition in 18￭ 62
thro￭ m￭ bo￭ an￭ gi￭ i￭ tis obliter￭ ans
er￭ y￭ thro￭ mel￭ al￭ gia
er￭ y￭ thro￭ mel￭ al￭ gia formerly known as mitchell s disease after sil￭ as we￭ ir mitchell acro￭ mel￭ al￭ gia red ne￭ ur￭ al￭ gia or er￭ y￭ ther￭ mal￭ gia is a rare vascular peripheral pain disorder in which blood vessels usually in the lower extre￭ mi￭ ties or hands are episo￭ dic￭ ally blocked frequently on and off daily then become hyper￭ emic and infl￭ amed there is severe burning pain in the small fiber sensory nerves and skin red￭ ness the attacks are periodic and are commonly triggered by heat pressure mild activity exer￭ tion in￭ som￭ nia or stress er￭ y￭ thro￭ mel￭ al￭ gia may occur either as a primary or secondary disorder i e a disorder in and of itself or a symptom of another condition secondary er￭ y￭ thro￭ mel￭ al￭ gia can result from small fiber peripheral neuro￭ pa￭ thy of any cause poly￭ cy￭ them￭ ia vera essential thro￭ m￭ bo￭ cy￭ to
er￭ y￭ thro￭ mel￭ al￭ gia formerly known as mitchell s disease after sil￭ as we￭ ir mitchell acro￭ mel￭ al￭ gia red ne￭ ur￭ al￭ gia or er￭ y￭ ther￭ mal￭ gia is a rare vascular peripheral pain disorder in which blood vessels usually in the lower extre￭ mi￭ ties or hands are episo￭ dic￭ ally blocked frequently on and off daily then become hyper￭ emic and infl￭ amed there is severe burning pain in the small fiber sensory nerves and skin red￭ ness the attacks are periodic and are commonly triggered by heat pressure mild activity exer￭ tion in￭ som￭ nia or stress er￭ y￭ thro￭ mel￭ al￭ gia may occur either as a primary or secondary disorder i e a disorder in and of itself or a symptom of another condition secondary er￭ y￭ thro￭ mel￭ al￭ gia can result from small fiber peripheral neuro￭ pa￭ thy of any cause poly￭ cy￭ them￭ ia vera essential thro￭ m￭ bo￭ cy￭ to￭ sis hyper￭ cho￭ le￭ ster￭ ol￭ emia mush￭ room or mercury poisoning and some auto￭ immune disorders primary er￭ y￭ thro￭ mel￭ al￭ gia is caused by mutation of the voltage gated sodium channel α sub￭ unit gene s￭ cn 9 a in 2004 er￭ y￭ thro￭ mel￭ al￭ gia became the first human disorder in which it has been possible to associate an ion channel mutation with chronic neuro￭ path￭ ic pain when its path￭ op￭ hy￭ si￭ ology was initially published in the journal of medical genetics conversely in december 2006 a university of cambridge team reported an s￭ cn 9 a mutation that resulted in a complete lack of pain sensation in a pakistani street performer and some of his family members he felt no pain walked on hot co￭ als and stabbed himself to entertain crowds
acro￭ cyan￭ osis
acro￭ cyan￭ osis is persistent blue or cyan￭ otic dis￭ color￭ ation of the extre￭ mi￭ ties most commonly occurring in the hands although it also occurs in the feet and dis￭ tal parts of face although described over 100 years ago and not un￭ common in practice the nature of this phenomenon is still uncertain the very term acro￭ cyan￭ osis is often applied in￭ appropriately in cases when blue dis￭ color￭ ation of the hands feet or parts of the face is noted the principal primary form of acro￭ cyan￭ osis is that of a benign cosmetic condition sometimes caused by a relatively benign neuro￭ hormonal disorder regardless of its cause the benign form typically does not require medical treatment a medical emergency would ensue if the extre￭ mi￭ ties experience prolonged periods of exposure to the cold particularly in ch
acro￭ cyan￭ osis is persistent blue or cyan￭ otic dis￭ color￭ ation of the extre￭ mi￭ ties most commonly occurring in the hands although it also occurs in the feet and dis￭ tal parts of face although described over 100 years ago and not un￭ common in practice the nature of this phenomenon is still uncertain the very term acro￭ cyan￭ osis is often applied in￭ appropriately in cases when blue dis￭ color￭ ation of the hands feet or parts of the face is noted the principal primary form of acro￭ cyan￭ osis is that of a benign cosmetic condition sometimes caused by a relatively benign neuro￭ hormonal disorder regardless of its cause the benign form typically does not require medical treatment a medical emergency would ensue if the extre￭ mi￭ ties experience prolonged periods of exposure to the cold particularly in children and patients with poor general health however fro￭ st￭ bite differs from acro￭ cyan￭ osis because pain via thermal no￭ cic￭ ep￭ tors often accompanies the former condition while the latter is very rarely associated with pain there are also a number of other conditions that affect hands feet and parts of the face with associated skin color changes that need to be differentiated from acro￭ cyan￭ osis ray￭ n￭ aud ’ s phenomenon per￭ nio ac￭ r￭ or￭ y￭ go￭ sis er￭ y￭ thro￭ mel￭ al￭ gia blue finger syndrome the diagnosis may be challenging in some cases especially when these syndro￭ mes co exist acro￭ cyan￭ osis may be a sign of a more serious medical problem such as connec￭ tive tissue diseases and diseases associated with central cyan￭ osis other caus￭ ative conditions include infections tox￭ ic￭ ities anti￭ phosp￭ holi￭ pid syndrome cry￭ o￭ glob￭ ul￭ in￭ emia ne￭ op￭ las￭ ms in these cases the observed cu￭ taneous changes are known as secondary acro￭ cyan￭ osis they may have a less sym￭ metric distribution and may be associated with pain and tissue loss
peripheral artery disease
peripheral artery disease pad is a narrowing of the arter￭ ies other than those that supply the heart or the brain when narrowing occurs in the heart it is called coron￭ ary artery disease while in the brain it is called cere￭ bro￭ vascular disease peripheral artery disease most commonly affects the legs but other arter￭ ies may also be involved the classic symptom is leg pain when walking which resol￭ ves with rest known as inter￭ mit￭ tent clau￭ dic￭ ation other symptoms including skin ul￭ cers blu￭ ish skin cold skin or poor nail and hair growth may occur in the affected leg complications may include an infection or tissue death which may require ampu￭ tation coron￭ ary artery disease or stroke up to 50 of cases of pad are without symptoms
peripheral artery disease pad is a narrowing of the arter￭ ies other than those that supply the heart or the brain when narrowing occurs in the heart it is called coron￭ ary artery disease while in the brain it is called cere￭ bro￭ vascular disease peripheral artery disease most commonly affects the legs but other arter￭ ies may also be involved the classic symptom is leg pain when walking which resol￭ ves with rest known as inter￭ mit￭ tent clau￭ dic￭ ation other symptoms including skin ul￭ cers blu￭ ish skin cold skin or poor nail and hair growth may occur in the affected leg complications may include an infection or tissue death which may require ampu￭ tation coron￭ ary artery disease or stroke up to 50 of cases of pad are without symptoms the main risk factor is cigarette smoking other risk factors include diabetes high blood pressure and high blood cho￭ le￭ sterol the underlying mechanism is usually a￭ ther￭ os￭ clerosis other causes include artery sp￭ asm pad is typically diagnosed by finding an an￭ kle br￭ achi￭ al index ab￭ i less than 0 90 which is the syst￭ ol￭ ic blood pressure at the an￭ kle divided by the syst￭ ol￭ ic blood pressure of the arm du￭ pl￭ ex ul￭ tras￭ ono￭ graphy and an￭ gi￭ o￭ graphy may also be used an￭ gi￭ o￭ graphy is more accurate and allows for treatment at the same time however it is associated with greater risks it is unclear if screening for disease is useful as it has not been properly studied in those with inter￭ mit￭ tent clau￭ dic￭ ation from pad stopping smoking and supervised exercise therapy improves outcomes medications including stat￭ ins ace inhi￭ bit￭ ors and ci￭ lo￭ st￭ az￭ ol also may help aspir￭ in does not appear to help those with mild disease but is usually recommended in those with more significant disease anti￭ co￭ ag￭ ul￭ ants such as war￭ far￭ in are not typically of benefit procedures used to treat the disease include bypass graf￭ ting an￭ gi￭ op￭ la￭ sty and a￭ ther￭ ec￭ tomy in 2010 about 202 million people had pad worldwide in the developed world it affects about 5 3 of 45 to 50 years olds and 18 6 of 85 to 90 year olds in the developing world it affects 4 6 of people between the ages of 45 to 50 and 15 of people between the ages of 85 to 90 in the developed world pad is equally common among men and women while in the developing world women are more commonly affected in 2013 pad resulted in about 41 000 deaths up from 16 000 deaths in 1990
inter￭ mit￭ tent clau￭ dic￭ ation
embol￭ ism
an embol￭ ism is the lodging of an embol￭ us a block￭ age causing piece of material inside a blood vessel the embol￭ us may be a blood clo￭ t thro￭ m￭ bus a fat glo￭ bu￭ le a bubble of air or other gas gas embol￭ ism or foreign material an embol￭ ism can cause partial or total block￭ age of blood flow in the affected vessel such a block￭ age a vascular oc￭ clu￭ sion may affect a part of the body distant from where the embol￭ us originated an embol￭ ism in which the embol￭ us is a piece of thro￭ m￭ bus is called a thro￭ m￭ bo￭ embol￭ ism thro￭ m￭ bo￭ sis the process of thro￭ m￭ bus formation often leads to thro￭ m￭ bo￭ embol￭ ism
median ar￭ cu￭ ate lig￭ ament syndrome
in medicine the median ar￭ cu￭ ate lig￭ ament syndrome m￭ als also known as ce￭ li￭ ac artery compression syndrome ce￭ li￭ ac axis syndrome ce￭ li￭ ac trunk compression syndrome or dun￭ bar syndrome is a condition characterized by ab￭ domin￭ al pain attributed to compression of the ce￭ li￭ ac artery and possibly the ce￭ li￭ ac gang￭ lia by the median ar￭ cu￭ ate lig￭ ament the ab￭ domin￭ al pain may be related to meals may be accompanied by weight loss and may be associated with an ab￭ domin￭ al bru￭ it heard by a clin￭ ician it is also called ce￭ li￭ ac artery compression syndrome
in medicine the median ar￭ cu￭ ate lig￭ ament syndrome m￭ als also known as ce￭ li￭ ac artery compression syndrome ce￭ li￭ ac axis syndrome ce￭ li￭ ac trunk compression syndrome or dun￭ bar syndrome is a condition characterized by ab￭ domin￭ al pain attributed to compression of the ce￭ li￭ ac artery and possibly the ce￭ li￭ ac gang￭ lia by the median ar￭ cu￭ ate lig￭ ament the ab￭ domin￭ al pain may be related to meals may be accompanied by weight loss and may be associated with an ab￭ domin￭ al bru￭ it heard by a clin￭ ician it is also called ce￭ li￭ ac artery compression syndrome the diagnosis of m￭ als is one of exclusion as many healthy patients demonstrate some degree of ce￭ li￭ ac artery compression in the absence of symptoms consequently a diagnosis of m￭ als is typically only enter￭ tained after more common conditions have been ruled out once suspected screening for m￭ als can be done with ul￭ tras￭ ono￭ graphy and confirmed with compu￭ ted tom￭ o￭ graphy ct or magnetic resonance mr an￭ gi￭ o￭ graphy treatment is generally surgical the main￭ stay being open division or separation of the median ar￭ cu￭ ate lig￭ ament combined with removal of the ce￭ li￭ ac gang￭ lia the majority of patients benefit from surgical intervention poorer responses to treatment tend to occur in patients of older age those with a psychiatric condition or who use alcohol have ab￭ domin￭ al pain unrelated to meals or who have not experienced weight loss
a￭ or￭ ti￭ tis
a￭ or￭ ti￭ tis is the infl￭ amm￭ ation of the a￭ or￭ tic wall the disorder is potentially life threatening and rare it is reported that there are only 1 – 3 new cases of a￭ or￭ ti￭ tis per year per million people in the united states and europe a￭ or￭ ti￭ tis is most common in people 10 to 40 years of age
vas￭ cu￭ li￭ tis
arter￭ i￭ tis
arter￭ i￭ tis is the infl￭ amm￭ ation of the walls of arter￭ ies usually as a result of infection or auto￭ immune response arter￭ i￭ tis a complex disorder is still not entirely understood arter￭ i￭ tis may be distinguished by its different types based on the organ systems affected by the disease a complic￭ ation of arter￭ i￭ tis is thro￭ m￭ bo￭ sis which can be fatal arter￭ i￭ tis and ph￭ le￭ bi￭ tis are forms of vas￭ cu￭ li￭ tis
hereditary hemorrha￭ gic tel￭ an￭ gi￭ ec￭ ta￭ sia
hereditary hemorrha￭ gic tel￭ an￭ gi￭ ec￭ ta￭ sia h￭ ht also known as o￭ sl￭ er – weber – ren￭ du disease and o￭ sl￭ er – weber – ren￭ du syndrome is an auto￭ som￭ al dominant genetic disorder that leads to abnormal blood vessel formation in the skin mu￭ co￭ us memb￭ ran￭ es and often in organs such as the lungs liver and brain the disease carries the names of sir william o￭ sl￭ er henri jules louis marie ren￭ du and frederick par￭ kes weber who described it in the late 19 th and early 20 th centuries
hereditary hemorrha￭ gic tel￭ an￭ gi￭ ec￭ ta￭ sia h￭ ht also known as o￭ sl￭ er – weber – ren￭ du disease and o￭ sl￭ er – weber – ren￭ du syndrome is an auto￭ som￭ al dominant genetic disorder that leads to abnormal blood vessel formation in the skin mu￭ co￭ us memb￭ ran￭ es and often in organs such as the lungs liver and brain it may lead to no￭ se￭ ble￭ eds acute and chronic dig￭ estive tract bleeding and various problems due to the involvement of other organs treatment focuses on reducing bleeding from blood vessel le￭ sions and sometimes surgery or other targeted interventions to remove arter￭ io￭ ven￭ ous mal￭ formations in organs chronic bleeding often requires iron supplements and sometimes blood trans￭ fu￭ sions h￭ ht is transmitted in an auto￭ som￭ al dominant fashion and occurs in one in 5 000 people the disease carries the names of sir william o￭ sl￭ er henri jules louis marie ren￭ du and frederick par￭ kes weber who described it in the late 19 th and early 20 th centuries
nev￭ us
nev￭ us also known as a mole is the medical term for sharply circum￭ scri￭ bed and chronic le￭ sions of the skin or mu￭ co￭ sa these le￭ sions are commonly named birth￭ marks or beauty marks ne￭ vi are benign by definition however 25 of m￭ align￭ ant mel￭ anom￭ as a skin cancer arise from pre existing ne￭ vi using the term nev￭ us and ne￭ vi loosely most physicians and der￭ mato￭ logists are actually referring to a variant of nev￭ us called the mel￭ an￭ oc￭ y￭ tic nev￭ us which are composed of mel￭ an￭ oc￭ y￭ tes his￭ to￭ logically mel￭ an￭ oc￭ y￭ tic ne￭ vi are distinguished from l￭ enti￭ gin￭ es also a type of benign pi￭ gm￭ ented mac￭ ule by the presence of ne￭ sts of mel￭ an￭ oc￭ y￭ tes which l￭ enti￭ gin￭ es plural form of l￭ enti￭ go lack
spider an￭ gi￭ oma
hal￭ o nev￭ us
hal￭ o nev￭ us also known as leuko￭ der￭ ma acquis￭ it￭ um centrifu￭ gum per￭ inev￭ o￭ id viti￭ li￭ go and su￭ tton nev￭ us is a mole that is surrounded by a de￭ pi￭ gm￭ ented ring or hal￭ o
ph￭ le￭ bi￭ tis
ph￭ le￭ bi￭ tis or ven￭ i￭ tis is the infl￭ amm￭ ation of a vein usually in the legs it most commonly occurs in superficial ve￭ ins ph￭ le￭ bi￭ tis often occurs in conjunction with thro￭ m￭ bo￭ sis and is then called thro￭ m￭ b￭ oph￭ le￭ bi￭ tis or superficial thro￭ m￭ b￭ oph￭ le￭ bi￭ tis unlike deep vein thro￭ m￭ bo￭ sis the probability that superficial thro￭ m￭ b￭ oph￭ le￭ bi￭ tis will cause a clo￭ t to break up and be transported in pieces to the lung is very low
thro￭ m￭ b￭ oph￭ le￭ bi￭ tis
thro￭ m￭ b￭ oph￭ le￭ bi￭ tis is ph￭ le￭ bi￭ tis vein infl￭ amm￭ ation related to a thro￭ m￭ bus which is a blood clo￭ t when it occurs repeatedly in different locations it is known as thro￭ m￭ b￭ oph￭ le￭ bi￭ tis migr￭ ans migr￭ ating thro￭ m￭ b￭ oph￭ le￭ bi￭ tis indicated by the tro￭ us￭ seau sign of m￭ align￭ ancy
thro￭ m￭ bo￭ sis
thro￭ m￭ bo￭ sis greek θρ￭ ό￭ μ￭ β￭ ω￭ σ￭ ις is the formation of a blood clo￭ t thro￭ m￭ bus greek θρ￭ ό￭ μ￭ β￭ ος inside a blood vessel obstructing the flow of blood through the circul￭ atory system when a blood vessel is injured the body uses plat￭ el￭ ets thro￭ m￭ bo￭ cy￭ tes and fi￭ br￭ in to form a blood clo￭ t to prevent blood loss even when a blood vessel is not injured blood clo￭ ts may form in the body under certain conditions a clo￭ t that breaks free and begins to travel around the body is known as an embol￭ us thro￭ m￭ bo￭ embol￭ ism is the combination of thro￭ m￭ bo￭ sis and its main complic￭ ation embol￭ ism
thro￭ m￭ bo￭ sis greek θρ￭ ό￭ μ￭ β￭ ω￭ σ￭ ις is the formation of a blood clo￭ t thro￭ m￭ bus greek θρ￭ ό￭ μ￭ β￭ ος inside a blood vessel obstructing the flow of blood through the circul￭ atory system when a blood vessel is injured the body uses plat￭ el￭ ets thro￭ m￭ bo￭ cy￭ tes and fi￭ br￭ in to form a blood clo￭ t to prevent blood loss even when a blood vessel is not injured blood clo￭ ts may form in the body under certain conditions a clo￭ t that breaks free and begins to travel around the body is known as an embol￭ us when a thro￭ m￭ bus is significantly large enough to reduce the blood flow to a tissue hypo￭ x￭ ia oxygen deprivation can occur and metabol￭ ic products such as lac￭ tic acid can accumulate a larger thro￭ m￭ bus causing a much greater obstruction to the blood flow may result in an￭ ox￭ ia the complete deprivation of oxygen and inf￭ arc￭ tion tissue death there are also a number of other conditions that can arise according to the location of the thro￭ m￭ bus and the organs affected thro￭ m￭ bo￭ embol￭ ism is the combination of thro￭ m￭ bo￭ sis and its main complic￭ ation embol￭ ism
ph￭ leg￭ ma￭ sia alba dol￭ ens
ph￭ leg￭ ma￭ sia alba dol￭ ens also col￭ lo￭ qu￭ ially known as milk leg or white leg is part of a spectrum of diseases related to deep vein thro￭ m￭ bo￭ sis historically it was commonly seen during pregnancy and in mothers who have just given birth in cases of pregnancy it is most often seen during the third trim￭ ester resulting from a compression of the left common ili￭ ac vein against the pel￭ vic rim by the enlarged uter￭ us today this disease is most commonly 40 of the time related to some form of underlying m￭ align￭ ancy hyper￭ co￭ ag￭ ul￭ ability a propensity to clo￭ t formation is a well known state that occurs in many cancer states the incidence of this disease is not well reported
ph￭ leg￭ ma￭ sia alba dol￭ ens also col￭ lo￭ qu￭ ially known as milk leg or white leg is part of a spectrum of diseases related to deep vein thro￭ m￭ bo￭ sis historically it was commonly seen during pregnancy and in mothers who have just given birth in cases of pregnancy it is most often seen during the third trim￭ ester resulting from a compression of the left common ili￭ ac vein against the pel￭ vic rim by the enlarged uter￭ us today this disease is most commonly 40 of the time related to some form of underlying m￭ align￭ ancy hyper￭ co￭ ag￭ ul￭ ability a propensity to clo￭ t formation is a well known state that occurs in many cancer states the incidence of this disease is not well reported the disease presumably begins with a deep vein thro￭ m￭ bo￭ sis that progres￭ ses to total oc￭ clu￭ sion of the deep ven￭ ous system it is at this stage that it is called ph￭ leg￭ ma￭ sia alba dol￭ ens it is a sudden acute process the leg then must rely on the superficial ven￭ ous system for drainage the superficial system is not adequate to handle the large volume of blood being delivered to the leg via the arter￭ ial system the result is e￭ dem￭ a pain and a white appearance alba of the leg the next step in the disease progression is oc￭ clu￭ sion of the superficial ven￭ ous system thereby preventing all ven￭ ous outflow from the extre￭ mity at this stage it is called ph￭ leg￭ ma￭ sia cer￭ ul￭ ea dol￭ ens the leg becomes more sw￭ oll￭ en and increasingly more painful additionally the e￭ dem￭ a and loss of ven￭ ous outflow impedes the arter￭ ial inflow is￭ chem￭ ia with progression to gang￭ rene are potential consequences ph￭ leg￭ ma￭ sia alba dol￭ ens is distinguished clin￭ ically from ph￭ leg￭ ma￭ sia cer￭ ul￭ ea dol￭ ens in that there is no is￭ chem￭ ia
deep vein thro￭ m￭ bo￭ sis
deep vein thro￭ m￭ bo￭ sis or deep ven￭ ous thro￭ m￭ bo￭ sis dv￭ t is the formation of a blood clo￭ t thro￭ m￭ bus within a deep vein most commonly the legs non￭ specific signs may include pain sw￭ elling red￭ ness warm￭ ness and eng￭ org￭ ed superficial ve￭ ins pul￭ mon￭ ary embol￭ ism a potentially life threatening complic￭ ation is caused by the det￭ achment emb￭ oli￭ zation of a clo￭ t that travels to the lungs together dv￭ t and pul￭ mon￭ ary embol￭ ism constitute a single disease process known as ven￭ ous thro￭ m￭ bo￭ embol￭ ism post thro￭ m￭ bo￭ tic syndrome another complic￭ ation significantly contributes to the health care cost of dv￭ t
deep vein thro￭ m￭ bo￭ sis or deep ven￭ ous thro￭ m￭ bo￭ sis dv￭ t is the formation of a blood clo￭ t thro￭ m￭ bus within a deep vein most commonly the legs non￭ specific signs may include pain sw￭ elling red￭ ness warm￭ ness and eng￭ org￭ ed superficial ve￭ ins pul￭ mon￭ ary embol￭ ism a potentially life threatening complic￭ ation is caused by the det￭ achment emb￭ oli￭ zation of a clo￭ t that travels to the lungs together dv￭ t and pul￭ mon￭ ary embol￭ ism constitute a single disease process known as ven￭ ous thro￭ m￭ bo￭ embol￭ ism post thro￭ m￭ bo￭ tic syndrome another complic￭ ation significantly contributes to the health care cost of dv￭ t in 18￭ 56 german patho￭ logist ru￭ dol￭ f vir￭ chow post￭ ulated the interplay of three processes resulting in ven￭ ous thro￭ m￭ bo￭ sis now known as vir￭ chow s tri￭ ad a decreased blood flow rate ven￭ ous st￭ asis increased tendency to clo￭ t hyper￭ co￭ ag￭ ul￭ ability and changes to the blood vessel wall dv￭ t formation typically begins inside the valves of the calf ve￭ ins where the blood is relatively oxygen deprived which activ￭ ates certain bio￭ chemical pathways several medical conditions increase the risk for dv￭ t including cancer trauma and anti￭ phosp￭ holi￭ pid syndrome other risk factors include older age surgery im￭ mobilization as with bed rest orth￭ o￭ ped￭ ic casts and sitting on long flights combined oral contrac￭ ep￭ tives pregnancy the post￭ natal period and genetic factors those genetic factors include deficiencies with anti￭ thro￭ m￭ bin protein c and protein s the mutation of factor v le￭ iden and the property of having a non o blood type individuals suspected of having dv￭ t may be assessed using a clinical prediction rule such as the wells score a d di￭ mer test may also be used to assist with excluding the diagnosis because of its high sensitivity or to signal a need for further testing diagnosis is most commonly done with ul￭ tras￭ ound of the suspected ve￭ ins prevention options for at risk individuals include early and frequent walking calf exercises anti￭ co￭ ag￭ ul￭ ants aspir￭ in graduated compression stock￭ ings and inter￭ mit￭ tent pneumatic compression anti￭ co￭ ag￭ ulation is the standard treatment typical medications include low molecular weight he￭ par￭ in or a vitamin k antagon￭ ist wearing graduated compression stock￭ ings appears to reduce the risk of post thro￭ m￭ bo￭ tic syndrome the rate of dv￭ ts increases from childhood to old age in adul￭ thood about one in 1000 adults is affected per year
mon￭ dor s disease
mon￭ dor s disease also known as mon￭ dor s syndrome of superficial thro￭ m￭ b￭ oph￭ le￭ bi￭ tis is a rare condition which involves thro￭ m￭ b￭ oph￭ le￭ bi￭ tis of the superficial ve￭ ins of the breast and an￭ terior chest wall it sometimes occurs in the arm or penis in ax￭ illa this condition is known as ax￭ ill￭ ary web syndrome it is named after henri mon￭ dor 18￭ 85 1962 a surgeon in paris france who first described the disease in 1939
bud￭ d – chi￭ ari syndrome
bud￭ d – chi￭ ari syndrome is a condition caused by oc￭ clu￭ sion of the he￭ p￭ atic ve￭ ins that drain the liver it presents with the classical tri￭ ad of ab￭ domin￭ al pain as￭ cites and liver enlargement the formation of a blood clo￭ t within the he￭ p￭ atic ve￭ ins can lead to bud￭ d – chi￭ ari syndrome it occurs in 1 out of a million individuals the syndrome can be ful￭ min￭ ant acute chronic or as￭ ymp￭ tomatic
ren￭ al vein thro￭ m￭ bo￭ sis
ren￭ al vein thro￭ m￭ bo￭ sis r￭ v￭ t is the formation of a clo￭ t in the vein that dra￭ ins blood from the kidneys ultimately leading to a reduction in the drainage of one or both kidneys and the possible migration of the clo￭ t to other parts of the body first described by german patho￭ logist friedrich daniel von reck￭ ling￭ ha￭ usen in 18￭ 61 r￭ v￭ t most commonly affects two sub￭ populations newly born infants with blood clo￭ tting ab￭ norm￭ alities or dehydr￭ ation and adults with ne￭ ph￭ ro￭ tic syndrome ne￭ ph￭ ro￭ tic syndrome a kidney disorder causes excessive loss of protein in the urine hypo￭ albu￭ min￭ emia hyper￭ cho￭ le￭ ster￭ ol￭ emia and e￭ dem￭ a triggering a hyper￭ co￭ ag￭ ul￭ able state and increasing chances of clo￭ t formation other less common causes include hyper￭ co￭ ag￭ ul￭ able state cancer ren￭ al transplantation beh￭ cet syndrome anti￭ pho￭ s
pag￭ et – schro￭ et￭ ter disease
pag￭ et – schro￭ et￭ ter disease also known as pag￭ et – von schrö￭ tter disease is a form of upper extre￭ mity deep vein thro￭ m￭ bo￭ sis dv￭ t a medical condition in which blood clo￭ ts form in the deep ve￭ ins of the arms these dv￭ ts typically occur in the ax￭ ill￭ ary or sub￭ cl￭ avian ve￭ ins
vari￭ cose ve￭ ins
vari￭ cose ve￭ ins are ve￭ ins that have become enlarged and twisted the term commonly refers to the ve￭ ins on the leg although vari￭ cose ve￭ ins can occur elsewhere ve￭ ins have pairs of leaflet valves to prevent blood from flowing backwards retrograde flow or ven￭ ous ref￭ lux leg muscles pump the ve￭ ins to return blood to the heart the sk￭ el￭ etal muscle pump against the effects of gravity when ve￭ ins become vari￭ cose the leaf￭ lets of the valves no longer meet properly and the valves do not work val￭ vul￭ ar incompetence this allows blood to flow backwards and they enlarge even more vari￭ cose ve￭ ins are most common in the superficial ve￭ ins of the legs which are subject to high pressure when standing besides being a cosmetic problem vari￭ cose ve￭ ins can be painful especially when standing severe l
ven￭ ous ul￭ cer
es￭ op￭ ha￭ ge￭ al var￭ ices
in medicine gastro￭ enter￭ ology es￭ op￭ ha￭ ge￭ al var￭ ices or o￭ es￭ op￭ ha￭ ge￭ al var￭ ices are extremely dil￭ ated sub mu￭ cos￭ al ve￭ ins in the lower third of the es￭ op￭ ha￭ gus they are most often a consequence of portal hyper￭ tension commonly due to cir￭ rho￭ sis patients with es￭ op￭ ha￭ ge￭ al var￭ ices have a strong tendency to develop bleeding es￭ op￭ ha￭ ge￭ al var￭ ices are diagnosed with endo￭ sco￭ py
vari￭ co￭ ce￭ le
a vari￭ co￭ ce￭ le is an abnormal enlargement of the p￭ amp￭ ini￭ form ven￭ ous plex￭ us in the scro￭ tum this plex￭ us of ve￭ ins dra￭ ins the tes￭ tic￭ les the tes￭ tic￭ ular blood vessels originate in the ab￭ dom￭ en and course down through the ingu￭ inal canal as part of the sper￭ matic cord on their way to the testi￭ s upward flow of blood in the ve￭ ins is ensured by small one way valves that prevent back￭ flow defective valves or compression of the vein by a nearby structure can cause dil￭ ation of the tes￭ tic￭ ular ve￭ ins near the testi￭ s leading to the formation of a vari￭ co￭ ce￭ le causes of vari￭ co￭ ce￭ le include val￭ vul￭ ar incompetence nut￭ cracker syndrome and ren￭ al cell carcin￭ oma
cap￭ ut med￭ us￭ ae
cap￭ ut med￭ us￭ ae also known as palm tree sign is the appearance of dist￭ ended and eng￭ org￭ ed superficial epi￭ ga￭ str￭ ic ve￭ ins which are seen radi￭ ating from the um￭ bil￭ ic￭ us across the ab￭ dom￭ en the name cap￭ ut med￭ us￭ ae latin for head of med￭ usa originates from the apparent similarity to med￭ usa s head which had ven￭ om￭ ous snakes in place of hair it is also a syndrome of portal hyper￭ tension it is caused by the par￭ au￭ m￭ bil￭ ical ve￭ ins which carries oxy￭ genated blood from mother to fe￭ tus in uter￭ o and normally closes within one week of birth becoming re can￭ alised due to portal hyper￭ tension caused by liver failure
superior ven￭ a cav￭ a syndrome
superior ven￭ a cav￭ a syndrome sv￭ cs is a group of symptoms caused by obstruction of the superior ven￭ a cav￭ a a short wide vessel carrying circulating blood into the heart more than 90 of cases of superior ven￭ a cav￭ a obstruction sv￭ co are caused by cancer most commonly bron￭ cho￭ genic carcin￭ oma typically a tumor outside the vessel com￭ pressing the vessel wall but it can sometimes have a benign cause characteristic features are e￭ dem￭ a sw￭ elling due to excess fluid of the face and arms and development of sw￭ oll￭ en collateral ve￭ ins on the front of the chest wall short￭ ness of breath and cou￭ gh￭ ing are quite common symptoms difficulty sw￭ allowing is reported in 11 of cases headache in 6 and stri￭ dor a high pitched whe￭ e￭ ze in 4 the condition is rarely life threatening though e￭ dem￭ a of th
inferior ven￭ a cav￭ a syndrome
inferior ven￭ a cav￭ a syndrome iv￭ cs is a result of obstruction of the inferior ven￭ a cav￭ a it can be caused by invasion or compression by a pathological process or by thro￭ m￭ bo￭ sis in the vein itself it can also occur during pregnancy pregnancy can lead to problems with blood return due to high ven￭ ous pressure in the lower limbs failure of blood return to the heart decreased cardiac output due to obstruc￭ tions in inferior ven￭ a cav￭ a sudden rise in ven￭ ous pressure which can lead to plac￭ ental separation and a decrease in ren￭ al function all of these issues can arise from lying in the sup￭ ine position during late pregnancy which can cause compression of the inferior ven￭ a cav￭ a symptoms of late pregnancy inferior ven￭ a cav￭ a syndrome consist of intense pain in the right hand side muscle tw￭ it￭ ching
inferior ven￭ a cav￭ a syndrome iv￭ cs is a result of obstruction of the inferior ven￭ a cav￭ a it can be caused by invasion or compression by a pathological process or by thro￭ m￭ bo￭ sis in the vein itself it can also occur during pregnancy pregnancy can lead to problems with blood return due to high ven￭ ous pressure in the lower limbs failure of blood return to the heart decreased cardiac output due to obstruc￭ tions in inferior ven￭ a cav￭ a sudden rise in ven￭ ous pressure which can lead to plac￭ ental separation and a decrease in ren￭ al function all of these issues can arise from lying in the sup￭ ine position during late pregnancy which can cause compression of the inferior ven￭ a cav￭ a symptoms of late pregnancy inferior ven￭ a cav￭ a syndrome consist of intense pain in the right hand side muscle tw￭ it￭ ching drop of blood pressure and fluid retention
chronic ven￭ ous in￭ sufficiency
chronic ven￭ ous in￭ sufficiency c￭ vi is a medical condition in which the ve￭ ins cannot pump enough blood back to the heart the most common cause of c￭ vi is superficial ven￭ ous ref￭ lux which is a treat￭ able condition as functional ven￭ ous valves are required to provide for efficient blood return from the lower extre￭ mi￭ ties this condition typically affects the legs if the impaired vein function causes significant symptoms such as sw￭ elling and ul￭ cer formation it is referred to as chronic ven￭ ous disease c￭ vi includes vari￭ cose ve￭ ins and superficial ven￭ ous ref￭ lux hidden vari￭ cose ve￭ ins it is sometimes called chronic peripheral ven￭ ous in￭ sufficiency and should not be confused with post thro￭ m￭ bo￭ tic syndrome in which the deep ve￭ ins have been damaged by previous deep vein thro￭ m￭ bo￭ sis
chronic cere￭ bro￭ spinal ven￭ ous in￭ sufficiency
chronic cere￭ bro￭ spinal ven￭ ous in￭ sufficiency cc￭ s￭ vi or cc￭ vi is a term developed by italian researcher paolo zam￭ bon￭ i in 2008 to describe compromised flow of blood in the ve￭ ins draining the central nervous system zam￭ bon￭ i hypothe￭ sized that it played a role in the cause or development of multiple sclerosis ms zam￭ bon￭ i also devised a procedure which was termed by the media as liberation procedure or liberation therapy involving ven￭ op￭ la￭ sty or st￭ enting of certain ve￭ ins in an attempt to improve blood flow
chronic cere￭ bro￭ spinal ven￭ ous in￭ sufficiency cc￭ s￭ vi or cc￭ vi is a term developed by italian researcher paolo zam￭ bon￭ i in 2008 to describe compromised flow of blood in the ve￭ ins draining the central nervous system zam￭ bon￭ i hypothe￭ sized that it played a role in the cause or development of multiple sclerosis ms zam￭ bon￭ i also devised a procedure which was termed by the media as liberation procedure or liberation therapy involving ven￭ op￭ la￭ sty or st￭ enting of certain ve￭ ins in an attempt to improve blood flow within the medical community both the procedure and cc￭ s￭ vi itself have been met with skepticism zam￭ bon￭ i s first published research was neither blinded nor did it have a comparison group zam￭ bon￭ i also did not disclose his financial ties to es￭ a￭ ote the manufacturer of the ul￭ tras￭ ound specifically used in cc￭ s￭ vi diagnosis the liberation procedure has been criticized for possibly resulting in serious complications and deaths while its benefits have not been proven the united states food and drug administration states that it is not clear if cc￭ s￭ vi exists as a clinical entity and that these treatments may cause more harm research on cc￭ s￭ vi has been fast tracked but researchers have been unable to confirm whether cc￭ s￭ vi has a role in causing ms this has raised serious objections to the hypothesis of cc￭ s￭ vi originating multiple sclerosis additional research investigating the cc￭ s￭ vi hypothesis is underway a 2013 study found that cc￭ s￭ vi is equally rare in people with and without ms while narrowing of the cer￭ vic￭ al ve￭ ins is equally common
lymp￭ he￭ dem￭ a
lymp￭ he￭ dem￭ a is a condition of loc￭ alized fluid retention and tissue sw￭ elling caused by a compromised lymp￭ h￭ atic system which normally returns inter￭ sti￭ tial fluid to the thor￭ ac￭ ic duc￭ t then the blood￭ stream the condition can be inherited or can be caused by a birth defect though it is frequently caused by cancer treatments and by par￭ asi￭ tic infections though incur￭ able and progressive a number of treatments can amelior￭ ate symptoms tissues with lymp￭ he￭ dem￭ a are at high risk of infection
lymp￭ han￭ gi￭ tis
lymp￭ han￭ gi￭ tis is an infl￭ amm￭ ation or an infection of the lymp￭ h￭ atic channels that occurs as a result of infection at a site dis￭ tal to the channel the most common cause of lymp￭ han￭ gi￭ tis in humans is st￭ rep￭ to￭ co￭ cc￭ us py￭ o￭ genes group a stre￭ p although it can also be caused by the fun￭ gus spor￭ o￭ thri￭ x sch￭ en￭ ck￭ ii lymp￭ han￭ gi￭ tis is sometimes mistakenly called blood poisoning in reality blood poisoning is synonymous with sep￭ sis when the inferior limbs are affected the red￭ ness of the skin runs over the great sap￭ hen￭ ous vein location and confusion can be made with a thro￭ m￭ b￭ oph￭ le￭ bi￭ tis
lymp￭ han￭ gi￭ tis is an infl￭ amm￭ ation or an infection of the lymp￭ h￭ atic channels that occurs as a result of infection at a site dis￭ tal to the channel the most common cause of lymp￭ han￭ gi￭ tis in humans is st￭ rep￭ to￭ co￭ cc￭ us py￭ o￭ genes group a stre￭ p although it can also be caused by the fun￭ gus spor￭ o￭ thri￭ x sch￭ en￭ ck￭ ii lymp￭ han￭ gi￭ tis is sometimes mistakenly called blood poisoning in reality blood poisoning is synonymous with sep￭ sis signs and symptoms include a deep red￭ dening of the skin warmth lymp￭ had￭ eni￭ tis infl￭ amm￭ ation of a lymp￭ h￭ atic g￭ land and a raised border around the affected area the person may also have ch￭ ills and a high fever along with moderate pain and sw￭ elling a person with lymp￭ han￭ gi￭ tis should be hosp￭ itali￭ zed and closely monitored by medical professionals lymp￭ han￭ gi￭ tis is the infl￭ amm￭ ation of the lymp￭ h￭ atic vessels and channels this is characterized by certain infl￭ am￭ matory conditions of the skin caused by bacterial infections thin red lines may be observed running along the course of the lymp￭ h￭ atic vessels in the affected area accompanied by painful enlargement of the nearby lymp￭ h no￭ des when the inferior limbs are affected the red￭ ness of the skin runs over the great sap￭ hen￭ ous vein location and confusion can be made with a thro￭ m￭ b￭ oph￭ le￭ bi￭ tis chronic lymp￭ han￭ gi￭ tis is a cu￭ taneous condition that is the result of recurrent b￭ outs of acute bacterial lymp￭ han￭ gi￭ tis
lymp￭ ho￭ ce￭ le
a lymp￭ ho￭ ce￭ le is a collection of lymp￭ h￭ atic fluid within the body not b￭ ordered by epi￭ the￭ li￭ al lining it is usually a surgical complic￭ ation seen after extensive pel￭ vic surgery such as cancer surgery and is most commonly found in the retro￭ per￭ it￭ one￭ al space spontaneous development is rare
ch￭ y￭ lo￭ thor￭ ax
a ch￭ y￭ lo￭ thor￭ ax or ch￭ yle leak is a type of ple￭ ural eff￭ usion it results from lymp￭ h formed in the dig￭ estive system called ch￭ yle accumulating in the ple￭ ural cav￭ ity due to either disruption or obstruction of the thor￭ ac￭ ic duc￭ t in people on a normal diet this eff￭ usion can be identified by its tur￭ bid mil￭ ky white appearance since ch￭ yle contains high levels of tri￭ gly￭ cer￭ ci￭ des it is important to distinguish ch￭ y￭ lo￭ thor￭ ax from pseu￭ do￭ ch￭ y￭ lo￭ thor￭ ax ple￭ ural eff￭ u￭ sions high in cho￭ le￭ sterol which has a similar appearance but is caused by more chronic infl￭ am￭ matory processes and has a different treatment
hypo￭ tension
hypo￭ tension is low blood pressure especially in the arter￭ ies of the systemic circulation blood pressure is the force of blood pushing against the walls of the arter￭ ies as the heart pumps out blood hypo￭ tension is generally considered if syst￭ ol￭ ic blood pressure less than 90 milli￭ meters of mercury mm h￭ g or di￭ ast￭ ol￭ ic less than 60 mm h￭ g however in practice blood pressure is considered too low only if noticeable symptoms are present
hypo￭ tension is low blood pressure especially in the arter￭ ies of the systemic circulation blood pressure is the force of blood pushing against the walls of the arter￭ ies as the heart pumps out blood hypo￭ tension is generally considered if syst￭ ol￭ ic blood pressure less than 90 milli￭ meters of mercury mm h￭ g or di￭ ast￭ ol￭ ic less than 60 mm h￭ g however in practice blood pressure is considered too low only if noticeable symptoms are present hypo￭ tension is the opposite of hyper￭ tension which is high blood pressure it is best understood as a physiological state rather than a disease severely low blood pressure can deprive the brain and other vital organs of oxygen and nutrients leading to a life threatening condition called shock though often associated with shock hypo￭ tension is not necessarily indicative of it for some people who exercise and are in top physical condition low blood pressure is a sign of good health and fitness for many people excessively low blood pressure can cause di￭ zz￭ iness and fain￭ ting or indicate serious heart endocrine or neuro￭ logical disorders
common cold
common cold also known simply as a cold is a viral infectious disease of the upper respiratory tract that primarily affects the nose the throat sin￭ uses and voice box may also be affected signs and symptoms may begin less than two days following exposure they include cou￭ gh￭ ing sore throat run￭ ny nose snee￭ zing headache and fever people usually recover in seven to ten days some symptoms may last up to three weeks in those with other health problems pneumonia may occasionally develop
common cold also known simply as a cold is a viral infectious disease of the upper respiratory tract that primarily affects the nose the throat sin￭ uses and voice box may also be affected signs and symptoms may begin less than two days following exposure they include cou￭ gh￭ ing sore throat run￭ ny nose snee￭ zing headache and fever people usually recover in seven to ten days some symptoms may last up to three weeks in those with other health problems pneumonia may occasionally develop well over 200 virus strains are implicated in the cause of the common cold the rhin￭ o￭ viruses are the most common they spread through the air during close contact with infected people and indirectly through contact with objects in the environment followed by transfer to the mouth or nose risk factors include going to day￭ care not sleeping well and psychological stress symptoms are mostly due to the body s immune response to the infection rather than to tissue destruction by the viruses themselves people with influenza often show similar symptoms as people with a cold though symptoms are usually more severe in the former there is no vaccine for the common cold the primary methods of prevention are hand washing not touching the eyes nose or mouth with un￭ washed hands and staying away from other sick people some evidence supports the use of face masks no cure for the common cold exists but the symptoms can be treated non￭ ster￭ o￭ idal anti infl￭ am￭ matory drugs n￭ s￭ aids such as i￭ bu￭ prof￭ en may help with pain antibiotics should not be used evidence does not support a benefit from cough medicines the common cold is the most frequent infectious disease in humans the average adult gets two to four col￭ ds a year while the average child may get six to eight they occur more commonly during the winter these infections have been with humanity since ancient times
sin￭ u￭ si￭ tis
sin￭ u￭ si￭ tis also known as a sin￭ us infection or rhin￭ o￭ sin￭ u￭ si￭ tis is infl￭ amm￭ ation of the sin￭ uses resulting in symptoms common signs and symptoms include thick nas￭ al m￭ uc￭ us a plu￭ gged nose and pain in the face other signs and symptoms may include fever headaches poor sense of smell sore throat and cough the cough is often worse at night serious complications are rare it is defined as acute rhin￭ o￭ sin￭ u￭ si￭ tis ars if it lasts less than 4 weeks and as chronic rhin￭ o￭ sin￭ u￭ si￭ tis crs if it lasts for more than 12 weeks
phar￭ yn￭ gi￭ tis
phar￭ yn￭ gi￭ tis is infl￭ amm￭ ation of the back of the throat known as the phar￭ yn￭ x it typically results in a sore throat and fever other symptoms may include a run￭ ny nose cough headache a ho￭ arse voice symptoms usually last three to five days complications can include sin￭ u￭ si￭ tis and acute o￭ ti￭ tis media phar￭ yn￭ gi￭ tis is typically a type of respiratory tract infection
ton￭ sil￭ li￭ tis
ton￭ sil￭ li￭ tis is infl￭ amm￭ ation of the ton￭ si￭ ls typically of rapid onset it is a type of phar￭ yn￭ gi￭ tis symptoms may include sore throat fever enlargement of the ton￭ si￭ ls trouble sw￭ allowing and large lymp￭ h no￭ des around the neck complications include per￭ it￭ on￭ sill￭ ar abs￭ c￭ ess
lar￭ yn￭ gi￭ tis
lar￭ yn￭ gi￭ tis is an infl￭ amm￭ ation of the lar￭ yn￭ x it causes ho￭ arse voice or temporary loss of the voice due to irritation of the vocal fol￭ ds vocal cords lar￭ yn￭ gi￭ tis is one possible cause of dy￭ sp￭ hon￭ ia the medical term for a vocal disorder lar￭ yn￭ gi￭ tis is categor￭ ised as acute if it lasts less than three weeks and chronic if it lasts over three weeks the chronic form occurs mostly in middle age and is much more common in men than women antibiotics do not appear to be very useful in the acute form
trac￭ hei￭ tis
trac￭ hei￭ tis is an infl￭ amm￭ ation of the trac￭ hea although the trac￭ hea is usually considered part of the lower respiratory tract in ic￭ d 10 trac￭ hei￭ tis is classified under acute upper respiratory infections
ep￭ ig￭ lot￭ ti￭ tis
ep￭ ig￭ lot￭ ti￭ tis is infl￭ amm￭ ation of the ep￭ ig￭ lot￭ tis — the fl￭ ap at the base of the tongue that keeps food from going into the trac￭ hea wind￭ pipe symptoms are usually rapid in onset and include trouble sw￭ allowing which can result in dro￭ oling changes to the voice fever and an increased breathing rate as the ep￭ ig￭ lot￭ tis is in the upper air￭ way sw￭ elling can interfere with breathing people may lean forward in an effort to open the air￭ way as the condition wor￭ sens stri￭ dor and blu￭ ish skin may occur
ep￭ ig￭ lot￭ ti￭ tis is infl￭ amm￭ ation of the ep￭ ig￭ lot￭ tis — the fl￭ ap at the base of the tongue that keeps food from going into the trac￭ hea wind￭ pipe symptoms are usually rapid in onset and include trouble sw￭ allowing which can result in dro￭ oling changes to the voice fever and an increased breathing rate as the ep￭ ig￭ lot￭ tis is in the upper air￭ way sw￭ elling can interfere with breathing people may lean forward in an effort to open the air￭ way as the condition wor￭ sens stri￭ dor and blu￭ ish skin may occur ep￭ ig￭ lot￭ ti￭ tis was historically mostly caused by infection by h influ￭ enz￭ ae type b with vaccination it is now more often caused by other bacteria other possible causes include burns and trauma to the area the most accurate way to make the diagnosis is to look directly at the ep￭ ig￭ lot￭ tis x rays of the neck from the side may show a th￭ umb￭ print sign but the lack of this sign does not mean the condition is absent an effective vaccine the hi￭ b vaccine has been available since the 1980 s the antibiotic ri￭ fam￭ pin may also be used to prevent the disease among those who have been exposed to the disease and are at high risk the most important part of treatment involves securing the air￭ way which is often done by endo￭ trac￭ heal intu￭ b￭ ation intra￭ ven￭ ous antibiotics such as ce￭ f￭ tri￭ ax￭ one and possibly van￭ com￭ y￭ cin or clin￭ dam￭ y￭ cin is then given cor￭ ti￭ co￭ ster￭ oids are also typically used with appropriate treatment the risk of death among children with the condition is about one percent and among adults is seven percent with the use of the hi￭ b vaccine the number of cases of ep￭ ig￭ lot￭ ti￭ tis has decreased by more than 95 while historically young children were mostly affected it is now more common among older children and adults in the united states it affects about 1 3 per 100 000 children a year in adults between 1 and 4 per 100 000 are affected a year it occurs more commonly in the developing world
swine influenza
swine influenza also called pig influenza swine flu hog flu and pig flu is an infection caused by any one of several types of swine influenza viruses swine influenza virus si￭ v or swine origin influenza virus s o￭ iv is any strain of the influenza family of viruses that is endemic in pigs as of 2009 the known si￭ v strains include influenza c and the sub￭ types of influenza a known as h 1 n 1 h 1 n 2 h 2 n 1 h 3 n 1 h 3 n 2 and h 2 n 3 in august 2010 the world health organization declared the swine flu pandemic officially over
influenza
flu and gri￭ ppe redirect here for other uses see flu dis￭ ambigu￭ ation and gri￭ ppe dis￭ ambigu￭ ation influenza commonly known as the flu is an infectious disease caused by an influenza virus symptoms can be mild to severe the most common symptoms include a high fever run￭ ny nose sore throat muscle pains headache cou￭ gh￭ ing and feeling tired these symptoms typically begin two days after exposure to the virus and most last less than a week the cough however may last for more than two weeks in children there may be naus￭ ea and v￭ om￭ iting but these are not common in adults naus￭ ea and v￭ om￭ iting occur more commonly in the unrelated infection gastro￭ enter￭ i￭ tis which is sometimes in￭ accurately referred to as stomach flu or 24 hour flu complications of influenza may include vi
pneumonia
pneumonia is an infl￭ am￭ matory condition of the lung affecting primarily the micro￭ scopic air sac￭ s known as al￭ ve￭ oli typical signs and symptoms include a varying severity and combination of productive or dry cough chest pain fever and trouble breathing depending on the underlying cause
acute bron￭ chi￭ tis
acute bron￭ chi￭ tis also known as a chest cold is short term infl￭ amm￭ ation of the bron￭ chi large and medium sized airways of the lungs the most common symptom is a cough other symptoms include cou￭ gh￭ ing up m￭ uc￭ us whe￭ e￭ zing short￭ ness of breath fever and chest discomfort the infection may last from a few to ten days the cough may persist for several weeks afterwards with the total duration of symptoms usually around three weeks some have symptoms for up to six weeks
bron￭ chi￭ tis
bron￭ chi￭ tis is infl￭ amm￭ ation of the bron￭ chi large and medium sized airways in the lungs symptoms include cou￭ gh￭ ing up m￭ uc￭ us whe￭ e￭ zing short￭ ness of breath and chest discomfort bron￭ chi￭ tis is divided into two types acute and chronic acute bron￭ chi￭ tis is also known as a chest cold acute bron￭ chi￭ tis is one of the most common diseases about 5 of adults are affected and about 6 of children have at least one episode a year in 2010 cop￭ d affects 329 million people or nearly 5 of the global population in 2013 it resulted in 2 9 million deaths up from 2 4 million deaths in 1990
bron￭ chi￭ oli￭ tis
bron￭ chi￭ oli￭ tis is infl￭ amm￭ ation of the bron￭ chi￭ oles the smallest air passages of the lungs it usually occurs in children less than two years of age with the majority being aged between three and six months it presents with cou￭ gh￭ ing whe￭ e￭ zing and short￭ ness of breath which can cause some children difficulty in feeding this infl￭ amm￭ ation is usually caused by respiratory syn￭ cy￭ tial virus 70 of cases and is much more common in the winter months
chronic atro￭ ph￭ ic rh￭ initi￭ s
nas￭ al poly￭ p
nas￭ al poly￭ ps n￭ p are non can￭ cer￭ ous grow￭ ths within the nose or sin￭ uses symptoms include trouble breathing through the nose loss of smell decreased taste post nas￭ al drip and a run￭ ny nose the grow￭ ths are s￭ ac like movable and non￭ tender they typically occur in both no￭ stri￭ ls in those who are affected face pain may occasionally occur complications may include sin￭ u￭ si￭ tis
nas￭ al poly￭ ps n￭ p are non can￭ cer￭ ous grow￭ ths within the nose or sin￭ uses symptoms include trouble breathing through the nose loss of smell decreased taste post nas￭ al drip and a run￭ ny nose the grow￭ ths are s￭ ac like movable and non￭ tender they typically occur in both no￭ stri￭ ls in those who are affected face pain may occasionally occur complications may include sin￭ u￭ si￭ tis the exact cause is unclear they occur more commonly among people who have allergies c￭ ys￭ tic fi￭ bro￭ sis aspir￭ in sensitivity or certain infections they are over￭ grow￭ ths of the mu￭ co￭ us memb￭ ran￭ es diagnosis may occur by looking up the nose and a ct scan may be used to help plan treatment treatment is typically with ster￭ oids often in the form of a nas￭ al spray if this is not effective surgery may be considered the condition may recur following surgery anti￭ hist￭ am￭ ines may help with symptoms but do not change the underlying disease antibiotics are not required unless complications occur about 4 of people currently have nas￭ al poly￭ ps while up to 40 of people develop them at some point in their life they most often occur after the age of 20 and are more frequent in males than females
nas￭ al sep￭ tum deviation
nas￭ al sep￭ tum deviation or devi￭ ated nas￭ al sep￭ tum d￭ ns is a physical disorder of the nose involving a displacement of the nas￭ al sep￭ tum some displacement is common affecting 80 of people most un￭ knowingly
rhin￭ oli￭ th
a rhin￭ oli￭ th is a calcul￭ us present in the nas￭ al cav￭ ity the word is derived from the roots rhin￭ o and li￭ th literally meaning nose stone it is an un￭ common medical phenomenon not to be confused with dried nas￭ al m￭ uc￭ us a rhin￭ oli￭ th usually forms around the nucleus of a small exo￭ genous foreign body blood clo￭ t or secre￭ tion by slow de￭ position of calcium and magnesium salts over a period of time they grow into large irregular masses that fill the nas￭ al cav￭ ity they may cause pressure necro￭ sis of the nas￭ al sep￭ tum or lateral wall of nose rhin￭ oli￭ ths can cause nas￭ al obstruction ep￭ is￭ tax￭ is headache sin￭ u￭ si￭ tis and ep￭ ip￭ hor￭ a they can be diagnosed from the history with unilateral foul sm￭ elling blood stained nas￭ al discharge or by an￭ terior rhin￭ o￭ sco￭ py on prob￭ ing probe can be passed around all its
aden￭ o￭ id hyper￭ tro￭ phy
aden￭ o￭ id hyper￭ tro￭ phy or enlarged aden￭ oids is the unusual growth hyper￭ tro￭ phy of the aden￭ o￭ id ton￭ sil first described by the danish physician wil￭ helm me￭ yer 18￭ 24 18￭ 95 in copenhagen in 1868 he described that a long term aden￭ o￭ id hyper￭ tro￭ phy will cause an obstruction of the nas￭ al airways these will lead to a d￭ ent￭ o￭ facial growth anomaly that was defined as aden￭ o￭ id fac￭ ies see long face syndrome
aden￭ o￭ id hyper￭ tro￭ phy or enlarged aden￭ oids is the unusual growth hyper￭ tro￭ phy of the aden￭ o￭ id ton￭ sil first described by the danish physician wil￭ helm me￭ yer 18￭ 24 18￭ 95 in copenhagen in 1868 he described that a long term aden￭ o￭ id hyper￭ tro￭ phy will cause an obstruction of the nas￭ al airways these will lead to a d￭ ent￭ o￭ facial growth anomaly that was defined as aden￭ o￭ id fac￭ ies see long face syndrome there is very little lymp￭ ho￭ id tissue in the nas￭ op￭ har￭ yn￭ x of young babies humans are born without substantial aden￭ oids the m￭ at of lymp￭ ho￭ id tissue called aden￭ oids starts to get si￭ z￭ able during the first year of life just how big the aden￭ oids become is quite variable between individual children
per￭ it￭ on￭ sill￭ ar abs￭ c￭ ess
unlike ton￭ sil￭ li￭ tis which is more common in the pedi￭ atric age group pta has a more even age spread from children to adults symptoms start appearing two to eight days before the formation of an abs￭ c￭ ess a progressively severe sore throat on one side and pain during sw￭ allowing od￭ y￭ no￭ p￭ ha￭ gia usually are the earliest symptoms as the abs￭ c￭ ess develops persistent pain in the per￭ it￭ on￭ sill￭ ar area fever a general sense of feeling un￭ well headache and a distortion of vo￭ wels informally known as hot potato voice may appear neck pain associated with tender sw￭ oll￭ en lymp￭ h no￭ des referred ear pain and foul breath are also common while these signs may be present in ton￭ sil￭ li￭ tis itself a pta should be specifically considered if there is limited ability to open the mouth tr￭ is￭ mus
vocal fold pa￭ res￭ is
recurrent lar￭ yn￭ ge￭ al nerve paralysis also called vocal fold paralysis or pa￭ res￭ is is the medical term describing an injury to one or both recurrent lar￭ yn￭ ge￭ al nerves rl￭ ns which control all muscles of the lar￭ yn￭ x except for the cri￭ co￭ thyro￭ id muscle the r￭ ln is important for voc￭ alization breathing and sw￭ allowing
vocal fold no￭ dule
a vocal fold no￭ dule is a mass of tissue that grows on a vocal fold typically this mass appears on the junction of the an￭ terior 1 3 and poster￭ ior 2 3 of the vocal fold where contact is most forceful a vocal fold no￭ dule reduces the ability of the vocal fol￭ ds to create the rapid changes in air pressure which generate human speech symptoms include ho￭ arsen￭ ess painful speech production frequent vocal breaks and reduced vocal range ho￭ arsen￭ ess or brea￭ thiness that lasts for more than two weeks may signal a voice disorder and should be followed up with an ot￭ ol￭ ar￭ yn￭ go￭ logist
vocal cord dysfunction
rein￭ ke s e￭ dem￭ a
rein￭ ke s e￭ dem￭ a also known as poly￭ po￭ id de￭ generation poly￭ po￭ id cor￭ di￭ tis and e￭ dem￭ at￭ ous hyp￭ ter￭ tro￭ phy is the sw￭ elling of the vocal cords due to fluid e￭ dem￭ a collected within the rein￭ ke s space first identified by the german anatom￭ ist friedrich b rein￭ ke in 18￭ 95 the rein￭ ke s space is a gelat￭ inous layer of the vocal cord located underneath the outer cells of the vocal cord when a person speaks the rein￭ ke s space vibr￭ ates to allow for sound to be produced ph￭ on￭ ation the rein￭ ke s space is sometimes referred to as the superficial lam￭ ina propri￭ a
rein￭ ke s e￭ dem￭ a also known as poly￭ po￭ id de￭ generation poly￭ po￭ id cor￭ di￭ tis and e￭ dem￭ at￭ ous hyp￭ ter￭ tro￭ phy is the sw￭ elling of the vocal cords due to fluid e￭ dem￭ a collected within the rein￭ ke s space first identified by the german anatom￭ ist friedrich b rein￭ ke in 18￭ 95 the rein￭ ke s space is a gelat￭ inous layer of the vocal cord located underneath the outer cells of the vocal cord when a person speaks the rein￭ ke s space vibr￭ ates to allow for sound to be produced ph￭ on￭ ation the rein￭ ke s space is sometimes referred to as the superficial lam￭ ina propri￭ a rein￭ ke s e￭ dem￭ a is characterized by the s￭ ac like appearance of the fluid filled vocal cords the sw￭ elling of the vocal fol￭ ds causes the voice to become deep and ho￭ arse therefore the major symptom of rein￭ ke s e￭ dem￭ a is a ho￭ arsen￭ ess similar to lar￭ yn￭ gi￭ tis the major cause associated with rein￭ ke s e￭ dem￭ a is smoking in fact 97 of patient s diagnosed with rein￭ ke s e￭ dem￭ a are habitual smokers other identified risk factors include over￭ use of the vocal cords gastro￭ es￭ op￭ ha￭ ge￭ al ref￭ lux and hypo￭ thyro￭ i￭ dis￭ m the disease is more often cited in women than in men because lower voice changes are more noticeable in women the first cases of rein￭ ke s e￭ dem￭ a were recorded in 18￭ 91 by m ha￭ j￭ ek followed by f rein￭ ke in 18￭ 95 in his investigations rein￭ ke injected a stained glue into the superficial lam￭ ina propri￭ a rein￭ ke s space to mim￭ ic e￭ dem￭ a rein￭ ke s e￭ dem￭ a is considered to be a benign non can￭ cer￭ co￭ us poly￭ p pro￭ tru￭ sion that represents 10 of all benign lar￭ yn￭ ge￭ al patho￭ logies treatment of rein￭ ke ’ s e￭ dem￭ a starts with the elimination of associated risk factors such as smoking ga￭ str￭ ic ref￭ lux and hypo￭ thyro￭ i￭ dis￭ m advanced cases may undergo phono￭ surgery to remove the fluid from the vocal cords
lar￭ yn￭ go￭ sp￭ asm
in medicine lar￭ yn￭ go￭ sp￭ asm is an uncontrolled involuntary muscular contraction sp￭ asm of the vocal fol￭ ds the condition typically lasts less than 60 seconds but in some cases can last 20 30 minutes and causes a partial blocking of breathing in while breathing out remains easier it may be triggered when the vocal cords or the area of the trac￭ hea below the vocal fol￭ ds detec￭ ts the entry of water m￭ uc￭ us blood or other substance it is characterized by stri￭ dor and or re￭ tr￭ actions some people suffer from frequent lar￭ yn￭ go￭ sp￭ as￭ ms whether awake or asleep in an ear nose and throat practice it is typically seen in people who have silent ref￭ lux disease it is also a well known inf￭ requ￭ ent but serious peri￭ operative complic￭ ation
chronic obstruc￭ tive pul￭ mon￭ ary disease
chronic obstruc￭ tive pul￭ mon￭ ary disease cop￭ d is a type of obstruc￭ tive lung disease characterized by long term poor air￭ flow the main symptoms include short￭ ness of breath and cough with sp￭ u￭ tum production cop￭ d typically wor￭ sens over time eventually walking up stairs or carrying things will be difficult chronic bron￭ chi￭ tis and emph￭ ys￭ ema are older terms used for different types of cop￭ d the term chronic bron￭ chi￭ tis is still used to define a productive cough that is present for at least three months each year for two years
asthma
asthma is a common long term infl￭ am￭ matory disease of the airways of the lungs it is characterized by variable and recurring symptoms reversible air￭ flow obstruction and bron￭ cho￭ sp￭ asm symptoms include episodes of whe￭ e￭ zing cou￭ gh￭ ing chest ti￭ ght￭ ness and short￭ ness of breath these episodes may occur a few times a day or a few times per week depending on the person they may become worse at night or with exercise
asthma is a common long term infl￭ am￭ matory disease of the airways of the lungs it is characterized by variable and recurring symptoms reversible air￭ flow obstruction and bron￭ cho￭ sp￭ asm symptoms include episodes of whe￭ e￭ zing cou￭ gh￭ ing chest ti￭ ght￭ ness and short￭ ness of breath these episodes may occur a few times a day or a few times per week depending on the person they may become worse at night or with exercise asthma is thought to be caused by a combination of genetic and environmental factors environmental factors include exposure to air pollution and aller￭ gens other potential triggers include medications such as aspir￭ in and beta bloc￭ kers diagnosis is usually based on the pattern of symptoms response to therapy over time and spi￭ ro￭ metry asthma is classified according to the frequency of symptoms forced expir￭ atory volume in one second f￭ ev 1 and peak expir￭ atory flow rate it may also be classified as at￭ op￭ ic or non at￭ op￭ ic where at￭ op￭ y refers to a pre￭ disposition toward developing a type 1 hy￭ pers￭ ensi￭ tivity reaction there is no cure for asthma symptoms can be prevented by avoiding triggers such as aller￭ gens and irrit￭ ants and by the use of inhal￭ ed cor￭ ti￭ co￭ ster￭ oids long acting beta agon￭ ists lab￭ a or anti￭ leuko￭ tri￭ ene agents may be used in addition to inhal￭ ed cor￭ ti￭ co￭ ster￭ oids if asthma symptoms remain uncontrolled treatment of rapidly worsening symptoms is usually with an inhal￭ ed short acting beta 2 agon￭ ist such as sal￭ but￭ am￭ ol and cor￭ ti￭ co￭ ster￭ oids taken by mouth in very severe cases intra￭ ven￭ ous cor￭ ti￭ co￭ ster￭ oids magnesium sul￭ fate and hosp￭ itali￭ zation may be required in 2013 242 million people globally had asthma up from 183 million in 1990 it caused about 489 000 deaths in 2013 most of which occurred in the developing world it often begins in childhood the rates of asthma have increased significantly since the 1960 s asthma was recognized as early as ancient egypt the word asthma is from the greek ἅ￭ σ￭ θ￭ μα á￭ s￭ th￭ ma which means p￭ anting
acute severe asthma
acute severe asthma also referred to in latin as status asth￭ m￭ atic￭ us or asth￭ matic status is an acute exacerb￭ ation of asthma that does not respond to standard treatments of bron￭ cho￭ di￭ lators inhal￭ ers and ster￭ oids symptoms include chest ti￭ ght￭ ness rapidly progressive dy￭ sp￭ ne￭ a short￭ ness of breath dry cough use of accessory respiratory muscles lab￭ ored breathing and extreme whe￭ e￭ zing it is a life threatening episode of air￭ way obstruction and is considered a medical emergency complications include cardiac and or respiratory arrest
acute severe asthma also referred to in latin as status asth￭ m￭ atic￭ us or asth￭ matic status is an acute exacerb￭ ation of asthma that does not respond to standard treatments of bron￭ cho￭ di￭ lators inhal￭ ers and ster￭ oids symptoms include chest ti￭ ght￭ ness rapidly progressive dy￭ sp￭ ne￭ a short￭ ness of breath dry cough use of accessory respiratory muscles lab￭ ored breathing and extreme whe￭ e￭ zing it is a life threatening episode of air￭ way obstruction and is considered a medical emergency complications include cardiac and or respiratory arrest it is characterized his￭ to￭ logically by smooth muscle hyper￭ tro￭ phy and basement memb￭ rane thick￭ ening
bron￭ chi￭ ec￭ tas￭ is
bron￭ chi￭ ec￭ tas￭ is is a disease in which there is permanent enlargement of parts of the airways of the lung symptoms typically include a chronic cough productive of m￭ uc￭ us other symptoms include short￭ ness of breath cou￭ gh￭ ing up blood and chest pain whe￭ e￭ zing and nail clu￭ bbing may also occur those with the disease often get frequent lung infections
coal￭ worker s pneu￭ mo￭ con￭ i￭ osis
coal workers pneu￭ mo￭ con￭ i￭ osis cw￭ p also known as black lung disease or black lung is caused by long exposure to coal dust it is common in coal min￭ ers and others who work with coal it is similar to both sili￭ co￭ sis from inhal￭ ing silic￭ a dust and to the long term effects of tobacco smoking inhal￭ ed coal dust progressively builds up in the lungs and cannot be removed by the body this leads to infl￭ amm￭ ation fi￭ bro￭ sis and in worse cases necro￭ sis in 2013 cw￭ p resulted in 25 000 deaths down from 29 000 deaths in 1990
coal workers pneu￭ mo￭ con￭ i￭ osis cw￭ p also known as black lung disease or black lung is caused by long exposure to coal dust it is common in coal min￭ ers and others who work with coal it is similar to both sili￭ co￭ sis from inhal￭ ing silic￭ a dust and to the long term effects of tobacco smoking inhal￭ ed coal dust progressively builds up in the lungs and cannot be removed by the body this leads to infl￭ amm￭ ation fi￭ bro￭ sis and in worse cases necro￭ sis coal workers pneu￭ mo￭ con￭ i￭ osis severe state develops after the initial mil￭ der form of the disease known as anthra￭ co￭ sis anth￭ rac — coal carbon this is often as￭ ymp￭ tomatic and is found to at least some extent in all urban dwell￭ ers due to air pollution prolonged exposure to large amounts of coal dust can result in more serious forms of the disease simple coal workers pneu￭ mo￭ con￭ i￭ osis and complicated coal workers pneu￭ mo￭ con￭ i￭ osis or progressive massive fi￭ bro￭ sis or p￭ m￭ f more commonly workers exposed to coal dust develop industrial bron￭ chi￭ tis clin￭ ically defined as chronic bron￭ chi￭ tis i e productive cough for 3 months per year for at least 2 years associated with workplace dust exposure the incidence of industrial bron￭ chi￭ tis varies with age job exposure and smoking in non￭ smokers who are less prone to develop bron￭ chi￭ tis than smokers studies of coal min￭ ers have shown a 16 to 17 incidence of industrial bron￭ chi￭ tis in 2013 cw￭ p resulted in 25 000 deaths down from 29 000 deaths in 1990
pneu￭ mo￭ con￭ i￭ osis
as￭ besto￭ sis
as￭ besto￭ sis is a chronic infl￭ am￭ matory and scar￭ ring disease affecting the tissue of the lungs people with the condition may experience severe short￭ ness of breath and are at an increased risk for certain cancers including lung cancer and less commonly mes￭ o￭ the￭ li￭ oma as￭ besto￭ sis specifically refers to fi￭ bro￭ sis within the lung tissue from asbestos and not scar￭ ring around the outside of the lungs
sili￭ co￭ sis
sili￭ co￭ sis previously min￭ er s ph￭ th￭ is￭ is grin￭ der s asthma pot￭ ter s rot and other occupation related names is a form of occupational lung disease caused by inhal￭ ation of cryst￭ alline silic￭ a dust and is marked by infl￭ amm￭ ation and scar￭ ring in the form of no￭ d￭ ular le￭ sions in the upper lob￭ es of the lungs it is a type of pneu￭ mo￭ con￭ i￭ osis sili￭ co￭ sis particularly the acute form is characterized by short￭ ness of breath cough fever and cyan￭ osis blu￭ ish skin it may often be mis￭ diagnosed as pul￭ mon￭ ary e￭ dem￭ a fluid in the lungs pneumonia or tuberculosis
ber￭ yl￭ li￭ osis
ber￭ yl￭ li￭ osis or chronic ber￭ yl￭ lium disease c￭ b￭ d is a chronic allergic type lung response and chronic lung disease caused by exposure to ber￭ yl￭ lium and its compounds a form of ber￭ yl￭ lium poisoning it is distinct from acute ber￭ yl￭ lium poisoning which became rare following occupational exposure limits established around 1950 ber￭ yl￭ li￭ osis is an occupational lung disease the condition is incur￭ able but symptoms can be treated
sid￭ er￭ osis
b￭ ys￭ sin￭ osis
b￭ ys￭ sin￭ osis also called brown lung disease or monday fever is an occupational lung disease caused by exposure to cotton dust in inadequately ventil￭ ated working environments b￭ ys￭ sin￭ osis commonly occurs in workers who are employed in yarn and fabric manufacture industries it is now thought that the cotton dust directly causes the disease and some believe that the caus￭ ative agents are endo￭ toxins that come from the cell walls of gram negative bacteria that grow on the cotton although bacterial endo￭ toxin is a likely cause the absence of similar symptoms in workers in other industries exposed to endo￭ toxins makes this uncertain
bird fanci￭ er s lung
bird fanci￭ er s lung is a type of hy￭ pers￭ ensi￭ tivity pneu￭ mon￭ i￭ tis caused by bird dro￭ pp￭ ings the lungs become infl￭ amed with gran￭ ul￭ oma formation bird fanci￭ er s lung b￭ fl also called bird breeder s lung and pigeon breeder s lung is a sub￭ set of hy￭ pers￭ ensi￭ tivity pneu￭ mon￭ i￭ tis h￭ p this disease is caused by the exposure to avian proteins present in the dry dust of the dro￭ pp￭ ings and sometimes in the feathers of a variety of birds birds such as pigeons par￭ a￭ ke￭ ets cock￭ ati￭ els shell par￭ a￭ ke￭ ets bud￭ ger￭ ig￭ ars par￭ rots turtle do￭ ves turkeys and chickens have been implicated
aspiration pneumonia
radiation induced lung injury
pul￭ mon￭ ary radiation injury is a general term for damage to the lungs which occurs as a result of exposure to ionizing radiation in general terms such damage is divided into early infl￭ am￭ matory damage radiation pneu￭ mon￭ i￭ tis and later complications of chronic scar￭ ring radiation fi￭ bro￭ sis pul￭ mon￭ ary radiation injury most commonly occurs as a result of radiation therapy administered to treat cancer the lungs are a radio￭ sensitive organ and radiation pneu￭ mon￭ i￭ tis can occur leading to pul￭ mon￭ ary in￭ sufficiency and death 100 after exposure to 50 gray of radiation in a few months
acute respiratory distress syndrome
acute respiratory distress syndrome ards is a medical condition occurring in critically ill patients characterized by widespread infl￭ amm￭ ation in the lungs ards is not a particular disease rather it is a clinical phen￭ o￭ type which may be triggered by various patho￭ logies such as trauma pneumonia and sep￭ sis the hallmark of ards is diffuse injury to cells which form the al￭ ve￭ ol￭ ar barrier sur￭ fac￭ tant dysfunction activation of the in￭ nate immune response and abnormal co￭ ag￭ ulation in effect ards results in impaired gas exchange within the lungs at the level of the micro￭ scopic al￭ ve￭ oli
l￭ ö￭ ff￭ ler s syndrome
l￭ ö￭ ff￭ ler s syndrome or lo￭ eff￭ ler s syndrome is a disease in which e￭ o￭ sin￭ oph￭ ils accumulate in the lung in response to a par￭ asi￭ tic infection it was first described in 19￭ 32 by wil￭ helm l￭ ö￭ ff￭ ler in cases of e￭ o￭ sin￭ oph￭ il￭ ic pneumonia caused by the parasites as￭ car￭ is lum￭ bri￭ co￭ ides stron￭ gy￭ lo￭ ides ster￭ cor￭ alis and the hook￭ worms an￭ cy￭ lo￭ stom￭ a du￭ o￭ den￭ ale and nec￭ ator americ￭ an￭ us
l￭ ö￭ ff￭ ler s syndrome or lo￭ eff￭ ler s syndrome is a disease in which e￭ o￭ sin￭ oph￭ ils accumulate in the lung in response to a par￭ asi￭ tic infection it was first described in 19￭ 32 by wil￭ helm l￭ ö￭ ff￭ ler in cases of e￭ o￭ sin￭ oph￭ il￭ ic pneumonia caused by the parasites as￭ car￭ is lum￭ bri￭ co￭ ides stron￭ gy￭ lo￭ ides ster￭ cor￭ alis and the hook￭ worms an￭ cy￭ lo￭ stom￭ a du￭ o￭ den￭ ale and nec￭ ator americ￭ an￭ us although l￭ ö￭ ff￭ ler only described e￭ o￭ sin￭ oph￭ il￭ ic pneumonia in the context of infection many authors give the term l￭ ö￭ ff￭ ler s syndrome to any form of acute onset pul￭ mon￭ ary e￭ o￭ sin￭ ophi￭ lia no matter what the underlying cause if the cause is unknown it is specified and called simple pul￭ mon￭ ary e￭ o￭ sin￭ ophi￭ lia cardiac damage caused by the damaging effects of e￭ o￭ sin￭ ophi￭ l gran￭ ule proteins ex major basic protein is known as lo￭ eff￭ ler endo￭ cardi￭ tis and can be caused by idi￭ opathic e￭ o￭ sin￭ ophi￭ lia or e￭ o￭ sin￭ ophi￭ lia in response to par￭ asi￭ tic infection
pul￭ mon￭ ary al￭ ve￭ ol￭ ar prote￭ in￭ osis
acute inter￭ sti￭ tial pneu￭ mon￭ i￭ tis
acute inter￭ sti￭ tial pneu￭ mon￭ i￭ tis also known as acute inter￭ sti￭ tial pneumonia or ham￭ man – rich syndrome is a rare severe lung disease that usually affects otherwise healthy individuals there is no known cause or cure acute inter￭ sti￭ tial pneu￭ mon￭ i￭ tis is often categ￭ orized as both an inter￭ sti￭ tial lung disease and a form of acute respiratory distress syndrome ards but it is distinguished from the chronic forms of inter￭ sti￭ tial pneumonia such as idi￭ opathic pul￭ mon￭ ary fi￭ bro￭ sis
pul￭ mon￭ ary fi￭ bro￭ sis
pul￭ mon￭ ary fi￭ bro￭ sis literally scar￭ ring of the lungs is a respiratory disease in which scars are formed in the lung tissues leading to serious breathing problems scar formation the accumulation of excess fi￭ bro￭ us connec￭ tive tissue the process called fi￭ bro￭ sis leads to thick￭ ening of the walls and causes reduced oxygen supply in the blood as a consequence patients suffer from perpetual short￭ ness of breath
pul￭ mon￭ ary fi￭ bro￭ sis literally scar￭ ring of the lungs is a respiratory disease in which scars are formed in the lung tissues leading to serious breathing problems scar formation the accumulation of excess fi￭ bro￭ us connec￭ tive tissue the process called fi￭ bro￭ sis leads to thick￭ ening of the walls and causes reduced oxygen supply in the blood as a consequence patients suffer from perpetual short￭ ness of breath in some patients the specific cause of the disease can be diagnosed but in others the probable cause cannot be determined a condition called idi￭ opathic pul￭ mon￭ ary fi￭ bro￭ sis there is no known cure for the scars and damage in the lung due to pul￭ mon￭ ary fi￭ bro￭ sis
idi￭ opathic pul￭ mon￭ ary fi￭ bro￭ sis
idi￭ opathic pul￭ mon￭ ary fi￭ bro￭ sis ip￭ f is a chronic and ultimately fatal disease characterized by a progressive decline in lung function the term pul￭ mon￭ ary fi￭ bro￭ sis means scar￭ ring of lung tissue and is the cause of worsening dy￭ sp￭ ne￭ a short￭ ness of breath fi￭ bro￭ sis is usually associated with a poor prog￭ no￭ sis treatment may include n￭ inte￭ dani￭ b or pir￭ fen￭ id￭ one
idi￭ opathic pul￭ mon￭ ary fi￭ bro￭ sis ip￭ f is a chronic and ultimately fatal disease characterized by a progressive decline in lung function the term pul￭ mon￭ ary fi￭ bro￭ sis means scar￭ ring of lung tissue and is the cause of worsening dy￭ sp￭ ne￭ a short￭ ness of breath fi￭ bro￭ sis is usually associated with a poor prog￭ no￭ sis ip￭ f belongs to a large group of more than 200 lung diseases known as inter￭ sti￭ tial lung diseases il￭ ds characterized by the involvement of lung inter￭ sti￭ tium the inter￭ sti￭ tium the tissue between the air sac￭ s in the lung is the primary site of injury in il￭ ds however these disorders frequently affect not only the inter￭ sti￭ tium but also the air￭ spaces peripheral airways and vessels lung tissue from people with ip￭ f shows a characteristic hist￭ opath￭ o￭ logic pattern known as usual inter￭ sti￭ tial pneumonia u￭ ip u￭ ip is therefore the patho￭ logic counterpart of ip￭ f the term idi￭ opathic is used because the cause of pul￭ mon￭ ary fi￭ bro￭ sis is still unknown ip￭ f usually occurs in adult individuals of between 50 and 70 years of age particularly those with a history of cigarette smoking and affects more men than women the diagnosis of ip￭ f requires exclusion of other known causes of il￭ ds and the presence of a typical radiological pattern identified through high resolution compu￭ ted tom￭ o￭ graphy hr￭ ct in the right clinical setting it is possible to make the diagnosis of ip￭ f by hr￭ ct alone obvi￭ ating the need for surgical lung biopsy treatment may include n￭ inte￭ dani￭ b or pir￭ fen￭ id￭ one
lymp￭ han￭ gi￭ ole￭ i￭ om￭ y￭ om￭ at￭ osis
lymp￭ han￭ gi￭ ole￭ i￭ om￭ y￭ om￭ at￭ osis lam is a rare progressive and systemic disease that typically results in c￭ ys￭ tic lung destruction and predominantly affects women especially during child￭ bearing years it occurs in more than 30 of women with tuber￭ ous sclerosis complex ts￭ c lam a her￭ itable syndrome that is associated with seizures cognitive impairment and benign tumors in multiple tissues most lam patients who present for medical evaluation have the spor￭ adic form of the disease s lam however which is not associated with other manifestations of tuber￭ ous sclerosis complex
inter￭ sti￭ tial lung disease
inter￭ sti￭ tial lung disease ild or diffuse paren￭ ch￭ ym￭ al lung disease dp￭ ld is a group of lung diseases affecting the inter￭ sti￭ tium the tissue and space around the air sac￭ s of the lungs it concerns al￭ ve￭ ol￭ ar epi￭ the￭ lium pul￭ mon￭ ary cap￭ ill￭ ary endo￭ the￭ lium basement memb￭ rane peri￭ vascular and peril￭ ymp￭ h￭ atic tissues it may occur when an injury to the lungs triggers an abnormal healing response ordinarily the body generates just the right amount of tissue to repair damage but in inter￭ sti￭ tial lung disease the repair process goes aw￭ ry and the tissue around the air sac￭ s al￭ ve￭ oli becomes scar￭ red and thick￭ ened this makes it more difficult for oxygen to pass into the blood￭ stream the term ild is used to distinguish these diseases from obstruc￭ tive airways diseases
ple￭ ural emp￭ y￭ ema
ple￭ ural emp￭ y￭ ema also known as py￭ o￭ thor￭ ax or pur￭ ul￭ ent ple￭ uri￭ tis is emp￭ y￭ ema an accumulation of p￭ us in the ple￭ ural cav￭ ity that can develop when bacteria invade the ple￭ ural space usually in the context of a pneumonia it is one of various kinds of ple￭ ural eff￭ usion there are three stages ex￭ ud￭ ative when there is an increase in ple￭ ural fluid with or without the presence of p￭ us fi￭ brin￭ op￭ ur￭ ul￭ ent when fi￭ bro￭ us sep￭ ta form loc￭ alized p￭ us pockets and the final organizing stage when there is scar￭ ring of the ple￭ ura memb￭ ran￭ es with possible inability of the lung to expand simple ple￭ ural eff￭ u￭ sions occur in up to 40 of bacterial pneu￭ mon￭ ias they are usually small and resolve with appropriate antibiotic therapy if however an emp￭ y￭ ema develops additional intervention is required
ple￭ ur￭ isy
ple￭ ur￭ isy also known as ple￭ uri￭ tis is an infl￭ amm￭ ation of the ple￭ ur￭ ae the memb￭ ran￭ es of the ple￭ ural cav￭ ity surrounding the lungs there are many possible causes of ple￭ ur￭ isy but viral infections spreading from the lungs to the ple￭ ural cav￭ ity are the most common the infl￭ amed ple￭ ural layers rub against each other every time the lungs expand to breathe in air this can cause sharp pain when breathing also called ple￭ uri￭ tic chest pain the condition may either be primary or secondary and is often associated with a ple￭ ural eff￭ usion
ple￭ ural eff￭ usion
pneu￭ mo￭ thor￭ ax
a pneu￭ mo￭ thor￭ ax is an abnormal collection of air in the ple￭ ural space that causes an un￭ coupling of the lung from the chest wall like a ple￭ ural eff￭ usion liquid buil￭ dup in that space a pneu￭ mo￭ thor￭ ax may interfere with normal breathing symptoms typically include chest pain and short￭ ness of breath it is often called a collapsed lung although that term may also refer to at￭ elect￭ asis one or both lungs may be affected
a pneu￭ mo￭ thor￭ ax is an abnormal collection of air in the ple￭ ural space that causes an un￭ coupling of the lung from the chest wall like a ple￭ ural eff￭ usion liquid buil￭ dup in that space a pneu￭ mo￭ thor￭ ax may interfere with normal breathing symptoms typically include chest pain and short￭ ness of breath it is often called a collapsed lung although that term may also refer to at￭ elect￭ asis one or both lungs may be affected a primary pneu￭ mo￭ thor￭ ax is one that occurs without an apparent cause and in the absence of significant lung disease while a secondary pneu￭ mo￭ thor￭ ax occurs in the presence of existing lung disease a pneu￭ mo￭ thor￭ ax can be caused by physical trauma to the chest including a blast injury or as a complic￭ ation of a healthcare intervention in which case it is called a traumatic pneu￭ mo￭ thor￭ ax in a minority of cases the amount of air in the chest increases markedly when a one way valve is formed by an area of damaged tissue leading to a tension pneu￭ mo￭ thor￭ ax this condition can cause a steadily worsening oxygen shortage and low blood pressure unless reversed by effective treatment it can result in death diagnosis of a pneu￭ mo￭ thor￭ ax by physical examination alone can be difficult particularly in smaller pneu￭ mo￭ thor￭ aces a chest x ray compu￭ ted tom￭ o￭ graphy ct scan or ul￭ tras￭ ound is usually used to confirm its presence small spontaneous pneu￭ mo￭ thor￭ aces typically resolve without treatment and require only monitoring this approach may be most appropriate in people who have no underlying lung disease in a larger pneu￭ mo￭ thor￭ ax or when there are marked symptoms the air may be removed with a syr￭ inge or a chest tube connected to a one way valve system occasionally surgery may be required if tube drainage is unsuccessful or as a preventive measure if there have been repeated episodes the surgical treatments usually involve ple￭ u￭ ro￭ des￭ is in which the layers of ple￭ ura are induced to stick together or ple￭ u￭ rec￭ tomy the surgical removal of ple￭ ural memb￭ ran￭ es
h￭ emo￭ thor￭ ax
hem￭ op￭ neu￭ mo￭ thor￭ ax
hem￭ op￭ neu￭ mo￭ thor￭ ax or ha￭ em￭ op￭ neu￭ mo￭ thor￭ ax is a medical term describing the combination of two conditions pneu￭ mo￭ thor￭ ax or air in the chest cav￭ ity and h￭ emo￭ thor￭ ax also called h￭ æ￭ mo￭ thor￭ ax or blood in the chest cav￭ ity
hem￭ op￭ neu￭ mo￭ thor￭ ax or ha￭ em￭ op￭ neu￭ mo￭ thor￭ ax is a medical term describing the combination of two conditions pneu￭ mo￭ thor￭ ax or air in the chest cav￭ ity and h￭ emo￭ thor￭ ax also called h￭ æ￭ mo￭ thor￭ ax or blood in the chest cav￭ ity a h￭ emo￭ thor￭ ax pneu￭ mo￭ thor￭ ax or both can occur if the chest wall is punc￭ tured to understand the ramifications of this it is important to have an understanding of the role of the ple￭ ural space the ple￭ ural space is located anatom￭ ically between the vis￭ cer￭ al memb￭ rane which is firmly attached to the lungs and the par￭ ie￭ tal memb￭ rane which is firmly attached to the chest wall aka rib￭ cage and inter￭ cost￭ al muscles muscles between the ribs the ple￭ ural space contains ple￭ ural fluid this fluid holds the two memb￭ ran￭ es together by surface tension as much as a drop of water between two sheets of glass prevents them from separating because of this when the inter￭ cost￭ al muscles move the rib￭ cage outward the lungs are pulled out as well dropping the pressure in the lungs and pulling air into the bron￭ chi when we breathe in the ple￭ ural space is maintained in a constant state of negative pressure in comparison to atmospheric pressure if the chest wall and thus the ple￭ ural space is punc￭ tured blood air or both can enter the ple￭ ural space air blood ru￭ shes into the space in order to equ￭ alise the pressure with that of the atmosphere as a result the fluid is disrupted and the two memb￭ ran￭ es no longer adhere to each other when the ri￭ b cage moves out it no longer pulls the lungs with it thus the lungs cannot expand the pressure in the lungs never drops and no air is pulled into the bron￭ chi respir￭ ation is not possible the affected lung which has a great deal of elastic tissue shri￭ vel￭ s in what is referred to as a collapsed lung
hydro￭ thor￭ ax
trac￭ he￭ o￭ es￭ op￭ ha￭ ge￭ al f￭ ist￭ ula
a trac￭ he￭ o￭ es￭ op￭ ha￭ ge￭ al f￭ ist￭ ula te￭ f or t￭ of see spelling differences is an abnormal connection f￭ ist￭ ula between the es￭ op￭ ha￭ gus and the trac￭ hea te￭ f is a common con￭ genital ab￭ normality but when occurring late in life is usually the sequ￭ ela of surgical procedures such as a lar￭ yn￭ g￭ ec￭ tomy
respiratory failure
respiratory failure results from inadequate gas exchange by the respiratory system meaning that the arter￭ ial oxygen carbon dioxide or both cannot be kept at normal levels a drop in the oxygen carried in blood is known as hypo￭ x￭ emia a rise in arter￭ ial carbon dioxide levels is called hyper￭ cap￭ nia respiratory failure is classified as either type i or type ii based on whether there is a high carbon dioxide level the definition of respiratory failure in clinical trials usually includes increased respiratory rate abnormal blood gases hypo￭ x￭ emia hyper￭ cap￭ nia or both and evidence of increased work of breathing
primary ci￭ li￭ ary dy￭ sk￭ ine￭ sia
primary ci￭ li￭ ary dy￭ sk￭ ine￭ sia p￭ cd also im￭ mo￭ tile ci￭ li￭ ary syndrome or kar￭ tag￭ ener syndrome is a rare ci￭ li￭ opathic auto￭ som￭ al rec￭ essive genetic disorder that causes defects in the action of ci￭ lia lining the respiratory tract lower and upper sin￭ uses eu￭ st￭ achi￭ an tube middle ear and fall￭ op￭ ian tube as well as in the flag￭ ella of sperm cells the phrase im￭ mo￭ tile ci￭ li￭ ary syndrome is no longer favored as the ci￭ lia do have movement but may be inefficient or un￭ synchron￭ ized
primary ci￭ li￭ ary dy￭ sk￭ ine￭ sia p￭ cd also im￭ mo￭ tile ci￭ li￭ ary syndrome or kar￭ tag￭ ener syndrome is a rare ci￭ li￭ opathic auto￭ som￭ al rec￭ essive genetic disorder that causes defects in the action of ci￭ lia lining the respiratory tract lower and upper sin￭ uses eu￭ st￭ achi￭ an tube middle ear and fall￭ op￭ ian tube as well as in the flag￭ ella of sperm cells the phrase im￭ mo￭ tile ci￭ li￭ ary syndrome is no longer favored as the ci￭ lia do have movement but may be inefficient or un￭ synchron￭ ized respiratory epi￭ the￭ li￭ al mo￭ tile ci￭ lia which resemble micro￭ scopic ha￭ irs although structurally and bio￭ logically unrelated to hair are complex organ￭ elles that beat synchron￭ ously in the respiratory tract moving m￭ uc￭ us toward the throat normally ci￭ lia beat 7 to 22 times per second and any impairment can result in poor mu￭ co￭ ci￭ li￭ ary clearance with subsequent upper and lower respiratory infection ci￭ lia also are involved in other biological processes such as nit￭ ric oxide production which are currently the subject of dozens of research efforts as the functions of ci￭ lia become better understood the understanding of p￭ cd should be expected to advance
at￭ elect￭ asis
at￭ elect￭ asis is the collapse or closure of a lung resulting in reduced or absent gas exchange it may affect part or all of a lung it is usually not bilateral it is a condition where the al￭ ve￭ oli are defl￭ ated down to little or no volume as distinct from pul￭ mon￭ ary consolidation in which they are filled with liquid
pneu￭ mom￭ edi￭ ast￭ inum
pneu￭ mom￭ edi￭ ast￭ inum from greek pneu￭ ma air also known as medi￭ ast￭ inal emph￭ ys￭ ema is pneu￭ mat￭ osis abnormal presence of air or other gas in the medi￭ ast￭ inum first described in 18￭ 19 by ren￭ é la￭ en￭ n￭ ec the condition can result from physical trauma or other situations that lead to air escaping from the lungs airways or bo￭ wel into the chest cav￭ ity
medi￭ ast￭ initi￭ s
medi￭ ast￭ initi￭ s is infl￭ amm￭ ation of the tissues in the mid chest or medi￭ ast￭ inum it can be either acute or chronic acute medi￭ ast￭ initi￭ s is usually bacterial and due to rupture of organs in the medi￭ ast￭ inum as the infection can progress rapidly this is considered a serious condition chronic s￭ cl￭ ero￭ sing or fi￭ bro￭ sing medi￭ ast￭ initi￭ s while potentially serious is caused by a long standing infl￭ amm￭ ation of the medi￭ ast￭ inum leading to growth of ac￭ ell￭ ular coll￭ agen and fi￭ bro￭ us tissue within the chest and around the central vessels and airways it has a different cause treatment and prog￭ no￭ sis than acute infectious medi￭ ast￭ initi￭ s
cap￭ lan s syndrome
hypo￭ don￭ tia
in dentistry hypo￭ don￭ tia is the condition at which the patient has missing teeth as a result of the failure of those teeth to develop also called tooth agen￭ esis hypo￭ don￭ tia describes a situation where the patient is missing up to five permanent teeth excluding the 3 rd mol￭ ars missing third mol￭ ars occur in 9 30 of studied populations in primary denti￭ tion the max￭ illa is more affected with the condition usually involving the max￭ ill￭ ary lateral incis￭ or
hyper￭ don￭ tia
hyper￭ don￭ tia is the condition of having super￭ numer￭ ary teeth or teeth that appear in addition to the regular number of teeth they can appear in any area of the dental arch and can affect any dental organ one of the most well know cases is john￭ cr￭ is carl qu￭ ir￭ ante of bar￭ ang￭ ay loo￭ c du￭ man￭ ju￭ g ce￭ bu who has 300 teeth
tooth gem￭ ination
tooth gem￭ ination is a dental phenomenon that appears to be two teeth developed from one there is one main crown with a cle￭ ft in it that within the cer￭ vic￭ al third of the crown looks like two teeth though it is not two teeth the number of the teeth in the arch will be normal
dental fluor￭ osis
dental fluor￭ osis also termed mo￭ tt￭ led en￭ am￭ el is an extremely common disorder characterized by hypo￭ miner￭ alization of tooth en￭ am￭ el caused by ing￭ estion of excessive flu￭ oride during en￭ am￭ el formation it appears as a range of visual changes in en￭ am￭ el causing degrees of intrinsic tooth dis￭ color￭ ation and in some cases physical damage to the teeth the severity of the condition is dependent on the dose duration and age of the individual during the exposure the very mild and most common form of fluor￭ osis is characterized by small opaque paper white areas scattered ir￭ regularly over the tooth covering less than 25 of the tooth surface in the mild form of the disease these mo￭ tt￭ led pat￭ ches can involve up to half of the surface area of the teeth when fluor￭ osis is moderate all of
dental fluor￭ osis also termed mo￭ tt￭ led en￭ am￭ el is an extremely common disorder characterized by hypo￭ miner￭ alization of tooth en￭ am￭ el caused by ing￭ estion of excessive flu￭ oride during en￭ am￭ el formation it appears as a range of visual changes in en￭ am￭ el causing degrees of intrinsic tooth dis￭ color￭ ation and in some cases physical damage to the teeth the severity of the condition is dependent on the dose duration and age of the individual during the exposure the very mild and most common form of fluor￭ osis is characterized by small opaque paper white areas scattered ir￭ regularly over the tooth covering less than 25 of the tooth surface in the mild form of the disease these mo￭ tt￭ led pat￭ ches can involve up to half of the surface area of the teeth when fluor￭ osis is moderate all of the surfaces of the teeth are mo￭ tt￭ led and teeth may be ground down and brown stain￭ s frequently dis￭ figure the teeth severe fluor￭ osis is characterized by brown dis￭ color￭ ation and dis￭ crete or con￭ flu￭ ent pit￭ ting brown stain￭ s are widespread and teeth often present a corro￭ ded looking appearance people with fluor￭ osis are relatively resistant to dental car￭ ies tooth decay caused by bacteria although they may be of cosmetic concern in moderate to severe fluor￭ osis teeth are physically damaged
am￭ elo￭ genesis im￭ perfec￭ ta
am￭ elo￭ genesis im￭ perfec￭ ta ai presents with a rare abnormal formation of the en￭ am￭ el or external layer of the crown of teeth en￭ am￭ el is composed mostly of mineral that is formed and regulated by the proteins in it am￭ elo￭ genesis im￭ perfec￭ ta is due to the mal￭ function of the proteins in the en￭ am￭ el am￭ elo￭ blas￭ tin en￭ am￭ elin tu￭ f￭ tel￭ in and am￭ elo￭ gen￭ in
am￭ elo￭ genesis im￭ perfec￭ ta ai presents with a rare abnormal formation of the en￭ am￭ el or external layer of the crown of teeth en￭ am￭ el is composed mostly of mineral that is formed and regulated by the proteins in it am￭ elo￭ genesis im￭ perfec￭ ta is due to the mal￭ function of the proteins in the en￭ am￭ el am￭ elo￭ blas￭ tin en￭ am￭ elin tu￭ f￭ tel￭ in and am￭ elo￭ gen￭ in people afflicted with am￭ elo￭ genesis im￭ perfec￭ ta have teeth with abnormal color yellow brown or grey this disorder can afflic￭ t any number of teeth of both denti￭ tions the teeth have a higher risk for dental ca￭ vities and are hy￭ pers￭ ensi￭ tive to temperature changes as well as rapid at￭ tri￭ tion excessive calcul￭ us de￭ position and g￭ ing￭ i￭ val hyper￭ pl￭ asia
d￭ ent￭ ino￭ genesis im￭ perfec￭ ta
d￭ ent￭ ino￭ genesis im￭ perfec￭ ta di is a genetic disorder of tooth development this condition is a type of denti￭ n dys￭ pl￭ asia that causes teeth to be dis￭ colored most often a blue gray or yellow brown color and trans￭ luc￭ ent giving teeth an op￭ al￭ es￭ cent she￭ en teeth are also weaker than normal making them prone to rapid wear break￭ age and loss these problems can affect both primary deci￭ duous teeth and permanent teeth this condition is inherited in an auto￭ som￭ al dominant pattern which means one copy of the altered gene in each cell is sufficient to cause the disorder d￭ ent￭ ino￭ genesis im￭ perfec￭ ta affects an estimated 1 in 6 000 to 8 000 people
dental car￭ ies
dental car￭ ies also known as tooth decay ca￭ vities or car￭ ies is a breakdown of teeth due to activities of bacteria the ca￭ vities may be a number of different colors from yellow to black symptoms may include pain and difficulty with eating complications may include infl￭ amm￭ ation of the tissue around the tooth tooth loss and infection or abs￭ c￭ ess formation
acid erosion
acid erosion also known as dental erosion is a type of tooth wear it is defined as the irreversible loss of tooth structure due to chemical dissolution by acids not of bacterial origin dental erosion is the most common chronic disease of children ages 5 – 17 although it is only relatively recently that it has been recognised as a dental health problem there is generally widespread ignorance of the damaging effects of acid erosion this is particularly the case with erosion due to fruit juices because they tend to be seen as healthy erosion is found initially in the en￭ am￭ el and if unchecked may proceed to the underlying denti￭ n
pul￭ pi￭ tis
pul￭ pi￭ tis is infl￭ amm￭ ation of dental pulp tissue the pulp contains the blood vessels the nerves and connec￭ tive tissue inside a tooth and provides the tooth ’ s blood and nutrients pul￭ pi￭ tis is mainly caused by bacteria infection which itself is a secondary development of car￭ ies tooth decay it manifests itself in the form of a tooth￭ ache
g￭ ing￭ i￭ vi￭ tis
g￭ ing￭ i￭ vi￭ tis infl￭ amm￭ ation of the gum tissue is a non destructive disease that occurs around the teeth the most common form of g￭ ing￭ i￭ vi￭ tis and the most common form of period￭ on￭ tal disease overall is in response to bacterial bi￭ of￭ il￭ ms also called pla￭ que that is attached to tooth surfaces termed pla￭ que induced g￭ ing￭ i￭ vi￭ tis while some cases of g￭ ing￭ i￭ vi￭ tis never progress to period￭ on￭ ti￭ tis data indicate that period￭ on￭ ti￭ tis is always preceded by g￭ ing￭ i￭ vi￭ tis
period￭ on￭ ti￭ tis
period￭ on￭ ti￭ tis also known as p￭ yor￭ rhe￭ a is a set of infl￭ am￭ matory diseases affecting the period￭ on￭ tium i e the tissues that surround and support the teeth period￭ on￭ ti￭ tis involves progressive loss of the al￭ ve￭ ol￭ ar bone around the teeth and if left untreated can lead to the loosen￭ ing and subsequent loss of teeth period￭ on￭ ti￭ tis is caused by micro￭ organisms that adhere to and grow on the tooth s surfaces along with an over aggressive immune response against these micro￭ organisms a diagnosis of period￭ on￭ ti￭ tis is established by inspecting the soft gum tissues around the teeth with a probe i e a clinical examination and by evaluating the patient s x ray films i e a radio￭ graphic examination to determine the amount of bone loss around the teeth specialists in the treatment of period￭ on￭ ti￭ ti
g￭ ing￭ i￭ val enlargement
g￭ ing￭ i￭ val enlargement also termed g￭ ing￭ i￭ val over￭ growth hyper￭ troph￭ ic g￭ ing￭ i￭ vi￭ tis g￭ ing￭ i￭ val hyper￭ pl￭ asia or g￭ ing￭ i￭ val hyper￭ tro￭ phy and sometimes abbreviated to go is an increase in the size of the g￭ ing￭ iva g￭ ums it is a common feature of g￭ ing￭ i￭ val disease g￭ ing￭ i￭ val enlargement can be caused by a number of factors including infl￭ am￭ matory conditions and the side effects of certain medications the treatment is based on the cause a closely related term is ep￭ ul￭ is den￭ oting a loc￭ alized tumor i e lump on the g￭ ing￭ iva
ep￭ ul￭ is
retro￭ gn￭ ath￭ ism
cross￭ bite
over￭ bite
over￭ bite medic￭ ally refers to the extent of vertical superior inferior overlap of the max￭ ill￭ ary central incis￭ ors over the man￭ di￭ bul￭ ar central incis￭ ors measured relative to the incis￭ al ri￭ dges the term over￭ bite does not refer to a specific condition nor is it a form of mal￭ oc￭ clu￭ sion rather an absent or excess over￭ bite would be a mal￭ oc￭ clu￭ sion normal over￭ bite is between 3 – 5 mm or approximately 20 – 30 of the height of the man￭ di￭ bul￭ ar incis￭ ors and is commonly expressed as a percentage
mal￭ oc￭ clu￭ sion
a mal￭ oc￭ clu￭ sion is a mis￭ alignment or incorrect relation between the teeth of the two dental ar￭ ches when they approach each other as the ja￭ ws close the term was coined by edward angle the father of modern orth￭ od￭ on￭ tics as a derivative of oc￭ clu￭ sion which refers to the manner in which opposing teeth meet mal oc￭ clu￭ sion incorrect oc￭ clu￭ sion
tempor￭ om￭ andi￭ bul￭ ar joint dysfunction
tempor￭ om￭ andi￭ bul￭ ar joint dysfunction t￭ md t￭ m￭ jd is an umbrella term covering pain and dysfunction of the muscles of mas￭ tication the muscles that move the jaw and the tempor￭ om￭ andi￭ bul￭ ar joints the joints which connect the man￭ di￭ ble to the skull the most important feature is pain followed by restricted man￭ di￭ bul￭ ar movement and noises from the tempor￭ om￭ andi￭ bul￭ ar joints t￭ m￭ j during jaw movement although t￭ md is not life threatening it can be detrimental to quality of life because the symptoms can become chronic and difficult to manage
tempor￭ om￭ andi￭ bul￭ ar joint dysfunction t￭ md t￭ m￭ jd is an umbrella term covering pain and dysfunction of the muscles of mas￭ tication the muscles that move the jaw and the tempor￭ om￭ andi￭ bul￭ ar joints the joints which connect the man￭ di￭ ble to the skull the most important feature is pain followed by restricted man￭ di￭ bul￭ ar movement and noises from the tempor￭ om￭ andi￭ bul￭ ar joints t￭ m￭ j during jaw movement although t￭ md is not life threatening it can be detrimental to quality of life because the symptoms can become chronic and difficult to manage t￭ md is a symptom complex rather than a single condition and it is thought to be caused by multiple factors however these factors are poorly understood and there is disagreement as to their relative importance there are many treatments available although there is a general lack of evidence for any treatment in t￭ md and no widely accepted treatment protocol common treatments include provision of oc￭ cl￭ usal spl￭ in￭ ts psycho￭ social interventions like cognitive behavioral therapy and pain medication or others most sources agree that no irreversible treatment should be carried out for t￭ md about 20 to 30 of the adult population are affected to some degree usually people affected by t￭ md are between 20 and 40 years of age and it is more common in females than males t￭ md is the second most frequent cause of oro￭ facial pain after dental pain i e tooth￭ ache
tooth￭ ache
tooth￭ ache also known as dental pain is pain in the teeth and or their supporting structures caused by dental diseases or pain referred to the teeth by non dental diseases common causes include infl￭ amm￭ ation of the pulp usually in response to tooth decay dental trauma or other factors denti￭ n hy￭ pers￭ ensi￭ tivity short sharp pain usually associated with exposed root surfaces ap￭ ical period￭ on￭ ti￭ tis infl￭ amm￭ ation of the period￭ on￭ tal lig￭ ament and al￭ ve￭ ol￭ ar bone around the root ap￭ ex dental abs￭ c￭ esses loc￭ alized collections of p￭ us such as ap￭ ical abs￭ c￭ ess peric￭ or￭ onal abs￭ c￭ ess and period￭ on￭ tal abs￭ c￭ ess al￭ ve￭ ol￭ ar ost￭ ei￭ tis dry socket a possible complic￭ ation of tooth extraction with loss of the blood clo￭ t and exposure of bone acute necro￭ tizing ul￭ cer￭ ative g￭ ing￭ i￭ vi￭ tis a gum infection also c
tor￭ us man￭ di￭ bul￭ aris
tor￭ us man￭ di￭ bul￭ aris pl tori man￭ di￭ bul￭ ares or man￭ di￭ bul￭ ar tor￭ us pl man￭ di￭ bul￭ ar tori in english is a bon￭ y growth in the man￭ di￭ ble along the surface nearest to the tongue man￭ di￭ bul￭ ar tori are usually present near the pre￭ mol￭ ars and above the location of the my￭ lo￭ hy￭ o￭ id muscle s attachment to the man￭ di￭ ble in 90 of cases there is a tor￭ us on both the left and right sides making this finding an overwhelmingly bilateral condition
tor￭ us pal￭ at￭ in￭ us
tor￭ us pal￭ at￭ in￭ us pl tori pal￭ at￭ in￭ us pal￭ at￭ in￭ us tor￭ us pl pal￭ atal tori in english is a bon￭ y pro￭ tru￭ sion on the pal￭ ate pal￭ atal tori are usually present on the mid￭ line of the hard pal￭ ate most pal￭ atal tori are less than 2 cm in diameter but their size can change throughout life pal￭ atal tori are usually a clinical finding with no treatment necessary it is possible for ul￭ cers to form on the area of the tori due to repeated trauma also the tori may complicate the fabric￭ ation of d￭ ent￭ ures if removal of the tori is needed surgery can be done to reduce the amount of bone present
al￭ ve￭ ol￭ ar ost￭ ei￭ tis
al￭ ve￭ ol￭ ar ost￭ ei￭ tis is infl￭ amm￭ ation of the al￭ ve￭ ol￭ ar bone i e the al￭ ve￭ ol￭ ar process of the max￭ illa or man￭ di￭ ble class￭ ically this occurs as a post￭ operative complic￭ ation of tooth extraction al￭ ve￭ ol￭ ar ost￭ ei￭ tis usually occurs where the blood clo￭ t fails to form or is lost from the socket i e the defect left in the gum when a tooth is taken out this leaves an empty socket where bone is exposed to the oral cav￭ ity causing a loc￭ alized al￭ ve￭ ol￭ ar ost￭ ei￭ tis limited to the lam￭ ina dur￭ a i e the bone which lines the socket this specific type of al￭ ve￭ ol￭ ar ost￭ ei￭ tis is also known as dry socket or less commonly fi￭ brin￭ ol￭ y￭ tic al￭ ve￭ oli￭ tis and is associated with increased pain and delayed healing time
al￭ ve￭ ol￭ ar ost￭ ei￭ tis is infl￭ amm￭ ation of the al￭ ve￭ ol￭ ar bone i e the al￭ ve￭ ol￭ ar process of the max￭ illa or man￭ di￭ ble class￭ ically this occurs as a post￭ operative complic￭ ation of tooth extraction al￭ ve￭ ol￭ ar ost￭ ei￭ tis usually occurs where the blood clo￭ t fails to form or is lost from the socket i e the defect left in the gum when a tooth is taken out this leaves an empty socket where bone is exposed to the oral cav￭ ity causing a loc￭ alized al￭ ve￭ ol￭ ar ost￭ ei￭ tis limited to the lam￭ ina dur￭ a i e the bone which lines the socket this specific type of al￭ ve￭ ol￭ ar ost￭ ei￭ tis is also known as dry socket or less commonly fi￭ brin￭ ol￭ y￭ tic al￭ ve￭ oli￭ tis and is associated with increased pain and delayed healing time dry socket occurs in about 0 5 – 5 of routine dental extr￭ actions and in about 25 – 30 of extr￭ actions of imp￭ acted man￭ di￭ bul￭ ar third mol￭ ars wisdom teeth which are buried in the bone
cher￭ u￭ b￭ ism
cher￭ u￭ b￭ ism is a rare genetic disorder that causes prominence in the lower portion in the face the name is derived from the temporary chu￭ bby chee￭ ked resemblance to pu￭ tti often confused with cher￭ u￭ bs in renaissance paintings
fi￭ bro￭ us dys￭ pl￭ asia of bone
fi￭ bro￭ us dys￭ pl￭ asia is a disorder where normal bone and marrow is replaced with fi￭ bro￭ us tissue resulting in formation of bone that is weak and prone to expansion as a result most complications result from frac￭ ture de￭ form￭ ity functional impairment and pain disease occurs along a broad clinical spectrum ranging from as￭ ymp￭ tomatic incidental le￭ sions to severe disab￭ ling disease disease can affect one bone mono￭ sto￭ tic or multiple poly￭ o￭ sto￭ tic and may occur in isolation or in combination with cafe au la￭ it skin mac￭ ules and hyper￭ functioning endocr￭ in￭ opath￭ ies termed mc￭ c￭ une al￭ bright syndrome more rarely fi￭ bro￭ us dys￭ pl￭ asia may be associated with intr￭ amus￭ cular my￭ x￭ om￭ as termed ma￭ zab￭ r￭ aud s syndrome fi￭ bro￭ us dys￭ pl￭ asia is very rare and there is no known cure fi￭ bro￭ us dys￭ pl￭ asia is not a form of c
si￭ alo￭ li￭ thi￭ asis
si￭ alo￭ li￭ thi￭ asis also termed sali￭ vary calcul￭ i or sali￭ vary stones is a condition where a calci￭ fied mass or si￭ alo￭ li￭ th forms within a sali￭ vary g￭ land usually in the duc￭ t of the sub￭ man￭ di￭ bul￭ ar g￭ land also termed wh￭ ar￭ ton s duc￭ t less commonly the par￭ o￭ ti￭ d g￭ land or rarely the su￭ bl￭ ing￭ ual g￭ land or a minor sali￭ vary g￭ land may develop sali￭ vary stones
oral mu￭ co￭ ce￭ le
oral mu￭ co￭ ce￭ le also termed mu￭ co￭ us retention cyst mu￭ co￭ us extr￭ av￭ as￭ ation cyst mu￭ co￭ us cyst of the oral mu￭ co￭ sa and mu￭ co￭ us retention and extr￭ av￭ as￭ ation phenomena is a clinical term that refers to two related phenomena m￭ uc￭ us extr￭ av￭ as￭ ation phenomenon m￭ uc￭ us retention cyst although the term cyst is often used to refer to these le￭ sions mu￭ co￭ cel￭ es are not strictly speaking true cy￭ sts because there is no epi￭ the￭ li￭ al lining rather it would be more accurate to classify mu￭ co￭ cel￭ es as poly￭ ps i e a lump
oral mu￭ co￭ ce￭ le also termed mu￭ co￭ us retention cyst mu￭ co￭ us extr￭ av￭ as￭ ation cyst mu￭ co￭ us cyst of the oral mu￭ co￭ sa and mu￭ co￭ us retention and extr￭ av￭ as￭ ation phenomena is a clinical term that refers to two related phenomena m￭ uc￭ us extr￭ av￭ as￭ ation phenomenon m￭ uc￭ us retention cyst the former is a sw￭ elling of connec￭ tive tissue consisting of a collection of fluid called m￭ uc￭ in this occurs because of a rup￭ tured sali￭ vary g￭ land duc￭ t usually caused by local trauma damage in the case of m￭ uc￭ us extr￭ av￭ as￭ ation phenomenon and an obstructed or rup￭ tured sali￭ vary duc￭ t par￭ o￭ ti￭ d duc￭ t in the case of a m￭ uc￭ us retention cyst the mu￭ co￭ ce￭ le has a blu￭ ish trans￭ luc￭ ent color and is more commonly found in children and young adults although the term cyst is often used to refer to these le￭ sions mu￭ co￭ cel￭ es are not strictly speaking true cy￭ sts because there is no epi￭ the￭ li￭ al lining rather it would be more accurate to classify mu￭ co￭ cel￭ es as poly￭ ps i e a lump
ran￭ ula
a ran￭ ula is a type of mu￭ co￭ ce￭ le found on the floor of the mouth ran￭ ul￭ as present as a sw￭ elling of connec￭ tive tissue consisting of collected m￭ uc￭ in from a rup￭ tured sali￭ vary g￭ land caused by local trauma if small and as￭ ymp￭ tomatic further treatment may not be needed otherwise minor oral surgery may be indicated
x￭ ero￭ stom￭ ia
x￭ ero￭ stom￭ ia also termed dry mouth as a symptom or dry mouth syndrome as a syndrome is dr￭ y￭ ness in the mouth x￭ ero stom ia which may be associated with a change in the composition of sali￭ va or reduced sali￭ vary flow hy￭ pos￭ ali￭ vation or have no identifiable cause
benign lymp￭ ho￭ epi￭ the￭ li￭ al le￭ sion
benign lymp￭ ho￭ epi￭ the￭ li￭ al le￭ sion is a type of benign enlargement of the par￭ o￭ ti￭ d and or lac￭ ri￭ mal g￭ lands this patho￭ logic state is sometimes but not always associated with sjö￭ gre￭ n s syndrome
stom￭ ati￭ tis
stom￭ ati￭ tis is infl￭ amm￭ ation of the mouth and lips it refers to any infl￭ am￭ matory process affecting the mu￭ co￭ us memb￭ ran￭ es of the mouth and lips with or without oral ul￭ cer￭ ation in its widest meaning stom￭ ati￭ tis can have a multitude of different causes and appearances common causes include infections nutritional deficiencies allergic reactions radi￭ otherapy and many others when infl￭ amm￭ ation of the g￭ ums and the mouth generally presents itself sometimes the term g￭ ing￭ ivo￭ stom￭ ati￭ tis is used though this is also sometimes used as a synon￭ ym for her￭ pe￭ tic g￭ ing￭ ivo￭ stom￭ ati￭ tis
aph￭ th￭ ous stom￭ ati￭ tis
aph￭ th￭ ous stom￭ ati￭ tis is a common condition characterized by the repeated formation of benign and non contagious mouth ul￭ cers aph￭ th￭ ae in otherwise healthy individuals the informal term can￭ ker so￭ res is also used mainly in north america although this may also refer to any mouth ul￭ cer the cause is not completely understood but involves a t cell medi￭ ated immune response triggered by a variety of factors different individuals have different triggers which may include nutritional deficiencies local trauma stress hormonal influences allergies genetic pre￭ disposition or other factors
aph￭ th￭ ous stom￭ ati￭ tis is a common condition characterized by the repeated formation of benign and non contagious mouth ul￭ cers aph￭ th￭ ae in otherwise healthy individuals the informal term can￭ ker so￭ res is also used mainly in north america although this may also refer to any mouth ul￭ cer the cause is not completely understood but involves a t cell medi￭ ated immune response triggered by a variety of factors different individuals have different triggers which may include nutritional deficiencies local trauma stress hormonal influences allergies genetic pre￭ disposition or other factors these ul￭ cers occur periodically and heal completely between attacks in the majority of cases the individual ul￭ cers last about 7 – 10 days and ul￭ cer￭ ation episodes occur 3 – 6 times per year most appear on the non ker￭ at￭ ini￭ zing epi￭ the￭ li￭ al surfaces in the mouth i e anywhere except the attached g￭ ing￭ iva the hard pal￭ ate and the dor￭ sum of the tongue although the more severe forms which are less common may also involve ker￭ at￭ ini￭ zing epi￭ the￭ li￭ al surfaces symptoms range from a minor nuisance to interfering with eating and drinking the severe forms may be deb￭ il￭ itating even causing weight loss due to malnutrition the condition is very common affecting about 20 of the general population to some degree the onset is often during childhood or adoles￭ cence and the condition usually lasts for several years before gradually disappearing there is no cure and treatments aim to manage pain reduce healing time and reduce the frequency of episodes of ul￭ cer￭ ation the term is from from greek αφ￭ θα aph￭ tha meaning mouth ul￭ cer
ang￭ ular ch￭ ei￭ li￭ tis
ang￭ ular ch￭ ei￭ li￭ tis ac is infl￭ amm￭ ation of one or both corners of the mouth often the corners are red with skin breakdown and cru￭ sting it can also be it￭ chy or painful the condition can last for days to years ang￭ ular ch￭ ei￭ li￭ tis is a type of ch￭ ei￭ li￭ tis infl￭ amm￭ ation of the lips
ch￭ ei￭ li￭ tis
mor￭ sic￭ ati￭ o buc￭ car￭ um
mor￭ sic￭ ati￭ o buc￭ car￭ um also termed chronic cheek biting and chronic cheek chewing is a condition characterized by chronic irritation or injury to the buc￭ cal mu￭ co￭ sa the lining of the inside of the cheek within the mouth caused by repeti￭ tive chewing biting or ni￭ b￭ bling
leuk￭ op￭ la￭ k￭ ia
leuk￭ op￭ la￭ k￭ ia also termed leu￭ co￭ pl￭ ak￭ ia leuko￭ ker￭ at￭ osis leuk￭ op￭ la￭ sia idi￭ opathic leuk￭ op￭ la￭ k￭ ia idi￭ opathic ker￭ at￭ osis or idi￭ opathic white patch normally refers to a condition where areas of ker￭ at￭ osis appear as firmly attached white pat￭ ches on the mu￭ co￭ us memb￭ ran￭ es of the oral cav￭ ity although the term is sometimes used for white pat￭ ches of other gastro￭ intest￭ inal tract mu￭ cos￭ al sites or mu￭ cos￭ al surfaces of the ur￭ inary tract and gen￭ itals
leuk￭ op￭ la￭ k￭ ia also termed leu￭ co￭ pl￭ ak￭ ia leuko￭ ker￭ at￭ osis leuk￭ op￭ la￭ sia idi￭ opathic leuk￭ op￭ la￭ k￭ ia idi￭ opathic ker￭ at￭ osis or idi￭ opathic white patch normally refers to a condition where areas of ker￭ at￭ osis appear as firmly attached white pat￭ ches on the mu￭ co￭ us memb￭ ran￭ es of the oral cav￭ ity although the term is sometimes used for white pat￭ ches of other gastro￭ intest￭ inal tract mu￭ cos￭ al sites or mu￭ cos￭ al surfaces of the ur￭ inary tract and gen￭ itals leuk￭ op￭ la￭ k￭ ia in the mouth oral leuk￭ op￭ la￭ k￭ ia is defined as a predominantly white le￭ sion of the oral mu￭ co￭ sa that cannot be characterized as any other defin￭ able le￭ sion however this definition is in￭ consistently applied and some refer to any oral white patch as leuk￭ op￭ la￭ k￭ ia leuk￭ op￭ la￭ k￭ ia is a descriptive clinical term that is only correctly used once all other possible causes have been ruled out a diagnosis of exclusion as such leuk￭ op￭ la￭ k￭ ia is not a specific disease entity and the clinical and his￭ to￭ logic appearance are variable i e the term has no specific his￭ to￭ logic implications leuk￭ op￭ la￭ k￭ ia may be confused with other common causes of white pat￭ ches in the mouth such as oral candi￭ di￭ asis or lichen plan￭ us the le￭ sions of leuk￭ op￭ la￭ k￭ ia cannot be rub￭ bed off as would be the case in pseu￭ dom￭ emb￭ ran￭ eous candi￭ di￭ asis oral th￭ rush oral leuk￭ op￭ la￭ k￭ ia more commonly occurs in those who smoke but often the cause is unknown hence the name idi￭ opathic leuk￭ op￭ la￭ k￭ ia chewing tobacco is also associated with this type of le￭ sion leuk￭ op￭ la￭ k￭ ia is a pre￭ m￭ align￭ ant le￭ sion i e a mor￭ pho￭ logically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart the chance of transformation into oral squ￭ am￭ ous cell carcin￭ oma os￭ cc a type of oral cancer varies from almost 0 to about 20 and this may occur over 1 – 30 years the vast majority of oral leuk￭ op￭ la￭ ki￭ as will not turn m￭ align￭ ant however some sub￭ types hold greater risk than others no interventions have been proven to reduce the risk of cancer developing in an area of leuk￭ op￭ la￭ k￭ ia but people are generally advised to stop smoking and limit alcohol consumption to reduce their risk sometimes the white patch will shrink and eventually disappear after stopping smoking but this may take up to a year in many cases areas of leuk￭ op￭ la￭ k￭ ia will slowly expand become more white and thick￭ en if smoking is not stopped management usually involves regular review of the le￭ sion to detect any possible m￭ align￭ ant change early and thereby significantly improve the prog￭ no￭ sis which normally is relatively poor for os￭ cc
ha￭ iry leuk￭ op￭ la￭ k￭ ia
ha￭ iry leuk￭ op￭ la￭ k￭ ia also known as oral ha￭ iry leuk￭ op￭ la￭ k￭ ia o￭ hl or hiv associated ha￭ iry leuk￭ op￭ la￭ k￭ ia is a white patch on the side of the tongue with a corru￭ gated or ha￭ iry appearance it is caused by ep￭ stein bar￭ r virus eb￭ v and occurs usually in persons who are immun￭ o￭ compromised especially those with human immun￭ o￭ deficiency virus infection acquired immun￭ o￭ deficiency syndrome hiv aids this white le￭ sion cannot be scrap￭ ed off the le￭ sion itself is benign and does not require any treatment although its appearance may have diagnostic and prog￭ no￭ s￭ tic implications for the underlying condition
ha￭ iry leuk￭ op￭ la￭ k￭ ia also known as oral ha￭ iry leuk￭ op￭ la￭ k￭ ia o￭ hl or hiv associated ha￭ iry leuk￭ op￭ la￭ k￭ ia is a white patch on the side of the tongue with a corru￭ gated or ha￭ iry appearance it is caused by ep￭ stein bar￭ r virus eb￭ v and occurs usually in persons who are immun￭ o￭ compromised especially those with human immun￭ o￭ deficiency virus infection acquired immun￭ o￭ deficiency syndrome hiv aids this white le￭ sion cannot be scrap￭ ed off the le￭ sion itself is benign and does not require any treatment although its appearance may have diagnostic and prog￭ no￭ s￭ tic implications for the underlying condition depending upon what definition of leuk￭ op￭ la￭ k￭ ia is used ha￭ iry leuk￭ op￭ la￭ k￭ ia is sometimes considered a subtype of leuk￭ op￭ la￭ k￭ ia or a distinct diagnosis
glos￭ si￭ tis
glos￭ si￭ tis can mean so￭ reness of the tongue or more usually infl￭ amm￭ ation with de￭ pap￭ ill￭ ation of the dor￭ sal surface of the tongue loss of the lingual pap￭ il￭ la￭ e leaving a smooth and er￭ y￭ them￭ at￭ ous red￭ dened surface sometimes specifically termed atro￭ ph￭ ic glos￭ si￭ tis in a wider sense glos￭ si￭ tis can mean infl￭ amm￭ ation of the tongue generally glos￭ si￭ tis is often caused by nutritional deficiencies and may be pain￭ less or cause discomfort glos￭ si￭ tis usually responds well to treatment if the cause is identified and corrected tongue so￭ reness caused by glos￭ si￭ tis is differentiated from burning mouth syndrome where there is no identifiable change in the appearance of the tongue and there are no identifiable causes
geographic tongue
geographic tongue also known by several other terms is an infl￭ am￭ matory condition of the mu￭ co￭ us memb￭ rane of the tongue usually on the dor￭ sal surface it is a common condition affecting approximately 2 – 3 of the general population it is characterized by areas of smooth red de￭ pap￭ ill￭ ation loss of lingual pap￭ il￭ la￭ e which migrate over time the name comes from the map like appearance of the tongue with the pat￭ ches resembling the islands of an archipelago the cause is unknown but the condition is entirely benign importantly it does not represent oral cancer and there is no cur￭ ative treatment un￭ commonly geographic tongue may cause a burning sensation on the tongue for which various treatments have been described with little formal evidence of efficacy
black ha￭ iry tongue
f￭ issu￭ red tongue
burning mouth syndrome
burning mouth syndrome bms is the complaint of a burning sensation in the mouth where no underlying dental or medical cause can be identified and no signs found in the mouth burning mouth syndrome may also comprise subjective x￭ ero￭ stom￭ ia a dry mouth sensation where no cause can be found such as reduced sali￭ vary flow oral par￭ a￭ esthesia e g ting￭ ling and altered taste or smell dys￭ g￭ eu￭ sia and dy￭ so￭ smi￭ a
es￭ op￭ ha￭ gi￭ tis
es￭ op￭ ha￭ gi￭ tis or o￭ es￭ op￭ ha￭ gi￭ tis is infl￭ amm￭ ation of the es￭ op￭ ha￭ gus it may be acute or chronic acute es￭ op￭ ha￭ gi￭ tis can be cat￭ arr￭ hal or ph￭ leg￭ mon￭ ous whereas chronic es￭ op￭ ha￭ gi￭ tis may be hyper￭ troph￭ ic or atro￭ ph￭ ic
gastro￭ es￭ op￭ ha￭ ge￭ al ref￭ lux disease
gastro￭ es￭ op￭ ha￭ ge￭ al ref￭ lux disease ger￭ d also known as acid ref￭ lux is a long term condition where stomach contents come back up into the es￭ op￭ ha￭ gus resulting in either symptoms or complications symptoms include the taste of acid in the back of the mouth heart￭ burn bad breath chest pain v￭ om￭ iting breathing problems and wearing away of the teeth complications include es￭ op￭ ha￭ gi￭ tis es￭ op￭ ha￭ ge￭ al stric￭ tures and bar￭ rett s es￭ op￭ ha￭ gus
ac￭ hal￭ asia
ac￭ hal￭ asia e￭ ɪ￭ k￭ ə￭ ˈ￭ le￭ ɪ￭ ʒ￭ ə a chal￭ asia no relaxation is a failure of smooth muscle fi￭ bers to relax which can cause a sp￭ h￭ inc￭ ter to remain closed and fail to open when needed without a modi￭ fier ac￭ hal￭ asia usually refers to ac￭ hal￭ asia of the es￭ op￭ ha￭ gus which is also called es￭ op￭ ha￭ ge￭ al ac￭ hal￭ asia ac￭ hal￭ asia cardi￭ ae cardi￭ o￭ sp￭ asm and es￭ op￭ ha￭ ge￭ al aper￭ ist￭ al￭ sis ac￭ hal￭ asia can happen at various points along the gastro￭ intest￭ inal tract ac￭ hal￭ asia of the rec￭ tum for instance in hir￭ sch￭ sp￭ rung s disease
bo￭ er￭ ha￭ ave syndrome
es￭ op￭ ha￭ ge￭ al rupture is a rupture of the es￭ op￭ ha￭ ge￭ al wall i￭ atro￭ genic causes account for approximately 56 of es￭ op￭ ha￭ ge￭ al per￭ for￭ ations usually due to medical instrum￭ entation such as an endo￭ sco￭ py or par￭ a￭ es￭ op￭ ha￭ ge￭ al surgery in contrast the term bo￭ er￭ ha￭ ave s syndrome is reserved for the 10 of es￭ op￭ ha￭ ge￭ al per￭ for￭ ations which occur due to v￭ om￭ iting
es￭ op￭ ha￭ ge￭ al rupture is a rupture of the es￭ op￭ ha￭ ge￭ al wall i￭ atro￭ genic causes account for approximately 56 of es￭ op￭ ha￭ ge￭ al per￭ for￭ ations usually due to medical instrum￭ entation such as an endo￭ sco￭ py or par￭ a￭ es￭ op￭ ha￭ ge￭ al surgery in contrast the term bo￭ er￭ ha￭ ave s syndrome is reserved for the 10 of es￭ op￭ ha￭ ge￭ al per￭ for￭ ations which occur due to v￭ om￭ iting spontaneous per￭ for￭ ation of the es￭ op￭ ha￭ gus most commonly results from a full thickness tear in the es￭ op￭ ha￭ ge￭ al wall due to a sudden increase in intra￭ es￭ op￭ ha￭ ge￭ al pressure combined with relatively negative intra￭ thor￭ ac￭ ic pressure caused by str￭ aining or v￭ om￭ iting effort rupture of the es￭ op￭ ha￭ gus or bo￭ er￭ ha￭ ave s syndrome other causes of spontaneous per￭ for￭ ation include caus￭ tic ing￭ estion pill es￭ op￭ ha￭ gi￭ tis bar￭ rett s es￭ op￭ ha￭ gus infectious ul￭ cers in patients with aids and following dil￭ ation of es￭ op￭ ha￭ ge￭ al stric￭ tures in most cases of bo￭ er￭ ha￭ ave s syndrome the tear occurs at the left poster￭ o lateral aspect of the dis￭ tal es￭ op￭ ha￭ gus and extends for several centi￭ meters the condition is associated with high morbi￭ dity and mortality and is fatal without treatment the occasionally non￭ specific nature of the symptoms may contribute to a delay in diagnosis and a poor outcome spontaneous effort rupture of the cer￭ vic￭ al es￭ op￭ ha￭ gus leading to loc￭ alized cer￭ vic￭ al per￭ for￭ ation may be more common than previously recognized and has a generally benign course pre￭ existing es￭ op￭ ha￭ ge￭ al disease is not a prerequisite for es￭ op￭ ha￭ ge￭ al per￭ for￭ ation but it contributes to increased mortality this condition was first documented by the 18 th century physician herman bo￭ er￭ ha￭ ave after whom it is named a related condition is mall￭ ory we￭ iss syndrome which is only a mu￭ cos￭ al tear in case of i￭ atro￭ genic per￭ for￭ ation common site is cer￭ vic￭ al es￭ op￭ ha￭ gus just above the upper sp￭ h￭ inc￭ ter where as spontaneous rupture as seen in bo￭ er￭ ha￭ ave s syndrome per￭ for￭ ation commonly occurs in the lower 1 3 rd of es￭ op￭ ha￭ gus
diffuse es￭ op￭ ha￭ ge￭ al sp￭ asm
diffuse es￭ op￭ ha￭ ge￭ al sp￭ asm des is a condition characterized by uncoordinated contr￭ actions of the es￭ op￭ ha￭ gus which may cause difficulty sw￭ allowing dy￭ sp￭ ha￭ gia or reg￭ urg￭ itation in some cases it may causes symptoms such as chest pain similar to heart disease the cause of des remains unknown
nut￭ cracker es￭ op￭ ha￭ gus
nut￭ cracker es￭ op￭ ha￭ gus or hyper￭ ten￭ sive per￭ ist￭ al￭ sis is a disorder of the movement of the es￭ op￭ ha￭ gus characterized by contr￭ actions in the smooth muscle of the es￭ op￭ ha￭ gus in a normal sequence but at an excessive am￭ pl￭ itude or duration nut￭ cracker es￭ op￭ ha￭ gus is one of several mo￭ ti￭ lity disorders of the es￭ op￭ ha￭ gus including ac￭ hal￭ asia and diffuse es￭ op￭ ha￭ ge￭ al sp￭ asm it causes difficulty sw￭ allowing or dy￭ sp￭ ha￭ gia to both solid and liquid foods and can cause significant chest pain it may also be as￭ ymp￭ tomatic nut￭ cracker es￭ op￭ ha￭ gus can affect people of any age but is more common in the sixth and seventh decades of life the diagnosis is made by an es￭ op￭ ha￭ ge￭ al mo￭ ti￭ lity study es￭ op￭ ha￭ ge￭ al man￭ ome￭ try which evalu￭ ates the pressure of the es￭ op￭ ha￭ gus at various points along its length the term nut￭ cracker es￭ op￭ h
zen￭ ker s diver￭ ticul￭ um
a zen￭ ker s diver￭ ticul￭ um also phar￭ yn￭ go￭ es￭ op￭ ha￭ ge￭ al diver￭ ticul￭ um also phar￭ yn￭ ge￭ al p￭ ouch also hypo￭ phar￭ yn￭ ge￭ al diver￭ ticul￭ um is a diver￭ ticul￭ um of the mu￭ co￭ sa of the phar￭ yn￭ x just above the cri￭ cop￭ har￭ yn￭ ge￭ al muscle i e above the upper sp￭ h￭ inc￭ ter of the es￭ op￭ ha￭ gus it is a pseudo diver￭ ticul￭ um not involving all layers of the es￭ op￭ ha￭ ge￭ al wall it was named in 18￭ 77 by german patho￭ logist friedrich albert von zen￭ ker
mall￭ ory – we￭ iss syndrome
mall￭ ory – we￭ iss syndrome or ga￭ stro es￭ op￭ ha￭ ge￭ al lac￭ eration syndrome refers to bleeding from a lac￭ eration in the mu￭ co￭ sa at the junction of the stomach and es￭ op￭ ha￭ gus this is usually caused by severe v￭ om￭ iting because of alcoholism or bu￭ li￭ mia but can be caused by any conditions which causes violent v￭ om￭ iting and ret￭ ching such as food poisoning the syndrome presents with painful hem￭ at￭ em￭ esis the lac￭ eration is sometimes referred to as a mall￭ ory we￭ iss tear
bar￭ rett s es￭ op￭ ha￭ gus
bar￭ rett s es￭ op￭ ha￭ gus british english bar￭ rett s o￭ es￭ op￭ ha￭ gus sometimes called bar￭ rett syndrome bar￭ rett es￭ op￭ ha￭ gus or colum￭ nar epi￭ the￭ lium lined lower o￭ es￭ op￭ ha￭ gus cell￭ o refers to an abnormal change met￭ ap￭ la￭ sia in the cells of the lower portion of the es￭ op￭ ha￭ gus it is characterized by the replacement of the normal str￭ ati￭ fied squ￭ am￭ ous epi￭ the￭ lium lining of the es￭ op￭ ha￭ gus by simple colum￭ nar epi￭ the￭ lium with gob￭ let cells which are usually found lower in the gastro￭ intest￭ inal tract the medical significance of bar￭ rett s es￭ op￭ ha￭ gus is its strong association about 0 5 per patient year with es￭ op￭ ha￭ ge￭ al aden￭ o￭ carcin￭ oma a very often deadly cancer because of which it is considered to be a pre￭ m￭ align￭ ant condition
bar￭ rett s es￭ op￭ ha￭ gus british english bar￭ rett s o￭ es￭ op￭ ha￭ gus sometimes called bar￭ rett syndrome bar￭ rett es￭ op￭ ha￭ gus or colum￭ nar epi￭ the￭ lium lined lower o￭ es￭ op￭ ha￭ gus cell￭ o refers to an abnormal change met￭ ap￭ la￭ sia in the cells of the lower portion of the es￭ op￭ ha￭ gus it is characterized by the replacement of the normal str￭ ati￭ fied squ￭ am￭ ous epi￭ the￭ lium lining of the es￭ op￭ ha￭ gus by simple colum￭ nar epi￭ the￭ lium with gob￭ let cells which are usually found lower in the gastro￭ intest￭ inal tract the medical significance of bar￭ rett s es￭ op￭ ha￭ gus is its strong association about 0 5 per patient year with es￭ op￭ ha￭ ge￭ al aden￭ o￭ carcin￭ oma a very often deadly cancer because of which it is considered to be a pre￭ m￭ align￭ ant condition the main cause of bar￭ rett s es￭ op￭ ha￭ gus is thought to be an adaptation to chronic acid exposure from ref￭ lux es￭ op￭ ha￭ gi￭ tis the incidence of es￭ op￭ ha￭ ge￭ al aden￭ o￭ carcin￭ oma has increased substantially in the western world in recent years the condition is found in 5 – 15 of patients who seek medical care for heart￭ burn gastro￭ es￭ op￭ ha￭ ge￭ al ref￭ lux disease although a large sub￭ group of patients with bar￭ rett s es￭ op￭ ha￭ gus do not have symptoms diagnosis requires endo￭ sco￭ py more specifically es￭ op￭ ha￭ go￭ gastro￭ du￭ o￭ den￭ o￭ sco￭ py a procedure in which a fi￭ bre￭ op￭ tic cable is inserted through the mouth to examine the es￭ op￭ ha￭ gus stomach and du￭ o￭ den￭ um and biopsy the cells of bar￭ rett s es￭ op￭ ha￭ gus after biopsy are classified into four general categories non￭ dys￭ plastic low grade dys￭ pl￭ asia high grade dys￭ pl￭ asia and frank carcin￭ oma high grade dys￭ pl￭ asia and early stages of aden￭ o￭ carcin￭ oma can be treated by endo￭ scopic res￭ ection and new endo￭ scopic therapies such as radi￭ of￭ requ￭ ency ab￭ l￭ ation whereas advanced stages sub￭ mu￭ cos￭ al are generally advised to undergo surgical treatment non￭ dys￭ plastic and low grade patients are generally advised to undergo annual observation with endo￭ sco￭ py with radi￭ of￭ requ￭ ency ab￭ l￭ ation as a therapeutic option in high grade dys￭ pl￭ asia the risk of developing cancer might be at 10 per patient year or greater the condition is named after the australian born british thor￭ ac￭ ic surgeon norman bar￭ rett 19￭ 03 – 1979 who described it in 1950
die￭ ul￭ af￭ oy s le￭ sion
die￭ ul￭ af￭ oy s le￭ sion ex￭ ul￭ cer￭ ati￭ o simpl￭ ex die￭ ul￭ af￭ oy is a medical condition characterized by a large tor￭ tuous arter￭ io￭ le most commonly in the stomach wall sub￭ mu￭ cos￭ al that ero￭ des and ble￭ eds it can present in any part of the gastro￭ intest￭ inal tract it can cause ga￭ str￭ ic hemorrha￭ ge but is relatively un￭ common it is thought to cause less than 5 of all gastro￭ intest￭ inal ble￭ eds in adults it was named after french surgeon paul georg￭ es die￭ ul￭ af￭ oy who described this condition in his paper ex￭ ul￭ cer￭ ati￭ o simpl￭ ex le￭ ç￭ ons 1 3 in 1898 it is also called cali￭ ber persistent artery or an￭ eur￭ ys￭ m of ga￭ str￭ ic vessels however unlike most other an￭ eur￭ ys￭ ms these are thought to be developmental mal￭ formations rather than degenerative changes
pe￭ ptic ul￭ cer
pe￭ ptic ul￭ cer disease pu￭ d also known as a pe￭ ptic ul￭ cer or stomach ul￭ cer is a break in the lining of the stomach first part of the small intest￭ ine or occasionally the lower es￭ op￭ ha￭ gus an ul￭ cer in the stomach is known as a ga￭ str￭ ic ul￭ cer while that in the first part of the intest￭ ines is known as a du￭ o￭ den￭ al ul￭ cer the most common symptoms are waking at night with upper ab￭ domin￭ al pain or upper ab￭ domin￭ al pain that improves with eating the pain is often described as a burning or dull ache other symptoms include bel￭ ching v￭ om￭ iting weight loss or poor appetite about a third of older people have no symptoms complications may include bleeding per￭ for￭ ation and block￭ age of the stomach bleeding occurs in as many as 15 of people
gast￭ ri￭ tis
gast￭ ri￭ tis is infl￭ amm￭ ation of the lining of the stomach it may occur as a short episode or may be of a long duration the most common symptom is upper ab￭ domin￭ al pain other symptoms include naus￭ ea and v￭ om￭ iting blo￭ ating loss of appetite and heart￭ burn others may have no symptoms complications may include bleeding stomach ul￭ cers and stomach tumors when due to auto￭ immune problems low red blood cells due to not enough vitamin b 12 may occur a condition known as pernicious an￭ emia
m￭ éné￭ tri￭ er s disease
du￭ o￭ deni￭ tis
du￭ o￭ deni￭ tis is infl￭ amm￭ ation of the du￭ o￭ den￭ um it may persist acutely or chronically
stomach disease
the stomach is an important organ in the body it plays a vital role in dig￭ estion of foods releases various enzymes and also protects the lower intest￭ ine from harmful organisms the stomach connects to the es￭ op￭ ha￭ gus above and to the small intest￭ ine below it is in￭ tric￭ ately related to the pan￭ cre￭ as sp￭ leen and liver the stomach does vary in size but its j shape is constant the stomach lies in the upper part of the ab￭ dom￭ en just below the left ri￭ b cage gast￭ ri￭ tis and stomach cancer can be caused by heli￭ co￭ bac￭ ter p￭ yl￭ ori infection
p￭ yl￭ or￭ ic sten￭ osis
p￭ yl￭ or￭ ic sten￭ osis or p￭ yl￭ or￭ osten￭ osis is narrowing sten￭ osis of the opening from the stomach to the first part of the small intest￭ ine known as the du￭ o￭ den￭ um due to enlargement hyper￭ tro￭ phy of the muscle surrounding this opening the p￭ yl￭ or￭ us meaning gate which sp￭ as￭ ms when the stomach emp￭ ties this condition causes severe projec￭ tile non bi￭ li￭ ous v￭ om￭ iting it most often occurs in the first few months of life when it may thus be more specifically labeled as inf￭ anti￭ le hyper￭ troph￭ ic p￭ yl￭ or￭ ic sten￭ osis the thick￭ ened p￭ yl￭ or￭ us is felt class￭ ically as an olive shaped mass in the middle upper part or right upper quad￭ rant of the infant s ab￭ dom￭ en in p￭ yl￭ or￭ ic sten￭ osis it is uncertain whether there is a true con￭ genital an￭ atomic narrowing or whether there is merely a functional hyper￭ tro￭ phy of the p￭ yl￭ or￭ ic
i￭ le￭ us
i￭ le￭ us is a disruption of the normal pro￭ pul￭ sive ability of the gastro￭ intest￭ inal tract although i￭ le￭ us originally referred to any lack of dig￭ estive propulsion including bo￭ wel obstruction up to date medical usage restricts its meaning to those disruptions caused by the failure of per￭ ist￭ al￭ sis rather than by mechanical obstruction although certain older terms such as gall￭ stone i￭ le￭ us and me￭ con￭ ium i￭ le￭ us persist in usage they are now mis￭ no￭ mers which does not mean that they are incorrect or obsolete but rather that they are known to not sound like what they really are
ga￭ str￭ ic an￭ tr￭ al vascular ec￭ ta￭ sia
ga￭ str￭ ic an￭ tr￭ al vascular ec￭ ta￭ sia gave is an un￭ common cause of chronic gastro￭ intest￭ inal bleeding or iron deficiency an￭ emia the condition is associated with dil￭ ated small blood vessels in the an￭ tr￭ um or the last part of the stomach the dil￭ ated vessels result in intest￭ inal bleeding it is also called water￭ mel￭ on stomach because stre￭ aky long red areas that are present in the stomach may resemble the markings on water￭ mel￭ on
ga￭ str￭ ic an￭ tr￭ al vascular ec￭ ta￭ sia gave is an un￭ common cause of chronic gastro￭ intest￭ inal bleeding or iron deficiency an￭ emia the condition is associated with dil￭ ated small blood vessels in the an￭ tr￭ um or the last part of the stomach the dil￭ ated vessels result in intest￭ inal bleeding it is also called water￭ mel￭ on stomach because stre￭ aky long red areas that are present in the stomach may resemble the markings on water￭ mel￭ on the condition was first discovered in 1952 and reported in the literature in 1953 water￭ mel￭ on disease was first diagnosed by wheel￭ er et al in 1979 and definitively described in four living patients by jab￭ bari et al only in 1984 as of 2011 the cause and patho￭ genesis are still not known however there are several competing hypo￭ theses as to various causes
ach￭ lor￭ hy￭ dri￭ a
gastro￭ pa￭ res￭ is
gastro￭ pa￭ res￭ is g￭ p ga￭ stro from ancient greek γ￭ α￭ στ￭ ή￭ ρ g￭ aster stomach and π￭ άρ￭ ε￭ σ￭ ις pa￭ res￭ is partial paralysis also called delayed ga￭ str￭ ic emp￭ tying is a medical condition consisting of a pa￭ res￭ is partial paralysis of the stomach resulting in food remaining in the stomach for an abnormally long time normally the stomach contracts to move food down into the small intest￭ ine for additional dig￭ estion the vag￭ us nerve controls these contr￭ actions gastro￭ pa￭ res￭ is may occur when the vag￭ us nerve is damaged and the muscles of the stomach and intest￭ ines do not properly function food then moves slowly or stops moving through the dig￭ estive tract
ga￭ str￭ ic vol￭ vul￭ us
ga￭ str￭ ic vol￭ vul￭ us or vol￭ vul￭ us of stomach is a tw￭ isting of all or part of the stomach by more than 180 degrees with obstruction of the flow of material through the stomach variable loss of blood supply and possible tissue death the tw￭ isting can occur around the long axis of the stomach this is called organ￭ o￭ ax￭ ial or around the axis per￭ pend￭ icular to this called mes￭ enter￭ o￭ ax￭ ial obstruction is more likely in organ￭ o￭ ax￭ ial tw￭ isting than with mes￭ enter￭ o￭ ax￭ ial while the latter is more associated with is￭ chem￭ ia about one third of the cases are associated with a hi￭ atus her￭ nia treatment is surgical
append￭ ic￭ i￭ tis
append￭ ic￭ i￭ tis is infl￭ amm￭ ation of the appendix append￭ ic￭ i￭ tis commonly presents with right lower ab￭ domin￭ al pain naus￭ ea v￭ om￭ iting and decreased appetite however approximately 40 of people do not have these typical signs and symptoms severe complications of a rup￭ tured appendix include widespread painful infl￭ amm￭ ation of the inner lining of the ab￭ domin￭ al wall and sep￭ sis
fe￭ co￭ li￭ th
int￭ us￭ suscep￭ tion medical disorder
ingu￭ inal her￭ nia
an ingu￭ inal her￭ nia is a pro￭ tru￭ sion of ab￭ domin￭ al cav￭ ity contents through the ingu￭ inal canal symptoms are present in about 66 of affected people this may include pain or discomfort especially with cou￭ gh￭ ing exercise or bo￭ wel movements often it gets worse throughout the day and improves when lying down a bul￭ ging area may occur that becomes larger when bearing down ingu￭ inal her￭ ni￭ as occur more often on the right than left side the main concern is strang￭ ulation where the blood supply to part of the intest￭ ine is blocked this usually produces severe pain and tender￭ ness of the area
an ingu￭ inal her￭ nia is a pro￭ tru￭ sion of ab￭ domin￭ al cav￭ ity contents through the ingu￭ inal canal symptoms are present in about 66 of affected people this may include pain or discomfort especially with cou￭ gh￭ ing exercise or bo￭ wel movements often it gets worse throughout the day and improves when lying down a bul￭ ging area may occur that becomes larger when bearing down ingu￭ inal her￭ ni￭ as occur more often on the right than left side the main concern is strang￭ ulation where the blood supply to part of the intest￭ ine is blocked this usually produces severe pain and tender￭ ness of the area risk factors for the development of a her￭ nia include smoking chronic obstruc￭ tive pul￭ mon￭ ary disease obesity pregnancy per￭ it￭ one￭ al dial￭ ysis coll￭ agen vascular disease and previous open append￭ ec￭ tomy among others her￭ ni￭ as are partly genetic and occur more often in certain families it is unclear if ingu￭ inal her￭ ni￭ as are associated with heavy lifting her￭ ni￭ as can often be diagnosed based on signs and symptoms occasionally medical imaging is used to confirm the diagnosis or rule out other possible causes gro￭ in her￭ ni￭ as that do not cause symptoms in males do not need to be repaired repair however is generally recommended in females due to the higher rate of fem￭ oral her￭ ni￭ as which have more complications if strang￭ ulation occurs immediate surgery is required repair may be done by open surgery or by l￭ apar￭ o￭ scopic surgery open surgery has the benefit of possibly being done under local an￭ esthesia rather than general an￭ esthesia l￭ apar￭ o￭ scopic surgery generally has less pain following the procedure about 27 of males and 3 of females develop a gro￭ in her￭ nia at some time in their life gro￭ in her￭ ni￭ as occur most often before the age of one and after the age of fifty ingu￭ inal fem￭ oral and ab￭ domin￭ al her￭ ni￭ as resulted in 51 000 deaths in 2013 and 55 000 in 1990
her￭ nia
a her￭ nia is the exit of an organ such as the bo￭ wel through the wall of the cav￭ ity in which it normally resides her￭ ni￭ as come in a number of different types most commonly they involve the ab￭ dom￭ en specifically the gro￭ in gro￭ in her￭ ni￭ as are most common of the ingu￭ inal type but may also be fem￭ oral other her￭ ni￭ as include hi￭ atus incis￭ ional and um￭ bil￭ ical her￭ ni￭ as for gro￭ in her￭ ni￭ as symptoms are present in about 66 of people this may include pain or discomfort especially with cou￭ gh￭ ing exercise or going to the toilet often it gets worse throughout the day and improves when lying down a bul￭ ging area may occur that becomes larger when bearing down gro￭ in her￭ ni￭ as occur more often on the right than left side the main concern is strang￭ ulation where the blood supply to part of the bo￭ wel is bl
spi￭ ge￭ lian her￭ nia
a spi￭ ge￭ lian her￭ nia or lateral ven￭ tr￭ al her￭ nia is a her￭ nia through the spi￭ ge￭ lian fas￭ cia which is the ap￭ on￭ euro￭ tic layer between the rec￭ tus ab￭ domin￭ is muscle medi￭ ally and the sem￭ il￭ un￭ ar line lat￭ er￭ ally these are generally inter￭ par￭ ie￭ tal her￭ ni￭ as meaning that they do not lie below the sub￭ cu￭ taneous fat but penetrate between the muscles of the ab￭ domin￭ al wall therefore there is often no notable sw￭ elling spi￭ ge￭ lian her￭ ni￭ as are usually small and therefore risk of strang￭ ulation is high most occur on the right side 4 th – 7 th decade of life compared to other types of her￭ ni￭ as they are rare
hi￭ atus her￭ nia
a hi￭ atus her￭ nia or hi￭ atal her￭ nia is the pro￭ tru￭ sion or her￭ ni￭ ation of the upper part of the stomach into the chest cav￭ ity through the es￭ op￭ ha￭ ge￭ al hi￭ atus because of a tear or weakness in the di￭ aphr￭ ag￭ m the most common cause is obesity the diagnosis is often by endo￭ sco￭ py or medical imaging
cro￭ hn s disease
cro￭ hn s disease is a type of infl￭ am￭ matory bo￭ wel disease i￭ b￭ d that may affect any part of the gastro￭ intest￭ inal tract from mouth to an￭ us signs and symptoms often include ab￭ domin￭ al pain diarr￭ hea which may be bloody if infl￭ amm￭ ation is severe fever and weight loss other complications may occur outside the gastro￭ intest￭ inal tract and include an￭ emia skin r￭ ashes ar￭ thri￭ tis infl￭ amm￭ ation of the eye and feeling tired the skin r￭ ashes may be due to infections as well as py￭ o￭ der￭ ma gan￭ gre￭ no￭ sum or er￭ y￭ them￭ a no￭ do￭ sum bo￭ wel obstruction also commonly occurs and those with the disease are at greater risk of bo￭ wel cancer
cro￭ hn s disease is a type of infl￭ am￭ matory bo￭ wel disease i￭ b￭ d that may affect any part of the gastro￭ intest￭ inal tract from mouth to an￭ us signs and symptoms often include ab￭ domin￭ al pain diarr￭ hea which may be bloody if infl￭ amm￭ ation is severe fever and weight loss other complications may occur outside the gastro￭ intest￭ inal tract and include an￭ emia skin r￭ ashes ar￭ thri￭ tis infl￭ amm￭ ation of the eye and feeling tired the skin r￭ ashes may be due to infections as well as py￭ o￭ der￭ ma gan￭ gre￭ no￭ sum or er￭ y￭ them￭ a no￭ do￭ sum bo￭ wel obstruction also commonly occurs and those with the disease are at greater risk of bo￭ wel cancer cro￭ hn s disease is caused by a combination of environmental immune and bacterial factors in genetically susceptible individuals it results in a chronic infl￭ am￭ matory disorder in which the body s immune system attacks the gastro￭ intest￭ inal tract possibly directed at micro￭ bial antigens while cro￭ hn s is an immune related disease it does not appear to be an auto￭ immune disease in that the immune system is not being triggered by the body itself the exact underlying immune problem is not clear however it may be an immun￭ o￭ deficiency state about half of the overall risk is related to genetics with more than 70 genes found to be involved tobacco smokers are two times more likely to develop cro￭ hn s disease than non￭ smokers it also often begins after gastro￭ enter￭ i￭ tis diagnosis is based on a number of findings including biopsy and appearance of the bo￭ wel wall medical imaging and description of the disease other conditions that can present similarly include irrit￭ able bo￭ wel syndrome and beh￭ ç￭ et s disease there are no medications or surgical procedures that can cure cro￭ hn s disease treatment options help with symptoms maintain remission and prevent relap￭ se in those newly diagnosed a cor￭ ti￭ co￭ ster￭ o￭ id may be used for a brief period of time to quickly improve the disease with another medication such as either meth￭ o￭ tre￭ x￭ ate or a thi￭ op￭ urine used to prevent recurrence an important part of treatment is the stopping of smoking among those who do one in five people with the disease are admitted to hospital each year and half of those with the disease will require surgery for the disease at some point over a ten year period while surgery should be used as little as possible it is necessary to address some abs￭ c￭ esses certain bo￭ wel obstruc￭ tions and cancers checking for bo￭ wel cancer via colon￭ o￭ sco￭ py is recommended every few years starting eight years after the disease has begun cro￭ hn s disease affects about 3 2 per 1 000 people in europe and north america it is less common in asia and africa it has historically been more common in the developed world rates have however been increasing particularly in the developing world since the 1970 s infl￭ am￭ matory bo￭ wel disease resulted in 35 000 deaths in 2010 and those with cro￭ hn s disease have a slightly reduced life expectancy it tends to start in the teens and tw￭ en￭ ties although it can occur at any age males and females are equally affected the disease was named after gastro￭ enter￭ o￭ logist bur￭ ri￭ ll bernard cro￭ hn who in 19￭ 32 together with two other colleagues at mount sinai hospital in new york described a series of patients with infl￭ amm￭ ation of the terminal i￭ leum of the small intest￭ ine the area most commonly affected by the illness
co￭ li￭ tis
ul￭ cer￭ ative co￭ li￭ tis
ul￭ cer￭ ative co￭ li￭ tis uc is a long term condition that results in infl￭ amm￭ ation and ul￭ cers of the col￭ on and rec￭ tum the primary symptom of active disease is ab￭ domin￭ al pain and diarr￭ hea mixed with blood weight loss fever and an￭ emia may also occur often symptoms come on slowly and can range from mild to severe symptoms typically occur inter￭ mit￭ tently with periods of no symptoms between fla￭ res complications may include me￭ ga￭ col￭ on infl￭ amm￭ ation of the eye joints or liver and col￭ on cancer
mes￭ enter￭ ic is￭ chem￭ ia
mes￭ enter￭ ic is￭ chem￭ ia is a medical condition in which injury of the small intest￭ ine occurs due to not enough blood supply it can come on suddenly known as acute mes￭ enter￭ ic is￭ chem￭ ia or gradually known as chronic mes￭ enter￭ ic is￭ chem￭ ia acute disease often presents with sudden severe pain symptoms may come on more slowly in those with acute on chronic disease signs and symptoms of chronic disease include ab￭ domin￭ al pain after eating un￭ intentional weight loss v￭ om￭ iting and being afraid of eating
mes￭ enter￭ ic is￭ chem￭ ia is a medical condition in which injury of the small intest￭ ine occurs due to not enough blood supply it can come on suddenly known as acute mes￭ enter￭ ic is￭ chem￭ ia or gradually known as chronic mes￭ enter￭ ic is￭ chem￭ ia acute disease often presents with sudden severe pain symptoms may come on more slowly in those with acute on chronic disease signs and symptoms of chronic disease include ab￭ domin￭ al pain after eating un￭ intentional weight loss v￭ om￭ iting and being afraid of eating risk factors include atri￭ al fi￭ bri￭ ll￭ ation heart failure chronic ren￭ al failure being prone to forming blood clo￭ ts and previous my￭ o￭ cardi￭ al inf￭ arc￭ tion there are four mechanisms by which poor blood flow occurs a blood clo￭ t from elsewhere getting lodged in an artery a new blood clo￭ t forming in an artery a blood clo￭ t forming in the mes￭ enter￭ ic vein and insufficient blood flow due to low blood pressure or sp￭ as￭ ms of arter￭ ies chronic disease is a risk factor for acute disease the best method of diagnosis is an￭ gi￭ o￭ graphy with computer tom￭ o￭ graphy ct being used when that is not available treatment of acute is￭ chem￭ ia may include st￭ enting or medications to break down the clo￭ t provided at the site of obstruction by interventi￭ onal radi￭ ology open surgery may also be used to remove or bypass the obstruction and may be required to remove any intest￭ ines that may have died if not rapidly treated outcomes are often poor among those affected even with treatment the risk of death is 70 to 90 in those with chronic disease bypass surgery is the treatment of choice those who have thro￭ m￭ bo￭ sis of the vein may be treated with anti￭ co￭ ag￭ ulation such as he￭ par￭ in and war￭ far￭ in with surgery used if they do not improve acute mes￭ enter￭ ic is￭ chem￭ ia affects about five per hundred thousand people per year in the developed world chronic mes￭ enter￭ ic is￭ chem￭ ia affects about one per hundred thousand people most people affected are over 60 years old rates are about equal in males and females of the same age mes￭ enter￭ ic is￭ chem￭ ia was first described in 18￭ 95
is￭ chem￭ ic co￭ li￭ tis
is￭ chem￭ ic co￭ li￭ tis also spelled is￭ cha￭ emic co￭ li￭ tis is a medical condition in which infl￭ amm￭ ation and injury of the large intest￭ ine result from inadequate blood supply although un￭ common in the general population is￭ chem￭ ic co￭ li￭ tis occurs with greater frequency in the elderly and is the most common form of bo￭ wel is￭ chem￭ ia causes of the reduced blood flow can include changes in the systemic circulation e g low blood pressure or local factors such as con￭ stric￭ tion of blood vessels or a blood clo￭ t in most cases no specific cause can be identified
is￭ chem￭ ic co￭ li￭ tis also spelled is￭ cha￭ emic co￭ li￭ tis is a medical condition in which infl￭ amm￭ ation and injury of the large intest￭ ine result from inadequate blood supply although un￭ common in the general population is￭ chem￭ ic co￭ li￭ tis occurs with greater frequency in the elderly and is the most common form of bo￭ wel is￭ chem￭ ia causes of the reduced blood flow can include changes in the systemic circulation e g low blood pressure or local factors such as con￭ stric￭ tion of blood vessels or a blood clo￭ t in most cases no specific cause can be identified is￭ chem￭ ic co￭ li￭ tis is usually suspected on the basis of the clinical setting physical examination and laboratory test results the diagnosis can be confirmed via endo￭ sco￭ py or by using sig￭ mo￭ id or endo￭ scopic placement of a visible light spec￭ tro￭ scopic cathe￭ ter see is￭ chem￭ ic co￭ li￭ tis can span a wide spectrum of severity most patients are treated suppor￭ tively and recover fully while a minority with very severe is￭ chem￭ ia may develop sep￭ sis and become critically sometimes fat￭ ally ill patients with mild to moderate is￭ chem￭ ic co￭ li￭ tis are usually treated with iv fluids anal￭ ge￭ sia and bo￭ wel rest that is no food or water by mouth until the symptoms resolve those with severe is￭ chem￭ ia who develop complications such as sep￭ sis intest￭ inal gang￭ rene or bo￭ wel per￭ for￭ ation may require more aggressive interventions such as surgery and intensive care most patients make a full recovery occasionally after severe is￭ chem￭ ia patients may develop long term complications such as a stric￭ ture or chronic co￭ li￭ tis
vol￭ vul￭ us
a vol￭ vul￭ us is when a loop of intest￭ ine tw￭ ists around itself and the mes￭ enter￭ y that supports it resulting in a bo￭ wel obstruction symptoms include ab￭ domin￭ al pain ab￭ domin￭ al blo￭ ating v￭ om￭ iting con￭ sti￭ p￭ ation and bloody sto￭ ol onset of symptoms may be rapid or more gradual the mes￭ enter￭ y may become so tightly twisted that blood flow to part of the intest￭ ine is cut off resulting in is￭ chem￭ ic bo￭ wel in this situation there may be fever or significant pain when the ab￭ dom￭ en is touched
adhe￭ sion medicine
adhe￭ sions are fi￭ bro￭ us bands that form between tissues and organs often as a result of injury during surgery they may be thought of as internal scar tissue that connects tissues not normally connected
og￭ il￭ vie syndrome
og￭ il￭ vie syndrome is the acute dil￭ ation of the col￭ on in the absence of any mechanical obstruction in severely ill patients colon￭ ic pseudo obstruction is characterized by massive di￭ lat￭ ation of the cec￭ um diameter 10 cm and right col￭ on on ab￭ domin￭ al x ray it is a type of me￭ ga￭ col￭ on sometimes referred to as acute me￭ ga￭ col￭ on to distinguish it from toxic me￭ ga￭ col￭ on the condition carries the name of the british surgeon sir william hen￭ e￭ age og￭ il￭ vie 18￭ 87 – 1971 who first reported it in 1948
diver￭ tic￭ u￭ li￭ tis
diver￭ tic￭ u￭ li￭ tis is a dig￭ estive disease in which pou￭ ches within the large bo￭ wel wall become infl￭ amed symptoms typically include lower ab￭ domin￭ al pain of a sudden onset onset however may also occur over a few days in north america and europe pain is usually on the left side while in asia it is often on the right there may also be fever naus￭ ea diarr￭ ho￭ ea or con￭ sti￭ p￭ ation or blood in the sto￭ ol repeated attacks may occur
diver￭ ticul￭ osis
diver￭ ticul￭ osis is the condition of having diver￭ tic￭ ula in the col￭ on that are not infl￭ amed these are out￭ pockets of the colon￭ ic mu￭ co￭ sa and sub￭ mu￭ co￭ sa through weaknesses of muscle layers in the col￭ on wall they typically cause no symptoms diver￭ tic￭ ular disease occurs when diver￭ tic￭ ula become infl￭ amed known as diver￭ tic￭ u￭ li￭ tis or bleed
diver￭ ticul￭ osis is the condition of having diver￭ tic￭ ula in the col￭ on that are not infl￭ amed these are out￭ pockets of the colon￭ ic mu￭ co￭ sa and sub￭ mu￭ co￭ sa through weaknesses of muscle layers in the col￭ on wall they typically cause no symptoms diver￭ tic￭ ular disease occurs when diver￭ tic￭ ula become infl￭ amed known as diver￭ tic￭ u￭ li￭ tis or bleed they typically occur in the sig￭ mo￭ id col￭ on which is a common place for increased pressure the left side is more commonly affected in the united states while the right side is more commonly affected in asia diagnosis is often during routine colon￭ o￭ sco￭ py or as an incidental finding during ct scan it is common in western countries with about half of those over the age of 60 in canada and the united states affected this is un￭ common before the age of 40 and increases in incidence after that age rates are lower in africa which has been attributed to a shorter life expectancy and poor healthcare access the lower rate has also been attributed to high fiber
irrit￭ able bo￭ wel syndrome
irrit￭ able bo￭ wel syndrome i￭ bs is a group of symptoms — including ab￭ domin￭ al pain and changes in the pattern of bo￭ wel movements without any evidence of underlying damage these symptoms occur over a long time often years it has been classified into four main types depending on if diarr￭ hea is common con￭ sti￭ p￭ ation is common both are common or neither occurs very often i￭ bs d i￭ bs c i￭ bs m or i￭ bs u respectively i￭ bs negatively affects quality of life and may result in missed school or work disorders such as anxiety major depression and chronic fatigue syndrome are common among people with i￭ bs
toxic me￭ ga￭ col￭ on
toxic me￭ ga￭ col￭ on me￭ ga￭ col￭ on tox￭ ic￭ um is an acute form of colon￭ ic dis￭ tension it is characterized by a very dil￭ ated col￭ on me￭ ga￭ col￭ on accompanied by ab￭ domin￭ al dis￭ tension blo￭ ating and sometimes fever ab￭ domin￭ al pain or shock
me￭ ga￭ col￭ on
me￭ ga￭ col￭ on is an abnormal dil￭ ation of the col￭ on also called the large intest￭ ine the dil￭ ation is often accompanied by a paralysis of the per￭ ist￭ al￭ tic movements of the bo￭ wel in more extreme cases the f￭ ec￭ es consolidate into hard masses inside the col￭ on called f￭ ec￭ al￭ om￭ as literally f￭ ec￭ al tumor which can require surgery to be removed a me￭ ga￭ col￭ on can be either acute or chronic it can also be classified according to eti￭ ology
proc￭ tal￭ gia fu￭ ga￭ x
proc￭ tal￭ gia fu￭ ga￭ x a variant of lev￭ ator ani syndrome is a severe ep￭ is￭ od￭ ic rec￭ tal and sacro￭ coc￭ cy￭ ge￭ al pain it can be caused by cr￭ amp of the lev￭ ator ani muscle particularly in the pu￭ bo￭ coc￭ cy￭ g￭ eus
anal fis￭ sure
an anal fis￭ sure or rec￭ tal fis￭ sure is a break or tear in the skin of the anal canal anal f￭ issu￭ res may be noticed by bright red anal bleeding on toilet paper sometimes in the toilet if acute they may cause pain after defec￭ ation but with chronic f￭ issu￭ res pain intensity is often less anal f￭ issu￭ res usually extend from the anal opening and are usually located poster￭ ior￭ ly in the mid￭ line probably because of the relatively un￭ supported nature and poor per￭ fusion of the anal wall in that location fis￭ sure depth may be superficial or sometimes down to the underlying sp￭ h￭ inc￭ ter muscle
anal f￭ ist￭ ula
anal f￭ ist￭ ula plural f￭ ist￭ ul￭ ae or f￭ ist￭ ula in ano is a chronic abnormal communication between the epi￭ the￭ li￭ alised surface of the anal canal and usually the peri￭ anal skin an anal f￭ ist￭ ula can be described as a narrow tunnel with its internal opening in the anal canal and its external opening in the skin near the an￭ us anal f￭ ist￭ ul￭ ae commonly occur in people with a history of anal abs￭ c￭ esses they can form when anal abs￭ c￭ esses do not heal properly abs￭ c￭ esses can recur if the f￭ ist￭ ula seals over allowing the accumulation of p￭ us it can then extends to the surface again repeating the process
ano￭ rec￭ tal abs￭ c￭ ess
rec￭ tal pro￭ lapse
used col￭ lo￭ qu￭ ially the term rec￭ tal pro￭ lapse often is used synonym￭ ously with complete rec￭ tal pro￭ lapse external rec￭ tal pro￭ lapse where the rec￭ tal walls have pro￭ lapsed to a degree where they pro￭ tru￭ de out the an￭ us and are visible outside the body however most researchers agree that there are 3 to 5 different types of rec￭ tal pro￭ lapse depending on if the pro￭ lapsed section is visible externally and if the full or only partial thickness of the rec￭ tal wall is involved
gastro￭ intest￭ inal per￭ for￭ ation
colo￭ rec￭ tal poly￭ p
a colo￭ rec￭ tal poly￭ p is a poly￭ p fles￭ hy growth occurring on the lining of the col￭ on or rec￭ tum untreated colo￭ rec￭ tal poly￭ ps can develop into colo￭ rec￭ tal cancer colo￭ rec￭ tal poly￭ ps are often classified by their behaviour i e benign vs m￭ align￭ ant and or eti￭ ology e g as a consequence of infl￭ am￭ matory bo￭ wel disease they may be benign e g hyper￭ plastic poly￭ p pre m￭ align￭ ant e g tu￭ bul￭ ar aden￭ oma or m￭ align￭ ant e g colo￭ rec￭ tal aden￭ o￭ carcin￭ oma
poly￭ p medicine
a poly￭ p is an abnormal growth of tissue projec￭ ting from a mu￭ co￭ us memb￭ rane if it is attached to the surface by a narrow el￭ ong￭ ated stal￭ k it is said to be pe￭ dun￭ cul￭ ated if no stal￭ k is present it is said to be ses￭ sile poly￭ ps are commonly found in the col￭ on stomach nose ear sin￭ us es ur￭ inary blad￭ der and uter￭ us they may also occur elsewhere in the body where mu￭ co￭ us memb￭ ran￭ es exist like the cer￭ vi￭ x vocal fol￭ ds and small intest￭ ine some poly￭ ps are tumors ne￭ op￭ las￭ ms and others are non￭ ne￭ op￭ l￭ astic for example hyper￭ plastic or dys￭ plastic the ne￭ op￭ l￭ astic ones are generally benign although some can be pre￭ m￭ align￭ ant and or con￭ current with a m￭ align￭ ancy
cron￭ kh￭ ite – canada syndrome
cron￭ kh￭ ite – canada syndrome is a rare syndrome characterized by multiple poly￭ ps of the dig￭ estive tract it is spor￭ adic i e it does not seem to be a hereditary disease and it is currently considered acquired and idi￭ opathic i e cause remains unknown about two thirds of patients are of japanese descent and the male to female ratio is 2 1 it was characterized in 1955
pneu￭ mat￭ osis inte￭ stin￭ alis
pneu￭ mat￭ osis inte￭ stin￭ alis also called intest￭ inal pneu￭ mat￭ osis pneu￭ mat￭ osis cy￭ sto￭ ides inte￭ stin￭ alis or pneu￭ mat￭ osis coli is pneu￭ mat￭ osis of an intest￭ ine that is gas cy￭ sts in the bo￭ wel wall as a radiological sign it is highly sugges￭ tive for necro￭ tizing enter￭ o￭ co￭ li￭ tis this is in contrast to gas in the intest￭ inal lum￭ en which is relieved by flat￭ ul￭ ence in new￭ bor￭ ns pneu￭ mat￭ osis inte￭ stin￭ alis is considered diagnostic for necro￭ tizing enter￭ o￭ co￭ li￭ tis and the air is produced by bacteria in the bo￭ wel wall the patho￭ genesis of pneu￭ mat￭ osis inte￭ stin￭ alis is poorly understood and is likely multi￭ fac￭ torial pi itself is not a disease but rather a clinical sign in some cases pi is an incidental finding whereas in others it port￭ ends a life threatening intra ab￭ domin￭ al condition
pneu￭ mat￭ osis inte￭ stin￭ alis also called intest￭ inal pneu￭ mat￭ osis pneu￭ mat￭ osis cy￭ sto￭ ides inte￭ stin￭ alis or pneu￭ mat￭ osis coli is pneu￭ mat￭ osis of an intest￭ ine that is gas cy￭ sts in the bo￭ wel wall as a radiological sign it is highly sugges￭ tive for necro￭ tizing enter￭ o￭ co￭ li￭ tis this is in contrast to gas in the intest￭ inal lum￭ en which is relieved by flat￭ ul￭ ence in new￭ bor￭ ns pneu￭ mat￭ osis inte￭ stin￭ alis is considered diagnostic for necro￭ tizing enter￭ o￭ co￭ li￭ tis and the air is produced by bacteria in the bo￭ wel wall the patho￭ genesis of pneu￭ mat￭ osis inte￭ stin￭ alis is poorly understood and is likely multi￭ fac￭ torial pi itself is not a disease but rather a clinical sign in some cases pi is an incidental finding whereas in others it port￭ ends a life threatening intra ab￭ domin￭ al condition pneu￭ mat￭ osis inte￭ stin￭ alis at compu￭ ted tom￭ o￭ graphy in intest￭ inal is￭ chem￭ ia lung window for better representation of the gas deposits in the intest￭ inal walls cor￭ onal reconstruction pneu￭ mat￭ osis inte￭ stin￭ alis in the cor￭ onal compu￭ ted tom￭ o￭ graphy in lung window it can be seen next to gas entr￭ ap￭ ment in the bo￭ wel wall and gas in the stomach wall and in numerous vessels including the portal vein into the liver pneu￭ mat￭ osis inte￭ stin￭ alis in compu￭ ted tom￭ o￭ graphy with intest￭ inal is￭ chem￭ ia lung window for better representation of the gas deposits in the intest￭ inal walls u￭ pri￭ ght ap radio￭ graph showing gas in the wall of the small bo￭ wel in the left upper quad￭ rant indicative of pneu￭ mat￭ osis inte￭ stin￭ alis cor￭ onal reform￭ at￭ ted m￭ d￭ ct image showing extensive pneu￭ mat￭ osis inte￭ stin￭ alis in the left upper quad￭ rant small bo￭ wel the pneu￭ mat￭ osis is more c￭ ys￭ tic and no￭ d￭ ular in the small bo￭ wel in the mid￭ line and the right of mid￭ line this patient had a relatively benign presentation without bo￭ wel is￭ chem￭ ia and was treated conserv￭ atively
hemor￭ rho￭ id
hemor￭ rho￭ ids also spelled ha￭ emor￭ rho￭ ids are vascular structures in the anal canal in their normal state they are cush￭ ions that help with sto￭ ol control they become a disease when sw￭ oll￭ en or infl￭ amed the unqualified term hemor￭ rho￭ id is often used to mean the disease the signs and symptoms of hemor￭ rho￭ ids depend on the type present internal hemor￭ rho￭ ids usually present with pain￭ less bright red rec￭ tal bleeding when defec￭ ating external hemor￭ rho￭ ids often result in pain and sw￭ elling in the area of the an￭ us if bleeding occurs it is usually darker symptoms frequently get better after a few days a skin tag may remain after the healing of an external hemor￭ rho￭ id
hemor￭ rho￭ ids also spelled ha￭ emor￭ rho￭ ids are vascular structures in the anal canal in their normal state they are cush￭ ions that help with sto￭ ol control they become a disease when sw￭ oll￭ en or infl￭ amed the unqualified term hemor￭ rho￭ id is often used to mean the disease the signs and symptoms of hemor￭ rho￭ ids depend on the type present internal hemor￭ rho￭ ids usually present with pain￭ less bright red rec￭ tal bleeding when defec￭ ating external hemor￭ rho￭ ids often result in pain and sw￭ elling in the area of the an￭ us if bleeding occurs it is usually darker symptoms frequently get better after a few days a skin tag may remain after the healing of an external hemor￭ rho￭ id while the exact cause of hemor￭ rho￭ ids remains unknown a number of factors which increase pressure in the ab￭ dom￭ en are believed to be involved this may include con￭ sti￭ p￭ ation diarr￭ hea and sitting on the toilet for a long time hemor￭ rho￭ ids are also more common during pregnancy diagnosis is made by looking at the area many people incorrectly refer to any symptom occurring around the anal area as hemor￭ rho￭ ids and serious causes of the symptoms should be ruled out colon￭ o￭ sco￭ py or sig￭ mo￭ ido￭ sco￭ py is reasonable to confirm the diagnosis and rule out more serious causes often no specific treatment is needed initial measures consists of increasing fiber intake drinking fluids to maintain hydr￭ ation n￭ s￭ aids to help with pain and rest medicated cre￭ ams applied to the area are poorly supported by evidence a number of minor procedures may be performed if symptoms are severe or do not improve with conservative management surgery is reserved for those who fail to improve following these measures half to two thirds of people have problems with hemor￭ rho￭ ids at some point in their lives males and females are affected about equally commonly hemor￭ rho￭ ids affect people most often between 45 and 65 years of age it is more common among the wealthy outcomes are usually good the first known mention of the disease is from a 1700 bc egyptian pap￭ y￭ rus
per￭ it￭ oni￭ tis
per￭ it￭ oni￭ tis is an infl￭ amm￭ ation of the per￭ it￭ on￭ eu￭ m the thin tissue that lines the inner wall of the ab￭ dom￭ en and covers most of the ab￭ domin￭ al organs per￭ it￭ oni￭ tis may be loc￭ alized or generalized and may result from infection often due to rupture of a hollow ab￭ domin￭ al organ as may occur in ab￭ domin￭ al trauma or infl￭ amed appendix or from a non infectious process
pneu￭ m￭ oper￭ it￭ on￭ eu￭ m
pneu￭ m￭ oper￭ it￭ on￭ eu￭ m is pneu￭ mat￭ osis abnormal presence of air or other gas in the per￭ it￭ one￭ al cav￭ ity a potential space within the ab￭ domin￭ al cav￭ ity when present it can often be seen on radio￭ graphy but small amounts are often missed and ct scan is nowadays regarded as a criterion standard in the assessment of a pneu￭ m￭ oper￭ it￭ on￭ eu￭ m ct can vis￭ u￭ alize quantities as small as 5 cm ³ of air or gas the most common cause is a per￭ for￭ ated ab￭ domin￭ al vis￭ cus generally a per￭ for￭ ated pe￭ ptic ul￭ cer although any part of the bo￭ wel may per￭ for￭ ate from a benign ul￭ cer tumor or ab￭ domin￭ al trauma a per￭ for￭ ated appendix seldom causes a pneu￭ m￭ oper￭ it￭ on￭ eu￭ m
fatty liver
fatty liver also known as fatty liver disease f￭ ld or he￭ p￭ atic ste￭ at￭ osis is a reversible condition where￭ in large vacu￭ oles of tri￭ gly￭ cer￭ ide fat accumulate in liver cells via the process of ste￭ at￭ osis i e abnormal retention of li￭ pi￭ ds within a cell despite having multiple causes fatty liver can be considered a single disease that occurs worldwide in those with excessive alcohol intake and the ob￭ ese with or without effects of insulin resistance the condition is also associated with other diseases that influence fat metabol￭ ism when this process of fat metabol￭ ism is disrupted the fat can accumulate in the liver in excessive amounts thus resulting in a fatty liver it is difficult to distinguish alcoholic f￭ ld from non￭ alcoholic f￭ ld and both show micro￭ vesicular and macro￭ vesicular fatty
fatty liver also known as fatty liver disease f￭ ld or he￭ p￭ atic ste￭ at￭ osis is a reversible condition where￭ in large vacu￭ oles of tri￭ gly￭ cer￭ ide fat accumulate in liver cells via the process of ste￭ at￭ osis i e abnormal retention of li￭ pi￭ ds within a cell despite having multiple causes fatty liver can be considered a single disease that occurs worldwide in those with excessive alcohol intake and the ob￭ ese with or without effects of insulin resistance the condition is also associated with other diseases that influence fat metabol￭ ism when this process of fat metabol￭ ism is disrupted the fat can accumulate in the liver in excessive amounts thus resulting in a fatty liver it is difficult to distinguish alcoholic f￭ ld from non￭ alcoholic f￭ ld and both show micro￭ vesicular and macro￭ vesicular fatty changes at different stages accumulation of fat may also be accompanied by a progressive infl￭ amm￭ ation of the liver hepatitis called ste￭ ato￭ hepatitis by considering the contribution by alcohol fatty liver may be termed alcoholic ste￭ at￭ osis or non￭ alcoholic fatty liver disease naf￭ ld and the more severe forms as alcoholic ste￭ ato￭ hepatitis part of alcoholic liver disease and non alcoholic ste￭ ato￭ hepatitis n￭ ash
zi￭ eve s syndrome
zi￭ eve s syndrome is an acute metabol￭ ic condition that can occur during withdrawal from prolonged alcohol abuse it is defined by hem￭ ol￭ y￭ tic an￭ emia with spur cells and ac￭ anth￭ oc￭ y￭ tes hyper￭ li￭ po￭ prote￭ in￭ aemia excessive blood li￭ po￭ protein ja￭ und￭ ice elev￭ ation of un￭ con￭ ju￭ gated bi￭ li￭ rubin and ab￭ domin￭ al pain the underlying cause is liver deli￭ pi￭ di￭ zation this is distinct from alcoholic hepatitis which however may present simultaneously or develop later
ste￭ ato￭ hepatitis
ste￭ ato￭ hepatitis is a type of fatty liver disease characterized by infl￭ amm￭ ation of the liver with con￭ current fat accumulation in liver more de￭ position of fat in the liver is termed ste￭ at￭ osis and together these constitute fatty liver changes the word is from ste￭ ato meaning fat and hepatitis meaning infl￭ amm￭ ation of the liver
cir￭ rho￭ sis
cir￭ rho￭ sis is a condition in which the liver does not function properly due to long term damage typically the disease comes on slowly over months or years early on there are often no symptoms as the disease wor￭ sens a person may become tired weak it￭ chy have sw￭ elling in the lower legs develop yellow skin bru￭ ise easily have fluid build up in the ab￭ dom￭ en or develop spider like blood vessels on the skin the fluid build up in the ab￭ dom￭ en may become spontaneously infected other complications include he￭ p￭ atic encephalopathy bleeding from dil￭ ated ve￭ ins in the es￭ op￭ ha￭ gus or dil￭ ated stomach ve￭ ins and liver cancer he￭ p￭ atic encephalopathy results in confusion and possibly un￭ consciousness
cir￭ rho￭ sis is a condition in which the liver does not function properly due to long term damage typically the disease comes on slowly over months or years early on there are often no symptoms as the disease wor￭ sens a person may become tired weak it￭ chy have sw￭ elling in the lower legs develop yellow skin bru￭ ise easily have fluid build up in the ab￭ dom￭ en or develop spider like blood vessels on the skin the fluid build up in the ab￭ dom￭ en may become spontaneously infected other complications include he￭ p￭ atic encephalopathy bleeding from dil￭ ated ve￭ ins in the es￭ op￭ ha￭ gus or dil￭ ated stomach ve￭ ins and liver cancer he￭ p￭ atic encephalopathy results in confusion and possibly un￭ consciousness cir￭ rho￭ sis is most commonly caused by alcohol hepatitis b hepatitis c and non alcoholic fatty liver disease typically more than two or three drinks per day over a number of years is required for alcoholic cir￭ rho￭ sis to occur non alcoholic fatty liver disease is due to a number of reasons including being overweight diabetes high blood fats and high blood pressure a number of less common causes include auto￭ immune hepatitis primary bi￭ li￭ ary cir￭ rho￭ sis h￭ emo￭ chro￭ mat￭ osis certain medications and gall￭ stones cir￭ rho￭ sis is characterized by the replacement of normal liver tissue by scar tissue these changes lead to loss of liver function diagnosis is based on blood testing medical imaging and liver biopsy some causes of cir￭ rho￭ sis such as hepatitis b can be prevented by vaccination treatment partly depends on the underlying cause the goal is often to prevent worsening and complications avoiding alcohol is recommended hepatitis b and c may be treat￭ able with anti￭ viral medications auto￭ immune hepatitis may be treated with ster￭ o￭ id medications ur￭ so￭ di￭ ol may be useful if the disease is due to block￭ age of the bile duc￭ ts other medications may be useful for complications such as sw￭ elling he￭ p￭ atic encephalopathy and dil￭ ated es￭ op￭ ha￭ ge￭ al ve￭ ins in severe cir￭ rho￭ sis a liver transplant may be an option cir￭ rho￭ sis resulted in 1 2 million deaths in 2013 up from 0 8 million deaths in 1990 of these alcohol caused 384 000 hepatitis c caused 358 000 and hepatitis b caused 317 000 in the united states more men die of cir￭ rho￭ sis than women the first known description of the condition is by hippo￭ crates in the 5 th century b￭ ce the word cir￭ rho￭ sis is from greek κ￭ ί￭ ρ￭ ρ￭ ω￭ σ￭ ις kir￭ rho￭ s κ￭ ι￭ ρ￭ ρ￭ ός yel￭ low￭ ish and osis ω￭ σ￭ ις meaning condition
he￭ pat￭ o￭ toxicity
he￭ pat￭ o￭ toxicity from he￭ p￭ atic toxicity implies chemical driven liver damage drug induced liver injury is a cause of acute and chronic liver disease the liver plays a central role in transforming and clearing chemicals and is susceptible to the toxicity from these agents certain medicinal agents when taken in over￭ doses and sometimes even when introduced within therapeutic ranges may inj￭ ure the organ other chemical agents such as those used in laboratories and industries natural chemicals e g micro￭ cy￭ st￭ ins and herbal remedies can also induce he￭ pat￭ o￭ toxicity chemicals that cause liver injury are called he￭ pat￭ o￭ toxins
cho￭ le￭ st￭ asis
cho￭ le￭ st￭ asis is a condition where bile cannot flow from the liver to the du￭ o￭ den￭ um the two basic distinctions are an obstruc￭ tive type of cho￭ le￭ st￭ asis where there is a mechanical block￭ age in the duc￭ t system that can occur from a gall￭ stone or m￭ align￭ ancy and metabol￭ ic types of cho￭ le￭ st￭ asis which are disturbances in bile formation that can occur because of genetic defects or acquired as a side effect of many medications
he￭ p￭ atic encephalopathy
he￭ p￭ atic encephalopathy he is the occurrence of confusion altered level of consciousness and coma as a result of liver failure in the advanced stages it is called he￭ p￭ atic coma or coma hepati￭ cu￭ m it may ultimately lead to death
liver failure
liver failure or he￭ p￭ atic in￭ sufficiency is the inability of the liver to perform its normal synthetic and metabol￭ ic function as part of normal physi￭ ology two forms are recognised acute and chronic recently a third form of liver failure known as acute on chronic liver failure ac￭ lf is increasingly being recognized
primary bi￭ li￭ ary cir￭ rho￭ sis
primary bi￭ li￭ ary cir￭ rho￭ sis also known as primary bi￭ li￭ ary chol￭ an￭ gi￭ tis p￭ bc is an auto￭ immune disease of the liver it is marked by slow progressive destruction of the small bile duc￭ ts of the liver with the intr￭ al￭ ob￭ ular duc￭ ts and the can￭ als of her￭ ing intra￭ he￭ p￭ atic duc￭ t￭ ules affected early in the disease when these duc￭ ts are damaged bile and other toxins build up in the liver cho￭ le￭ st￭ asis and over time damages the liver tissue in combination with ongoing immune related damage this can lead to scar￭ ring fi￭ bro￭ sis and cir￭ rho￭ sis
liver abs￭ c￭ ess
auto￭ immune hepatitis
auto￭ immune hepatitis formerly called lu￭ po￭ id hepatitis is a chronic auto￭ immune disease of the liver that occurs when the body s immune system attacks liver cells causing the liver to be infl￭ amed common initial symptoms include fatigue or muscle aches or signs of acute liver infl￭ amm￭ ation including fever ja￭ und￭ ice and right upper quad￭ rant ab￭ domin￭ al pain individuals with auto￭ immune hepatitis often have no initial symptoms and the disease is detected by abnormal liver function tests
hepatitis
hepatitis is a disease of the liver characterized by the presence of infl￭ amm￭ ation hepatitis may occur without symptoms but can lead to ja￭ und￭ ice a yellow dis￭ color￭ ation of the skin mu￭ co￭ us memb￭ ran￭ es and con￭ junc￭ tiva of the eyes poor appetite and fatigue depending on the cause hepatitis can manifest either as an acute or as a chronic disease acute hepatitis can be self limiting resolving on its own can progress to chronic hepatitis or can cause acute liver failure in rare instances chronic hepatitis may have no symptoms or may progress over time to cir￭ rho￭ sis scar￭ ring of the liver fi￭ bro￭ sis the formation of extra fi￭ bro￭ us connec￭ tive tissue and chronic liver failure cir￭ rho￭ sis of the liver increases the risk of developing he￭ pat￭ oc￭ ell￭ ular carcin￭ oma a form of liver cancer
cong￭ estive he￭ pat￭ opathy
cong￭ estive he￭ pat￭ opathy also known as nut￭ meg liver and chronic passive congestion of the liver is liver dysfunction due to ven￭ ous congestion usually due to cong￭ estive heart failure the gross pathological appearance of a liver affected by chronic passive congestion is spec￭ k￭ led like a gr￭ ated nut￭ meg ker￭ nel the dark spots represent the dil￭ ated and congested he￭ p￭ atic ven￭ ules and small he￭ p￭ atic ve￭ ins the pal￭ er areas are unaffected surrounding liver tissue when severe and longstanding he￭ p￭ atic congestion can lead to fi￭ bro￭ sis if congestion is due to right heart failure it is called cardiac cir￭ rho￭ sis
pe￭ li￭ osis hepati￭ s
pe￭ li￭ osis hepati￭ s is an un￭ common vascular condition characterised by multiple randomly distributed blood filled ca￭ vities throughout the liver the size of the ca￭ vities usually ranges between a few millimetres to 3 cm in diameter in the past it was a mere his￭ to￭ logical curiosity occasionally found at autop￭ sies but has been increasingly recognised with wide ranging conditions from aids to the use of an￭ abol￭ ic ster￭ oids it also occasionally affects sp￭ leen lymp￭ h no￭ des lungs kidneys adren￭ al g￭ lands bone marrow and other parts of gastro￭ intest￭ inal tract
he￭ p￭ atic ven￭ o oc￭ clu￭ sive disease
he￭ p￭ atic ven￭ o oc￭ clu￭ sive disease or ven￭ o oc￭ clu￭ sive disease v￭ od is a condition in which some of the small ve￭ ins in the liver are obstructed it is a complic￭ ation of high dose chem￭ otherapy given before a bone marrow transplant b￭ mt and is marked by weight gain due to fluid retention increased liver size and raised levels of bi￭ li￭ rubin in the blood the name sin￭ us￭ o￭ idal obstruction syndrome is now preferred if v￭ od happens as a result of chem￭ otherapy or bone marrow transplantation
he￭ p￭ atic ven￭ o oc￭ clu￭ sive disease or ven￭ o oc￭ clu￭ sive disease v￭ od is a condition in which some of the small ve￭ ins in the liver are obstructed it is a complic￭ ation of high dose chem￭ otherapy given before a bone marrow transplant b￭ mt and is marked by weight gain due to fluid retention increased liver size and raised levels of bi￭ li￭ rubin in the blood the name sin￭ us￭ o￭ idal obstruction syndrome is now preferred if v￭ od happens as a result of chem￭ otherapy or bone marrow transplantation apart from chem￭ otherapy v￭ od may also occur after ing￭ estion of certain plant al￭ k￭ alo￭ ids such as py￭ r￭ ro￭ li￭ zid￭ ine al￭ k￭ alo￭ ids in some herbal te￭ as and has been described as part of a rare hereditary disease called he￭ p￭ atic ven￭ o￭ oc￭ clu￭ sive disease with immun￭ o￭ deficiency which results from mutations in the gene coding for a protein called sp 110
portal hyper￭ tension
portal hyper￭ tension is hyper￭ tension high blood pressure in the he￭ p￭ atic portal system which is composed of the portal vein and its branches and tribu￭ taries portal hyper￭ tension is defined as elev￭ ation of he￭ p￭ atic ven￭ ous pressure gr￭ adi￭ ent in clinical practice the pressure is not measured directly until the decision to place a trans￭ ju￭ g￭ ular intra￭ he￭ p￭ atic por￭ to￭ systemic sh￭ unt has been made part of the procedure a he￭ p￭ atic vein wedge pressure is measured with the assumption of no pressure drop across the liver yielding portal vein pressure
gall￭ stone
a gall￭ stone is a stone formed within the gall￭ blad￭ der out of bile components the term cho￭ le￭ li￭ thi￭ asis may refer to the presence of stones in the gall￭ blad￭ der or to the diseases caused by gall￭ stones most people with gall￭ stones about 80 never have symptoms in 1 – 4 of those with gall￭ stones a cr￭ amp￭ y pain in the right upper part of the ab￭ dom￭ en known as bi￭ li￭ ary col￭ ic occurs each year complications of gall￭ stones include infl￭ amm￭ ation of the gall￭ blad￭ der infl￭ amm￭ ation of the pan￭ cre￭ as and liver infl￭ amm￭ ation symptoms of these complications may include pain of more than five hours duration fever yel￭ low￭ ish skin v￭ om￭ iting or tea color urine
a gall￭ stone is a stone formed within the gall￭ blad￭ der out of bile components the term cho￭ le￭ li￭ thi￭ asis may refer to the presence of stones in the gall￭ blad￭ der or to the diseases caused by gall￭ stones most people with gall￭ stones about 80 never have symptoms in 1 – 4 of those with gall￭ stones a cr￭ amp￭ y pain in the right upper part of the ab￭ dom￭ en known as bi￭ li￭ ary col￭ ic occurs each year complications of gall￭ stones include infl￭ amm￭ ation of the gall￭ blad￭ der infl￭ amm￭ ation of the pan￭ cre￭ as and liver infl￭ amm￭ ation symptoms of these complications may include pain of more than five hours duration fever yel￭ low￭ ish skin v￭ om￭ iting or tea color urine risk factors for gall￭ stones include birth control pills pregnancy a family history of gall￭ stones obesity diabetes liver disease or rapid weight loss gall￭ stones are formed in the gall￭ blad￭ der typically from either cho￭ le￭ sterol or bi￭ li￭ rubin gall￭ stones may be suspected based on symptoms diagnosis is then typically confirmed by ul￭ tras￭ ound complications may be detected on blood tests prevention is by maintaining a healthy weight and eating a proper diet if there are no symptoms treatment is usually not needed in those who are having gall￭ blad￭ der attacks surgery to remove the gall￭ blad￭ der is typically recommended this can be either done through several small incis￭ ions or through a single larger inc￭ ision surgery is typically done under general an￭ esthesia in those who are unable to have surgery medication to try to dissolve the stones or shock wave lith￭ o￭ tri￭ psy may be tried in the developed world 10 – 15 of adults have gall￭ stones rates in many parts of africa however are as low as 3 gall￭ blad￭ der and bi￭ li￭ ary related diseases occurred in about 104 million people 1 6 in 2013 and they resulted in 106 000 deaths women more commonly have stones than men and they occur more commonly after the age of 40 certain ethnic groups have gall￭ stones more often than others for example 48 of american indians have gall￭ stones once the gall￭ blad￭ der is removed outcomes are generally good
chol￭ ec￭ y￭ sti￭ tis
chol￭ ec￭ y￭ sti￭ tis is infl￭ amm￭ ation of the gall￭ blad￭ der symptoms include right upper ab￭ domin￭ al pain naus￭ ea v￭ om￭ iting and occasionally fever often acute chol￭ ec￭ y￭ ti￭ tis is proceeded by gall￭ blad￭ der attacks the pain however lasts longer than is typical in a gall￭ blad￭ der attack without appropriate treatment recurrent episodes of chol￭ ec￭ y￭ sti￭ tis are common acute chol￭ ec￭ y￭ sti￭ tis may be complicated by gall￭ stone pan￭ cre￭ ati￭ tis common bile duc￭ t stones or infl￭ amm￭ ation of the common bile duc￭ t
primary s￭ cl￭ ero￭ sing chol￭ an￭ gi￭ tis
primary s￭ cl￭ ero￭ sing chol￭ an￭ gi￭ tis psc is a disease of the bile duc￭ ts that causes infl￭ amm￭ ation and obliter￭ ative fi￭ bro￭ sis of bile duc￭ ts inside and or outside of the liver this pathological process impedes the flow of bile to the intest￭ ines and can lead to cir￭ rho￭ sis of the liver liver failure and other complications including bile duc￭ t and liver cancer the underlying cause of the infl￭ amm￭ ation remains unknown but elements of auto￭ immunity and micro￭ bial dys￭ bio￭ sis have been described and are suggested by the observation that approximately 75 of individuals with psc also have infl￭ am￭ matory bo￭ wel disease i￭ b￭ d most often ul￭ cer￭ ative co￭ li￭ tis the most definitive treatment for psc is liver transplantation though only a fraction of individuals with psc will ultimately require it
ha￭ em￭ ob￭ ilia
bi￭ li￭ ary sludge
bi￭ li￭ ary sludge refers to a vis￭ co￭ us mixture of small particles derived from bile these se￭ di￭ ments consist of cho￭ le￭ sterol cryst￭ als calcium salts calcium bi￭ li￭ ru￭ bin￭ ate m￭ uc￭ in and other materials
asc￭ ending chol￭ an￭ gi￭ tis
asc￭ ending chol￭ an￭ gi￭ tis also known as acute chol￭ an￭ gi￭ tis or simply chol￭ an￭ gi￭ tis is an infection of the bile duc￭ t chol￭ an￭ gi￭ tis usually caused by bacteria asc￭ ending from its junction with the du￭ o￭ den￭ um first part of the small intest￭ ine it tends to occur if the bile duc￭ t is already partially obstructed by gall￭ stones
pan￭ cre￭ ati￭ tis
pan￭ cre￭ ati￭ tis is infl￭ amm￭ ation of the pan￭ cre￭ as the pan￭ cre￭ as is a large organ behind the stomach that produces dig￭ estive enzymes there are two main types acute pan￭ cre￭ ati￭ tis and chronic pan￭ cre￭ ati￭ tis signs and symptoms of pan￭ cre￭ ati￭ tis include pain in the upper ab￭ dom￭ en naus￭ ea and v￭ om￭ iting the pain often goes into the back and is usually severe in acute pan￭ cre￭ ati￭ tis a fever may occur and symptoms typically resolve in a few days in chronic pan￭ cre￭ ati￭ tis weight loss fatty sto￭ ol and diarr￭ hea may occur complications may include infection bleeding diabetes mell￭ it￭ us or problems with other organs
pan￭ cre￭ atic pseu￭ do￭ cyst
a pan￭ cre￭ atic pseu￭ do￭ cyst is a circum￭ scri￭ bed collection of fluid rich in pan￭ cre￭ atic enzymes blood and necro￭ tic tissue typically located in the lesser s￭ ac of the ab￭ dom￭ en pan￭ cre￭ atic pseu￭ do￭ cy￭ sts are usually complications of pan￭ cre￭ ati￭ tis although in children they frequently occur following ab￭ domin￭ al trauma pan￭ cre￭ atic pseu￭ do￭ cy￭ sts account for approximately 75 of all pan￭ cre￭ atic masses
exo￭ cr￭ ine pan￭ cre￭ atic in￭ sufficiency
exo￭ cr￭ ine pan￭ cre￭ atic in￭ sufficiency ep￭ i is the inability to properly dig￭ est food due to a lack of dig￭ estive enzymes made by the pan￭ cre￭ as ep￭ i is found in humans afflicted with c￭ ys￭ tic fi￭ bro￭ sis and sh￭ wach￭ man diamond syndrome and is common in dogs ep￭ i is caused by a progressive loss of the pan￭ cre￭ atic cells that make dig￭ estive enzymes loss of dig￭ estive enzymes leads to mal￭ dig￭ estion and mal￭ absorption of nutrients from normal dig￭ estive processes chronic pan￭ cre￭ ati￭ tis is the most common cause of ep￭ i in humans and cats in dogs the most common cause is by pan￭ cre￭ atic ac￭ in￭ ar atro￭ phy arising as a result of genetic conditions a blocked pan￭ cre￭ atic duc￭ t or prior infection
ste￭ at￭ or￭ rhe￭ a
co￭ eli￭ ac disease
co￭ eli￭ ac disease also spelled ce￭ li￭ ac disease is an auto￭ immune disorder affecting primarily the small intest￭ ine that occurs in people who are genetically pre￭ disposed classic symptoms include gastro￭ intest￭ inal problems such as chronic diarr￭ ho￭ ea ab￭ domin￭ al dist￭ ention mal￭ absorption loss of appetite and among children failure to grow normally this often begins between six months and two years of age non classic symptoms are the most common especially in people older than two years there may be mild or absent gastro￭ intest￭ inal symptoms a wide number of symptoms involving any part of the body or no obvious symptoms co￭ eli￭ ac disease was first described in childhood however it may develop at any age it is associated with other auto￭ immune diseases such as diabetes mell￭ it￭ us type 1 and th
co￭ eli￭ ac disease also spelled ce￭ li￭ ac disease is an auto￭ immune disorder affecting primarily the small intest￭ ine that occurs in people who are genetically pre￭ disposed classic symptoms include gastro￭ intest￭ inal problems such as chronic diarr￭ ho￭ ea ab￭ domin￭ al dist￭ ention mal￭ absorption loss of appetite and among children failure to grow normally this often begins between six months and two years of age non classic symptoms are the most common especially in people older than two years there may be mild or absent gastro￭ intest￭ inal symptoms a wide number of symptoms involving any part of the body or no obvious symptoms co￭ eli￭ ac disease was first described in childhood however it may develop at any age it is associated with other auto￭ immune diseases such as diabetes mell￭ it￭ us type 1 and thyro￭ idi￭ tis among others co￭ eli￭ ac disease is caused by a reaction to glu￭ ten which are various proteins found in wheat and in other grains such as barley and rye moderate quantities of oats free of contamination with other glu￭ ten containing grains are usually tolerated but problems may depend on the type consumed upon exposure to glu￭ ten an abnormal immune response may lead to the production of several different auto￭ antibodies that can affect a number of different organs in the small bo￭ wel this causes an infl￭ am￭ matory reaction and may produce shortening of the vill￭ i lining the small intest￭ ine vill￭ ous atro￭ phy this affects the absorption of nutrients frequently leading to ana￭ emia diagnosis is typically made by a combination of blood anti￭ body tests and intest￭ inal biop￭ sies helped by specific genetic testing making the diagnosis is not always straightforward frequently the auto￭ antibodies in the blood are negative and many people have only minor intest￭ inal changes with normal vill￭ i people may have severe symptoms and be investigated for years before a diagnosis is achieved increasingly the diagnosis is being made in people without symptoms as a result of screening while the disease is caused by a permanent intolerance to wheat proteins it is usually classified as different from the other forms of wheat allergy the only known effective treatment is a strict lifelong glu￭ ten free diet which leads to recovery of the intest￭ inal mu￭ co￭ sa improves symptoms and reduced risk of developing complications in most people if untreated it may result in cancers such as intest￭ inal lymp￭ homa and a slight increased risk of early death rates vary between different regions of the world from as few as 1 in 300 to as many as 1 in 40 with an average of between 1 in 100 and 1 in 170 people in developed countries it is estimated that five out of six cases 83 remain un￭ diagnosed usually because of non classic minimal or absent complaints co￭ eli￭ ac disease is slightly more common in women than in men the term co￭ eli￭ ac is from the greek κοι￭ λ￭ ι￭ ακ￭ ός ko￭ ili￭ ak￭ ós ab￭ domin￭ al and was introduced in the 19 th century in a translation of what is generally regarded as an ancient greek description of the disease by are￭ ta￭ eus of capp￭ ad￭ o￭ cia
tropical sp￭ rue
tropical sp￭ rue is a mal￭ absorption disease commonly found in tropical regions marked with abnormal fl￭ att￭ ening of the vill￭ i and infl￭ amm￭ ation of the lining of the small intest￭ ine it differs significantly from co￭ eli￭ ac sp￭ rue it appears to be a more severe form of environmental enter￭ opathy
blind loop syndrome
blind loop syndrome bl￭ s commonly referred to in the literature as small intest￭ inal bacterial over￭ growth si￭ bo or bacterial over￭ growth syndrome bos is a state that occurs when the normal bacterial flora of the small intest￭ ine prolifer￭ ates to numbers that cause significant der￭ ang￭ ement to the normal physiological processes of dig￭ estion and absorption in some cases of blind loop syndrome over￭ growth of pathogenic non commens￭ al bacteria has also been noted it has long been understood that from birth and throughout life large amounts of bacteria reside symbio￭ tically within animal gastro￭ intest￭ inal tracts such as the human gastro￭ intest￭ inal tract the understanding of this gut flora has even led to novel treatments for bo￭ wel irregularity that utili￭ ze so called pro￭ bio￭ tics or good bac￭ ter
blind loop syndrome bl￭ s commonly referred to in the literature as small intest￭ inal bacterial over￭ growth si￭ bo or bacterial over￭ growth syndrome bos is a state that occurs when the normal bacterial flora of the small intest￭ ine prolifer￭ ates to numbers that cause significant der￭ ang￭ ement to the normal physiological processes of dig￭ estion and absorption in some cases of blind loop syndrome over￭ growth of pathogenic non commens￭ al bacteria has also been noted it has long been understood that from birth and throughout life large amounts of bacteria reside symbio￭ tically within animal gastro￭ intest￭ inal tracts such as the human gastro￭ intest￭ inal tract the understanding of this gut flora has even led to novel treatments for bo￭ wel irregularity that utili￭ ze so called pro￭ bio￭ tics or good bacteria that aid in normal dig￭ estion the problem of bl￭ s arises when the bacterial colonies residing in the upper gastro￭ intest￭ inal tract begin to grow out of control or are altered in their makeup thereby creating a burden on the normal physiological processes occurring in the small intest￭ ine this results in problems inclusive of but not restricted to vitamin b 12 deficiency fat mal￭ absorption and ste￭ at￭ or￭ rhe￭ a fat soluble vitamin deficiencies and intest￭ inal wall injury
small intest￭ inal bacterial over￭ growth
small intest￭ inal bacterial over￭ growth si￭ bo also termed bacterial over￭ grow￭ ths or small bo￭ wel bacterial over￭ growth syndrome s￭ b￭ bos is a disorder of excessive bacterial growth in the small intest￭ ine unlike the col￭ on or large bo￭ wel which is rich with bacteria the small bo￭ wel usually has fewer than 10 000 organisms per milli￭ litre patients with bacterial over￭ growth typically develop symptoms including naus￭ ea blo￭ ating v￭ om￭ iting diarr￭ hea malnutrition weight loss and mal￭ absorption which is caused by a number of mechanisms
food intolerance
food intolerance or non allergic food hy￭ pers￭ ensi￭ tivity is a detrimental reaction often delayed to a food bever￭ age food additive or compound found in foods that produces symptoms in one or more body organs and systems but generally refers to reactions other than food allergy food allergies are immune reactions involving m￭ ast cells in which food triggers release of m￭ ast cell mediators such as hist￭ amine when the food aller￭ gen binds to pre formed i￭ ge antibodies already bound to the m￭ ast cell this mechanism causes allergies to typically give immediate reaction a few minutes to a few hours to foods there are numerous causes for other types of food sensitivities most of which in contrast to food allergies cause delayed hy￭ pers￭ ensi￭ tivity reactions to the food
food intolerance or non allergic food hy￭ pers￭ ensi￭ tivity is a detrimental reaction often delayed to a food bever￭ age food additive or compound found in foods that produces symptoms in one or more body organs and systems but generally refers to reactions other than food allergy food allergies are immune reactions involving m￭ ast cells in which food triggers release of m￭ ast cell mediators such as hist￭ amine when the food aller￭ gen binds to pre formed i￭ ge antibodies already bound to the m￭ ast cell this mechanism causes allergies to typically give immediate reaction a few minutes to a few hours to foods there are numerous causes for other types of food sensitivities most of which in contrast to food allergies cause delayed hy￭ pers￭ ensi￭ tivity reactions to the food food intoler￭ ances can be classified according to their mechanism intolerance can result from the absence of specific chemicals or enzymes needed to dig￭ est a food substance as in hereditary fructose intolerance it may be a result of an ab￭ normality in the body s ability to absorb nutrients as occurs in fructose mal￭ absorption food intolerance reactions can occur to naturally occurring chemicals in foods as in sal￭ ic￭ y￭ late sensitivity drugs sour￭ ced from plants such as aspir￭ in can also cause these kinds of reactions finally it may be the result of non i￭ ge medi￭ ated immune responses
whip￭ ple s disease
whip￭ ple s disease is a rare systemic infectious disease caused by the bacter￭ ium troph￭ er￭ y￭ ma whip￭ ple￭ i first described by george ho￭ y￭ t whip￭ ple in 1907 and commonly considered a gastro￭ intest￭ inal disorder whip￭ ple s disease primarily causes mal￭ absorption but may affect any part of the body including the heart brain joints skin lungs and the eyes weight loss diarr￭ hea joint pain and ar￭ thri￭ tis are common presenting symptoms but the presentation can be highly variable and approximately 15 of patients do not have these classic signs and symptoms whip￭ ple s disease is significantly more common in men with 87 of the patients being male when recognized and treated whip￭ ple s disease can usually be cured with long term antibiotic therapy if the disease is left untreated it is ultim￭ ate￭ l
short bo￭ wel syndrome
short bo￭ wel syndrome s￭ bs also short gut syndrome or simply short gut is a mal￭ absorption disorder caused by the surgical removal of a large portion of the small intest￭ ine or rarely due to the complete dysfunction of a large segment of small bo￭ wel the primary symptoms is diarr￭ hea which ca result in dehydr￭ ation malnutrition and weight loss
post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome
post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome describes the presence of ab￭ domin￭ al symptoms after surgical removal of the gall￭ blad￭ der chol￭ ec￭ y￭ stec￭ tomy symptoms of post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome may include dy￭ spe￭ p￭ sia naus￭ ea and v￭ om￭ iting flat￭ ul￭ ence blo￭ ating and diarr￭ hea persistent pain in the upper right ab￭ dom￭ en symptoms occur in about 5 to 40 percent of patients who undergo chol￭ ec￭ y￭ stec￭ tomy and can be transi￭ ent persistent or lifelong the chronic condition is diagnosed in approximately 10 of post￭ chol￭ ec￭ y￭ stec￭ tomy cases
post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome describes the presence of ab￭ domin￭ al symptoms after surgical removal of the gall￭ blad￭ der chol￭ ec￭ y￭ stec￭ tomy symptoms of post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome may include dy￭ spe￭ p￭ sia naus￭ ea and v￭ om￭ iting flat￭ ul￭ ence blo￭ ating and diarr￭ hea persistent pain in the upper right ab￭ dom￭ en symptoms occur in about 5 to 40 percent of patients who undergo chol￭ ec￭ y￭ stec￭ tomy and can be transi￭ ent persistent or lifelong the chronic condition is diagnosed in approximately 10 of post￭ chol￭ ec￭ y￭ stec￭ tomy cases the pain associated with post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome is usually ascri￭ bed to either sp￭ h￭ inc￭ ter of od￭ di dysfunction or to post surgical adhe￭ sions a recent study shows that post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome can be caused by bi￭ li￭ ary micro￭ li￭ thi￭ asis approximately 50 of cases are due to bi￭ li￭ ary causes such as remaining stone bi￭ li￭ ary injury dys￭ mo￭ ti￭ lity and cho￭ le￭ do￭ co￭ cyst the remaining 50 are due to non bi￭ li￭ ary causes this is because upper ab￭ domin￭ al pain and gall￭ stones are both common but are not always related chronic diarr￭ hea in post￭ chol￭ ec￭ y￭ stec￭ tomy syndrome is a type of bile acid diarr￭ hea type 3 this can be treated with a bile acid sequestr￭ ant like cho￭ le￭ sty￭ ram￭ ine col￭ esti￭ pol or col￭ es￭ ev￭ el￭ am which may be better tolerated
hem￭ at￭ em￭ esis
hem￭ at￭ em￭ esis or ha￭ em￭ at￭ em￭ esis is the v￭ om￭ iting of blood the source is generally the upper gastro￭ intest￭ inal tract typically above the susp￭ ens￭ ory muscle of du￭ o￭ den￭ um patients can easily confuse it with hem￭ op￭ ty￭ sis cou￭ gh￭ ing up blood although the latter is more common hem￭ at￭ em￭ esis is always an important sign
gastro￭ intest￭ inal bleeding
gastro￭ intest￭ inal bleeding gi bleed also known as gastro￭ intest￭ inal hemorrha￭ ge is all forms of bleeding in the gastro￭ intest￭ inal tract from the mouth to the rec￭ tum when there is significant blood loss over a short time symptoms may include v￭ om￭ iting red blood v￭ om￭ iting black blood bloody sto￭ ol or black sto￭ ol small amounts of bleeding over a long time may cause iron deficiency an￭ emia resulting in feeling tired or heart related chest pain other symptoms may include ab￭ domin￭ al pain short￭ ness of breath pale skin or passing out sometimes in those with small amounts of bleeding no symptoms may be present
gastro￭ intest￭ inal bleeding gi bleed also known as gastro￭ intest￭ inal hemorrha￭ ge is all forms of bleeding in the gastro￭ intest￭ inal tract from the mouth to the rec￭ tum when there is significant blood loss over a short time symptoms may include v￭ om￭ iting red blood v￭ om￭ iting black blood bloody sto￭ ol or black sto￭ ol small amounts of bleeding over a long time may cause iron deficiency an￭ emia resulting in feeling tired or heart related chest pain other symptoms may include ab￭ domin￭ al pain short￭ ness of breath pale skin or passing out sometimes in those with small amounts of bleeding no symptoms may be present bleeding is typically divided into two main types upper gastro￭ intest￭ inal bleeding and lower gastro￭ intest￭ inal bleeding causes of upper gi ble￭ eds include pe￭ ptic ul￭ cer disease es￭ op￭ ha￭ ge￭ al var￭ ices due to liver cir￭ rho￭ sis and cancer among others causes of lower gi ble￭ eds include hemor￭ rho￭ ids cancer and infl￭ am￭ matory bo￭ wel disease among others diagnosis typically begins with a medical history and physical examination along with blood tests small amounts of bleeding may be detected by f￭ ec￭ al oc￭ cult blood test endo￭ sco￭ py of the lower and upper gastro￭ intest￭ inal track may locate the area of bleeding medical imaging may be useful in cases that are not clear initial treatment focuses on resusc￭ itation which may include intra￭ ven￭ ous fluids and blood trans￭ fu￭ sions often blood trans￭ fu￭ sions are not recommended unless the h￭ emo￭ glob￭ in is less than 70 or 80 g l treatment with prot￭ on pump inhi￭ bit￭ ors oc￭ tre￭ o￭ tide and antibiotics may be considered in certain cases if other measures are not effective an es￭ op￭ ha￭ ge￭ al balloon may be attempted in those with per￭ sum￭ ed es￭ op￭ ha￭ ge￭ al var￭ ices endo￭ sco￭ py of the es￭ op￭ ha￭ gus stomach and du￭ o￭ den￭ um or endo￭ sco￭ py of the large bo￭ wel are generally recommended within 24 hours and may allow treatment as well as diagnosis an upper gi bleed is more common than lower gi bleed an upper gi bleed occurs in 50 to 150 per 100 000 adults per year a lower gi bleed is estimated to occur in 20 to 30 per 100 000 per year it results in about 300 000 hospital ad￭ missions a year in the united states risk of death from a gi bleed is between 5 and 30 risk of bleeding is more common in males and increases with age
stap￭ hy￭ lo￭ coc￭ cal scal￭ ded skin syndrome
stap￭ hy￭ lo￭ coc￭ cal scal￭ ded skin syndrome ss￭ ss also known as p￭ emp￭ hi￭ gus ne￭ on￭ at￭ orum or rit￭ ter s disease or loc￭ alized bull￭ ous impe￭ ti￭ go is a der￭ mat￭ ological condition caused by stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us
impe￭ ti￭ go
impe￭ ti￭ go is a bacterial infection that involves the superficial skin the most common presentation is yel￭ low￭ ish cr￭ ust on the face arms or legs less commonly there may be large bl￭ is￭ ters which affect the gro￭ in or ar￭ mp￭ its the le￭ sions may be painful or it￭ chy fever is un￭ common prevention is by hand￭ washing avoiding people who are infected and cleaning injuries treatment is typically with antibiotic cre￭ ams such as mu￭ pi￭ roc￭ in or fu￭ sid￭ ic acid antibiotics by mouth such as cephal￭ ex￭ in may be used if large areas are affected antibiotic resistant forms have been found
abs￭ c￭ ess
an abs￭ c￭ ess latin abs￭ ces￭ sus is a collection of p￭ us that has built up within the tissue of the body signs and symptoms of abs￭ c￭ esses include red￭ ness pain warmth and sw￭ elling the sw￭ elling may feel fluid filled when pressed the area of red￭ ness often extends beyond the sw￭ elling car￭ bun￭ cles and boils are types of abs￭ c￭ ess that often involve hair fol￭ lic￭ les with car￭ bun￭ cles being larger
boil
a boil also called a fur￭ uncle is a deep fol￭ lic￭ u￭ li￭ tis infection of the hair fol￭ lic￭ le it is most commonly caused by infection by the bacter￭ ium stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us resulting in a painful sw￭ oll￭ en area on the skin caused by an accumulation of p￭ us and dead tissue boils which are expanded are basically p￭ us filled no￭ d￭ ules individual boils clu￭ stered together are called car￭ bun￭ cles most human infections are caused by co￭ ag￭ ul￭ ase positive s au￭ re￭ us strains notable for the bacteria s ability to produce co￭ ag￭ ul￭ ase an enzyme that can clo￭ t blood almost any organ system can be infected by s au￭ re￭ us
car￭ bun￭ cle
a car￭ bun￭ cle is a cluster of boils draining p￭ us onto the skin it is usually caused by bacterial infection most commonly with stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us or st￭ rep￭ to￭ co￭ cc￭ us py￭ o￭ genes which can turn lethal however the presence of a car￭ bun￭ cle is actually a sign that the immune system is active and fighting the infection responsible for the car￭ bun￭ cle the infection is contagious and may spread to other areas of the body or other people those living in the same residence may develop car￭ bun￭ cles at the same time
cell￭ u￭ li￭ tis
cell￭ u￭ li￭ tis is a bacterial infection involving the inner layers of the skin it specifically affects the der￭ mis and sub￭ cu￭ taneous fat signs and symptoms include an area of red￭ ness which increases in size over a couple of days the borders of the area of red￭ ness are generally not sharp and the skin may be sw￭ oll￭ en while the red￭ ness often turns white when pressure is applied this is not always the case the area of infection is usually painful lymp￭ h￭ atic vessels may occasionally be involved and the person may have a fever and feel tired
cell￭ u￭ li￭ tis is a bacterial infection involving the inner layers of the skin it specifically affects the der￭ mis and sub￭ cu￭ taneous fat signs and symptoms include an area of red￭ ness which increases in size over a couple of days the borders of the area of red￭ ness are generally not sharp and the skin may be sw￭ oll￭ en while the red￭ ness often turns white when pressure is applied this is not always the case the area of infection is usually painful lymp￭ h￭ atic vessels may occasionally be involved and the person may have a fever and feel tired the legs and face are the most common site involved though cell￭ u￭ li￭ tis can occur on any part of the body the leg is typically affected following a break in the skin other risk factors include obesity leg sw￭ elling and old age for face infections a break in the skin beforehand is not usually the case the bacteria most commonly involved are st￭ rep￭ to￭ coc￭ ci and stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us in contrast to cell￭ u￭ li￭ tis er￭ y￭ si￭ pel￭ as is a bacterial infection involving the more superficial layers of the skin presents with an area of red￭ ness with well defined edges and more often is associated with fever more serious infections such as an underlying bone infection or necro￭ tizing fas￭ ci￭ i￭ tis should be ruled out diagnosis is usually based on the presenting signs and symptoms with cell culture rarely being possible treatment with antibiotics taken by mouth such as cephal￭ ex￭ in am￭ ox￭ ic￭ ill￭ in or clo￭ x￭ ac￭ ill￭ in is often used in those who are seriously allergic to pen￭ ic￭ ill￭ in er￭ y￭ thro￭ my￭ cin or clin￭ dam￭ y￭ cin may be used when meth￭ ic￭ ill￭ in resistant s au￭ re￭ us mr￭ sa is a concern do￭ xy￭ cycl￭ ine or trim￭ eth￭ op￭ rim sul￭ f￭ ame￭ th￭ ox￭ azole may in addition be recommended concern is related to the presence of p￭ us or previous mr￭ sa infections ster￭ oids may speed recovery in those on antibiotics elev￭ ating the infected area may be useful as may pain killers around 95 of people are better after seven to ten days of treatment potential complications include abs￭ c￭ ess formation bacterial skin infections affected about 155 million people and cell￭ u￭ li￭ tis occurred in about 37 million people in 2013 this is about two of every 1000 people per year cell￭ u￭ li￭ tis in 2013 resulted in about 30 000 deaths worldwide in the united kingdom cell￭ u￭ li￭ tis was the reason for 1 6 of ad￭ missions to hospital
par￭ ony￭ ch￭ ia
pil￭ on￭ idal cyst
pil￭ on￭ idal cyst also referred to as a pil￭ on￭ idal abs￭ c￭ ess pil￭ on￭ idal sin￭ us or sacro￭ coc￭ cy￭ ge￭ al f￭ ist￭ ula is a cyst or abs￭ c￭ ess near or on the natal cle￭ ft of the but￭ toc￭ ks that often contains hair and skin debris
er￭ y￭ thr￭ as￭ ma
ec￭ thy￭ ma
ec￭ thy￭ ma is a variation of impe￭ ti￭ go presenting at a deeper level of tissue it is usually associated with group a beta hem￭ ol￭ y￭ tic st￭ rep￭ to￭ co￭ cc￭ us abbreviated gas
p￭ emp￭ hi￭ gus
p￭ emp￭ hi￭ gus ˈ￭ p￭ ɛ￭ m￭ f￭ ɪ￭ ɡ￭ ə￭ s or p￭ ɛ￭ m￭ ˈ￭ fa￭ ɪ￭ ɡ￭ ə￭ s is a rare group of bl￭ is￭ tering auto￭ immune diseases that affect the skin and mu￭ co￭ us memb￭ ran￭ es in p￭ emp￭ hi￭ gus auto￭ antibodies form against des￭ mo￭ gle￭ in des￭ mo￭ gle￭ in forms the glue that attaches adjacent ep￭ id￭ er￭ mal cells via attachment points called des￭ mo￭ som￭ es when auto￭ antibodies attack des￭ mo￭ gle￭ ins the cells become separated from each other and the ep￭ id￭ er￭ mis becomes un￭ glu￭ ed a phenomenon called ac￭ anth￭ ol￭ ysis this causes bl￭ is￭ ters that sl￭ ough off and turn into so￭ res in some cases these bl￭ is￭ ters can cover a significant area of the skin
p￭ emp￭ hi￭ gus vul￭ gar￭ is
p￭ emp￭ hi￭ gus foli￭ ac￭ eus
p￭ emp￭ hi￭ gus foli￭ ac￭ eus is an auto￭ immune bl￭ is￭ tering disease of the skin with characteristic le￭ sions that are scal￭ y cru￭ sted ero￭ sions often on an er￭ y￭ them￭ at￭ ous base mu￭ cos￭ al involvement is absent even with widespread disease if there is an auto￭ immune ig￭ g buil￭ dup in the ep￭ id￭ er￭ mis then nearly all of the antibodies are aimed against des￭ mo￭ gle￭ in 1 the effect of the antibodies and the immun￭ ological path￭ way is most likely either of three mechanisms
ac￭ anth￭ ol￭ ysis
p￭ emp￭ hi￭ go￭ id
p￭ emp￭ hi￭ go￭ id is a group of rare auto￭ immune bl￭ is￭ tering skin diseases as its name indicates p￭ emp￭ hi￭ go￭ id is similar in general appearance to p￭ emp￭ hi￭ gus but unlike p￭ emp￭ hi￭ gus p￭ emp￭ hi￭ go￭ id does not feature ac￭ anth￭ ol￭ ysis a loss of connections between skin cells p￭ emp￭ hi￭ go￭ id is more common than p￭ emp￭ hi￭ gus and is slightly more common in women than in men it is also more common in people over 60 years of age than it is in younger people
bull￭ ous p￭ emp￭ hi￭ go￭ id
bull￭ ous p￭ emp￭ hi￭ go￭ id is an acute or chronic auto￭ immune skin disease involving the formation of bl￭ is￭ ters more appropriately known as bul￭ la￭ e at the space between the skin layers ep￭ id￭ er￭ mis and der￭ mis it is classified as a type ii hy￭ pers￭ ensi￭ tivity reaction with the formation of anti hem￭ id￭ es￭ mo￭ some antibodies
der￭ mati￭ tis her￭ peti￭ form￭ is
der￭ mati￭ tis her￭ peti￭ form￭ is dh or du￭ h￭ ring s disease is a chronic bl￭ is￭ tering skin condition characterised by bl￭ is￭ ters filled with a wat￭ ery fluid despite its name dh is neither related to nor caused by her￭ pes virus the name means that it is a skin infl￭ amm￭ ation having an appearance similar to her￭ pes dh was first described by louis adol￭ ph￭ us du￭ h￭ ring in 18￭ 84 a connection between dh and co￭ eli￭ ac disease was recognised in 1967 although the exact causal mechanism is not known dh is a specific manifestation of co￭ eli￭ ac disease
at￭ op￭ ic der￭ mati￭ tis
at￭ op￭ ic der￭ mati￭ tis ad also known as at￭ op￭ ic ecz￭ ema is a type of infl￭ amm￭ ation of the skin der￭ mati￭ tis it results in it￭ chy red sw￭ oll￭ en and cracked skin clear fluid may come from the affected areas which often thick￭ en over time the condition typically starts in childhood with changing severity over the years in children under one year of age much of the body may be affected as people get older the back of the knees and front of the el￭ bows are the most common areas affected in adults the hands and feet are the most commonly affected areas scrat￭ ching wor￭ sens symptoms and affected people have an increased risk of skin infections many people with at￭ op￭ ic der￭ mati￭ tis develop hay fever or asthma
at￭ op￭ ic der￭ mati￭ tis ad also known as at￭ op￭ ic ecz￭ ema is a type of infl￭ amm￭ ation of the skin der￭ mati￭ tis it results in it￭ chy red sw￭ oll￭ en and cracked skin clear fluid may come from the affected areas which often thick￭ en over time the condition typically starts in childhood with changing severity over the years in children under one year of age much of the body may be affected as people get older the back of the knees and front of the el￭ bows are the most common areas affected in adults the hands and feet are the most commonly affected areas scrat￭ ching wor￭ sens symptoms and affected people have an increased risk of skin infections many people with at￭ op￭ ic der￭ mati￭ tis develop hay fever or asthma the cause is unknown but believed to involve genetics immune system dysfunction environmental exposures and difficulties with the perme￭ ability of the skin if one identical twin is affected there is an 85 chance the other also has the condition those who live in cities and dry clim￭ ates are more commonly affected exposure to certain chemicals or frequent hand washing makes symptoms worse while emotional stress may make the symptoms worse it is not a cause the disorder is not contagious the diagnosis is typically based on the signs and symptoms other diseases that must be excluded before making a diagnosis include contact der￭ mati￭ tis ps￭ ori￭ asis and se￭ bor￭ rhe￭ ic der￭ mati￭ tis treatment involves avoiding things that make the condition worse daily bathing with application of a mois￭ tur￭ ising cream afterwards applying ster￭ o￭ id cre￭ ams when fla￭ res occur and medications to help with it￭ chin￭ ess things that commonly make it worse include wool clothing so￭ aps perf￭ umes chlorine dust and cigarette smoke photo￭ therapy may be useful in some people ster￭ o￭ id pills or cre￭ ams based on cal￭ cin￭ eur￭ in inhi￭ bit￭ ors may occasionally be used if other measures are not effective antibiotics either by mouth or top￭ ically may be needed if a bacterial infection develops dietary changes are only needed if food allergies are suspected at￭ op￭ ic der￭ mati￭ tis affects about 20 of people at some point in their lives it is more common in younger children males and females are equally affected many people out￭ grow the condition at￭ op￭ ic der￭ mati￭ tis is sometimes called ecz￭ ema a term that also refers to a larger group of skin conditions other names include inf￭ anti￭ le ecz￭ ema fl￭ ex￭ ural ecz￭ ema pr￭ uri￭ go bes￭ nier allergic ecz￭ ema and neuro￭ der￭ mati￭ tis
der￭ mati￭ tis
der￭ mati￭ tis also known as ecz￭ ema is a group of diseases that results in infl￭ amm￭ ation of the skin these diseases are characterized by it￭ chin￭ ess red skin and a rash in cases of short duration there may be small bl￭ is￭ ters while in long term cases the skin may become thick￭ ened the area of skin involved can vary from small to the entire body
der￭ mati￭ tis also known as ecz￭ ema is a group of diseases that results in infl￭ amm￭ ation of the skin these diseases are characterized by it￭ chin￭ ess red skin and a rash in cases of short duration there may be small bl￭ is￭ ters while in long term cases the skin may become thick￭ ened the area of skin involved can vary from small to the entire body der￭ mati￭ tis is a group of skin conditions that includes at￭ op￭ ic der￭ mati￭ tis allergic contact der￭ mati￭ tis irrit￭ ant contact der￭ mati￭ tis and st￭ asis der￭ mati￭ tis the exact cause of der￭ mati￭ tis is often unclear cases are believed to often involve a combination of irritation allergy and poor ven￭ ous return the type of der￭ mati￭ tis is generally determined by the person s history and the location of the rash for example irrit￭ ant der￭ mati￭ tis often occurs on the hands of people who frequently get them wet allergic contact der￭ mati￭ tis however can occur following brief exposures to specific substances to which a person is sensitive treatment of at￭ op￭ ic der￭ mati￭ tis is typically with mois￭ tur￭ iz￭ ers and ster￭ o￭ id cre￭ ams the ster￭ o￭ id cre￭ ams should generally be of mid to high strength and used for less than two weeks at a time as side effects can occur antibiotics may be required if there are signs of skin infection contact der￭ mati￭ tis is typically treated by avoiding the aller￭ gen or irrit￭ ant anti￭ hist￭ am￭ ines may be used to help with sleep and to decrease night￭ time scrat￭ ching der￭ mati￭ tis was estimated to affect 334 million people globally in 2013 at￭ op￭ ic der￭ mati￭ tis is the most common type and generally starts in childhood in the united states it affects about 10 30 of people contact der￭ mati￭ tis is two times more common in females than males allergic contact der￭ mati￭ tis affects about 7 of people at some point in time irrit￭ ant contact der￭ mati￭ tis is common especially among people who do certain jobs however exact rates are unclear
hand ecz￭ ema
hand ecz￭ ema presents on the pal￭ ms and sol￭ es and may sometimes be difficult or impossible to differentiate from at￭ op￭ ic der￭ mati￭ tis allergic contact der￭ mati￭ tis and ps￭ ori￭ asis which also commonly involve the hands even a biopsy of all these conditions may not result in a definitive diagnosis as all three conditions may demonstrate spongi￭ osis and cru￭ sting on the hands
hand ecz￭ ema presents on the pal￭ ms and sol￭ es and may sometimes be difficult or impossible to differentiate from at￭ op￭ ic der￭ mati￭ tis allergic contact der￭ mati￭ tis and ps￭ ori￭ asis which also commonly involve the hands even a biopsy of all these conditions may not result in a definitive diagnosis as all three conditions may demonstrate spongi￭ osis and cru￭ sting on the hands non communicable infl￭ amm￭ ation of the skin of the hands is referred to as hand ecz￭ ema hand ecz￭ ema is widely prevalent and as it is a very visible condition associated with severe it￭ ching or pain has serious consequences for the affected person including a high psychological impact different disease patterns can be identified according to the course of the illness appearance of symptoms degree of severity or cataly￭ sts prog￭ no￭ sis is hard to predict for individual cases of chronic hand ecz￭ ema and usually differs from patient to patient successful treatment depends on determining the causes of the condition obtaining an accurate diagnosis sustainable hand protection procedures and an early extensive and where appropriate internal treatment
se￭ bor￭ rho￭ e￭ ic der￭ mati￭ tis
se￭ bor￭ rhe￭ ic der￭ mati￭ tis also known as se￭ bor￭ rhe￭ ic ecz￭ ema or simply as se￭ bor￭ rhe￭ a is a chronic relap￭ sing and usually mild der￭ mati￭ tis in infants se￭ bor￭ rhe￭ ic der￭ mati￭ tis is called cradle cap d￭ and￭ ru￭ ff is a type of se￭ bor￭ rho￭ e￭ ic der￭ mati￭ tis where infl￭ amm￭ ation is not present se￭ bor￭ rhe￭ ic der￭ mati￭ tis is a skin disorder affecting the scal￭ p face and tor￭ so typically se￭ bor￭ rhe￭ ic der￭ mati￭ tis presents with scal￭ y fla￭ ky it￭ chy and red skin it particularly affects the se￭ bac￭ eous g￭ land rich areas of skin in adolescents and adults se￭ bor￭ rho￭ e￭ ic der￭ mati￭ tis usually presents as scal￭ p scaling or as red￭ ness of the nas￭ ol￭ ab￭ ial fold
cradle cap
cradle cap is a yel￭ low￭ ish pat￭ chy gre￭ asy scal￭ y and cru￭ sty skin rash that occurs on the scal￭ p of recently born babies it is usually not it￭ chy and does not bother the baby cradle cap most commonly begins sometime in the first 3 months similar symptoms in older children are more likely to be d￭ and￭ ru￭ ff than cradle cap the rash is often prominent around the ear the eyebro￭ ws or the eye￭ li￭ ds it may appear in other locations as well where it is called se￭ bor￭ rho￭ e￭ ic der￭ mati￭ tis rather than cradle cap some countries use the term pit￭ y￭ ri￭ asis cap￭ i￭ tis for cradle cap it is extremely common with about half of all babies affected most of them have a mild version of the disorder severe cradle cap is rare
irrit￭ ant di￭ aper der￭ mati￭ tis
irrit￭ ant di￭ aper der￭ mati￭ tis is a generic term applied to skin r￭ ashes in the di￭ aper area that are caused by various skin disorders and or irrit￭ ants generic rash or irrit￭ ant di￭ aper der￭ mati￭ tis id￭ d is characterized by joined pat￭ ches of er￭ y￭ them￭ a and scaling mainly seen on the conv￭ ex surfaces with the skin fol￭ ds spared di￭ aper der￭ mati￭ tis with secondary bacterial or fun￭ gal involvement tends to spread to con￭ cave surfaces i e skin fol￭ ds as well as conv￭ ex surfaces and often exhi￭ bits a central red be￭ ef￭ y er￭ y￭ them￭ a with satellite pu￭ st￭ ules around the border
irrit￭ ant di￭ aper der￭ mati￭ tis is a generic term applied to skin r￭ ashes in the di￭ aper area that are caused by various skin disorders and or irrit￭ ants generic rash or irrit￭ ant di￭ aper der￭ mati￭ tis id￭ d is characterized by joined pat￭ ches of er￭ y￭ them￭ a and scaling mainly seen on the conv￭ ex surfaces with the skin fol￭ ds spared di￭ aper der￭ mati￭ tis with secondary bacterial or fun￭ gal involvement tends to spread to con￭ cave surfaces i e skin fol￭ ds as well as conv￭ ex surfaces and often exhi￭ bits a central red be￭ ef￭ y er￭ y￭ them￭ a with satellite pu￭ st￭ ules around the border it is usually considered a form of irrit￭ ant contact der￭ mati￭ tis despite the word di￭ aper in the name the der￭ mati￭ tis is not due to the di￭ aper itself but to the materials trapped by the di￭ aper usually f￭ ec￭ es allergic contact der￭ mati￭ tis has also been suggested but there is little evidence for this eti￭ ology the term di￭ aper candi￭ di￭ asis is used when a fun￭ gal origin is identified the distinction is critical because the treatment anti￭ fun￭ g￭ als is completely different
irrit￭ ant contact der￭ mati￭ tis
irrit￭ ant contact der￭ mati￭ tis is a form of contact der￭ mati￭ tis that can be divided into forms caused by chemical irrit￭ ants and those caused by physical irrit￭ ants
contact der￭ mati￭ tis
er￭ y￭ thro￭ der￭ ma
drug eruption
in medicine a drug eruption is an adverse drug reaction of the skin most drug induced cu￭ taneous reactions are mild and disappear when the offending drug is withdrawn these are called simple drug erup￭ tions however more serious drug erup￭ tions may be associated with organ injury such as liver or kidney damage and are categ￭ orized as complex drugs can also cause hair and nail changes affect the mu￭ co￭ us memb￭ ran￭ es or cause it￭ ching without outward skin changes
lichen simpl￭ ex ch￭ ron￭ ic￭ us
lichen simpl￭ ex ch￭ ron￭ ic￭ us also known as neuro￭ der￭ mati￭ tis is a skin disorder characterized by chronic it￭ ching and scrat￭ ching the constant scrat￭ ching causes thick lea￭ ther￭ y bro￭ wn￭ ish skin this condition is more common between ages 30 and 50 and is seen more in women than in men
itch
itch also known as pr￭ ur￭ it￭ us is a sensation that causes the desire or reflex to scratch itch has resisted many attempts to classify it as any one type of sensory experience modern science has shown that itch has many similarities to pain and while both are unpleasant sensory experiences their behavioral response patterns are different pain creates a withdrawal reflex whereas itch leads to a scratch reflex
itch also known as pr￭ ur￭ it￭ us is a sensation that causes the desire or reflex to scratch itch has resisted many attempts to classify it as any one type of sensory experience modern science has shown that itch has many similarities to pain and while both are unpleasant sensory experiences their behavioral response patterns are different pain creates a withdrawal reflex whereas itch leads to a scratch reflex un￭ my￭ el￭ inated nerve fi￭ bers for itch and pain both originate in the skin however information for them is conveyed centrally in two distinct systems that both use the same nerve bundle and spin￭ o￭ thal￭ am￭ ic tract
pr￭ ur￭ it￭ us ani
aqu￭ agen￭ ic pr￭ ur￭ it￭ us
dy￭ sh￭ id￭ ro￭ sis
dy￭ sh￭ id￭ ro￭ sis is a type of der￭ mati￭ tis that is characterized by it￭ chy bl￭ is￭ ters on the pal￭ ms of the hands and bott￭ oms of the feet the bl￭ ister are generally one to two milli￭ meters in size and heal over three weeks red￭ ness is not usually present they however often recur repeated attacks may result in f￭ issu￭ res and skin thick￭ ening about 1 in 2 000 people are affected in sweden males and females appear to be affected equally the first description was in 18￭ 73 the name comes from the word dy￭ sh￭ id￭ ro￭ tic meaning difficult swe￭ ating as problems with swe￭ ating was once believed to be the cause
id reaction
id reactions also known as disseminated ecz￭ ema and generalized ecz￭ ema present with a variety of infectious disorders often occurring in response to an infl￭ am￭ matory tin￭ ea of the feet resulting in an ec￭ zem￭ at￭ ous der￭ mati￭ tis the infl￭ amm￭ ation is in the absence of a locally visible cause
inter￭ tri￭ go
an inter￭ tri￭ go is an infl￭ amm￭ ation rash of the body fol￭ ds adjacent areas of skin the term inter￭ tri￭ go commonly refers to a bacterial fun￭ gal or viral infection that has developed at the site of broken skin due to such infl￭ amm￭ ation a frequent manifestation is candi￭ dal inter￭ tri￭ go
pit￭ y￭ ri￭ asis alba
ps￭ ori￭ asis
ps￭ ori￭ asis is a long lasting auto￭ immune disease which is characterized by pat￭ ches of abnormal skin these skin pat￭ ches are typically red it￭ chy and scal￭ y they may vary in severity from small and loc￭ alized to complete body coverage injury to the skin can trigger ps￭ ori￭ atic skin changes at that spot which is known as ko￭ eb￭ ner phenomenon
ps￭ ori￭ asis is a long lasting auto￭ immune disease which is characterized by pat￭ ches of abnormal skin these skin pat￭ ches are typically red it￭ chy and scal￭ y they may vary in severity from small and loc￭ alized to complete body coverage injury to the skin can trigger ps￭ ori￭ atic skin changes at that spot which is known as ko￭ eb￭ ner phenomenon there are five main types of ps￭ ori￭ asis pla￭ que gu￭ tt￭ ate in￭ verse pu￭ st￭ ular and er￭ y￭ thro￭ der￭ mic pla￭ que ps￭ ori￭ asis also known as ps￭ ori￭ asis vul￭ gar￭ is makes up about 90 of cases it typically presents with red pat￭ ches with white scales on top areas of the body most commonly affected are the back of the fore￭ arms sh￭ ins around the na￭ vel and the scal￭ p gu￭ tt￭ ate ps￭ ori￭ asis has drop shaped le￭ sions pu￭ st￭ ular ps￭ ori￭ asis presents with small non infectious p￭ us filled bl￭ is￭ ters in￭ verse ps￭ ori￭ asis forms red pat￭ ches in skin fol￭ ds er￭ y￭ thro￭ der￭ mic ps￭ ori￭ asis occurs when the rash becomes very widespread and can develop from any of the other types finger￭ nails and to￭ en￭ ails are affected in most people at some point in time this may include pits in the nails or changes in nail color ps￭ ori￭ asis is generally thought to be a genetic disease which is triggered by environmental factors in twin studies identical twins are three times more likely to both be affected compared to non identical twins this suggests that genetic factors pre￭ dispose to ps￭ ori￭ asis symptoms often worsen during winter and with certain medications such as beta bloc￭ kers or n￭ s￭ aids infections and psychological stress may also play a role ps￭ ori￭ asis is not contagious the underlying mechanism involves the immune system reacting to skin cells diagnosis is typically based on the signs and symptoms there is no cure for ps￭ ori￭ asis however various treatments can help control the symptoms these treatments may include ster￭ o￭ id cre￭ ams vitamin d 3 cream ultra￭ violet light and immune system suppressing medications such as meth￭ o￭ tre￭ x￭ ate about 75 of cases can be managed with cre￭ ams alone the disease affects 2 – 4 of the population men and women are affected with equal frequency the disease may begin at any age ps￭ ori￭ asis is associated with an increased risk of ps￭ ori￭ atic ar￭ thri￭ tis lymp￭ hom￭ as cardiovascular disease cro￭ hn s disease and depression ps￭ ori￭ atic ar￭ thri￭ tis affects up to 30 of individuals with ps￭ ori￭ asis
ps￭ ori￭ atic ar￭ thri￭ tis
par￭ ap￭ s￭ ori￭ asis
pit￭ y￭ ri￭ asis lic￭ hen￭ o￭ ides et vari￭ oli￭ form￭ is acu￭ ta
lymp￭ hom￭ ato￭ id pap￭ ul￭ osis
pit￭ y￭ ri￭ asis ro￭ sea
pit￭ y￭ ri￭ asis ro￭ sea also known as pit￭ y￭ ri￭ asis ro￭ sea gi￭ bert is a skin rash it is benign but may inflict substantial discomfort in certain cases class￭ ically it begins with a single herald patch le￭ sion followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks however usually around 6 8
lichen plan￭ us
lichen plan￭ us l￭ p is an un￭ common disease of the skin with a prevalence reported between 0 1 – 0 3 in men and women respectively the cause is unknown but it is thought to be the result of an auto￭ immune process with an unknown initial trigger there is no cure but many different medications and procedures have been used in efforts to control the symptoms
pit￭ y￭ ri￭ asis ru￭ bra pil￭ aris
pit￭ y￭ ri￭ asis ru￭ bra pil￭ aris also known as de￭ ver￭ gie s disease lichen ru￭ ber acu￭ min￭ atus and lichen ru￭ ber pil￭ aris refers to a group of chronic disorders characterized by red￭ dish orange scaling pl￭ aqu￭ es and ker￭ ato￭ tic fol￭ lic￭ ular pap￭ ules symptoms may include red￭ dish orange pat￭ ches latin ru￭ bra on the skin severe fla￭ king latin pit￭ y￭ ri￭ asis uncomfortable it￭ ching thick￭ ening of the skin on the feet and hands and thick￭ ened bu￭ mps around hair fol￭ lic￭ les latin pil￭ us for hair for some early symptoms may also include generalized sw￭ elling of the legs feet and other parts of the body pr￭ p has a varied clinical progression and a varied rate of improvement there is no known cause or cure although stress is a common factor
gian￭ otti – cro￭ sti syndrome
hi￭ ves
hi￭ ves also known as ur￭ tic￭ aria is a kind of skin rash with red raised it￭ chy bu￭ mps they may also burn or sting often the pat￭ ches of rash move around typically they last a few days and do not leave any long lasting skin changes fewer than 5 of cases last for more than six weeks the condition frequently rec￭ urs
hi￭ ves also known as ur￭ tic￭ aria is a kind of skin rash with red raised it￭ chy bu￭ mps they may also burn or sting often the pat￭ ches of rash move around typically they last a few days and do not leave any long lasting skin changes fewer than 5 of cases last for more than six weeks the condition frequently rec￭ urs hi￭ ves frequently occur following an infection or as a result of an allergic reaction such as to medication insect bites or food psychological stress cold temperature or vibration may also be a trigger in half of cases the cause remains unknown risk factors include having conditions such as hay fever or asthma diagnosis is typically based on the appearance patch testing may be useful to determine the allergy prevention is by avoiding whatever it is that causes the condition treatment is typically with anti￭ hist￭ am￭ ines such as di￭ phen￭ hy￭ dram￭ ine and ran￭ i￭ ti￭ dine in severe cases cor￭ ti￭ co￭ ster￭ oids or leuko￭ tri￭ ene inhi￭ bit￭ ors may also be used keeping the environmental temperature cool is also useful for cases that last more than six weeks immun￭ o￭ sup￭ pres￭ s￭ ants such as cic￭ los￭ por￭ in may be used about 20 of people are affected cases of short duration occur equally in males and females while cases of long duration are more common in females cases of short duration are more common among children while cases of long duration are more common among those who are middle aged hi￭ ves have been described at least since the time of hippo￭ crates the term ur￭ tic￭ aria is from the latin ur￭ tica meaning net￭ tle
der￭ mato￭ graphic ur￭ tic￭ aria
der￭ mato￭ graphic ur￭ tic￭ aria also known as der￭ mo￭ graph￭ ism der￭ mato￭ graph￭ ism or skin writing is a skin disorder and one of the most common types of ur￭ tic￭ aria affecting 4 – 5 of the population
aqu￭ agen￭ ic ur￭ tic￭ aria
er￭ y￭ them￭ a multi￭ forme
er￭ y￭ them￭ a
stevens – johnson syndrome
stevens – johnson syndrome a form of toxic ep￭ id￭ er￭ mal nec￭ rol￭ ysis is a life threatening skin condition in which cell death causes the ep￭ id￭ er￭ mis to separate from the der￭ mis the syndrome is thought to be a hy￭ pers￭ ensi￭ tivity complex that affects the skin and the mu￭ co￭ us memb￭ ran￭ es the best known causes are certain medications such as lam￭ o￭ tri￭ gine but it can also be due to infections or more rarely cancers
toxic ep￭ id￭ er￭ mal nec￭ rol￭ ysis
toxic ep￭ id￭ er￭ mal nec￭ rol￭ ysis ten also known as ly￭ ell s syndrome is a rare life threatening skin condition that is usually caused by a reaction to drugs the disease causes the top layer of skin the ep￭ id￭ er￭ mis to det￭ ach from the lower layers of the skin the der￭ mis all over the body leaving the body susceptible to severe infection the case fat￭ ality ratio ranges from 25 to 30 and death usually occurs as a result of sep￭ sis and subsequent multi￭ organ system failure treatment primarily involves dis￭ continuing the use of caus￭ ative agent s and supportive care in either the intensive care unit or burn unit of a hospital
er￭ y￭ them￭ a no￭ do￭ sum
pal￭ mar er￭ y￭ them￭ a
pal￭ mar er￭ y￭ them￭ a is red￭ dening of the pal￭ ms at the th￭ en￭ ar and hypo￭ th￭ en￭ ar emin￭ ences
sun￭ burn
sun￭ burn is a form of radiation burn that affects living tissue such as skin that results from an over￭ exposure to ultra￭ violet u￭ v radiation commonly from the sun common symptoms in humans and other animals include red or red￭ dish skin that is hot to the touch pain general fatigue and mild di￭ zz￭ iness an excess of u￭ v radiation can be life threatening in extreme cases exposure of the skin to lesser amounts of u￭ v radiation will often produce a sun￭ tan
sun￭ burn is a form of radiation burn that affects living tissue such as skin that results from an over￭ exposure to ultra￭ violet u￭ v radiation commonly from the sun common symptoms in humans and other animals include red or red￭ dish skin that is hot to the touch pain general fatigue and mild di￭ zz￭ iness an excess of u￭ v radiation can be life threatening in extreme cases exposure of the skin to lesser amounts of u￭ v radiation will often produce a sun￭ tan excessive u￭ v radiation is the leading cause of primarily non m￭ align￭ ant skin tumors sun￭ screen is widely agreed to prevent sun￭ burn and some types of skin cancer clothing including hats is considered the preferred skin protection method moderate sun tann￭ ing without burning can also prevent subsequent sun￭ burn as it increases the amount of mel￭ an￭ in a photo￭ protective pig￭ ment that is the skin s natural defense against over￭ exposure importantly both sun￭ burn and the increase in mel￭ an￭ in production are triggered by direct dna damage when the skin cells dna is overly damaged by u￭ v radiation type i cell death is triggered and the skin is replaced
phy￭ top￭ ho￭ to￭ der￭ mati￭ tis
phy￭ top￭ ho￭ to￭ der￭ mati￭ tis also known as lime disease not to be confused with ly￭ me disease ber￭ lo￭ que der￭ mati￭ tis or mar￭ gar￭ ita photo￭ der￭ mati￭ tis is a chemical reaction which makes skin hy￭ pers￭ ensi￭ tive to ultra￭ violet light it is frequently mistaken for hereditary conditions such as at￭ op￭ ic der￭ mati￭ tis or chemical burns but it is caused by contact with the photo￭ sensi￭ tizing compounds found naturally in some plants and vegetables like par￭ snip￭ s citrus fruits and more symptoms include burning it￭ ching st￭ inging and large bl￭ is￭ ters that slowly accumulate over time
solar ur￭ tic￭ aria
solar ur￭ tic￭ aria su is a rare condition in which exposure to ultra￭ violet or u￭ v radiation or sometimes even visible light induc￭ es a case of ur￭ tic￭ aria or hi￭ ves that can appear in both covered and uncovered areas of the skin it is classified as a type of physical ur￭ tic￭ aria the classification of disease types is somewhat controversial one classification system distinguished various types of su based on the wa￭ vel￭ eng￭ th of the radiation that causes the break￭ out another classification system is based on the type of aller￭ gen that initiates a break￭ out
ac￭ ne a￭ esti￭ val￭ is
ac￭ ne a￭ esti￭ val￭ is also known as mall￭ or￭ ca ac￭ ne is a special form of poly￭ morph￭ ous light eruption it is a mon￭ om￭ orph￭ ous eruption consisting of multiple uniform red pap￭ ular le￭ sions reported to occur after sun exposure
poly￭ morph￭ ous light eruption
poly￭ morph￭ ous light eruption ple or poly￭ morph￭ ic light eruption p￭ m￭ le is a skin condition triggered by sunlight
ac￭ tin￭ ic ker￭ at￭ osis
ac￭ tin￭ ic ker￭ at￭ osis also called solar ker￭ at￭ osis and sen￭ ile ker￭ at￭ osis abbreviated as ak is a pre can￭ cer￭ ous patch of thick scal￭ y or cru￭ sty skin these grow￭ ths are more common in fair skin￭ ned people and those who are frequently in the sun they usually form when skin gets damaged by ultra￭ violet u￭ v radiation from the sun or indoor tann￭ ing beds aks are considered potentially pre can￭ cer￭ ous left untreated they may turn into a type of cancer called squ￭ am￭ ous cell carcin￭ oma untreated le￭ sions have up to a 20 risk of progression to squ￭ am￭ ous cell carcin￭ oma so treatment by a der￭ mato￭ logist is recommended
ac￭ tin￭ ic ker￭ at￭ osis also called solar ker￭ at￭ osis and sen￭ ile ker￭ at￭ osis abbreviated as ak is a pre can￭ cer￭ ous patch of thick scal￭ y or cru￭ sty skin these grow￭ ths are more common in fair skin￭ ned people and those who are frequently in the sun they usually form when skin gets damaged by ultra￭ violet u￭ v radiation from the sun or indoor tann￭ ing beds aks are considered potentially pre can￭ cer￭ ous left untreated they may turn into a type of cancer called squ￭ am￭ ous cell carcin￭ oma untreated le￭ sions have up to a 20 risk of progression to squ￭ am￭ ous cell carcin￭ oma so treatment by a der￭ mato￭ logist is recommended development of these grow￭ ths occurs when skin is constantly exposed to the sun over time they usually appear as thick scal￭ y or cru￭ sty areas that often feel dry or rough in fact aks are often felt before they are seen and the tex￭ ture is often compared to sand￭ paper they may be dark light tan pink red a combination of all these or have the same color as the surrounding skin an ac￭ tin￭ ic ker￭ at￭ osis le￭ sion commonly ranges between 2 and 6 milli￭ meters in size but can grow to be a few centi￭ meters in diameter they often appear on sun exposed areas of the skin such as the face ears neck scal￭ p chest backs of hands fore￭ arms or lips because they are related to sun damage on the skin most people who have an ak have more than one often large areas of sun exposed skin are diagnosed with a continu￭ um of multiple clin￭ ically visible aks of different sizes and sever￭ ities typically accompanied by sub￭ clinical le￭ sions that become apparent only in biop￭ sies this concept of a skin area showing multiple aks is termed field can￭ cer￭ ization diagnosis is suspected clin￭ ically on physical exam but can be confirmed by looking at cells from the le￭ sion under a micro￭ scope different therapeutic options for ak are available photo￭ dynamic therapy p￭ dt is recommended for the treatment of multiple ak le￭ sions and field can￭ cer￭ ization it involves the application of a photo￭ sensi￭ tiz￭ er to the skin followed by illumin￭ ation with a strong light source topical cre￭ ams may require daily application to affected skin areas over longer time periods cry￭ otherapy is frequently used for single le￭ sions but un￭ desired hypo￭ pi￭ gm￭ entation may occur at the treatment site by following up with a der￭ mato￭ logist aks can be treated before they turn into skin cancer if skin cancer does develop from an ak le￭ sion it can be caught early with close monitoring at a time when treatment can be cur￭ ative
cu￭ tis la￭ xa
cu￭ tis la￭ xa also known as chal￭ az￭ o￭ der￭ ma der￭ mat￭ och￭ al￭ asia der￭ mat￭ ol￭ ysis der￭ mat￭ om￭ eg￭ al￭ y generalized el￭ ast￭ ol￭ ysis generalized el￭ ast￭ or￭ rh￭ ex￭ is or p￭ ach￭ y￭ der￭ mat￭ oce￭ le is a group of rare connec￭ tive tissue disorders in which the skin becomes in￭ elastic and hangs loosely in fol￭ ds
photo￭ der￭ mati￭ tis
photo￭ der￭ mati￭ tis sometimes referred to as sun poisoning or photo￭ allergy is a form of allergic contact der￭ mati￭ tis in which the aller￭ gen must be activated by light to sensi￭ tize the allergic response and to cause a rash or other systemic effects on subsequent exposure the second and subsequent exposures produce photo￭ allergic skin conditions which are often ec￭ zem￭ at￭ ous in rare cases the victims die
radiation burn
a radiation burn is damage to the skin or other biological tissue caused by exposure to radiation the radiation types of greatest concern are thermal radiation radio frequency energy ultra￭ violet light and ionizing radiation
a radiation burn is damage to the skin or other biological tissue caused by exposure to radiation the radiation types of greatest concern are thermal radiation radio frequency energy ultra￭ violet light and ionizing radiation the most common type of radiation burn is a sun￭ burn caused by u￭ v radiation high exposure to x rays during diagnostic medical imaging or radi￭ otherapy can also result in radiation burns as the ionizing radiation inter￭ acts with cells within the body — damaging them — the body responds to this damage typically resulting in er￭ y￭ them￭ a — that is red￭ ness around the damaged area radiation burns are often associated with radiation induced cancer due to the ability of ionizing radiation to interact with and damage dna occasionally inducing a cell to become can￭ cer￭ ous cav￭ ity mag￭ net￭ ron￭ s can be improperly used to create surface and internal burning depending on the pho￭ ton energy gam￭ ma radiation can cause very deep gam￭ ma burns with 60 co internal burns are common beta burns tend to be shallow as beta particles are not able to penetrate deep into the person these burns can be similar to sun￭ burn radiation burns can also occur with high power radio transmitters at any frequency where the body absor￭ bs radio frequency energy and conver￭ ts it to heat the u s federal communications commission f￭ cc considers 50 watts to be the lowest power above which radio stations must evaluate emission safety frequencies considered especially dangerous occur where the human body can become reson￭ ant at 35 mhz 70 mhz 80 100 mhz 400 mhz and 1 ghz exposure to micro￭ waves of too high intensity can cause microwave burns
er￭ y￭ them￭ a ab ign￭ e
er￭ y￭ them￭ a ab ign￭ e e￭ ai also known as hot water bottle rash fire stain￭ s lap￭ top thi￭ gh granny s tar￭ tan and to￭ asted skin syndrome is a skin condition caused by long term exposure to heat infra￭ red radiation prolonged thermal radiation exposure to the skin can lead to the development of retic￭ ulated er￭ y￭ them￭ a hyper￭ pi￭ gm￭ entation scaling and tel￭ an￭ gi￭ ec￭ ta￭ si￭ as in the affected area some people may complain of mild it￭ chin￭ ess and a burning sensation but often unless a change in pi￭ gm￭ entation is seen it can go unnoticed
ing￭ ro￭ wn nail
ony￭ cho￭ cry￭ pto￭ sis from greek ὄ￭ ν￭ υ￭ ξ ony￭ x nail κρ￭ υπ￭ τ￭ ός kry￭ p￭ tos hidden also known as an ing￭ ro￭ wn to￭ en￭ ail or un￭ gu￭ is incar￭ n￭ ates is a common form of nail disease it is an often painful condition in which the nail grows so that it cuts into one or both sides of the par￭ ony￭ chi￭ um or nail bed a true ing￭ ro￭ wn to￭ en￭ ail or ony￭ cho￭ cry￭ pto￭ sis is caused by the actual penetration of flesh by a sli￭ ver of nail
ony￭ cho￭ cry￭ pto￭ sis from greek ὄ￭ ν￭ υ￭ ξ ony￭ x nail κρ￭ υπ￭ τ￭ ός kry￭ p￭ tos hidden also known as an ing￭ ro￭ wn to￭ en￭ ail or un￭ gu￭ is incar￭ n￭ ates is a common form of nail disease it is an often painful condition in which the nail grows so that it cuts into one or both sides of the par￭ ony￭ chi￭ um or nail bed the common opinion is that the nail enters inside the par￭ ony￭ chi￭ um but an ing￭ ro￭ wn to￭ en￭ ail can simply be over￭ grown toe skin the condition starts from a micro￭ bial infl￭ amm￭ ation of the par￭ ony￭ chi￭ um then a gran￭ ul￭ oma which results in a nail buried inside of the gran￭ ul￭ oma while ing￭ ro￭ wn nails can occur in the nails of both the hands and the feet they occur most commonly with the to￭ en￭ ails a true ing￭ ro￭ wn to￭ en￭ ail or ony￭ cho￭ cry￭ pto￭ sis is caused by the actual penetration of flesh by a sli￭ ver of nail
ony￭ chau￭ x￭ is
ony￭ chau￭ x￭ is presents with thick￭ ened nails without de￭ form￭ ity and this simple thick￭ ening may be the result of trauma acro￭ me￭ gal￭ y d￭ ari￭ er s disease ps￭ ori￭ asis or pit￭ y￭ ri￭ asis ru￭ bra pil￭ aris or in some cases hereditary
ko￭ il￭ ony￭ ch￭ ia
ko￭ il￭ ony￭ ch￭ ia from the greek ko￭ i￭ los hollow on￭ ik￭ h nail also known as spoon nails is a nail disease that can be a sign of hypo￭ ch￭ rom￭ ic an￭ emia especially iron deficiency an￭ emia it refers to abnormally thin nails usually of the hand which have lost their con￭ vex￭ ity becoming flat or even con￭ cave in shape in a sense ko￭ il￭ ony￭ ch￭ ia is the opposite of nail clu￭ bbing in early stages nails may be brit￭ tle and chip or brea￭ ke￭ asi￭ ly ko￭ il￭ ony￭ ch￭ ia is associated with plum￭ mer vin￭ son syndrome and iron deficiency an￭ emia
beau s lines
beau s lines are deep gro￭ o￭ ved lines that run from side to side on the finger￭ nail or the to￭ en￭ ail they may look like ind￭ ent￭ ations or ri￭ dges in the nail plate this condition of the nail was named by a french physician joseph honor￭ é simon beau 18￭ 06 – 18￭ 65 who first described it in 18￭ 46 a researcher found beau s lines in the finger￭ nails of two of six di￭ vers following a deep satur￭ ation dive to a pressure equal to 305 meters of sea water and in six of six di￭ vers following a similar dive to 335 meters they have also been seen in öt￭ zi the ice man
beau s lines are deep gro￭ o￭ ved lines that run from side to side on the finger￭ nail or the to￭ en￭ ail they may look like ind￭ ent￭ ations or ri￭ dges in the nail plate this condition of the nail was named by a french physician joseph honor￭ é simon beau 18￭ 06 – 18￭ 65 who first described it in 18￭ 46 beau s lines are horizontal going across the nail and should not be confused with vertical ri￭ dges going from the bottom cu￭ tic￭ le of the nail out to the finger￭ tip these vertical lines are usually a natural consequence of aging and are harmless beau s lines should also be distinguished from mu￭ e￭ hr￭ c￭ ke s lines of the finger￭ nails while beau s lines are actual ri￭ dges and ind￭ ent￭ ations in the nail plate mu￭ e￭ hr￭ c￭ ke lines are areas of hypo￭ pi￭ gm￭ entation without palpable ri￭ dges they affect the underlying nail bed and not the nail itself beau s lines should also be distinguished from me￭ es lines of the finger￭ nails which are areas of dis￭ color￭ ation in the nail plate there are several causes of beau s lines it is believed that there is a temporary cessation of cell division in the nail matrix this may be caused by an infection or problem in the nail fold where the nail begins to form or it may be caused by an injury to that area some other reasons for these lines include trauma coron￭ ary oc￭ clu￭ sion hypo￭ cal￭ ca￭ emia and skin disease they may be a sign of systemic disease or may also be caused by an illness of the body as well as drugs used in chem￭ otherapy or malnutrition beau s lines can also be seen one to two months after the onset of fever in children with k￭ aw￭ as￭ aki disease human nails grow at a rate which varies with many factors age sex and the finger or toe in question as well as nutrition however typically in healthy populations finger￭ nails grow at about 0 1 mm day and to￭ en￭ ails at about 0 05 mm day with this in mind the date of the stress causing beau s lines and other identifiable marks on nails can be estimated as the nail grows out the ridge visibly moves upwards toward the nail edge when the ridge reaches the nail edge the finger￭ tips can become quite sore due to the mis shap￭ en nail pressing into the flesh deeper than usual exposing the sensitive nail bed the quick at the nail edge a researcher found beau s lines in the finger￭ nails of two of six di￭ vers following a deep satur￭ ation dive to a pressure equal to 305 meters of sea water and in six of six di￭ vers following a similar dive to 335 meters they have also been seen in öt￭ zi the ice man
yellow nail syndrome
yellow nail syndrome also known as primary lymp￭ he￭ dem￭ a associated with yellow nails and ple￭ ural eff￭ usion is a very rare medical syndrome that includes ple￭ ural eff￭ u￭ sions lymp￭ he￭ dem￭ a due to under development of the lymp￭ h￭ atic vessels and yellow dy￭ stro￭ ph￭ ic nails approximately 40 will also have bron￭ chi￭ ec￭ tas￭ is it is also associated with chronic sin￭ u￭ si￭ tis and persistent cou￭ gh￭ ing it usually affects adults
ophi￭ asis
ophi￭ asis is a form of al￭ op￭ ec￭ ia are￭ ata characterized by the loss of hair in the shape of a wave at the circum￭ fer￭ ence of the head it gets its name from op￭ his which is the greek word for snake because of the apparent similarity to a snake shape and the pattern of hair loss the term sis￭ ai￭ ph￭ o is used to characterize the in￭ verse pattern sis￭ ai￭ ph￭ o is the reverse spelling of ophi￭ asis it is also called ophi￭ asis in￭ versus ophi￭ asis has poor prog￭ no￭ s￭ tic significance
al￭ op￭ ec￭ ia m￭ uc￭ in￭ osa
hair loss
hair loss also known as al￭ op￭ ec￭ ia or bal￭ dness refers to a loss of hair from part of the head or body typically at least the head is involved the severity of hair loss can vary from a small area to the entire body typically infl￭ amm￭ ation or scar￭ ring is not present hair loss in some people causes psychological distress
hair loss also known as al￭ op￭ ec￭ ia or bal￭ dness refers to a loss of hair from part of the head or body typically at least the head is involved the severity of hair loss can vary from a small area to the entire body typically infl￭ amm￭ ation or scar￭ ring is not present hair loss in some people causes psychological distress common types include male pattern hair loss female pattern hair loss al￭ op￭ ec￭ ia are￭ ata and a thin￭ ning of hair known as tel￭ o￭ gen efflu￭ vi￭ um the cause of male pattern hair loss is a combination of genetics and male hormones the cause of female pattern hair loss is unclear the cause of al￭ op￭ ec￭ ia are￭ ata is auto￭ immune and the cause of is tel￭ o￭ gen efflu￭ vi￭ um is typically a physically or psychologically stressful event tel￭ o￭ gen efflu￭ vi￭ um is very common following pregnancy less common causes of hair loss without infl￭ amm￭ ation or scar￭ ring include the pulling out of hair certain medications including chem￭ otherapy hiv aids hypo￭ thyro￭ i￭ dis￭ m and malnutrition including iron deficiency causes of hair loss that occurs with scar￭ ring or infl￭ amm￭ ation include fun￭ gal infection lup￭ us er￭ y￭ them￭ ato￭ sus radiation therapy and sar￭ co￭ ido￭ sis diagnosis of hair loss is partly based on the areas affected treatment of pattern hair loss may simply involve accepting the condition intervention that can be tried include the medications min￭ ox￭ idi￭ l or fin￭ aster￭ ide and hair transplant surgery al￭ op￭ ec￭ ia are￭ ata may be treated by ster￭ o￭ id injections in the affected area but these need to be frequently repeated to be aff￭ ective hair loss is a common problem pattern hair loss by age 50 affects about half of males and a quarter of females about 2 of people develop al￭ op￭ ec￭ ia are￭ ata at some point in time
hyper￭ tric￭ ho￭ sis
hyper￭ tric￭ ho￭ sis also called am￭ br￭ as syndrome is an abnormal amount of hair growth over the body extensive cases of hyper￭ tric￭ ho￭ sis have informally been called were￭ wolf syndrome because the appearance is similar to the myth￭ ical were￭ wolf the two distinct types of hyper￭ tric￭ ho￭ sis are generalized hyper￭ tric￭ ho￭ sis which occurs over the entire body and loc￭ alized hyper￭ tric￭ ho￭ sis which is restricted to a certain area hyper￭ tric￭ ho￭ sis can be either con￭ genital present at birth or acquired later in life the excess growth of hair occurs in areas of the skin with the exception of and￭ ro￭ gen dependent hair of the pu￭ bic area face and ax￭ ill￭ ary regions
hyper￭ tric￭ ho￭ sis also called am￭ br￭ as syndrome is an abnormal amount of hair growth over the body extensive cases of hyper￭ tric￭ ho￭ sis have informally been called were￭ wolf syndrome because the appearance is similar to the myth￭ ical were￭ wolf the two distinct types of hyper￭ tric￭ ho￭ sis are generalized hyper￭ tric￭ ho￭ sis which occurs over the entire body and loc￭ alized hyper￭ tric￭ ho￭ sis which is restricted to a certain area hyper￭ tric￭ ho￭ sis can be either con￭ genital present at birth or acquired later in life the excess growth of hair occurs in areas of the skin with the exception of and￭ ro￭ gen dependent hair of the pu￭ bic area face and ax￭ ill￭ ary regions several circus sid￭ es￭ how performers in the 19 th and early 20 th centuries such as julia pastr￭ ana had hyper￭ tric￭ ho￭ sis many of them worked as freaks and were promoted as having distinct human and animal traits
hir￭ su￭ tism
ac￭ ne vul￭ gar￭ is
ac￭ ne vul￭ gar￭ is or simply ac￭ ne is a long term skin disease that occurs when hair fol￭ lic￭ les become clo￭ gged with dead skin cells and oil from the skin ac￭ ne is characterized by areas of black￭ heads white￭ heads p￭ impl￭ es and gre￭ asy skin and may result in scar￭ ring the resulting appearance can lead to anxiety reduced self esteem and in extreme cases depression or thoughts of suicide
chlor￭ ac￭ ne
chlor￭ ac￭ ne is an ac￭ ne like eruption of black￭ heads cy￭ sts and pu￭ st￭ ules associated with over exposure to certain halogenated aromatic compounds such as chlorinated dioxins and di￭ benz￭ of￭ ur￭ ans the le￭ sions are most frequently found on the cheeks behind the ears in the ar￭ mp￭ its and gro￭ in region
ac￭ ne cosme￭ tica
the term ac￭ ne cosme￭ tica refers to ac￭ ne caused by or aggravated by cosmetics the mechanism was presumably a chemically induced plu￭ gging of the pilo￭ se￭ bac￭ eous ori￭ fice this became a significant problem for der￭ mato￭ logists in the 1970 s and 1980 s but with the improved formulations produced by cosmetic chem￭ ists over the past thirty years a diagnosis of ac￭ ne cosme￭ tica has become relatively rare daily der￭ mat￭ ological practice the production of a low grade fol￭ lic￭ u￭ li￭ tis by some components of cosmetic products has led to mis￭ diagnosis on occasion
ro￭ sac￭ ea
ro￭ sac￭ ea is a long term skin condition characterized by facial red￭ ness small and superficial dil￭ ated blood vessels on facial skin pap￭ ules pu￭ st￭ ules and sw￭ elling ro￭ sac￭ ea typically begins as red￭ ness on the central face across the cheeks nose or fore￭ head but can also less commonly affect the neck chest ears and scal￭ p in some cases additional signs such as semi￭ permanent red￭ ness dil￭ ation of superficial blood vessels on the face red dom￭ ed pap￭ ules small bu￭ mps and pu￭ st￭ ules red gr￭ it￭ ty eyes burning and st￭ inging sens￭ ations and in some advanced cases a red lob￭ ulated nose rhin￭ op￭ hy￭ ma may develop
ro￭ sac￭ ea is a long term skin condition characterized by facial red￭ ness small and superficial dil￭ ated blood vessels on facial skin pap￭ ules pu￭ st￭ ules and sw￭ elling ro￭ sac￭ ea typically begins as red￭ ness on the central face across the cheeks nose or fore￭ head but can also less commonly affect the neck chest ears and scal￭ p in some cases additional signs such as semi￭ permanent red￭ ness dil￭ ation of superficial blood vessels on the face red dom￭ ed pap￭ ules small bu￭ mps and pu￭ st￭ ules red gr￭ it￭ ty eyes burning and st￭ inging sens￭ ations and in some advanced cases a red lob￭ ulated nose rhin￭ op￭ hy￭ ma may develop ro￭ sac￭ ea affects all ages and has four sub￭ types three affecting the skin and the fourth affecting the eyes oc￭ ular ro￭ sac￭ ea it primarily affects people of north￭ western european descent and has been nick￭ named the curse of the cel￭ ts by some in britain and ireland although such a connection has been questioned ro￭ sac￭ ea is almost three times more common in women it is commonly found in people between the ages of 30 and 50 and is more common in cauca￭ sians treatment has typically been with do￭ xy￭ cycl￭ ine te￭ trac￭ ycl￭ ine or met￭ ron￭ id￭ azole other treatments with tentative benefit include bri￭ mon￭ id￭ ine cream i￭ ver￭ mec￭ tin cream and iso￭ tre￭ tin￭ o￭ in
peri￭ oral der￭ mati￭ tis
peri￭ oral der￭ mati￭ tis also called peri￭ ori￭ fic￭ al der￭ mati￭ tis is skin disease characterised by multiple small 1 – 2 mm pap￭ ules pu￭ st￭ ules and ves￭ ic￭ les which are loc￭ alized to the peri￭ oral skin around the mouth per￭ inas￭ al or nas￭ ol￭ ab￭ ial fol￭ ds around the no￭ stri￭ ls or peri￭ oc￭ cular area around the eyes it most commonly affects women between the ages of 20 and 45 years but may also affect children men and the elderly it is not un￭ common and has a tendency to recur in individuals who have had it once
ep￭ id￭ er￭ mo￭ id cyst
an ep￭ id￭ er￭ mo￭ id cyst is a benign cyst usually found on the skin the cyst develops out of ec￭ to￭ der￭ mal tissue his￭ to￭ logically it is made of a thin layer of squ￭ am￭ ous epi￭ the￭ lium
ste￭ at￭ oc￭ y￭ stom￭ a multi￭ pl￭ ex
ste￭ at￭ oc￭ y￭ stom￭ a multi￭ pl￭ ex also known as ep￭ id￭ er￭ mal poly￭ c￭ ys￭ tic disease and se￭ bo￭ cy￭ stom￭ at￭ osis is a benign auto￭ som￭ al dominant con￭ genital condition resulting in multiple cy￭ sts on a person s body first described by jam￭ ies￭ on in 18￭ 73 and coined by pr￭ ing￭ le in 18￭ 99 ste￭ at￭ oc￭ y￭ stom￭ a multi￭ pl￭ ex sm is an un￭ common disorder of the pilo￭ se￭ bac￭ eous unit characterized by the development of numerous se￭ bum containing der￭ mal cy￭ sts although ste￭ at￭ oc￭ y￭ stom￭ a multi￭ pl￭ ex has historically been described as an auto￭ som￭ al dominant inherited disorder most presenting cases are spor￭ adic ste￭ at￭ oc￭ y￭ stom￭ a simpl￭ ex is the spor￭ adic solitary tumor counterpart to ste￭ at￭ oc￭ y￭ stom￭ a multi￭ pl￭ ex
mili￭ um der￭ mat￭ ology
a mili￭ um plural mi￭ lia also called a milk spot or an oil seed is a clo￭ g of the ec￭ cr￭ ine duc￭ t the true sweat g￭ land it is a ker￭ atin filled cyst that can appear just under the ep￭ id￭ er￭ mis or on the roof of the mouth mi￭ lia are commonly associated with new￭ born babies but can appear on people of all ages they are usually found around the nose and eyes and sometimes on the gen￭ italia often mistaken by those affected as war￭ ts or other sexually transmitted diseases mi￭ lia can also be confused with stubborn white￭ heads
a mili￭ um plural mi￭ lia also called a milk spot or an oil seed is a clo￭ g of the ec￭ cr￭ ine duc￭ t the true sweat g￭ land it is a ker￭ atin filled cyst that can appear just under the ep￭ id￭ er￭ mis or on the roof of the mouth mi￭ lia are commonly associated with new￭ born babies but can appear on people of all ages they are usually found around the nose and eyes and sometimes on the gen￭ italia often mistaken by those affected as war￭ ts or other sexually transmitted diseases mi￭ lia can also be confused with stubborn white￭ heads in children mi￭ lia often disappear within two to four weeks for adults they can be removed by a physician a der￭ mato￭ logist will have specialist knowledge in this area
pseu￭ do￭ fol￭ lic￭ u￭ li￭ tis bar￭ ba￭ e
hi￭ dr￭ ad￭ eni￭ tis sup￭ pur￭ ativa
hi￭ dr￭ ad￭ eni￭ tis sup￭ pur￭ ativa hs also known as ac￭ ne in￭ versa is a chronic skin disease characterized by clusters of abs￭ c￭ esses or sub￭ cu￭ taneous boil like infections of￭ t￭ enti￭ mes free of actual bacteria that most commonly affects the under￭ arms under the breasts inner thi￭ ghs gro￭ in and but￭ toc￭ ks outbreaks are painful and may persist for years with inter￭ s￭ pers￭ ed periods of infl￭ amm￭ ation often culminating in sudden drainage of p￭ us this process often forms open wounds that will not heal and frequently leads to significant scar￭ ring
fol￭ lic￭ u￭ li￭ tis
mili￭ aria
mili￭ aria ˌ￭ m￭ ɪ￭ l i￭ ˈ￭ ɛ￭ ə￭ r i ə also called sweat rash heat rash or pr￭ ick￭ ly heat is a skin disease marked by small and it￭ chy r￭ ashes mili￭ aria is a common ail￭ ment in hot and hum￭ id conditions such as in the tro￭ p￭ ics and during the summer season although it affects people of all ages it is especially common in children and infants due to their underdeveloped sweat g￭ lands
ross syndrome
body od￭ or
viti￭ li￭ go
viti￭ li￭ go is a long term skin condition characterized by pat￭ ches of the skin losing their pig￭ ment the pat￭ ches of skin affected become white and usually have sharp margins the hair from the skin may also become white inside the mouth and nose may also be involved typically both sides of the body are affected often the pat￭ ches begin on areas of skin that are exposed to the sun it is more noticeable in people with dark skin viti￭ li￭ go may result in psychological stress and those affected may be stigmati￭ zed
hypo￭ pi￭ gm￭ entation
hypo￭ pi￭ gm￭ entation is the loss of skin color it is caused by mel￭ an￭ oc￭ y￭ te or mel￭ an￭ in depletion or a decrease in the amino acid ty￭ ros￭ ine which is used by mel￭ an￭ oc￭ y￭ tes to make mel￭ an￭ in
f￭ reck￭ le
café au la￭ it spot
café au la￭ it spots or café au la￭ it mac￭ ules are flat pi￭ gm￭ ented birth￭ marks the name café au la￭ it is french for coffee with milk and refers to their light brown color they are also called gir￭ aff￭ e spots or coast of ma￭ ine spots they are caused by a collection of pig￭ ment producing mel￭ an￭ oc￭ y￭ tes in the ep￭ id￭ er￭ mis of the skin these spots are typically permanent and may grow or increase in number over time café au la￭ it spots are often harmless but may be associated with syndro￭ mes such as neuro￭ fi￭ bro￭ mat￭ osis type 1 and mc￭ c￭ une al￭ bright syndrome
l￭ enti￭ go
a l￭ enti￭ go l￭ ɛ￭ n￭ ˈ￭ ta￭ ɪ￭ ɡ￭ o￭ ʊ plural l￭ enti￭ gin￭ es l￭ ɛ￭ n￭ ˈ￭ t￭ ɪ￭ d￭ ʒ￭ ᵻ￭ n￭ iz is a small pi￭ gm￭ ented spot on the skin with a clearly defined edge surrounded by normal appearing skin it is a harmless benign hyper￭ pl￭ asia of mel￭ an￭ oc￭ y￭ tes which is linear in its spread this means the hyper￭ pl￭ asia of mel￭ an￭ oc￭ y￭ tes is restricted to the cell layer directly above the basement memb￭ rane of the ep￭ id￭ er￭ mis where mel￭ an￭ oc￭ y￭ tes normally reside this is in contrast to the ne￭ sts of multi layer mel￭ an￭ oc￭ y￭ tes found in mol￭ es mel￭ an￭ oc￭ y￭ tic ne￭ vi because of this characteristic feature the ad￭ jec￭ tive l￭ enti￭ gin￭ ous is used to describe other skin le￭ sions that similarly prolifer￭ ate lin￭ early within the bas￭ al cell layer
liver spot
liver spots also known as age spot solar l￭ enti￭ go l￭ enti￭ go sen￭ il￭ is old age spot sen￭ ile f￭ reck￭ le are bl￭ em￭ ishes on the skin associated with aging and exposure to ultra￭ violet radiation from the sun they range in color from light brown to red or black and are located in areas most often exposed to the sun particularly the hands face shoulders arms and fore￭ head and the scal￭ p if bald
liver spots also known as age spot solar l￭ enti￭ go l￭ enti￭ go sen￭ il￭ is old age spot sen￭ ile f￭ reck￭ le are bl￭ em￭ ishes on the skin associated with aging and exposure to ultra￭ violet radiation from the sun they range in color from light brown to red or black and are located in areas most often exposed to the sun particularly the hands face shoulders arms and fore￭ head and the scal￭ p if bald the spots derive their name from the fact that they were once incorrectly believed to be caused by liver problems but they are physi￭ o￭ logically unrelated to the liver save for a similar color from the age of 40 onward the skin is less able to regener￭ ate from sun exposure and liver spots are very common in this age group particularly in those who spend time in the sun in the overwhelming majority of cases liver spots pose no threat and require no treatment though they occasionally have been known to obscure the detection of skin cancer however despite being a benign condition liver spots are sometimes considered un￭ sigh￭ tly and some people choose to have them removed this can be done by electro￭ surgery laser treatment cry￭ otherapy or the use of tre￭ tin￭ o￭ in or alpha hydro￭ xy acids
dy￭ schro￭ mia
se￭ bor￭ rhe￭ ic ker￭ at￭ osis
a se￭ bor￭ rhe￭ ic ker￭ at￭ osis also known as se￭ bor￭ rhe￭ ic ver￭ r￭ uca or a sen￭ ile wart is a benign skin tumor that originates from ker￭ at￭ in￭ oc￭ y￭ tes like liver spots se￭ bor￭ rhe￭ ic ker￭ ato￭ ses are seen more often as people age
ac￭ anth￭ osis ni￭ gr￭ ic￭ ans
call￭ us
a call￭ us or cal￭ los￭ ity is a tough￭ ened area of skin which has become relatively thick and hard in response to repeated friction pressure or other irritation rub￭ bing that is too frequent or forceful will cause bl￭ is￭ ters rather than allow call￭ uses to form since repeated contact is required call￭ uses are most often found on feet because of frequent walking call￭ uses are generally not harmful but may sometimes lead to other problems such as skin ul￭ cer￭ ation or infection
par￭ ane￭ op￭ l￭ astic acro￭ ker￭ at￭ osis
par￭ ane￭ op￭ l￭ astic acro￭ ker￭ at￭ osis baz￭ ex syndrome also known as acro￭ ker￭ at￭ osis par￭ ane￭ op￭ las￭ tica of baz￭ ex and acro￭ ker￭ at￭ osis ne￭ op￭ las￭ tica is a cu￭ taneous condition characterized by ps￭ ori￭ asi￭ form changes of hands feet ears and nose with involvement of the nails and peri￭ un￭ gu￭ al tissues being characteristic and in￭ distingu￭ ishable from ps￭ ori￭ atic nails the condition is associated with carcin￭ om￭ as of the upper aero￭ dig￭ estive tract this condition should not be confused with the other unrelated disease called baz￭ ex syndrome otherwise referred to as baz￭ ex du￭ pre chris￭ tol syndrome
pal￭ mop￭ lan￭ tar ker￭ ato￭ der￭ ma
pal￭ mop￭ lan￭ tar ker￭ ato￭ der￭ mas are a heterogeneous group of disorders characterized by abnormal thick￭ ening of the pal￭ ms and sol￭ es auto￭ som￭ al rec￭ essive and dominant x linked and acquired forms have all been described
hyper￭ ker￭ at￭ osis
hyper￭ ker￭ at￭ osis is thick￭ ening of the strat￭ um cor￭ neu￭ m the outermost layer of the ep￭ id￭ er￭ mis often associated with the presence of an abnormal quantity of ker￭ atin and also usually accompanied by an increase in the gran￭ ular layer as the cor￭ neu￭ m layer normally varies greatly in thickness in different sites some experience is needed to assess minor degrees of hyper￭ ker￭ at￭ osis it can be caused by vitamin a deficiency or chronic exposure to arsenic hyper￭ ker￭ at￭ osis can also be caused by b raf inhi￭ bit￭ or drugs such as vem￭ ur￭ af￭ eni￭ b and d￭ ab￭ raf￭ eni￭ b
py￭ o￭ der￭ ma gan￭ gre￭ no￭ sum
pressure ul￭ cer
pressure ul￭ cers also known as pressure so￭ res bed￭ so￭ res and dec￭ u￭ bit￭ us ul￭ cers are loc￭ alized injuries to the skin and or underlying tissue that usually occur over a bon￭ y prominence as a result of pressure or pressure in combination with she￭ ar and or friction the most common sites are the skin over￭ lying the sac￭ rum coc￭ cy￭ x heels or the hips but other sites such as the el￭ bows knees an￭ kles back of shoulders or the back of the cran￭ ium can be affected
lichen s￭ cl￭ ero￭ sus
lichen s￭ cl￭ ero￭ sus ls and also known as lichen s￭ cl￭ ero￭ sus et atro￭ ph￭ ic￭ us l￭ se￭ ta also termed incorrectly lichen sclerosis et atro￭ ph￭ ic￭ us is a disease of unknown cause that results in white pat￭ ches on the skin which may cause scar￭ ring on and around genital or sometimes other skin there is a b￭ im￭ od￭ al age distribution in the incidence of ls it occurs in females with an average age of diagnosis of 7 6 years in girls and 60 years old in women the average age of diagnosis in boys is 9 – 11 years old
lichen s￭ cl￭ ero￭ sus ls and also known as lichen s￭ cl￭ ero￭ sus et atro￭ ph￭ ic￭ us l￭ se￭ ta also termed incorrectly lichen sclerosis et atro￭ ph￭ ic￭ us is a disease of unknown cause that results in white pat￭ ches on the skin which may cause scar￭ ring on and around genital or sometimes other skin there is a b￭ im￭ od￭ al age distribution in the incidence of ls it occurs in females with an average age of diagnosis of 7 6 years in girls and 60 years old in women the average age of diagnosis in boys is 9 – 11 years old several risk factors have been proposed including auto￭ immune diseases infections and genetic pre￭ disposition there is evidence that ls can be associated with thyro￭ id disease
acro￭ der￭ mati￭ tis ch￭ ron￭ ica atro￭ ph￭ ic￭ ans
acro￭ der￭ mati￭ tis ch￭ ron￭ ica atro￭ ph￭ ic￭ ans aca also known as her￭ x￭ he￭ imer disease and primary diffuse atro￭ phy is a skin rash indicative of the third or late stage of european ly￭ me bor￭ reli￭ osis aca is a der￭ mat￭ ological condition that takes a chronically progressive course and finally leads to a widespread atro￭ phy of the skin involvement of the peripheral nervous system is often observed specifically pol￭ yn￭ euro￭ pa￭ thy
scar
scars are areas of fi￭ bro￭ us tissue fi￭ bro￭ sis that replace normal skin after injury a scar results from the biological process of wound repair in the skin and other tissues of the body thus scar￭ ring is a natural part of the healing process with the exception of very minor le￭ sions every wound e g after accident disease or surgery results in some degree of scar￭ ring an exception to this are animals with complete regeneration which reg￭ row tissue without scar formation
scars are areas of fi￭ bro￭ us tissue fi￭ bro￭ sis that replace normal skin after injury a scar results from the biological process of wound repair in the skin and other tissues of the body thus scar￭ ring is a natural part of the healing process with the exception of very minor le￭ sions every wound e g after accident disease or surgery results in some degree of scar￭ ring an exception to this are animals with complete regeneration which reg￭ row tissue without scar formation scar tissue is composed of the same protein coll￭ agen as the tissue that it replaces but the fiber composition of the protein is different instead of a random bas￭ ket￭ we￭ ave formation of the coll￭ agen fi￭ bers found in normal tissue in fi￭ bro￭ sis the coll￭ agen cross links and forms a pronounced alignment in a single direction this coll￭ agen scar tissue alignment is usually of inferior functional quality to the normal coll￭ agen random￭ ised alignment for example scars in the skin are less resistant to ultra￭ violet radiation and sweat g￭ lands and hair fol￭ lic￭ les do not grow back within scar tissues a my￭ o￭ cardi￭ al inf￭ arc￭ tion commonly known as a heart attack causes scar formation in the heart muscle which leads to loss of muscular power and possibly heart failure however there are some tissues e g bone that can heal without any structural or functional deterioration
stretch marks
stri￭ ae is also a general term referring to thin narrow gro￭ o￭ ves or channels or a thin line or band especially if several of them are parallel or close together stretch marks also known as stri￭ ae are a form of scar￭ ring on the skin with an off color h￭ ue over time they may diminish but will not disappear completely stretch marks formed during pregnancy usually during the last trim￭ ester and usually on the belly but also commonly occurring on the breasts thi￭ ghs hips lower back and but￭ toc￭ ks are known as stri￭ ae gr￭ avi￭ dar￭ um
stri￭ ae is also a general term referring to thin narrow gro￭ o￭ ves or channels or a thin line or band especially if several of them are parallel or close together stretch marks also known as stri￭ ae are a form of scar￭ ring on the skin with an off color h￭ ue over time they may diminish but will not disappear completely stretch marks formed during pregnancy usually during the last trim￭ ester and usually on the belly but also commonly occurring on the breasts thi￭ ghs hips lower back and but￭ toc￭ ks are known as stri￭ ae gr￭ avi￭ dar￭ um stretch marks are caused by tearing of the der￭ mis this is often from the rapid stretching of the skin associated with rapid growth or rapid weight changes stretch marks may also be influenced by hormonal changes associated with pu￭ ber￭ ty pregnancy body￭ building or hormone replacement therapy there is no evidence that cre￭ ams used during pregnancy prevent stretch marks once they have formed there is no clearly useful treatment though various methods have been tried
kel￭ o￭ id
kel￭ o￭ id also kel￭ o￭ idal scar is the formation of a type of scar which depending on its maturity is composed mainly of either type iii early or type i late coll￭ agen it is a result of an over￭ growth of gran￭ ulation tissue coll￭ agen type 3 at the site of a healed skin injury which is then slowly replaced by coll￭ agen type 1 kel￭ oids are firm rub￭ bery le￭ sions or shiny fi￭ bro￭ us no￭ d￭ ules and can vary from pink to the colour of the patient s flesh or red to dark brown in color a kel￭ o￭ id scar is benign and not contagious but sometimes accompanied by severe it￭ chin￭ ess pain and changes in tex￭ ture in severe cases it can affect movement of skin kel￭ o￭ id scars are seen 15 times more frequently in people of african descent than in people of european descent
gran￭ ul￭ oma
gran￭ ul￭ oma is an infl￭ amm￭ ation found in many diseases it is a collection of immune cells known as his￭ ti￭ oc￭ y￭ tes macro￭ p￭ ha￭ ges gran￭ ul￭ om￭ as form when the immune system attempts to wall off substances it percei￭ ves as foreign but is unable to eliminate such substances include infectious organisms including bacteria and fun￭ gi as well as other materials such as ker￭ atin and su￭ ture fragments
gran￭ ul￭ oma annul￭ are
necro￭ bio￭ sis li￭ po￭ i￭ dic￭ a
necro￭ bio￭ sis li￭ po￭ i￭ dic￭ a is a necro￭ tising skin condition that usually occurs in patients with diabetes mell￭ it￭ us but can also be associated with r￭ heu￭ mato￭ id ar￭ thri￭ tis in the former case it may be called necro￭ bio￭ sis li￭ po￭ i￭ dic￭ a diabe￭ tic￭ orum nld nld occurs in approximately 0 3 of the diabe￭ tic population with the majority of sufferers being women approximately 3 1 females to males affected
necro￭ bio￭ sis li￭ po￭ i￭ dic￭ a is a necro￭ tising skin condition that usually occurs in patients with diabetes mell￭ it￭ us but can also be associated with r￭ heu￭ mato￭ id ar￭ thri￭ tis in the former case it may be called necro￭ bio￭ sis li￭ po￭ i￭ dic￭ a diabe￭ tic￭ orum nld nld occurs in approximately 0 3 of the diabe￭ tic population with the majority of sufferers being women approximately 3 1 females to males affected the severity or control of diabetes in an individual does not affect who will or will not get nld better maintenance of diabetes after being diagnosed with nld will not change how quickly the nld will resolve
gran￭ ul￭ oma fac￭ i￭ ale
gran￭ ul￭ oma fac￭ i￭ ale g￭ f is an un￭ common benign chronic skin disease of unknown origin characterized by single or multiple cu￭ taneous no￭ d￭ ules usually occurring over the face occasionally extr￭ af￭ ac￭ ial involvement is noted most often on sun exposed areas
foreign body gran￭ ul￭ oma
the foreign body gran￭ ul￭ oma is a response of biological tissue to any foreign material in the tissue tissue en￭ cap￭ s￭ ulation of an impl￭ ant is part of this an infection around a spl￭ inter is part of this too the presence of the impl￭ ant changes the healing response and this is called the foreign body reaction f￭ br f￭ br consists of protein ad￭ sor￭ ption macro￭ p￭ ha￭ ges multin￭ uc￭ le￭ ated foreign body giant cells macro￭ p￭ ha￭ ge fusion fi￭ bro￭ bl￭ asts and an￭ gi￭ o￭ genesis it can be caused by ber￭ yl￭ lium
dis￭ co￭ id lup￭ us er￭ y￭ them￭ ato￭ sus
dis￭ co￭ id lup￭ us er￭ y￭ them￭ ato￭ sus dle is a chronic skin condition of so￭ res with infl￭ amm￭ ation and scar￭ ring favoring the face ears and scal￭ p and at times on other body areas these le￭ sions develop as a red infl￭ amed patch with a scaling and cru￭ sty appearance the center areas may appear lighter in color with a rim darker than the normal skin dis￭ co￭ id lup￭ us er￭ y￭ them￭ ato￭ sus can be divided into loc￭ alized generalized and childhood dis￭ co￭ id lup￭ us er￭ y￭ them￭ ato￭ sus
s￭ cl￭ ero￭ der￭ ma
s￭ cl￭ ero￭ der￭ ma also known as systemic sclerosis is a long term auto￭ immune disease that results in hard￭ ening of the skin in the more severe form it also affects internal organs the cause is unknown the underlying mechanism involves the body s immune system attacking healthy tissues there is a strong associations with certain mutations in h￭ la genes environmental factors have also been implicated
s￭ cl￭ ero￭ der￭ ma also known as systemic sclerosis is a long term auto￭ immune disease that results in hard￭ ening of the skin in the more severe form it also affects internal organs the cause is unknown the underlying mechanism involves the body s immune system attacking healthy tissues there is a strong associations with certain mutations in h￭ la genes environmental factors have also been implicated limited s￭ cl￭ ero￭ der￭ ma involves mainly the skin of the hands arms and face it was previously called c￭ rest syndrome an acron￭ ym of the following common manifestations cal￭ cin￭ osis the de￭ position of calcium no￭ d￭ ules in the skin ray￭ n￭ aud s phenomenon exaggerated vas￭ o￭ con￭ stric￭ tion in the hands with fingers undergoing white blue red color transitions in the cold es￭ op￭ ha￭ ge￭ al dysfunction leading to difficulty sw￭ allowing s￭ cler￭ od￭ ac￭ ty￭ ly skin thick￭ ening on the fingers and tel￭ an￭ gi￭ ec￭ ta￭ si￭ as dil￭ ated cap￭ il￭ lar￭ ies on the face hands and mu￭ co￭ us memb￭ ran￭ es diffuse s￭ cl￭ ero￭ der￭ ma is rapidly progressing and affects a large area of the skin and one or more internal organs frequently the kidneys es￭ op￭ ha￭ gus heart and or lungs this form of s￭ cl￭ ero￭ der￭ ma can be quite disab￭ ling there are no treatments for s￭ cl￭ ero￭ der￭ ma itself but individual organ system complications are treated outcomes are generally good for limited s￭ cl￭ ero￭ der￭ ma of the skin when their are no lung complications they are worse for those with the diffuse skin disease particularly in older age and males death occurs most often from lung heart and kidney complications in diffuse cu￭ taneous disease five year survival is 70 and 10 year survival is 55 s￭ cl￭ ero￭ der￭ ma was first described in 17￭ 53 by carlo cur￭ zio of o￭ spe￭ dale degli incur￭ abil￭ i naples
live￭ do￭ id vas￭ cu￭ li￭ tis
live￭ do￭ id vas￭ cul￭ opathy also known as live￭ do￭ id vas￭ cu￭ li￭ tis live￭ do re￭ ticul￭ aris with summer winter ul￭ cer￭ ation and seg￭ mental hy￭ al￭ ini￭ zing vas￭ cu￭ li￭ tis is a chronic cu￭ taneous disease seen predominantly in young to middle aged women one synon￭ ym used to describe its features is painful pur￭ pur￭ ic ul￭ cers with retic￭ ular pattern of the lower extre￭ mi￭ ties purple it can be divided into a primary or idi￭ opathic form and a secondary form which has been associated with a number of diseases including chronic ven￭ ous hyper￭ tension and vari￭ co￭ sities
mal￭ um per￭ for￭ ans
mal￭ um per￭ for￭ ans also known as neuro￭ troph￭ ic ul￭ cer and troph￭ ic ul￭ cer is a long lasting usually pain￭ less ul￭ cer that penetr￭ ates deep into or through the skin usually on the sole of the foot in which case it may be called mal￭ um per￭ for￭ ans ped￭ is it is often a complic￭ ation in diabetes mell￭ it￭ us and other conditions affecting the nerves
py￭ ogenic gran￭ ul￭ oma
exc￭ ori￭ ation disorder
exc￭ ori￭ ation disorder also known as der￭ mati￭ l￭ lo￭ mania skin picking disorder neuro￭ tic exc￭ ori￭ ation ac￭ ne exc￭ ori￭ ee patho￭ logic skin picking p￭ sp compul￭ sive skin picking c￭ sp or psycho￭ genic exc￭ ori￭ ation is a mental disorder characterized by the repeated urge to pick at one s own skin often to the extent that damage is caused
exc￭ ori￭ ation disorder also known as der￭ mati￭ l￭ lo￭ mania skin picking disorder neuro￭ tic exc￭ ori￭ ation ac￭ ne exc￭ ori￭ ee patho￭ logic skin picking p￭ sp compul￭ sive skin picking c￭ sp or psycho￭ genic exc￭ ori￭ ation is a mental disorder characterized by the repeated urge to pick at one s own skin often to the extent that damage is caused research has suggested that the urge to pick is similar to a body focused repeti￭ tive behavior but others have argued that for some the condition is more akin to a substance abuse disorder the two main strategies for treating this condition are pharmaco￭ logical and behavioral intervention
neuro￭ tic exc￭ ori￭ ations
neuro￭ tic exc￭ ori￭ ations is a condition in which patients produce skin le￭ sions through repeti￭ tive compul￭ sive exc￭ ori￭ ation of their skin
fe￭ bri￭ le neu￭ tro￭ phil￭ ic der￭ mat￭ osis
sweet s syndrome ss or acute fe￭ bri￭ le neu￭ tro￭ phil￭ ic der￭ mat￭ osis is a skin disease characterized by the sudden onset of fever an elevated white blood cell count and tender red well demarc￭ ated pap￭ ules and pl￭ aqu￭ es that show dense infiltr￭ ates by neu￭ tro￭ phil gran￭ ul￭ oc￭ y￭ tes on his￭ to￭ logic examination the syndrome was first described in 1964 by robert douglas sweet it was also known as gom￭ m button disease in honour of the first two patients sweet diagnosed with the condition
cu￭ taneous lymp￭ ho￭ id hyper￭ pl￭ asia
cu￭ taneous lymp￭ ho￭ id hyper￭ pl￭ asia also known as bor￭ reli￭ al lymp￭ ho￭ cy￭ tom￭ a lymp￭ had￭ en￭ osis ben￭ ign￭ a cu￭ tis lymp￭ ho￭ cy￭ tom￭ a cu￭ tis pseu￭ d￭ olymp￭ homa pseu￭ d￭ olymp￭ homa of spi￭ eg￭ ler and f￭ end￭ t sar￭ co￭ ido￭ sis of spi￭ eg￭ ler and f￭ end￭ t spi￭ eg￭ ler – f￭ end￭ t lymp￭ ho￭ id hyper￭ pl￭ asia and spi￭ eg￭ ler – f￭ end￭ t sar￭ co￭ id refers to a groups of benign cu￭ taneous disorders characterized by collections of lymp￭ ho￭ cy￭ tes macro￭ p￭ ha￭ ges and d￭ end￭ ri￭ tic cells in the skin conditions included in this groups are
cu￭ taneous lymp￭ ho￭ id hyper￭ pl￭ asia also known as bor￭ reli￭ al lymp￭ ho￭ cy￭ tom￭ a lymp￭ had￭ en￭ osis ben￭ ign￭ a cu￭ tis lymp￭ ho￭ cy￭ tom￭ a cu￭ tis pseu￭ d￭ olymp￭ homa pseu￭ d￭ olymp￭ homa of spi￭ eg￭ ler and f￭ end￭ t sar￭ co￭ ido￭ sis of spi￭ eg￭ ler and f￭ end￭ t spi￭ eg￭ ler – f￭ end￭ t lymp￭ ho￭ id hyper￭ pl￭ asia and spi￭ eg￭ ler – f￭ end￭ t sar￭ co￭ id refers to a groups of benign cu￭ taneous disorders characterized by collections of lymp￭ ho￭ cy￭ tes macro￭ p￭ ha￭ ges and d￭ end￭ ri￭ tic cells in the skin conditions included in this groups are cu￭ taneous lymp￭ ho￭ id hyper￭ pl￭ asia with no￭ d￭ ular pattern a condition of the skin characterized by a solitary or loc￭ alized cluster of as￭ ymp￭ tomatic er￭ y￭ them￭ at￭ ous to viol￭ ac￭ eous pap￭ ules or no￭ d￭ ules cu￭ taneous lymp￭ ho￭ id hyper￭ pl￭ asia with band￭ like and peri￭ vascular patterns a condition of the skin characterized by skin le￭ sions that clin￭ ically resemble my￭ co￭ sis fun￭ go￭ ides jess￭ ner lymp￭ ho￭ cy￭ tic infiltr￭ ate of the skin also known as benign lymp￭ ho￭ cy￭ tic infiltr￭ ation of the skin jess￭ ner lymp￭ ho￭ cy￭ tic infiltr￭ ation of the skin jess￭ ner – kan￭ of lymp￭ ho￭ cy￭ tic infiltr￭ ation of the skin and lymp￭ ho￭ cy￭ tic infiltr￭ ate of jess￭ ner is a cu￭ taneous condition characterized by a persistent pap￭ ular and pla￭ que like skin eruption which can occur on the neck face and back and may re occur this is an un￭ common skin disease and is a benign collection of lymp￭ h cells its cause is not known and can be hereditary it is named for max jess￭ ner it is thought to be equivalent to lup￭ us er￭ y￭ them￭ ato￭ sus tum￭ i￭ dus
hereditary mu￭ co￭ epi￭ the￭ li￭ al dys￭ pl￭ asia
hereditary mu￭ co￭ epi￭ the￭ li￭ al dys￭ pl￭ asia h￭ md or simply mu￭ co￭ epi￭ the￭ li￭ al dys￭ pl￭ asia is a rare auto￭ som￭ al dominant multi￭ epi￭ the￭ li￭ al disorder causing systemic mal￭ development of the epi￭ the￭ lia and mu￭ co￭ us memb￭ ran￭ es that line the surface of tissues and structures throughout the body particularly affecting systems affiliated with mu￭ co￭ sa which includes the respiratory dig￭ estive ur￭ inary reproductive and immune systems the disorder is attributed to improper formation of des￭ mo￭ som￭ es and gap junc￭ tions which prevents proper cor￭ ni￭ fication of the epi￭ the￭ li￭ al layer of the skin
ar￭ thro￭ pa￭ thy
ar￭ thri￭ tis
ar￭ thri￭ tis is a term often used to mean any disorder that affects joints symptoms generally include joint pain and sti￭ ff￭ ness other symptoms may include red￭ ness warmth sw￭ elling and decreased range of motion of the affected joints in some types other organs are also affected onset can be gradual or sudden treatment may include resting the joint and altern￭ ating between applying ice and heat weight loss and exercise may also be useful pain medications such as i￭ bu￭ prof￭ en and acet￭ amin￭ oph￭ en par￭ acet￭ am￭ ol may be used in some a joint replacement may be useful
ar￭ thri￭ tis is a term often used to mean any disorder that affects joints symptoms generally include joint pain and sti￭ ff￭ ness other symptoms may include red￭ ness warmth sw￭ elling and decreased range of motion of the affected joints in some types other organs are also affected onset can be gradual or sudden there are over 100 types of ar￭ thri￭ tis the most common forms are o￭ ste￭ o￭ ar￭ thri￭ tis degenerative joint disease and r￭ heu￭ mato￭ id ar￭ thri￭ tis o￭ ste￭ o￭ ar￭ thri￭ tis usually occurs with age and affects the fingers knees and hips r￭ heu￭ mato￭ id ar￭ thri￭ tis is an auto￭ immune disorder that often affects the hands and feet other types include g￭ out lup￭ us fi￭ bro￭ my￭ al￭ gia and se￭ ptic ar￭ thri￭ tis they are all types of r￭ heu￭ matic disease treatment may include resting the joint and altern￭ ating between applying ice and heat weight loss and exercise may also be useful pain medications such as i￭ bu￭ prof￭ en and acet￭ amin￭ oph￭ en par￭ acet￭ am￭ ol may be used in some a joint replacement may be useful o￭ ste￭ o￭ ar￭ thri￭ tis affects more than 3 8 of people while r￭ heu￭ mato￭ id ar￭ thri￭ tis affects about 0 24 of people g￭ out affects about 1 to 2 of the western population at some point in their lives in australia and the united states more than 20 of people have a type of ar￭ thri￭ tis overall the disease becomes more common with age ar￭ thri￭ tis is a common reason that people miss work and can result in a decreased quality of life the term is from greek arth￭ ro meaning joint and i￭ tis meaning infl￭ amm￭ ation
reactive ar￭ thri￭ tis
reactive ar￭ thri￭ tis is classified as an auto￭ immune condition that develops in response to an infection in another part of the body cross re￭ activity coming into contact with bacteria and developing an infection can trigger the disease by the time the patient presents with symptoms often the trigger infection has been cured or is in remission in chronic cases thus making determination of the initial cause difficult
r￭ heu￭ mato￭ id ar￭ thri￭ tis
r￭ heu￭ mato￭ id ar￭ thri￭ tis ra is a long lasting auto￭ immune disorder that primarily affects joints it typically results in warm sw￭ oll￭ en and painful joints pain and sti￭ ff￭ ness often worsen following rest most commonly the wrist and hands are involved with the same joints typically involved on both sides of the body the disease may also affect other parts of the body this may result in a low red blood cell count infl￭ amm￭ ation around the lungs and infl￭ amm￭ ation around the heart fever and low energy may also be present often symptoms come on gradually over weeks to months
r￭ heu￭ mato￭ id ar￭ thri￭ tis ra is a long lasting auto￭ immune disorder that primarily affects joints it typically results in warm sw￭ oll￭ en and painful joints pain and sti￭ ff￭ ness often worsen following rest most commonly the wrist and hands are involved with the same joints typically involved on both sides of the body the disease may also affect other parts of the body this may result in a low red blood cell count infl￭ amm￭ ation around the lungs and infl￭ amm￭ ation around the heart fever and low energy may also be present often symptoms come on gradually over weeks to months while the cause of r￭ heu￭ mato￭ id ar￭ thri￭ tis is not clear it is believed to involve a combination of genetic and environmental factors the underlying mechanism involves the body s immune system attacking the joints this results in infl￭ amm￭ ation and thick￭ ening of the joint cap￭ su￭ le it also affects the underlying bone and car￭ til￭ age the diagnosis is made mostly on the basis of a person s signs and symptoms x rays and laboratory testing may support a diagnosis or exclude other diseases with similar symptoms other diseases that may present similarly include systemic lup￭ us er￭ y￭ them￭ ato￭ sus ps￭ ori￭ atic ar￭ thri￭ tis and fi￭ bro￭ my￭ al￭ gia among others the goal of treatment is to reduce pain decrease infl￭ amm￭ ation and improve a person s overall functioning this may be helped by balancing rest and exercise the use of spl￭ in￭ ts and brac￭ es or the use of ass￭ is￭ tive devices pain medications ster￭ oids and n￭ s￭ aids are frequently used to help with symptoms a group of medications called disease modifying anti￭ r￭ heu￭ matic drugs d￭ mar￭ ds may be used to try to slow the progression of disease they include the medications hydroxy￭ chloro￭ qu￭ ine and meth￭ o￭ tre￭ x￭ ate biological d￭ mar￭ ds may be used when disease does not respond to other treatments however they may have a greater rate of adverse effects surgery to repair replace or fuse joints may help in certain situations most alternative medicine treatments are not supported by evidence ra affects between 0 5 and 1 of adults in the developed world with between 5 and 50 per 100 000 people newly developing the condition each year onset is most frequent during middle age and women are affected 2 5 times as frequently as men in 2013 it resulted in 38 000 deaths up from 28 000 deaths in 1990 the first recognized description of ra was made in 1800 by dr aug￭ us￭ tin jacob lan￭ dr￭ é beau￭ va￭ is 17￭ 72 – 18￭ 40 of paris the term r￭ heu￭ mato￭ id ar￭ thri￭ tis is based on the greek for wat￭ ery and infl￭ amed joints
fel￭ ty s syndrome
fel￭ ty s syndrome also called fel￭ ty syndrome is characterized by the combination of r￭ heu￭ mato￭ id ar￭ thri￭ tis splen￭ om￭ eg￭ al￭ y and neu￭ tro￭ pen￭ ia the condition is more common in those aged 50 – 70 years and is more prevalent in females than males and more in cauca￭ sians than those of african descent it is a de￭ forming but inactive disease and sero￭ positive for r￭ f
r￭ heu￭ mato￭ id no￭ dule
a r￭ heu￭ mato￭ id no￭ dule is a local sw￭ elling or tissue lump usually rather firm to touch like an un￭ ripe fruit which occurs almost exclusively in association with r￭ heu￭ mato￭ id ar￭ thri￭ tis very rarely r￭ heu￭ mato￭ id no￭ d￭ ules occur as r￭ heu￭ mato￭ id no￭ dul￭ osis in the absence of ar￭ thri￭ tis they are usually sub￭ cu￭ taneous especially over bon￭ y promin￭ ences such as the ol￭ ec￭ ran￭ on tip of the el￭ bow or the inter￭ p￭ hal￭ ange￭ al joints finger knuc￭ kles less commonly they occur in the lining of the lung and other internal organs the occurrence of no￭ d￭ ules in the lung of min￭ ers exposed to silic￭ a dust was known as cap￭ lan s syndrome no￭ d￭ ules vary in size from that of a l￭ enti￭ l or pea to that of a mandar￭ in orange quite often they are associated with sy￭ no￭ vi￭ al pockets or bur￭ sa￭ e about 5 of r￭ heu￭ mato￭ id ar￭ thri￭ tis patients have su
juvenile idi￭ opathic ar￭ thri￭ tis
juvenile idi￭ opathic ar￭ thri￭ tis j￭ ia also known as juvenile r￭ heu￭ mato￭ id ar￭ thri￭ tis j￭ ra is the most common form of ar￭ thri￭ tis in children and adolescents juvenile in this context refers to an onset before age 16 idi￭ opathic refers to a condition with no defined cause and ar￭ thri￭ tis is the infl￭ amm￭ ation of the sy￭ no￭ vi￭ um of a joint j￭ ia affects approximately 1 in 1 000 children in any given year with about 1 in 10 000 having a more severe form
juvenile idi￭ opathic ar￭ thri￭ tis j￭ ia also known as juvenile r￭ heu￭ mato￭ id ar￭ thri￭ tis j￭ ra is the most common form of ar￭ thri￭ tis in children and adolescents juvenile in this context refers to an onset before age 16 idi￭ opathic refers to a condition with no defined cause and ar￭ thri￭ tis is the infl￭ amm￭ ation of the sy￭ no￭ vi￭ um of a joint j￭ ia is an auto￭ immune non infec￭ tive infl￭ am￭ matory joint disease of more than 6 weeks duration in children less than 16 years of age the disease commonly occurs in children from the ages of 7 to 12 but it may occur in adolescents as old as 15 years of age as well as in infants it is a sub￭ set of ar￭ thri￭ tis seen in childhood which may be transi￭ ent and self limited or chronic it differs significantly from ar￭ thri￭ tis commonly seen in adults o￭ ste￭ o￭ ar￭ thri￭ tis r￭ heu￭ mato￭ id ar￭ thri￭ tis and other types of ar￭ thri￭ tis that can present in childhood which are chronic conditions e g ps￭ ori￭ atic ar￭ thri￭ tis and an￭ ky￭ losing spon￭ dy￭ li￭ tis ae￭ ti￭ opath￭ ology is similar to r￭ heu￭ mato￭ id ar￭ thri￭ tis but with less marked car￭ til￭ age erosion and joint instability and absent r￭ heu￭ mato￭ id factor j￭ ia affects approximately 1 in 1 000 children in any given year with about 1 in 10 000 having a more severe form
an￭ ky￭ losing spon￭ dy￭ li￭ tis
an￭ ky￭ losing spon￭ dy￭ li￭ tis as is a type of ar￭ thri￭ tis in which there is long term infl￭ amm￭ ation of the joints of the sp￭ ine typically where the sp￭ ine joins the pel￭ vis is also affected occasionally other joints such as the shoulders or hips are involved eye and bo￭ wel problems may also occur often the symptom of back pain comes and goes sti￭ ff￭ ness of the affected joints generally wor￭ sens over time
an￭ ky￭ losing spon￭ dy￭ li￭ tis as is a type of ar￭ thri￭ tis in which there is long term infl￭ amm￭ ation of the joints of the sp￭ ine typically where the sp￭ ine joins the pel￭ vis is also affected occasionally other joints such as the shoulders or hips are involved eye and bo￭ wel problems may also occur often the symptom of back pain comes and goes sti￭ ff￭ ness of the affected joints generally wor￭ sens over time the cause of an￭ ky￭ losing spon￭ dy￭ li￭ tis is unknown however it is believed to involve a combination of genetic and environmental factors the underlying mechanism is believed to be auto￭ immune or auto￭ infl￭ am￭ matory diagnosis is typically based on the symptoms with support from medical imaging and blood tests it is a type of ser￭ on￭ eg￭ ative spon￭ dy￭ lo￭ ar￭ thro￭ path￭ ies meaning that the person tests negative for the anti￭ body called r￭ heu￭ mato￭ id factor there is no cure for an￭ ky￭ losing spon￭ dy￭ li￭ tis treatments can improve symptoms and possibly prevent worsening this may include medication exercise and surgery medications used include n￭ s￭ aids ster￭ oids disease modifying anti￭ r￭ heu￭ matic drugs such as meth￭ o￭ tre￭ x￭ ate and bio￭ logic agents such as inf￭ li￭ xim￭ ab between 0 1 and 1 8 of people are affected onset is typically in young adults males are more often affected than females the condition was first fully described in the late 1600 s by bernard connor however skelet￭ ons with an￭ ky￭ losing spon￭ dy￭ li￭ tis are found in egyptian mum￭ m￭ ies the word is from greek an￭ ky￭ los meaning sti￭ ff￭ ening of a joint spon￭ dy￭ los meaning verte￭ bra and i￭ tis meaning infl￭ amm￭ ation
ch￭ on￭ dro￭ cal￭ cin￭ osis
kash￭ in – beck disease
kash￭ in – beck disease k￭ b￭ d is a chronic endemic type of o￭ ste￭ och￭ on￭ dro￭ pa￭ thy disease of the bone that is mainly distributed from nor￭ the￭ astern to south￭ western china involving 15 provinces tibet currently has the highest incidence rate of k￭ b￭ d in china southeast siberia and north korea are other affected areas k￭ b￭ d usually involves children ages 5 – 15 to date more than a million individuals have suffered from k￭ b￭ d the symptoms of k￭ b￭ d include joint pain morning sti￭ ff￭ ness in the joints disturbances of fl￭ ex￭ ion and extension in the el￭ bows enlarged inter p￭ hal￭ ange￭ al joints and limited motion in many joints of the body death of car￭ til￭ age cells in the growth plate and artic￭ ular surface is the basic patho￭ logic feature this can result in growth retar￭ dation and secondary o￭ ste￭ o￭ ar￭ thro￭ sis his￭ to￭ log
kash￭ in – beck disease k￭ b￭ d is a chronic endemic type of o￭ ste￭ och￭ on￭ dro￭ pa￭ thy disease of the bone that is mainly distributed from nor￭ the￭ astern to south￭ western china involving 15 provinces tibet currently has the highest incidence rate of k￭ b￭ d in china southeast siberia and north korea are other affected areas k￭ b￭ d usually involves children ages 5 – 15 to date more than a million individuals have suffered from k￭ b￭ d the symptoms of k￭ b￭ d include joint pain morning sti￭ ff￭ ness in the joints disturbances of fl￭ ex￭ ion and extension in the el￭ bows enlarged inter p￭ hal￭ ange￭ al joints and limited motion in many joints of the body death of car￭ til￭ age cells in the growth plate and artic￭ ular surface is the basic patho￭ logic feature this can result in growth retar￭ dation and secondary o￭ ste￭ o￭ ar￭ thro￭ sis his￭ to￭ logical diagnosis of k￭ b￭ d is particularly difficult clinical and radiological examinations have proved to be the best means for identifying k￭ b￭ d little is known about the early stages of k￭ b￭ d before the visible appearance of the disease becomes evident in the destruction of the joints this disease has been recognized for over 150 years but its eti￭ ology has not yet been completely defined currently the accepted potential causes of k￭ b￭ d include my￭ co￭ toxins present in grain trace mineral deficiency in nutrition and high levels of ful￭ vic acid in drinking water sel￭ en￭ ium and i￭ od￭ ine have been considered the most important deficiencies associated with k￭ b￭ d my￭ co￭ toxins produced by fun￭ gi can contam￭ inate grain which may cause k￭ b￭ d because my￭ co￭ toxins cause the production of free radicals t 2 is the my￭ co￭ toxin implicated with k￭ b￭ d produced by members of several fun￭ gal genera t 2 toxin can cause le￭ sions in hem￭ ato￭ po￭ ie￭ tic lymp￭ ho￭ id gastro￭ intest￭ inal and car￭ til￭ age tissues especially in phy￭ seal car￭ til￭ age ful￭ vic acid present in drinking water damages car￭ til￭ age cells sel￭ en￭ ium supplem￭ entation in sel￭ en￭ ium deficient areas has been shown to prevent this disease however sel￭ en￭ ium supplem￭ entation in some areas showed no significant effect proving that deficiency of sel￭ en￭ ium may not be the dominant cause in k￭ b￭ d recently a significant association between sn￭ p rs 69￭ 10￭ 140 of col 9 a 1 and kash￭ in – beck disease was discovered genetically suggesting a role of col 9 a 1 in the development of kash￭ in – beck disease
pi￭ gm￭ ented vill￭ on￭ od￭ ular sy￭ no￭ vi￭ tis
pi￭ gm￭ ented vill￭ on￭ od￭ ular sy￭ no￭ vi￭ tis pv￭ ns is a joint disease characterized by infl￭ amm￭ ation and over￭ growth of the joint lining it usually affects the hip or knee it can also occur in the shoulder an￭ kle el￭ bow hand or foot in pv￭ ns the lining of the joint called the sy￭ no￭ vi￭ um becomes sw￭ oll￭ en and grows this growth harms the bone next to the joint the lining also makes extra fluid that can cause sw￭ elling and make movement painful pv￭ ns is idi￭ opathic it doesn t seem to run in families or be caused by certain jobs or activities surgery can help but even with treatment pv￭ ns comes back about half the time if the pain remains then radiation therapy may help in the worst cases the joint must be replaced
poly￭ ar￭ thri￭ tis
poly￭ ar￭ thri￭ tis is any type of ar￭ thri￭ tis that involves 5 or more joints simultaneously it is usually associated with auto￭ immune conditions and may be experienced at any age and is not sex specific
neuro￭ path￭ ic ar￭ thro￭ pa￭ thy
neuro￭ path￭ ic ar￭ thro￭ pa￭ thy or neuro￭ path￭ ic o￭ ste￭ o￭ ar￭ thro￭ pa￭ thy also known as char￭ cot joint often char￭ cot foot refers to progressive de￭ generation of a weight bearing joint a process marked by bon￭ y destruction bone resor￭ ption and eventual de￭ form￭ ity onset is usually insidious if this pathological process continues unchecked it can result in joint de￭ form￭ ity ul￭ cer￭ ation and or super￭ infection loss of function and in the worst case scenario ampu￭ tation or death early identification of joint changes is the best way to limit morbi￭ dity
o￭ ste￭ o￭ ar￭ thri￭ tis
o￭ ste￭ o￭ ar￭ thri￭ tis oa is a type of joint disease that results from breakdown of joint car￭ til￭ age and underlying bone the most common symptoms are joint pain and sti￭ ff￭ ness initially symptoms may occur only following exercise but over time may become constant other symptoms may include joint sw￭ elling decreased range of motion and when the back is affected weakness or num￭ b￭ ness of the arms and legs the most commonly involved joints are those near the ends of the fingers at the base of the thumb neck lower back knee and hips joints on one side of the body are often more affected than those on the other usually the symptoms come on over years it can affect work and normal daily activities unlike other types of ar￭ thri￭ tis only the joints are typically affected
o￭ ste￭ o￭ ar￭ thri￭ tis oa is a type of joint disease that results from breakdown of joint car￭ til￭ age and underlying bone the most common symptoms are joint pain and sti￭ ff￭ ness initially symptoms may occur only following exercise but over time may become constant other symptoms may include joint sw￭ elling decreased range of motion and when the back is affected weakness or num￭ b￭ ness of the arms and legs the most commonly involved joints are those near the ends of the fingers at the base of the thumb neck lower back knee and hips joints on one side of the body are often more affected than those on the other usually the symptoms come on over years it can affect work and normal daily activities unlike other types of ar￭ thri￭ tis only the joints are typically affected causes include previous joint injury abnormal joint or limb development and inherited factors risk is greater in those who are overweight have one leg of a different length and have jobs that result in high levels of joint stress o￭ ste￭ o￭ ar￭ thri￭ tis is believed to be caused by mechanical stress on the joint and low grade infl￭ am￭ matory processes it develops as car￭ til￭ age is lost and the underlying bone becomes affected as pain may make it difficult to exercise muscle loss may occur diagnosis is typically based on signs and symptoms with medical imaging and other tests occasionally used to either support or rule out other problems in contrast to r￭ heu￭ mato￭ id ar￭ thri￭ tis which is primarily an infl￭ am￭ matory condition in oa the joints do not typically become hot or red treatment includes exercise efforts to decrease joint stress support groups and pain medications efforts to decrease joint stress include resting and the use of a cane weight loss may help in those who are overweight pain medications may include par￭ acet￭ am￭ ol acet￭ amin￭ oph￭ en as well as n￭ s￭ aids such as na￭ pro￭ x￭ en or i￭ bu￭ prof￭ en long term op￭ io￭ id use is generally discouraged due to lack of information on benefits as well as risks of addiction and other side effects if pain interferes with normal life despite other treatments joint replacement surgery may help an artificial joint typically lasts 10 to 15 years oa is the most common form of ar￭ thri￭ tis with disease of the knee and hip affecting about 3 8 of people as of 2010 among those over 60 years old about 10 of males and 18 of females are affected it is the cause of about 2 of years lived with disability in australia about 1 9 million people are affected and in the united states over 30 million people are affected it becomes more common in both sexes as people become older
b￭ union
a b￭ union is a de￭ form￭ ity of the joint connecting the big toe to the foot it is characterized by medi￭ al deviation of the first met￭ at￭ ar￭ sal bone and lateral deviation of the hall￭ ux big toe often errone￭ ously described as an enlargement of bone or tissue around the joint at the bottom of the big toe known as the met￭ at￭ ar￭ sop￭ hal￭ ange￭ al joint
hall￭ ux rigi￭ dus
hall￭ ux rigi￭ dus or stiff big toe is degenerative ar￭ thri￭ tis and sti￭ ff￭ ness due to bone sp￭ urs that affects the mt￭ p joint at the base of the hall￭ ux big toe hall￭ ux fl￭ exus was initially described by davies colle￭ y in 18￭ 87 as a plan￭ tar fl￭ ex￭ ed posture of p￭ hal￭ an￭ x relative to the met￭ at￭ ar￭ sal head about the same time co￭ t￭ ter￭ ill first used the term hall￭ ux rigi￭ dus
hall￭ ux var￭ us
hall￭ ux var￭ us is a de￭ form￭ ity of the great toe joint where the hall￭ ux is devi￭ ated medi￭ ally towards the mid￭ line of the body away from the first met￭ at￭ ar￭ sal bone the hall￭ ux usually moves in the trans￭ verse plane unlike hall￭ ux val￭ gus hall￭ ux var￭ us is un￭ common in the west but it is common in cultures where the population remains un￭ shod
pigeon toe
val￭ gus de￭ form￭ ity
co￭ xa val￭ ga
co￭ xa val￭ ga is a de￭ form￭ ity of the hip where the angle formed between the head and neck of the fem￭ ur and its shaft is increased usually above 135 degrees it is caused by a slipped ep￭ ip￭ h￭ ysis of the fem￭ oral head the differential diagnosis includes neuro￭ muscular disorders i e cere￭ br￭ al pal￭ sy spinal dys￭ rap￭ h￭ ism poli￭ om￭ ye￭ li￭ tis sk￭ el￭ etal dys￭ pl￭ asi￭ as and juvenile idi￭ opathic ar￭ thri￭ tis
cu￭ bit￭ us val￭ gus
cu￭ bit￭ us val￭ gus is a medical de￭ form￭ ity in which the fore￭ arm is ang￭ led away from the body to a greater degree than normal when fully extended a small degree of cu￭ bit￭ us val￭ gus known as the carrying angle is acceptable and occurs in the general population the opposite condition is cu￭ bit￭ us var￭ us 736 02
cu￭ bit￭ us val￭ gus is a medical de￭ form￭ ity in which the fore￭ arm is ang￭ led away from the body to a greater degree than normal when fully extended a small degree of cu￭ bit￭ us val￭ gus known as the carrying angle is acceptable and occurs in the general population when present at birth it can be an indication of turner syndrome or no￭ on￭ an syndrome it can also be acquired through frac￭ ture or other trauma the physiological cu￭ bit￭ us val￭ gus varies from 3 ° to 29 ° women usually have a more pronounced cu￭ bit￭ us val￭ gus than men the de￭ form￭ ity can also occur as a complic￭ ation of frac￭ ture of the lateral con￭ dy￭ le of the hum￭ er￭ us which may lead to tar￭ dy delayed ul￭ nar nerve pal￭ sy the opposite condition is cu￭ bit￭ us var￭ us 736 02
var￭ us de￭ form￭ ity
co￭ xa var￭ a
co￭ xa var￭ a is a de￭ form￭ ity of the hip whereby the angle between the head and the shaft of the fem￭ ur is reduced to less than 120 degrees this results in the leg being shortened and the development of a lim￭ p it is commonly caused by injury such as a frac￭ ture it can also occur when the bone tissue in the neck of the fem￭ ur is sof￭ ter than normal causing it to bend under the weight of the body this may either be con￭ genital or the result of a bone disorder the most common cause of co￭ xa var￭ a is either con￭ genital or developmental other common causes include metabol￭ ic bone diseases e g pag￭ et s disease of bone post per￭ thes de￭ form￭ ity o￭ ste￭ om￭ ye￭ li￭ tis and post traumatic due to improper healing of a frac￭ ture between the greater and lesser tro￭ chan￭ ter shepherd s crook de￭ form￭ ity is a severe f
flat feet
flat feet also called pes plan￭ us or fallen ar￭ ches is a post￭ ural de￭ form￭ ity in which the ar￭ ches of the foot collapse with the entire sole of the foot coming into complete or near complete contact with the ground some individuals an estimated 20 – 30 of the general population have an arch that simply never develops in one foot unilaterally or both feet bilaterally
flat feet also called pes plan￭ us or fallen ar￭ ches is a post￭ ural de￭ form￭ ity in which the ar￭ ches of the foot collapse with the entire sole of the foot coming into complete or near complete contact with the ground some individuals an estimated 20 – 30 of the general population have an arch that simply never develops in one foot unilaterally or both feet bilaterally there is a functional relationship between the structure of the arch of the foot and the biom￭ ec￭ han￭ ics of the lower leg the arch provides an elastic spring￭ y connection between the fo￭ ref￭ oot and the h￭ ind foot this association safeguards so that a majority of the forces incurred during weight bearing of the foot can be dissip￭ ated before the force reaches the long bones of the leg and thi￭ gh in pes plan￭ us the head of the tal￭ us bone is displaced medi￭ ally and dis￭ tal from the na￭ vic￭ ular as a result the spring lig￭ ament and the tend￭ on of the ti￭ bi￭ alis poster￭ ior muscle are stretched so much so that the individual with pes plan￭ us loses the function of the medi￭ al longit￭ ud￭ inal arch m￭ la if the m￭ la is absent or non￭ functional in both the seated and standing positions the individual has “ rigid ” flat￭ foot if the m￭ la is present and functional while the individual is sitting or standing up on their toes but this arch disappears when assuming a foot flat stance the individual has “ sup￭ ple ” flat￭ foot this latter condition can be correc￭ table with well fitting arch supports three studies see c￭ itations below in military section of military recruits have shown no evidence of later increased injury or foot problems due to flat feet in a population of people who reach military service age without prior foot problems however these studies cannot be used to judge possible future damage from this condition when diagnosed at younger ages they also cannot be applied to persons whose flat feet are associated with foot symptoms or certain symptoms in other parts of the body such as the leg or back possibly refer￭ able to the foot
club foot
club foot or clu￭ b￭ foot also called con￭ genital tali￭ pes equ￭ ino￭ var￭ us c￭ te￭ v is a con￭ genital de￭ form￭ ity involving one foot or both the affected foot appears to have been rot￭ ated internally at the an￭ kle without treatment people with club feet often appear to walk on their an￭ kles or on the sides of their feet however with treatment the vast majority of patients recover completely during early childhood and are able to walk and participate in athle￭ tics just as well as patients born without c￭ te￭ v
club foot or clu￭ b￭ foot also called con￭ genital tali￭ pes equ￭ ino￭ var￭ us c￭ te￭ v is a con￭ genital de￭ form￭ ity involving one foot or both the affected foot appears to have been rot￭ ated internally at the an￭ kle without treatment people with club feet often appear to walk on their an￭ kles or on the sides of their feet however with treatment the vast majority of patients recover completely during early childhood and are able to walk and participate in athle￭ tics just as well as patients born without c￭ te￭ v it is a relatively common birth defect occurring in about one in every 1 000 live births approximately half of people with clu￭ b￭ foot have it affect both feet which is called bilateral club foot in most cases it is an isolated disorder of the limbs it occurs in males twice as frequently as in females a condition of the same name appears in some non human animals particularly horses though in that particular case it is more akin to stepping en poin￭ te than side￭ ways
unequal leg length
gen￭ u recur￭ vat￭ um
gen￭ u recur￭ vat￭ um is a de￭ form￭ ity in the knee joint so that the knee ben￭ ds backwards in this de￭ form￭ ity excessive extension occurs in the ti￭ bi￭ of￭ em￭ oral joint gen￭ u recur￭ vat￭ um is also called knee hyper￭ extension and back knee this de￭ form￭ ity is more common in women and people with famili￭ al lig￭ am￭ ent￭ ous lax￭ ity hyper￭ extension of the knee may be mild moderate or severe
gen￭ u recur￭ vat￭ um is a de￭ form￭ ity in the knee joint so that the knee ben￭ ds backwards in this de￭ form￭ ity excessive extension occurs in the ti￭ bi￭ of￭ em￭ oral joint gen￭ u recur￭ vat￭ um is also called knee hyper￭ extension and back knee this de￭ form￭ ity is more common in women and people with famili￭ al lig￭ am￭ ent￭ ous lax￭ ity hyper￭ extension of the knee may be mild moderate or severe the normal range of motion rom of the knee joint is from 0 to 135 degrees in an adult full knee extension should be no more than 10 degrees in gen￭ u recur￭ vat￭ um back knee normal extension is increased the development of gen￭ u recur￭ vat￭ um may lead to knee pain and knee o￭ ste￭ o￭ ar￭ thri￭ tis
lux￭ ating pat￭ ella
lux￭ ating pat￭ ella or trick knee su￭ blu￭ x￭ ation of pat￭ ella floating pat￭ ella or floating kne￭ ec￭ ap is a condition in which the pat￭ ella or kne￭ ec￭ ap dis￭ loc￭ ates or moves out of its normal location pat￭ ell￭ ar lux￭ ation is a common condition in dogs particularly small and miniature breeds the condition usually becomes evident between the ages of 4 to 6 months it can occur in cats as well especially the domestic shor￭ th￭ air it also occurs in humans where it can be associated with damage to the an￭ terior cruci￭ ate lig￭ ament
ch￭ on￭ dro￭ mal￭ ac￭ ia pat￭ el￭ la￭ e
ch￭ on￭ dro￭ mal￭ ac￭ ia pat￭ el￭ la￭ e also known as c￭ mp is infl￭ amm￭ ation of the under￭ side of the pat￭ ella and sof￭ tening of the car￭ til￭ age ch￭ on￭ dro￭ mal￭ ac￭ ia pat￭ el￭ la￭ e is a term sometimes treated synonym￭ ously with pat￭ el￭ lo￭ fem￭ oral pain syndrome however there is general consensus that pat￭ el￭ lo￭ fem￭ oral pain syndrome is a term that applies only to individuals without car￭ til￭ age damage thereby distinguishing it from ch￭ on￭ dro￭ mal￭ ac￭ ia pat￭ el￭ la￭ e a condition characterized by sof￭ tening of the pat￭ ell￭ ar artic￭ ular car￭ til￭ age
contrac￭ ture
a muscle contrac￭ ture is a permanent shortening of a muscle or joint it is usually in response to prolonged hyper￭ tonic sp￭ as￭ tic￭ ity in a concentrated muscle area such as is seen in the tigh￭ test muscles of people with conditions like sp￭ astic cere￭ br￭ al pal￭ sy contr￭ actu￭ res can also be due to is￭ chem￭ ia as in volk￭ mann s contrac￭ ture excessive matrix metal￭ lo￭ prote￭ in￭ ase and my￭ o￭ fi￭ bro￭ blast accumulation in the wound margins can result in contrac￭ ture
an￭ ky￭ losis
an￭ ky￭ losis or anch￭ y￭ losis from greek ἀ￭ γ￭ κ￭ ύ￭ λο￭ ς bent cro￭ oked is a sti￭ ff￭ ness of a joint due to abnormal adhe￭ sion and rigidity of the bones of the joint which may be the result of injury or disease the rigidity may be complete or partial and may be due to infl￭ amm￭ ation of the tend￭ inous or muscular structures outside the joint or of the tissues of the joint itself no￭ ma — a gang￭ ren￭ ous disease still widespread among mal￭ nourished children living on the borders of the sahara desert — can cause an￭ ky￭ losis of the max￭ illa and man￭ di￭ ble imp￭ airing the ability to speak and eat
pro￭ tru￭ si￭ o ace￭ tab￭ uli
pro￭ tru￭ si￭ o ace￭ tab￭ uli is an un￭ common defect of the ace￭ tab￭ ul￭ um the ace￭ tab￭ ul￭ um is the socket that receives the fem￭ oral head to make the hip joint the hip bone of the pel￭ vic bone gir￭ dle is composed of three bones the ili￭ um the is￭ chi￭ um and the pu￭ bis in pro￭ tru￭ si￭ o de￭ form￭ ity there is medi￭ al displacement of the fem￭ oral head in that the medi￭ al aspect of the fem￭ oral cor￭ tex is medi￭ al to the ili￭ ois￭ ch￭ ial line the socket is too deep and may pro￭ tru￭ de into the pel￭ vis
hem￭ ar￭ thro￭ sis
hem￭ ar￭ thro￭ sis or ha￭ em￭ ar￭ thro￭ sis plural h a em￭ ar￭ thro￭ ses is a bleeding into joint spaces it is a common feature of hem￭ ophi￭ lia the presence of it excludes the idi￭ opathic thro￭ m￭ bo￭ cy￭ top￭ en￭ ic pur￭ pur￭ a it￭ p
ar￭ thr￭ al￭ gia
ar￭ thr￭ al￭ gia from greek arth￭ ro joint al￭ gos pain literally means joint pain it is a symptom of injury infection illnesses in particular ar￭ thri￭ tis or an allergic reaction to medication according to mesh the term ar￭ thr￭ al￭ gia should only be used when the condition is non infl￭ am￭ matory and the term ar￭ thri￭ tis should be used when the condition is infl￭ am￭ matory
o￭ ste￭ op￭ hy￭ te
pro￭ gn￭ ath￭ ism
poly￭ arter￭ i￭ tis no￭ do￭ sa
poly￭ arter￭ i￭ tis no￭ do￭ sa also known as pan￭ arter￭ i￭ tis no￭ do￭ sa peri￭ arter￭ i￭ tis no￭ do￭ sa k￭ us￭ s￭ ma￭ ul disease k￭ us￭ s￭ ma￭ ul ma￭ ier disease or pan is a systemic vas￭ cu￭ li￭ tis of small or medium sized muscular arter￭ ies typically involving ren￭ al and vis￭ cer￭ al vessels but spar￭ ing the pul￭ mon￭ ary circulation poly￭ arter￭ i￭ tis no￭ do￭ sa may present in infants in poly￭ arter￭ i￭ tis no￭ do￭ sa small an￭ eur￭ ys￭ ms are str￭ ung like the be￭ ads of a ros￭ ary therefore making ros￭ ary sign an important diagnostic feature of the vas￭ cu￭ li￭ tis
e￭ o￭ sin￭ oph￭ il￭ ic gran￭ ul￭ om￭ at￭ osis with pol￭ yan￭ gi￭ i￭ tis
e￭ o￭ sin￭ oph￭ il￭ ic gran￭ ul￭ om￭ at￭ osis with pol￭ yan￭ gi￭ i￭ tis eg￭ pa also known as chur￭ g strauss syndrome c￭ ss or allergic gran￭ ul￭ om￭ at￭ osis is a rare auto￭ immune condition that causes infl￭ amm￭ ation of small and medium sized blood vessels vas￭ cu￭ li￭ tis in persons with a history of air￭ way allergic hy￭ pers￭ ensi￭ tivity at￭ op￭ y effective treatment of eg￭ pa requires suppression of the immune system with medication this is typically glu￭ co￭ cor￭ ti￭ co￭ ids followed by other agents such as cycl￭ op￭ hosp￭ ham￭ ide or az￭ ath￭ iop￭ rine
k￭ aw￭ as￭ aki disease
k￭ aw￭ as￭ aki disease is a disease in which blood vessels throughout the body become infl￭ amed the most common symptoms include a fever that lasts for more than five days and is not controlled by usual medications large lymp￭ h no￭ des in the neck a rash in the genital area and red eyes lips pal￭ ms or bott￭ oms of the feet other symptoms include sore throat and diarr￭ hea within three weeks of the onset of symptoms the skin from the hands and feet may peel recovery then typically occurs in some children coron￭ ary artery an￭ eur￭ ys￭ ms may form in the heart
co￭ gan syndrome
co￭ gan syndrome is a rare disorder characterized by recurrent infl￭ amm￭ ation of the front of the eye the cor￭ ne￭ a and often fever fatigue and weight loss episodes of di￭ zz￭ iness and hearing loss it can lead to deaf￭ ness or blindness if untreated the classic form of the disease was first described by d g co￭ gan in 1945
sne￭ d￭ don s syndrome
good￭ pasture syndrome
good￭ pasture syndrome gps also known as good￭ pasture ’ s disease anti￭ glo￭ mer￭ ular basement anti￭ body disease or anti g￭ bm disease is a rare auto￭ immune disease in which antibodies attack the basement memb￭ rane in lungs and kidneys leading to bleeding from the lungs and kidney failure it is thought to attack the alpha 3 sub￭ unit of type iv coll￭ agen which has therefore been referred to as good￭ pasture s antigen good￭ pasture syndrome may quickly result in permanent lung and kidney damage often leading to death it is treated with immun￭ o￭ sup￭ pres￭ sant drugs such as cor￭ ti￭ co￭ ster￭ oids and cycl￭ op￭ hosp￭ ham￭ ide and with plas￭ map￭ her￭ esis in which the antibodies are removed from the blood famous sufferers include vince earl an actor on the british soap opera brook￭ side who underwent a successful kidney trans￭ p
good￭ pasture syndrome gps also known as good￭ pasture ’ s disease anti￭ glo￭ mer￭ ular basement anti￭ body disease or anti g￭ bm disease is a rare auto￭ immune disease in which antibodies attack the basement memb￭ rane in lungs and kidneys leading to bleeding from the lungs and kidney failure it is thought to attack the alpha 3 sub￭ unit of type iv coll￭ agen which has therefore been referred to as good￭ pasture s antigen good￭ pasture syndrome may quickly result in permanent lung and kidney damage often leading to death it is treated with immun￭ o￭ sup￭ pres￭ sant drugs such as cor￭ ti￭ co￭ ster￭ oids and cycl￭ op￭ hosp￭ ham￭ ide and with plas￭ map￭ her￭ esis in which the antibodies are removed from the blood famous sufferers include vince earl an actor on the british soap opera brook￭ side who underwent a successful kidney transplant in 2012 the disease was first described by an american patho￭ logist ern￭ est good￭ pasture of van￭ der￭ bil￭ t university in 19￭ 19 and was later named in his honor
up￭ shaw – schul￭ man syndrome
up￭ shaw – schul￭ man syndrome uss is the rec￭ essively inherited form of thro￭ m￭ bo￭ tic thro￭ m￭ bo￭ cy￭ top￭ en￭ ic pur￭ pur￭ a ttp a rare and complex blood co￭ ag￭ ulation disease uss is caused by the absence of the adam￭ ts 13 prote￭ ase resulting in the persistence of unusually large von wil￭ le￭ brand factor mul￭ tim￭ ers ul￭ v￭ w￭ f causing episodes of acute thro￭ m￭ bo￭ tic micro￭ an￭ gi￭ opathy with disseminated multiple small vessel obstruc￭ tions these obstruc￭ tions deprive downstream tissues from blood and oxygen which can result in tissue damage and death the presentation of an acute uss episode is variable but usually associated with thro￭ m￭ bo￭ cy￭ top￭ enia micro￭ an￭ gi￭ opathic hem￭ ol￭ y￭ tic an￭ emia ma￭ ha with sch￭ is￭ to￭ cy￭ tes on the peripheral blood sme￭ ar fever and signs of is￭ chem￭ ic organ damage in the brain kidney and heart
gran￭ ul￭ om￭ at￭ osis with pol￭ yan￭ gi￭ i￭ tis
gran￭ ul￭ om￭ at￭ osis with pol￭ yan￭ gi￭ i￭ tis g￭ pa previously known as we￭ gen￭ er s gran￭ ul￭ om￭ at￭ osis w￭ g is a systemic disorder that involves both gran￭ ul￭ om￭ at￭ osis and pol￭ yan￭ gi￭ i￭ tis it is a form of vas￭ cu￭ li￭ tis infl￭ amm￭ ation of blood vessels that affects small and medium size vessels in many organs damage to the lungs and kidneys can be fatal it requires long term immun￭ o￭ suppression the condition was originally named for friedrich we￭ gen￭ er who described the disease in 1936 as a response to we￭ gen￭ er s association with the german nazi party professional bodies and journals have replaced his name with a descriptive name however the older name is still often seen
tak￭ ay￭ as￭ u s arter￭ i￭ tis
tak￭ ay￭ as￭ u s disease also known as a￭ or￭ tic arch syndrome non￭ specific a￭ or￭ to￭ arter￭ i￭ tis and pul￭ seless disease is a form of large vessel gran￭ ul￭ om￭ at￭ ous vas￭ cu￭ li￭ tis with massive intim￭ al fi￭ bro￭ sis and vascular narrowing most commonly affecting often young or middle age women of asian descent though anyone can be affected it mainly affects the a￭ or￭ ta the main blood vessel leaving the heart and its branches as well as the pul￭ mon￭ ary arter￭ ies females are about 8 – 9 times more likely to be affected than males
giant cell arter￭ i￭ tis
giant cell arter￭ i￭ tis g￭ ca also called temporal arter￭ i￭ tis cran￭ ial arter￭ i￭ tis or hor￭ ton disease is an infl￭ am￭ matory disease of blood vessels most commonly involving large and medium arter￭ ies of the head predominantly the branches of the external caro￭ ti￭ d artery the most serious complic￭ ation is oc￭ clu￭ sion of the oph￭ thal￭ mic artery which is a branch of the internal caro￭ ti￭ d it can create a medical emergency which can cause irreversible is￭ chem￭ ia and blindness if not treated promptly g￭ ca is treated with glu￭ co￭ cor￭ ti￭ co￭ ids ster￭ oids which reduce the infl￭ amm￭ ation and prevent oc￭ clu￭ sion no other drugs are effective or contribute to the effect of glu￭ co￭ cor￭ ti￭ co￭ ids
giant cell arter￭ i￭ tis g￭ ca also called temporal arter￭ i￭ tis cran￭ ial arter￭ i￭ tis or hor￭ ton disease is an infl￭ am￭ matory disease of blood vessels most commonly involving large and medium arter￭ ies of the head predominantly the branches of the external caro￭ ti￭ d artery the most serious complic￭ ation is oc￭ clu￭ sion of the oph￭ thal￭ mic artery which is a branch of the internal caro￭ ti￭ d it can create a medical emergency which can cause irreversible is￭ chem￭ ia and blindness if not treated promptly g￭ ca is treated with glu￭ co￭ cor￭ ti￭ co￭ ids ster￭ oids which reduce the infl￭ amm￭ ation and prevent oc￭ clu￭ sion no other drugs are effective or contribute to the effect of glu￭ co￭ cor￭ ti￭ co￭ ids g￭ ca is a form of vas￭ cu￭ li￭ tis it typically causes infl￭ amm￭ ation of the network of small vessels v￭ asa vas￭ orum that supplies the larger arter￭ ies g￭ ca affects arter￭ ies of the head and neck including the three arter￭ ies that branch out from the arch of the asc￭ ending a￭ or￭ ta and their branches — the thor￭ ac￭ ic a￭ or￭ ta the ax￭ ill￭ ary arter￭ ies the vertebr￭ al arter￭ ies and further on in the head in the oph￭ thal￭ mic and external caro￭ ti￭ d arter￭ ies the temporal and oc￭ ci￭ p￭ ital arter￭ ies it can cause oc￭ clu￭ sion of the arter￭ ies and is￭ chem￭ ia g￭ ca is diagnosed with biopsy of the temporal artery while the clinical presentation patient characteristics and blood test mark￭ ers of infl￭ amm￭ ation can raise suspicion only a temporal artery biopsy can give definite diagnosis some cases may not involve the temporal artery and distinguishing between a false negative and the absence of g￭ ca is difficult the terms giant cell arter￭ i￭ tis and temporal arter￭ i￭ tis are sometimes used inter￭ change￭ ably because of the frequent involvement of the temporal artery however it can involve other large vessels such as the a￭ or￭ ta in giant cell a￭ or￭ ti￭ tis giant cell arter￭ i￭ tis of the temporal artery is referred to as temporal arter￭ i￭ tis and is also known as cran￭ ial arter￭ i￭ tis and hor￭ ton s disease the name giant cell arter￭ i￭ tis reflects the type of infl￭ am￭ matory cell involved as seen on a biopsy
micro￭ scopic pol￭ yan￭ gi￭ i￭ tis
micro￭ scopic pol￭ yan￭ gi￭ i￭ tis is an ill defined auto￭ immune disease characterized by a systemic pau￭ ci immune necro￭ tizing small vessel vas￭ cu￭ li￭ tis without clinical or pathological evidence of necro￭ tizing gran￭ ul￭ om￭ at￭ ous infl￭ amm￭ ation
systemic lup￭ us er￭ y￭ them￭ ato￭ sus
systemic lup￭ us er￭ y￭ them￭ ato￭ sus s￭ le also known simply as lup￭ us is an auto￭ immune disease in which the body ’ s immune system mistakenly attacks healthy tissue in many parts of the body symptoms vary between people and may be mild to severe common symptoms include painful and sw￭ oll￭ en joints fever chest pain hair loss mouth ul￭ cers sw￭ oll￭ en lymp￭ h no￭ des feeling tired and a red rash which is most commonly on the face often there are periods of illness called fla￭ res and periods of remission when there are few symptoms
systemic lup￭ us er￭ y￭ them￭ ato￭ sus s￭ le also known simply as lup￭ us is an auto￭ immune disease in which the body ’ s immune system mistakenly attacks healthy tissue in many parts of the body symptoms vary between people and may be mild to severe common symptoms include painful and sw￭ oll￭ en joints fever chest pain hair loss mouth ul￭ cers sw￭ oll￭ en lymp￭ h no￭ des feeling tired and a red rash which is most commonly on the face often there are periods of illness called fla￭ res and periods of remission when there are few symptoms the cause is not entirely clear it is believed to involve hormonal environmental and genetic factors among identical twins if one is affected there is a 24 chance the other one will be as well female sex hormones sunlight smoking vitamin d deficiency and certain infections are also believed to increase the risk the mechanism involves an immune response by auto￭ antibodies against a person s own tissues these are most commonly anti nuclear antibodies and they result in infl￭ amm￭ ation diagnosis can be difficult and is based on a combination of symptoms and laboratory tests there are a number of other kinds of lup￭ us er￭ y￭ them￭ ato￭ sus including dis￭ co￭ id lup￭ us er￭ y￭ them￭ ato￭ sus ne￭ on￭ atal lup￭ us and sub￭ acute cu￭ taneous lup￭ us er￭ y￭ them￭ ato￭ sus there is no cure for s￭ le treatments may include n￭ s￭ aids cor￭ ti￭ co￭ ster￭ oids immun￭ o￭ sup￭ pres￭ s￭ ants hydroxy￭ chloro￭ qu￭ ine and meth￭ o￭ tre￭ x￭ ate alternative medicine has not been shown to affect the disease life expectancy is lower among people with s￭ le s￭ le significantly increases the risk of cardiovascular disease with this being the most common cause of death with modern treatment about 80 of those affected survive more than 15 years women with lup￭ us have pregnancies that are higher risk but are mostly successful rates of disease vary between countries from 20 to 70 per 100 000 women of child￭ bearing age are affected about nine times more often than men while it most commonly begins between the ages of 15 and 45 a wide range of ages can be affected those of african caribbean and chinese descent are at higher risk than white people rates of disease in the developing world are unclear lup￭ us is latin for wolf as in the 18 th century it was thought to be caused by a wolf s bite
der￭ mat￭ om￭ yo￭ si￭ tis
poly￭ my￭ osi￭ tis
poly￭ my￭ osi￭ tis pm infl￭ amm￭ ation of many muscles is a type of chronic infl￭ amm￭ ation of the muscles infl￭ am￭ matory my￭ opathy related to der￭ mat￭ om￭ yo￭ si￭ tis and inclusion body my￭ osi￭ tis the infl￭ amm￭ ation is predominantly of the end￭ om￭ y￭ sium in poly￭ my￭ osi￭ tis whereas der￭ mat￭ om￭ yo￭ si￭ tis is characterized by primarily perim￭ y￭ si￭ al infl￭ amm￭ ation
c￭ rest syndrome
sjö￭ gre￭ n s syndrome
sjö￭ gre￭ n s syndrome s￭ j￭ s ss is a long term auto￭ immune disease in which the moisture producing g￭ lands of the body are affected this results primarily in the development of a dry mouth and dry eyes other symptoms can include dry skin a chronic cough vag￭ inal dr￭ y￭ ness num￭ b￭ ness in the arms and legs feeling tired muscle and joint pains and thyro￭ id problems those affected are at an increased risk 5 of lymp￭ homa
mixed connec￭ tive tissue disease
in medicine mixed connec￭ tive tissue disease also known as sharp s syndrome commonly abbreviated as mc￭ td is an auto￭ immune disease in which the body s defense system attacks itself it was characterized in 1972 and the term was introduced by lero￭ y in 1980 it is sometimes said to be the same as un￭ differentiated connec￭ tive tissue disease but other experts specifically reject this idea because un￭ differentiated connec￭ tive tissue disease is not necessarily associated with serum antibodies directed against the u 1 r￭ n￭ p and mc￭ td is associated with a more clearly defined set of signs symptoms
beh￭ ç￭ et s disease
beh￭ ç￭ et s disease is a rare immune medi￭ ated small vessel systemic vas￭ cu￭ li￭ tis that often presents with mu￭ co￭ us memb￭ rane ul￭ cer￭ ation and oc￭ ular problems the disease was named in 19￭ 37 after the turkish der￭ mato￭ logist hul￭ u￭ si beh￭ ç￭ et who first described the triple symptom complex of recurrent oral aph￭ th￭ ous ul￭ cers genital ul￭ cers and u￭ ve￭ i￭ tis – a disease of the eye as a systemic disease it can also involve vis￭ cer￭ al organs such as the gastro￭ intest￭ inal tract pul￭ mon￭ ary mus￭ cul￭ osk￭ el￭ etal cardiovascular and neuro￭ logical systems this syndrome can be fatal due to rup￭ tured vascular an￭ eur￭ ys￭ ms or severe neuro￭ logical complications
poly￭ my￭ al￭ gia r￭ heu￭ m￭ atica
poly￭ my￭ al￭ gia r￭ heu￭ m￭ atica p￭ mr is a syndrome with pain or sti￭ ff￭ ness usually in the neck shoulders upper arms and hips but which may occur all over the body the pain can be very sudden or can occur gradually over a period most people with p￭ mr wake up in the morning with pain in their muscles however cases have occurred in which the person has developed the pain during the ev￭ enings or has pain and sti￭ ff￭ ness all day long people who have poly￭ my￭ al￭ gia r￭ heu￭ m￭ atica may also have temporal arter￭ i￭ tis an infl￭ amm￭ ation of blood vessels in the face which can cause blindness if not treated quickly the pain and sti￭ ff￭ ness can result in a lowered quality of life and can lead to depression
ne￭ ph￭ ro￭ genic systemic fi￭ bro￭ sis
ne￭ ph￭ ro￭ genic systemic fi￭ bro￭ sis n￭ sf or ne￭ ph￭ ro￭ genic fi￭ bro￭ sing der￭ mop￭ athy n￭ fd is a rare and serious syndrome that involves fi￭ bro￭ sis of skin joints eyes and internal organs the first cases were identified in 1997 and its cause is not fully understood however evidence suggests n￭ sf is associated with exposure to g￭ adol￭ ini￭ um with g￭ adol￭ ini￭ um based m￭ ri contrast agents being frequently used as contrast agents for magnetic resonance imaging m￭ ri in patients with severe kidney failure epidemiological studies suggest that the incidence of n￭ sf is unrelated to gender race or age and it is not thought to have a genetic basis a registry for n￭ sf has identified about 335 cases as of 2011
hyper￭ mobility joints
toxic oil syndrome
toxic oil syndrome or simply toxic syndrome spanish s￭ ín￭ dro￭ me del ace￭ ite t￭ ó￭ x￭ ico or s￭ ín￭ dro￭ me t￭ ó￭ x￭ ico is a mus￭ cul￭ osk￭ el￭ etal disease most famous for a 1981 outbreak in spain which killed over 600 people and was likely caused by contaminated col￭ za oil its first appearance was as a lung disease with unusual features though the symptoms initially resemb￭ led a lung infection antibiotics were ineffective the disease appeared to be restricted to certain geographical loc￭ alities and several members of a family could be affected even while their neighbours had no symptoms following the acute phase a range of other chronic symptoms was apparent
ky￭ pho￭ sis
ky￭ pho￭ sis from greek κ￭ υ￭ φ￭ ός ky￭ pho￭ s a hum￭ p refers to the abnormally excessive conv￭ ex ky￭ pho￭ tic cur￭ v￭ ature of the sp￭ ine as it occurs in the cer￭ vic￭ al thor￭ ac￭ ic and sac￭ ral regions normal inward con￭ cave cur￭ ving of the cer￭ vic￭ al and lum￭ bar regions of the sp￭ ine is called lor￭ do￭ sis ky￭ pho￭ sis can be called round￭ back or kel￭ so s hun￭ ch￭ back it can result from degenerative diseases such as ar￭ thri￭ tis developmental problems most commonly sch￭ eu￭ er￭ mann s disease o￭ ste￭ op￭ or￭ osis with compression fractu￭ res of the verte￭ bra multiple my￭ el￭ oma or trauma a normal thor￭ ac￭ ic sp￭ ine extends from the 1 st to the 12 th verte￭ bra and should have a slight ky￭ pho￭ tic angle ranging from 20 ° to 45 ° when the round￭ ness of the upper sp￭ ine increases past 45 ° it is called ky￭ pho￭ sis or hyper￭ ky￭ pho￭ sis sch￭ eu￭ er￭ mann s ky￭ pho￭ sis is the
ky￭ pho￭ sis from greek κ￭ υ￭ φ￭ ός ky￭ pho￭ s a hum￭ p refers to the abnormally excessive conv￭ ex ky￭ pho￭ tic cur￭ v￭ ature of the sp￭ ine as it occurs in the cer￭ vic￭ al thor￭ ac￭ ic and sac￭ ral regions normal inward con￭ cave cur￭ ving of the cer￭ vic￭ al and lum￭ bar regions of the sp￭ ine is called lor￭ do￭ sis ky￭ pho￭ sis can be called round￭ back or kel￭ so s hun￭ ch￭ back it can result from degenerative diseases such as ar￭ thri￭ tis developmental problems most commonly sch￭ eu￭ er￭ mann s disease o￭ ste￭ op￭ or￭ osis with compression fractu￭ res of the verte￭ bra multiple my￭ el￭ oma or trauma a normal thor￭ ac￭ ic sp￭ ine extends from the 1 st to the 12 th verte￭ bra and should have a slight ky￭ pho￭ tic angle ranging from 20 ° to 45 ° when the round￭ ness of the upper sp￭ ine increases past 45 ° it is called ky￭ pho￭ sis or hyper￭ ky￭ pho￭ sis sch￭ eu￭ er￭ mann s ky￭ pho￭ sis is the most classic form of hyper￭ ky￭ pho￭ sis and is the result of we￭ dged verte￭ bra￭ e that develop during adoles￭ cence the cause is not currently known and the condition appears to be multi￭ fac￭ torial and is seen more frequently in males than females in the sense of a de￭ form￭ ity it is the pathological cur￭ ving of the sp￭ ine where parts of the spinal column lose some or all of their lor￭ do￭ tic profile this causes a bo￭ wing of the back seen as a sl￭ ou￭ ching posture while most cases of ky￭ pho￭ sis are mild and only require routine monitoring serious cases can be deb￭ il￭ itating high degrees of ky￭ pho￭ sis can cause severe pain and discomfort breathing and dig￭ estion difficulties cardiovascular irregularities neuro￭ logical compromise and in the more severe cases significantly shortened life sp￭ ans these types of high end cur￭ ves typically do not respond well to conservative treatment and almost always warrant spinal fusion surgery which can restore the body s natural degree of cur￭ v￭ ature the co￭ bb angle is the preferred method of measuring ky￭ pho￭ sis
lor￭ do￭ sis
the term lor￭ do￭ sis refers to the normal inward lor￭ do￭ tic cur￭ v￭ ature of the lum￭ bar and cer￭ vic￭ al regions of the sp￭ ine excessive cur￭ v￭ ature of the lower back is known as lum￭ bar hyper￭ lor￭ do￭ sis commonly called hollow back or saddle back after a similar condition that affects some horses a major feature of lum￭ bar hyper￭ lor￭ do￭ sis is a forward pel￭ vic tilt resulting in the pel￭ vis resting on top of the thi￭ ghs cur￭ v￭ ature in the opposite conv￭ ex direction in the thor￭ ac￭ ic and sac￭ ral regions is termed ky￭ pho￭ tic when this cur￭ v￭ ature is excessive it is called ky￭ pho￭ sis or hyper￭ ky￭ pho￭ sis
spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy
spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy or spon￭ dy￭ lo￭ ar￭ thro￭ sis refers to any joint disease of the vertebr￭ al column as such it is a class or category of diseases rather than a single specific entity it differs from spon￭ dyl￭ opathy which is a disease of the verte￭ bra itself however many conditions involve both spon￭ dyl￭ opathy and spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy
spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy or spon￭ dy￭ lo￭ ar￭ thro￭ sis refers to any joint disease of the vertebr￭ al column as such it is a class or category of diseases rather than a single specific entity it differs from spon￭ dyl￭ opathy which is a disease of the verte￭ bra itself however many conditions involve both spon￭ dyl￭ opathy and spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy with infl￭ amm￭ ation is called an￭ ky￭ losing spon￭ dy￭ li￭ tis in the broadest sense the term spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy includes joint involvement of vertebr￭ al column from any type of joint disease including r￭ heu￭ mato￭ id ar￭ thri￭ tis and o￭ ste￭ o￭ ar￭ thri￭ tis but the term is often used for a specific group of disorders with certain common features the group often being termed specifically ser￭ on￭ eg￭ ative spon￭ dy￭ lar￭ thro￭ path￭ ies they have an increased incidence of h￭ la b 27 as well as negative r￭ heu￭ mato￭ id factor and ana en￭ thes￭ opathy is also sometimes present in association with ser￭ on￭ eg￭ ative spon￭ dar￭ thri￭ ti￭ des non vertebr￭ al signs and symptoms of degenerative or other not directly infected infl￭ am￭ ation in the manner of spon￭ dy￭ lo￭ ar￭ thro￭ path￭ ies include asymmetric peripheral ar￭ thri￭ tis which is distinct from r￭ heu￭ mato￭ id ar￭ thri￭ tis ar￭ thri￭ tis of the toe inter￭ p￭ hal￭ ange￭ al joints sausage digits achilles tend￭ initi￭ s plan￭ tar fas￭ ci￭ i￭ tis co￭ sto￭ ch￭ on￭ dri￭ tis i￭ ri￭ tis and mu￭ co￭ cu￭ taneous le￭ sions however lower back pain is the most common clinical presentation of the causes of spon￭ dy￭ lo￭ ar￭ thro￭ po￭ ath￭ ies this back pain is unique because it decreases with activity
sco￭ li￭ osis
sco￭ li￭ osis is a medical condition in which a person s sp￭ ine has a side￭ ways curve the curve is usually s or c shaped in some the degree of curve is stable while in others it increases over time mild sco￭ li￭ osis does not typically cause problems while severe cases can interfere with breathing pain is typically not present sco￭ li￭ osis occurs in about 3 of people it most commonly occurs between the ages of ten and twenty girls typically are more severely affected than boys the term is from ancient greek σ￭ κο￭ λ￭ ί￭ ω￭ σ￭ ις s￭ ko￭ li￭ osis which means a b￭ ending
o￭ ste￭ och￭ on￭ dro￭ sis
sch￭ eu￭ er￭ mann s disease
sch￭ eu￭ er￭ mann s disease is considered to be a form of juvenile o￭ ste￭ och￭ on￭ dro￭ sis of the sp￭ ine it is found mostly in teenagers and presents a significantly worse de￭ form￭ ity than post￭ ural ky￭ pho￭ sis patients suffering with sch￭ eu￭ er￭ mann ’ s ky￭ pho￭ sis cannot consciously correct their posture the ap￭ ex of their curve located in the thor￭ ac￭ ic verte￭ bra￭ e is quite rigid
sch￭ eu￭ er￭ mann s disease is considered to be a form of juvenile o￭ ste￭ och￭ on￭ dro￭ sis of the sp￭ ine it is found mostly in teenagers and presents a significantly worse de￭ form￭ ity than post￭ ural ky￭ pho￭ sis patients suffering with sch￭ eu￭ er￭ mann ’ s ky￭ pho￭ sis cannot consciously correct their posture the ap￭ ex of their curve located in the thor￭ ac￭ ic verte￭ bra￭ e is quite rigid sch￭ eu￭ er￭ mann s disease is notorious for causing lower and mid level back and neck pain which can be severe and disab￭ ling the suffer￭ er may feel pain at the ap￭ ex of the curve which is aggravated by physical activity and by periods of standing or sitting this can have a significantly detrimental effect to their lives as their level of activity is curbed by their disability the suffer￭ er may feel isolated or uneasy amongst their peers if they are children depending on the level of de￭ form￭ ity in addition to the pain associated with sch￭ eu￭ er￭ mann s disease many sufferers of the disorder have loss of vertebr￭ al height and depending on where the ap￭ ex of the curve is may have a visual hun￭ ch￭ back or round￭ back it has been reported that cur￭ ves in the lower thor￭ ac￭ ic region cause more pain whereas cur￭ ves in the upper region present a more visual de￭ form￭ ity nevertheless it is typically pain or cosmetic reasons that prompt sufferers to seek help for their condition in studies ky￭ pho￭ sis is better characterized for the thor￭ ac￭ ic sp￭ ine than for the lum￭ bar sp￭ ine the seventh and tenth thor￭ ac￭ ic verte￭ bra￭ e are most commonly affected it causes back￭ ache and spinal cur￭ v￭ ature in very serious cases it may cause internal problems and spinal cord damage but these cases are extremely rare the cur￭ v￭ ature of the back decreases height thus putting pressure on internal organs wearing them out more quickly than the natural aging process surgical procedures are almost always recommended in this case
spon￭ dy￭ lo￭ lysis
spon￭ dy￭ lo￭ lysis sp￭ on dee low l￭ ye sis is defined as a defect or stress frac￭ ture in the par￭ s inter￭ artic￭ ul￭ aris of the vertebr￭ al arch the vast majority of cases occur in the lower lum￭ bar verte￭ bra￭ e l 5 but spon￭ dy￭ lo￭ lysis may also occur in the cer￭ vic￭ al verte￭ bra￭ e
spon￭ dy￭ lo￭ lis￭ thesis
spon￭ dy￭ lo￭ lis￭ thesis is the forward displacement of a vertebr￭ al bone in relation to the natural curve of the sp￭ ine most commonly occurring after a frac￭ ture and most often the fifth lum￭ bar verte￭ bra backward displacement is referred to as retro￭ lis￭ thesis when occurring in conjunction with sco￭ li￭ osis the shortened term ol￭ is￭ thesis may sometimes be used instead
spon￭ dy￭ lo￭ lis￭ thesis is the forward displacement of a vertebr￭ al bone in relation to the natural curve of the sp￭ ine most commonly occurring after a frac￭ ture and most often the fifth lum￭ bar verte￭ bra backward displacement is referred to as retro￭ lis￭ thesis when occurring in conjunction with sco￭ li￭ osis the shortened term ol￭ is￭ thesis may sometimes be used instead a hang￭ man s frac￭ ture is a specific type of spon￭ dy￭ lo￭ lis￭ thesis where the second cer￭ vic￭ al verte￭ bra c 2 is displaced an￭ ter￭ ior￭ ly relative to the c 3 verte￭ bra due to fractu￭ res of the c 2 verte￭ bra s pe￭ dic￭ les this is the cause of death in hanging
tor￭ ti￭ coll￭ is
tor￭ ti￭ coll￭ is also known as w￭ ry neck or lo￭ x￭ ia is a dy￭ st￭ onic condition defined by an abnormal asymmetrical head or neck position which may be due to a variety of causes the term tor￭ ti￭ coll￭ is is derived from the latin words tor￭ tus for twisted and coll￭ um for neck
sacro￭ ili￭ i￭ tis
in medicine sacro￭ ili￭ i￭ tis is an infl￭ amm￭ ation of the sacro￭ ili￭ ac joint sacro￭ ili￭ i￭ tis is a feature of spon￭ dy￭ lar￭ thro￭ path￭ ies such as an￭ ky￭ losing spon￭ dy￭ li￭ tis ps￭ ori￭ atic ar￭ thri￭ tis reactive ar￭ thri￭ tis or ar￭ thri￭ tis related to infl￭ am￭ matory bo￭ wel diseases including ul￭ cer￭ ative co￭ li￭ tis or cro￭ hn s disease it is also the most common presentation of ar￭ thri￭ tis from brucellosis
disci￭ tis
disci￭ tis or dis￭ ki￭ tis is an infection in the inter￭ vertebr￭ al dis￭ c space that affects different age groups in adults it can lead to severe consequences such as sep￭ sis or ep￭ id￭ ural abs￭ c￭ ess but can also spontaneously resolve especially in children under 8 years of age disci￭ tis occurs post sur￭ g￭ ically in approximately 1 2 percent of patients after spinal surgery
spon￭ dy￭ losis
spon￭ dy￭ losis from ancient greek σ￭ π￭ όν￭ δ￭ υ￭ λο￭ ς spó￭ n￭ dy￭ los a verte￭ bra in plural verte￭ bra￭ e – the backbone is a broad term meaning de￭ generation of the spinal column from any cause in the more narrow sense it refers to spinal o￭ ste￭ o￭ ar￭ thri￭ tis the age related wear and tear of the spinal column which is the most common cause of spon￭ dy￭ losis the degenerative process in o￭ ste￭ o￭ ar￭ thri￭ tis chiefly affects the vertebr￭ al bodies the ne￭ ural for￭ am￭ ina and the fac￭ et joints fac￭ et syndrome if severe it may cause pressure on nerve roots with subsequent sensory or motor disturbances such as pain pa￭ res￭ the￭ sia and muscle weakness in the limbs
spon￭ dy￭ losis from ancient greek σ￭ π￭ όν￭ δ￭ υ￭ λο￭ ς spó￭ n￭ dy￭ los a verte￭ bra in plural verte￭ bra￭ e – the backbone is a broad term meaning de￭ generation of the spinal column from any cause in the more narrow sense it refers to spinal o￭ ste￭ o￭ ar￭ thri￭ tis the age related wear and tear of the spinal column which is the most common cause of spon￭ dy￭ losis the degenerative process in o￭ ste￭ o￭ ar￭ thri￭ tis chiefly affects the vertebr￭ al bodies the ne￭ ural for￭ am￭ ina and the fac￭ et joints fac￭ et syndrome if severe it may cause pressure on nerve roots with subsequent sensory or motor disturbances such as pain pa￭ res￭ the￭ sia and muscle weakness in the limbs when the space between two adjacent verte￭ bra￭ e narro￭ ws compression of a nerve root emerging from the spinal cord may result in radic￭ ul￭ opathy sensory and motor disturbances such as severe pain in the neck shoulder arm back or leg accompanied by muscle weakness less commonly direct pressure on the spinal cord typically in the cer￭ vic￭ al sp￭ ine may result in my￭ el￭ opathy characterized by global weakness ga￭ it dysfunction loss of balance and loss of bo￭ wel or blad￭ der control the patient may experience shocks pa￭ res￭ the￭ sia in hands and legs because of nerve compression and lack of blood flow if verte￭ bra￭ e of the neck are involved it is labelled cer￭ vic￭ al spon￭ dy￭ losis lower back spon￭ dy￭ losis is labeled lum￭ bar spon￭ dy￭ losis
diffuse idi￭ opathic sk￭ el￭ etal hyper￭ o￭ sto￭ sis
diffuse idi￭ opathic sk￭ el￭ etal hyper￭ o￭ sto￭ sis dish is a non infl￭ am￭ matory spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy of the sp￭ ine it is characterized by spin￭ y an￭ ky￭ losis and en￭ thes￭ opathy os￭ sification of the lig￭ aments and en￭ theses it most commonly affects the thor￭ ac￭ ic and thor￭ aco lum￭ bar sp￭ ine but involvement is variable and can include the entire sp￭ ine the dis￭ c spaces fac￭ et and sacro￭ ili￭ ac joints remain unaffected diagnosis requires con￭ flu￭ ent os￭ sification of at least four con￭ ti￭ gu￭ ous vertebr￭ al bodies class￭ ically advanced disease may have melted candle wax appearance along the sp￭ ine on radio￭ graphic studies
diffuse idi￭ opathic sk￭ el￭ etal hyper￭ o￭ sto￭ sis dish is a non infl￭ am￭ matory spon￭ dy￭ lo￭ ar￭ thro￭ pa￭ thy of the sp￭ ine it is characterized by spin￭ y an￭ ky￭ losis and en￭ thes￭ opathy os￭ sification of the lig￭ aments and en￭ theses it most commonly affects the thor￭ ac￭ ic and thor￭ aco lum￭ bar sp￭ ine but involvement is variable and can include the entire sp￭ ine the dis￭ c spaces fac￭ et and sacro￭ ili￭ ac joints remain unaffected diagnosis requires con￭ flu￭ ent os￭ sification of at least four con￭ ti￭ gu￭ ous vertebr￭ al bodies class￭ ically advanced disease may have melted candle wax appearance along the sp￭ ine on radio￭ graphic studies the calci￭ fication and os￭ sification is most common on the right side of the sp￭ ine in people with d￭ ext￭ ro￭ car￭ dia and sit￭ us in￭ versus this calci￭ fication occurs on the left side which confirms the role of the descending thor￭ ac￭ ic a￭ or￭ ta in preventing the physical manifestations of dish on one side of the sp￭ ine
ba￭ astr￭ up s sign
ba￭ astr￭ up s sign or kissing sp￭ ine is an orth￭ o￭ ped￭ ic and radio￭ graphic disorder that often occurs in elderly humans it is characterized by enlargement of the poster￭ ior spin￭ ous projections of the lum￭ bar sp￭ ine with normal inter￭ vertebr￭ al dis￭ c height and neuro￭ for￭ am￭ ina the reason it is referred to as kissing sp￭ ine is because the poster￭ ior spin￭ ous processes kiss and touch one another as the individual goes into lum￭ bar extension for example when flat on their stomach the condition has been seen in humans can￭ ines particularly with box￭ er breeds and certain breeds of horses this disorder is named after christian ing￭ er￭ sle￭ v ba￭ astr￭ up
spinal dis￭ c her￭ ni￭ ation
spinal dis￭ c her￭ ni￭ ation also known as a slipped dis￭ c is a medical condition affecting the sp￭ ine in which a tear in the outer fi￭ bro￭ us ring of an inter￭ vertebr￭ al dis￭ c allows the soft central portion to bul￭ ge out beyond the damaged outer rings dis￭ c her￭ ni￭ ation is usually due to age related de￭ generation of the an￭ ul￭ us fi￭ bro￭ sus although trauma lifting injuries or str￭ aining have been implicated tears are almost always poster￭ o lateral in nature owing to the presence of the poster￭ ior longit￭ ud￭ inal lig￭ ament in the spinal canal this tear in the dis￭ c ring may result in the release of infl￭ am￭ matory chemical mediators which may directly cause severe pain even in the absence of nerve root compression
spinal dis￭ c her￭ ni￭ ation also known as a slipped dis￭ c is a medical condition affecting the sp￭ ine in which a tear in the outer fi￭ bro￭ us ring of an inter￭ vertebr￭ al dis￭ c allows the soft central portion to bul￭ ge out beyond the damaged outer rings dis￭ c her￭ ni￭ ation is usually due to age related de￭ generation of the an￭ ul￭ us fi￭ bro￭ sus although trauma lifting injuries or str￭ aining have been implicated tears are almost always poster￭ o lateral in nature owing to the presence of the poster￭ ior longit￭ ud￭ inal lig￭ ament in the spinal canal this tear in the dis￭ c ring may result in the release of infl￭ am￭ matory chemical mediators which may directly cause severe pain even in the absence of nerve root compression dis￭ c her￭ ni￭ ations are normally a further development of a previously existing dis￭ c pro￭ tru￭ sion a condition in which the outermost layers of the fi￭ bro￭ us ring are still intact but can bul￭ ge when the dis￭ c is under pressure in contrast to a her￭ ni￭ ation none of the central portion escapes beyond the outer layers most minor her￭ ni￭ ations heal within several weeks anti infl￭ am￭ matory treatments for pain associated with dis￭ c her￭ ni￭ ation pro￭ tru￭ sion bul￭ ge or dis￭ c tear are generally effective severe her￭ ni￭ ations may not heal of their own accord and may require surgery the condition is widely referred to as a slipped dis￭ c but this term is not medic￭ ally accurate as the spinal dis￭ cs are firmly attached between the verte￭ bra￭ e and cannot slip out of place
sch￭ mor￭ l s no￭ des
coc￭ cy￭ dy￭ nia
neutral sp￭ ine
a neutral sp￭ ine or good posture refers to the three natural cur￭ ves that are present in a healthy sp￭ ine looking directly at the front or back of the body the 33 verte￭ bra￭ e in the spinal column should appear completely vertical from a side view the cer￭ vic￭ al neck region of the sp￭ ine c 1 c 7 is bent inward the thor￭ ac￭ ic upper back region t 1 t 12 ben￭ ds outward and the lum￭ bar lower back region l 1 l 5 ben￭ ds inward the sac￭ rum tail￭ bone area s 1 s 5 f￭ used and coc￭ cy￭ x on average 4 f￭ used rest between the pel￭ vic bones a neutral pel￭ vis indicates the an￭ terior superior ili￭ ac sp￭ ines and pu￭ bic symp￭ h￭ ysis fall in the same vertical line
back pain
back pain is pain felt in the back episodes of back pain may be acute sub acute or chronic depending on the duration the pain may be characterized as a dull ache shooting or pier￭ cing pain or a burning sensation the pain may radi￭ ate into the arms and hands as well as the legs or feet and may include pa￭ res￭ the￭ sia ting￭ ling with no apparent cause weakness or num￭ b￭ ness in the legs and arms the an￭ atomic classification of back pain follows the segments of the sp￭ ine neck pain cer￭ vic￭ al middle back pain thor￭ ac￭ ic lower back pain lum￭ bar or coc￭ cy￭ dy￭ nia tail￭ bone or sac￭ ral pain with the lum￭ bar verte￭ bra￭ e area most common for pain
my￭ osi￭ tis
py￭ om￭ yo￭ si￭ tis
py￭ om￭ yo￭ si￭ tis also known as tropical py￭ om￭ yo￭ si￭ tis or my￭ osi￭ tis tro￭ pic￭ ans is a bacterial infection of the sk￭ el￭ etal muscles which results in a p￭ us filled abs￭ c￭ ess py￭ om￭ yo￭ si￭ tis is most common in tropical areas but can also occur in temper￭ ate zones
inclusion body my￭ osi￭ tis
inclusion body my￭ osi￭ tis ibm is an infl￭ am￭ matory muscle disease characterized by slowly progressive weakness and wasting of both dis￭ tal and proxim￭ al muscles most apparent in the muscles of the arms and legs there are two types spor￭ adic inclusion body my￭ osi￭ tis si￭ bm which is more common and hereditary inclusion body my￭ opathy hi￭ bm
fi￭ bro￭ dys￭ pl￭ asia os￭ si￭ fic￭ ans progres￭ si￭ va
fi￭ bro￭ dys￭ pl￭ asia os￭ si￭ fic￭ ans progres￭ si￭ va f￭ op is an extremely rare connec￭ tive tissue disease the disease is caused by a mutation of the body s repair mechanism which causes fi￭ bro￭ us tissue including muscle tend￭ on and lig￭ ament to be os￭ si￭ fied spontaneously or when damaged in many cases injuries can cause joints to become permanently frozen in place surgical removal of the extra bone grow￭ ths has been shown to cause the body to repair the affected area with even more bone
di￭ ast￭ asis rec￭ ti
di￭ ast￭ asis rec￭ ti also known as ab￭ domin￭ al separation is commonly defined as a gap of roughly 2 7 cm or greater between the two sides of the rec￭ tus ab￭ domin￭ is muscle this condition has no associated morbi￭ dity or mortality the distance between the right and left rec￭ tus ab￭ domin￭ is muscles is created by the stretching of the lin￭ ea alba a connec￭ tive coll￭ agen she￭ ath created by the ap￭ on￭ euro￭ sis inser￭ tions of the trans￭ verse ab￭ domin￭ is internal obli￭ que and external obli￭ que di￭ ast￭ asis of this muscle occurs principally in two populations new￭ bor￭ ns and pregnant women it is also known to occur in men
compartment syndrome
compartment syndrome is increased pressure within one of the body s compart￭ ments which contains muscles and nerves compartment syndrome most commonly occurs in compart￭ ments in the leg or arm there are two main types of compartment syndrome acute and chronic
compartment syndrome is increased pressure within one of the body s compart￭ ments which contains muscles and nerves compartment syndrome most commonly occurs in compart￭ ments in the leg or arm there are two main types of compartment syndrome acute and chronic acute compartment syndrome occurs after a traumatic injury such as a car crash the trauma causes a severe high pressure in the compartment which results in insufficient blood supply to muscles and nerves acute compartment syndrome is a medical emergency that requires surgery to correct if untreated the lack of blood supply leads to permanent muscle and nerve damage and can result in the loss of function of the limb chronic exer￭ tional compartment syndrome is an exercise induced condition in which the pressure in the muscles increases to extreme levels during exercise the pressure creates a decrease in blood flow to the affected area which leads to a deprivation of oxygen to the muscles the symptoms are a sensation of extreme ti￭ ght￭ ness in the affected muscles followed by a burning sensation if exercise is continued chronic exer￭ tional compartment syndrome usually occurs in athletes who participate in repeti￭ tive impact sports such as running
muscle atro￭ phy
muscle atro￭ phy is defined as a decrease in the mass of the muscle it can be a partial or complete wasting away of muscle and is most commonly experienced when persons suffer temporary disab￭ ling circumstances such as being restricted in movement and or confined to bed as when hosp￭ itali￭ zed when a muscle atro￭ ph￭ ies this leads to muscle weakness since the ability to exert force is related to mass modern medicine s understanding of the quick onset of muscle atro￭ phy is a major factor behind the practice of getting hosp￭ itali￭ zed patients out of bed and moving about as active as possible as soon as is feasible despite su￭ tures wounds broken bones and pain
muscle atro￭ phy is defined as a decrease in the mass of the muscle it can be a partial or complete wasting away of muscle and is most commonly experienced when persons suffer temporary disab￭ ling circumstances such as being restricted in movement and or confined to bed as when hosp￭ itali￭ zed when a muscle atro￭ ph￭ ies this leads to muscle weakness since the ability to exert force is related to mass modern medicine s understanding of the quick onset of muscle atro￭ phy is a major factor behind the practice of getting hosp￭ itali￭ zed patients out of bed and moving about as active as possible as soon as is feasible despite su￭ tures wounds broken bones and pain muscle atro￭ phy results from a co morbi￭ dity of several common diseases including cancer aids cong￭ estive heart failure cop￭ d chronic obstruc￭ tive pul￭ mon￭ ary disease ren￭ al failure and severe burns patients who have c￭ ach￭ ex￭ ia in these disease settings have a poor prog￭ no￭ sis moreover starvation eventually leads to muscle atro￭ phy dis￭ use of the muscles such as when muscle tissue is im￭ mobilized for even a few days of un￭ use – when the patient has a primary injury such as an im￭ mobilized broken bone set in a cast or im￭ mobilized in traction for example – will also lead rapidly to dis￭ use atro￭ phy minim￭ izing such occurrences as soon as possible is a primary mission of occupational and physical therap￭ ists employed within hospitals working in co ordination with orth￭ o￭ ped￭ ic surgeons neuro￭ genic atro￭ phy which has a similar effect is muscle atro￭ phy resulting from damage to the nerve which stimulates the muscle causing a shri￭ vel￭ ing around otherwise healthy limbs also time in a cir￭ ca zero g environment without exercise will lead to atro￭ phy this is partially due to the smaller amount of exer￭ tion needed to move about and the fact that muscles are not used to maintain posture in a similar effect patients with a broken leg joint undergoing as little as three weeks of traction can lose enough back and but￭ toc￭ ks muscle mass and strength as to have difficulty sitting without assistance and experience pain stress and burning even after a very short ten minute exposure when such positioning is con￭ tri￭ ved during recovery
strain injury
this is about an injury of a muscle for a novel see the strain for other uses see strain dis￭ ambigu￭ ation a strain is an injury to a muscle in which the muscle fi￭ bers tear as a result of over￭ stretching a strain is also col￭ lo￭ qu￭ ially known as a pulled muscle or torn muscle the equivalent injury to a lig￭ ament is a sp￭ rain
char￭ ley horse
char￭ ley horse is a popular col￭ lo￭ qu￭ ial term in canada and the united states for painful involuntary sp￭ as￭ ms or cram￭ ps in the leg muscles typically lasting anywhere from a few seconds to about a day it is less likely to refer to a bru￭ ise on an arm or leg and a bru￭ ising of the quad￭ ric￭ eps muscle of the an￭ terior or lateral thi￭ gh or con￭ tu￭ sion of the fem￭ ur that commonly results in a ha￭ em￭ atom￭ a and sometimes several weeks of pain and disability in this latter sense such an injury is known as dead leg in australia it is also known as a cor￭ ked thi￭ gh or cor￭ ky it often occurs in contact sports such as football when an athlete suffers a knee blunt trauma to the lateral quad￭ ric￭ eps causing a ha￭ em￭ atom￭ a or temporary pa￭ res￭ is and an￭ tal￭ gic ga￭ it as a result of pain another term jolly horse is used
char￭ ley horse is a popular col￭ lo￭ qu￭ ial term in canada and the united states for painful involuntary sp￭ as￭ ms or cram￭ ps in the leg muscles typically lasting anywhere from a few seconds to about a day it is less likely to refer to a bru￭ ise on an arm or leg and a bru￭ ising of the quad￭ ric￭ eps muscle of the an￭ terior or lateral thi￭ gh or con￭ tu￭ sion of the fem￭ ur that commonly results in a ha￭ em￭ atom￭ a and sometimes several weeks of pain and disability in this latter sense such an injury is known as dead leg in australia it is also known as a cor￭ ked thi￭ gh or cor￭ ky it often occurs in contact sports such as football when an athlete suffers a knee blunt trauma to the lateral quad￭ ric￭ eps causing a ha￭ em￭ atom￭ a or temporary pa￭ res￭ is and an￭ tal￭ gic ga￭ it as a result of pain another term jolly horse is used to describe simple painful muscle cram￭ ps in the leg or foot especially those that follow stren￭ uous exercise the term can also be used to refer to cram￭ ps in the foot muscles these muscle cram￭ ps can have many possible causes directly resulting from high or low ph or sub￭ str￭ ate concentrations in the blood including hormonal imbalances dehydr￭ ation low levels of magnesium potassium or calcium although the evidence has been mixed side effects of medication or more seriously diseases such as am￭ yo￭ troph￭ ic lateral sclerosis and neuro￭ pa￭ thy they are also a common complaint during pregnancy
r￭ hab￭ dom￭ y￭ ol￭ ysis
r￭ hab￭ dom￭ y￭ ol￭ ysis is a condition in which damaged sk￭ el￭ etal muscle breaks down rapidly symptoms may include muscle pains weakness v￭ om￭ iting and confusion there may be tea colored urine or an irregular heartbeat some of breakdown products such as the protein my￭ o￭ glob￭ in are harmful to the kidneys and may lead to kidney failure
sy￭ no￭ vi￭ tis
sy￭ no￭ vi￭ tis is the medical term for infl￭ amm￭ ation of the sy￭ no￭ vi￭ al memb￭ rane this memb￭ rane lines joints which possess ca￭ vities known as sy￭ no￭ vi￭ al joints the condition is usually painful particularly when the joint is moved the joint usually sw￭ ells due to sy￭ no￭ vi￭ al fluid collection
calci￭ fic tend￭ initi￭ s
trigger finger
transi￭ ent sy￭ no￭ vi￭ tis
transi￭ ent sy￭ no￭ vi￭ tis of the hip also called toxic sy￭ no￭ vi￭ tis see below for more synon￭ y￭ ms is a self limiting condition in which there is an infl￭ amm￭ ation of the inner lining the sy￭ no￭ vi￭ um of the cap￭ su￭ le of the hip joint the term irrit￭ able hip refers to the syndrome of acute hip pain joint sti￭ ff￭ ness lim￭ p or non wei￭ ght￭ bearing indicative of an underlying condition such as transi￭ ent sy￭ no￭ vi￭ tis or orth￭ o￭ ped￭ ic infections like se￭ ptic ar￭ thri￭ tis or o￭ ste￭ om￭ ye￭ li￭ tis in everyday clinical practice however irrit￭ able hip is commonly used as a synon￭ ym for transi￭ ent sy￭ no￭ vi￭ tis it should not be confused with sci￭ atica a condition describing hip and lower back pain much more common to adults than transi￭ ent sy￭ no￭ vi￭ tis but with similar signs and symptoms
gang￭ lion cyst
a gang￭ lion cyst is a soft tissue lump that may occur in any joint but most often occurs on around or near joints and tend￭ ons in the hands or feet these cy￭ sts are caused by leakage of fluid from the joint into the surrounding tissue
tend￭ in￭ osis
repeti￭ tive strain injury
repeti￭ tive strain injury r￭ si and associ￭ ative trauma orders are umbrella terms used to refer to several dis￭ crete conditions that can be associated with repeti￭ tive tasks forceful exer￭ tions vibrations mechanical compression or sustained awkward positions examples of conditions that may sometimes be attributed to such causes include e￭ dem￭ a tend￭ in￭ osis or less often tend￭ initi￭ s car￭ pal tunnel syndrome cub￭ ital tunnel syndrome de quer￭ vain syndrome thor￭ ac￭ ic outlet syndrome inter￭ section syndrome gol￭ fer s el￭ bow medi￭ al epi￭ con￭ dy￭ li￭ tis tennis el￭ bow lateral epi￭ con￭ dy￭ li￭ tis trigger finger so called sten￭ o￭ sing ten￭ o￭ sy￭ no￭ vi￭ tis rad￭ ial tunnel syndrome and focal dy￭ st￭ onia
repeti￭ tive strain injury r￭ si and associ￭ ative trauma orders are umbrella terms used to refer to several dis￭ crete conditions that can be associated with repeti￭ tive tasks forceful exer￭ tions vibrations mechanical compression or sustained awkward positions examples of conditions that may sometimes be attributed to such causes include e￭ dem￭ a tend￭ in￭ osis or less often tend￭ initi￭ s car￭ pal tunnel syndrome cub￭ ital tunnel syndrome de quer￭ vain syndrome thor￭ ac￭ ic outlet syndrome inter￭ section syndrome gol￭ fer s el￭ bow medi￭ al epi￭ con￭ dy￭ li￭ tis tennis el￭ bow lateral epi￭ con￭ dy￭ li￭ tis trigger finger so called sten￭ o￭ sing ten￭ o￭ sy￭ no￭ vi￭ tis rad￭ ial tunnel syndrome and focal dy￭ st￭ onia since the 1970 s there has been a worldwide increase in r￭ sis of the arms hands neck and shoulder attributed to the widespread use of type￭ writers computers in the workplace that require long periods of repeti￭ tive motions in a fixed posture
bur￭ si￭ tis
bur￭ si￭ tis is the infl￭ amm￭ ation of one or more bur￭ sa￭ e small sac￭ s of sy￭ no￭ vi￭ al fluid in the body they are lined with a sy￭ no￭ vi￭ al memb￭ rane that secre￭ tes a lubric￭ ating sy￭ no￭ vi￭ al fluid there are more than 150 bur￭ sa￭ e in the human body the bur￭ sa￭ e rest at the points where internal func￭ tion￭ aries such as muscles and tend￭ ons slide across bone healthy bur￭ sa￭ e create a smooth almost fric￭ tion￭ less functional gli￭ ding surface making normal movement pain￭ less when bur￭ si￭ tis occurs however movement relying on the infl￭ amed bur￭ sa becomes difficult and painful moreover movement of tend￭ ons and muscles over the infl￭ amed bur￭ sa aggrav￭ ates its infl￭ amm￭ ation perpetuating the problem muscle can also be sti￭ ff￭ ened
baker s cyst
du￭ pu￭ y￭ tre￭ n s contrac￭ ture
du￭ pu￭ y￭ tre￭ n s contrac￭ ture also known as du￭ pu￭ y￭ tre￭ n s disease or by the s￭ lang term vi￭ king disease is a fl￭ ex￭ ion contrac￭ ture of the hand due to a pal￭ mar fi￭ bro￭ mat￭ osis in which the fingers bend towards the palm and cannot be fully extended strai￭ ghtened it is an inherited prolifer￭ ative connec￭ tive tissue disorder that involves the hand s pal￭ mar fas￭ cia it is named after baron guill￭ au￭ me du￭ pu￭ y￭ tre￭ n the surgeon who described an operation to correct the afflic￭ tion
plan￭ tar fas￭ ci￭ i￭ tis
plan￭ tar fas￭ ci￭ i￭ tis is a disorder that results in pain in the heel and bottom of the foot the pain is usually most severe with the first steps of the day or following a period of rest pain is also frequently brought on by b￭ ending the foot and toes up towards the shin and may be worsened by a tight achilles tend￭ on the condition typically comes on slowly in about a third of people both legs are affected typically there are no fe￭ vers or night swe￭ ats
plan￭ tar fas￭ ci￭ i￭ tis is a disorder that results in pain in the heel and bottom of the foot the pain is usually most severe with the first steps of the day or following a period of rest pain is also frequently brought on by b￭ ending the foot and toes up towards the shin and may be worsened by a tight achilles tend￭ on the condition typically comes on slowly in about a third of people both legs are affected typically there are no fe￭ vers or night swe￭ ats the causes of plan￭ tar fas￭ ci￭ i￭ tis are not entirely clear risk factors include over￭ use such as from long periods of standing an increase in exercise and obesity it is also associated with inward rolling of the foot and a lifestyle that involves little exercise while heel sp￭ urs are frequently found it is unclear if they have a role in causing the condition plan￭ tar fas￭ ci￭ i￭ tis is a disorder of the insertion site of the lig￭ ament on the bone characterized by micro tears breakdown of coll￭ agen and scar￭ ring as infl￭ amm￭ ation plays a lesser role many feel the condition should be ren￭ amed plan￭ tar fas￭ ci￭ osis the diagnosis is typically based on signs and symptoms with ul￭ tras￭ ound sometimes used to help other conditions with similar symptoms include o￭ ste￭ o￭ ar￭ thri￭ tis an￭ ky￭ losing spon￭ dy￭ li￭ tis heel pad syndrome and reactive ar￭ thri￭ tis most cases of plan￭ tar fas￭ ci￭ i￭ tis resolve with time and conservative methods of treatment usually for the first few weeks people are advised to rest change their activities take pain medications and stretch if this is not sufficient physi￭ otherapy orth￭ o￭ tics spl￭ in￭ ting or ster￭ o￭ id injections may be options if other measures do not work ex￭ trac￭ or￭ po￭ real shoc￭ k￭ wave therapy or surgery may be tried between 4 and 7 of people have heel pain at any given time and about 80 of these cases are due to plan￭ tar fas￭ ci￭ i￭ tis approximately 10 of people have the disorder at some point during their life it becomes more common with age it is unclear if one sex is more affected than the other
plan￭ tar fi￭ bro￭ mat￭ osis
plan￭ tar fas￭ cial fi￭ bro￭ mat￭ osis also known as led￭ der￭ hose s disease mor￭ bus led￭ der￭ hose and plan￭ tar fi￭ bro￭ mat￭ osis is a relatively un￭ common non m￭ align￭ ant thick￭ ening of the feet s deep connec￭ tive tissue or fas￭ cia in the beginning where no￭ d￭ ules or cords start growing along tend￭ ons of the foot the disease is minor eventually however the cords thick￭ en the toes sti￭ ff￭ en and bend and walking becomes painful the disease is named after dr georg led￭ der￭ hose a german surgeon who described the condition for the first time in 18￭ 94 a similar disease is du￭ pu￭ y￭ tre￭ n s disease which affects the hand and causes bent hand or fingers
plan￭ tar fas￭ cial fi￭ bro￭ mat￭ osis also known as led￭ der￭ hose s disease mor￭ bus led￭ der￭ hose and plan￭ tar fi￭ bro￭ mat￭ osis is a relatively un￭ common non m￭ align￭ ant thick￭ ening of the feet s deep connec￭ tive tissue or fas￭ cia in the beginning where no￭ d￭ ules or cords start growing along tend￭ ons of the foot the disease is minor eventually however the cords thick￭ en the toes sti￭ ff￭ en and bend and walking becomes painful the disease is named after dr georg led￭ der￭ hose a german surgeon who described the condition for the first time in 18￭ 94 a similar disease is du￭ pu￭ y￭ tre￭ n s disease which affects the hand and causes bent hand or fingers as in most forms of fi￭ bro￭ mat￭ osis it is usually benign and its onset varies with each patient the no￭ d￭ ules are typically slow growing and most often found in the central and medi￭ al portions of the plan￭ tar fas￭ cia occasionally the no￭ d￭ ules may lie dormant for months to years only to begin rapid and unexpected growth options for intervention include radiation therapy cry￭ o￭ surgery xi￭ af￭ lex surgical removal only if discomfort hinders walking
no￭ d￭ ular fas￭ ci￭ i￭ tis
no￭ d￭ ular fas￭ ci￭ i￭ tis also known as no￭ d￭ ular pseu￭ do￭ sar￭ com￭ at￭ ous fas￭ ci￭ its pseu￭ do￭ sar￭ com￭ at￭ ous fas￭ ci￭ i￭ tis and sub￭ cu￭ taneous pseu￭ do￭ sar￭ com￭ at￭ ous fi￭ bro￭ mat￭ osis is a benign soft tissue le￭ sion most commonly found in the superficial fas￭ cia the le￭ sion commonly occurs in the first three decades of life upper extre￭ mi￭ ties and trunk are the most common affected anatom￭ ical sites previous history of trauma may be present clin￭ ically and his￭ to￭ logically no￭ d￭ ular fas￭ ci￭ i￭ tis may be mistaken for a sar￭ coma
necro￭ tizing fas￭ ci￭ i￭ tis
necro￭ tising fas￭ ci￭ i￭ tis n￭ f commonly known as flesh eating disease is an infection that results in the death of the body s soft tissue it is a severe disease of sudden onset that spreads rapidly symptoms include red or purple skin in the affected area severe pain fever and v￭ om￭ iting the most commonly affected areas are the limbs and per￭ in￭ eu￭ m
necro￭ tising fas￭ ci￭ i￭ tis n￭ f commonly known as flesh eating disease is an infection that results in the death of the body s soft tissue it is a severe disease of sudden onset that spreads rapidly symptoms include red or purple skin in the affected area severe pain fever and v￭ om￭ iting the most commonly affected areas are the limbs and per￭ in￭ eu￭ m typically the infection enters the body through a break in the skin such as a cut or burn risk factors include poor immune function such as from diabetes or cancer obesity alcoholism intra￭ ven￭ ous drug use and peripheral vascular disease it is not typically spread between people the disease is classified into four types depending on the inf￭ ecting organism between 55 80 of cases involve more than one type of bacteria meth￭ ic￭ ill￭ in resistant stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us mr￭ sa is involved in up to a third of cases medical imaging is helpful to confirm the diagnosis prevention is by good wound care and hand￭ washing it is usually treated with surgery to remove the infected tissue and intra￭ ven￭ ous antibiotics often a combination of antibiotics are used such as pen￭ ic￭ ill￭ in g clin￭ dam￭ y￭ cin van￭ com￭ y￭ cin and gent￭ am￭ ic￭ in delays in surgery are associated with a higher risk of death despite high quality treatment the risk of death is between 25 and 35 necro￭ tizing fas￭ ci￭ i￭ tis affects 0 4 to 1 person per 100 000 per year both sexes are affected equally it becomes more common among older people and is very rare in children necro￭ tizing fas￭ ci￭ i￭ tis has been described at least since the time of hippo￭ crates the term necro￭ tising fas￭ ci￭ i￭ tis first came into use in 1952
fi￭ bro￭ mat￭ osis
the term fi￭ bro￭ mat￭ osis refers to a group of benign soft tissue tumors which have certain characteristics in common including absence of cy￭ to￭ logic and clinical m￭ align￭ ant features a his￭ to￭ logy consistent with proliferation of well differentiated fi￭ bro￭ bl￭ asts an infiltr￭ ative growth pattern and aggressive clinical behavior with frequent local recurrence
adhe￭ sive cap￭ su￭ li￭ tis of shoulder
adhe￭ sive cap￭ su￭ li￭ tis also known as frozen shoulder is a painful and disab￭ ling disorder of unclear cause in which the shoulder cap￭ su￭ le the connec￭ tive tissue surrounding the glen￭ o￭ hum￭ eral joint of the shoulder becomes infl￭ amed and stiff greatly restricting motion and causing chronic pain pain is usually constant worse at night and with cold weather certain movements or bu￭ mps can provoke episodes of tremendous pain and cram￭ ping the condition is thought to be caused by injury or trauma to the area and may have an auto￭ immune component
rot￭ ator cuff tear
a rot￭ ator cuff tear is a tear of one or more of the tend￭ ons of the four rot￭ ator cuff muscles of the shoulder a rot￭ ator cuff injury can include any type of irritation or over￭ use of those muscles or tend￭ ons and is among the most common conditions affecting the shoulder the tend￭ ons of the rot￭ ator cuff not the muscles are most commonly involved and of the four the supr￭ asp￭ in￭ atus is most frequently affected as it passes below the acro￭ m￭ ion such a tear usually occurs at its point of insertion onto the hum￭ eral head at the greater tuber￭ cle
imp￭ ing￭ ement syndrome
sub￭ acro￭ mi￭ al bur￭ si￭ tis
en￭ thes￭ opathy
in medicine an en￭ thes￭ opathy refers to a disorder involving the attachment of a tend￭ on or lig￭ ament to a bone this site of attachment is known as the en￭ theses if the condition is known to be infl￭ am￭ matory it can more precisely be called an en￭ the￭ si￭ tis
sn￭ apping hip syndrome
sn￭ apping hip syndrome also referred to as co￭ xa sal￭ t￭ ans ili￭ op￭ so￭ as tend￭ initi￭ s or dancer s hip is a medical condition characterized by a sn￭ apping sensation felt when the hip is fl￭ ex￭ ed and extended this may be accompanied by an audible sn￭ apping or po￭ pping noise and pain or discomfort pain often decreases with rest and diminished activity sn￭ apping hip syndrome is classified by location of the sn￭ apping either extra artic￭ ular or intra artic￭ ular
ili￭ o￭ ti￭ bial band syndrome
ili￭ o￭ ti￭ bial band syndrome it￭ bs or it￭ b￭ fs for ili￭ o￭ ti￭ bial band friction syndrome is a common injury to the knee generally associated with running cycling hi￭ king or weight lifting especially squ￭ ats
pat￭ ell￭ ar tend￭ initi￭ s
tennis el￭ bow
tennis el￭ bow or lateral epi￭ con￭ dy￭ li￭ tis is a condition in which the outer part of the el￭ bow becomes sore and tender the fore￭ arm muscles and tend￭ ons become damaged from over￭ use — repeating the same stren￭ uous motions again and again this leads to pain and tender￭ ness on the outside of the el￭ bow
tennis el￭ bow or lateral epi￭ con￭ dy￭ li￭ tis is a condition in which the outer part of the el￭ bow becomes sore and tender the fore￭ arm muscles and tend￭ ons become damaged from over￭ use — repeating the same stren￭ uous motions again and again this leads to pain and tender￭ ness on the outside of the el￭ bow any activity including playing tennis which involves the repeti￭ tive use of the ext￭ ens￭ or muscles of the fore￭ arm can cause acute or chronic tend￭ oni￭ tis of the tend￭ inous insertion of these muscles at the lateral epi￭ con￭ dy￭ le of the el￭ bow the condition is common in car￭ pen￭ ters and labor￭ ers who swing a hammer or other tool with the fore￭ arm continuing activity after onset of the condition and avoiding mandatory rest may lead to permanent onset of pain and only treat￭ able via surgery dr f run￭ ge a german physician is usually credited for the first description of the condition in 18￭ 73 he called it writer s cr￭ amp schrei￭ be￭ kr￭ amp￭ f later it was called washer women s el￭ bow as it also occurred in tennis it soon was called tennis el￭ bow after british surgeon henry morris published an article in the lan￭ cet describing “ the lawn tennis arm ” 1883 the term tennis el￭ bow first appeared in an 1883 paper by h p major as lawn tennis el￭ bow
cal￭ can￭ e￭ al spur
a cal￭ can￭ e￭ al spur or heel spur is a small o￭ ste￭ op￭ hy￭ te bone spur located on the cal￭ can￭ eus heel bone cal￭ can￭ e￭ al sp￭ urs are typically detected by a radiological examination x ray when a foot bone is exposed to constant stress calcium deposits build up on the bottom of the heel bone generally this has no effect on a person s daily life however repeated damage can cause these deposits to pile up on each other causing a spur shaped de￭ form￭ ity called a cal￭ can￭ e￭ al or heel spur ob￭ ese people flat￭ fo￭ oted people and people who often wear high he￭ eled shoes are most susceptible to heel sp￭ urs
met￭ at￭ ar￭ sal￭ gia
met￭ at￭ ar￭ sal￭ gia literally met￭ at￭ ar￭ sal pain and col￭ lo￭ qu￭ ially known as a stone bru￭ ise is a general term used to refer to any painful foot condition affecting the met￭ at￭ ar￭ sal region of the foot this is a common problem that can affect the joints and bones of the met￭ at￭ ar￭ s￭ als
met￭ at￭ ar￭ sal￭ gia literally met￭ at￭ ar￭ sal pain and col￭ lo￭ qu￭ ially known as a stone bru￭ ise is a general term used to refer to any painful foot condition affecting the met￭ at￭ ar￭ sal region of the foot this is a common problem that can affect the joints and bones of the met￭ at￭ ar￭ s￭ als met￭ at￭ ar￭ sal￭ gia is most often loc￭ alized to the first met￭ at￭ ar￭ sal head – the ball of the foot just behind the big toe there are two small ses￭ am￭ o￭ id bones under the first met￭ at￭ ar￭ sal head the next most frequent site of met￭ at￭ ar￭ sal head pain is under the second met￭ at￭ ar￭ sal this can be due to either too short a first met￭ at￭ ar￭ sal bone or to hyper￭ mobility of the first ray – met￭ at￭ ar￭ sal bone and medi￭ al cun￭ ei￭ form bone behind it – both of which result in excess pressure being transmitted into the second met￭ at￭ ar￭ sal head
tend￭ initi￭ s
tend￭ initi￭ s also tend￭ oni￭ tis meaning infl￭ amm￭ ation of a tend￭ on is a type of tend￭ in￭ opathy often confused with the more common tend￭ in￭ osis which has similar symptoms but requires different treatment the suff￭ ix i￭ tis den￭ o￭ tes diseases characterized by infl￭ amm￭ ation the term tend￭ initi￭ s should be reserved for tend￭ on injuries that involve larger scale acute injuries accompanied by infl￭ amm￭ ation generally tend￭ initi￭ s is referred to by the body part involved such as achilles tend￭ initi￭ s affecting the achilles tend￭ on or pat￭ ell￭ ar tend￭ initi￭ s jum￭ per s knee affecting the pat￭ ell￭ ar tend￭ on
r￭ heu￭ m￭ atism
r￭ heu￭ m￭ atism or r￭ heu￭ matic disorder is an umbrella term for conditions causing chronic often inter￭ mit￭ tent pain affecting the joints and or connec￭ tive tissue the study of and therapeutic interventions in such disorders is called r￭ heu￭ mat￭ ology the term r￭ heu￭ m￭ atism however does not designate any specific disorder but covers at least 200 different conditions
r￭ heu￭ m￭ atism or r￭ heu￭ matic disorder is an umbrella term for conditions causing chronic often inter￭ mit￭ tent pain affecting the joints and or connec￭ tive tissue the study of and therapeutic interventions in such disorders is called r￭ heu￭ mat￭ ology the term r￭ heu￭ m￭ atism however does not designate any specific disorder but covers at least 200 different conditions sources dealing with r￭ heu￭ m￭ atism tend to focus on ar￭ thri￭ tis but r￭ heu￭ m￭ atism may also refer to other conditions causing chronic pain grouped as non artic￭ ular r￭ heu￭ m￭ atism also known as regional pain syndrome or soft tissue r￭ heu￭ m￭ atism the term r￭ heu￭ matic diseases is used in mesh to refer to connec￭ tive tissue disorders
my￭ of￭ as￭ cial pain syndrome
my￭ of￭ as￭ cial pain syndrome mps also known as chronic my￭ of￭ as￭ cial pain c￭ mp is a syndrome characterized by chronic pain in multiple my￭ of￭ as￭ cial trigger points kno￭ ts and fas￭ cial connec￭ tive tissue con￭ stric￭ tions it can appear in any body part characteristic features of a my￭ of￭ as￭ cial trigger points include focal point tender￭ ness reproduction of pain upon trigger point pal￭ p￭ ation hard￭ ening of the muscle upon trigger point pal￭ p￭ ation pseudo weakness of the involved muscle referred pain and limited range of motion following approximately 5 seconds of sustained trigger point pressure
ne￭ ur￭ al￭ gia
ne￭ ur￭ al￭ gia greek ne￭ uron nerve al￭ gos pain is pain in the distribution of a nerve or nerves as in inter￭ cost￭ al ne￭ ur￭ al￭ gia tri￭ gem￭ inal ne￭ ur￭ al￭ gia and glos￭ sop￭ har￭ yn￭ ge￭ al ne￭ ur￭ al￭ gia
pann￭ ic￭ u￭ li￭ tis
fi￭ bro￭ my￭ al￭ gia
fi￭ bro￭ my￭ al￭ gia f￭ m is a medical condition characterised by chronic widespread pain and a heightened pain response to pressure other symptoms include feeling tired to a degree that normal activities are affected sleep problems and troubles with memory some people also report rest￭ less legs syndrome bo￭ wel or blad￭ der problems num￭ b￭ ness and ting￭ ling and sensitivity to noise lights or temperature fi￭ bro￭ my￭ al￭ gia is frequently associated with depression anxiety and post￭ traumatic stress disorder other types of chronic pain are also frequently present
fi￭ bro￭ my￭ al￭ gia f￭ m is a medical condition characterised by chronic widespread pain and a heightened pain response to pressure other symptoms include feeling tired to a degree that normal activities are affected sleep problems and troubles with memory some people also report rest￭ less legs syndrome bo￭ wel or blad￭ der problems num￭ b￭ ness and ting￭ ling and sensitivity to noise lights or temperature fi￭ bro￭ my￭ al￭ gia is frequently associated with depression anxiety and post￭ traumatic stress disorder other types of chronic pain are also frequently present the cause of fi￭ bro￭ my￭ al￭ gia is unknown but believed to involve a combination of genetic and environmental factors with half the risk attributed to each the condition runs in families and many genes are believed to be involved environmental factors may include psychological stress trauma and certain infections the pain appears to result from processes in the central nervous system and the condition is referred to as a central sensi￭ tization syndrome fi￭ bro￭ my￭ al￭ gia is recognized as a disorder by the us national institutes of health and the american college of r￭ heu￭ mat￭ ology there is no specific diagnostic test diagnosis involves first ruling out other potential causes and verifying that a set number of symptoms are present the treatment of fi￭ bro￭ my￭ al￭ gia can be difficult recommendations often include getting enough sleep exercising regularly and eating a healthy diet cognitive behavioral therapy may also be helpful the medications dul￭ ox￭ et￭ ine mil￭ n￭ aci￭ pr￭ an or preg￭ ab￭ al￭ in may be used use of op￭ io￭ id pain medication is controversial with some stating their use is poorly supported by evidence and others saying that weak op￭ io￭ ids may be reasonable if other medications are not effective dietary supplements also lack evidence to support their use while fi￭ bro￭ my￭ al￭ gia can last a long time it does not result in death or tissue damage fi￭ bro￭ my￭ al￭ gia is estimated to affect 2 – 8 of the population females are affected about twice as often as males rates appear similar in different areas of the world and among different cultures fi￭ bro￭ my￭ al￭ gia was first defined in 1990 with updated criteria in 2011 there is controversy about the classification diagnosis and treatment of fi￭ bro￭ my￭ al￭ gia while some feel the diagnosis of fi￭ bro￭ my￭ al￭ gia may negatively affect a person other research finds it to be beneficial the term fi￭ bro￭ my￭ al￭ gia is from new latin fi￭ bro meaning fi￭ bro￭ us tissues greek μ￭ υ￭ ώ my￭ o muscle and greek ά￭ λ￭ γ￭ ος al￭ gos pain thus the term literally means muscle and connec￭ tive tissue pain
hem￭ atom￭ a
a hem￭ atom￭ a is a loc￭ alized collection of blood outside the blood vessels usually in liquid form within the tissue an ec￭ ch￭ y￭ mo￭ sis commonly although errone￭ ously called a bru￭ ise is a hem￭ atom￭ a of the skin larger than 10 mm it is not to be confused with hem￭ an￭ gi￭ oma which is an abnormal buil￭ dup of blood vessels in the skin or internal organs
o￭ ste￭ op￭ or￭ osis
o￭ ste￭ op￭ or￭ osis is a disease where decreased bone strength increases the risk of a broken bone it is the most common reason for a broken bone among the elderly bones that commonly break include the back bones the bones of the fore￭ arm and the hip until a broken bone occurs there are typically no symptoms bones may weaken to such a degree that a break may occur with minor stress or spontaneously chronic pain and a decreased ability to carry out normal activities may occur following a broken bone
o￭ ste￭ op￭ or￭ osis is a disease where decreased bone strength increases the risk of a broken bone it is the most common reason for a broken bone among the elderly bones that commonly break include the back bones the bones of the fore￭ arm and the hip until a broken bone occurs there are typically no symptoms bones may weaken to such a degree that a break may occur with minor stress or spontaneously chronic pain and a decreased ability to carry out normal activities may occur following a broken bone o￭ ste￭ op￭ or￭ osis may be due to lower than normal peak bone mass and greater than normal bone loss bone loss increases after men￭ op￭ ause due to lower levels of estro￭ gen o￭ ste￭ op￭ or￭ osis may also occur due to a number of diseases or treatments including alcoholism an￭ ore￭ x￭ ia hyper￭ thyro￭ i￭ dis￭ m surgical removal of the ov￭ aries and kidney disease certain medications increase the rate of bone loss including some anti￭ seizure medications chem￭ otherapy prot￭ on pump inhi￭ bit￭ ors selective sero￭ ton￭ in re￭ uptake inhi￭ bit￭ ors and ster￭ oids not enough exercise and smoking are also risk factors o￭ ste￭ op￭ or￭ osis is defined as a bone density of 2 5 standard deviations below that of a young adult this is typically measured by dual energy x ray absor￭ p￭ ti￭ ome￭ try at the hip prevention of o￭ ste￭ op￭ or￭ osis includes a proper diet during childhood and efforts to avoid medications that cause the condition efforts to prevent broken bones in those with o￭ ste￭ op￭ or￭ osis include a good diet exercise and fall prevention lifestyle changes such as stopping smoking and not drinking alcohol may help medication of the bis￭ phosp￭ hon￭ ate type are useful in those with previous broken bones due to o￭ ste￭ op￭ or￭ osis in those with o￭ ste￭ op￭ or￭ osis but no previous broken bones they are less effective a number of other medications may also be useful o￭ ste￭ op￭ or￭ osis becomes more common with age about 15 of white people in their 50 s and 70 of those over 80 are affected it is more common in women than men in the developed world depending on the method of diagnosis 2 to 8 of males and 9 to 38 of females are affected rates of disease in the developing world are unclear about 22 million women and 5 5 million men in the european union had o￭ ste￭ op￭ or￭ osis in 2010 in the united states in 2010 about eight million women and one to two million men had o￭ ste￭ op￭ or￭ osis white and asian people are at greater risk the word o￭ ste￭ op￭ or￭ osis is from the greek terms for por￭ ous bones
o￭ ste￭ om￭ al￭ ac￭ ia
o￭ ste￭ om￭ al￭ ac￭ ia is the sof￭ tening of the bones caused by impaired bone metabol￭ ism primarily due to inadequate levels of available phosphate calcium and vitamin d or because of resor￭ ption of calcium the impairment of bone metabol￭ ism causes inadequate bone remin￭ er￭ alization o￭ ste￭ om￭ al￭ ac￭ ia in children is known as ric￭ kets and because of this use of the term o￭ ste￭ om￭ al￭ ac￭ ia is often restricted to the mil￭ der adult form of the disease signs and symptoms can include diffuse body pains muscle weakness and fragility of the bones
pseu￭ dar￭ thro￭ sis
pseu￭ dar￭ thro￭ sis commonly referred to as a non￭ union or false joint is a bone frac￭ ture that has no chance of m￭ ending without intervention in pseu￭ dar￭ thro￭ sis the body percei￭ ves bone fragments as separate bones and does not attempt to unite them often this is the result of inadequate healing after the frac￭ ture though it can also be the result of a developmental failure in the u s f￭ da guidelines allow a period of 9 months for frac￭ ture union after which intervention is considered to facilitate union
mel￭ or￭ he￭ o￭ sto￭ sis
mel￭ or￭ he￭ o￭ sto￭ sis is a medical developmental disorder and mes￭ en￭ ch￭ ym￭ al dys￭ pl￭ asia in which the bon￭ y cor￭ tex wid￭ ens and becomes hyper￭ dense in a s￭ cl￭ ero￭ tom￭ al distribution the condition begins in childhood and is characterized by thick￭ ening of the bones pain is a frequent symptom and the bone can have the appearance of dri￭ pping candle wax
hyper￭ o￭ sto￭ sis
hyper￭ o￭ sto￭ sis is an excessive growth of bone it may lead to exo￭ sto￭ sis it occurs in many mus￭ cul￭ osk￭ el￭ etal disorders
o￭ ste￭ open￭ ia
o￭ ste￭ os￭ clerosis
o￭ ste￭ os￭ clerosis is a type of o￭ ste￭ o￭ petro￭ sis that involves abnormal hard￭ ening of bone and an elev￭ ation in bone density it can be a path￭ ology normally detected on a radio￭ graph as an area of increased op￭ acity that is where more mineral is present in the bone to absorb or defl￭ ect the x ray beam loc￭ alized o￭ ste￭ os￭ clerosis can be caused by injuries that com￭ press the bone by o￭ ste￭ o￭ ar￭ thri￭ tis and o￭ ste￭ oma it is associated with it can also be associated with hepatitis c sclerosis of the bones of the thor￭ ac￭ ic sp￭ ine due to pro￭ state cancer me￭ tast￭ ases ct image
o￭ ste￭ om￭ ye￭ li￭ tis
o￭ ste￭ om￭ ye￭ li￭ tis om is infection and infl￭ amm￭ ation of the bone and bone marrow it can be usefully sub￭ classified on the basis of the caus￭ ative organism py￭ ogenic bacteria or my￭ co￭ bacteria and the route duration and an￭ atomic location of the infection o￭ ste￭ om￭ ye￭ li￭ tis usually begins as an acute infection but it may evolve into a chronic condition the word is from greek words ὀ￭ στ￭ έ￭ ον o￭ ste￭ on meaning bone μ￭ υ￭ ελ￭ ό my￭ elo meaning marrow and ῖ￭ τις i￭ tis meaning infl￭ amm￭ ation
chronic recurrent multi￭ focal o￭ ste￭ om￭ ye￭ li￭ tis
chronic recurrent multi￭ focal o￭ ste￭ om￭ ye￭ li￭ tis cr￭ mo multi￭ focal because it can erup￭ t in different sites primarily bones o￭ ste￭ om￭ ye￭ li￭ tis because it is very similar to that disease but appears to be without any infection also known as chronic recurring multi￭ focal o￭ ste￭ om￭ ye￭ li￭ tis is a rare condition 1 1 000 000 in which the bones have le￭ sions infl￭ amm￭ ation and pain its definition is evolving many doctors and articles described cr￭ mo as an auto￭ immune disease that has symptoms similar to o￭ ste￭ om￭ ye￭ li￭ tis but without the infection some doctors thought cr￭ mo was related to sap￭ ho syndrome cutting edge research now classi￭ fies cr￭ mo as an inherited auto￭ infl￭ am￭ matory disease but have yet to isolate the exact gene responsible for it some specialists believe they have discovered a link between cr
av￭ ascular necro￭ sis
pag￭ et s disease of bone
pag￭ et s disease of bone also termed ambiguously just pag￭ et s disease pag￭ et s is caused by the excessive breakdown and formation of bone followed by dis￭ organized bone remo￭ deling this causes affected bone to weaken resulting in pain mis￭ shap￭ en bones fractu￭ res and ar￭ thri￭ tis in the joints near the affected bones rarely it can develop into a primary bone cancer known as pag￭ et s sar￭ coma often pag￭ et s disease is loc￭ alized to only a few bones in the body the pel￭ vis fem￭ ur and lower lum￭ bar verte￭ bra￭ e are the most commonly affected bones pag￭ et s disease typically is loc￭ alized affecting just one or a few bones as opposed to o￭ ste￭ op￭ or￭ osis for example which usually affects all the bones in the body
pag￭ et s disease of bone also termed ambiguously just pag￭ et s disease pag￭ et s is caused by the excessive breakdown and formation of bone followed by dis￭ organized bone remo￭ deling this causes affected bone to weaken resulting in pain mis￭ shap￭ en bones fractu￭ res and ar￭ thri￭ tis in the joints near the affected bones rarely it can develop into a primary bone cancer known as pag￭ et s sar￭ coma often pag￭ et s disease is loc￭ alized to only a few bones in the body the pel￭ vis fem￭ ur and lower lum￭ bar verte￭ bra￭ e are the most commonly affected bones pag￭ et s disease typically is loc￭ alized affecting just one or a few bones as opposed to o￭ ste￭ op￭ or￭ osis for example which usually affects all the bones in the body a later phase of the disease is characterized by the replacement of normal bone marrow with highly vascular fi￭ bro￭ us tissue because early diagnosis and treatment is important after age 40 si￭ bl￭ ings and children of someone with pag￭ et s disease should have an al￭ kal￭ ine phosp￭ hat￭ ase blood test every two or three years if the al￭ kal￭ ine phosp￭ hat￭ ase level is above normal other tests such as a bone specific al￭ kal￭ ine phosp￭ hat￭ ase test bone scan or x ray can be performed decisions about treating pag￭ et s disease may be complicated as the disease often affects people differently in addition to this it is sometimes difficult to predict whether a person with pag￭ et s disease who shows no signs or symptoms of the disorder will develop symptoms or complications such as a bone frac￭ ture in the future although there is no cure for pag￭ et s disease medications bis￭ phosp￭ hon￭ ates and cal￭ cit￭ on￭ in can help control the disorder and lessen pain and other symptoms medications are often successful in controlling the disorder especially when started before complications begin pag￭ et s disease affects from 1 5 to 8 0 percent of the population depending on age and country of residence pag￭ et s disease is rare in people less than 55 years of age men are more commonly affected than women 3 2 the disease is named after sir james pag￭ et
complex regional pain syndrome
complex regional pain syndrome cr￭ ps also known as reflex sympathetic dy￭ stro￭ phy r￭ s￭ d is a long term condition that often wor￭ sens with time it is characterized by severe pain and sensitivity sw￭ elling and changes in the skin it may initially affect one limb and then spread throughout the body 35 of people report symptoms throughout their whole body treatment is complicated involving medications physical and occupational therapy psychological treatments and neuro￭ modulation and is often unsatisfactory especially if delayed
complex regional pain syndrome cr￭ ps also known as reflex sympathetic dy￭ stro￭ phy r￭ s￭ d is a long term condition that often wor￭ sens with time it is characterized by severe pain and sensitivity sw￭ elling and changes in the skin it may initially affect one limb and then spread throughout the body 35 of people report symptoms throughout their whole body the cause of cr￭ ps is unknown though cr￭ ps is associated with dys￭ regulation of the central nervous system and autonom￭ ic nervous system resulting in multiple functional loss impairment and disability precipit￭ ating factors include injury and surgery although there are cases where no injury had occurred at the original site cr￭ ps is not caused by psychological factors yet the constant pain and reduced quality of life has been known to cause psychological problems such as increased depression and anxiety although research does not reveal support for specific personality or psychop￭ ath￭ ology predic￭ tors of the condition cr￭ ps is associated with psycho￭ social effects including impaired social and occupational function it is classified as an amplified mus￭ cul￭ osk￭ el￭ etal pain syndrome treatment is complicated involving medications physical and occupational therapy psychological treatments and neuro￭ modulation and is often unsatisfactory especially if delayed
hyper￭ troph￭ ic o￭ ste￭ o￭ ar￭ thro￭ pa￭ thy
hyper￭ troph￭ ic o￭ ste￭ o￭ ar￭ thro￭ pa￭ thy also known as hyper￭ troph￭ ic pul￭ mon￭ ary o￭ ste￭ o￭ ar￭ thro￭ pa￭ thy bam￭ berger marie syndrome or o￭ ste￭ o￭ ar￭ thro￭ path￭ ia hyper￭ troph￭ ic￭ ans is a medical condition combining clu￭ bbing and perio￭ sti￭ tis of the small hand joints especially the dis￭ tal inter￭ p￭ hal￭ ange￭ al joints dis￭ tal expansion of the long bones as well as painful sw￭ oll￭ en joints and sy￭ no￭ vi￭ al vill￭ ous proliferation are often seen the condition may occur alone primary or it may be secondary to diseases like lung cancer it is especially associated with non small cell lung carcin￭ oma these patients often get clu￭ bbing and increased bone de￭ position on long bones their presenting symptoms are sometimes only clu￭ bbing and painful an￭ kles
o￭ ste￭ ol￭ ysis
o￭ ste￭ ol￭ ysis is an active resor￭ ption of bone matrix by o￭ ste￭ o￭ cl￭ asts and can be interpreted as the reverse of os￭ sification although o￭ ste￭ o￭ cl￭ asts are active during the natural formation of healthy bone the term o￭ ste￭ ol￭ ysis specifically refers to a pathological process o￭ ste￭ ol￭ ysis often occurs in the proximity of a pro￭ s￭ thesis that causes either an immun￭ ological response or changes in the bone s structural load o￭ ste￭ ol￭ ysis may also be caused by patho￭ logies like bone tumors cy￭ sts or chronic infl￭ amm￭ ation
inf￭ anti￭ le cor￭ tical hyper￭ o￭ sto￭ sis
non￭ os￭ si￭ fying fi￭ bro￭ ma
a non￭ os￭ si￭ fying fi￭ bro￭ ma also called fi￭ bro￭ x￭ an￭ thom￭ a is a fi￭ bro￭ us bone le￭ sion that is usually as￭ ymp￭ tomatic and discovered as an incidental finding on x ray it is the most common benign bone tumor in children and adolescents however it is controversial whether it represents a true ne￭ op￭ las￭ m or rather a developmental disorder of growing bone radio￭ graphically the tumor presents as a well margin￭ ated radi￭ ol￭ uc￭ ent le￭ sion with a distinct multi￭ loc￭ ular appearance these foc￭ i consist of coll￭ agen rich connec￭ tive tissue fi￭ bro￭ bl￭ asts his￭ ti￭ oc￭ y￭ tes and o￭ ste￭ o￭ cl￭ asts they originate from the growth plate and are located in adjacent parts of the metaph￭ ysis and di￭ aph￭ ysis of long bones most often of the legs no treatment is needed in as￭ ymp￭ tomatic patients and spontaneous remission with replacement by bone
a non￭ os￭ si￭ fying fi￭ bro￭ ma also called fi￭ bro￭ x￭ an￭ thom￭ a is a fi￭ bro￭ us bone le￭ sion that is usually as￭ ymp￭ tomatic and discovered as an incidental finding on x ray it is the most common benign bone tumor in children and adolescents however it is controversial whether it represents a true ne￭ op￭ las￭ m or rather a developmental disorder of growing bone radio￭ graphically the tumor presents as a well margin￭ ated radi￭ ol￭ uc￭ ent le￭ sion with a distinct multi￭ loc￭ ular appearance these foc￭ i consist of coll￭ agen rich connec￭ tive tissue fi￭ bro￭ bl￭ asts his￭ ti￭ oc￭ y￭ tes and o￭ ste￭ o￭ cl￭ asts they originate from the growth plate and are located in adjacent parts of the metaph￭ ysis and di￭ aph￭ ysis of long bones most often of the legs no treatment is needed in as￭ ymp￭ tomatic patients and spontaneous remission with replacement by bone tissue is to be expected multiple non￭ os￭ si￭ fying fi￭ bro￭ mas occur in jaff￭ e camp￭ an￭ acc￭ i syndrome in combination with cafe au la￭ it spots mental retar￭ dation hypo￭ gon￭ ad￭ ism oc￭ ular and cardiovascular ab￭ norm￭ alities
perio￭ sti￭ tis
ch￭ on￭ dro￭ pa￭ thy
in medicine ch￭ on￭ dro￭ pa￭ thy refers to a disease of the car￭ til￭ age it is frequently divided into 5 grades with 0 2 defined as normal and 3 4 defined as dise￭ ased
leg￭ g – cal￭ vé – per￭ thes disease
leg￭ g – cal￭ vé – per￭ thes disease l￭ c￭ pd is a childhood hip disorder initiated by a disruption of blood flow to the ball of the fem￭ ur called the fem￭ oral head due to the lack of blood flow the bone dies o￭ ste￭ on￭ ec￭ ro￭ sis or av￭ ascular necro￭ sis and stops growing over time healing occurs by new blood vessels infiltr￭ ating the dead bone and removing the necro￭ tic bone which leads to a loss of bone mass and a weakening of the fem￭ oral head the bone loss leads to some degree of collapse and de￭ form￭ ity of the fem￭ oral head and sometimes secondary changes to the shape of the hip socket it is also referred to as idi￭ opathic av￭ ascular o￭ ste￭ on￭ ec￭ ro￭ sis of the capital fem￭ oral ep￭ ip￭ h￭ ysis of the fem￭ oral head since the cause of the interruption of the blood supply of the head of the fem￭ ur in the hip joint is unknown
bl￭ oun￭ t s disease
os￭ good – sch￭ latter disease
os￭ good – sch￭ latter disease os￭ d also known as apo￭ physi￭ tis of the ti￭ bial tuber￭ cle or l￭ ann￭ el￭ on￭ gue s disease is an infl￭ amm￭ ation of the pat￭ ell￭ ar lig￭ ament at the ti￭ bial tuber￭ osity it is characterized by a painful bump just below the knee and is most often seen in young adolescents risk factors include over￭ use especially in sports involving running jumping and quick changes of direction and adoles￭ cent growth spur￭ ts
os￭ good – sch￭ latter disease os￭ d also known as apo￭ physi￭ tis of the ti￭ bial tuber￭ cle or l￭ ann￭ el￭ on￭ gue s disease is an infl￭ amm￭ ation of the pat￭ ell￭ ar lig￭ ament at the ti￭ bial tuber￭ osity it is characterized by a painful bump just below the knee and is most often seen in young adolescents risk factors include over￭ use especially in sports involving running jumping and quick changes of direction and adoles￭ cent growth spur￭ ts the condition is named after robert bay￭ ley os￭ good 18￭ 73 – 1956 an american orth￭ o￭ ped￭ ic surgeon and carl b sch￭ latter 18￭ 64 – 19￭ 34 a swiss surgeon who described the condition independently in 19￭ 03
kö￭ hler disease
kö￭ hler disease also spelled ko￭ hler and referred to in some texts as ko￭ hler disease ii is a rare bone disorder of the foot found in children between six and nine years of age the disease typically affects boys but it can also affect girls it was first described in 19￭ 08 by al￭ ban kö￭ hler 18￭ 74 – 1947 a german radio￭ logist in february 2010 the journal of the american medical association reported that the 19 year old king tu￭ tan￭ kham￭ un may well have died of complications from malaria combined with kö￭ hler disease ii
fre￭ i￭ berg disease
fre￭ i￭ berg disease also known as a fre￭ i￭ berg infr￭ action is a form of av￭ ascular necro￭ sis in the met￭ at￭ ar￭ sal it generally develops in the second met￭ at￭ ar￭ sal but can occur in any met￭ at￭ ar￭ sal physical stress causes repeated micro￭ fractu￭ res where the middle of the met￭ at￭ ar￭ sal meets the growth plate these restrict circulation to the end of the met￭ at￭ ar￭ sal causing the necro￭ sis it is an un￭ common condition occurring most often in young women athletes and those with abnormally long met￭ at￭ ar￭ s￭ als approximately 80 of those diagnosed are women
ki￭ en￭ bo￭ ck s disease
o￭ ste￭ och￭ on￭ dri￭ tis dis￭ sec￭ ans
o￭ ste￭ och￭ on￭ dri￭ tis dis￭ sec￭ ans oc￭ d or od is a joint disorder in which cracks form in the artic￭ ular car￭ til￭ age and the underlying sub￭ ch￭ on￭ dr￭ al bone oc￭ d usually causes pain and sw￭ elling of the affected joint which catches and locks during movement physical examination typically reveals an eff￭ usion tender￭ ness and a crack￭ ling sound with joint movement
o￭ ste￭ och￭ on￭ dri￭ tis dis￭ sec￭ ans oc￭ d or od is a joint disorder in which cracks form in the artic￭ ular car￭ til￭ age and the underlying sub￭ ch￭ on￭ dr￭ al bone oc￭ d usually causes pain and sw￭ elling of the affected joint which catches and locks during movement physical examination typically reveals an eff￭ usion tender￭ ness and a crack￭ ling sound with joint movement oc￭ d is caused by blood deprivation in the sub￭ ch￭ on￭ dr￭ al bone this loss of blood flow causes the sub￭ ch￭ on￭ dr￭ al bone to die in a process called av￭ ascular necro￭ sis the bone is then re￭ absorbed by the body leaving the artic￭ ular car￭ til￭ age it supported prone to damage the result is fragmentation dis￭ section of both car￭ til￭ age and bone and the free movement of these bone and car￭ til￭ age fragments within the joint space causing pain and further damage oc￭ d can be difficult to diagnose because these symptoms are found with other diseases however the disease can be confirmed by x rays compu￭ ted tom￭ o￭ graphy ct or magnetic resonance imaging m￭ ri sc￭ ans non surgical treatment is rarely an option as the ability for artic￭ ular car￭ til￭ age to heal is limited as a result even moderate cases require some form of surgery when possible non operative forms of management such as protected reduced or non weight bearing and im￭ mobilization are used surgical treatment includes ar￭ thro￭ scopic drilling of intact le￭ sions securing of car￭ til￭ age fl￭ ap le￭ sions with pins or screws drilling and replacement of car￭ til￭ age plu￭ gs stem cell transplantation and joint replacement after surgery rehabilitation is usually a two stage process of im￭ mobilization and physical therapy most rehabilitation programs combine efforts to protection the joint with muscle strengthening and range of motion during the im￭ mobilization period is￭ ome￭ tric exercises such as straight leg raises are commonly used to restore muscle loss without disturbing the car￭ til￭ age of the affected joint once the im￭ mobilization period has ended physical therapy involves continuous passive motion c￭ pm and or low impact activities such as walking or swimming oc￭ d occurs in 15 to 30 people per 100 000 in the general population each year although rare it is an important cause of joint pain in physically active adolescents because their bones are still growing adolescents are more likely than adults to recover from oc￭ d recovery in adolescents can be attributed to the bone s ability to repair damaged or dead bone tissue and car￭ til￭ age in a process called bone remo￭ deling while oc￭ d may affect any joint the knee tends to be the most commonly affected and constitutes 75 of all cases franz kö￭ ni￭ g coined the term o￭ ste￭ och￭ on￭ dri￭ tis dis￭ sec￭ ans in 18￭ 87 describing it as an infl￭ amm￭ ation of the bone – car￭ til￭ age interface many other conditions were once confused with oc￭ d when attempting to describe how the disease affected the joint including o￭ ste￭ och￭ on￭ dr￭ al frac￭ ture o￭ ste￭ on￭ ec￭ ro￭ sis accessory os￭ sification center o￭ ste￭ och￭ on￭ dro￭ sis and hereditary ep￭ ip￭ hy￭ seal dys￭ pl￭ asia some authors have used the terms o￭ ste￭ och￭ on￭ dro￭ sis dis￭ sec￭ ans and o￭ ste￭ och￭ on￭ dr￭ al fragments as synon￭ y￭ ms for oc￭ d
ti￭ et￭ ze syndrome
ti￭ et￭ ze syndrome also called ch￭ on￭ dro￭ path￭ ia tuber￭ osa or co￭ sto￭ ch￭ on￭ dr￭ al junction syndrome is a benign infl￭ amm￭ ation of one or more of the cost￭ al car￭ til￭ ages it was first described in 19￭ 21 by the german surgeon alexander ti￭ et￭ ze 18￭ 64 – 19￭ 27
relap￭ sing poly￭ ch￭ on￭ dri￭ tis
relap￭ sing poly￭ ch￭ on￭ dri￭ tis is a multi systemic condition characterized by infl￭ amm￭ ation and deterioration of car￭ til￭ age the often painful disease can cause joint de￭ form￭ ity and be life threatening if the respiratory tract heart valves or blood vessels are affected the exact mechanism is poorly understood but it is thought to be related to an immune medi￭ ated attack on particular proteins that are abundant in car￭ til￭ age
cau￭ lif￭ lower ear
young s syndrome
young s syndrome also known as az￭ o￭ os￭ per￭ mia sin￭ op￭ ul￭ mon￭ ary infections sin￭ u￭ si￭ tis in￭ fertility syndrome and barry per￭ kins young syndrome is a rare condition that encompasses a combination of syndro￭ mes such as bron￭ chi￭ ec￭ tas￭ is rhin￭ o￭ sin￭ u￭ si￭ tis and reduced fertility in individuals with this syndrome the functioning of the lungs is usually normal but the m￭ uc￭ us is abnormally vis￭ co￭ us the reduced fertility az￭ o￭ os￭ per￭ mia is due to functional obstruction of sperm transport down the genital tract at the epi￭ di￭ dy￭ mis where the sper￭ ms are found in vis￭ co￭ us lip￭ id rich fluid the syndrome was named after donald young the u￭ ro￭ logist who first made observations of the clinical signs of the syndrome in 1972 there have been several studies undertaken suggesting that contact with mercury might cause the syn￭ dro
glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis
glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis gn also known as glo￭ mer￭ ular ne￭ ph￭ ri￭ tis is a term used to refer to several kidney diseases usually affecting both kidneys many of the diseases are characterised by infl￭ amm￭ ation either of the glo￭ mer￭ uli or of the small blood vessels in the kidneys hence the name but not all diseases necessarily have an infl￭ am￭ matory component
focal seg￭ mental glo￭ mer￭ ul￭ os￭ clerosis
minimal change disease
minimal change disease mc￭ d also known as nil disease or by is a kidney disease that causes ne￭ ph￭ ro￭ tic syndrome and usually affects children with peak incidence at ages 2 to 3 years the disease de￭ grades the kidney s ability to filter and the impaired ren￭ al function causes e￭ dem￭ a
memb￭ ran￭ o￭ prolifer￭ ative glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis
memb￭ ran￭ o￭ prolifer￭ ative glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis mp￭ gn also known as mes￭ an￭ gi￭ oc￭ ap￭ ill￭ ary glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis is a type of glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis caused by deposits in the kidney glo￭ mer￭ ular mes￭ an￭ gi￭ um and basement memb￭ rane g￭ bm thick￭ ening activating complement and damaging the glo￭ mer￭ uli mp￭ gn accounts for approximately 4 of primary ren￭ al causes of ne￭ ph￭ ri￭ tic syndrome in children and 7 in adults it should not be confused with memb￭ ran￭ ous glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis a condition in where the basement memb￭ rane is thick￭ ened but the mes￭ an￭ gi￭ um is not
kidney disease
kidney disease also known as ne￭ ph￭ ro￭ pa￭ thy or ren￭ al disease is damage to or disease of a kidney ne￭ ph￭ ri￭ tis is infl￭ am￭ matory kidney disease ne￭ ph￭ ro￭ sis is non￭ infl￭ am￭ matory ne￭ ph￭ ro￭ pa￭ thy kidney disease usually causes kidney failure ren￭ al failure to more or less degree with the amount depending on the type of disease in precise usage disease den￭ o￭ tes the structural and eti￭ o￭ logic disease entity whereas failure den￭ o￭ tes the dysfunction lack of working well that is impaired ren￭ al function but in common usage these meanings overlap for example the terms chronic kidney disease and chronic ren￭ al failure are usually considered synonymous acute kidney disease has often been called acute ren￭ al failure although ne￭ ph￭ ro￭ logists now often tend to call it acute kidney injury about 1 in 8 americans
kidney disease also known as ne￭ ph￭ ro￭ pa￭ thy or ren￭ al disease is damage to or disease of a kidney ne￭ ph￭ ri￭ tis is infl￭ am￭ matory kidney disease ne￭ ph￭ ro￭ sis is non￭ infl￭ am￭ matory ne￭ ph￭ ro￭ pa￭ thy kidney disease usually causes kidney failure ren￭ al failure to more or less degree with the amount depending on the type of disease in precise usage disease den￭ o￭ tes the structural and eti￭ o￭ logic disease entity whereas failure den￭ o￭ tes the dysfunction lack of working well that is impaired ren￭ al function but in common usage these meanings overlap for example the terms chronic kidney disease and chronic ren￭ al failure are usually considered synonymous acute kidney disease has often been called acute ren￭ al failure although ne￭ ph￭ ro￭ logists now often tend to call it acute kidney injury about 1 in 8 americans suffer from chronic kidney disease
acute prolifer￭ ative glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis
rapidly progressive glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis
rapidly progressive glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis r￭ p￭ gn is a syndrome of the kidney that is characterized by a rapid loss of ren￭ al function usually a 50 decline in the glo￭ mer￭ ular fil￭ tration rate g￭ fr within 3 months with glo￭ mer￭ ular cres￭ cent formation seen in at least 50 or 75 of glo￭ mer￭ uli seen on kidney biop￭ sies if left untreated it rapidly progres￭ ses into acute ren￭ al failure and death within months in 50 of cases r￭ p￭ gn is associated with an underlying disease such as good￭ pasture syndrome systemic lup￭ us er￭ y￭ them￭ ato￭ sus or gran￭ ul￭ om￭ at￭ osis with pol￭ yan￭ gi￭ i￭ tis the remaining cases are idi￭ opathic regardless of the underlying cause r￭ p￭ gn involves severe injury to the kidneys glo￭ mer￭ uli with many of the glo￭ mer￭ uli containing characteristic glo￭ mer￭ ular cres￭ cents cres￭ cent shaped scars
hem￭ atur￭ ia
ig￭ a ne￭ ph￭ ro￭ pa￭ thy
ig￭ a ne￭ ph￭ ro￭ pa￭ thy i￭ gan also known as ig￭ a ne￭ ph￭ ri￭ tis berger disease b￭ ɛ￭ ə￭ r￭ ˈ￭ ʒ￭ e￭ ɪ and variations or syn￭ phar￭ yn￭ gi￭ tic glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis is a disease of the kidney or ne￭ ph￭ ro￭ pa￭ thy specifically it is a form of glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis or an infl￭ amm￭ ation of the glo￭ mer￭ uli of the kidney
memb￭ ran￭ ous glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis
ne￭ ph￭ ro￭ tic syndrome
ne￭ ph￭ ro￭ tic syndrome is a syndrome comprising signs of ne￭ ph￭ ro￭ sis chiefly prote￭ in￭ ur￭ ia hypo￭ albu￭ min￭ emia and e￭ dem￭ a it is a component of glo￭ mer￭ ul￭ on￭ eph￭ ro￭ sis in which different degrees of prote￭ in￭ ur￭ ia occur essentially loss of protein through the kidneys prote￭ in￭ ur￭ ia leads to low protein levels in the blood hypo￭ prote￭ in￭ emia including hypo￭ albu￭ min￭ emia which causes water to be drawn into soft tissues e￭ dem￭ a very low hypo￭ albu￭ min￭ emia can also cause a variety of secondary problems such as water in the ab￭ domin￭ al cav￭ ity as￭ cites around the heart or lung peric￭ ardi￭ al eff￭ usion ple￭ ural eff￭ usion high cho￭ le￭ sterol hence hyper￭ li￭ pi￭ dem￭ ia loss of molecules regulating co￭ ag￭ ulation hence increased risk of thro￭ m￭ bo￭ sis
thin basement memb￭ rane disease
inter￭ sti￭ tial ne￭ ph￭ ri￭ tis
inter￭ sti￭ tial ne￭ ph￭ ri￭ tis or tu￭ bul￭ o inter￭ sti￭ tial ne￭ ph￭ ri￭ tis is a form of ne￭ ph￭ ri￭ tis affecting the inter￭ sti￭ tium of the kidneys surrounding the tu￭ bul￭ es this disease can be either acute meaning it occurs suddenly or chronic meaning it is ongoing and eventually ends in kidney failure
p￭ yel￭ on￭ eph￭ ri￭ tis
p￭ yel￭ on￭ eph￭ ri￭ tis is an infl￭ amm￭ ation of the kidney tissue caly￭ ces and ren￭ al pel￭ vis it is commonly caused by bacterial infection that has spread up the ur￭ inary tract or travelled through the blood￭ stream to the kidneys a similar term is p￭ ye￭ li￭ tis which means infl￭ amm￭ ation of the pel￭ vis and caly￭ ces in other words p￭ ye￭ li￭ tis together with ne￭ ph￭ ri￭ tis is collectively known as p￭ yel￭ on￭ eph￭ ri￭ tis severe cases of p￭ yel￭ on￭ eph￭ ri￭ tis can lead to py￭ on￭ eph￭ ro￭ sis p￭ us accumulation around the kidney sep￭ sis a systemic infl￭ am￭ matory response of the body to infection kidney failure and even death
obstruc￭ tive u￭ ro￭ pa￭ thy
obstruc￭ tive u￭ ro￭ pa￭ thy is a structural or functional hindrance of normal urine flow sometimes leading to ren￭ al dysfunction obstruc￭ tive ne￭ ph￭ ro￭ pa￭ thy it is a very broad term and does not imply a location or eti￭ ology
hydro￭ ne￭ ph￭ ro￭ sis
hydro￭ ne￭ ph￭ ro￭ sis — literally water inside the kidney — refers to dis￭ tension and dil￭ ation of the ren￭ al pel￭ vis and caly￭ ces usually caused by obstruction of the free flow of urine from the kidney untreated it leads to progressive atro￭ phy of the kidney one or both kidneys may be affected in cases of hy￭ drou￭ re￭ ter￭ on￭ eph￭ ro￭ sis there is dist￭ ention of both the u￭ re￭ ter and the ren￭ al pel￭ vis and cal￭ ices
retro￭ per￭ it￭ one￭ al fi￭ bro￭ sis
retro￭ per￭ it￭ one￭ al fi￭ bro￭ sis or or￭ mond s disease is a disease featuring the proliferation of fi￭ bro￭ us tissue in the retro￭ per￭ it￭ on￭ eu￭ m the compartment of the body containing the kidneys a￭ or￭ ta ren￭ al tract and various other structures it may present with lower back pain kidney failure hyper￭ tension deep vein thro￭ m￭ bo￭ sis and other obstruc￭ tive symptoms it is named after john kel￭ so or￭ mond who re￭ discovered the condition in 1948
ve￭ si￭ cou￭ re￭ ter￭ al ref￭ lux
ve￭ si￭ cou￭ re￭ ter￭ al ref￭ lux v￭ ur is a condition in which urine flows retrograde or backward from the blad￭ der into the u￭ re￭ ters kidneys urine normally travels in one direction forward or an￭ te￭ grade from the kidneys to the blad￭ der via the u￭ re￭ ters with a 1 way valve at the u￭ re￭ ter￭ o￭ ves￭ ical u￭ re￭ ter￭ al blad￭ der junction preventing back￭ flow the valve is formed by obli￭ que tunn￭ eling of the dis￭ tal u￭ re￭ ter through the wall of the blad￭ der creating a short length of u￭ re￭ ter 1 – 2 cm that can be compressed as the blad￭ der fills ref￭ lux occurs if the u￭ re￭ ter enters the blad￭ der without sufficient tunn￭ eling i e too end on
anal￭ ges￭ ic ne￭ ph￭ ro￭ pa￭ thy
anal￭ ges￭ ic ne￭ ph￭ ro￭ pa￭ thy is injury to the kidney caused by anal￭ ges￭ ic medications such as aspir￭ in phen￭ ace￭ tin and par￭ acet￭ am￭ ol the term usually refers to damage induced by excessive use of combinations of these medications especially combinations that include phen￭ ace￭ tin it may also be used to describe kidney injury from any single anal￭ ges￭ ic medication
balkan endemic ne￭ ph￭ ro￭ pa￭ thy
acute kidney injury
acute kidney injury aki previously called acute ren￭ al failure ar￭ f is an abrupt loss of kidney function that develops within 7 days its causes are numerous generally it occurs because of damage to the kidney tissue caused by decreased kidney blood flow kidney is￭ chem￭ ia from any cause e g low blood pressure exposure to substances harmful to the kidney an infl￭ am￭ matory process in the kidney or an obstruction of the ur￭ inary tract that impedes the flow of urine aki is diagnosed on the basis of characteristic laboratory findings such as elevated blood urea nitrogen and cre￭ at￭ in￭ ine or inability of the kidneys to produce sufficient amounts of urine
acute kidney injury aki previously called acute ren￭ al failure ar￭ f is an abrupt loss of kidney function that develops within 7 days its causes are numerous generally it occurs because of damage to the kidney tissue caused by decreased kidney blood flow kidney is￭ chem￭ ia from any cause e g low blood pressure exposure to substances harmful to the kidney an infl￭ am￭ matory process in the kidney or an obstruction of the ur￭ inary tract that impedes the flow of urine aki is diagnosed on the basis of characteristic laboratory findings such as elevated blood urea nitrogen and cre￭ at￭ in￭ ine or inability of the kidneys to produce sufficient amounts of urine aki may lead to a number of complications including metabol￭ ic aci￭ do￭ sis high potassium levels u￭ re￭ mia changes in body fluid balance and effects on other organ systems including death people who have experienced aki may have an increased risk of chronic kidney disease in the future management includes treatment of the underlying cause and supportive care such as ren￭ al replacement therapy
kidney failure
kidney failure also known as ren￭ al failure or ren￭ al in￭ sufficiency is a medical condition of impaired kidney function in which the kidneys fail to adequately filter metabol￭ ic wastes from the blood the two main forms are acute kidney injury which is often reversible with adequate treatment and chronic kidney disease which is often not reversible in both cases there is usually an underlying cause
kidney failure also known as ren￭ al failure or ren￭ al in￭ sufficiency is a medical condition of impaired kidney function in which the kidneys fail to adequately filter metabol￭ ic wastes from the blood the two main forms are acute kidney injury which is often reversible with adequate treatment and chronic kidney disease which is often not reversible in both cases there is usually an underlying cause kidney failure is mainly determined by a decrease in glo￭ mer￭ ular fil￭ tration rate which is the rate at which blood is filtered in the glo￭ mer￭ uli of the kidney the condition is detected by a decrease in or absence of urine production or determination of waste products cre￭ at￭ in￭ ine or urea in the blood depending on the cause hem￭ atur￭ ia blood loss in the urine and prote￭ in￭ ur￭ ia protein loss in the urine may be noted in kidney failure there may be problems with increased fluid in the body leading to sw￭ elling increased acid levels raised levels of potassium decreased levels of calcium increased levels of phosphate and in later stages an￭ emia bone health may also be affected long term kidney problems are associated with an increased risk of cardiovascular disease
chronic kidney disease
chronic kidney disease ck￭ d also known as chronic ren￭ al disease is progressive loss in kidney function over a period of months or years the symptoms of worsening kidney function are not specific and might include feeling generally un￭ well and experiencing a reduced appetite often chronic kidney disease is diagnosed as a result of screening of people known to be at risk of kidney problems such as those with high blood pressure or diabetes and those with a blood￭ line relative with ck￭ d this disease may also be identified when it leads to one of its recognized complications such as cardiovascular disease an￭ emia peric￭ ardi￭ tis or ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy the latter included in the novel term ck￭ d m￭ b￭ d ck￭ d is a long term form of kidney disease thus it is differentiated from acute kidney d
u￭ re￭ mia
u￭ re￭ mia can be translated as urea in the blood urea is one of the primary components of urine it can be defined as an excess of amino acid and protein metabol￭ ism end products such as urea and cre￭ at￭ in￭ ine in the blood that would be normally ex￭ cre￭ ted in the urine the u￭ rem￭ ic syndrome can be defined as the terminal clinical manifestation of kidney failure also called ren￭ al failure it is the signs symptoms and results from laboratory tests which result from inadequate ex￭ cre￭ tory regulatory and endocrine function of the kidneys both u￭ re￭ mia and the u￭ rem￭ ic syndrome have been used inter￭ change￭ ably to define a very high plasma urea concentration that is the result of ren￭ al failure the latter definition will be used for the rest of the article
kidney stone disease
kidney stone disease also known as u￭ ro￭ li￭ thi￭ asis is when a solid piece of material kidney stone occurs in the ur￭ inary tract kidney stones typically form in the kidney and leave the body in the urine stream a small stone may pass without causing symptoms if a stone grows to more than 5 milli￭ meters 0 2 in it can cause block￭ age of the u￭ re￭ ter resulting in severe pain in the lower back or ab￭ dom￭ en a stone may also result in blood in the urine v￭ om￭ iting or painful ur￭ ination about half of people will have another stone within ten years
ren￭ al col￭ ic
ren￭ al col￭ ic is a type of ab￭ domin￭ al pain commonly caused by kidney stones
ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy
ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy is currently defined as an alteration of bone mor￭ pho￭ logy in patients with chronic kidney disease ck￭ d it is one measure of the sk￭ el￭ etal component of the systemic disorder of chronic kidney disease mineral and bone disorder ck￭ d m￭ b￭ d the term ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy was coined in 19￭ 43 60 years after an association was identified between bone disease and ren￭ al failure the traditional types of ren￭ al o￭ ste￭ od￭ y￭ stro￭ phy have been defined on the basis of turnover and miner￭ alization as follows mild slight increase in turnover and normal miner￭ alization ost￭ ei￭ tis fi￭ bro￭ sa increased turnover and normal miner￭ alization o￭ ste￭ om￭ al￭ ac￭ ia decreased turnover and abnormal miner￭ alization ad￭ y￭ nam￭ ic decreased turnover and ac￭ ell￭ ul￭ arity mixed increased turnover with abnormal miner￭ aliz￭ ati
pseu￭ do￭ hypo￭ al￭ do￭ ster￭ on￭ ism
pseu￭ do￭ hypo￭ al￭ do￭ ster￭ on￭ ism ph￭ a is a condition that mim￭ ics hypo￭ al￭ do￭ ster￭ on￭ ism however the condition is due to a failure of response to al￭ do￭ ster￭ one and levels of al￭ do￭ ster￭ one are actually elevated due to a lack of feedback inhi￭ bi￭ tion treatment of severe forms of ph￭ a requires relatively large amounts of sodium chloride these conditions also involve hyper￭ kal￭ emia types include
pseu￭ do￭ hypo￭ al￭ do￭ ster￭ on￭ ism ph￭ a is a condition that mim￭ ics hypo￭ al￭ do￭ ster￭ on￭ ism however the condition is due to a failure of response to al￭ do￭ ster￭ one and levels of al￭ do￭ ster￭ one are actually elevated due to a lack of feedback inhi￭ bi￭ tion this syndrome was first described by cheek and perry in 1958 later pedi￭ atric endocr￭ ino￭ logist aaron han￭ u￭ ko￭ gl￭ u reported that there are two independent forms of ph￭ a with different inheritance patterns ren￭ al form with auto￭ som￭ al dominant inheritance exhi￭ biting salt loss mainly from the kidneys and multi system form with auto￭ som￭ al rec￭ essive form exhi￭ biting salt loss from kidney lung and sweat and sali￭ vary g￭ lands treatment of severe forms of ph￭ a requires relatively large amounts of sodium chloride these conditions also involve hyper￭ kal￭ emia types include
ren￭ al tu￭ bul￭ ar aci￭ do￭ sis
ren￭ al tu￭ bul￭ ar aci￭ do￭ sis r￭ ta is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidi￭ fy the urine in ren￭ al physi￭ ology when blood is filtered by the kidney the fil￭ tr￭ ate passes through the tu￭ bul￭ es of the ne￭ phr￭ on allowing for exchange of salts acid equivalents and other solu￭ tes before it dra￭ ins into the blad￭ der as urine the metabol￭ ic aci￭ do￭ sis that results from r￭ ta may be caused either by failure to re￭ absorb sufficient bic￭ ar￭ bon￭ ate ions which are al￭ kal￭ ine from the fil￭ tr￭ ate in the early portion of the ne￭ phr￭ on the proxim￭ al tu￭ bu￭ le or by insufficient secre￭ tion of hydrogen ions which are ac￭ id￭ ic into the latter portions of the ne￭ phr￭ on the dis￭ tal tu￭ bu￭ le although a metabol￭ ic aci￭ do￭ sis also occurs in those with ren￭ al i
git￭ el￭ man syndrome
git￭ el￭ man syndrome is an auto￭ som￭ al rec￭ essive kidney disorder characterized by hypo￭ kal￭ emic metabol￭ ic al￭ k￭ alo￭ sis with hypo￭ calci￭ ur￭ ia and hypo￭ mag￭ nes￭ emia it is caused by loss of function mutations of the thi￭ az￭ ide sensitive sodium chloride sym￭ porter also known as nc￭ c nc￭ ct or ts￭ c located in the dis￭ tal con￭ volu￭ ted tu￭ bu￭ le
ren￭ al cyst
ne￭ ph￭ ro￭ pto￭ sis
ne￭ ph￭ ro￭ pto￭ sis also called floating kidney or ren￭ al pto￭ sis is an abnormal condition in which the kidney drops down into the pel￭ vis when the patient stands up it is more common in women than in men it has been one of the most controversial conditions among doctors in both its diagnosis and its treatments
u￭ re￭ ter￭ oce￭ le
a u￭ re￭ ter￭ oce￭ le is a con￭ genital ab￭ normality found in the u￭ re￭ ter in this condition the dis￭ tal u￭ re￭ ter ballo￭ ons at its opening into the blad￭ der forming a s￭ ac like p￭ ouch it is most often associated with a duplic￭ ated collection system where two u￭ re￭ ters drain their respective kidney instead of one simple u￭ re￭ ter￭ oce￭ le where the condition involves only a single u￭ re￭ ter represents only twenty percent of cases u￭ re￭ ter￭ oce￭ le affects one in 4 000 individuals at least four fifths of whom are female patients are frequently caucasian
a u￭ re￭ ter￭ oce￭ le is a con￭ genital ab￭ normality found in the u￭ re￭ ter in this condition the dis￭ tal u￭ re￭ ter ballo￭ ons at its opening into the blad￭ der forming a s￭ ac like p￭ ouch it is most often associated with a duplic￭ ated collection system where two u￭ re￭ ters drain their respective kidney instead of one simple u￭ re￭ ter￭ oce￭ le where the condition involves only a single u￭ re￭ ter represents only twenty percent of cases u￭ re￭ ter￭ oce￭ le affects one in 4 000 individuals at least four fifths of whom are female patients are frequently caucasian since the advent of the ul￭ tras￭ ound most u￭ re￭ ter￭ oc￭ el￭ es are diagnosed pre￭ nat￭ ally the pedi￭ atric and adult conditions are often found incidentally i e through diagnostic imaging performed for unrelated reasons
me￭ gau￭ re￭ ter
me￭ gau￭ re￭ ter is a medical anomaly whereby the u￭ re￭ ter is abnormally dil￭ ated con￭ genital me￭ gau￭ re￭ ter is an un￭ common condition which is more common in males may be bilateral and is often associated with other con￭ genital anomalies the cause is thought to be aper￭ ist￭ al￭ sis of the dis￭ tal u￭ re￭ ter leading to di￭ lat￭ ation a functional obstruction at the lower end of the u￭ re￭ ter leads to progressive di￭ lat￭ ation and a tendency to infection the u￭ re￭ ter￭ ic ori￭ fice appears normal and a u￭ re￭ ter￭ ic cathe￭ ter passes easily
me￭ gau￭ re￭ ter is a medical anomaly whereby the u￭ re￭ ter is abnormally dil￭ ated con￭ genital me￭ gau￭ re￭ ter is an un￭ common condition which is more common in males may be bilateral and is often associated with other con￭ genital anomalies the cause is thought to be aper￭ ist￭ al￭ sis of the dis￭ tal u￭ re￭ ter leading to di￭ lat￭ ation a functional obstruction at the lower end of the u￭ re￭ ter leads to progressive di￭ lat￭ ation and a tendency to infection the u￭ re￭ ter￭ ic ori￭ fice appears normal and a u￭ re￭ ter￭ ic cathe￭ ter passes easily definitive surgical treatment involves ref￭ as￭ hi￭ oning the lower end of the affected u￭ re￭ ter so that a tunn￭ elled re￭ implan￭ tation into the blad￭ der can be done to prevent ref￭ lux
inter￭ sti￭ tial cy￭ sti￭ tis
inter￭ sti￭ tial cy￭ sti￭ tis ic also known as blad￭ der pain syndrome b￭ ps is a type of chronic pain that affects the blad￭ der symptoms include feeling the need to ur￭ inate right away needing to ur￭ inate often and pain with sex ic b￭ ps is associated with depression and lower quality of life many of those affected also have irrit￭ able bo￭ wel syndrome and fi￭ bro￭ my￭ al￭ gia
inter￭ sti￭ tial cy￭ sti￭ tis ic also known as blad￭ der pain syndrome b￭ ps is a type of chronic pain that affects the blad￭ der symptoms include feeling the need to ur￭ inate right away needing to ur￭ inate often and pain with sex ic b￭ ps is associated with depression and lower quality of life many of those affected also have irrit￭ able bo￭ wel syndrome and fi￭ bro￭ my￭ al￭ gia the cause of ic b￭ ps is unknown while it can it does not typically run in a family the diagnosis is usually based on the symptoms after ruling out other conditions typically the urine culture is negative ul￭ cer￭ ation or infl￭ amm￭ ation maybe seen on cy￭ sto￭ sco￭ py other conditions which can produce similar symptoms include ur￭ inary tract infection u￭ ti over￭ active blad￭ der sexually transmitted infections end￭ ome￭ tri￭ osis blad￭ der cancer and pro￭ stati￭ tis there is no cure for inter￭ sti￭ tial cy￭ sti￭ tis treatments that may improve symptoms include lifestyle changes medications or procedures lifestyle changes may include stopping smoking and reducing stress medications may include i￭ bu￭ prof￭ en pent￭ os￭ an pol￭ ys￭ ul￭ fate or am￭ it￭ rip￭ ty￭ line procedures may include blad￭ der dist￭ ention nerve stimulation or surgery pel￭ vic floor exercises and long term antibiotics are not recommended in the united states and europe it is estimated that around 0 5 of people are affected women are affected about five times as often as men onset is typically in middle age the term inter￭ sti￭ tial cy￭ sti￭ tis first came into use in 18￭ 87
neuro￭ genic blad￭ der dysfunction
neuro￭ genic blad￭ der dysfunction sometimes simply referred to as neuro￭ genic blad￭ der is a dysfunction of the ur￭ inary blad￭ der due to disease of the central nervous system or peripheral nerves involved in the control of mic￭ tur￭ ition ur￭ ination neuro￭ genic blad￭ der usually causes difficulty or full inability to pass urine without use of a cathe￭ ter or other method
u￭ re￭ thri￭ tis
u￭ re￭ th￭ ral stric￭ ture
a u￭ re￭ th￭ ral stric￭ ture is a narrowing of the u￭ re￭ th￭ ra caused by injury instrum￭ entation infection and certain non infectious forms of u￭ re￭ thri￭ tis
ur￭ inary tract infection
a ur￭ inary tract infection u￭ ti is an infection that affects part of the ur￭ inary tract when it affects the lower ur￭ inary tract it is known as a blad￭ der infection cy￭ sti￭ tis and when it affects the upper ur￭ inary tract it is known as kidney infection p￭ yel￭ on￭ eph￭ ri￭ tis symptoms from a lower ur￭ inary tract include pain with ur￭ ination frequent ur￭ ination and feeling the need to ur￭ inate despite having an empty blad￭ der symptoms of a kidney infection include fever and flank pain usually in addition to the symptoms of a lower u￭ ti rarely the urine may appear bloody in the very old and the very young symptoms may be vague or non specific
py￭ ur￭ ia
in medicine py￭ ur￭ ia pa￭ ɪ￭ j￭ ʊ￭ ə￭ ˈ￭ ri￭ ː￭ ə is the condition of urine containing white blood cells or p￭ us defined as the presence of 6 10 or more neu￭ troph￭ ils per high power field of un￭ sp￭ un vo￭ i￭ ded mid stream urine it can be a sign of a bacterial ur￭ inary tract infection py￭ ur￭ ia may be present in the se￭ ptic patient or in an older patient with pneumonia
in medicine py￭ ur￭ ia pa￭ ɪ￭ j￭ ʊ￭ ə￭ ˈ￭ ri￭ ː￭ ə is the condition of urine containing white blood cells or p￭ us defined as the presence of 6 10 or more neu￭ troph￭ ils per high power field of un￭ sp￭ un vo￭ i￭ ded mid stream urine it can be a sign of a bacterial ur￭ inary tract infection py￭ ur￭ ia may be present in the se￭ ptic patient or in an older patient with pneumonia sterile py￭ ur￭ ia is urine which contains white blood cells while appearing sterile by standard cul￭ turing techniques it is often caused by sexually transmitted infections such as gon￭ or￭ rhe￭ a or viruses which will not grow in bacterial cultures sterile py￭ ur￭ ia is listed as a side effect from some medications such as par￭ acet￭ am￭ ol acet￭ amin￭ oph￭ en its occurrence is also associated with certain disease processes such as k￭ aw￭ as￭ aki disease and gen￭ it￭ our￭ inary tuberculosis however there are many known causes including systemic or infectious disease structural and physiological reasons intrinsic kidney path￭ ology or drugs
ur￭ inary in￭ contin￭ ence
ur￭ inary in￭ contin￭ ence ui also known as involuntary ur￭ ination is any leakage of urine it is a common and distressing problem which may have a large impact on quality of life ur￭ inary in￭ contin￭ ence is often a result of an underlying medical condition but is under reported to medical practitioners en￭ u￭ res￭ is is often used to refer to ur￭ inary in￭ contin￭ ence primarily in children such as no￭ c￭ tur￭ nal en￭ u￭ res￭ is bed we￭ tting there are four main types of in￭ contin￭ ence
dent s disease
dent s disease or dent disease is a rare x linked rec￭ essive inherited condition that affects the proxim￭ al ren￭ al tu￭ bul￭ es of the kidney it is one cause of fan￭ coni syndrome and is characterized by tu￭ bul￭ ar prote￭ in￭ ur￭ ia excess calcium in the urine formation of calcium kidney stones ne￭ ph￭ ro￭ cal￭ cin￭ osis and chronic kidney failure
benign pro￭ static hyper￭ pl￭ asia
benign pro￭ static hyper￭ pl￭ asia b￭ ph also called benign enlargement of the pro￭ state be￭ p or b￭ pe is a non￭ can￭ cer￭ ous increase in size of the pro￭ state b￭ ph involves hyper￭ pl￭ asia of pro￭ static st￭ rom￭ al and epi￭ the￭ li￭ al cells resulting in the formation of large fairly dis￭ crete no￭ d￭ ules in the transition zone of the pro￭ state when sufficiently large the no￭ d￭ ules imp￭ inge on the u￭ re￭ th￭ ra and increase resistance to flow of urine from the blad￭ der this is commonly referred to as obstruction although the u￭ re￭ th￭ ral lum￭ en is no less patent only compressed resistance to urine flow requires the blad￭ der to work harder during vo￭ i￭ ding possibly leading to progressive hyper￭ tro￭ phy instability or weakness at￭ ony of the blad￭ der muscle b￭ ph involves hyper￭ pl￭ asia an increase in the number of cells rather than
benign pro￭ static hyper￭ pl￭ asia b￭ ph also called benign enlargement of the pro￭ state be￭ p or b￭ pe is a non￭ can￭ cer￭ ous increase in size of the pro￭ state b￭ ph involves hyper￭ pl￭ asia of pro￭ static st￭ rom￭ al and epi￭ the￭ li￭ al cells resulting in the formation of large fairly dis￭ crete no￭ d￭ ules in the transition zone of the pro￭ state when sufficiently large the no￭ d￭ ules imp￭ inge on the u￭ re￭ th￭ ra and increase resistance to flow of urine from the blad￭ der this is commonly referred to as obstruction although the u￭ re￭ th￭ ral lum￭ en is no less patent only compressed resistance to urine flow requires the blad￭ der to work harder during vo￭ i￭ ding possibly leading to progressive hyper￭ tro￭ phy instability or weakness at￭ ony of the blad￭ der muscle b￭ ph involves hyper￭ pl￭ asia an increase in the number of cells rather than hyper￭ tro￭ phy a growth in the size of individual cells but the two terms are often used inter￭ change￭ ably even among u￭ ro￭ logists although pro￭ state specific antigen levels may be elevated in these patients because of increased organ volume and infl￭ amm￭ ation due to ur￭ inary tract infections b￭ ph does not lead to cancer or increase the risk of cancer aden￭ om￭ at￭ ous pro￭ static growth is believed to begin at approximately age 30 an estimated 50 of men have his￭ to￭ logic evidence of b￭ ph by age 50 and 75 by age 80 in 40 – 50 of these men b￭ ph becomes clin￭ ically significant b￭ ph was one of the ten most prominent and costly diseases in men older than 50 years of age in a study in the united states
pro￭ stati￭ tis
pro￭ stati￭ tis less commonly pro￭ stat￭ osis is infl￭ amm￭ ation of the pro￭ state g￭ land pro￭ stati￭ tis is classified into acute chronic as￭ ymp￭ tomatic infl￭ am￭ matory pro￭ stati￭ tis and chronic pel￭ vic pain syndrome in the united states pro￭ stati￭ tis is diagnosed in 8 percent of all u￭ ro￭ logist visits and 1 percent of all primary care physician visits
sper￭ mat￭ oce￭ le
sper￭ mat￭ oce￭ le sp￭ ɜ￭ ː￭ r￭ ˈ￭ m￭ æ￭ t￭ ə￭ si￭ ː￭ l is a retention cyst of a tu￭ bu￭ le of the re￭ te testi￭ s or the head of the epi￭ di￭ dy￭ mis dist￭ ended with barely wat￭ ery fluid that contains sper￭ mato￭ zo￭ a sper￭ mat￭ oc￭ el￭ es are the most common c￭ ys￭ tic condition encountered within the scro￭ tum they vary in size from several milli￭ meters to many centi￭ meters sper￭ mat￭ oc￭ el￭ es are generally not painful however some men may experience discomfort from larger sper￭ mat￭ oc￭ el￭ es they are harmless
tes￭ tic￭ ular tor￭ sion
tes￭ tic￭ ular tor￭ sion occurs when the sper￭ matic cord from which the tes￭ tic￭ le is suspended tw￭ ists cutting off the tes￭ tic￭ le s blood supply a condition called is￭ chem￭ ia the principal symptom is rapid onset of tes￭ tic￭ ular pain the most common underlying cause is a con￭ genital mal￭ formation known as a bell cl￭ app￭ er de￭ form￭ ity where￭ in the testi￭ s is inadequately affixed to the scro￭ tum allowing it to move freely on its axis and susceptible to induced tw￭ isting of the cord and its vessels
or￭ chi￭ tis
or￭ chi￭ tis ˌ￭ ɔ￭ ː￭ r￭ ˈ￭ ka￭ ɪ￭ t￭ ɪ￭ s or or￭ chi￭ di￭ tis ˌ￭ ɔ￭ ː￭ r￭ k￭ ɪ￭ ˈ￭ da￭ ɪ￭ t￭ ɪ￭ s from the ancient greek ὄ￭ ρ￭ χ￭ ις meaning tes￭ tic￭ le same root as orch￭ id is infl￭ amm￭ ation of the test￭ es it can also involve sw￭ elling heavy pains and frequent infection and is more rarely known as di￭ dy￭ miti￭ s as in epi￭ di￭ dy￭ mis
epi￭ di￭ dy￭ miti￭ s
epi￭ di￭ dy￭ miti￭ s is a medical condition characterized by discomfort or pain of the epi￭ di￭ dy￭ mis a cur￭ ved structure at the back of the tes￭ tic￭ le in which sperm mat￭ ures and is stored epi￭ di￭ dy￭ miti￭ s is usually characterized as either acute or chronic if acute the onset of tes￭ tic￭ ular pain is often accompanied by infl￭ amm￭ ation red￭ ness and warmth in the scro￭ tum if chronic pain may be the only symptom in either form tes￭ tic￭ ular pain in one or both test￭ es can vary from mild to severe and one or both epi￭ di￭ dy￭ mi￭ des may notic￭ e￭ ably swell infl￭ ame and or har￭ den ind￭ urate the pain is often cyclical and may last from less than an hour to several days
az￭ o￭ os￭ per￭ mia
az￭ o￭ os￭ per￭ mia is the medical condition of a man when sperm count is equal or less then 15 million ml in his semen it is associated with very low levels of fertility or even ster￭ ility but many forms are amenable to medical treatment in humans az￭ o￭ os￭ per￭ mia affects about 1 of the male population and may be seen in up to 20 of male in￭ fertility situations
asper￭ mia
asper￭ mia is the complete lack of semen with e￭ jac￭ ulation not to be confused with az￭ o￭ os￭ per￭ mia the lack of sperm cells in the semen it is associated with in￭ fertility one of the causes of asper￭ mia is retrograde e￭ jac￭ ulation which can be brought on by excessive drug use or as a result of pro￭ state surgery it can also be caused by alpha bloc￭ kers such as tam￭ sul￭ os￭ in and si￭ lo￭ do￭ sin
in￭ fertility
in￭ fertility is the inability of a person animal or plant to reproduce by natural means it is usually not the natural state of a healthy adult organism except notably among certain eus￭ o￭ cial species mostly hap￭ lo￭ diplo￭ id insects women who are fertile experience a natural period of fertility before and during ov￭ ulation and they are naturally in￭ fertile during the rest of the men￭ str￭ ual cycle fertility awareness methods are used to discern when these changes occur by tracking changes in cer￭ vic￭ al m￭ uc￭ us or bas￭ al body temperature
in￭ fertility is the inability of a person animal or plant to reproduce by natural means it is usually not the natural state of a healthy adult organism except notably among certain eus￭ o￭ cial species mostly hap￭ lo￭ diplo￭ id insects in humans in￭ fertility may describe a woman who is unable to conceive as well as being unable to carry a pregnancy to full term there are many biological and other causes of in￭ fertility including some that medical intervention can treat estimates from 1997 suggest that worldwide between three and seven per cent of all couples or women have an unresolved problem of in￭ fertility many more couples however experience involuntary child￭ lessness for at least one year estimates range from 12 to 28 20 30 of in￭ fertility cases are due to male in￭ fertility 20 35 are due to female in￭ fertility and 25 40 are due to combined problems in both parts in 10 20 of cases no cause is found the most common cause of female in￭ fertility is o￭ vul￭ atory problems which generally manifest themselves by spar￭ se or absent men￭ str￭ ual periods male in￭ fertility is most commonly due to deficiencies in the semen and semen quality is used as a sur￭ rogate measure of male f￭ ec￭ und￭ ity women who are fertile experience a natural period of fertility before and during ov￭ ulation and they are naturally in￭ fertile during the rest of the men￭ str￭ ual cycle fertility awareness methods are used to discern when these changes occur by tracking changes in cer￭ vic￭ al m￭ uc￭ us or bas￭ al body temperature
ph￭ im￭ osis
ph￭ im￭ osis is a condition of the penis where the fores￭ kin cannot be fully re￭ tracted over the gl￭ ans penis the term may also refer to cl￭ it￭ oral ph￭ im￭ osis in women whereby the cl￭ it￭ oral hood cannot be re￭ tracted limiting exposure of the gl￭ ans cl￭ it￭ ori￭ dis at birth the fores￭ kin is f￭ used to the gl￭ ans and is not re￭ tractable for some males non re￭ trac￭ tability may be normal until the age of adoles￭ cence
ph￭ im￭ osis is a condition of the penis where the fores￭ kin cannot be fully re￭ tracted over the gl￭ ans penis the term may also refer to cl￭ it￭ oral ph￭ im￭ osis in women whereby the cl￭ it￭ oral hood cannot be re￭ tracted limiting exposure of the gl￭ ans cl￭ it￭ ori￭ dis at birth the fores￭ kin is f￭ used to the gl￭ ans and is not re￭ tractable for some males non re￭ trac￭ tability may be normal until the age of adoles￭ cence normal developmental non re￭ trac￭ tability does not cause any problems ph￭ im￭ osis is deemed pathological when it causes problems such as difficulty ur￭ inating or performing common sexual functions there are numerous causes of so called pathological ph￭ im￭ osis non￭ surgical treatment involves the stretching of the fores￭ kin ster￭ o￭ id cre￭ ams and changing ma￭ st￭ urb￭ ation habits surgical treatments include pre￭ pu￭ ti￭ op￭ la￭ sty and circumcision the word is from the greek ph￭ im￭ os φ￭ ῑ￭ μ￭ ός mu￭ zzle
par￭ ap￭ him￭ osis
par￭ ap￭ him￭ osis ˌ￭ p￭ ær￭ ə￭ fa￭ ɪ￭ ˈ￭ mo￭ ʊ￭ s￭ ᵻ￭ s or ˌ￭ p￭ ær￭ ə￭ f￭ ə￭ ˈ￭ mo￭ ʊ￭ s￭ ᵻ￭ s is an un￭ common medical condition in which the fores￭ kin of an un￭ circum￭ c￭ ised penis becomes trapped behind the gl￭ ans penis and cannot be reduced pulled back to its normal fl￭ acci￭ d position covering the gl￭ ans if this condition persists for several hours or there is any sign of a lack of blood flow par￭ ap￭ him￭ osis should be treated as a medical emergency as it can result in gang￭ rene
balan￭ i￭ tis
pri￭ ap￭ ism
pri￭ ap￭ ism is a medical condition in which the er￭ ect penis does not return to its fl￭ acci￭ d state despite the absence of both physical and psychological stimulation within four hours pri￭ ap￭ ism is potentially painful and is considered a medical emergency which should receive proper treatment by a qualified medical practitioner there are two types of pri￭ ap￭ ism low flow is￭ chem￭ ic and high flow non￭ is￭ chem￭ ic 80 to 90 of clin￭ ically presented pri￭ ap￭ isms are low flow disorders low flow involves the blood not adequately returning to the body from the penis high flow involves a short circuit of the vascular system part￭ way along the penis treatment is different for each type early treatment can be beneficial for a functional recovery
pri￭ ap￭ ism is a medical condition in which the er￭ ect penis does not return to its fl￭ acci￭ d state despite the absence of both physical and psychological stimulation within four hours pri￭ ap￭ ism is potentially painful and is considered a medical emergency which should receive proper treatment by a qualified medical practitioner there are two types of pri￭ ap￭ ism low flow is￭ chem￭ ic and high flow non￭ is￭ chem￭ ic 80 to 90 of clin￭ ically presented pri￭ ap￭ isms are low flow disorders low flow involves the blood not adequately returning to the body from the penis high flow involves a short circuit of the vascular system part￭ way along the penis treatment is different for each type early treatment can be beneficial for a functional recovery not all sources give four hours as the guideline for pri￭ ap￭ ism occurring the duration time of a normal er￭ ection before it is classifiable as pri￭ ap￭ ism is still controversial ongoing pen￭ ile er￭ ections for more than 6 hours can be classified as pri￭ ap￭ ism
pe￭ y￭ ron￭ ie s disease
pe￭ y￭ ron￭ ie s disease or pe￭ y￭ ron￭ ie disease pe￭ ɪ￭ ro￭ ʊ￭ ˈ￭ ni￭ ː also known as ind￭ ur￭ ati￭ o penis plas￭ tica ip￭ p or chronic infl￭ amm￭ ation of the tun￭ ica albu￭ gin￭ ea c￭ ita is a connec￭ tive tissue disorder involving the growth of fi￭ bro￭ us pl￭ aqu￭ es in the soft tissue of the penis affecting an estimated 5 of men specifically scar tissue forms in the tun￭ ica albu￭ gin￭ ea the thick she￭ ath of tissue surrounding the corpor￭ a ca￭ ver￭ no￭ sa causing pain abnormal cur￭ v￭ ature er￭ ec￭ tile dysfunction ind￭ entation loss of gir￭ th and shortening a variety of treatments have been used but none have been especially effective
fren￭ ul￭ um bre￭ ve
fren￭ ul￭ um bre￭ ve or short fren￭ ul￭ um is a condition in which the fren￭ ul￭ um of the penis which is an elastic band of tissue under the gl￭ ans penis that connects to the fores￭ kin and helps contract it over the gl￭ ans is too short and thus restricts the movement of the fores￭ kin the fren￭ ul￭ um should normally be sufficiently long and sup￭ ple to allow for the full re￭ traction of the fores￭ kin so that it lies smoothly back on the shaft of the er￭ ect penis
fren￭ ul￭ um bre￭ ve or short fren￭ ul￭ um is a condition in which the fren￭ ul￭ um of the penis which is an elastic band of tissue under the gl￭ ans penis that connects to the fores￭ kin and helps contract it over the gl￭ ans is too short and thus restricts the movement of the fores￭ kin the fren￭ ul￭ um should normally be sufficiently long and sup￭ ple to allow for the full re￭ traction of the fores￭ kin so that it lies smoothly back on the shaft of the er￭ ect penis the pen￭ ile fren￭ ul￭ um is comparable to the tongue s fren￭ ul￭ um between the tongue s lower surface and the lower jaw or the fren￭ ul￭ um between the upper lip and the outside of the upper gum
hir￭ su￭ ties coron￭ ae g￭ land￭ is
hir￭ su￭ ties coron￭ ae g￭ land￭ is also known as hir￭ su￭ to￭ id pap￭ il￭ lom￭ as and pe￭ arly pen￭ ile pap￭ ules are small pro￭ tuber￭ ances that may form on the ridge of the gl￭ ans of the human penis they are a harmless anatom￭ ical variation though sometimes confused with h￭ p￭ v infection the pap￭ ules are not a sexually transmitted infection and are not contagious
hir￭ su￭ ties coron￭ ae g￭ land￭ is also known as hir￭ su￭ to￭ id pap￭ il￭ lom￭ as and pe￭ arly pen￭ ile pap￭ ules are small pro￭ tuber￭ ances that may form on the ridge of the gl￭ ans of the human penis they are a harmless anatom￭ ical variation though sometimes confused with h￭ p￭ v infection the pap￭ ules are not a sexually transmitted infection and are not contagious the pap￭ ules appear as one or several rows of small pe￭ arly or flesh colored smooth dom￭ e top￭ ped bu￭ mps situated circum￭ fer￭ entially around the cor￭ ona or sul￭ cus of the gl￭ ans they may range in size from less than 1 mm to 3 mm as of 1999 different studies have produced estimates of incidence ranging from 8 to 48 percent of all men studies suggest that it occurs more often on younger men and those who have not been circum￭ c￭ ised one study found them in 33 3 of males who had not been circum￭ c￭ ised and in 7 1 of circum￭ c￭ ised males hir￭ su￭ ties coron￭ ae g￭ land￭ is are sometimes described as vesti￭ gi￭ al remnants of pen￭ ile sp￭ ines sensitive features found in the same location in other pri￭ mates in species which retain the full expression of pen￭ ile sp￭ ines the sp￭ ines contribute to sexual pleasure and quicker org￭ as￭ ms a similar expression vesti￭ bul￭ ar pap￭ il￭ lo￭ mat￭ osis of the vul￭ va or hir￭ su￭ ties pap￭ il￭ lar￭ is vul￭ v￭ ae occurs in females and similarly can be misinterpreted as an outbreak of the h￭ p￭ v infection like hir￭ su￭ ties pap￭ il￭ lar￭ is gen￭ ital￭ is it is a normal variation on human anatomy
four￭ nier gang￭ rene
e￭ jac￭ ul￭ atory duc￭ t obstruction
e￭ jac￭ ul￭ atory duc￭ t obstruction edo is a con￭ genital or acquired pathological condition which is characterized by the obstruction of one or both e￭ jac￭ ul￭ atory duc￭ ts thus the efflu￭ x of most constituents of semen is not possible it is a cause of male in￭ fertility and or pel￭ vic pain e￭ jac￭ ul￭ atory duc￭ t obstruction must not be confused with an obstruction of the vas defer￭ ens
retrograde e￭ jac￭ ulation
retrograde e￭ jac￭ ulation occurs when semen which would in most cases be e￭ jac￭ ulated via the u￭ re￭ th￭ ra is redirected to the ur￭ inary blad￭ der normally the sp￭ h￭ inc￭ ter of the blad￭ der contracts before e￭ jac￭ ulation forcing the semen to exit via the u￭ re￭ th￭ ra the path of least resistance when the blad￭ der sp￭ h￭ inc￭ ter does not function properly retrograde e￭ jac￭ ulation may occur it can also be induced deliberately by a male as a primitive form of male birth control known as co￭ it￭ us sax￭ on￭ ic￭ us or as part of certain alternative medicine practices
breast cyst
a breast cyst is a fluid filled s￭ ac within the breast one breast can have one or more breast cy￭ sts they are often described as round or o￭ val lum￭ ps with distinct edges in tex￭ ture a breast cyst usually feels like a soft grape or a water filled balloon but sometimes a breast cyst feels firm breast cy￭ sts are not to be confused with milk cy￭ sts galac￭ to￭ cel￭ es which usually appear during we￭ aning
a breast cyst is a fluid filled s￭ ac within the breast one breast can have one or more breast cy￭ sts they are often described as round or o￭ val lum￭ ps with distinct edges in tex￭ ture a breast cyst usually feels like a soft grape or a water filled balloon but sometimes a breast cyst feels firm breast cy￭ sts can be painful and may be worrisome but are generally benign they are most common in pre men￭ opa￭ usal women in their 30 s or 40 s they usually disappear after men￭ op￭ ause but may persist or re￭ appear when using hormone therapy they are also common in adolescents breast cy￭ sts can be part of fi￭ bro￭ c￭ ys￭ tic disease the pain and sw￭ elling is usually worse in the second half of the men￭ str￭ ual cycle or during pregnancy treating breast cy￭ sts is usually not necessary unless they are painful or cause discomfort in most cases the discomfort they cause may be allevi￭ ated by draining the fluid from the cyst the cy￭ sts form as a result of the growth of the milk g￭ lands and their size may range from smaller than a pea to larger than a ping p￭ ong ball small cy￭ sts cannot be felt during a physical examination and some large cy￭ sts feel like lum￭ ps however most cy￭ sts regardless of their size cannot be identified during physical exam￭ s breast cy￭ sts are not to be confused with milk cy￭ sts galac￭ to￭ cel￭ es which usually appear during we￭ aning
fi￭ bro￭ c￭ ys￭ tic breast changes
fi￭ bro￭ c￭ ys￭ tic breasts or fi￭ bro￭ c￭ ys￭ tic breast disease or fi￭ bro￭ c￭ ys￭ tic breast condition commonly referred to as f￭ bc is a condition of breast tissue affecting an estimated 30 60 of women and at least 50 of women of child￭ bearing age some studies indicate that the lifetime prevalence of f￭ bc may be as high as 70 to 90 it is characterized by non￭ can￭ cer￭ ous breast lum￭ ps which can sometimes cause discomfort often periodically related to hormonal influences from the men￭ str￭ ual cycle
mas￭ ti￭ tis
mas￭ ti￭ tis also called mam￭ miti￭ s is infl￭ amm￭ ation of breast or u￭ dder tissue usually due to infection stap￭ hy￭ lo￭ co￭ cc￭ us au￭ re￭ us is the most common pathogen responsible but s ep￭ id￭ er￭ mid￭ is and st￭ rep￭ to￭ coc￭ ci are occasionally isolated as well early stages of mas￭ ti￭ tis can present with local pain red￭ ness sw￭ elling and warmth later stages also present with systemic symptoms like fever and flu like symptoms and in rare cases an abs￭ c￭ ess can develop however it is pretty common that symptoms develop very quickly without any warning mas￭ ti￭ tis in dairy cattle has substantial economic importance in d￭ air￭ ying
gy￭ ne￭ com￭ as￭ tia
gy￭ ne￭ com￭ as￭ tia is a common disorder of the endocrine system in which there is a non can￭ cer￭ ous increase in the size of male breast tissue most adoles￭ cent boys up to 70 have some breast development during pu￭ ber￭ ty new￭ born and adoles￭ cent males often experience temporary gy￭ ne￭ com￭ as￭ tia due to the influence of maternal hormones and hormonal changes during pu￭ ber￭ ty respectively
breast hyper￭ tro￭ phy
hyper￭ tro￭ phy of the breast macro￭ mas￭ tia and gigan￭ tom￭ as￭ tia is a rare medical condition of the breast connec￭ tive tissues the indication is a breast weight that exceeds approximately 3 of the total body weight there are varying definitions of what is considered to be excessive breast tissue that is the expected breast tissue plus extraordinary breast tissue ranging from as little as 0 6 kilograms 1 3 lb up to 2 5 kilograms 5 5 lb with most physicians defining macro￭ mas￭ tia as excessive tissue of over 1 5 kilograms 3 3 lb some resources distinguish between macro￭ mas￭ tia greek macro large ma￭ st￭ os breast where excessive tissue is less than 2 5 kg and gigan￭ tom￭ as￭ tia greek gig￭ anti￭ kos giant where excessive tissue is more than 2 5 kg the enlargement can cause muscular discomfort
hyper￭ tro￭ phy of the breast macro￭ mas￭ tia and gigan￭ tom￭ as￭ tia is a rare medical condition of the breast connec￭ tive tissues the indication is a breast weight that exceeds approximately 3 of the total body weight there are varying definitions of what is considered to be excessive breast tissue that is the expected breast tissue plus extraordinary breast tissue ranging from as little as 0 6 kilograms 1 3 lb up to 2 5 kilograms 5 5 lb with most physicians defining macro￭ mas￭ tia as excessive tissue of over 1 5 kilograms 3 3 lb some resources distinguish between macro￭ mas￭ tia greek macro large ma￭ st￭ os breast where excessive tissue is less than 2 5 kg and gigan￭ tom￭ as￭ tia greek gig￭ anti￭ kos giant where excessive tissue is more than 2 5 kg the enlargement can cause muscular discomfort and over stretching of the skin envelope which can lead in some cases to ul￭ cer￭ ation hyper￭ tro￭ phy of the breast tissues might be caused by increased his￭ to￭ logic sensitivity to certain hormones such as female sex hormones pro￭ l￭ acti￭ n and growth factors or an abnormally elevated hormone s level in the blood or both breast hyper￭ tro￭ phy is a benign progressive enlargement which can occur in both breasts bilateral or only in one breast unilateral it was first scientifically described in 16￭ 48
galac￭ tor￭ rhe￭ a
breast pain
breast pain also known as breast tender￭ ness ma￭ st￭ od￭ y￭ nia mam￭ mal￭ gia and ma￭ stal￭ gia from the greek μ￭ α￭ στ￭ ός ma￭ st￭ os breast and ἄ￭ λ￭ γ￭ ος al￭ gos pain is a medical symptom pain and discomfort may range from minor to severely incapac￭ itating breast pain during lac￭ tation or after we￭ aning is not included into this definition but is usually classified as breast eng￭ org￭ ement or mas￭ ti￭ tis
inver￭ ted nip￭ ple
an inver￭ ted nip￭ ple occasionally inv￭ ag￭ inated nip￭ ple is a condition where the nip￭ ple instead of pointing outward is re￭ tracted into the breast in some cases the nip￭ ple will be temporarily pro￭ tru￭ ded if stimulated women and men can have inver￭ ted nip￭ ples
sal￭ p￭ ing￭ i￭ tis
end￭ ome￭ tri￭ tis
end￭ ome￭ tri￭ tis is infl￭ amm￭ ation of the end￭ ome￭ tri￭ um the inner lining of the uter￭ us patho￭ logists have traditionally classified end￭ ome￭ tri￭ tis as either acute or chronic acute end￭ ome￭ tri￭ tis is characterized by the presence of micro￭ abs￭ c￭ esses or neu￭ troph￭ ils within the end￭ ome￭ trial g￭ lands while chronic end￭ ome￭ tri￭ tis is distinguished by variable numbers of plasma cells within the end￭ ome￭ trial st￭ roma the most common cause of end￭ ome￭ tri￭ tis is infection symptoms include lower ab￭ domin￭ al pain fever and abnormal vag￭ inal bleeding or discharge ca￭ es￭ are￭ an section prolonged rupture of memb￭ ran￭ es and long labor with multiple vag￭ inal examinations are important risk factors treatment is usually with broad spectrum antibiotics
py￭ ome￭ tra
py￭ ome￭ tra or py￭ ome￭ tre￭ a is a uter￭ ine infection though it is most commonly known as a disease of the unaltered female dog it is also a notable human disease it is also seen in female cats queens rabbits ham￭ sters ferre￭ ts rats and guinea pigs py￭ ome￭ tra is an important disease to be aware of for any dog owner because of the sudden nature of the disease and the deadly consequences if left untreated it has been compared to acute append￭ ic￭ i￭ tis in humans because both are essentially emp￭ y￭ emas within an ab￭ domin￭ al organ
cer￭ vic￭ i￭ tis
cer￭ vic￭ i￭ tis is infl￭ amm￭ ation of the uter￭ ine cer￭ vi￭ x cer￭ vic￭ i￭ tis in women has many features in common with u￭ re￭ thri￭ tis in men and many cases are caused by sexually transmitted infections death may occur non infectious causes of cer￭ vic￭ i￭ tis can include in￭ trau￭ ter￭ ine devices contrac￭ eptive di￭ aphr￭ ag￭ ms and allergic reactions to sper￭ mic￭ ides or lat￭ ex condoms the condition is often confused with vag￭ in￭ is￭ mus which is a much simpler condition and easily rectified with simple exercises
bar￭ th￭ olin s cyst
a bar￭ th￭ olin s cyst also known as bar￭ th￭ ol￭ initi￭ s occurs when a bar￭ th￭ olin s g￭ land is blocked and the g￭ land becomes infl￭ amed sizes range from that of a pea to that of an egg and form just within each side of the lower part of the opening of the vag￭ ina an abs￭ c￭ ess may form if the cyst becomes infected in this case it often becomes red and painful when touched bar￭ th￭ olin s cy￭ sts are most likely in women of child￭ bearing age about two percent of women have the problem at some point in their life
bacterial vag￭ in￭ osis
bacterial vag￭ in￭ osis bv is a disease of the vag￭ ina caused by excessive growth of bacteria common symptoms include increased vag￭ inal discharge that often smells like fish the discharge is usually white or gray in color burning with ur￭ ination may occur it￭ ching is un￭ common occasionally there may be no symptoms having bv approximately dou￭ bles the risk of infection by a number of other sexually transmitted infections including hiv aids it also increases the risk of early delivery among pregnant women
vag￭ initi￭ s
vag￭ initi￭ s also known as vag￭ inal infection and vul￭ vo￭ vag￭ initi￭ s is an infl￭ amm￭ ation of the vag￭ ina and possible vul￭ va it can result in discharge it￭ ching and pain and is often associated with an irritation or infection of the vul￭ va infected women may also be as￭ ymp￭ tomatic
end￭ ome￭ tri￭ osis
end￭ ome￭ tri￭ osis is a disease in which tissue that normally grows inside the uter￭ us grows outside it the main symptoms are pel￭ vic pain and in￭ fertility nearly half of those affected have chronic pel￭ vic pain while in 70 pain occurs during men￭ str￭ uation pain during sex is also common in￭ fertility occurs in up to half of women affected less common symptoms include ur￭ inary or bo￭ wel symptoms about 25 of women have no symptoms end￭ ome￭ tri￭ osis can have both social and psychological effects
end￭ ome￭ tri￭ osis is a disease in which tissue that normally grows inside the uter￭ us grows outside it the main symptoms are pel￭ vic pain and in￭ fertility nearly half of those affected have chronic pel￭ vic pain while in 70 pain occurs during men￭ str￭ uation pain during sex is also common in￭ fertility occurs in up to half of women affected less common symptoms include ur￭ inary or bo￭ wel symptoms about 25 of women have no symptoms end￭ ome￭ tri￭ osis can have both social and psychological effects the cause is not entirely clear risk factors include having a family history of the condition most often the ov￭ aries fall￭ op￭ ian tubes and tissue around the uter￭ us and ov￭ aries are affected however in rare cases it may also occur in other parts of the body the areas of end￭ ome￭ tri￭ osis bleed each month resulting in infl￭ amm￭ ation and scar￭ ring the grow￭ ths due to end￭ ome￭ tri￭ osis are not cancer diagnosis is usually based on symptoms in combination with medical imaging biopsy is the most sure method of diagnosis other causes of similar symptoms include pel￭ vic infl￭ am￭ matory disease irrit￭ able bo￭ wel syndrome inter￭ sti￭ tial cy￭ sti￭ tis and fi￭ bro￭ my￭ al￭ gia tentative evidence suggests that the use of combined oral contrac￭ ep￭ tives reduces the risk of end￭ ome￭ tri￭ osis exercise and avoiding large amounts of alcohol may also be preventative there is no cure for end￭ ome￭ tri￭ osis but a number of treatments may improve symptoms this may include pain medication hormonal treatments or surgery the recommended pain medication is usually an n￭ said such as na￭ pro￭ x￭ en taking the active component of the birth control pill continuously or using an in￭ trau￭ ter￭ ine device with prog￭ est￭ o￭ gen may also be useful gon￭ ad￭ o￭ tro￭ pin releasing hormone agon￭ ist may improve the ability of those who are in￭ fertile to get pregnant surgical removal of end￭ ome￭ tri￭ osis may be used to treat those whose symptoms are not manageable with other treatments end￭ ome￭ tri￭ osis is estimated to occur in roughly 6 – 10 of women it is most common in those in their thir￭ ties and for￭ ties however can begin in girls as early as 8 years old it results in few deaths with this being estimated at 200 globally in 2013 end￭ ome￭ tri￭ osis was first determined to be a separate condition in the 1920 s before that time end￭ ome￭ tri￭ osis and aden￭ om￭ y￭ osis were considered together it is unclear who first described the disease
female genital pro￭ lapse
female genital pro￭ lapse or vag￭ inal pro￭ lapse or pel￭ vic organ pro￭ lapse is characterized by a portion of the vag￭ inal canal pro￭ tru￭ ding pro￭ lap￭ sing from the opening of the vag￭ ina the condition usually occurs when the pel￭ vic floor collapses as a result of childbirth or heavy lifting which can tear soft tissues i e her￭ ni￭ ating fas￭ cia memb￭ ran￭ es so that the vag￭ inal wall collapses resulting in cy￭ sto￭ ce￭ le rec￭ to￭ ce￭ le or both remedi￭ ation typically involves dietary and lifestyle changes physical therapy or surgery
cy￭ sto￭ ce￭ le
a cy￭ sto￭ ce￭ le ˈ￭ s￭ ɪ￭ st￭ ə￭ si￭ ː￭ l sis t￭ ə se￭ el is a medical condition that occurs when the tough fi￭ bro￭ us wall between a woman s blad￭ der and her vag￭ ina the pu￭ bo￭ cer￭ vic￭ al fas￭ cia is torn by childbirth allowing the blad￭ der to her￭ ni￭ ate into the vag￭ ina u￭ re￭ thro￭ cel￭ es often occur with cy￭ stoc￭ el￭ es
uter￭ ine pro￭ lapse
rec￭ to￭ ce￭ le
a rec￭ to￭ ce￭ le ˈ￭ r￭ ɛ￭ kt￭ ə￭ si￭ ː￭ l rek t￭ ə se￭ el results from a tear in the rec￭ to￭ vag￭ inal sep￭ tum which is normally a tough fi￭ bro￭ us sheet like divi￭ der between the rec￭ tum and vag￭ ina rec￭ tal tissue bul￭ ges through this tear and into the vag￭ ina as a her￭ nia there are two main causes of this tear childbirth and hyster￭ ec￭ tomy
ve￭ si￭ co￭ vag￭ inal f￭ ist￭ ula
ve￭ si￭ co￭ vag￭ inal f￭ ist￭ ula v￭ v￭ f is a subtype of female u￭ ro￭ genital f￭ ist￭ ula ug￭ f
rec￭ to￭ vag￭ inal f￭ ist￭ ula
a rec￭ to￭ vag￭ inal f￭ ist￭ ula is a medical condition where there is a f￭ ist￭ ula or abnormal connection between the rec￭ tum and the vag￭ ina rec￭ to￭ vag￭ inal f￭ ist￭ ula may be extremely deb￭ il￭ itating if the opening between the rec￭ tum and vag￭ ina is wide it will allow both flat￭ ul￭ ence and f￭ ec￭ es to escape through the vag￭ ina leading to f￭ ec￭ al in￭ contin￭ ence there is an association with recurrent ur￭ inary and vag￭ inal infections this type of f￭ ist￭ ula can cause pedi￭ at￭ ric￭ ians to mis￭ diagnose imper￭ for￭ ate an￭ us the severity of the symptoms will depend on the size of f￭ ist￭ ula most often it appears after about one week or so after delivery
o￭ vari￭ an cyst
an o￭ vari￭ an cyst is a fluid filled s￭ ac within the o￭ vary often they cause no symptoms occasionally they may produce blo￭ ating lower ab￭ domin￭ al pain or lower back pain if the cyst either breaks open or causes tw￭ isting of the o￭ vary severe pain may occur this may result in v￭ om￭ iting or feeling faint the majority of cy￭ sts are however harmless most women of reproductive age develop small cy￭ sts each month large cy￭ sts that cause problems occur in about 8 of women before men￭ op￭ ause o￭ vari￭ an cy￭ sts are present in about 16 of women after men￭ op￭ ause and if present are more likely to be cancer
o￭ vari￭ an tor￭ sion
o￭ vari￭ an tor￭ sion accounts for about 3 of gy￭ ne￭ co￭ logic emergencies the incidence of o￭ vari￭ an tor￭ sion among women of all ages is 5 9 per 100 000 women and the incidence among women of reproductive age 15 – 45 years is 9 9 per 100 000 women in 70 of cases it is diagnosed in women between 20 and 39 years of age the risk is greater during pregnancy and in men￭ op￭ ause risk factors include increased length of the o￭ vari￭ an lig￭ aments patho￭ logically enlarged ov￭ aries more than 6 cm o￭ vari￭ an masses or cy￭ sts and enlarged corpus lu￭ t￭ eu￭ m in pregnancy
end￭ ome￭ trial hyper￭ pl￭ asia
end￭ ome￭ trial hyper￭ pl￭ asia is a condition of excessive proliferation of the cells of the end￭ ome￭ tri￭ um or inner lining of the uter￭ us most cases of end￭ ome￭ trial hyper￭ pl￭ asia result from high levels of est￭ rog￭ ens combined with insufficient levels of the prog￭ est￭ er￭ one like hormones which ordinarily counteract estro￭ gen s prolifer￭ ative effects on this tissue this may occur in a number of settings including obesity poly￭ c￭ ys￭ tic o￭ vary syndrome estro￭ gen producing tum￭ ours e g gran￭ ul￭ osa cell tum￭ our and certain formulations of estro￭ gen replacement therapy end￭ ome￭ trial hyper￭ pl￭ asia is a significant risk factor for the development or even co existence of end￭ ome￭ trial cancer so careful monitoring and treatment of women with this disorder is essential
as￭ herman s syndrome
as￭ herman syndrome as or fr￭ it￭ sch syndrome is a condition characterized by adhe￭ sions and or fi￭ bro￭ sis of the end￭ ome￭ tri￭ um particularly but can also affect the my￭ ome￭ tri￭ um it is often associated with dil￭ ation and cu￭ re￭ tt￭ age of the in￭ trau￭ ter￭ ine cav￭ ity a number of other terms have been used to describe the condition and related conditions including in￭ trau￭ ter￭ ine adhe￭ sions i￭ ua uter￭ ine cer￭ vic￭ al at￭ re￭ sia traumatic uter￭ ine atro￭ phy s￭ cl￭ erotic end￭ ome￭ tri￭ um end￭ ome￭ trial sclerosis and in￭ trau￭ ter￭ ine sy￭ nec￭ hi￭ ae
cer￭ vic￭ al ec￭ tro￭ p￭ ion
cer￭ vic￭ al ec￭ tro￭ p￭ ion or cer￭ vic￭ al ever￭ sion is a condition in which the central endo￭ cer￭ vic￭ al colum￭ nar epi￭ the￭ lium pro￭ tru￭ des out through the external os of the cer￭ vi￭ x and onto the vag￭ inal portion of the cer￭ vi￭ x under￭ goes squ￭ am￭ ous met￭ ap￭ la￭ sia and trans￭ forms to str￭ ati￭ fied squ￭ am￭ ous epi￭ the￭ lium although not an ab￭ normality it is in￭ distingu￭ ishable from early cer￭ vic￭ al cancer therefore further diagnostic studies e g p￭ ap sme￭ ar biopsy must be performed for a differential diagnosis
n￭ abo￭ th￭ ian cyst
hem￭ ato￭ col￭ pos
hem￭ ato￭ col￭ pos is a medical condition in which the vag￭ ina fills with men￭ str￭ ual blood it is often caused by the combination of men￭ str￭ uation with an imper￭ for￭ ate hy￭ men it is sometimes seen in ro￭ bin￭ ow syndrome uter￭ us di￭ del￭ ph￭ ys or other con￭ genital conditions a related disorder is hem￭ atom￭ e￭ tra where the uter￭ us fills with men￭ str￭ ual blood it presents after pu￭ ber￭ ty as primary amen￭ or￭ rho￭ ea recurrent pel￭ vic pain with a pel￭ vic mass this can be caused by a con￭ genital sten￭ osis of the cer￭ vi￭ x or by a complic￭ ation of a surgical treatment
kr￭ au￭ ro￭ sis vul￭ v￭ ae
kr￭ au￭ ro￭ sis vul￭ v￭ ae is a cu￭ taneous condition characterized by atro￭ phy and shr￭ ink￭ age of the skin of the vag￭ ina and vul￭ va often accompanied by a chronic infl￭ am￭ matory reaction in the deeper tissues
cl￭ it￭ or￭ om￭ eg￭ al￭ y
cl￭ it￭ or￭ om￭ eg￭ al￭ y or macro￭ cl￭ it￭ or￭ is is an abnormal enlargement of the cl￭ it￭ or￭ is that is mostly con￭ genital or acquired though deliberately induced cl￭ it￭ or￭ is enlargement as a form of female genital body modification is achieved through various uses of an￭ abol￭ ic ster￭ oids including te￭ sto￭ ster￭ one and may also be referred to as cl￭ it￭ or￭ om￭ eg￭ al￭ y cl￭ it￭ or￭ om￭ eg￭ al￭ y is not the same as normal enlargement of the cl￭ it￭ or￭ is seen during sexual ar￭ ous￭ al
amen￭ or￭ rho￭ ea
amen￭ or￭ rho￭ ea be amen￭ or￭ rhe￭ a ame or amen￭ or￭ rh￭ œ￭ a is the absence of a men￭ str￭ ual period in a woman of reproductive age physiological states of amen￭ or￭ rho￭ ea are seen most commonly during pregnancy and lac￭ tation breastfeeding the latter also forming the basis of a form of contraception known as the lact￭ ational amen￭ or￭ rho￭ ea method outside of the reproductive years there is absence of m￭ enses during childhood and after men￭ op￭ ause
olig￭ omen￭ or￭ rhe￭ a
olig￭ omen￭ or￭ rhe￭ a or olig￭ omen￭ or￭ rho￭ ea is inf￭ requ￭ ent or in occasional usage very light men￭ str￭ uation more strictly it is men￭ str￭ ual periods occurring at intervals of greater than 35 days with only four to nine periods in a year also men￭ str￭ ual periods should have been regularly established previously before the development of inf￭ requ￭ ent flow the duration of such events may vary
metr￭ or￭ rha￭ gia
metr￭ or￭ rha￭ gia metro wom￭ b r￭ rha￭ gia excessive flow is uter￭ ine bleeding at irregular intervals particularly between the expected men￭ str￭ ual periods in some women men￭ str￭ ual spo￭ tting between periods occurs as a normal and harmless part of ov￭ ulation some women experience acute mid cycle ab￭ domin￭ al pain around the time of ov￭ ulation sometimes referred to by the german term for this phenomenon mittel￭ sch￭ mer￭ z this may also occur at the same time as men￭ str￭ ual spo￭ tting the term breakthrough bleeding or breakthrough spo￭ tting is usually used for women using hormonal contrac￭ ep￭ tives such as iu￭ ds or oral contrac￭ ep￭ tives in which it refers to bleeding or spo￭ tting between any expected withdrawal ble￭ edings or bleeding or spo￭ tting at any time if none is expected if spo￭ tting continues beyond the
metr￭ or￭ rha￭ gia metro wom￭ b r￭ rha￭ gia excessive flow is uter￭ ine bleeding at irregular intervals particularly between the expected men￭ str￭ ual periods in some women men￭ str￭ ual spo￭ tting between periods occurs as a normal and harmless part of ov￭ ulation some women experience acute mid cycle ab￭ domin￭ al pain around the time of ov￭ ulation sometimes referred to by the german term for this phenomenon mittel￭ sch￭ mer￭ z this may also occur at the same time as men￭ str￭ ual spo￭ tting the term breakthrough bleeding or breakthrough spo￭ tting is usually used for women using hormonal contrac￭ ep￭ tives such as iu￭ ds or oral contrac￭ ep￭ tives in which it refers to bleeding or spo￭ tting between any expected withdrawal ble￭ edings or bleeding or spo￭ tting at any time if none is expected if spo￭ tting continues beyond the first three cycles of oral contrac￭ eptive use a woman should have her prescription changed to a pill containing either more estro￭ gen or more prog￭ est￭ er￭ one besides the aforementioned physi￭ o￭ logic forms metr￭ or￭ rha￭ gia may also represent abnormal uter￭ ine bleeding and be a sign of an underlying disorder such as hormone imbalance end￭ ome￭ tri￭ osis uter￭ ine fi￭ bro￭ ids uter￭ ine cancer or vag￭ inal cancer if the bleeding is repeated and heavy it can cause significant iron deficiency an￭ emia
mittel￭ sch￭ mer￭ z
pre￭ men￭ str￭ ual syndrome
pre￭ men￭ str￭ ual syndrome p￭ ms refers to physical and emotional symptoms that occur in the one to two weeks before a woman s period symptoms often vary between women and resolve around the start of bleeding common symptoms include ac￭ ne tender breasts blo￭ ating feeling tired irrit￭ ability and mood changes often symptoms are present for around six days a woman s pattern of symptoms may change over time symptoms do not occur during pregnancy or following men￭ op￭ ause
dy￭ sm￭ en￭ or￭ rhe￭ a
dy￭ sm￭ en￭ or￭ rhe￭ a also known as dy￭ sm￭ en￭ or￭ rho￭ ea painful periods or men￭ str￭ ual cram￭ ps is pain during men￭ str￭ uation it usually begins around the time that men￭ str￭ uation begins symptoms typically last less than three days the pain is usually in the pel￭ vis or lower ab￭ dom￭ en other symptoms may include back pain diarr￭ hea or naus￭ ea
men￭ op￭ ause
men￭ op￭ ause also known as the clim￭ ac￭ ter￭ ic is the time in most women s lives when men￭ str￭ ual periods stop permanently and they are no longer able to bear children men￭ op￭ ause typically occurs between 49 and 52 years of age medical professionals often define men￭ op￭ ause as having occurred when a woman has not had any vag￭ inal bleeding for a year it may also be defined by a decrease in hormone production by the ov￭ aries in those who have had surgery to remove their uter￭ us but they still have ov￭ aries men￭ op￭ ause may be viewed to have occurred at the time of the surgery or when their hormone levels fell following the removal of the uter￭ us symptoms typically occur earlier at an average of 45 years of age
men￭ op￭ ause also known as the clim￭ ac￭ ter￭ ic is the time in most women s lives when men￭ str￭ ual periods stop permanently and they are no longer able to bear children men￭ op￭ ause typically occurs between 49 and 52 years of age medical professionals often define men￭ op￭ ause as having occurred when a woman has not had any vag￭ inal bleeding for a year it may also be defined by a decrease in hormone production by the ov￭ aries in those who have had surgery to remove their uter￭ us but they still have ov￭ aries men￭ op￭ ause may be viewed to have occurred at the time of the surgery or when their hormone levels fell following the removal of the uter￭ us symptoms typically occur earlier at an average of 45 years of age before men￭ op￭ ause a woman s periods typically become irregular which means that periods may be longer or shorter in duration or be lighter or heavier in the amount of flow during this time women often experience hot fl￭ ashes these typically last from 30 seconds to ten minutes and may be associated with shi￭ vering swe￭ ating and red￭ dening of the skin hot fl￭ ashes often stop occurring after a year or two other symptoms may include vag￭ inal dr￭ y￭ ness trouble sleeping and mood changes the severity of symptoms varies between women while men￭ op￭ ause is often thought to be linked to an increase in heart disease this primarily occurs due to increasing age and does not have a direct relationship with men￭ op￭ ause in some women problems that were present like end￭ ome￭ tri￭ osis or painful periods will improve after men￭ op￭ ause men￭ op￭ ause is usually a natural change it can occur earlier in those who smoke tobacco other causes include surgery that removes both ov￭ aries or some types of chem￭ otherapy at the physiological level men￭ op￭ ause happens because of a decrease in the ov￭ aries production of the hormones estro￭ gen and prog￭ est￭ er￭ one while typically not needed a diagnosis of men￭ op￭ ause can be confirmed by measuring hormone levels in the blood or urine men￭ op￭ ause is the opposite of men￭ arch￭ e the time when a girl s periods start specific treatment is not usually needed some symptoms however may be improved with treatment with respect to hot fl￭ ashes avoiding smoking caff￭ eine and alcohol is often recommended sleeping in a cool room and using a fan may help the following medications may help men￭ opa￭ usal hormone therapy m￭ ht cl￭ on￭ id￭ ine gab￭ ap￭ entin or selective sero￭ ton￭ in re￭ uptake inhi￭ bit￭ ors exercise may help with sleeping problems while m￭ ht was once routinely prescribed it is now only recommended in those with significant symptoms as there are concerns about side effects high quality evidence for the effectiveness of alternative medicine has not been found there is tentative evidence for so￭ y is￭ of￭ lav￭ ones
hormone replacement therapy men￭ op￭ ause
hormone replacement therapy hrt in men￭ op￭ ause is medical treatment in sur￭ g￭ ically men￭ opa￭ usal perim￭ en￭ opa￭ usal and post￭ men￭ opa￭ usal women its goal is to mitigate discomfort caused by diminished circulating estro￭ gen and prog￭ est￭ er￭ one hormones in men￭ op￭ ause combination hrt is often recommended as it decreases the amount of end￭ ome￭ trial hyper￭ pl￭ asia and cancer associated with un￭ opposed estro￭ gen therapy the main hormones involved are estro￭ gen prog￭ est￭ er￭ one and prog￭ esti￭ n some recent therapies include the use of and￭ rog￭ ens as well
recurrent mis￭ carriage
recurrent mis￭ carriage habitual abortion or recurrent pregnancy loss r￭ pl is three or more consecutive pregnancy losses in￭ fertility differs because it is the inability to conceive in many cases the cause of r￭ pl is unknown after three or more losses a thorough evaluation is recommended by american society of reproductive medicine about 1 of couples trying to have children are affected by recurrent mis￭ carriage
o￭ vari￭ an hyper￭ stimulation syndrome
o￭ vari￭ an hyper￭ stimulation syndrome oh￭ ss is a medical condition affecting the ov￭ aries of some women who take fertility medication to stimulate egg growth most cases are mild but rarely the condition is severe and can lead to serious illness or death
contrast induced ne￭ ph￭ ro￭ pa￭ thy
contrast induced ne￭ ph￭ ro￭ pa￭ thy is defined as either a greater than 25 increase of serum cre￭ at￭ in￭ ine or an absolute increase in serum cre￭ at￭ in￭ ine of 0 5 mg dl after using i￭ od￭ ine contrast agent without another clear cause for kidney injury despite extensive speculation the actual occurrence of contrast induced ne￭ ph￭ ro￭ pa￭ thy in other patient populations has not been demonstrated in the literature
residual o￭ vary syndrome
residual o￭ vary syndrome or o￭ vari￭ an rem￭ nant syndrome is a condition that occurs when o￭ vari￭ an tissue is left behind following o￭ opho￭ rec￭ tomy causing development of a pel￭ vic mass pel￭ vic pain and occasionally dy￭ sp￭ are￭ un￭ ia the frequency is about 1 8 in sp￭ ayed female dogs
ec￭ topic pregnancy
ec￭ topic pregnancy also known as ec￭ cy￭ esis or tu￭ bal pregnancy is a complic￭ ation of pregnancy in which the embryo attaches outside the uter￭ us signs and symptoms class￭ ically include ab￭ domin￭ al pain and vag￭ inal bleeding less than 50 percent of women have both of these symptoms the pain may be described as sharp dull or cr￭ amp￭ y pain may also spread to the shoulder if bleeding into the ab￭ dom￭ en has occurred severe bleeding may result in a fast heart rate fain￭ ting or shock with very rare exceptions the fe￭ tus is unable to survive
ec￭ topic pregnancy also known as ec￭ cy￭ esis or tu￭ bal pregnancy is a complic￭ ation of pregnancy in which the embryo attaches outside the uter￭ us signs and symptoms class￭ ically include ab￭ domin￭ al pain and vag￭ inal bleeding less than 50 percent of women have both of these symptoms the pain may be described as sharp dull or cr￭ amp￭ y pain may also spread to the shoulder if bleeding into the ab￭ dom￭ en has occurred severe bleeding may result in a fast heart rate fain￭ ting or shock with very rare exceptions the fe￭ tus is unable to survive risk factors for ec￭ topic pregnancy include pel￭ vic infl￭ am￭ matory disease often due to ch￭ lam￭ y￭ dia infection tobacco smoking prior tu￭ bal surgery a history of in￭ fertility and the use of assisted reproductive technology those who have previously had an ec￭ topic pregnancy are at much higher risk of having another one most ec￭ topic pregnancies 90 occur in the fall￭ op￭ ian tube which are known as tu￭ bal pregnancies implan￭ tation can also occur on the cer￭ vi￭ x ov￭ aries or within the ab￭ dom￭ en detection of ec￭ topic pregnancy is typically by blood tests for human ch￭ ori￭ onic gon￭ ad￭ o￭ tro￭ pin h￭ c￭ g and ul￭ tras￭ ound this may require testing on more than one occasion ul￭ tras￭ ound works best when performed from within the vag￭ ina other causes of similar symptoms include mis￭ carriage o￭ vari￭ an tor￭ sion and acute append￭ ic￭ i￭ tis prevention is by decreasing risk factors such as ch￭ lam￭ y￭ dia infections through screening and treatment while some ec￭ topic pregnancies will resolve without treatment this approach has not been well studied as of 2014 the use of the medication meth￭ o￭ tre￭ x￭ ate works as well as surgery in some cases specifically it works well when the beta h￭ c￭ g is low and the size of the ec￭ topic is small surgery is still typically recommended if the tube has rup￭ tured there is a fe￭ tal heartbeat or the person s vital signs are unstable the surgery may be l￭ apar￭ o￭ scopic or through a larger inc￭ ision known as a l￭ apar￭ o￭ tomy outcomes are generally good with treatment the rate of ec￭ topic pregnancy is about 1 and 2 that of live births in developed countries though it may be as high as 4 among those using assisted reproductive technology it is the most common cause of death during the first trim￭ ester at approximately 10 of the total in the developed world outcomes have improved while in the developing world they often remain poor the risk of death among those in the developed world is between 0 1 and 0 3 percent while in the developing world it is between one and three percent the first known description of an ec￭ topic pregnancy is by albu￭ cas￭ is in the 11 th century the word ec￭ topic means out of place
ab￭ domin￭ al pregnancy
an ab￭ domin￭ al pregnancy can be regarded as a form of an ec￭ topic pregnancy where the embryo or fe￭ tus is growing and developing outside the wom￭ b in the ab￭ dom￭ en but not in the fall￭ op￭ ian tube o￭ vary or broad lig￭ ament while rare ab￭ domin￭ al pregnancies have a higher chance of maternal mortality per￭ in￭ atal mortality and morbi￭ dity compared to normal and ec￭ topic pregnancies but on occasion a healthy viable infant can be delivered others in the minority are of the view that ab￭ domin￭ al pregnancy should be defined by a plac￭ enta impl￭ anted into the per￭ it￭ on￭ eu￭ m
an ab￭ domin￭ al pregnancy can be regarded as a form of an ec￭ topic pregnancy where the embryo or fe￭ tus is growing and developing outside the wom￭ b in the ab￭ dom￭ en but not in the fall￭ op￭ ian tube o￭ vary or broad lig￭ ament while rare ab￭ domin￭ al pregnancies have a higher chance of maternal mortality per￭ in￭ atal mortality and morbi￭ dity compared to normal and ec￭ topic pregnancies but on occasion a healthy viable infant can be delivered because tu￭ bal o￭ vari￭ an and broad lig￭ ament pregnancies are as difficult to diagnose and treat as ab￭ domin￭ al pregnancies their exclusion from the most common definition of ab￭ domin￭ al pregnancy has been debated others in the minority are of the view that ab￭ domin￭ al pregnancy should be defined by a plac￭ enta impl￭ anted into the per￭ it￭ on￭ eu￭ m
mol￭ ar pregnancy
mol￭ ar pregnancy is an abnormal form of pregnancy in which a non viable fertili￭ zed egg implants in the uter￭ us and will fail to come to term a mol￭ ar pregnancy is a gest￭ ational tro￭ pho￭ bl￭ astic disease which grows into a mass in the uter￭ us that has sw￭ oll￭ en ch￭ ori￭ onic vill￭ i these vill￭ i grow in clusters that resemble grapes a mol￭ ar pregnancy can develop when a fertili￭ zed egg does not contain an original maternal nucleus the products of conception may or may not contain fe￭ tal tissue it is characterized by the presence of a hy￭ d￭ ati￭ di￭ form mole or hy￭ d￭ ati￭ d mole mol￭ a hy￭ d￭ ati￭ do￭ sa mol￭ ar pregnancies are categ￭ orized as partial mol￭ es or complete mol￭ es with the word mole being used to den￭ ote simply a cl￭ ump of growing tissue or a growth
an￭ embryonic gest￭ ation
an an￭ embryonic gest￭ ation also known as a b￭ lighted ov￭ um is a pregnancy in which the very early pregnancy appears normal on an ul￭ tras￭ ound scan but as the pregnancy progres￭ ses a visible embryo never develops or develops and is re￭ absorbed in a normal pregnancy an embryo would be visible on an ul￭ tras￭ ound by six weeks after the woman s last men￭ str￭ ual period rather than do a trans￭ vag￭ inal exam at the time of the initial visit many centers prefer to do only a trans￭ ab￭ domin￭ al study and offer mothers a follow up ul￭ tras￭ ound 10 days later to see if a normal pregnancy subsequently develops
mis￭ carriage
mis￭ carriage also known as spontaneous abortion and pregnancy loss is the natural death of an embryo or fe￭ tus before it is able to survive independently some use the cu￭ to￭ ff of 20 weeks of gest￭ ation after which fe￭ tal death is known as a still￭ birth the most common symptoms of a mis￭ carriage is vag￭ inal bleeding with or without pain sadness anxiety and guilt may occur tissue or clo￭ t like material may also come out of the vag￭ ina
abortion
abortion is the ending of pregnancy by removing a fe￭ tus or embryo before it can survive outside the uter￭ us an abortion which occurs spontaneously is also known as a mis￭ carriage an abortion may be caused pur￭ po￭ sely and is then called an or less frequently induced mis￭ carriage the word abortion is often used to mean only induced abortions a similar procedure after the fe￭ tus could potentially survive outside the wom￭ b is known as a late termination of pregnancy
abortion is the ending of pregnancy by removing a fe￭ tus or embryo before it can survive outside the uter￭ us an abortion which occurs spontaneously is also known as a mis￭ carriage an abortion may be caused pur￭ po￭ sely and is then called an or less frequently induced mis￭ carriage the word abortion is often used to mean only induced abortions a similar procedure after the fe￭ tus could potentially survive outside the wom￭ b is known as a late termination of pregnancy when allowed by local law abortion in the developed world is modern methods use medication or surgery for abortions the drug mi￭ fe￭ pr￭ ist￭ one in combination with pro￭ stag￭ land￭ in appears to be as safe and effective as surgery during the first and second trim￭ ester of pregnancy birth control such as the pill or in￭ trau￭ ter￭ ine devices can be used immediately following abortion when performed legally and safely induced abortions do not increase the risk of long term mental or physical problems in contrast unsafe abortions cause 47 000 deaths and 5 million hospital ad￭ missions each year the world health organization recommends safe and legal abortions be available to all women around 56 million abortions occur each year in the world with a little under half done un￭ safely abortion rates changed little between 2003 and 2008 before which they decreased for at least two decades as access to family planning and birth control increased as of 2008 40 of the world s women had access to legal abortions without limits as to reason countries that permit abortions have different limits on how late in pregnancy abortion is allowed since ancient times abortions have been done using herbal medicines sharp tools with force or through other traditional methods abortion laws and cultural or religious views of abortions are different around the world in some areas abortion is legal only in specific cases such as rape problems with the fe￭ tus poverty risk to a woman s health or inc￭ est in many places there is much debate over the moral ethical and legal issues of abortion those who oppose abortion often maintain that an embryo or fe￭ tus is a human with a right to life and may compare abortion to murder those who favor the legality of abortion often hold that a woman has a right to make decisions about her own body
pre ec￭ lam￭ p￭ sia
pre ec￭ lam￭ p￭ sia pe is a disorder of pregnancy characterized by high blood pressure and a large amount of protein in the urine the disorder usually occurs in the third trim￭ ester of pregnancy and wor￭ sens over time in severe disease there may be red blood cell breakdown a low blood plat￭ elet count impaired liver function kidney dysfunction sw￭ elling short￭ ness of breath due to fluid in the lungs or visual disturbances pre ec￭ lam￭ p￭ sia increases the risk of poor outcomes for both the mother and the baby if left untreated it may result in seizures at which point it is known as ec￭ lam￭ p￭ sia
pre ec￭ lam￭ p￭ sia pe is a disorder of pregnancy characterized by high blood pressure and a large amount of protein in the urine the disorder usually occurs in the third trim￭ ester of pregnancy and wor￭ sens over time in severe disease there may be red blood cell breakdown a low blood plat￭ elet count impaired liver function kidney dysfunction sw￭ elling short￭ ness of breath due to fluid in the lungs or visual disturbances pre ec￭ lam￭ p￭ sia increases the risk of poor outcomes for both the mother and the baby if left untreated it may result in seizures at which point it is known as ec￭ lam￭ p￭ sia risk factors for pre ec￭ lam￭ p￭ sia include obesity prior hyper￭ tension older age and diabetes mell￭ it￭ us it is also more frequent in a woman s first pregnancy and if she is carrying twins the underlying mechanism involves abnormal formation of blood vessels in the plac￭ enta amongst other factors most cases are diagnosed before delivery rarely pre￭ ec￭ lam￭ p￭ sia may begin in the period after delivery while historically both high blood pressure and protein in the urine were required to make the diagnosis some definitions also include those with hyper￭ tension and any associated organ dysfunction blood pressure is defined as high when it is greater than 140 m￭ mh￭ g syst￭ ol￭ ic or 90 m￭ mh￭ g di￭ ast￭ ol￭ ic at two separate times more than four hours apart in a woman after twenty weeks of pregnancy pre￭ ec￭ lam￭ p￭ sia is routinely scre￭ ened for during pre￭ natal care recommendations for prevention include aspir￭ in in those at high risk calcium supplem￭ entation in areas with low intake and treatment of prior hyper￭ tension with medications in those with pre￭ ec￭ lam￭ p￭ sia delivery of the fe￭ tus and plac￭ enta is an effective treatment when delivery becomes recommended depends on how severe the pre￭ ec￭ lam￭ p￭ sia and how far along in pregnancy a person is blood pressure medication such as lab￭ e￭ tal￭ ol and meth￭ yl￭ dop￭ a may be used to improve the mother s condition before delivery magnesium sul￭ fate may be used to prevent ec￭ lam￭ p￭ sia in those with severe disease bed￭ rest and salt intake have not been found to be useful for either treatment or prevention pre￭ ec￭ lam￭ p￭ sia affects 2 – 8 of pregnancies worldwide hyper￭ ten￭ sive disorders of pregnancy which include pre￭ ec￭ lam￭ p￭ sia are one of the most common causes of death due to pregnancy they resulted in 29 000 deaths in 2013 – down from 37 000 deaths in 1990 pre￭ ec￭ lam￭ p￭ sia usually occurs after 32 weeks however if it occurs earlier it is associated with worse outcomes women who have had pre￭ ec￭ lam￭ p￭ sia are at increased risk of heart disease and stroke later in life the word ec￭ lam￭ p￭ sia is from the greek term for lightning the first known description of the condition was by hippo￭ crates in the 5 th century bc
hel￭ l￭ p syndrome
hel￭ l￭ p syndrome is a life threatening ob￭ ste￭ tric complic￭ ation usually considered to be a variant or complic￭ ation of pre ec￭ lam￭ p￭ sia both conditions usually occur during the later stages of pregnancy or sometimes after childbirth hel￭ l￭ p is an abbreviation of the three main features of the syndrome hem￭ ol￭ ysis elevated liver enzymes low plat￭ elet count
ec￭ lam￭ p￭ sia
ec￭ lam￭ p￭ sia is the onset of seizures con￭ vul￭ sions in a woman with pre ec￭ lam￭ p￭ sia pre ec￭ lam￭ p￭ sia is a disorder of pregnancy in which there is high blood pressure and either large amounts of protein in the urine or other organ dysfunction onset may be before during or after delivery most often it is during the second half of pregnancy the seizures are of the tonic – cl￭ onic type and typically last about a minute following the seizure there is typically either a period of confusion or coma complications include aspiration pneumonia cere￭ br￭ al hemorrha￭ ge kidney failure and cardiac arrest pre￭ ec￭ lam￭ p￭ sia and ec￭ lam￭ p￭ sia are part of a larger group of conditions known as hyper￭ ten￭ sive disorders of pregnancy
morning sickness
morning sickness also called naus￭ ea and v￭ om￭ iting of pregnancy n￭ vp is a symptom of pregnancy that involves naus￭ ea or v￭ om￭ iting despite the name naus￭ ea or v￭ om￭ iting can occur at any time during the day typically these symptoms occur between the 4 th and 16 th week of pregnancy about 10 of women still have symptoms after the 20 th week of pregnancy a severe form of the condition is known as hyper￭ em￭ esis gr￭ avi￭ dar￭ um and results in weight loss
morning sickness also called naus￭ ea and v￭ om￭ iting of pregnancy n￭ vp is a symptom of pregnancy that involves naus￭ ea or v￭ om￭ iting despite the name naus￭ ea or v￭ om￭ iting can occur at any time during the day typically these symptoms occur between the 4 th and 16 th week of pregnancy about 10 of women still have symptoms after the 20 th week of pregnancy a severe form of the condition is known as hyper￭ em￭ esis gr￭ avi￭ dar￭ um and results in weight loss the cause of morning sickness is unknown but may be related to changing levels of the hormone human ch￭ ori￭ onic gon￭ ad￭ o￭ troph￭ in some have proposed that it may be useful from an evolutionary point of view diagnosis should only occur after other possible causes have been ruled out ab￭ domin￭ al pain fever or headaches are typically not present in morning sickness taking pre￭ natal vitamins before pregnancy may decrease the risk specific treatment other than a bl￭ and diet may not be required for mild cases if treatment is used the combination of do￭ x￭ yl￭ amine and py￭ ri￭ do￭ x￭ ine is recommended initially tentative evidence supports the use of ginger for severe cases that have not improved with other measures meth￭ yl￭ pred￭ n￭ isol￭ one may be tried tube feeding may be required in women who are losing weight morning sickness affects about 80 of all pregnant women to some extent about 60 of women have v￭ om￭ iting hyper￭ em￭ esis gr￭ avi￭ dar￭ um occurs in about 1 6 of pregnancies morning sickness can negatively affect quality of life result in decreased ability to work while pregnant and result in health care expenses generally mild to moderate cases have no effect on the baby most severe cases also have normal outcomes some women choose to have an abortion due to the severity of symptoms complications such as wer￭ nic￭ ke encephalopathy or es￭ op￭ ha￭ ge￭ al rupture may occur but are very rare
hyper￭ em￭ esis gr￭ avi￭ dar￭ um
hyper￭ em￭ esis gr￭ avi￭ dar￭ um h￭ g is a complic￭ ation of pregnancy that is characterized by severe naus￭ ea and v￭ om￭ iting such that weight loss and dehydr￭ ation occur signs and symptoms may include v￭ om￭ iting several times a day and feeling faint it is more severe than morning sickness often symptoms get better after the 20 th week of pregnancy but may last the entire pregnancy
hyper￭ em￭ esis gr￭ avi￭ dar￭ um h￭ g is a complic￭ ation of pregnancy that is characterized by severe naus￭ ea and v￭ om￭ iting such that weight loss and dehydr￭ ation occur signs and symptoms may include v￭ om￭ iting several times a day and feeling faint it is more severe than morning sickness often symptoms get better after the 20 th week of pregnancy but may last the entire pregnancy the exact cause of hyper￭ em￭ esis gr￭ avi￭ dar￭ um is not known risk factors include the first pregnancy multiple pregnancy obesity prior or family history of hyper￭ em￭ esis gr￭ avi￭ dar￭ um tro￭ pho￭ bl￭ astic disorder and a history of an eating disorder the diagnosis is usually made based on the signs and symptoms it has been technically defined as more than three episodes of v￭ om￭ iting per day such that weight loss of 5 or three kilograms has occurred and ke￭ tones are present in the urine other potential causes of the symptoms should be excluded including ur￭ inary tract infection and high thyro￭ id levels treatment includes drinking fluids and a bl￭ and diet recommendations may include electro￭ ly￭ te replacement drinks thi￭ amine and a higher protein diet some women require intra￭ ven￭ ous fluids with respect to medications py￭ ri￭ do￭ x￭ ine or me￭ to￭ cl￭ op￭ ram￭ ide are preferred pro￭ chlor￭ per￭ az￭ ine dimen￭ hy￭ drin￭ ate or on￭ dan￭ se￭ tr￭ on may be used if these are not effective hosp￭ itali￭ zation may be required psycho￭ therapy may improve outcomes evidence for acu￭ pressure is poor while v￭ om￭ iting in pregnancy has been described as early as 2 000 bc the first clear medic￭ ally description of hyper￭ em￭ esis gr￭ avi￭ dar￭ um was in 18￭ 52 by an￭ to￭ ine du￭ bo￭ is hyper￭ em￭ esis gr￭ avi￭ dar￭ um is estimated to affect 0 3 – 2 0 of pregnant women while previously a common cause of death in pregnancy with proper treatment this is now very rare those affected have a low risk of mis￭ carriage but a higher risk of premature birth some women opt to have an abortion because of the symptoms
gest￭ ational diabetes
gest￭ ational diabetes also known as gest￭ ational diabetes mell￭ it￭ us g￭ dm is when a woman without diabetes develops high blood sugar levels during pregnancy gest￭ ational diabetes generally results in few symptoms however it does increase the risk of pre ec￭ lam￭ p￭ sia depression and requiring a ca￭ es￭ are￭ an section babies born to mothers with poorly treated gest￭ ational diabetes are at increased risk of being too large having low blood sugar after birth and ja￭ und￭ ice if untreated it can also result in a still￭ birth long term children are at higher risk of being overweight and developing type 2 diabetes
gest￭ ational p￭ emp￭ hi￭ go￭ id
gest￭ ational p￭ emp￭ hi￭ go￭ id or p￭ emp￭ hi￭ go￭ id gest￭ ation￭ is pg is a der￭ mat￭ osis of pregnancy being an auto￭ immune bl￭ is￭ tering skin disease that occurs during pregnancy typically in the second or third trim￭ ester and or immediately following pregnancy it was originally called her￭ pes gest￭ ation￭ is because of the bl￭ is￭ tering appearance although it is not associated with the her￭ pes virus
bre￭ ech birth
a bre￭ ech birth occurs when a baby is born bottom first instead of head first around 3 5 of pregnant women at term 37 – 40 weeks pregnant will have a bre￭ ech baby most babies in the bre￭ ech position are born by a ca￭ es￭ are￭ an section because it is seen as safer than being born vag￭ in￭ ally
a bre￭ ech birth occurs when a baby is born bottom first instead of head first around 3 5 of pregnant women at term 37 – 40 weeks pregnant will have a bre￭ ech baby most babies in the bre￭ ech position are born by a ca￭ es￭ are￭ an section because it is seen as safer than being born vag￭ in￭ ally as most bre￭ ech babies are delivered by ca￭ es￭ are￭ an section in developed countries doctors and midwives may lose the skills required to safely assist a women giving birth to a bre￭ ech baby vag￭ in￭ ally delivering all bre￭ ech babies by ca￭ es￭ are￭ an section in developing countries may be very difficult to implement or even impossible as there are not always resources available to provide this service
con￭ joined twins
con￭ joined twins are identical twins joined in uter￭ o an extremely rare phenomenon the occurrence is estimated to range from 1 in 49 000 births to 1 in 189 000 births with a somewhat higher incidence in southeast asia africa and brazil approximately half are still￭ born and an additional one third die within 24 hours most live births are female with a ratio of 3 1 most still￭ bor￭ ns are male
con￭ joined twins are identical twins joined in uter￭ o an extremely rare phenomenon the occurrence is estimated to range from 1 in 49 000 births to 1 in 189 000 births with a somewhat higher incidence in southeast asia africa and brazil approximately half are still￭ born and an additional one third die within 24 hours most live births are female with a ratio of 3 1 most still￭ bor￭ ns are male two contradic￭ ting theories exist to explain the origins of con￭ joined twins the more generally accepted theory is fis￭ sion in which the fertili￭ zed egg spl￭ its partially the other theory no longer believed to be the basis of con￭ joined twinning is fusion in which a fertili￭ zed egg completely separates but stem cells which search for similar cells find like stem cells on the other twin and fuse the twins together con￭ joined twins share a single common chor￭ ion plac￭ enta and am￭ ni￭ otic s￭ ac although these characteristics are not exclusive to con￭ joined twins as there are some mono￭ zy￭ go￭ tic but non con￭ joined twins who also share these structures in uter￭ o the most famous pair of con￭ joined twins was chang and eng bunker thai อ￭ ิ￭ น จ￭ ั￭ น in chan 18￭ 11 – 18￭ 74 thai brothers born in si￭ am now thailand they traveled with p t bar￭ num s circus for many years and were labeled as the si￭ am￭ ese twins chang and eng were joined by a band of flesh car￭ til￭ age and their f￭ used li￭ vers at the tor￭ so in modern times they could have been easily separated due to the brothers fame and the r￭ arity of the condition the term si￭ am￭ ese twins came to be used as a synon￭ ym for con￭ joined twins
poly￭ hy￭ dram￭ ni￭ os
poly￭ hy￭ dram￭ ni￭ os poly￭ hy￭ dram￭ n￭ ion hy￭ dram￭ ni￭ os poly￭ hy￭ dram￭ ni￭ os is a medical condition describing an excess of am￭ ni￭ otic fluid in the am￭ ni￭ otic s￭ ac it is seen in about 1 of pregnancies it is typically diagnosed when the am￭ ni￭ otic fluid index afi is greater than 24 cm there are two clinical varieties of poly￭ hy￭ dram￭ ni￭ os chronic poly￭ hy￭ dram￭ ni￭ os where excess am￭ ni￭ otic fluid accumul￭ ates gradually acute poly￭ hy￭ dram￭ ni￭ os where excess am￭ ni￭ otic fluid collects rapidly the opposite to poly￭ hy￭ dram￭ ni￭ os is oligo￭ hy￭ dram￭ ni￭ os a deficiency in am￭ ni￭ otic fluid
oligo￭ hy￭ dram￭ ni￭ os
oligo￭ hy￭ dram￭ ni￭ os is a condition in pregnancy characterized by a deficiency of am￭ ni￭ otic fluid it is the opposite of poly￭ hy￭ dram￭ ni￭ os
twin to twin transfusion syndrome
twin to twin transfusion syndrome tt￭ ts also known as fe￭ to fe￭ tal transfusion syndrome ff￭ ts and twin oligo￭ hy￭ dram￭ ni￭ os poly￭ hy￭ dram￭ ni￭ os sequence tops is a complic￭ ation of disproportionate blood supply resulting in high morbi￭ dity and mortality it can affect mono￭ ch￭ ori￭ onic multi￭ ples that is multiple pregnancies where two or more fet￭ uses share a chor￭ ion and hence a single plac￭ enta severe tt￭ ts has a 60 – 100 mortality rate
vel￭ am￭ ent￭ ous cord insertion
vel￭ am￭ ent￭ ous cord insertion is an abnormal condition during pregnancy normally the um￭ bil￭ ical cord inser￭ ts into the middle of the plac￭ enta as it develops in vel￭ am￭ ent￭ ous cord insertion the um￭ bil￭ ical cord inser￭ ts into the fe￭ tal memb￭ ran￭ es ch￭ ori￭ am￭ ni￭ otic memb￭ ran￭ es then travels within the memb￭ ran￭ es to the plac￭ enta between the am￭ n￭ ion and the chor￭ ion the exposed vessels are not protected by wh￭ ar￭ ton s jelly and hence are vulnerable to rupture rupture is especially likely if the vessels are near the cer￭ vi￭ x in which case they may rupture in early labor likely resulting in a still￭ birth this is a serious condition called v￭ asa pre￭ via not every pregnancy with a vel￭ am￭ ent￭ ous cord insertion results in v￭ asa pre￭ via only those in which the blood vessels are near the cer￭ vi￭ x
plac￭ enta acc￭ re￭ ta
plac￭ enta acc￭ re￭ ta occurs when all or part of the plac￭ enta attaches abnormally to the my￭ ome￭ tri￭ um the muscular layer of the uter￭ ine wall three grades of abnormal plac￭ ental attachment are defined according to the depth of invasion acc￭ re￭ ta – ch￭ ori￭ onic vill￭ i attach to the my￭ ome￭ tri￭ um rather than being restricted within the deci￭ du￭ a bas￭ alis incre￭ ta – ch￭ ori￭ onic vill￭ i invade into the my￭ ome￭ tri￭ um per￭ cre￭ ta – ch￭ ori￭ onic vill￭ i invade through the my￭ ome￭ tri￭ um
plac￭ enta pra￭ evi￭ a
plac￭ enta pre￭ via is an ob￭ ste￭ tric complic￭ ation in which the plac￭ enta is inserted partially or wholly in the lower uter￭ ine segment it is a leading cause of an￭ te￭ par￭ tum haemorrha￭ ge vag￭ inal bleeding it affects approximately 0 4 0 5 of all lab￭ ours in the last trim￭ ester of pregnancy the is￭ th￭ mus of the uter￭ us unfol￭ ds and forms the lower segment in a typical pregnancy the plac￭ enta does not over￭ lie if the plac￭ enta does over￭ lie the lower segment as is the case with plac￭ enta pre￭ via it may she￭ ar off and a small section may bleed
plac￭ ental ab￭ ruption
plac￭ ental ab￭ ruption also known as abrup￭ tio plac￭ enta￭ e is a complic￭ ation of pregnancy where￭ in the plac￭ ental lining has separated from the uter￭ us of the mother prior to delivery it is the most common pathological cause of late pregnancy bleeding in humans it refers to the abnormal separation after 20 weeks of gest￭ ation and prior to birth it occurs on average in 0 5 or 1 in 200 deliveries plac￭ ental ab￭ ruption is a significant contributor to maternal mortality worldwide early and skilled medical intervention is needed to ensure a good outcome and this is not available in many parts of the world treatment depends on how serious the ab￭ ruption is and how far along the woman is in her pregnancy
an￭ te￭ par￭ tum haemorrha￭ ge
in ob￭ ste￭ trics an￭ te￭ par￭ tum haemorrha￭ ge ap￭ h also prepar￭ tum hemorrha￭ ge is genital bleeding during pregnancy from the 24 th week sometimes defined as from the 20 th week gest￭ ational age to term it can be associated with reduced fe￭ tal birth weight in regard to treatment it should be considered a medical emergency regardless of whether there is pain and medical attention should be sought immediately as if it is left untreated it can lead to death of the mother and or fe￭ tus
bra￭ x￭ ton hic￭ ks contr￭ actions
bra￭ x￭ ton hic￭ ks contr￭ actions also known as pro￭ dro￭ mal labor or practice contr￭ actions or false labor are spor￭ adic uter￭ ine contr￭ actions that sometimes start around six weeks into a pregnancy however they are not usually felt until the second trim￭ ester or third trim￭ ester of pregnancy
pre￭ term birth
pre￭ term birth also known as premature birth is the birth of a baby at less than 37 weeks gest￭ ational age these babies are known as pre￭ em￭ ies or pre￭ m￭ m￭ ies symptoms of pre￭ term labor include uter￭ ine contr￭ actions which occur more often than every ten minutes or the le￭ aking of fluid from the vag￭ ina premature infants are at greater risk for cere￭ br￭ al pal￭ sy delays in development hearing problems and sight problems these risks are greater the earlier a baby is born
pre￭ term birth also known as premature birth is the birth of a baby at less than 37 weeks gest￭ ational age these babies are known as pre￭ em￭ ies or pre￭ m￭ m￭ ies symptoms of pre￭ term labor include uter￭ ine contr￭ actions which occur more often than every ten minutes or the le￭ aking of fluid from the vag￭ ina premature infants are at greater risk for cere￭ br￭ al pal￭ sy delays in development hearing problems and sight problems these risks are greater the earlier a baby is born the cause of pre￭ term birth is often not known risk factors include diabetes high blood pressure being pregnant with more than one baby being either ob￭ ese or under￭ weight a number of vag￭ inal infections tobacco smoking and psychological stress among others it is recommended that labor not be medic￭ ally induced before 39 weeks unless required for other medical reasons the same recommendation applies to ces￭ are￭ an section medical reasons for early delivery include pre￭ ec￭ lam￭ p￭ sia in those at risk the hormone prog￭ est￭ er￭ one if taken during pregnancy may prevent pre￭ term birth evidence does not support the usefulness of bed rest it is estimated that at least 75 of pre￭ term infants would survive with appropriate treatment in women who might deliver between 24 and 37 weeks cor￭ ti￭ co￭ ster￭ oids improve outcomes a number of medications including ni￭ fe￭ di￭ pine may delay delivery so that a mother can be moved to where more medical care is available and the cor￭ ti￭ co￭ ster￭ oids have a greater chance to work once the baby is born care includes keeping the baby warm through skin to skin contact supporting breastfeeding treating infections and supporting breathing pre￭ term birth is the most common cause of death among infants worldwide about 15 million babies are pre￭ term each year 5 to 18 of all deliveries in many countries rates of premature births have increased between the 1990 s and 2010 s complications from pre￭ term births resulted in 0 74 million deaths in 2013 down from 1 57 million in 1990 the chance of survival at less than 23 weeks is close to zero while at 23 weeks it is 15 24 weeks 55 and 25 weeks about 80 the chances of survival without long term difficulties are lower
shoulder presentation
obstructed labour
obstructed labour also known as labour dy￭ sto￭ cia is when even though the uter￭ us is contracting normally the baby does not exit the pel￭ vis during childbirth due to being physically blocked complications for the baby include not getting enough oxygen which may result in death it increases the risk of the mother getting an infection having uter￭ ine rupture or having post par￭ tum bleeding long term complications for the mother include ob￭ ste￭ tr￭ ical f￭ ist￭ ula obstructed labour is said to result in prolonged labour when the active phase of labour is longer than twelve hours
obstructed labour also known as labour dy￭ sto￭ cia is when even though the uter￭ us is contracting normally the baby does not exit the pel￭ vis during childbirth due to being physically blocked complications for the baby include not getting enough oxygen which may result in death it increases the risk of the mother getting an infection having uter￭ ine rupture or having post par￭ tum bleeding long term complications for the mother include ob￭ ste￭ tr￭ ical f￭ ist￭ ula obstructed labour is said to result in prolonged labour when the active phase of labour is longer than twelve hours the main causes of obstructed labour include a large or abnormally positioned baby a small pel￭ vis and problems with the birth canal abnormal positioning includes shoulder dy￭ sto￭ cia were the an￭ terior shoulder does not pass easily below the pu￭ bic bone risk factors for a small pel￭ vis include malnutrition and a lack of exposure to sunlight causing vitamin d deficiency it is also more common in adoles￭ cence as the pel￭ vis may not have finished growing problems with the birth canal include a narrow vag￭ ina and per￭ in￭ eu￭ m which may be due to female genital mutilation or tumors a par￭ to￭ graph is often used to track labour progression and diagnose problems this combined with physical examination may identify obstructed labour the treatment of obstructed labour may require ces￭ are￭ an section or vacuum extraction with possible surgical opening of the symp￭ h￭ ysis pu￭ bis other measures include keeping the women hydr￭ ated and antibiotics if the memb￭ ran￭ es have been rup￭ tured for more than 18 hours in africa and asia obstructed labor effects between two and five percent of deliveries in 2013 about 5 1 cases of obstructed labour occurred this resulted in 19 000 deaths down from 29 000 deaths in 1990 about 8 of all deaths related to pregnancy most deaths due to this condition occur in the developing world
shoulder dy￭ sto￭ cia
shoulder dy￭ sto￭ cia is a specific case of obstructed labour whereby after the delivery of the head the an￭ terior shoulder of the infant cannot pass below or requires significant manipulation to pass below the pu￭ bic symp￭ h￭ ysis it is diagnosed when the shoulders fail to deliver shortly after the fe￭ tal head shoulder dy￭ sto￭ cia is an ob￭ ste￭ tric emergency and fe￭ tal demise can occur if the infant is not delivered due to compression of the um￭ bil￭ ical cord within the birth canal it occurs in approximately 0 3 1 of vag￭ inal births
um￭ bil￭ ical cord pro￭ lapse
um￭ bil￭ ical cord pro￭ lapse occurs when the um￭ bil￭ ical cord comes out of the uter￭ us with or before the presenting part of the fe￭ tus it is a relatively rare condition and occurs in fewer than 1 of pregnancies cord pro￭ lapse is more common in women who have had rupture of their am￭ ni￭ otic s￭ ac other risk factors include maternal or fe￭ tal factors that prevent the fe￭ tus from occupying a normal position in the maternal pel￭ vis such as abnormal fe￭ tal lie too much am￭ ni￭ otic fluid or a premature or small fe￭ tus the concern with cord pro￭ lapse is that pressure on the cord from the fe￭ tus will cause cord compression that compromises blood flow to the fe￭ tus whenever there is a sudden decrease in fe￭ tal heart rate or abnormal fe￭ tal heart tracing um￭ bil￭ ical cord pro￭ lapse should be considered due to the pos￭ s
per￭ ine￭ al tear
in ob￭ ste￭ trics a per￭ ine￭ al tear is a spontaneous unintended lac￭ eration of the skin and other soft tissue structures which in women separate the vag￭ ina from the an￭ us per￭ ine￭ al tears mainly occur in women as a result of vag￭ inal childbirth which strains the per￭ in￭ eu￭ m tears vary widely in severity the majority are superficial and require no treatment but severe tears can cause significant bleeding long term pain or dysfunction a per￭ ine￭ al tear is distinct from an ep￭ is￭ io￭ tomy in which the per￭ in￭ eu￭ m is intentionally inc￭ ised to facilitate delivery
uter￭ ine rupture
uter￭ ine rupture is a potentially catastrophic event during childbirth by which the integrity of the my￭ ome￭ trial wall is breached in an incomplete rupture the per￭ it￭ on￭ eu￭ m is still intact with a complete rupture the contents of the uter￭ us may spill into the per￭ it￭ one￭ al cav￭ ity or the broad lig￭ ament a uter￭ ine rupture is a life threatening event for mother and baby a uter￭ ine rupture typically occurs during active labor but may also develop during late pregnancy uter￭ ine de￭ his￭ cence is a similar condition but involves fewer layers less bleeding and less risk
cephal￭ ic presentation
a cephal￭ ic presentation or head presentation or head first presentation is a situation at childbirth where the fe￭ tus is in a longit￭ ud￭ inal lie and the head enters the pel￭ vis first the most common form of cephal￭ ic presentation is the ver￭ tex presentation where the oc￭ ci￭ put is the leading part the part that first enters the birth canal all other presentations are abnormal mal￭ presentations which are either more difficult to deliver or not deliver￭ able by natural means
post￭ par￭ tum infections
post￭ par￭ tum infections also known as puer￭ per￭ al infections is any bacterial infection of the female reproductive tract following childbirth or mis￭ carriage signs and symptoms usually include a fever greater than 38 0 ° c 100 4 ° f ch￭ ills lower ab￭ domin￭ al pain and possibly bad sm￭ elling vag￭ inal discharge it usually occurs after the first 24 hours and within the first ten days following delivery
air embol￭ ism
an air embol￭ ism also known as a gas embol￭ ism is an embol￭ ism or blood vessel block￭ age caused by one or more bubbles of air or gas in the circul￭ atory system air embol￭ isms may also occur in the x￭ yl￭ em of vascular plants especially when suffering from water stress di￭ vers can suffer from arter￭ ial gas embol￭ isms ven￭ ous gas embol￭ isms usually get blocked by the lungs and so rarely cause a problem
am￭ ni￭ otic fluid embol￭ ism
fat embol￭ ism
a fat embol￭ ism is a type of embol￭ ism that is often caused by physical trauma such as frac￭ ture of long bones soft tissue trauma and burns
peri￭ par￭ tum cardi￭ om￭ y￭ opathy
peri￭ par￭ tum cardi￭ om￭ y￭ opathy pp￭ cm is a form of dil￭ ated cardi￭ om￭ y￭ opathy that is defined as a deterioration in cardiac function presenting typically between the last month of pregnancy and up to six months post￭ par￭ tum as with other forms of dil￭ ated cardi￭ om￭ y￭ opathy pp￭ cm involves syst￭ ol￭ ic dysfunction of the heart with a decrease of the left ven￭ tric￭ ular e￭ jec￭ tion fraction ef with associated cong￭ estive heart failure and an increased risk of atri￭ al and ven￭ tric￭ ular arr￭ hy￭ th￭ mi￭ as thro￭ m￭ bo￭ embol￭ ism block￭ age of a blood vessel by a blood clo￭ t and even sudden cardiac death in essence the heart muscle cannot contract forcefully enough to pump adequate amounts of blood for the needs of the body s vital organs
post￭ par￭ tum thyro￭ idi￭ tis
post￭ par￭ tum thyro￭ idi￭ tis is a phenomenon observed following pregnancy and may involve hyper￭ thyro￭ i￭ dis￭ m hypo￭ thyro￭ i￭ dis￭ m or the two sequ￭ entially it affects about 5 of all women within a year after giving birth the first phase is typically hyper￭ thyro￭ i￭ dis￭ m then the thyro￭ id either returns to normal or a woman develops hypo￭ thyro￭ i￭ dis￭ m of those women who experience hypo￭ thyro￭ i￭ dis￭ m associated with post￭ par￭ tum thyro￭ idi￭ tis one in five will develop permanent hypo￭ thyro￭ i￭ dis￭ m requiring lifelong treatment
post￭ par￭ tum thyro￭ idi￭ tis is a phenomenon observed following pregnancy and may involve hyper￭ thyro￭ i￭ dis￭ m hypo￭ thyro￭ i￭ dis￭ m or the two sequ￭ entially it affects about 5 of all women within a year after giving birth the first phase is typically hyper￭ thyro￭ i￭ dis￭ m then the thyro￭ id either returns to normal or a woman develops hypo￭ thyro￭ i￭ dis￭ m of those women who experience hypo￭ thyro￭ i￭ dis￭ m associated with post￭ par￭ tum thyro￭ idi￭ tis one in five will develop permanent hypo￭ thyro￭ i￭ dis￭ m requiring lifelong treatment post￭ par￭ tum thyro￭ idi￭ tis is believed to result from the modifications to the immune system necessary in pregnancy and his￭ to￭ logically is a sub￭ acute lymp￭ ho￭ cy￭ tic thyro￭ idi￭ tis the process is normally self limiting but when conventional antibodies are found there is a high chance of this proceeding to permanent hypo￭ thyro￭ i￭ dis￭ m post￭ par￭ tum thyro￭ idi￭ tis is a member of the group of thyro￭ idi￭ tis conditions known as resolving thyro￭ idi￭ tis
lac￭ tation failure
lac￭ tation failure or deficiency also known as ag￭ al￭ acti￭ a or ag￭ al￭ ac￭ tor￭ rhe￭ a as well as hypo￭ gal￭ acti￭ a or hypo￭ galac￭ tor￭ rhe￭ a is a medical condition in which lac￭ tation is insufficient or fails completely due to an inadequacy of breast milk production and or a failure of the milk let down reflex in response to suc￭ kling following childbirth resulting in an inability to properly breast￭ feed
maternal death
maternal death is defined by the world health organization who as the death of a woman while pregnant or within 42 days of termination of pregnancy irrespective of the duration and site of the pregnancy from any cause related to or aggravated by the pregnancy or its management but not from accidental or incidental causes
maternal death is defined by the world health organization who as the death of a woman while pregnant or within 42 days of termination of pregnancy irrespective of the duration and site of the pregnancy from any cause related to or aggravated by the pregnancy or its management but not from accidental or incidental causes the world mortality rate has declined 45 since 1990 but still every day 800 women die from pregnancy or childbirth related causes according to the united nations population fund unf￭ pa this is equivalent to about one woman every two minutes and for every woman who dies 20 or 30 encounter complications with serious or long lasting consequences most of these deaths and injuries are entirely preventable unf￭ pa estimated that 289 000 women died of pregnancy or childbirth related causes in 2013 these causes range from severe bleeding to obstructed labour all of which have highly effective interventions as women have gained access to family planning and skilled birth attendance with backup emergency ob￭ ste￭ tric care the global maternal mortality ratio has fallen from 380 maternal deaths per 100 000 live births in 1990 to 210 deaths per 100 000 live births in 2013 and many countries halved their maternal death rates in the last 10 years worldwide mortality rates have been decreasing in modern age high rates still exist particularly in impoverished communities with over 85 living in africa and southern asia the effect of a mother s death results in vulnerable families and their infants if they survive childbirth are more likely to die before reaching their second birthday
pr￭ uri￭ tic ur￭ tic￭ arial pap￭ ules and pl￭ aqu￭ es of pregnancy
pr￭ uri￭ tic ur￭ tic￭ arial pap￭ ules and pl￭ aqu￭ es of pregnancy pu￭ ppp known in united kingdom as poly￭ morph￭ ic eruption of pregnancy pe￭ p is a chronic hi￭ ves like rash that strikes some women during pregnancy although extremely annoying for its sufferers because of the itch it presents no long term risk for either the mother or unborn child pu￭ ppp frequently begins on the ab￭ dom￭ en and spreads to the legs feet arms chest and neck pu￭ ppp s occurs in about 1 in every 200 pregnancies and is not always easy to diagnose front view of ab￭ dom￭ en side view of ab￭ dom￭ en feet and an￭ kle view
pr￭ uri￭ tic ur￭ tic￭ arial pap￭ ules and pl￭ aqu￭ es of pregnancy pu￭ ppp known in united kingdom as poly￭ morph￭ ic eruption of pregnancy pe￭ p is a chronic hi￭ ves like rash that strikes some women during pregnancy although extremely annoying for its sufferers because of the itch it presents no long term risk for either the mother or unborn child pu￭ ppp frequently begins on the ab￭ dom￭ en and spreads to the legs feet arms chest and neck pap￭ ules and pl￭ aqu￭ es usually start appearing on the ab￭ dom￭ en although not on the um￭ bil￭ ic￭ us bell￭ y￭ button and often spreads to the legs chest under￭ arms etc the face is usually also spared and does not seem to become affected skin dis￭ tension stretching is a common factor in pu￭ ppp which is more common in mothers with large fund￭ al measurements and or those who are carrying large babies twins and tri￭ ple￭ ts the pap￭ ules and pl￭ aqu￭ es often first appear within stretch marks certain studies reveal that this condition is more frequent in women carrying boys although no formal research has been conducted statistics cite that 70 of pu￭ ppp sufferers deliver boys some researchers think it has to do with male dna inter￭ acting with the mother s body causing irritation pu￭ ppp s occurs in about 1 in every 200 pregnancies and is not always easy to diagnose front view of ab￭ dom￭ en side view of ab￭ dom￭ en feet and an￭ kle view
plac￭ ental in￭ sufficiency
single um￭ bil￭ ical artery
occasionally there is only the one single um￭ bil￭ ical artery su￭ a present in the um￭ bil￭ ical cord approximately this affects between 1 in 100 and 1 in 500 pregnancies making it the most common um￭ bil￭ ical ab￭ normality it is more common in multiple births its cause is not known it may be associated with ed￭ wards syndrome
am￭ ni￭ otic band con￭ stric￭ tion
am￭ ni￭ otic band con￭ stric￭ tion also known as am￭ ni￭ otic band syndrome adam complex am￭ ni￭ otic band sequence con￭ genital con￭ stric￭ tion bands and pseu￭ do￭ ain￭ h￭ um is a con￭ genital disorder caused by entr￭ ap￭ ment of fe￭ tal parts usually a limb or digits in fi￭ bro￭ us am￭ ni￭ otic bands while in uter￭ o
small for gest￭ ational age
small for gest￭ ational age s￭ ga embryos are those who are smaller in size than normal for the gest￭ ational age most commonly defined as a weight below the 10 th per￭ centi￭ le for the gest￭ ational age
in￭ trau￭ ter￭ ine growth restriction
in￭ trau￭ ter￭ ine growth retar￭ dation also known as in￭ trau￭ ter￭ ine growth restriction i￭ ug￭ r refers to poor growth of a fe￭ tus while in the mother s wom￭ b during pregnancy the causes can be many but most often involve poor maternal nutrition or lack of adequate oxygen supply to the fe￭ tus at least 60 of the 4 million ne￭ on￭ atal deaths that occur worldwide every year are associated with low birth weight l￭ b￭ w caused by in￭ trau￭ ter￭ ine growth restriction i￭ ug￭ r pre￭ term delivery and genetic chro￭ mo￭ som￭ al ab￭ norm￭ alities demonstrating that under nutrition is already a leading health problem at birth
in￭ trau￭ ter￭ ine growth retar￭ dation also known as in￭ trau￭ ter￭ ine growth restriction i￭ ug￭ r refers to poor growth of a fe￭ tus while in the mother s wom￭ b during pregnancy the causes can be many but most often involve poor maternal nutrition or lack of adequate oxygen supply to the fe￭ tus at least 60 of the 4 million ne￭ on￭ atal deaths that occur worldwide every year are associated with low birth weight l￭ b￭ w caused by in￭ trau￭ ter￭ ine growth restriction i￭ ug￭ r pre￭ term delivery and genetic chro￭ mo￭ som￭ al ab￭ norm￭ alities demonstrating that under nutrition is already a leading health problem at birth in￭ trau￭ ter￭ ine growth restriction can result in a baby being small for gest￭ ational age s￭ ga which is most commonly defined as a weight below the 10 th per￭ centi￭ le for the gest￭ ational age at the end of pregnancy it can result in a low birth weight
large for gest￭ ational age
large for gest￭ ational age l￭ ga is an indication of high pre￭ natal growth rate l￭ ga is often defined as a weight length or head circum￭ fer￭ ence that lies above the 90 th per￭ centi￭ le for that gest￭ ational age however it has been suggested that the definition be restricted to infants with birth weights greater than the 97 th per￭ centi￭ le 2 standard deviations above the mean as this more accurately describes infants who are at greatest risk for per￭ in￭ atal morbi￭ dity and mortality
birth trauma physical
birth trauma bt refers to damage of the tissues and organs of a newly delivered child often as a result of physical pressure or trauma during childbirth the term also encompasses the long term consequences often of a cognitive nature of damage to the brain or cran￭ ium medical study of birth trauma dates to the 16 th century and the mor￭ pho￭ logical consequences of mis￭ handled delivery are described in renaissance era medical literature birth injury occupies a unique area of concern and study in the medical can￭ on in ic￭ d 10 birth trauma occupied 49 individual codes p 10 р 15
cap￭ ut succe￭ dan￭ eu￭ m
cap￭ ut succe￭ dan￭ eu￭ m is a ne￭ on￭ atal condition involving a sero￭ san￭ guin￭ ous sub￭ cu￭ taneous extr￭ ap￭ eri￭ o￭ steal fluid collection with poorly defined margins caused by the pressure of the presenting part of the scal￭ p against the dil￭ ating cer￭ vi￭ x tour￭ ni￭ quet effect of the cer￭ vi￭ x during delivery it involves bleeding below the scal￭ p and above the perio￭ steu￭ m
cephal￭ o￭ hem￭ atom￭ a
a cephal￭ ha￭ em￭ atom￭ a british english or cephal￭ hem￭ atom￭ a american english is a hemorrha￭ ge of blood between the skull and the perio￭ steu￭ m of a new￭ born baby secondary to rupture of blood vessels crossing the perio￭ steu￭ m because the sw￭ elling is sub￭ perio￭ steal its boundaries are limited by the individual bones in contrast to a cap￭ ut succe￭ dan￭ eu￭ m
infant respiratory distress syndrome
infant respiratory distress syndrome ir￭ ds also called ne￭ on￭ atal respiratory distress syndrome respiratory distress syndrome of new￭ born or increasingly sur￭ fac￭ tant deficiency disorder s￭ dd and previously called hy￭ al￭ ine memb￭ rane disease h￭ md is a syndrome in premature infants caused by developmental in￭ sufficiency of pul￭ mon￭ ary sur￭ fac￭ tant production and structural im￭ maturity in the lungs it can also be a consequence of ne￭ on￭ atal infection it can also result from a genetic problem with the production of sur￭ fac￭ tant associated proteins ir￭ ds affects about 1 of new￭ born infants and is the leading cause of death in pre￭ term infants the incidence decreases with advancing gest￭ ational age from about 50 in babies born at 26 – 28 weeks to about 25 at 30 – 31 weeks the syndrome is more frequent
me￭ con￭ ium aspiration syndrome
me￭ con￭ ium aspiration syndrome mas also known as ne￭ on￭ atal aspiration of me￭ con￭ ium is a medical condition affecting new￭ born infants it occurs when me￭ con￭ ium is present in their lungs during or before delivery me￭ con￭ ium is the first sto￭ ol of an infant composed of materials ing￭ ested during the time the infant spends in the uter￭ us
me￭ con￭ ium aspiration syndrome mas also known as ne￭ on￭ atal aspiration of me￭ con￭ ium is a medical condition affecting new￭ born infants it occurs when me￭ con￭ ium is present in their lungs during or before delivery me￭ con￭ ium is the first sto￭ ol of an infant composed of materials ing￭ ested during the time the infant spends in the uter￭ us me￭ con￭ ium is normally stored in the infant s intest￭ ines until after birth but sometimes often in response to fe￭ tal distress and hypo￭ x￭ ia it is expelled into the am￭ ni￭ otic fluid prior to birth or during labor if the baby then inhal￭ es the contaminated fluid respiratory problems may occur
con￭ genital lob￭ ar emph￭ ys￭ ema
con￭ genital lob￭ ar emph￭ ys￭ ema cle also known as con￭ genital lob￭ ar over￭ inflation and inf￭ anti￭ le lob￭ ar emph￭ ys￭ ema is a ne￭ on￭ atal condition associated with enlarged air spaces in the lungs of new￭ born children it is usually diagnosed around the time of birth or in the first 6 months of life occurring more often in boys than girls cle affects the upper lung lob￭ es more than the lower lob￭ es and the left lung more often than the right lung although cle may be caused by abnormal development of airways bron￭ chi for example or compression of airways by nearby tissues no cause is identified in half of cases
bron￭ chop￭ ul￭ mon￭ ary dys￭ pl￭ asia
bron￭ chop￭ ul￭ mon￭ ary dys￭ pl￭ asia b￭ pd formerly chronic lung disease of infancy is a chronic lung disorder of infants and children first described in 1967 it is more common in infants with low birth weight and those who receive prolonged mechanical ventilation to treat respiratory distress syndrome r￭ ds it results in significant morbi￭ dity and mortality the definition of b￭ pd has continued to evolve since then primarily due to changes in the population such as more survivors at earlier gest￭ ational ages and improved ne￭ on￭ atal management including sur￭ fac￭ tant anten￭ atal glu￭ co￭ cor￭ ti￭ co￭ id therapy and less aggressive mechanical ventilation
con￭ genital rub￭ ella syndrome
con￭ genital rub￭ ella syndrome crs can occur in a developing fe￭ tus of a pregnant woman who has contracted rub￭ ella usually in the first trim￭ ester if infection occurs 0 – 28 days before conception the infant has a 43 risk of being affected if the infection occurs 0 – 12 weeks after conception the risk increases to 51 if the infection occurs 13 – 26 weeks after conception the risk is 23 of the infant being affected by the disease infants are not generally affected if rub￭ ella is contracted during the third trim￭ ester or 26 – 40 weeks after conception problems rarely occur when rub￭ ella is contracted by the mother after 20 weeks of gest￭ ation and continues to disseminate the virus after birth
con￭ genital rub￭ ella syndrome crs can occur in a developing fe￭ tus of a pregnant woman who has contracted rub￭ ella usually in the first trim￭ ester if infection occurs 0 – 28 days before conception the infant has a 43 risk of being affected if the infection occurs 0 – 12 weeks after conception the risk increases to 51 if the infection occurs 13 – 26 weeks after conception the risk is 23 of the infant being affected by the disease infants are not generally affected if rub￭ ella is contracted during the third trim￭ ester or 26 – 40 weeks after conception problems rarely occur when rub￭ ella is contracted by the mother after 20 weeks of gest￭ ation and continues to disseminate the virus after birth it was discovered in 1941 by australian norman mc￭ alis￭ ter greg￭ g the molecular basis for the causation of con￭ genital rub￭ ella syndrome are not yet completely clear but in vitro studies with cell lines showed that rub￭ ella virus has an apop￭ to￭ tic effect on certain cell types there is evidence for a p 53 dependent mechanism
ne￭ on￭ atal her￭ pes simpl￭ ex
ne￭ on￭ atal her￭ pes simpl￭ ex is a rare but serious condition usually caused by vertical transmission of her￭ pes simpl￭ ex virus from mother to new￭ born around 1 in every 3 500 babies in the united states contract the infection
haemorrha￭ gic disease of the new￭ born
hem￭ ol￭ y￭ tic disease of the new￭ born
hem￭ ol￭ y￭ tic disease of the new￭ born also known as hem￭ ol￭ y￭ tic disease of the fe￭ tus and new￭ born h￭ dn h￭ d￭ f￭ n or er￭ y￭ thro￭ bl￭ ast￭ osis fe￭ tal￭ is is an allo￭ immune condition that develops in a fe￭ tus when the ig￭ g molecules one of the five main types of antibodies produced by the mother pass through the plac￭ enta among these antibodies are some which attack antigens on the red blood cells in the fe￭ tal circulation breaking down and destroying the cells hem￭ ol￭ ysis the fe￭ tus can develop re￭ ticul￭ oc￭ y￭ to￭ sis and an￭ emia this fe￭ tal disease ranges from mild to very severe and fe￭ tal death from heart failure hydro￭ ps fe￭ tal￭ is can occur when the disease is moderate or severe many er￭ y￭ thro￭ bl￭ asts immature red blood cells are present in the fe￭ tal blood and so these forms of the disease can be called er￭ y￭ thro￭ blast
hem￭ ol￭ y￭ tic disease of the new￭ born also known as hem￭ ol￭ y￭ tic disease of the fe￭ tus and new￭ born h￭ dn h￭ d￭ f￭ n or er￭ y￭ thro￭ bl￭ ast￭ osis fe￭ tal￭ is is an allo￭ immune condition that develops in a fe￭ tus when the ig￭ g molecules one of the five main types of antibodies produced by the mother pass through the plac￭ enta among these antibodies are some which attack antigens on the red blood cells in the fe￭ tal circulation breaking down and destroying the cells hem￭ ol￭ ysis the fe￭ tus can develop re￭ ticul￭ oc￭ y￭ to￭ sis and an￭ emia this fe￭ tal disease ranges from mild to very severe and fe￭ tal death from heart failure hydro￭ ps fe￭ tal￭ is can occur when the disease is moderate or severe many er￭ y￭ thro￭ bl￭ asts immature red blood cells are present in the fe￭ tal blood and so these forms of the disease can be called er￭ y￭ thro￭ bl￭ ast￭ osis fe￭ tal￭ is or er￭ y￭ thro￭ bl￭ ast￭ osis fo￭ e￭ tal￭ is h￭ d￭ f￭ n represents a breach of immune privilege for the fe￭ tus or some other form of impairment of the immune tolerance of pregnancy various types of h￭ d￭ f￭ n are classified by which allo￭ antigen provo￭ kes the response in order of incidence the types include abo anti rh￭ d anti r￭ he anti rh￭ c anti r￭ he anti rh￭ c multi￭ antigen combinations and anti k￭ ell
r￭ h disease
r￭ h disease also known as r￭ hes￭ us iso￭ immun￭ isation r￭ h d disease r￭ hes￭ us incompatibility r￭ hes￭ us disease rh￭ d hem￭ ol￭ y￭ tic disease of the new￭ born r￭ hes￭ us d hem￭ ol￭ y￭ tic disease of the new￭ born or rh￭ d h￭ dn is a type of hem￭ ol￭ y￭ tic disease of the new￭ born h￭ dn the disease ranges from mild to severe and typically occurs only in some second or subsequent pregnancies of r￭ h negative women where the fe￭ tus s father is r￭ h positive leading to a r￭ h pregnancy during birth the mother may be exposed to the infant s blood and this causes the development of antibodies which may affect the health of subsequent r￭ h pregnancies in mild cases the fe￭ tus may have mild ana￭ emia with re￭ ticul￭ oc￭ y￭ to￭ sis in moderate or severe cases the fe￭ tus may have a more marked ana￭ emia and er￭ y￭ thro￭ bl￭ ast￭ osis fe￭ tal￭ is hem￭ ol￭ y￭ tic dise￭ a
hydro￭ ps fe￭ tal￭ is
ker￭ nic￭ ter￭ us
ker￭ nic￭ ter￭ us is a bi￭ li￭ rubin induced brain dysfunction bi￭ li￭ rubin is a highly neuro￭ toxic substance that may become elevated in the serum a condition known as hyper￭ bi￭ li￭ ru￭ bin￭ emia hyper￭ bi￭ li￭ ru￭ bin￭ emia may cause bi￭ li￭ rubin to accumulate in the gray matter of the central nervous system potentially causing irreversible neuro￭ logical damage depending on the level of exposure the effects range from clin￭ ically un￭ noticeable to severe brain damage and even death new￭ bor￭ ns are especially vulnerable to hyper￭ bi￭ li￭ ru￭ bin￭ emia induced neuro￭ logical damage and therefore must be carefully monitored for alterations in their serum bi￭ li￭ rubin levels
ne￭ on￭ atal ja￭ und￭ ice
ne￭ on￭ atal ja￭ und￭ ice or ne￭ on￭ atal hyper￭ bi￭ li￭ ru￭ bin￭ emia or ne￭ on￭ atal ic￭ ter￭ us from the greek word ἴ￭ κ￭ τε￭ ρο￭ ς attribu￭ tive ad￭ jec￭ tive ic￭ ter￭ ic is a yel￭ lowing of the skin and other tissues of a new￭ born infant a bi￭ li￭ rubin level of more than 85 μ￭ mol l 5 mg dl leads to a ja￭ und￭ iced appearance in ne￭ on￭ ates whereas in adults a level of 34 μ￭ mol l 2 mg dl is needed for this to occur in new￭ bor￭ ns ja￭ und￭ ice is detected by blan￭ ching the skin with pressure applied by a finger so that it reveals underlying skin and sub￭ cu￭ taneous tissue ja￭ und￭ iced new￭ bor￭ ns have yellow dis￭ color￭ ation of the white part of the eye and yel￭ lowing of the face extending down onto the chest
ne￭ on￭ atal ja￭ und￭ ice or ne￭ on￭ atal hyper￭ bi￭ li￭ ru￭ bin￭ emia or ne￭ on￭ atal ic￭ ter￭ us from the greek word ἴ￭ κ￭ τε￭ ρο￭ ς attribu￭ tive ad￭ jec￭ tive ic￭ ter￭ ic is a yel￭ lowing of the skin and other tissues of a new￭ born infant a bi￭ li￭ rubin level of more than 85 μ￭ mol l 5 mg dl leads to a ja￭ und￭ iced appearance in ne￭ on￭ ates whereas in adults a level of 34 μ￭ mol l 2 mg dl is needed for this to occur in new￭ bor￭ ns ja￭ und￭ ice is detected by blan￭ ching the skin with pressure applied by a finger so that it reveals underlying skin and sub￭ cu￭ taneous tissue ja￭ und￭ iced new￭ bor￭ ns have yellow dis￭ color￭ ation of the white part of the eye and yel￭ lowing of the face extending down onto the chest ne￭ on￭ atal ja￭ und￭ ice can make the new￭ born sleepy and interfere with feeding extreme ja￭ und￭ ice can cause permanent brain damage from ker￭ nic￭ ter￭ us in ne￭ on￭ ates the yellow dis￭ color￭ ation of the skin is first noted in the face and as the bi￭ li￭ rubin level rises proceeds c￭ aud￭ al to the trunk and then to the extre￭ mi￭ ties this condition is common in new￭ bor￭ ns affecting over half 50 – 60 of all babies in the first week of life infants whose pal￭ ms and sol￭ es are yellow have serum bi￭ li￭ rubin level over 255 μ￭ mol l 15 mg dl more serious level studies have shown that trained exam￭ iners assessment of levels of ja￭ und￭ ice show moderate agreement with ic￭ ter￭ ome￭ ter bi￭ li￭ rubin measurements in infants ja￭ und￭ ice can be measured using invasive or non invasive methods
ne￭ on￭ atal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia
ne￭ on￭ atal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia na￭ it￭ p or na￭ it or nat￭ p or nat for short or fe￭ tal and ne￭ on￭ atal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia f￭ na￭ it fe￭ to maternal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia f￭ ma￭ it￭ p or f￭ ma￭ it is a disease that affects fet￭ uses and new￭ bor￭ ns in which the plat￭ elet count is decreased a state known as thro￭ m￭ bo￭ cy￭ top￭ enia plat￭ elet antigens are inherited from both mother and father f￭ na￭ it is caused by antibodies specific for plat￭ elet antigens inherited from the father but which are absent in the mother fe￭ tom￭ ater￭ nal trans￭ fu￭ sions or fe￭ tom￭ ater￭ nal hemorrha￭ ge results in the recognition of these antigens by the mother s immune system as non self with the subsequent generation of allo reactive antibodies which cross the plac￭ enta na￭ it hence is caused by trans￭ plac￭ ental passage of maternal plate
ne￭ on￭ atal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia na￭ it￭ p or na￭ it or nat￭ p or nat for short or fe￭ tal and ne￭ on￭ atal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia f￭ na￭ it fe￭ to maternal allo￭ immune thro￭ m￭ bo￭ cy￭ top￭ enia f￭ ma￭ it￭ p or f￭ ma￭ it is a disease that affects fet￭ uses and new￭ bor￭ ns in which the plat￭ elet count is decreased a state known as thro￭ m￭ bo￭ cy￭ top￭ enia plat￭ elet antigens are inherited from both mother and father f￭ na￭ it is caused by antibodies specific for plat￭ elet antigens inherited from the father but which are absent in the mother fe￭ tom￭ ater￭ nal trans￭ fu￭ sions or fe￭ tom￭ ater￭ nal hemorrha￭ ge results in the recognition of these antigens by the mother s immune system as non self with the subsequent generation of allo reactive antibodies which cross the plac￭ enta na￭ it hence is caused by trans￭ plac￭ ental passage of maternal plat￭ elet specific allo￭ anti￭ body and rarely human leuk￭ oc￭ y￭ te antigen h￭ la allo antibodies which are expressed by plat￭ el￭ ets to fet￭ uses whose plat￭ el￭ ets express the corresponding antigens na￭ it occurs in somewhere between 1 800 and 1 5000 live births more recent studies of na￭ it seem to indicate that it occurs in around 1 600 live births in the caucasian population
necro￭ tizing enter￭ o￭ co￭ li￭ tis
me￭ con￭ ium per￭ it￭ oni￭ tis
me￭ con￭ ium per￭ it￭ oni￭ tis refers to rupture of the bo￭ wel prior to birth resulting in fe￭ tal sto￭ ol me￭ con￭ ium escaping into the surrounding space per￭ it￭ on￭ eu￭ m leading to infl￭ amm￭ ation per￭ it￭ oni￭ tis despite the bo￭ wel rupture many infants born after me￭ con￭ ium per￭ it￭ oni￭ tis in uter￭ o have normal bo￭ wels and have no further issues infants with c￭ ys￭ tic fi￭ bro￭ sis are at increased risk for me￭ con￭ ium per￭ it￭ oni￭ tis
er￭ y￭ them￭ a tox￭ ic￭ um ne￭ on￭ at￭ orum
er￭ y￭ them￭ a tox￭ ic￭ um ne￭ on￭ at￭ orum also known as er￭ y￭ them￭ a tox￭ ic￭ um ur￭ tic￭ aria ne￭ on￭ at￭ orum and toxic er￭ y￭ them￭ a of the new￭ born is a common rash in ne￭ on￭ ates it appears in up to half of new￭ bor￭ ns carried to term usually between day 2 – 5 after birth it does not occur outside the ne￭ on￭ atal period
peri￭ ven￭ tric￭ ular leuk￭ om￭ al￭ ac￭ ia
peri￭ ven￭ tric￭ ular leuk￭ om￭ al￭ ac￭ ia pv￭ l is a form of white matter brain injury characterized by the necro￭ sis more often co￭ ag￭ ulation of white matter near the lateral ven￭ tric￭ les it can affect new￭ bor￭ ns and less commonly fet￭ uses premature infants are at the greatest risk of the disorder affected individuals generally exhibit motor control problems or other developmental delays and they often develop cere￭ br￭ al pal￭ sy or epi￭ le￭ psy later in life
gray baby syndrome
hyper￭ ton￭ ia
hyper￭ ton￭ ia is a term sometimes used synonym￭ ously with sp￭ as￭ tic￭ ity in the literature surrounding damage to the central nervous system namely upper motor ne￭ uron le￭ sions impaired ability of damaged motor neurons to regulate descending pathways gives rise to dis￭ ordered spinal refl￭ exes increased exc￭ itability of muscle sp￭ ind￭ les and decreased syn￭ ap￭ tic inhi￭ bi￭ tion these consequences result in abnormally increased muscle tone of symptomatic muscles some authors suggest that the current definition for sp￭ as￭ tic￭ ity the velocity dependent over activity of the stretch reflex is not sufficient as it fails to take into account patients exhi￭ biting increased muscle tone in the absence of stretch reflex over activity they instead suggest that “ reversible hyper￭ ton￭ ia ” is more appropriate and represents a
hyper￭ ton￭ ia is a term sometimes used synonym￭ ously with sp￭ as￭ tic￭ ity in the literature surrounding damage to the central nervous system namely upper motor ne￭ uron le￭ sions impaired ability of damaged motor neurons to regulate descending pathways gives rise to dis￭ ordered spinal refl￭ exes increased exc￭ itability of muscle sp￭ ind￭ les and decreased syn￭ ap￭ tic inhi￭ bi￭ tion these consequences result in abnormally increased muscle tone of symptomatic muscles some authors suggest that the current definition for sp￭ as￭ tic￭ ity the velocity dependent over activity of the stretch reflex is not sufficient as it fails to take into account patients exhi￭ biting increased muscle tone in the absence of stretch reflex over activity they instead suggest that “ reversible hyper￭ ton￭ ia ” is more appropriate and represents a treat￭ able condition that is responsive to various therapy modalities like drug and or physical therapy symptoms associated with central nervous systems disorders are classified into positive and negative categories positive symptoms include those that increase muscle activity through hyper exc￭ itability of the stretch reflex i e rigidity and sp￭ as￭ tic￭ ity where negative symptoms include those of insufficient muscle activity i e weakness and reduced motor function often the two classifications are thought to be separate entities of a disorder however some authors propose that they may be closely related
still￭ birth
still￭ birth is typically defined as fe￭ tal death at or after 20 to 28 weeks of pregnancy it results in a baby born without signs of life a still￭ birth can result in the feeling of guilt in the mother the term is in contrast to mis￭ carriage which is an early pregnancy loss and live birth where the baby is born alive even if it dies shortly thereafter
still￭ birth is typically defined as fe￭ tal death at or after 20 to 28 weeks of pregnancy it results in a baby born without signs of life a still￭ birth can result in the feeling of guilt in the mother the term is in contrast to mis￭ carriage which is an early pregnancy loss and live birth where the baby is born alive even if it dies shortly thereafter often the cause is unknown causes may include pregnancy complications such as pre￭ ec￭ lam￭ p￭ sia and birth complications problems with the plac￭ enta or um￭ bil￭ ical cord birth defects infections such as malaria and poor health in the mother risk factors include a mother s age over 35 first pregnancy smoking drug use use of assisted reproductive technology still￭ birth maybe suspected when no fe￭ tal movement is felt confirmation is by ul￭ tras￭ ound worldwide prevention of most still￭ births is possible with improved health systems about half of still￭ births occur during childbirth with this being more common in the developing than developed world otherwise depending on how far along the pregnancy is medications may be used to start labor or a type of surgery known as dil￭ ation and evacuation may be carried out following a still￭ birth women are at higher risk of another one however most subsequent pregnancies do not have similar problems depression financial loss and family breakdown are known complications worldwide in 2015 there were about 2 6 million still￭ births that occurred after 28 weeks of pregnancy about 1 for every 45 births they occur most commonly in the developing world particularly south asia and sub saharan africa in the united states for every 167 births there is one still￭ birth rates of still￭ birth in the united states have decreased by about 2 3 r￭ ds since the 1950 s
ne￭ ural tube defect
ne￭ ural tube defects nt￭ ds are a group of conditions in which an opening in the spinal cord or brain remains from early in human development in the 3 rd week of pregnancy called ga￭ str￭ ulation specialized cells on the dor￭ sal side of the embryo begin to change shape and form the ne￭ ural tube when the ne￭ ural tube does not close completely an n￭ td develops specific types include sp￭ ina bi￭ fi￭ da which affects the sp￭ ine an￭ encephal￭ y which results in little to no brain encephal￭ oce￭ le which affects the skull and ini￭ encephal￭ y which results in severe neck problems
ac￭ ran￭ ia
ac￭ ran￭ ia is a rare con￭ genital disorder that occurs in the human fe￭ tus in which the flat bones in the cran￭ ial vault are either completely or partially absent the cere￭ br￭ al hemis￭ ph￭ er￭ es develop completely but abnormally the condition is frequently though not always associated with an￭ encephal￭ y the fe￭ tus is said to suffer from ac￭ ran￭ ia if it meets the following criteria the fe￭ tus should have a perfectly normal facial bone a normal cer￭ vic￭ al column but without the fe￭ tal skull and a volume of brain tissue equivalent to at least one third of the normal brain size
an￭ encephal￭ y
an￭ encephal￭ y is the absence of a major portion of the brain skull and scal￭ p that occurs during embryonic development it is a cephal￭ ic disorder that results from a ne￭ ural tube defect that occurs when the ro￭ str￭ al head end of the ne￭ ural tube fails to close usually between the 23 rd and 26 th day following conception strictly speaking the greek term translates as no in head that is totally lacking the inside part of the head i e the brain but it is accepted that children born with this disorder usually only lack a tel￭ encephal￭ on the largest part of the brain consisting mainly of the cere￭ br￭ al hemis￭ ph￭ er￭ es including the ne￭ oc￭ or￭ tex which is responsible for cogn￭ ition the remaining structure is usually covered only by a thin layer of memb￭ rane — skin bone men￭ inges etc are all l￭ ack￭ in
encephal￭ oce￭ le
encephal￭ oce￭ le sometimes known as cran￭ ium bi￭ fi￭ dum is a ne￭ ural tube defect characterized by s￭ ac like pro￭ tru￭ sions of the brain and the memb￭ ran￭ es that cover it through openings in the skull these defects are caused by failure of the ne￭ ural tube to close completely during fe￭ tal development encephal￭ oc￭ el￭ es cause a gro￭ ove down the middle of the skull or between the fore￭ head and nose or on the back side of the skull the severity of encephal￭ oce￭ le varies depending on its location
micro￭ cephal￭ y
micro￭ cephal￭ y is a medical condition in which the brain does not develop properly resulting in a smaller than normal head micro￭ cephal￭ y may be present at birth or it may develop in the first few years of life often people with the disorder have an intellectual disability poor motor function poor speech abnormal facial features seizures and dwar￭ f￭ ism
micro￭ cephal￭ y is a medical condition in which the brain does not develop properly resulting in a smaller than normal head micro￭ cephal￭ y may be present at birth or it may develop in the first few years of life often people with the disorder have an intellectual disability poor motor function poor speech abnormal facial features seizures and dwar￭ f￭ ism the disorder may stem from a wide variety of conditions that cause abnormal growth of the brain or from syndro￭ mes associated with chro￭ mo￭ som￭ al ab￭ norm￭ alities a homo￭ zy￭ g￭ ous mutation in one of the micro￭ cephal￭ in genes causes primary micro￭ cephal￭ y it serves as an important neuro￭ logical indication or warning sign but no uniformity exists in its definition it is usually defined as a head circum￭ fer￭ ence hc more than two standard deviations below the mean for age and sex some academics advocate defining it as head circum￭ fer￭ ence more than three standard deviations below the mean for the age and sex there is no specific treatment that returns the head size to normal in general life expectancy for individuals with micro￭ cephal￭ y is reduced and the prog￭ no￭ sis for normal brain function is poor occasionally some will grow normally and develop normal intelligence
dan￭ dy – walker syndrome
dan￭ dy – walker syndrome d￭ ws is a rare group of con￭ genital human brain mal￭ formations there are three sub￭ types which affect multiple organs to varying degrees but the fundamental ab￭ norm￭ alities involve the cere￭ bell￭ um which controls muscle coordination the adjacent fourth ven￭ tric￭ le is often affected which can alter the flow of cere￭ bro￭ spinal fluid increase in￭ trac￭ ran￭ ial pressure and lead to multiple other brain function problems the degree of disability varies but is typically lifelong treatment may involve physical therapy special education or surgical placement of a cere￭ br￭ al sh￭ unt it is named for walter dan￭ dy and arthur earl walker
a￭ ic￭ ardi syndrome
holo￭ pro￭ sen￭ cephal￭ y
holo￭ pro￭ sen￭ cephal￭ y h￭ pe once known as ar￭ hin￭ encephal￭ y is a cephal￭ ic disorder in which the pro￭ sen￭ cephal￭ on the fore￭ brain of the embryo fails to develop into two hemis￭ ph￭ er￭ es normally the fore￭ brain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy the condition also occurs in other species the condition can be mild or severe according to the national institute of neuro￭ logical disorders and stroke nin￭ ds in most cases of holo￭ pro￭ sen￭ cephal￭ y the mal￭ formations are so severe that babies die before birth
jou￭ bert syndrome
lis￭ sen￭ cephal￭ y
sep￭ to op￭ tic dys￭ pl￭ asia
sep￭ to op￭ tic dys￭ pl￭ asia so￭ d de mor￭ si￭ er syndrome is a rare con￭ genital mal￭ formation syndrome featuring underdevelopment of the op￭ tic nerve pit￭ u￭ itary g￭ land dysfunction and absence of the sep￭ tum p￭ ell￭ u￭ ci￭ dum a mid￭ line part of the brain two of these features need to be present for a clinical diagnosis — only 30 of patients have all three ne￭ ur￭ or￭ adi￭ o￭ logically in￭ trac￭ ran￭ ial mal￭ formations associated with sep￭ to op￭ tic dys￭ pl￭ asia include agen￭ esis of the sep￭ tum p￭ ell￭ u￭ ci￭ dum schiz￭ encephal￭ y and lob￭ ar holo￭ pro￭ sen￭ cephal￭ y
cor￭ tical dys￭ pl￭ asia
focal cor￭ tical dys￭ pl￭ asia f￭ cd is a con￭ genital ab￭ normality of brain development where the neurons in an area of the brain failed to migrate in the proper formation in uter￭ o focal cor￭ tical dys￭ pl￭ asia is a common cause of intractable epi￭ le￭ psy in children and is a frequent cause of epi￭ le￭ psy in adults there are several sub￭ types of f￭ cd including type 1 a 1 b 2 a 2 b 3 a 3 b and 3 c each with distinct hist￭ opath￭ ological features all forms of focal cor￭ tical dys￭ pl￭ asia lead to dis￭ organization of the normal structure of the cere￭ br￭ al cor￭ tex type 1 f￭ cd exhi￭ bits subtle alterations in cor￭ tical lam￭ ination type 2 a f￭ cd exhi￭ bits neurons that are larger than normal that are called cy￭ tom￭ eg￭ al￭ ic dys￭ morph￭ ic neurons c￭ dn f￭ cd type 2 b exhi￭ bits complete loss of lam￭ in￭ ar structure and the presence of c￭ dn and en￭ l
schiz￭ encephal￭ y
schiz￭ encephal￭ y from greek sk￭ hi￭ ze￭ in meaning to split and en￭ ke￭ p￭ hal￭ os meaning brain is a rare birth defect characterized by abnormal cle￭ f￭ ts lined with grey matter that form the ep￭ end￭ y￭ ma of the cere￭ br￭ al ven￭ tric￭ les to the p￭ ia mat￭ er these cle￭ f￭ ts can occur bilaterally or unilaterally common clinical features of this mal￭ formation include epi￭ le￭ psy motor deficits and psy￭ ch￭ om￭ o￭ tor retar￭ dation
sp￭ ina bi￭ fi￭ da
sp￭ ina bi￭ fi￭ da latin split sp￭ ine is a birth defect where there is incomplete closing of the backbone and memb￭ ran￭ es around the spinal cord there are three main types sp￭ ina bi￭ fi￭ da oc￭ cul￭ ta men￭ in￭ go￭ ce￭ le and my￭ el￭ omen￭ in￭ go￭ ce￭ le the most common location is the lower back but in rare cases it may be the middle back or neck oc￭ cul￭ ta has no or only mild signs signs of oc￭ cul￭ ta may include a ha￭ iry patch dim￭ ple dark spot or sw￭ elling on the back at the site of the gap in the sp￭ ine men￭ in￭ go￭ ce￭ le typically causes mild problems with a s￭ ac of fluid present at the gap in the sp￭ ine my￭ el￭ omen￭ in￭ go￭ ce￭ le also known as open sp￭ ina bi￭ fi￭ da is the most severe form associated problems include poor ability to walk problems with blad￭ der or bo￭ wel control hydro￭ cephal￭ us a te￭ thered spinal cord and lat￭ ex aller￭ g
di￭ ast￭ em￭ atom￭ ye￭ lia
di￭ ast￭ em￭ atom￭ ye￭ lia occasionally di￭ ast￭ om￭ ye￭ lia is a con￭ genital disorder in which a part of the spinal cord is split usually at the level of the upper lum￭ bar verte￭ bra di￭ ast￭ em￭ atom￭ ye￭ lia is a rare con￭ genital anomaly that results in the splitting of the spinal cord in a longit￭ ud￭ inal sag￭ it￭ tal direction females are affected much more commonly than males this condition occurs in the presence of an osse￭ ous bone car￭ ti￭ lag￭ inous or fi￭ bro￭ us sep￭ tum in the central portion of the spinal canal which then produces a complete or incomplete sag￭ it￭ tal division of the spinal cord into two hemic￭ ords when the split does not re￭ unite dist￭ ally to the spur the condition is referred to as a diplom￭ ye￭ lia or true duplication of the spinal cord
te￭ thered spinal cord syndrome
te￭ thered cord syndrome tcs or oc￭ cult spinal dys￭ rap￭ h￭ ism sequence refers to a group of neuro￭ logical disorders that relate to mal￭ formations of the spinal cord various forms include tight fil￭ um termin￭ ale li￭ po￭ men￭ ing￭ om￭ yel￭ oce￭ le split cord mal￭ formations di￭ ast￭ em￭ atom￭ ye￭ lia der￭ mal sin￭ us tracts der￭ mo￭ ids
arnold – chi￭ ari mal￭ formation
chi￭ ari mal￭ formation also known as arnold – chi￭ ari mal￭ formation is a mal￭ formation of the skull it consists of a downward displacement of the cere￭ bell￭ ar ton￭ si￭ ls through the for￭ amen magn￭ um the opening at the base of the skull sometimes causing non communicating hydro￭ cephal￭ us as a result of obstruction of cere￭ bro￭ spinal fluid c￭ sf outflow the cere￭ bro￭ spinal fluid outflow is caused by phase difference in outflow and influx of blood in the vas￭ cul￭ ature of the brain it can cause headaches fatigue muscle weakness difficulty sw￭ allowing sometimes accompanied by g￭ agging choking and v￭ om￭ iting di￭ zz￭ iness naus￭ ea tin￭ nit￭ us impaired coordination neck pain un￭ steady ga￭ it problems with balance poor hand coordination fine motor skills num￭ b￭ ness and ting￭ ling of the hands and feet and speech
marcus gun￭ n phenomenon
marcus gun￭ n phenomenon also known as marcus gun￭ n jaw win￭ king or tri￭ gem￭ ino oc￭ ul￭ om￭ o￭ tor syn￭ kin￭ esis is an auto￭ som￭ al dominant condition with incomplete penetr￭ ance in which nursing infants will have rhy￭ th￭ mic upward jer￭ king of their upper eye￭ lid this condition is characterized as a syn￭ kin￭ esis when two or more muscles that are independently in￭ nerv￭ ated have either simultaneous or coordinated movements
dis￭ tic￭ hia
a dis￭ tic￭ hia is an e￭ yel￭ ash that arises from an abnormal spot on the eye￭ lid this ab￭ normality attributed to a genetic mutation is known to affect dogs and humans dis￭ tic￭ hi￭ ae the abnormal e￭ yel￭ ash usually exit from the duc￭ t of the me￭ i￭ bom￭ ian g￭ land at the eye￭ lid margin they are usually multiple and sometimes more than one arises from a duc￭ t they can affect either the upper or lower eye￭ lid and are usually bilateral the lower eye￭ li￭ ds of dogs usually have no e￭ yel￭ ashes
a dis￭ tic￭ hia is an e￭ yel￭ ash that arises from an abnormal spot on the eye￭ lid this ab￭ normality attributed to a genetic mutation is known to affect dogs and humans dis￭ tic￭ hi￭ ae the abnormal e￭ yel￭ ash usually exit from the duc￭ t of the me￭ i￭ bom￭ ian g￭ land at the eye￭ lid margin they are usually multiple and sometimes more than one arises from a duc￭ t they can affect either the upper or lower eye￭ lid and are usually bilateral the lower eye￭ li￭ ds of dogs usually have no e￭ yel￭ ashes dis￭ tic￭ hi￭ ae usually cause no symptoms because the l￭ ashes are soft but they can irrit￭ ate the eye and cause tearing squ￭ in￭ ting infl￭ amm￭ ation and cor￭ ne￭ al ul￭ cers and scar￭ ring treatment options include manual removal electro￭ lysis electro￭ cau￭ tery cry￭ otherapy and surgery
co￭ lob￭ oma
a co￭ lob￭ oma from the greek ko￭ lob￭ oma meaning defect is a hole in one of the structures of the eye such as the iris re￭ tina chor￭ o￭ id or op￭ tic dis￭ c the hole is present from birth and can be caused when a gap called the chor￭ o￭ id fis￭ sure which is present during early stages of pre￭ natal development fails to close up completely before a child is born the classical description in medical literature is of a key hole shaped defect a co￭ lob￭ oma can occur in one eye unilateral or both eyes bilateral most cases of co￭ lob￭ oma affect only the iris people with co￭ lob￭ oma may have no vision problems or may be blind depending on severity it affects less than one in every 10 000 births
an￭ oph￭ thal￭ mia
an￭ oph￭ thal￭ mia greek αν￭ ό￭ φ￭ θ￭ α￭ λ￭ μο￭ ς without eye is the medical term for the absence of one or both eyes both the globe human eye and the oc￭ ular tissue are missing from the orbit the absence of the eye will cause a small bon￭ y orbit a con￭ stric￭ ted mu￭ cos￭ al socket short eye￭ li￭ ds reduced pal￭ pe￭ br￭ al fis￭ sure and mal￭ ar prominence genetic mutations chro￭ mo￭ som￭ al ab￭ norm￭ alities and pre￭ natal environment can all cause an￭ oph￭ thal￭ mia an￭ oph￭ thal￭ mia is an extremely rare disease and is mostly rooted in genetic ab￭ norm￭ alities it can also be associated with other syndro￭ mes
micro￭ phthal￭ mia
micro￭ phthal￭ mia greek μ￭ ικ￭ ρ￭ ός micro￭ s small ὀ￭ φ￭ θ￭ α￭ λ￭ μ￭ ός oph￭ thal￭ mos eye also referred as micro￭ phthal￭ mos is a developmental disorder of the eye in which one unilateral micro￭ phthal￭ mia or both bilateral micro￭ phthal￭ mia eyes are abnormally small and have an￭ atomic mal￭ formations it is different from nan￭ oph￭ thal￭ mos in which the eye is small in size but has no anatom￭ ical alterations
ani￭ ri￭ dia
ani￭ ri￭ dia is the absence of the iris usually involving both eyes it can be con￭ genital or caused by a penetr￭ ant injury isolated ani￭ ri￭ dia is a con￭ genital disorder which is not limited to a defect in iris development but is a pan￭ oc￭ ular condition with mac￭ ular and op￭ tic nerve hypo￭ pl￭ asia cat￭ ar￭ act and cor￭ ne￭ al changes vision may be severely compromised and the disorder is frequently associated with a number of oc￭ ular complications ny￭ stag￭ mus am￭ bl￭ y￭ op￭ ia bu￭ phthal￭ mos and cat￭ ar￭ act ani￭ ri￭ dia in some individuals occurs as part of a syndrome such as wag￭ r syndrome kidney ne￭ ph￭ ro￭ bl￭ ast￭ oma wil￭ ms tum￭ our gen￭ it￭ our￭ inary anomalies and intellectual disability or gill￭ es￭ pie syndrome cere￭ bell￭ ar at￭ ax￭ ia
heter￭ och￭ ro￭ mia i￭ ri￭ dum
in anatomy heter￭ och￭ ro￭ mia ancient greek ἕ￭ τε￭ ρο￭ ς hé￭ ter￭ os different χρ￭ ώ￭ μα chr￭ ó￭ ma color is a difference in color￭ ation usually of the iris but also of hair or skin heter￭ och￭ ro￭ mia is a result of the relative excess or lack of mel￭ an￭ in a pig￭ ment it may be inherited or caused by genetic mo￭ sa￭ ic￭ ism chim￭ er￭ ism disease or injury
hydro￭ phthal￭ mos
hydro￭ phthal￭ mos is a con￭ genital form of gl￭ au￭ coma
ker￭ at￭ og￭ lo￭ bus
ker￭ at￭ og￭ lo￭ bus from greek ker￭ ato horn cor￭ ne￭ a and latin glo￭ bus round is a degenerative non infl￭ am￭ matory disorder of the eye in which structural changes within the cor￭ ne￭ a cause it to become extremely thin and change to a more glob￭ ular shape than its normal gradual curve it causes cor￭ ne￭ al thin￭ ning primarily at the margins resulting in a spher￭ ical slightly enlarged eye it is sometimes equ￭ ated with me￭ gal￭ oc￭ or￭ ne￭ a
nor￭ rie disease
nor￭ rie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness in addition to the con￭ genital oc￭ ular symptoms some patients suffer from a progressive hearing loss starting mostly in their 2 nd decade of life while another portion may be mentally challenged
accessory aur￭ ic￭ le
an accessory aur￭ ic￭ le is considered a developmental anomaly resulting from the persistence of a structure which vari￭ ably recapit￭ ul￭ ates the normal external ear
micro￭ tia
micro￭ tia is a con￭ genital de￭ form￭ ity where the pin￭ na external ear is underdeveloped a completely un￭ developed pin￭ na is referred to as ano￭ tia because micro￭ tia and ano￭ tia have the same origin it can be referred to as micro￭ tia ano￭ tia micro￭ tia can be unilateral one side only or bilateral affecting both sides micro￭ tia occurs in 1 out of about 8 000 – 10 000 births in unilateral micro￭ tia the right ear is most commonly affected it may occur as a complic￭ ation of taking accu￭ tane iso￭ tre￭ tin￭ o￭ in during pregnancy
con￭ genital heart defect
con￭ genital heart defect ch￭ d also known as a con￭ genital heart anomaly or con￭ genital heart disease is a problem in the structure of the heart that is present at birth signs and symptoms depend on the specific type of problem symptoms can vary from none to life threatening when present they may include rapid breathing blu￭ ish skin poor weight gain and feeling tired it does not cause chest pain most con￭ genital heart problems do not occur with other diseases complications that can result from heart defects include heart failure
persistent trun￭ cus arter￭ io￭ sus
double outlet right ven￭ tric￭ le
transposition of the great vessels
le￭ vo transposition of the great arter￭ ies
le￭ vo transposition of the great arter￭ ies l transposition of the great arter￭ ies le￭ vo t￭ ga or l t￭ ga also commonly referred to as con￭ gen￭ it￭ ally corrected transposition of the great arter￭ ies cc t￭ ga is an ac￭ yan￭ otic con￭ genital heart defect ch￭ d in which the primary arter￭ ies the a￭ or￭ ta and the pul￭ mon￭ ary artery are transposed with the a￭ or￭ ta an￭ terior and to the left of the pul￭ mon￭ ary artery the mor￭ pho￭ logical left and right ven￭ tric￭ les with their corresponding atri￭ o￭ ven￭ tric￭ ular valves are also transposed
le￭ vo transposition of the great arter￭ ies l transposition of the great arter￭ ies le￭ vo t￭ ga or l t￭ ga also commonly referred to as con￭ gen￭ it￭ ally corrected transposition of the great arter￭ ies cc t￭ ga is an ac￭ yan￭ otic con￭ genital heart defect ch￭ d in which the primary arter￭ ies the a￭ or￭ ta and the pul￭ mon￭ ary artery are transposed with the a￭ or￭ ta an￭ terior and to the left of the pul￭ mon￭ ary artery the mor￭ pho￭ logical left and right ven￭ tric￭ les with their corresponding atri￭ o￭ ven￭ tric￭ ular valves are also transposed use of the term corrected has been disputed by many due to the frequent occurrence of other ab￭ norm￭ alities and or acquired disorders in l t￭ ga patients in seg￭ mental analysis this condition is described as atri￭ o￭ ven￭ tric￭ ular dis￭ cord￭ ance ven￭ tric￭ ular in￭ version with ven￭ tric￭ ul￭ o￭ arter￭ ial dis￭ cord￭ ance l t￭ ga is often referred to simply as transposition of the great arter￭ ies t￭ ga however t￭ ga is a more general term which may also refer to d￭ extr￭ o transposition of the great arter￭ ies d t￭ ga another term commonly used to refer to both l t￭ ga and d t￭ ga is transposition of the great vessels tg￭ v although this term can have an even broader meaning than t￭ ga
ven￭ tric￭ ular sep￭ tal defect
a ven￭ tric￭ ular sep￭ tal defect v￭ s￭ d is a defect in the ven￭ tric￭ ular sep￭ tum the wall dividing the left and right ven￭ tric￭ les of the heart the extent of the opening may vary from pin size to complete absence of the ven￭ tric￭ ular sep￭ tum creating one common ven￭ tric￭ le the ven￭ tric￭ ular sep￭ tum consists of an inferior muscular and superior memb￭ ran￭ ous portion and is extensively in￭ nerv￭ ated with conducting cardi￭ om￭ y￭ oc￭ y￭ tes memb￭ ran￭ ous ven￭ tric￭ ular sep￭ tal defects are more common than muscular ven￭ tric￭ ular sep￭ tal defects and are the most common con￭ genital cardiac anomaly
atri￭ al sep￭ tal defect
atri￭ al sep￭ tal defect as￭ d is a con￭ genital heart defect in which blood flows between the atri￭ a upper chambers of the heart normally the atri￭ a are separated by a dividing wall the inter￭ atri￭ al sep￭ tum if this sep￭ tum is defective or absent then oxygen rich blood can flow directly from the left side of the heart to mix with the oxygen poor blood in the right side of the heart or vice versa this can lead to lower than normal oxygen levels in the arter￭ ial blood that supplies the brain organs and tissues however an as￭ d may not produce noticeable signs or symptoms especially if the defect is small
atri￭ o￭ ven￭ tric￭ ular sep￭ tal defect
tetr￭ alo￭ gy of fal￭ lot
tetr￭ alo￭ gy of fal￭ lot t￭ of is a con￭ genital heart defect that is present at birth symptoms include episodes of blu￭ ish color to the skin when affected babies cry or have a bo￭ wel movement they may develop a tet spell where they turn very blue have a hard time breathing become lim￭ p and occasionally lose consciousness other symptoms may include a heart mur￭ m￭ ur finger clu￭ bbing and easy ti￭ ring with breastfeeding
eisen￭ m￭ enger s syndrome
eisen￭ m￭ enger s syndrome or es eisen￭ m￭ enger s reaction eisen￭ m￭ enger physi￭ ology or tar￭ dive cyan￭ osis is defined as the process in which a long standing left to right cardiac sh￭ unt caused by a con￭ genital heart defect typically by a ven￭ tric￭ ular sep￭ tal defect atri￭ al sep￭ tal defect or less commonly patent duc￭ tus arter￭ io￭ sus causes pul￭ mon￭ ary hyper￭ tension and eventual reversal of the sh￭ unt into a cyan￭ otic right to left sh￭ unt because of the advent of fe￭ tal screening with echo￭ cardi￭ o￭ graphy early in life the incidence of heart defects progressing to eisen￭ m￭ enger s has decreased
tric￭ us￭ pid at￭ re￭ sia
tric￭ us￭ pid at￭ re￭ sia is a form of con￭ genital heart disease whereby there is a complete absence of the tric￭ us￭ pid valve therefore there is an absence of right atri￭ o￭ ven￭ tric￭ ular connection this leads to a hypo￭ plastic under￭ sized or absent right ven￭ tric￭ le this defect is contracted during pre￭ natal development when the heart does not finish developing it causes the heart to be unable to properly oxy￭ gen￭ ate the rest of the blood in the body because of this the body does not have enough oxygen to live so other defects must occur to maintain blood flow because of the lack of an a v connection an atri￭ al sep￭ tal defect as￭ d must be present to fill the left ven￭ tric￭ le with blood also since there is a lack of a right ven￭ tric￭ le there must be a way to pump blood into the pul￭ mon￭ ary arter￭ ies and th
eb￭ stein s anomaly
eb￭ stein s anomaly is a con￭ genital heart defect in which the sep￭ tal and poster￭ ior leaf￭ lets of the tric￭ us￭ pid valve are displaced towards the ap￭ ex of the right ven￭ tric￭ le of the heart
hypo￭ plastic left heart syndrome
hypo￭ plastic left heart syndrome hl￭ hs is a rare con￭ genital heart defect in which the left heart is severely underdeveloped the international working group for mapping and coding of nomencl￭ atures for paediatric and con￭ genital heart disease defined hl￭ hs as
hypo￭ plastic left heart syndrome hl￭ hs is a rare con￭ genital heart defect in which the left heart is severely underdeveloped the international working group for mapping and coding of nomencl￭ atures for paediatric and con￭ genital heart disease defined hl￭ hs as a spectrum of cardiac mal￭ formations with normally aligned great arter￭ ies without a common atri￭ o￭ ven￭ tric￭ ular junction characterized by underdevelopment of the left heart with significant hypo￭ pl￭ asia of the left ven￭ tric￭ le including at￭ re￭ sia sten￭ osis or hypo￭ pl￭ asia of the a￭ or￭ tic or mit￭ ral valve or both valves and hypo￭ pl￭ asia of the asc￭ ending a￭ or￭ ta and a￭ or￭ tic arch — t￭ cher￭ ven￭ kov et al p 344
d￭ ext￭ ro￭ car￭ dia
ec￭ top￭ ia cord￭ is
ec￭ top￭ ia cord￭ is greek away out of place latin heart is a con￭ genital mal￭ formation in which the heart is abnormally located either partially or totally outside of the thor￭ ax the ec￭ topic heart can be found along a spectrum of anatom￭ ical locations including the neck chest or ab￭ dom￭ en in most cases the heart pro￭ tru￭ des outside the chest through a split ster￭ num
patent duc￭ tus arter￭ io￭ sus
patent duc￭ tus arter￭ io￭ sus p￭ da is a condition where￭ in the duc￭ tus arter￭ io￭ sus fails to close after birth early symptoms are un￭ common but in the first year of life include increased work of breathing and poor weight gain an un￭ corrected p￭ da may lead to cong￭ estive heart failure with increasing age
co￭ arc￭ tation of the a￭ or￭ ta
co￭ arc￭ tation of the a￭ or￭ ta co￭ a or co￭ ao also called a￭ or￭ tic narrowing is a con￭ genital condition whereby the a￭ or￭ ta is narrow usually in the area where the duc￭ tus arter￭ io￭ sus lig￭ am￭ ent￭ um arter￭ io￭ sum after regression inser￭ ts the word “ co￭ arc￭ tation ” means narrowing co￭ arc￭ tations are most common in the a￭ or￭ tic arch the arch may be small in babies with co￭ arc￭ tations other heart defects may also occur when co￭ arc￭ tation is present typically occurring on the left side of the heart when a patient has a co￭ arc￭ tation the left ven￭ tric￭ le has to work harder since the a￭ or￭ ta is narrowed the left ven￭ tric￭ le must generate a much higher pressure than normal in order to force enough blood through the a￭ or￭ ta to deliver blood to the lower part of the body if the narrowing is severe enough the left ven￭ tric￭ le m
interrupted a￭ or￭ tic arch
interrupted a￭ or￭ tic arch is a very rare heart defect affecting 3 per million live births in which the a￭ or￭ ta is not completely developed there is a gap between the asc￭ ending and descending thor￭ ac￭ ic a￭ or￭ ta in a sense it is the complete form of a co￭ arc￭ tation of the a￭ or￭ ta almost all patients also have other cardiac anomalies including a ven￭ tric￭ ular sep￭ tal defect v￭ s￭ d a￭ or￭ to pul￭ mon￭ ary window and trun￭ cus arter￭ io￭ sus interrupted a￭ or￭ tic arch is often associated with di￭ george syndrome
pul￭ mon￭ ary at￭ re￭ sia
pul￭ mon￭ ary at￭ re￭ sia is a con￭ genital mal￭ formation of the pul￭ mon￭ ary valve in which the valve ori￭ fice fails to develop the valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs the pul￭ mon￭ ary valve is located on the right side of the heart between the right ven￭ tric￭ le and pul￭ mon￭ ary artery in a normal functioning heart the opening to the pul￭ mon￭ ary valve has three fl￭ aps that open and close
anom￭ alous pul￭ mon￭ ary ven￭ ous connection
anom￭ alous pul￭ mon￭ ary ven￭ ous connection or anom￭ alous pul￭ mon￭ ary ven￭ ous drainage or anom￭ alous pul￭ mon￭ ary ven￭ ous return is a con￭ genital defect of the pul￭ mon￭ ary ve￭ ins
arter￭ io￭ ven￭ ous mal￭ formation
arter￭ io￭ ven￭ ous mal￭ formation av￭ m is an abnormal connection between arter￭ ies and ve￭ ins bypassing the cap￭ ill￭ ary system this vascular anomaly is widely known because of its occurrence in the central nervous system but can appear in any location although many av￭ ms are as￭ ymp￭ tomatic they can cause intense pain or bleeding or lead to other serious medical problems
aberr￭ ant sub￭ cl￭ avian artery
cere￭ br￭ al arter￭ io￭ ven￭ ous mal￭ formation
a cere￭ br￭ al arter￭ io￭ ven￭ ous mal￭ formation av￭ m is an abnormal connection between the arter￭ ies and ve￭ ins in the brain
cho￭ anal at￭ re￭ sia
lar￭ yn￭ gom￭ al￭ ac￭ ia
lar￭ yn￭ gom￭ al￭ ac￭ ia literally soft lar￭ yn￭ x is the most common cause of stri￭ dor in infancy in which the soft immature car￭ til￭ age of the upper lar￭ yn￭ x collapses inward during inhal￭ ation causing air￭ way obstruction it can also be seen in older patients especially those with neuro￭ muscular conditions resulting in weakness of the muscles of the throat however the inf￭ anti￭ le form is much more common lar￭ yn￭ gom￭ al￭ ac￭ ia is one of the most common lar￭ yn￭ ge￭ al con￭ genital disease in infancy and public education about the signs and symptoms of the disease is lacking
trac￭ he￭ om￭ al￭ ac￭ ia
trac￭ he￭ om￭ al￭ ac￭ ia from trac￭ hea and the greek μ￭ α￭ λα￭ κ￭ ία sof￭ tening is a condition characterized by fl￭ acci￭ dity of the trac￭ heal support car￭ til￭ age which leads to trac￭ heal collapse especially when increased air￭ flow is demanded the trac￭ hea normally dil￭ ates slightly during inspiration and narro￭ ws slightly during expiration these processes are exaggerated in trac￭ he￭ om￭ al￭ ac￭ ia leading to air￭ way collapse on expiration the usual symptom of trac￭ he￭ om￭ al￭ ac￭ ia is expir￭ atory stri￭ dor or lar￭ yn￭ ge￭ al crow
pul￭ mon￭ ary sequestr￭ ation
a pul￭ mon￭ ary sequestr￭ ation bron￭ chop￭ ul￭ mon￭ ary sequestr￭ ation or c￭ ys￭ tic lung le￭ sion is a medical condition where￭ in a piece of tissue that ultimately develops into lung tissue is not attached to the pul￭ mon￭ ary arter￭ ial blood supply as is the case in normally developing lung as a result this sequ￭ est￭ ered tissue is not connected to the normal bron￭ ch￭ ial air￭ way architecture and as a result fails to function in and contribute to respir￭ ation of the organism
pul￭ mon￭ ary hypo￭ pl￭ asia
pul￭ mon￭ ary hypo￭ pl￭ asia is incomplete development of the lungs resulting in an abnormally low number or size of bron￭ chop￭ ul￭ mon￭ ary segments or al￭ ve￭ oli a con￭ genital mal￭ formation it most often occurs secondary to other fe￭ tal ab￭ norm￭ alities that interfere with normal development of the lungs primary idi￭ opathic pul￭ mon￭ ary hypo￭ pl￭ asia is rare and usually not associated with other maternal or fe￭ tal ab￭ norm￭ alities
con￭ genital pul￭ mon￭ ary air￭ way mal￭ formation
con￭ genital pul￭ mon￭ ary air￭ way mal￭ formation cp￭ am formerly known as con￭ genital c￭ ys￭ tic aden￭ om￭ ato￭ id mal￭ formation cc￭ am is a con￭ genital disorder of the lung similar to bron￭ chop￭ ul￭ mon￭ ary sequestr￭ ation in cp￭ am usually an entire lo￭ be of lung is replaced by a non working c￭ ys￭ tic piece of abnormal lung tissue this abnormal tissue will never function as normal lung tissue the underlying cause for cp￭ am is unknown it occurs in approximately 1 in every 30 000 pregnancies
cle￭ ft lip and cle￭ ft pal￭ ate
cle￭ ft lip and cle￭ ft pal￭ ate also known as oro￭ facial cle￭ ft is a group of conditions that includes cle￭ ft lip cl cle￭ ft pal￭ ate cp and both together cl￭ p a cle￭ ft lip contains an opening in the upper lip that may extend into the nose the opening may be on one side both sides or in the middle a cle￭ ft pal￭ ate is when the roof of the mouth contains an opening into the nose these disorders can result in feeding problems speech problems hearing problems and frequent ear infections less than half the time the condition is associated with other disorders
cle￭ ft lip and cle￭ ft pal￭ ate also known as oro￭ facial cle￭ ft is a group of conditions that includes cle￭ ft lip cl cle￭ ft pal￭ ate cp and both together cl￭ p a cle￭ ft lip contains an opening in the upper lip that may extend into the nose the opening may be on one side both sides or in the middle a cle￭ ft pal￭ ate is when the roof of the mouth contains an opening into the nose these disorders can result in feeding problems speech problems hearing problems and frequent ear infections less than half the time the condition is associated with other disorders cle￭ ft lip and pal￭ ate are the result of tissues of the face not joining properly during development as such they are a type of birth defect the cause is unknown in most cases risk factors include smoking during pregnancy diabetes obesity an older mother and certain medications such as some used to treat seizures cle￭ ft lip and cle￭ ft pal￭ ate can often be diagnosed during pregnancy with an ul￭ tras￭ ound exam a cle￭ ft lip or pal￭ ate can be successfully treated with surgery this is often done in the first few months of life for cle￭ ft lip and before eighteen months for cle￭ ft pal￭ ate speech therapy and dental care may also be needed with appropriate treatment outcomes are good cle￭ ft lip and pal￭ ate occurs in about 1 to 2 per 1000 births in the developed world cl is about twice as common in males as females while cp without cl is more common in females in 2013 it resulted in about 3 300 deaths globally down from 7 600 deaths in 1990 the condition was formerly known as a hare lip because of its resemblance to a hare or rabbit but that term is now generally considered to be offensive
van der w￭ ou￭ de syndrome
van der w￭ ou￭ de syndrome v￭ d￭ ws is a genetic disorder characterized by the combination of lower lip pits cle￭ ft lip with or without cle￭ ft pal￭ ate and cle￭ ft pal￭ ate alone cp the frequency of oro￭ facial cle￭ f￭ ts ranges from 1 1000 to 1 500 births worldwide and there are more than 400 syndro￭ mes that involve cle￭ ft lip with or without cle￭ ft pal￭ ate v￭ ws is distinct from other cle￭ f￭ ting syndro￭ mes due to the combination of cle￭ ft lip and pal￭ ate cl￭ p and cp within the same family other features frequently associated with v￭ ws include hypo￭ don￭ tia in 10 81 of cases narrow ar￭ ched pal￭ ate con￭ genital heart disease heart mur￭ m￭ ur and cere￭ br￭ al ab￭ norm￭ alities syn￭ d￭ ac￭ ty￭ ly of the hands poly￭ the￭ lia an￭ ky￭ log￭ los￭ sia and adhe￭ sions between the upper and lower gum p￭ ads
an￭ ky￭ log￭ los￭ sia
an￭ ky￭ log￭ los￭ sia also known as tongue tie is a con￭ genital oral anomaly that may decrease mobility of the tongue tip and is caused by an unusually short thick lingual fren￭ ul￭ um a memb￭ rane connecting the under￭ side of the tongue to the floor of the mouth an￭ ky￭ log￭ los￭ sia varies in degree of severity from mild cases characterized by mu￭ co￭ us memb￭ rane bands to complete an￭ ky￭ log￭ los￭ sia whereby the tongue is te￭ thered to the floor of the mouth
es￭ op￭ ha￭ ge￭ al at￭ re￭ sia
es￭ op￭ ha￭ ge￭ al at￭ re￭ sia or o￭ es￭ op￭ ha￭ ge￭ al at￭ re￭ sia is a con￭ genital medical condition birth defect which affects the alim￭ entary tract it causes the es￭ op￭ ha￭ gus to end in a blind ended p￭ ouch rather than connecting normally to the stomach it comprises a variety of con￭ genital an￭ atomic defects that are caused by an abnormal embry￭ ological development of the es￭ op￭ ha￭ gus it is characterized anatom￭ ically by a con￭ genital obstruction of the es￭ op￭ ha￭ gus with interruption of the continuity of the es￭ op￭ ha￭ ge￭ al wall
es￭ op￭ ha￭ ge￭ al web
du￭ o￭ den￭ al at￭ re￭ sia
du￭ o￭ den￭ al at￭ re￭ sia also known as du￭ o￭ den￭ o￭ je￭ jun￭ al at￭ re￭ sia is the con￭ genital absence or complete closure of a portion of the lum￭ en of the du￭ o￭ den￭ um it causes increased levels of am￭ ni￭ otic fluid during pregnancy poly￭ hy￭ dram￭ ni￭ os and intest￭ inal obstruction in new￭ born babies radio￭ graphy shows a dist￭ ended stomach and dist￭ ended du￭ o￭ den￭ um which are separated by the p￭ yl￭ or￭ ic valve a finding described as the double bubble sign treatment includes suc￭ tioning out any fluid that is trapped in the stomach providing fluids intra￭ ven￭ ously and surgical repair of the intest￭ inal closure
imper￭ for￭ ate an￭ us
hir￭ sch￭ sp￭ rung s disease
hir￭ sch￭ sp￭ rung s disease hd is a form of me￭ ga￭ col￭ on that occurs when part or all of the large intest￭ ine or an￭ tec￭ ed￭ ent parts of the gastro￭ intest￭ inal tract have no gang￭ lion cells and therefore cannot function during normal pre￭ natal development cells from the ne￭ ural c￭ rest migrate into the large intest￭ ine col￭ on to form the networks of nerves called the my￭ enter￭ ic plex￭ us au￭ erb￭ ach plex￭ us between the smooth muscle layers of the gastro￭ intest￭ inal tract wall and the sub￭ mu￭ cos￭ al plex￭ us me￭ iss￭ ner plex￭ us within the sub￭ mu￭ co￭ sa of the gastro￭ intest￭ inal tract wall in hir￭ sch￭ sp￭ rung s disease the migration is not complete and part of the col￭ on lacks these nerve bodies that regulate the activity of the col￭ on the affected segment of the col￭ on cannot relax and pass sto￭ ol through the col￭ on creating an
intest￭ inal mal￭ rotation
intest￭ inal mal￭ rotation is a con￭ genital anomaly of rotation of the mid￭ gut embry￭ o￭ logically the gut under￭ goes a complex rotation outside the ab￭ dom￭ en as a result the small bo￭ wel is found predominantly on the right side of the ab￭ dom￭ en the cec￭ um is displaced from its usual position in the right lower quad￭ rant into the ep￭ ig￭ ast￭ ri￭ um right hypo￭ ch￭ on￭ dri￭ um the lig￭ ament of tre￭ itz is displaced infer￭ ior￭ ly and righ￭ tw￭ ard fi￭ bro￭ us bands of lad￭ d course over the vertical portion of the du￭ o￭ den￭ um di￭ i causing intest￭ inal obstruction the small intest￭ ine has an unusually narrow base and therefore the mid￭ gut is prone to vol￭ vul￭ us a tw￭ isting that can obstruct the mes￭ enter￭ ic blood vessels and cause intest￭ inal is￭ chem￭ ia
bi￭ li￭ ary at￭ re￭ sia
bi￭ li￭ ary at￭ re￭ sia also known as extra￭ he￭ p￭ atic duc￭ top￭ enia progressive obliter￭ ative chol￭ an￭ gi￭ opathy or ko￭ tb disease is a childhood disease of the liver in which one or more bile duc￭ ts are abnormally narrow blocked or absent it can be con￭ genital or acquired as a birth defect in new￭ born infants it has an incidence of one in 10 000 – 15 000 live births in the united states and a prevalence of one in 16 700 in the british is￭ les bi￭ li￭ ary at￭ re￭ sia is most common in east asia with a frequency of one in 5 000
cho￭ le￭ do￭ ch￭ al cy￭ sts
cho￭ le￭ do￭ ch￭ al cy￭ sts aka bile duc￭ t cyst are con￭ genital conditions involving c￭ ys￭ tic di￭ lat￭ ation of bile duc￭ ts they are un￭ common in western countries but not as rare in east asian nations like japan and china
al￭ ag￭ ille syndrome
al￭ ag￭ ille syndrome is an auto￭ som￭ al dominant genetic disorder that affects the liver heart kidney and other systems of the body problems associated with the disorder generally become evident in infancy or early childhood the disorder is inherited in an auto￭ som￭ al dominant pattern and the estimated prevalence of al￭ ag￭ ille syndrome is 1 in every 100 000 live births it is named for daniel al￭ ag￭ ille
jo￭ han￭ son – bli￭ zz￭ ard syndrome
jo￭ han￭ son – bli￭ zz￭ ard syndrome j￭ bs is a rare sometimes fatal auto￭ som￭ al rec￭ essive multi￭ system con￭ genital disorder featuring abnormal development of the pan￭ cre￭ as nose and scal￭ p with mental retar￭ dation hearing loss and growth failure it is sometimes described as a form of ec￭ to￭ der￭ mal dys￭ pl￭ asia the disorder is especially noted for causing profound developmental errors and exo￭ cr￭ ine dysfunction of the pan￭ cre￭ as and it is considered to be an inherited pan￭ cre￭ atic disease
ann￭ ular pan￭ cre￭ as
ann￭ ular pan￭ cre￭ as is a rare condition in which the second part of the du￭ o￭ den￭ um is surrounded by a ring of pan￭ cre￭ atic tissue continuous with the head of the pan￭ cre￭ as this portion of the pan￭ cre￭ as can con￭ strict the du￭ o￭ den￭ um and block or impair the flow of food to the rest of the intest￭ ines it is estimated to occur in 1 out of 12 000 to 15 000 new￭ bor￭ ns the ambiguity arises from the fact that not all cases are symptomatic
sh￭ wach￭ man – diamond syndrome
sh￭ wach￭ man – diamond syndrome s￭ ds or sh￭ wach￭ man – bo￭ dian – diamond syndrome is a rare con￭ genital disorder characterized by exo￭ cr￭ ine pan￭ cre￭ atic in￭ sufficiency bone marrow dysfunction sk￭ el￭ etal ab￭ norm￭ alities and short stature after c￭ ys￭ tic fi￭ bro￭ sis cf it is the second most common cause of exo￭ cr￭ ine pan￭ cre￭ atic in￭ sufficiency in children
pan￭ cre￭ as divis￭ um
uter￭ ine mal￭ formation
a uter￭ ine mal￭ formation is a type of female genital mal￭ formation resulting from an abnormal development of the mü￭ ll￭ er￭ ian duc￭ t s during embry￭ o￭ genesis symptoms range from amen￭ or￭ rhe￭ a in￭ fertility recurrent pregnancy loss and pain to normal functioning depending on the nature of the defect
mü￭ ll￭ er￭ ian agen￭ esis
vag￭ inal sep￭ tum
lab￭ ial fusion
cry￭ p￭ tor￭ chi￭ dis￭ m
cry￭ p￭ tor￭ chi￭ dis￭ m is the absence of one or both test￭ es from the scro￭ tum it is the most common birth defect of the male gen￭ itals about 3 of full term and 30 of premature infant boys are born with at least one und￭ es￭ c￭ ended testi￭ s however about 80 of cry￭ p￭ tor￭ ch￭ id test￭ es descend by the first year of life the majority within three months making the true incidence of cry￭ p￭ tor￭ chi￭ dis￭ m around 1 overall cry￭ p￭ tor￭ chi￭ dis￭ m may develop after infancy sometimes as late as young adul￭ thood but that is exceptional a testi￭ s absent from the normal scro￭ tal position may be
cry￭ p￭ tor￭ chi￭ dis￭ m is the absence of one or both test￭ es from the scro￭ tum it is the most common birth defect of the male gen￭ itals about 3 of full term and 30 of premature infant boys are born with at least one und￭ es￭ c￭ ended testi￭ s however about 80 of cry￭ p￭ tor￭ ch￭ id test￭ es descend by the first year of life the majority within three months making the true incidence of cry￭ p￭ tor￭ chi￭ dis￭ m around 1 overall cry￭ p￭ tor￭ chi￭ dis￭ m may develop after infancy sometimes as late as young adul￭ thood but that is exceptional cry￭ p￭ tor￭ chi￭ dis￭ m is distinct from mon￭ orch￭ ism the condition of having only one tes￭ tic￭ le the condition may occur on one or both sides it more commonly affects the right testi￭ s a testi￭ s absent from the normal scro￭ tal position may be 1 anywhere along the path of descent from high in the poster￭ ior retro￭ per￭ it￭ one￭ al ab￭ dom￭ en just below the kidney to the ingu￭ inal ring 2 in the ingu￭ inal canal 3 ec￭ topic having wan￭ dered from the path of descent usually outside the ingu￭ inal canal and sometimes even under the skin of the thi￭ gh the per￭ in￭ eu￭ m the opposite scro￭ tum or the fem￭ oral canal 4 un￭ developed hypo￭ plastic or severely abnormal dys￭ genetic 5 missing also see an￭ orch￭ ia about two thirds of cases without other ab￭ norm￭ alities are unilateral most of the other third involve both test￭ es in 90 of cases an und￭ es￭ c￭ ended testi￭ s can be felt in the ingu￭ inal canal in a small minority of cases missing test￭ es may be found in the ab￭ dom￭ en or appear to be non￭ existent truly hidden und￭ es￭ c￭ ended test￭ es are associated with reduced fertility increased risk of tes￭ tic￭ ular germ cell tumors and psychological problems when the boy is grown und￭ es￭ c￭ ended test￭ es are also more susceptible to tes￭ tic￭ ular tor￭ sion and subsequent inf￭ arc￭ tion and ingu￭ inal her￭ ni￭ as without intervention an und￭ es￭ c￭ ended tes￭ tic￭ le will usually descend during the first year of life but to reduce these risks und￭ es￭ c￭ ended test￭ es can be brought into the scro￭ tum in infancy by a surgical procedure called an or￭ chi￭ op￭ ex￭ y although cry￭ p￭ tor￭ chi￭ dis￭ m nearly always refers to con￭ genital absence or mal￭ descent a testi￭ s observed in the scro￭ tum in early infancy can occasionally reas￭ c￭ end move back up into the ingu￭ inal canal a testi￭ s which can readily move or be moved between the scro￭ tum and canal is referred to as re￭ tr￭ acti￭ le the word is from the greek κρ￭ υπ￭ τ￭ ός kry￭ p￭ tos meaning hidden ὄ￭ ρ￭ χ￭ ις orch￭ is meaning tes￭ tic￭ le cry￭ p￭ tor￭ chi￭ dis￭ m hypo￭ sp￭ adi￭ as tes￭ tic￭ ular cancer and poor semen quality make up the syndrome known as tes￭ tic￭ ular dys￭ genesis syndrome
hypo￭ sp￭ adi￭ as
hypo￭ sp￭ adi￭ as ha￭ ɪ￭ po￭ ʊ￭ ˈ￭ spe￭ ɪ￭ d￭ ɪ￭ ə￭ s is a birth defect of the u￭ re￭ th￭ ra where the ur￭ inary opening is not at the usual location on the head of the penis it is the second most common birth ab￭ normality of the male reproductive system affecting approximately 1 of every 250 in approximately 90 of cases the opening me￭ atus is on or near the head of the penis gl￭ ans referred to as dis￭ tal hypo￭ sp￭ adi￭ as while the remainder have proxim￭ al hypo￭ sp￭ adi￭ as with a me￭ atus near or within the scro￭ tum shiny tissue seen extending from the me￭ atus to the tip of the gl￭ ans which would have made the ur￭ inary channel is referred to as the u￭ re￭ th￭ ral plate
hypo￭ sp￭ adi￭ as ha￭ ɪ￭ po￭ ʊ￭ ˈ￭ spe￭ ɪ￭ d￭ ɪ￭ ə￭ s is a birth defect of the u￭ re￭ th￭ ra where the ur￭ inary opening is not at the usual location on the head of the penis it is the second most common birth ab￭ normality of the male reproductive system affecting approximately 1 of every 250 in approximately 90 of cases the opening me￭ atus is on or near the head of the penis gl￭ ans referred to as dis￭ tal hypo￭ sp￭ adi￭ as while the remainder have proxim￭ al hypo￭ sp￭ adi￭ as with a me￭ atus near or within the scro￭ tum shiny tissue seen extending from the me￭ atus to the tip of the gl￭ ans which would have made the ur￭ inary channel is referred to as the u￭ re￭ th￭ ral plate in most cases the fores￭ kin is also underdeveloped and does not wrap completely around the penis leaving the under￭ side of the gl￭ ans penis uncovered there may also be downward b￭ ending of the penis commonly referred to as chor￭ dee this is found in 10 of dis￭ tal hypo￭ sp￭ adi￭ as and 50 of proxim￭ al hypo￭ sp￭ adi￭ as at the time of surgery the scro￭ tum may be higher than usual to either side of the penis called pen￭ os￭ cro￭ tal transposition adding to the abnormal overall appearance hypo￭ sp￭ adi￭ as is thought to result from failure of the ur￭ inary channel to completely tu￭ bul￭ arize to the end of the penis the cause of hypo￭ sp￭ adi￭ as is not known most often it is the only abnormal finding although in about 10 of cases hypo￭ sp￭ adi￭ as may be part of a syndrome with multiple ab￭ norm￭ alities the most common associated defect is an und￭ es￭ c￭ ended tes￭ tic￭ le which has been reported in approximately 3 of infants with dis￭ tal hypo￭ sp￭ adi￭ as and 10 of those having proxim￭ al hypo￭ sp￭ adi￭ as the combination of hypo￭ sp￭ adi￭ as and an und￭ es￭ c￭ ended tes￭ tic￭ le sometimes indicates a disorder of sexual differentiation and so additional testing may be recommended otherwise no blood tests or x rays are routinely needed in new￭ bor￭ ns with hypo￭ sp￭ adi￭ as
mon￭ orch￭ ism
mon￭ orch￭ ism also mon￭ or￭ chi￭ dis￭ m is the state of having only one tes￭ tic￭ le within the scro￭ tum
an￭ orch￭ ia
an￭ orch￭ ia or an￭ orch￭ ism is an xy disorder of sex development in which individuals have both test￭ es absent at birth within a few weeks of fertili￭ zation the embryo develops ru￭ dim￭ entary gon￭ ads test￭ es which produce hormones responsible for the development of the reproductive system if the test￭ es fail to develop within eight weeks the baby will develop female gen￭ italia see sw￭ yer syndrome if the test￭ es begin to develop but are lost or cease to function between eight and 10 weeks the baby will have ambiguous gen￭ italia when it is born however if the test￭ es are lost after 14 weeks the baby will have partial male gen￭ italia with the notable absence of gon￭ ads
an￭ orch￭ ia or an￭ orch￭ ism is an xy disorder of sex development in which individuals have both test￭ es absent at birth within a few weeks of fertili￭ zation the embryo develops ru￭ dim￭ entary gon￭ ads test￭ es which produce hormones responsible for the development of the reproductive system if the test￭ es fail to develop within eight weeks the baby will develop female gen￭ italia see sw￭ yer syndrome if the test￭ es begin to develop but are lost or cease to function between eight and 10 weeks the baby will have ambiguous gen￭ italia when it is born however if the test￭ es are lost after 14 weeks the baby will have partial male gen￭ italia with the notable absence of gon￭ ads tests include observ￭ able lack of test￭ es low te￭ sto￭ ster￭ one levels typical female levels elevated fol￭ lic￭ le stimulating hormone and lu￭ te￭ ini￭ zing hormone levels xy kar￭ yo￭ type ul￭ tras￭ ound or magnetic resonance imaging showing absent gon￭ ad￭ al tissue low bone density low anti mü￭ ll￭ er￭ ian hormone levels and surgical exploration for evidence of male gon￭ ad￭ al tissue
con￭ genital absence of the vas defer￭ ens
con￭ genital absence of the vas defer￭ ens cav￭ d is a condition in which the v￭ asa defer￭ entia reproductive organs fail to form properly prior to birth it may either be unilateral cu￭ av￭ d or bilateral c￭ bav￭ d
persistent mü￭ ll￭ er￭ ian duc￭ t syndrome
persistent mü￭ ll￭ er￭ ian duc￭ t syndrome p￭ m￭ ds is the presence of mü￭ ll￭ er￭ ian duc￭ t derivatives fall￭ op￭ ian tubes uter￭ us and or the upper part of the vag￭ ina in a genetically male animal in humans p￭ m￭ ds typically is due to an auto￭ som￭ al rec￭ essive con￭ genital disorder and is considered by some to be a form of pseu￭ do￭ her￭ m￭ aph￭ ro￭ di￭ tism due to the presence of mü￭ ll￭ er￭ ian derivatives
xy gon￭ ad￭ al dys￭ genesis
ren￭ al agen￭ esis
ren￭ al agen￭ esis is a medical condition in which one unilateral or both bilateral fe￭ tal kidneys fail to develop it can be associated with ret or up￭ k 3 a
pot￭ ter sequence
pot￭ ter sequence also known as pot￭ ter s syndrome pot￭ ter s sequence or oligo￭ hy￭ dram￭ ni￭ os sequence is the atypical physical appearance of a fe￭ tus or ne￭ on￭ ate due to oligo￭ hy￭ dram￭ ni￭ os experienced in the uter￭ us oligo￭ hy￭ dram￭ ni￭ os is the decrease in am￭ ni￭ otic fluid volume sufficient to cause de￭ formations in mor￭ pho￭ genesis of the fe￭ tus pot￭ ter s sequence is known in the medical field as clu￭ bbed feet pul￭ mon￭ ary hypo￭ pl￭ asia and cran￭ ial anomalies related to the oligo￭ hy￭ dram￭ ni￭ os
pot￭ ter sequence also known as pot￭ ter s syndrome pot￭ ter s sequence or oligo￭ hy￭ dram￭ ni￭ os sequence is the atypical physical appearance of a fe￭ tus or ne￭ on￭ ate due to oligo￭ hy￭ dram￭ ni￭ os experienced in the uter￭ us oligo￭ hy￭ dram￭ ni￭ os is the decrease in am￭ ni￭ otic fluid volume sufficient to cause de￭ formations in mor￭ pho￭ genesis of the fe￭ tus oligo￭ hy￭ dram￭ ni￭ os is the cause of pot￭ ter sequence but there are many things that can lead to oligo￭ hy￭ dram￭ ni￭ os it can be caused by ren￭ al diseases such as bilateral ren￭ al agen￭ esis bra at￭ re￭ sia of the u￭ re￭ ter or u￭ re￭ th￭ ra causing obstruction of the ur￭ inary tract poly￭ c￭ ys￭ tic or mul￭ tic￭ ys￭ tic kidney diseases ren￭ al hypo￭ pl￭ asia am￭ ni￭ otic rupture tox￭ emia or uter￭ op￭ lac￭ ental in￭ sufficiency from maternal hyper￭ tension pot￭ ter s sequence is known in the medical field as clu￭ bbed feet pul￭ mon￭ ary hypo￭ pl￭ asia and cran￭ ial anomalies related to the oligo￭ hy￭ dram￭ ni￭ os the term pot￭ ter sequence was initially intended to only refer to cases caused by bra however it is now commonly used by many clin￭ icians and researchers to refer to any case that presents with oligo￭ hy￭ dram￭ ni￭ os or an￭ hy￭ dram￭ ni￭ os regardless of the source of the loss of am￭ ni￭ otic fluid
poly￭ c￭ ys￭ tic kidney disease
poly￭ c￭ ys￭ tic kidney disease p￭ k￭ d or p￭ ck￭ d also known as poly￭ c￭ ys￭ tic kidney syndrome is a genetic disorder in which abnormal cy￭ sts develop and grow in the kidneys c￭ ys￭ tic disorders can express themselves at any point infancy childhood or adul￭ thood the disease occurs in humans and some other animals p￭ k￭ d is characterized by the presence of multiple cy￭ sts hence poly￭ c￭ ys￭ tic typically in both kidneys however 17 of cases initially present with observ￭ able disease in one kidney with most cases progressing to bilateral disease in adul￭ thood
poly￭ c￭ ys￭ tic kidney disease p￭ k￭ d or p￭ ck￭ d also known as poly￭ c￭ ys￭ tic kidney syndrome is a genetic disorder in which abnormal cy￭ sts develop and grow in the kidneys c￭ ys￭ tic disorders can express themselves at any point infancy childhood or adul￭ thood the disease occurs in humans and some other animals p￭ k￭ d is characterized by the presence of multiple cy￭ sts hence poly￭ c￭ ys￭ tic typically in both kidneys however 17 of cases initially present with observ￭ able disease in one kidney with most cases progressing to bilateral disease in adul￭ thood poly￭ c￭ ys￭ tic kidney disease is one of the most common hereditary diseases in the united states affecting more than 600 000 people it is the cause of nearly 10 of end stage ren￭ al disease and affects men women and all races equally
med￭ ul￭ l￭ ary c￭ ys￭ tic kidney disease
med￭ ul￭ l￭ ary c￭ ys￭ tic kidney disease mc￭ k￭ d is an auto￭ som￭ al dominant kidney disorder characterized by tu￭ bul￭ o￭ inter￭ sti￭ tial sclerosis leading to end stage ren￭ al disease because the presence of cy￭ sts is neither an early nor a typical diagnostic feature of the disease and because at least 4 different gene mutations may give rise to the condition the name auto￭ som￭ al dominant tu￭ bul￭ o￭ inter￭ sti￭ tial kidney disease ad￭ t￭ k￭ d has been proposed to be appended with the underlying genetic variant for a particular individual importantly if cy￭ sts are found in the med￭ ul￭ l￭ ary collecting duc￭ ts they can result in a shrun￭ ken kidney unlike that of poly￭ c￭ ys￭ tic kidney disease there are two known forms of med￭ ul￭ l￭ ary c￭ ys￭ tic kidney disease m￭ uc￭ in 1 kidney disease 1 m￭ k￭ d 1 and m￭ uc￭ in 2 kidney disease u￭ ro￭ mod￭ ulin kidney dise￭ a
med￭ ul￭ l￭ ary spon￭ ge kidney
med￭ ul￭ l￭ ary spon￭ ge kidney also known as cac￭ chi – ric￭ ci disease is a con￭ genital disorder of the kidneys characterized by c￭ ys￭ tic di￭ lat￭ ation of the collecting tu￭ bul￭ es in one or both kidneys individuals with med￭ ul￭ l￭ ary spon￭ ge kidney are at increased risk for kidney stones and ur￭ inary tract infection patients with m￭ sk typically pass twice as many stones per year as do other stone form￭ ers without m￭ sk while described as a benign disorder with a low morbi￭ dity rate as many as 10 of patients with m￭ sk have an increased risk of morbi￭ dity associated with frequent stones and uti￭ s while some patients report increased chronic kidney pain the source of the pain when a u￭ ti or block￭ age is not present is unclear at this time ren￭ al col￭ ic flank and back pain is present in 55 of patients women with
ne￭ ph￭ ro￭ no￭ ph￭ th￭ is￭ is
ne￭ ph￭ ro￭ no￭ ph￭ th￭ is￭ is is a genetic disorder of the kidneys which affects children it is classified as a med￭ ul￭ l￭ ary c￭ ys￭ tic kidney disease the disorder is inherited in an auto￭ som￭ al rec￭ essive fashion and although rare is the most common genetic cause of childhood kidney failure it is a form of ci￭ li￭ opathy its incidence has been estimated to be 0 9 cases per million people in the united states and 1 in 50 000 births in canada
mec￭ kel syndrome
mec￭ kel syndrome also known as mec￭ kel – gru￭ ber syndrome gru￭ ber syndrome dy￭ sen￭ ce￭ ph￭ alia s￭ plan￭ ch￭ no￭ c￭ ys￭ tica is a rare lethal ci￭ li￭ opathic genetic disorder characterized by ren￭ al c￭ ys￭ tic dys￭ pl￭ asia central nervous system mal￭ formations oc￭ ci￭ p￭ ital encephal￭ oce￭ le poly￭ d￭ ac￭ ty￭ ly post ax￭ ial he￭ p￭ atic developmental defects and pul￭ mon￭ ary hypo￭ pl￭ asia due to oligo￭ hy￭ dram￭ ni￭ os mec￭ kel – gru￭ ber syndrome is named for jo￭ han￭ n mec￭ kel and georg gru￭ ber
ec￭ topic u￭ re￭ ter
ec￭ topic u￭ re￭ ter or u￭ re￭ ter￭ al ec￭ top￭ ia is a medical condition where the u￭ re￭ ter rather than terminating at the ur￭ inary blad￭ der termin￭ ates at a different site in males this site is usually the u￭ re￭ th￭ ra in females this is usually the u￭ re￭ th￭ ra or vag￭ ina it can be associated with ren￭ al dys￭ pl￭ asia frequent ur￭ inary tract infections and ur￭ inary in￭ contin￭ ence usually continuous drip in￭ contin￭ ence ec￭ topic u￭ re￭ ters are found in 1 of every 2000 – 4000 patients and can be difficult to diagnose but are most often seen on ct sc￭ ans
hor￭ ses￭ ho￭ e kidney
hor￭ ses￭ ho￭ e kidney also known as ren ar￭ cu￭ atus in latin ren￭ al fusion or super kidney is a con￭ genital disorder affecting about 1 in 600 people more common in men in this disorder the patient s kidneys fuse together to form a hor￭ ses￭ ho￭ e shape during development in the wom￭ b the f￭ used part is the is￭ th￭ mus of the hor￭ ses￭ ho￭ e kidney fusion ab￭ norm￭ alities of the kidney can be categ￭ orized into two groups hor￭ ses￭ ho￭ e kidney and crossed f￭ used ec￭ top￭ ia the hor￭ ses￭ ho￭ e kidney is the most common ren￭ al fusion anomaly
ep￭ is￭ p￭ adi￭ as
an ep￭ is￭ p￭ adi￭ as is a rare type of mal￭ formation of the penis in which the u￭ re￭ th￭ ra ends in an opening on the upper aspect the dor￭ sum of the penis it can also develop in females when the u￭ re￭ th￭ ra develops too far an￭ ter￭ ior￭ ly it occurs in around 1 in 120 000 male and 1 in 500 000 female births
blad￭ der ex￭ stro￭ phy
blad￭ der ex￭ stro￭ phy also known as ec￭ top￭ ia ves￭ ic￭ ae is a con￭ genital anomaly that exists along the spectrum of the ex￭ stro￭ phy ep￭ is￭ p￭ adi￭ as complex and most notably involves pro￭ tru￭ sion of the ur￭ inary blad￭ der through a defect in the ab￭ domin￭ al wall its presentation is variable often including ab￭ norm￭ alities of the bon￭ y pel￭ vis pel￭ vic floor and gen￭ italia the underlying embry￭ o￭ logic mechanism leading to blad￭ der ex￭ stro￭ phy is unknown though it is thought to be in part due to failed reinforcement of the clo￭ ac￭ al memb￭ rane by underlying mes￭ o￭ der￭ m
hip dys￭ pl￭ asia
pes cav￭ us
pes cav￭ us in medical terminology also high inst￭ ep high arch tali￭ pes cav￭ us ca￭ void foot and sup￭ inated foot type is a human foot type in which the sole of the foot is distinctly hollow when bearing weight that is there is a fixed plan￭ tar fl￭ ex￭ ion of the foot a high arch is the opposite of a flat foot and is somewhat less common
dol￭ ic￭ ho￭ cephal￭ y
dol￭ ic￭ ho￭ cephal￭ y derived from the ancient greek δ￭ ολ￭ ι￭ χ￭ ός meaning long is a condition where the head is longer than would be expected relative to its width the skul￭ ls of ne￭ ander￭ th￭ als show a marked dol￭ ic￭ ho￭ cephal￭ y compared to other humans past or present in humans s￭ cap￭ ho￭ cephal￭ y is a form of dol￭ ic￭ ho￭ cephal￭ y it can present be in cases of sens￭ en￭ brenner syndrome c￭ rou￭ z￭ on syndrome so￭ tos syndrome as well as mar￭ fan syndrome
pl￭ ag￭ io￭ cephal￭ y
pl￭ ag￭ io￭ cephal￭ y also known as flat head syndrome is a condition characterized by an asymmetrical distortion fl￭ att￭ ening of one side of the skull it is characterized by a flat spot on the back or one side of the head caused by remaining in a sup￭ ine position for too long
pl￭ ag￭ io￭ cephal￭ y also known as flat head syndrome is a condition characterized by an asymmetrical distortion fl￭ att￭ ening of one side of the skull it is characterized by a flat spot on the back or one side of the head caused by remaining in a sup￭ ine position for too long pl￭ ag￭ io￭ cephal￭ y is the word that is used to describe a diag￭ onal asymmetry across the head shape this word particularly describes a fl￭ att￭ ening which is to one side at the back of the head and there is often some facial asymmetry pl￭ ag￭ io￭ cephal￭ y divides into two groups sy￭ no￭ sto￭ tic pl￭ ag￭ io￭ cephal￭ y with one or more f￭ used cran￭ ial su￭ tures and non￭ sy￭ no￭ sto￭ tic de￭ form￭ ational pl￭ ag￭ io￭ cephal￭ y surgical treatment of these groups includes the deference method however the treatment of de￭ form￭ ational pl￭ ag￭ io￭ cephal￭ y is controversial br￭ ach￭ y￭ cephal￭ y describes a very wide head shape with a fl￭ att￭ ening across the whole back of the head
pec￭ tus exc￭ av￭ at￭ um
pec￭ tus exc￭ av￭ at￭ um is a con￭ genital de￭ form￭ ity of the an￭ terior thor￭ ac￭ ic wall in which the ster￭ num and ri￭ b cage grow abnormally this produces a ca￭ ved in or sun￭ ken appearance of the chest it can either be present at birth or not develop until pu￭ ber￭ ty pec￭ tus exc￭ av￭ at￭ um is sometimes considered to be cosmetic but depending on the severity it can impair cardiac and respiratory function and cause pain in the chest and back people with the condition may experience negative psycho￭ social effects and avoid activities that expose the chest
pec￭ tus car￭ in￭ at￭ um
pec￭ tus car￭ in￭ at￭ um l car￭ ī￭ n￭ ā￭ tus equi￭ v to car￭ ī￭ n a ke￭ el also called pigeon chest is a de￭ form￭ ity of the chest characterized by a pro￭ tru￭ sion of the ster￭ num and ribs it is distinct from the related de￭ form￭ ity pec￭ tus exc￭ av￭ at￭ um
camp￭ to￭ d￭ ac￭ ty￭ ly
br￭ ach￭ y￭ d￭ ac￭ ty￭ ly
br￭ ach￭ y￭ d￭ ac￭ ty￭ ly greek βρ￭ α￭ χ￭ ύ￭ ς short plus δ￭ ά￭ κ￭ τ￭ υ￭ λο￭ ς finger is a medical term which literally means short￭ ness of the fingers and toes digits the short￭ ness is relative to the length of other long bones and other parts of the body br￭ ach￭ y￭ d￭ ac￭ ty￭ ly is an inherited usually dominant trait it most often occurs as an isolated dys￭ me￭ lia but can also occur with other anomalies as part of many con￭ genital syndro￭ mes
br￭ ach￭ y￭ d￭ ac￭ ty￭ ly greek βρ￭ α￭ χ￭ ύ￭ ς short plus δ￭ ά￭ κ￭ τ￭ υ￭ λο￭ ς finger is a medical term which literally means short￭ ness of the fingers and toes digits the short￭ ness is relative to the length of other long bones and other parts of the body br￭ ach￭ y￭ d￭ ac￭ ty￭ ly is an inherited usually dominant trait it most often occurs as an isolated dys￭ me￭ lia but can also occur with other anomalies as part of many con￭ genital syndro￭ mes no￭ mo￭ grams for normal values of finger length as a ratio to other body measurements have been published in clinical genetics the most commonly used index of digit length is the dimen￭ sion￭ less ratio of the length of the 3 rd middle finger to the hand length both are expressed in the same units centi￭ meters for example and are measured in an open hand from the finger￭ tip to the principal cre￭ ases where the finger joins the palm and where the palm joins the wrist a no￭ mo￭ gram can be found in the appendix of jones ed smith s recogniz￭ able patterns of human mal￭ formation 5 th edition philadelphia saunders 1997
gen￭ u var￭ um
boom￭ er￭ ang dys￭ pl￭ asia
boom￭ er￭ ang dys￭ pl￭ asia is a lethal form of o￭ ste￭ och￭ on￭ dro￭ dys￭ pl￭ asia known for a characteristic con￭ genital feature in which bones of the arms and legs are mal￭ formed into the shape of a boom￭ er￭ ang death usually occurs in early infancy due to complications arising from overwhelming systemic bone mal￭ formations o￭ ste￭ och￭ on￭ dro￭ dys￭ pl￭ asi￭ as are sk￭ el￭ etal disorders that cause mal￭ formations of both bone and car￭ til￭ age
poly￭ d￭ ac￭ ty￭ ly
syn￭ d￭ ac￭ ty￭ ly
syn￭ d￭ ac￭ ty￭ ly from greek συ￭ ν meaning together and δ￭ ακ￭ τ￭ υ￭ λο￭ ς meaning finger is a condition where in two or more digits are f￭ used together it occurs normally in some mammals such as the si￭ am￭ ang and di￭ proto￭ don￭ tia but is an unusual condition in humans
ec￭ tro￭ d￭ ac￭ ty￭ ly
ec￭ tro￭ d￭ ac￭ ty￭ ly split hand cle￭ ft hand derived from the greek ek￭ tro￭ ma abortion and dak￭ ty￭ los finger involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand split foot mal￭ formation sh￭ f￭ m the hands and feet of people with ec￭ tro￭ d￭ ac￭ ty￭ ly are often described as cla￭ w like and may include only the thumb and one finger usually either the little finger ring finger or a syn￭ d￭ ac￭ ty￭ ly of the two with similar ab￭ norm￭ alities of the feet
ec￭ tro￭ d￭ ac￭ ty￭ ly split hand cle￭ ft hand derived from the greek ek￭ tro￭ ma abortion and dak￭ ty￭ los finger involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand split foot mal￭ formation sh￭ f￭ m the hands and feet of people with ec￭ tro￭ d￭ ac￭ ty￭ ly are often described as cla￭ w like and may include only the thumb and one finger usually either the little finger ring finger or a syn￭ d￭ ac￭ ty￭ ly of the two with similar ab￭ norm￭ alities of the feet it is a rare form of a con￭ genital disorder in which the development of the hand is disturbed it is a type i failure of formation – longit￭ ud￭ inal arrest the central ray of the hand is affected and usually appears without proxim￭ al deficiencies of nerves vessels tend￭ ons muscles and bones in contrast to the rad￭ ial and ul￭ nar deficiencies the cle￭ ft hand appears as a v shaped cle￭ ft situated in the centre of the hand the digits at the borders of the cle￭ ft might be syn￭ d￭ acti￭ ly￭ zed and one or more digits can be absent in most types the thumb ring finger and little finger are the less affected parts of the hand the incidence of cle￭ ft hand varies from 1 in 90 000 to 1 in 10 000 births depending on the used classification cle￭ ft hand can appear unilateral or bilateral and can appear isolated or associated with a syndrome split hand foot mal￭ formation sh￭ f￭ m is characterized by underdeveloped or absent central digital rays cle￭ f￭ ts of hands and feet and variable syn￭ d￭ ac￭ ty￭ ly of the remaining digits sh￭ f￭ m is a heterogeneous condition caused by ab￭ norm￭ alities at one of multiple loc￭ i including sh￭ f￭ m 1 sh￭ f￭ m 1 at 7 q 21 q 22 sh￭ f￭ m 2 x￭ q 26 sh￭ f￭ m 3 f￭ b￭ x￭ w 4 d￭ ac￭ ty￭ lin at 10 q 24 sh￭ f￭ m 4 tp 63 at 3 q 27 and sh￭ f￭ m 5 dl￭ x 1 and dl￭ x 2 at 2 q 31 sh￭ f￭ m 3 is unique in that it is caused by sub￭ micro￭ scopic tandem chro￭ mo￭ some duplic￭ ations of f￭ b￭ x￭ w 4 d￭ ac￭ ty￭ lin sh￭ f￭ m 3 is considered isolated ec￭ tro￭ d￭ ac￭ ty￭ ly and does not show a mutation of the tp 63 gene
ame￭ lia birth defect
ame￭ lia from greek ἀ lack of plus μέ￭ λο￭ ς plural μέ￭ λ￭ ε￭ α or μέ￭ λ￭ η limb is the birth defect of lacking one or more limbs it can also result in a shrun￭ ken or de￭ formed limb for example a child might be born without an el￭ bow or fore￭ arm the term may be modified to indicate the number of legs or arms missing at birth such as tetra ame￭ lia for the absence of all four limbs a related term is mer￭ om￭ eli￭ a which is the partial absence of a limb or limbs
pho￭ com￭ eli￭ a
pho￭ com￭ eli￭ a from ancient greek φ￭ ώ￭ κ￭ η ph￭ ō￭ k￭ ē seal animal o inter￭ fix μέ￭ λο￭ ς mel￭ os limb english suff￭ ix ia is an extremely rare con￭ genital disorder involving mal￭ formation of the limbs dys￭ me￭ lia é￭ ti￭ enne ge￭ off￭ roy saint hil￭ aire coined the term in 18￭ 36
pho￭ com￭ eli￭ a from ancient greek φ￭ ώ￭ κ￭ η ph￭ ō￭ k￭ ē seal animal o inter￭ fix μέ￭ λο￭ ς mel￭ os limb english suff￭ ix ia is an extremely rare con￭ genital disorder involving mal￭ formation of the limbs dys￭ me￭ lia é￭ ti￭ enne ge￭ off￭ roy saint hil￭ aire coined the term in 18￭ 36 although many factors can cause pho￭ com￭ eli￭ a the prominent roots come from the use of the drug th￭ ali￭ dom￭ ide and from genetic inheritance occurrence in an individual results in various ab￭ norm￭ alities to the face limbs ears nose vessels and many other under￭ developments although operations may improve some ab￭ norm￭ alities many are not sur￭ g￭ ically treat￭ able due to the lack of nerves and other related structures
rober￭ ts syndrome
rober￭ ts syndrome or sometimes called pseu￭ do￭ th￭ ali￭ dom￭ ide syndrome is an extremely rare genetic disorder that is characterized by mild to severe pre￭ natal retar￭ dation or disruption of cell division leading to mal￭ formation of the bones in the skull face arms and legs
ec￭ tro￭ me￭ lia
fi￭ bul￭ ar hem￭ im￭ eli￭ a
mad￭ el￭ ung s de￭ form￭ ity
mad￭ el￭ ung s de￭ form￭ ity is usually characterized by mal￭ formed w￭ rists and wrist bones accompanied by short stature and is often associated with lé￭ ri we￭ ill dy￭ sch￭ on￭ dro￭ ste￭ osis it has only been recognized within the past hundred years
spre￭ n￭ gel s de￭ form￭ ity
spre￭ n￭ gel s de￭ form￭ ity also known as high s￭ cap￭ ula or con￭ genital high s￭ cap￭ ula is a rare con￭ genital sk￭ el￭ etal ab￭ normality where a person has one shoulder blade that sits higher on the back than the other the de￭ form￭ ity is due to a failure in early fe￭ tal development where the shoulder fails to descend properly from the neck to its final position the de￭ form￭ ity is commonly associated with other conditions most notably k￭ lip￭ pel fe￭ il syndrome con￭ genital sco￭ li￭ osis including cer￭ vic￭ al sco￭ li￭ osis f￭ used ribs the presence of an om￭ over￭ te￭ br￭ al bone and sp￭ ina bi￭ fi￭ da the left shoulder is the most commonly affected shoulder but the condition can be bilateral meaning that both shoulders are affected about 75 of all observed cases are girls treatment includes surgery in early childhood and physical ther
spre￭ n￭ gel s de￭ form￭ ity also known as high s￭ cap￭ ula or con￭ genital high s￭ cap￭ ula is a rare con￭ genital sk￭ el￭ etal ab￭ normality where a person has one shoulder blade that sits higher on the back than the other the de￭ form￭ ity is due to a failure in early fe￭ tal development where the shoulder fails to descend properly from the neck to its final position the de￭ form￭ ity is commonly associated with other conditions most notably k￭ lip￭ pel fe￭ il syndrome con￭ genital sco￭ li￭ osis including cer￭ vic￭ al sco￭ li￭ osis f￭ used ribs the presence of an om￭ over￭ te￭ br￭ al bone and sp￭ ina bi￭ fi￭ da the left shoulder is the most commonly affected shoulder but the condition can be bilateral meaning that both shoulders are affected about 75 of all observed cases are girls treatment includes surgery in early childhood and physical therapy surgical treatment in adul￭ thood is complicated by the risk of nerve damage when removing the om￭ over￭ te￭ br￭ al bone and when stretching the muscle tissue during relocation of the shoulder
cle￭ ido￭ cran￭ ial dy￭ so￭ sto￭ sis
cle￭ ido￭ cran￭ ial dy￭ so￭ sto￭ sis also called cle￭ ido￭ cran￭ ial dys￭ pl￭ asia is con￭ genital disorder that mostly affects the development of bones and teeth there is typically either poorly developed or no col￭ lar￭ bones which often allows the shoulders to be brought close together the front of the skull often does not close under later and those affected are short other symptoms may include a prominent fore￭ head wide set eyes abnormal teeth and a flat nose symptoms can vary between people however intelligence is typically normal
clin￭ od￭ ac￭ ty￭ ly
ar￭ thro￭ gry￭ pos￭ is
ar￭ thro￭ gry￭ pos￭ is multi￭ pl￭ ex con￭ gen￭ ita am￭ c or simply ar￭ thro￭ gry￭ pos￭ is describes con￭ genital joint contr￭ actu￭ res in two or more areas of the body it derives its name from greek literally meaning cur￭ ving of joints arth￭ ron joint gr￭ ȳ￭ p￭ ō￭ sis late latin form of late greek gr￭ ū￭ p￭ ō￭ sis hoo￭ king children born with one or more joint contr￭ actu￭ res have abnormal fi￭ bro￭ sis of the muscle tissue causing muscle shortening and therefore are unable to perform passive extension and fl￭ ex￭ ion in the affected joint or joints am￭ c has been divided into three groups amy￭ op￭ la￭ sia dis￭ tal ar￭ thro￭ gry￭ pos￭ is and syndro￭ mic amy￭ op￭ la￭ sia is characterized by severe joint contr￭ actu￭ res and muscle weakness dis￭ tal ar￭ thro￭ gry￭ pos￭ is mainly involves the hands and feet types of ar￭ thro￭ gry￭ pos￭ is with a primary neuro￭ logical or muscle
ar￭ thro￭ gry￭ pos￭ is multi￭ pl￭ ex con￭ gen￭ ita am￭ c or simply ar￭ thro￭ gry￭ pos￭ is describes con￭ genital joint contr￭ actu￭ res in two or more areas of the body it derives its name from greek literally meaning cur￭ ving of joints arth￭ ron joint gr￭ ȳ￭ p￭ ō￭ sis late latin form of late greek gr￭ ū￭ p￭ ō￭ sis hoo￭ king children born with one or more joint contr￭ actu￭ res have abnormal fi￭ bro￭ sis of the muscle tissue causing muscle shortening and therefore are unable to perform passive extension and fl￭ ex￭ ion in the affected joint or joints am￭ c has been divided into three groups amy￭ op￭ la￭ sia dis￭ tal ar￭ thro￭ gry￭ pos￭ is and syndro￭ mic amy￭ op￭ la￭ sia is characterized by severe joint contr￭ actu￭ res and muscle weakness dis￭ tal ar￭ thro￭ gry￭ pos￭ is mainly involves the hands and feet types of ar￭ thro￭ gry￭ pos￭ is with a primary neuro￭ logical or muscle disease belong to the syndro￭ mic group
fem￭ ur fi￭ bul￭ a ul￭ na syndrome
cran￭ io￭ sy￭ no￭ sto￭ sis
cran￭ io￭ sy￭ no￭ sto￭ sis from cran￭ io cran￭ ium syn together o￭ sto￭ sis relating to bone is a condition in which one or more of the fi￭ bro￭ us su￭ tures in an infant skull prematurely fuses by turning into bone os￭ sification thereby changing the growth pattern of the skull because the skull cannot expand per￭ pend￭ icular to the f￭ used su￭ ture it compens￭ ates by growing more in the direction parallel to the closed su￭ tures sometimes the resulting growth pattern provides the necessary space for the growing brain but results in an abnormal head shape and abnormal facial features in cases in which the compensation does not effectively provide enough space for the growing brain cran￭ io￭ sy￭ no￭ sto￭ sis results in increased in￭ trac￭ ran￭ ial pressure leading possibly to visual impairment sleeping impairment eating
cran￭ io￭ sy￭ no￭ sto￭ sis from cran￭ io cran￭ ium syn together o￭ sto￭ sis relating to bone is a condition in which one or more of the fi￭ bro￭ us su￭ tures in an infant skull prematurely fuses by turning into bone os￭ sification thereby changing the growth pattern of the skull because the skull cannot expand per￭ pend￭ icular to the f￭ used su￭ ture it compens￭ ates by growing more in the direction parallel to the closed su￭ tures sometimes the resulting growth pattern provides the necessary space for the growing brain but results in an abnormal head shape and abnormal facial features in cases in which the compensation does not effectively provide enough space for the growing brain cran￭ io￭ sy￭ no￭ sto￭ sis results in increased in￭ trac￭ ran￭ ial pressure leading possibly to visual impairment sleeping impairment eating difficulties or an impairment of mental development combined with a significant reduction in i￭ q cran￭ io￭ sy￭ no￭ sto￭ sis occurs in one in 2000 births cran￭ io￭ sy￭ no￭ sto￭ sis is part of a syndrome in 15 to 40 of the patients but it usually occurs as an isolated condition
tri￭ gon￭ o￭ cephal￭ y
mu￭ en￭ ke syndrome
mu￭ en￭ ke syndrome also known as f￭ g￭ fr 3 related cran￭ io￭ sy￭ no￭ sto￭ sis is a human specific condition characterized by the premature closure of certain bones of the skull during development which affects the shape of the head and face first described by maxim￭ ilian mu￭ en￭ ke the syndrome occurs in about 1 in 30 000 new￭ bor￭ ns this condition accounts for an estimated 8 percent of all cases of cran￭ io￭ sy￭ no￭ sto￭ sis
c￭ rou￭ z￭ on syndrome
c￭ rou￭ z￭ on syndrome is an auto￭ som￭ al dominant genetic disorder known as a bran￭ ch￭ ial arch syndrome specifically this syndrome affects the first bran￭ ch￭ ial or phar￭ yn￭ ge￭ al arch which is the precursor of the max￭ illa and man￭ di￭ ble since the bran￭ ch￭ ial ar￭ ches are important developmental features in a growing embryo disturbances in their development create lasting and widespread effects breaking down the name cran￭ io￭ facial refers to the skull and face and dy￭ so￭ sto￭ sis refers to mal￭ formation of bone
hyper￭ tel￭ or￭ ism
macro￭ cephal￭ y
macro￭ cephal￭ y is a condition in which the head is abnormally large this includes the scal￭ p the cran￭ ial bone and the contents of the cran￭ ium
tre￭ acher collins syndrome
tre￭ acher collins syndrome tcs is an auto￭ som￭ al dominant con￭ genital disorder characterized by cran￭ io￭ facial de￭ form￭ ities involving ears eyes and chee￭ k￭ bones and goes along with normal intelligence it is caused by a mutation in the t￭ cof 1 gene most commonly or of pol￭ r 1 c or pol￭ r 1 d the typical physical features include downward s￭ lan￭ ting eyes micro￭ gn￭ ath￭ ia a small lower jaw conduc￭ tive hearing loss underdeveloped zy￭ gom￭ a dro￭ oping part of the lateral lower eye￭ li￭ ds and mal￭ formed or absent ears
tre￭ acher collins syndrome tcs is an auto￭ som￭ al dominant con￭ genital disorder characterized by cran￭ io￭ facial de￭ form￭ ities involving ears eyes and chee￭ k￭ bones and goes along with normal intelligence it is caused by a mutation in the t￭ cof 1 gene most commonly or of pol￭ r 1 c or pol￭ r 1 d the typical physical features include downward s￭ lan￭ ting eyes micro￭ gn￭ ath￭ ia a small lower jaw conduc￭ tive hearing loss underdeveloped zy￭ gom￭ a dro￭ oping part of the lateral lower eye￭ li￭ ds and mal￭ formed or absent ears tcs occurs in about one in 50 000 births in europe the syndrome is named after edward tre￭ acher collins 18￭ 62 – 19￭ 32 the english surgeon and oph￭ thal￭ mo￭ logist who described its essential traits in 1900
fron￭ ton￭ as￭ al dys￭ pl￭ asia
fron￭ ton￭ as￭ al dys￭ pl￭ asia f￭ nd also known as median cle￭ ft face syndrome fron￭ ton￭ as￭ al dy￭ so￭ sto￭ sis fron￭ ton￭ as￭ al mal￭ formation or tes￭ si￭ er cle￭ ft number 0 14 is a con￭ genital mal￭ formation of the mid￭ face for the diagnosis of f￭ nd a patient should present at least two of the following characteristics hyper￭ tel￭ or￭ ism an increased distance between the eyes a wide nas￭ al root vertical mid￭ line cle￭ ft of the nose and or upper lip cle￭ ft of the wings of the nose mal￭ formed nas￭ al tip encephal￭ oce￭ le an opening of the skull with pro￭ tru￭ sion of the brain or v shaped hair pattern on the fore￭ head the cause of f￭ nd remains unknown f￭ nd seems to be spor￭ adic random and multiple environmental factors are suggested as possible causes for the syndrome however in some families multiple cases of f￭ nd were reported
spon￭ dy￭ lo￭ cost￭ al dy￭ so￭ sto￭ sis
spon￭ dy￭ lo￭ cost￭ al dy￭ so￭ sto￭ sis is a rare her￭ itable ax￭ ial skelet￭ on growth disorder it is characterized by widespread and sometimes severe mal￭ formations of the vertebr￭ al column and ribs shortened thor￭ ax and moderate to severe sco￭ li￭ osis and ky￭ pho￭ sis individuals with j￭ arch￭ o le￭ vin typically appear to have a short trunk and neck with arms appearing relatively long in comparison and a slightly pro￭ tuber￭ ant ab￭ dom￭ en severely affected individuals may have life threatening pul￭ mon￭ ary complications due to de￭ form￭ ities of the thor￭ ax the syndrome was first described by s￭ aul j￭ arch￭ o and paul m le￭ vin at joh￭ ns hop￭ kins university in 1938
k￭ lip￭ pel – fe￭ il syndrome
k￭ lip￭ pel – fe￭ il syndrome is a rare disease initially reported in 18￭ 84 by maurice k￭ lip￭ pel and andré fe￭ il from france characterized by the con￭ genital fusion of any two of the seven cer￭ vic￭ al verte￭ bra￭ e the syndrome occurs in a heterogeneous group of patients unified only by the presence of a con￭ genital defect in the formation or segm￭ entation of the cer￭ vic￭ al sp￭ ine k￭ lip￭ pel fe￭ il results in limited movement of the neck k￭ lip￭ pel – fe￭ il syndrome is sometimes identified by short￭ ness of the neck but not all people with this disorder have a visibly shortened neck some people with the syndrome have a very low hair￭ line in 19￭ 19 andré fe￭ il in his ph￭ d thesis suggested another classification of the syndrome encompassing not only de￭ formation of the cer￭ vic￭ al sp￭ ine but also de￭ formation of the lum￭ bar and thora
k￭ lip￭ pel – fe￭ il syndrome is a rare disease initially reported in 18￭ 84 by maurice k￭ lip￭ pel and andré fe￭ il from france characterized by the con￭ genital fusion of any two of the seven cer￭ vic￭ al verte￭ bra￭ e the syndrome occurs in a heterogeneous group of patients unified only by the presence of a con￭ genital defect in the formation or segm￭ entation of the cer￭ vic￭ al sp￭ ine k￭ lip￭ pel fe￭ il results in limited movement of the neck k￭ lip￭ pel – fe￭ il syndrome is sometimes identified by short￭ ness of the neck but not all people with this disorder have a visibly shortened neck some people with the syndrome have a very low hair￭ line in 19￭ 19 andré fe￭ il in his ph￭ d thesis suggested another classification of the syndrome encompassing not only de￭ formation of the cer￭ vic￭ al sp￭ ine but also de￭ formation of the lum￭ bar and thor￭ ac￭ ic sp￭ ine
cer￭ vic￭ al ri￭ b
a cer￭ vic￭ al ri￭ b in humans is an extra ri￭ b which arises from the seventh cer￭ vic￭ al verte￭ bra sometimes known as neck ribs their presence is a con￭ genital ab￭ normality located above the normal first ri￭ b a cer￭ vic￭ al ri￭ b is estimated to occur in 0 6 1 in 150 people to 0 8 of the population people may have a cer￭ vic￭ al ri￭ b on the right left or both sides on imaging cer￭ vic￭ al ribs can be distinguished because their trans￭ verse processes are directed infer￭ ol￭ ater￭ ally whereas those of the adjacent thor￭ ac￭ ic sp￭ ine are directed an￭ ter￭ ol￭ ater￭ ally
a cer￭ vic￭ al ri￭ b in humans is an extra ri￭ b which arises from the seventh cer￭ vic￭ al verte￭ bra sometimes known as neck ribs their presence is a con￭ genital ab￭ normality located above the normal first ri￭ b a cer￭ vic￭ al ri￭ b is estimated to occur in 0 6 1 in 150 people to 0 8 of the population people may have a cer￭ vic￭ al ri￭ b on the right left or both sides most cases of cer￭ vic￭ al ribs are not clin￭ ically relevant and do not have symptoms cer￭ vic￭ al ribs are generally discovered incidentally however they vary widely in size and shape and in rare cases they may cause problems such as contributing to thor￭ ac￭ ic outlet syndrome because of pressure on the nerves that may be caused by the presence of the ri￭ b a cer￭ vic￭ al ri￭ b represents a persistent os￭ sification of the c 7 lateral cost￭ al element during early development this os￭ si￭ fied cost￭ al element typically becomes re absorbed failure of this process results in a vari￭ ably el￭ ong￭ ated trans￭ verse process or complete ri￭ b that can be an￭ ter￭ ior￭ ly f￭ used with the t 1 first ri￭ b below on imaging cer￭ vic￭ al ribs can be distinguished because their trans￭ verse processes are directed infer￭ ol￭ ater￭ ally whereas those of the adjacent thor￭ ac￭ ic sp￭ ine are directed an￭ ter￭ ol￭ ater￭ ally
bi￭ fid ri￭ b
a bi￭ fid ri￭ b bi￭ fur￭ c￭ ated ri￭ b or ster￭ num bi￭ fi￭ dum is a con￭ genital ab￭ normality of the ri￭ b cage and associated muscles and nerves which occurs in about 1 2 of humans bi￭ fid ribs occur in up to 8 4 of sam￭ o￭ ans the ster￭ nal end of the ri￭ b is cle￭ a￭ ved into two it is usually unilateral
a bi￭ fid ri￭ b bi￭ fur￭ c￭ ated ri￭ b or ster￭ num bi￭ fi￭ dum is a con￭ genital ab￭ normality of the ri￭ b cage and associated muscles and nerves which occurs in about 1 2 of humans bi￭ fid ribs occur in up to 8 4 of sam￭ o￭ ans the ster￭ nal end of the ri￭ b is cle￭ a￭ ved into two it is usually unilateral bi￭ fid ribs are usually as￭ ymp￭ tomatic and are often discovered incidentally by chest x ray effects of this neuro￭ sk￭ el￭ etal anomaly can include respiratory difficulties neuro￭ logical difficulties limitations and limited energy from the stress of needing to compensate for the neuro￭ physiological difficulties another association is with od￭ on￭ to￭ genic ker￭ at￭ oc￭ y￭ sts ok￭ c aka ker￭ at￭ oc￭ ys￭ tic od￭ on￭ to￭ genic tumor who terminology of the jaw which may behave aggressively and have a high propensity to recur when treated with simple en￭ uc￭ le￭ ation and cu￭ re￭ tt￭ age when seen together the patient is likely to have ne￭ void bas￭ al cell carcin￭ oma syndrome aka gor￭ lin gol￭ tz syndrome and should be evaluated with this in mind
o￭ ste￭ och￭ on￭ dro￭ dys￭ pl￭ asia
o￭ ste￭ och￭ on￭ dro￭ dys￭ pl￭ asia or sk￭ el￭ etal dys￭ pl￭ asia is a general term for a disorder of the development dys￭ pl￭ asia of bone o￭ ste￭ o and car￭ til￭ age ch￭ on￭ dro o￭ ste￭ och￭ on￭ dro￭ dys￭ pl￭ asi￭ as are rare diseases about 1 in 5 000 babies are born with some type of sk￭ el￭ etal dys￭ pl￭ asia
ach￭ on￭ dro￭ genesis type 1 b
ach￭ on￭ dro￭ genesis type 1 b is a severe auto￭ som￭ al rec￭ essive sk￭ el￭ etal disorder invari￭ able fatal in the per￭ in￭ atal period it is characterized by extremely short limbs a narrow chest and a prominent rounded ab￭ dom￭ en the fingers and toes are short and the feet may be rot￭ ated inward affected infants frequently have a soft out pou￭ ching around the belly button an um￭ bil￭ ical her￭ nia or near the gro￭ in an ingu￭ inal her￭ nia
ach￭ on￭ dro￭ genesis
ach￭ on￭ dro￭ genesis is a number of disorders that are the most severe form of con￭ genital ch￭ on￭ dro￭ dys￭ pl￭ asia mal￭ formation of bones and car￭ til￭ age these conditions are characterized by a small body short limbs and other sk￭ el￭ etal ab￭ norm￭ alities as a result of their serious health problems infants with ach￭ on￭ dro￭ genesis are usually born prematurely are still￭ born or die shortly after birth from respiratory failure some infants however have lived for a while with intensive medical support ach￭ on￭ dro￭ genesis type 1 b is caused by a similar mutation in sl￭ c 26 a 2 which en￭ codes a sul￭ fate transporter
than￭ at￭ op￭ hor￭ ic dys￭ pl￭ asia
short ri￭ b – poly￭ d￭ ac￭ ty￭ ly syndrome
short ri￭ b – poly￭ d￭ ac￭ ty￭ ly syndrome is a family of four closely related dys￭ pl￭ asi￭ as i sal￭ dino no￭ on￭ an type ii maj￭ e￭ wski type iii ver￭ ma n￭ au￭ mo￭ ff type associated with dy￭ nc 2 h 1 iv be￭ em￭ er l￭ anger type
con￭ rad￭ i – hü￭ ner￭ mann syndrome
ch￭ on￭ dro￭ dys￭ pl￭ asia pun￭ ct￭ ata
r￭ hi￭ zom￭ el￭ ic ch￭ on￭ dro￭ dys￭ pl￭ asia pun￭ ct￭ ata
r￭ hi￭ zom￭ el￭ ic ch￭ on￭ dro￭ dys￭ pl￭ asia pun￭ ct￭ ata is a rare developmental brain disorder characterized by systemic shortening of the proxim￭ al bones i e r￭ hi￭ zom￭ eli￭ a seizures recurrent respiratory tract infections and con￭ genital cat￭ ar￭ acts the affected individuals have low levels of plas￭ m￭ alo￭ gens
ach￭ on￭ dro￭ pl￭ asia
ach￭ on￭ dro￭ pl￭ asia is a common cause of dwar￭ f￭ ism it occurs as a spor￭ adic mutation in approximately 80 of cases associated with advanced pater￭ nal age or it may be inherited as an auto￭ som￭ al dominant genetic disorder
hypo￭ ch￭ on￭ dro￭ pl￭ asia
hypo￭ ch￭ on￭ dro￭ pl￭ asia is a developmental disorder caused by an auto￭ som￭ al dominant genetic defect in the fi￭ bro￭ blast growth factor recep￭ tor 3 gene f￭ g￭ fr 3 that results in a disproportionately short stature micro￭ me￭ lia and a head that appears large when compared with the underdeveloped portions of the body it is classified as short lim￭ bed dwar￭ f￭ ism
di￭ astro￭ ph￭ ic dys￭ pl￭ asia
di￭ astro￭ ph￭ ic dys￭ pl￭ asia d￭ td is an auto￭ som￭ al rec￭ essive dys￭ pl￭ asia which affects car￭ til￭ age and bone development di￭ astro￭ ph￭ ism is a general word referring to a tw￭ isting di￭ astro￭ ph￭ ic dys￭ pl￭ asia is due to mutations in the sl￭ c 26 a 2 gene affected individuals have short stature with very short arms and legs and joint problems that restrict mobility
ellis – van cre￭ veld syndrome
ellis – van cre￭ veld syndrome also called ch￭ on￭ dro￭ ec￭ to￭ der￭ mal dys￭ pl￭ asia or mes￭ o￭ ec￭ to￭ der￭ mal dys￭ pl￭ asia but see nomenclature section below is a rare genetic disorder of the sk￭ el￭ etal dys￭ pl￭ asia type
spon￭ dy￭ lo￭ ep￭ ip￭ hy￭ seal dys￭ pl￭ asia con￭ gen￭ ita
spon￭ dy￭ lo￭ ep￭ ip￭ hy￭ seal dys￭ pl￭ asia con￭ gen￭ ita abbreviated to sed more often than s￭ dc is a rare disorder of bone growth that results in dwar￭ f￭ ism characteristic sk￭ el￭ etal ab￭ norm￭ alities and occasionally problems with vision and hearing the name of the condition indicates that it affects the bones of the sp￭ ine spon￭ dyl￭ o and the ends of bones ep￭ ip￭ hy￭ ses and that it is present from birth con￭ genital the signs and symptoms of spon￭ dy￭ lo￭ ep￭ ip￭ hy￭ seal dys￭ pl￭ asia con￭ gen￭ ita are similar to but mil￭ der than the related sk￭ el￭ etal disorders ach￭ on￭ dro￭ genesis type 2 and hypo￭ ch￭ on￭ dro￭ genesis spon￭ dy￭ lo￭ ep￭ ip￭ hy￭ seal dys￭ pl￭ asia con￭ gen￭ ita is a subtype of coll￭ agen￭ opathy types ii and xi
lé￭ ri – we￭ ill dy￭ sch￭ on￭ dro￭ ste￭ osis
o￭ ste￭ o￭ genesis im￭ perfec￭ ta
o￭ ste￭ o￭ genesis im￭ perfec￭ ta oi is a group of genetic disorders that mainly affect the bones it results in bones that break easily the severity may be mild to severe other symptoms may include a blue t￭ inge to the white s of the eye short height loose joints hearing loss breathing problems and problems with the teeth oi affects about one in 15 000 people outcomes depend on the type of disease most people however have good outcomes the condition has been described since ancient history the term o￭ ste￭ o￭ genesis im￭ perfec￭ ta came into use in 18￭ 95 and means imperfect bone formation
o￭ ste￭ o￭ genesis im￭ perfec￭ ta oi is a group of genetic disorders that mainly affect the bones it results in bones that break easily the severity may be mild to severe other symptoms may include a blue t￭ inge to the white s of the eye short height loose joints hearing loss breathing problems and problems with the teeth the underlying mechanism is usually a problem with connec￭ tive tissue due to a lack of type i coll￭ agen this occurs in more than 90 of cases due to mutations in the col 1 a 1 or col 1 a 2 genes these genetic problems are often inherited from a person s parents in an auto￭ som￭ al dominant manner or occur via a new mutation there are eight types with type i being the least severe and type ii the most severe diagnosis is often based on symptoms and may be confirmed by coll￭ agen or dna testing there is no cure maintaining a health healthy lifestyle by exercising and avoiding smoking can help prevent fractu￭ res treatment may include care of broken bones pain medication physical therapy brac￭ es or wheel￭ chairs and surgery a type of surgery that puts metal rods through long bones maybe done to strengthen them tentative evidence supports the use of medications of the bis￭ phosp￭ hon￭ ate type oi affects about one in 15 000 people outcomes depend on the type of disease most people however have good outcomes the condition has been described since ancient history the term o￭ ste￭ o￭ genesis im￭ perfec￭ ta came into use in 18￭ 95 and means imperfect bone formation
o￭ ste￭ o￭ petro￭ sis
cam￭ ur￭ ati – eng￭ el￭ mann disease
cam￭ ur￭ ati – eng￭ el￭ mann disease ced is a very rare auto￭ som￭ al dominant genetic disorder that causes characteristic anomalies in the skelet￭ on it is a form of dys￭ pl￭ asia patients typically have heavily thick￭ ened bones especially along the sh￭ af￭ ts of the long bones called di￭ ap￭ hy￭ seal dys￭ pl￭ asia the skull bones may be thick￭ ened so that the passages through the skull that carry nerves and blood vessels become narrowed possibly leading to sensory deficits blindness or deaf￭ ness
ma￭ ff￭ ucci syndrome
ma￭ ff￭ ucci syndrome is a spor￭ adic disease characterized by the presence of multiple en￭ ch￭ on￭ dro￭ mas associated with multiple hem￭ an￭ gi￭ om￭ as also lymp￭ han￭ gi￭ om￭ as may be apparent
met￭ ap￭ hy￭ seal dys￭ pl￭ asia
hereditary multiple exo￭ sto￭ ses
o￭ ste￭ o￭ po￭ i￭ ki￭ losis
multiple ep￭ ip￭ hy￭ seal dys￭ pl￭ asia
fair￭ bank s disease or multiple ep￭ ip￭ hy￭ seal dys￭ pl￭ asia med is a rare genetic disorder dominant form 1 in 10 000 births that affects the growing ends of bones bones usually el￭ ong￭ ate by a process that involves the depos￭ iting of car￭ til￭ age at the ends of the bones called os￭ sification this car￭ til￭ age then miner￭ alizes and hard￭ ens to become bone in med this process is defective
con￭ genital di￭ aphr￭ agm￭ atic her￭ nia
con￭ genital di￭ aphr￭ agm￭ atic her￭ nia cd￭ h is a birth defect of the di￭ aphr￭ ag￭ m the most common type of cd￭ h is a bo￭ ch￭ dal￭ ek her￭ nia other types include mor￭ g￭ ag￭ ni her￭ nia di￭ aphr￭ ag￭ m ev￭ entr￭ ation and central tend￭ on defects of the di￭ aphr￭ ag￭ m mal￭ formation of the di￭ aphr￭ ag￭ m allows the ab￭ domin￭ al organs to push into the chest cav￭ ity hindering proper lung formation
om￭ p￭ hal￭ oce￭ le
gastro￭ sch￭ is￭ is
gastro￭ sch￭ is￭ is represents a con￭ genital defect characterised by a defect in the an￭ terior ab￭ domin￭ al wall through which the ab￭ domin￭ al contents freely pro￭ tru￭ de there is no over￭ lying s￭ ac or per￭ it￭ on￭ eu￭ m and the size of the defect is usually less than 4 centi￭ metres 1 6 in the ab￭ domin￭ al wall defect is located at the junction of the um￭ bil￭ ic￭ us and normal skin and is almost always to the right of the um￭ bil￭ ic￭ us the defect occurs 5 – 8 weeks after conception most likely due to a disruption of the blood￭ supply to the developing ab￭ domin￭ al wall
pr￭ une belly syndrome
pr￭ une belly syndrome also referred to as ab￭ domin￭ al muscle deficiency syndrome con￭ genital absence of the ab￭ domin￭ al muscles eagle bar￭ rett syndrome ob￭ rin￭ sky syndrome fr￭ ö￭ hl￭ ich syndrome or rarely tri￭ ad syndrome is a rare genetic birth defect affecting about 1 in 40 000 births about 97 of those affected are male pr￭ une belly syndrome is a con￭ genital disorder of the ur￭ inary system characterized by a tri￭ ad of symptoms the syndrome is named for the mass of wr￭ ink￭ led skin that is often but not always present on the ab￭ dom￭ en of those with the disorder
eh￭ lers – dan￭ los syndrome
eh￭ lers – dan￭ los syndrome eds is a group of genetic connec￭ tive tissue disorders symptoms can vary from mildly loose joints to life threatening complications such as a￭ or￭ tic dis￭ section chronic pain or early o￭ ste￭ o￭ ar￭ thri￭ tis may also occur eds affects about 1 in 5 000 people globally excess mobility was first described by hippo￭ crates in 400 bc the syndrome is named after two physicians ed￭ v￭ ard eh￭ lers from denmark and henri alex￭ andre dan￭ los from france who described it at the turn of the 20 th century
eh￭ lers – dan￭ los syndrome eds is a group of genetic connec￭ tive tissue disorders symptoms can vary from mildly loose joints to life threatening complications such as a￭ or￭ tic dis￭ section chronic pain or early o￭ ste￭ o￭ ar￭ thri￭ tis may also occur eds is caused by a defect in the structure production or processing of coll￭ agen or proteins that interact with coll￭ agen the coll￭ agen in connec￭ tive tissue helps tissues resist de￭ formation coll￭ agen is an important contributor to the physical strength of tissue abnormal coll￭ agen renders these structures more elastic in some cases it can be life threatening people with joint pain may be mis￭ diagnosed with hypo￭ ch￭ on￭ dri￭ asis depression chronic fatigue syndrome or other conditions there may be poor knowledge about eds among practitioners there is no cure for eds treatment is supportive including close monitoring of the dig￭ estive ex￭ cre￭ tory and particularly the cardiovascular systems physical therapy brac￭ ing and corrective surgery may help with injuries and pain that tend to develop in certain types of eds although extra caution and special practices are advised to prevent permanent damage eds is a long term disease eds affects about 1 in 5 000 people globally excess mobility was first described by hippo￭ crates in 400 bc the syndrome is named after two physicians ed￭ v￭ ard eh￭ lers from denmark and henri alex￭ andre dan￭ los from france who described it at the turn of the 20 th century
poland syndrome
poland syndrome is a rare birth defect characterized by underdevelopment or absence of the chest muscle pec￭ tor￭ alis on one side of the body and usually also web￭ bing of the fingers cu￭ taneous syn￭ d￭ ac￭ ty￭ ly of the hand on the same side the ip￭ si￭ lateral hand in most affected individuals the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breast￭ bone ster￭ num on the other other ab￭ norm￭ alities may occur on the affected side of the tor￭ so in some cases additional muscles in the chest wall side and shoulder are missing or underdeveloped
po￭ pl￭ ite￭ al p￭ ter￭ y￭ gi￭ um syndrome
ich￭ thy￭ osis
ich￭ thy￭ osis plural ich￭ th￭ yo￭ ses is a heterogeneous family of at least 28 generalized mostly genetic skin disorders all types of ich￭ thy￭ osis have dry thick￭ ened scal￭ y or fla￭ ky skin in many types there is cracked skin which is said to resemble the scales on a fish the word ich￭ thy￭ osis comes from the ancient greek ἰ￭ χ￭ θ￭ ύ￭ ς ich￭ th￭ ys meaning fish
ich￭ thy￭ osis plural ich￭ th￭ yo￭ ses is a heterogeneous family of at least 28 generalized mostly genetic skin disorders all types of ich￭ thy￭ osis have dry thick￭ ened scal￭ y or fla￭ ky skin in many types there is cracked skin which is said to resemble the scales on a fish the word ich￭ thy￭ osis comes from the ancient greek ἰ￭ χ￭ θ￭ ύ￭ ς ich￭ th￭ ys meaning fish the severity of symptoms can vary enormously from the mil￭ dest most common type such as ich￭ thy￭ osis vul￭ gar￭ is which may be mistaken for normal dry skin up to life threatening conditions such as har￭ le￭ quin type ich￭ thy￭ osis ich￭ thy￭ osis vul￭ gar￭ is accounts for more than 95 of cases
nether￭ ton syndrome
ep￭ id￭ er￭ mol￭ ysis bul￭ los￭ a
ep￭ id￭ er￭ mol￭ ysis bul￭ los￭ a eb is a group of inherited connec￭ tive tissue diseases that cause bl￭ is￭ ters in the skin and mu￭ cos￭ al memb￭ ran￭ es with an incidence of 20 per million new￭ bor￭ ns in the united states it is a result of a defect in anch￭ oring between the ep￭ id￭ er￭ mis and der￭ mis resulting in friction and skin fragility its severity ranges from mild to lethal butter￭ fly children is a term often used to describe younger patients because the skin is said to be as fragile as a butter￭ fly ’ s wings cotton wool babies or in south america as crystal skin children
ep￭ id￭ er￭ mol￭ ysis bul￭ los￭ a simpl￭ ex
ep￭ id￭ er￭ mol￭ ysis bul￭ los￭ a simpl￭ ex e￭ bs is a disorder resulting from mutations in the genes en￭ coding ker￭ atin 5 or ker￭ atin 14 bl￭ ister formation of e￭ bs occurs at the der￭ mo￭ ep￭ id￭ er￭ mal junction sometimes e￭ bs is called ep￭ id￭ er￭ mol￭ y￭ tic
mil￭ roy s disease
x￭ ero￭ der￭ ma pi￭ gm￭ ent￭ o￭ sum
x￭ ero￭ der￭ ma pi￭ gm￭ ent￭ o￭ sum x￭ p is a rare auto￭ som￭ al rec￭ essive genetic disorder of dna repair in which the ability to repair damage caused by ultra￭ violet u￭ v light is deficient in extreme cases all exposure to sunlight must be forbidden no matter how small as such individuals with the disease are often col￭ lo￭ qu￭ ially referred to as moon child multiple bas￭ al cell carcin￭ om￭ as bas￭ ali￭ om￭ as and other skin m￭ align￭ ancies frequently occur at a young age in those with x￭ p me￭ ta￭ static m￭ align￭ ant mel￭ anom￭ a and squ￭ am￭ ous cell carcin￭ oma are the two most common causes of death in x￭ p victims this disease is present in both g￭ enders and in all races with an incidence of 1 250 000 in the united states x￭ p is roughly six times more common in japanese people than in other groups
x￭ ero￭ der￭ ma pi￭ gm￭ ent￭ o￭ sum x￭ p is a rare auto￭ som￭ al rec￭ essive genetic disorder of dna repair in which the ability to repair damage caused by ultra￭ violet u￭ v light is deficient in extreme cases all exposure to sunlight must be forbidden no matter how small as such individuals with the disease are often col￭ lo￭ qu￭ ially referred to as moon child multiple bas￭ al cell carcin￭ om￭ as bas￭ ali￭ om￭ as and other skin m￭ align￭ ancies frequently occur at a young age in those with x￭ p me￭ ta￭ static m￭ align￭ ant mel￭ anom￭ a and squ￭ am￭ ous cell carcin￭ oma are the two most common causes of death in x￭ p victims this disease is present in both g￭ enders and in all races with an incidence of 1 250 000 in the united states x￭ p is roughly six times more common in japanese people than in other groups normally damage to dna in ep￭ id￭ er￭ mal cells occurs during exposure to u￭ v light the absorption of the high energy light leads to the formation of py￭ ri￭ mid￭ ine di￭ mers namely cyclo￭ bu￭ tane py￭ ri￭ mid￭ ine di￭ mers and py￭ ri￭ mid￭ ine 6 4 py￭ ri￭ mi￭ done photo￭ products in a healthy normal human being the damage is first exc￭ ised by end￭ on￭ uc￭ le￭ ases dna poly￭ mer￭ ase then repairs the missing sequence and lig￭ ase seals the transaction this process is known as nucle￭ o￭ tide exc￭ ision repair
ma￭ stoc￭ y￭ to￭ sis
ma￭ stoc￭ y￭ to￭ sis one of the m￭ ast cell diseases is a rare m￭ ast cell activation disorder of both children and adults caused by the presence of too many m￭ ast cells ma￭ stoc￭ y￭ tes and cd 34 m￭ ast cell precursors people affected by ma￭ stoc￭ y￭ to￭ sis are susceptible to it￭ ching hi￭ ves and an￭ ap￭ hy￭ lac￭ tic shock caused by the release of hist￭ amine from m￭ ast cells the current classifications definitions and diagnostic criteria for ma￭ stoc￭ y￭ to￭ sis are being reviewed for revision to better describe the collection of related disorders
in￭ contin￭ entia pi￭ gm￭ enti
limb – mam￭ mary syndrome
limb – mam￭ mary syndrome is a cu￭ taneous condition characterized by p 63 mutations
ec￭ to￭ der￭ mal dys￭ pl￭ asia
ec￭ to￭ der￭ mal dys￭ pl￭ asia is not a single disorder but a group of syndro￭ mes all deriving from ab￭ norm￭ alities of the ec￭ to￭ der￭ mal structures more than 150 different syndro￭ mes have been identified despite some of the syndro￭ mes having different genetic causes the symptoms are sometimes very similar diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is auto￭ som￭ al dominant or rec￭ essive
ec￭ to￭ der￭ mal dys￭ pl￭ asia is not a single disorder but a group of syndro￭ mes all deriving from ab￭ norm￭ alities of the ec￭ to￭ der￭ mal structures more than 150 different syndro￭ mes have been identified despite some of the syndro￭ mes having different genetic causes the symptoms are sometimes very similar diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is auto￭ som￭ al dominant or rec￭ essive worldwide around 7 000 people have been diagnosed with an ec￭ to￭ der￭ mal dys￭ pl￭ asia condition some ed conditions are only present in single family units and derive from very recent mutations ec￭ to￭ der￭ mal dys￭ pl￭ asi￭ as can occur in any race but are much more prevalent in cauca￭ sians than any other group and especially in fair cauca￭ sians ec￭ to￭ der￭ mal dys￭ pl￭ asi￭ as are described as her￭ itable conditions in which there are ab￭ norm￭ alities of two or more ec￭ to￭ der￭ mal structures such as the hair teeth nails sweat g￭ lands sali￭ vary g￭ lands cran￭ ial facial structure digits and other parts of the body
der￭ mat￭ opath￭ ia pi￭ gm￭ ent￭ osa re￭ ticul￭ aris
hypo￭ hi￭ dro￭ tic ec￭ to￭ der￭ mal dys￭ pl￭ asia
hypo￭ hi￭ dro￭ tic ec￭ to￭ der￭ mal dys￭ pl￭ asia also known as an￭ hi￭ dro￭ tic ec￭ to￭ der￭ mal dys￭ pl￭ asia and christ siemens tou￭ raine syndrome is one of about 150 types of ec￭ to￭ der￭ mal dys￭ pl￭ asia in humans before birth these disorders result in the abnormal development of structures including the skin hair nails teeth and sweat g￭ lands
e￭ em syndrome
e￭ em syndrome or ec￭ to￭ der￭ mal dys￭ pl￭ asia ec￭ tro￭ d￭ ac￭ ty￭ ly and mac￭ ular dy￭ stro￭ phy syndrome is an auto￭ som￭ al rec￭ essive con￭ genital mal￭ formation disorder affecting tissues associated with the ec￭ to￭ der￭ m skin hair nails teeth and also the hands feet and eyes
hay – wells syndrome
hay – wells syndrome also known as a￭ ec syndrome see is one of at least 150 known types of ec￭ to￭ der￭ mal dys￭ pl￭ asia these disorders affect tissues that arise from the ec￭ to￭ der￭ mal germ layer such as skin hair and nails
port wine stain
a port wine stain nev￭ us flamm￭ eus also commonly called a fire￭ mark is almost always a birth￭ mark in rare cases it can develop in early childhood it is caused by a vascular anomaly a cap￭ ill￭ ary mal￭ formation in the skin port wine stain￭ s are named for their color￭ ation which is similar to a portuguese fortified red wine port wine stain￭ s may be part of a syndrome such as st￭ urge – weber syndrome or k￭ lip￭ pel – tr￭ é￭ na￭ un￭ ay – weber syndrome
focal der￭ mal hypo￭ pl￭ asia
focal der￭ mal hypo￭ pl￭ asia also known as gol￭ tz syndrome is a form of ec￭ to￭ der￭ mal dys￭ pl￭ asia it is a multi￭ system disorder characterized primarily by skin manifestations to the atro￭ ph￭ ic and hypo￭ plastic areas of skin which are present at birth these defects manifest as yellow pink bu￭ mps on the skin and pi￭ gm￭ entation changes the disorder is also associated with short￭ ness of stature and some evidence suggests that it can cause epi￭ le￭ psy
hai￭ ley – hai￭ ley disease
dy￭ sk￭ er￭ at￭ osis con￭ gen￭ ita
bloom syndrome
bloom syndrome often abbreviated as bs in literature also known as bloom tor￭ re mach￭ ac￭ ek syndrome is a rare auto￭ som￭ al rec￭ essive disorder characterized by short stature pre￭ disposition to the development of cancer and genom￭ ic instability bs is caused by mutations in the bl￭ m gene leading to mut￭ ated dna hel￭ ic￭ ase protein formation cells from a person with bloom syndrome exhibit a striking genom￭ ic instability that includes excessive cros￭ so￭ vers between homo￭ log￭ ous chro￭ mo￭ som￭ es and sister ch￭ rom￭ ati￭ d exchanges s￭ ces the condition was discovered and first described by new york der￭ mato￭ logist dr david bloom in 1954
kind￭ ler syndrome
sch￭ ö￭ pf – schulz – pass￭ ar￭ ge syndrome
mel￭ eda disease
roth￭ m￭ und – thom￭ son syndrome
roth￭ m￭ und – thom￭ son syndrome r￭ ts also known as po￭ i￭ kilo￭ der￭ ma atro￭ ph￭ ic￭ ans with cat￭ ar￭ act or po￭ i￭ kilo￭ der￭ ma con￭ gen￭ ital￭ e is a rare auto￭ som￭ al rec￭ essive skin condition originally described by august von roth￭ m￭ und 18￭ 30 – 1906 in 1868 matthew sydney thom￭ son 18￭ 94 – 1969 published further descriptions in 1936 there have been several reported cases associated with o￭ ste￭ os￭ ar￭ coma a hereditary genetic basis mutations in the dna hel￭ ic￭ ase rec￭ q￭ l 4 gene causing problems during initiation of dna replic￭ ation has been implicated in the syndrome
d￭ ari￭ er s disease
d￭ ari￭ er s disease dar also known as d￭ ari￭ er disease d￭ ari￭ er – white disease dy￭ sk￭ er￭ at￭ osis fol￭ lic￭ ul￭ aris and ker￭ at￭ osis fol￭ lic￭ ul￭ aris is an auto￭ som￭ al dominant disorder discovered by french der￭ mato￭ logist fer￭ din￭ and jean d￭ ari￭ er d￭ ari￭ er s is characterized by dark cru￭ sty pat￭ ches on the skin sometimes containing p￭ us the cru￭ sty pat￭ ches are also known as ker￭ ato￭ tic pap￭ ules ker￭ at￭ osis fol￭ lic￭ ul￭ aris or dy￭ sk￭ er￭ at￭ osis fol￭ lic￭ ul￭ aris
d￭ ari￭ er s disease dar also known as d￭ ari￭ er disease d￭ ari￭ er – white disease dy￭ sk￭ er￭ at￭ osis fol￭ lic￭ ul￭ aris and ker￭ at￭ osis fol￭ lic￭ ul￭ aris is an auto￭ som￭ al dominant disorder discovered by french der￭ mato￭ logist fer￭ din￭ and jean d￭ ari￭ er d￭ ari￭ er s is characterized by dark cru￭ sty pat￭ ches on the skin sometimes containing p￭ us the cru￭ sty pat￭ ches are also known as ker￭ ato￭ tic pap￭ ules ker￭ at￭ osis fol￭ lic￭ ul￭ aris or dy￭ sk￭ er￭ at￭ osis fol￭ lic￭ ul￭ aris mild forms of the disease are the most common consisting solely of skin r￭ ashes that fl￭ are up under certain conditions such as high hum￭ idity high stress or tight fitting clothes even in mild forms short stature combined with poorly formed finger￭ nails containing vertical stri￭ ations are diagnostic
ger￭ o￭ der￭ mia o￭ ste￭ odys￭ plas￭ tica
ger￭ o￭ der￭ mia o￭ ste￭ odys￭ plas￭ tica go also called ger￭ o￭ der￭ ma o￭ ste￭ odys￭ plas￭ tic￭ um and walt dis￭ ney dwar￭ f￭ ism is a rare auto￭ som￭ al rec￭ essive connec￭ tive tissue disorder included in the spectrum of cu￭ tis la￭ xa syndro￭ mes usage of the name walt dis￭ ney dwar￭ f￭ ism is attributed to the first known case of the disorder documented in a 1950 journal report in which the authors described five affected members from a swiss family as having the physical appearance of dwar￭ ves from a walt dis￭ ney film
hypo￭ tric￭ ho￭ sis with juvenile mac￭ ular dy￭ stro￭ phy
hypo￭ tric￭ ho￭ sis with juvenile mac￭ ular dy￭ stro￭ phy h￭ j￭ md or cd￭ h 3 is an extremely rare con￭ genital disease characterized by spar￭ se hair growth hypo￭ tric￭ ho￭ sis from birth and progressive mac￭ ular cor￭ ne￭ al dy￭ stro￭ phy
pil￭ i annul￭ ati
pil￭ i annul￭ ati also known as ring￭ ed hair is a genetic trait in which the hair seems ban￭ ded by altern￭ ating segments of light and dark color when seen in reflected light
un￭ comb￭ able hair syndrome
un￭ comb￭ able hair syndrome also known as pil￭ i tri￭ ang￭ uli et can￭ alic￭ uli sp￭ un glass hair and chev￭ eux in￭ co￭ i￭ ff￭ ables is a rare structural anomaly of the hair with a variable degree of effect it was first reported in the early 20 th century and was described in the 1970 s it becomes apparent from as little as 3 months to up to 12 years
mon￭ i￭ le￭ thri￭ x
mon￭ i￭ le￭ thri￭ x also referred to as be￭ aded hair is a rare auto￭ som￭ al dominant hair disease that results in short fragile broken hair that appears be￭ aded it comes from the latin word for necklace mon￭ ile and the greek word for hair thri￭ x
marie un￭ na hereditary hypo￭ tric￭ ho￭ sis
marie un￭ na hereditary hypo￭ tric￭ ho￭ sis also known as marie un￭ na hypo￭ tric￭ ho￭ sis is an auto￭ som￭ al dominant condition characterized by scal￭ p hair that is spar￭ se or absent at birth with variable co￭ arse wi￭ ry hair reg￭ row￭ th in childhood and potential loss again at pu￭ ber￭ ty
p￭ ach￭ y￭ ony￭ ch￭ ia con￭ gen￭ ita
p￭ ach￭ y￭ ony￭ ch￭ ia con￭ gen￭ ita is an auto￭ som￭ al dominant skin disorder
ap￭ la￭ sia cu￭ tis con￭ gen￭ ita
ap￭ la￭ sia cu￭ tis con￭ gen￭ ita also known as cu￭ tis ap￭ la￭ sia con￭ genital absence of skin and con￭ genital scars is the most common con￭ genital cic￭ at￭ ric￭ ial al￭ op￭ ec￭ ia and is a con￭ genital focal absence of ep￭ id￭ er￭ mis with or without evidence of other layers of the skin it can be associated with jo￭ han￭ son bli￭ zz￭ ard syndrome ad￭ ams oliver syndrome tr￭ is￭ omy 13 and wolf hir￭ sch￭ horn syndrome it can also seen with exposure to meth￭ im￭ azole and carb￭ im￭ azole in uter￭ o this der￭ mat￭ ological manifestation has been linked to pep￭ ti￭ d￭ ase d hap￭ lo￭ in￭ sufficiency and a deletion in chro￭ mo￭ some 19
p￭ ha￭ kom￭ at￭ osis
p￭ ha￭ kom￭ ato￭ ses or ne￭ uro oc￭ ul￭ o cu￭ taneous syndro￭ mes neuro￭ cu￭ taneous disorders are multi￭ system disorders that have characteristic central nervous system oc￭ ular and cu￭ taneous le￭ sions of variable severity the skin and the brain have a common ec￭ to￭ der￭ mal origin so there are many genetic and acquired diseases that affect both tissues however in some conditions such as von hip￭ pel lind￭ au disease ec￭ to￭ der￭ mal presentation is minimal
neuro￭ fi￭ bro￭ mat￭ osis
neuro￭ fi￭ bro￭ mat￭ osis type i
neuro￭ fi￭ bro￭ mat￭ osis type i n￭ f 1 is a tumor disorder that is caused by the mutation of a gene on chro￭ mo￭ some 17 that is responsible for control of cell division n￭ f 1 causes tumors along the nervous system and can grow anywhere on the body n￭ f 1 is one of the most common genetic disorders and is not limited to any person s race or sex currently 2015 there are at least 100 000 people in the u s and about 150 000 people in the uk who have been diagnosed with n￭ f common symptoms of n￭ f 1 include bro￭ wn￭ ish red spots in the colored part of the eye called lis￭ ch no￭ d￭ ules benign skin tumors called neuro￭ fi￭ bro￭ mas and larger benign tumors of nerves called pl￭ exi￭ form neuro￭ fi￭ bro￭ mas sco￭ li￭ osis cur￭ v￭ ature of the sp￭ ine learning disabilities vision disorders mental disabilities multiple café au la￭ it
neuro￭ fi￭ bro￭ mat￭ osis type i n￭ f 1 is a tumor disorder that is caused by the mutation of a gene on chro￭ mo￭ some 17 that is responsible for control of cell division n￭ f 1 causes tumors along the nervous system and can grow anywhere on the body n￭ f 1 is one of the most common genetic disorders and is not limited to any person s race or sex currently 2015 there are at least 100 000 people in the u s and about 150 000 people in the uk who have been diagnosed with n￭ f common symptoms of n￭ f 1 include bro￭ wn￭ ish red spots in the colored part of the eye called lis￭ ch no￭ d￭ ules benign skin tumors called neuro￭ fi￭ bro￭ mas and larger benign tumors of nerves called pl￭ exi￭ form neuro￭ fi￭ bro￭ mas sco￭ li￭ osis cur￭ v￭ ature of the sp￭ ine learning disabilities vision disorders mental disabilities multiple café au la￭ it t￭ cl name of specifics spots spots and epi￭ le￭ psy n￭ f 1 is a developmental syndrome caused by ger￭ m￭ line mutations in neuro￭ fi￭ bro￭ min a gene that is involved in the ras path￭ way ras￭ opathy due to its r￭ arity and to the fact that genetic diagnosis has been used only in recent years in the past n￭ f 1 was in same cases confused with another syndrome with vaguely similar symptoms the legi￭ us syndrome n￭ f 1 is an age specific disease most signs of n￭ f 1 are visible after birth during infancy but many symptoms of n￭ f 1 occur as the person ages and has hormonal changes n￭ f 1 was formerly known as von reck￭ ling￭ ha￭ usen disease after the researcher friedrich daniel von reck￭ ling￭ ha￭ usen who first documented the disorder
tuber￭ ous sclerosis
tuber￭ ous sclerosis is a rare multi￭ system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys heart liver eyes lungs and skin a combination of symptoms may include seizures intellectual disability developmental delay behavioral problems skin ab￭ norm￭ alities and lung and kidney disease tuber￭ ous sclerosis is caused by a mutation of either of two genes ts￭ c 1 and ts￭ c 2 which code for the proteins ham￭ ar￭ tin and tuber￭ in respectively these proteins act as tumor growth sup￭ pres￭ sors agents that regulate cell proliferation and differentiation
tuber￭ ous sclerosis is a rare multi￭ system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys heart liver eyes lungs and skin a combination of symptoms may include seizures intellectual disability developmental delay behavioral problems skin ab￭ norm￭ alities and lung and kidney disease tuber￭ ous sclerosis is caused by a mutation of either of two genes ts￭ c 1 and ts￭ c 2 which code for the proteins ham￭ ar￭ tin and tuber￭ in respectively these proteins act as tumor growth sup￭ pres￭ sors agents that regulate cell proliferation and differentiation the name composed of the latin tu￭ ber sw￭ elling and the greek sk￭ ler￭ os hard refers to the pathological finding of thick firm and pale gy￭ ri called tubers in the brains of patients post mortem these tubers were first described by dé￭ sir￭ é mag￭ lo￭ ire bour￭ ne￭ ville in 18￭ 80 the cor￭ tical manifestations may sometimes still be known by the ep￭ on￭ ym bour￭ ne￭ ville s disease english b￭ ɔ￭ ə￭ r￭ n￭ ˈ￭ vi￭ ː￭ l or bour￭ ne￭ ville – pr￭ ing￭ le disease after bour￭ ne￭ ville and john james pr￭ ing￭ le
von hip￭ pel – lind￭ au disease
pe￭ ut￭ z – je￭ gh￭ ers syndrome
pe￭ ut￭ z – je￭ gh￭ ers syndrome often abbreviated p￭ j￭ s is an auto￭ som￭ al dominant genetic disorder characterized by the development of benign ham￭ ar￭ tom￭ at￭ ous poly￭ ps in the gastro￭ intest￭ inal tract and hyper￭ pi￭ gm￭ ented mac￭ ules on the lips and oral mu￭ co￭ sa mel￭ an￭ osis this syndrome can be classed as one of various hereditary intest￭ inal poly￭ pos￭ is syndro￭ mes and one of various ham￭ ar￭ tom￭ at￭ ous poly￭ pos￭ is syndro￭ mes it has an incidence of approximately 1 in 25 000 to 300 000 births
st￭ urge – weber syndrome
st￭ urge – weber syndrome sometimes referred to as encephal￭ o￭ tri￭ gem￭ inal an￭ gi￭ om￭ at￭ osis is a rare con￭ genital neuro￭ logical and skin disorder it is one of the p￭ ha￭ kom￭ ato￭ ses and is often associated with port wine stain￭ s of the face gl￭ au￭ coma seizures mental retar￭ dation and ip￭ si￭ lateral le￭ p￭ tom￭ en￭ ing￭ e￭ al an￭ gi￭ oma cere￭ br￭ al mal￭ formations and tumors st￭ urge weber syndrome can be classified into three different types type 1 includes facial and le￭ p￭ tom￭ en￭ ing￭ e￭ al an￭ gi￭ om￭ as as well as the possibility of gl￭ au￭ coma or chor￭ o￭ idal le￭ sions normally only one side of the brain is affected this type is the most common type 2 involvement includes a facial an￭ gi￭ oma port wine stain with a possibility of gl￭ au￭ coma developing there is not any evidence of brain involvement symptoms can show at any time beyond the initi
st￭ urge – weber syndrome sometimes referred to as encephal￭ o￭ tri￭ gem￭ inal an￭ gi￭ om￭ at￭ osis is a rare con￭ genital neuro￭ logical and skin disorder it is one of the p￭ ha￭ kom￭ ato￭ ses and is often associated with port wine stain￭ s of the face gl￭ au￭ coma seizures mental retar￭ dation and ip￭ si￭ lateral le￭ p￭ tom￭ en￭ ing￭ e￭ al an￭ gi￭ oma cere￭ br￭ al mal￭ formations and tumors st￭ urge weber syndrome can be classified into three different types type 1 includes facial and le￭ p￭ tom￭ en￭ ing￭ e￭ al an￭ gi￭ om￭ as as well as the possibility of gl￭ au￭ coma or chor￭ o￭ idal le￭ sions normally only one side of the brain is affected this type is the most common type 2 involvement includes a facial an￭ gi￭ oma port wine stain with a possibility of gl￭ au￭ coma developing there is not any evidence of brain involvement symptoms can show at any time beyond the initial diagnosis of the facial an￭ gi￭ oma the symptoms can include gl￭ au￭ coma cere￭ br￭ al blood flow ab￭ norm￭ alities and headaches more research is needed on this type of st￭ urge weber syndrome type 3 has le￭ p￭ tom￭ en￭ ing￭ e￭ al an￭ gi￭ oma involvement exclusively the facial an￭ gi￭ oma is absent and gl￭ au￭ coma rarely occurs this type is only diagnosed via brain scan st￭ urge weber is an embry￭ onal developmental anomaly resulting from errors in mes￭ o￭ der￭ mal and ec￭ to￭ der￭ mal development unlike other neuro￭ cu￭ taneous disorders p￭ ha￭ kom￭ ato￭ ses st￭ urge weber occurs spor￭ ad￭ ically i e does not have a hereditary eti￭ ology it is caused by a som￭ atic activating mutation occurring in the gn￭ aq gene radiological findings will show tr￭ am track calci￭ fications on ct bilaterally
ham￭ ar￭ tom￭ a
a ham￭ ar￭ tom￭ a is a benign focal mal￭ formation that resembles a ne￭ op￭ las￭ m in the tissue of its origin this is not a m￭ align￭ ant tumor and it grows at the same rate as the surrounding tissues it is composed of tissue elements normally found at that site but which are growing in a dis￭ organized mass they occur in many different parts of the body and are most often as￭ ymp￭ tomatic and un￭ detected unless seen on an image taken for another reason incid￭ ent￭ al￭ oma
fe￭ tal alcohol spectrum disorder
fe￭ tal alcohol spectrum disorders fas￭ ds are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy problems may include an abnormal appearance short height low body weight small head size poor coordination low intelligence behavior problems and problems with hearing or seeing those affected are more likely to have trouble in school legal problems participate in high risk behaviors and have trouble with alcohol or other drugs the most severe form of the condition is known as fe￭ tal alcohol syndrome f￭ as other types include partial fe￭ tal alcohol syndrome p￭ f￭ as alcohol related neuro￭ developmental disorder ar￭ nd and alcohol related birth defects ar￭ b￭ d
fe￭ tal alcohol spectrum disorders fas￭ ds are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy problems may include an abnormal appearance short height low body weight small head size poor coordination low intelligence behavior problems and problems with hearing or seeing those affected are more likely to have trouble in school legal problems participate in high risk behaviors and have trouble with alcohol or other drugs the most severe form of the condition is known as fe￭ tal alcohol syndrome f￭ as other types include partial fe￭ tal alcohol syndrome p￭ f￭ as alcohol related neuro￭ developmental disorder ar￭ nd and alcohol related birth defects ar￭ b￭ d fe￭ tal alcohol spectrum disorders are caused by drinking alcohol during pregnancy surveys from the united states have found about 10 of pregnant women have drunk alcohol in the last month and 20 to 30 drank at some point during the pregnancy about 4 7 of north american women who are pregnant have alcoholism the risk of problems depends on the amount consumed and the frequency of consumption as well as when during pregnancy the alcohol is consumed other risk factors include an older mother smoking and poor diet there is no known safe amount or safe time to drink during pregnancy while drinking small amounts of alcohol does not cause ab￭ norm￭ alities in the face it may cause behavioral issues alcohol crosses the blood brain barrier and both directly and indirectly affects a developing baby diagnosis is based on signs and symptoms in the person fe￭ tal alcohol spectrum disorders are preventable by avoiding alcohol medical organizations recommend no alcohol during pregnancy for this reason while the condition is permanent treatment can improve outcomes interventions may include parent child interaction therapy efforts to modify child behavior and possibly medications fas￭ d is estimated to affect between 2 and 5 of people in the united states and western europe f￭ as is believed to occur in between 0 2 and 9 per 1000 live births in the united states in south africa some populations have rates as high as 9 the negative effects of alcohol have been described since ancient times the lifetime cost per child with f￭ as was 2 000 000 in 2002 the term fe￭ tal alcohol syndrome was first used in 1973
kab￭ uki syndrome
kab￭ uki syndrome also previously known as kab￭ uki makeup syndrome k￭ ms or ni￭ ik￭ awa – ku￭ ro￭ ki syndrome is a pedi￭ atric con￭ genital disorder of suspected genetic origin with multiple con￭ genital anomalies and intellectual disabilities it is quite rare affecting roughly one in 32 000 births it was identified and described in 1981 by two japanese groups led by the scientists n￭ ori￭ o ni￭ ik￭ awa and yo￭ shi￭ kaz￭ u ku￭ ro￭ ki it is named kab￭ uki syndrome because of the facial resemblance of affected individuals to stage makeup used in kab￭ uki a japanese traditional theat￭ r￭ ical form
ant￭ ley – bi￭ x￭ ler syndrome
ant￭ ley – bi￭ x￭ ler syndrome also called tra￭ pe￭ zo￭ ido￭ cephal￭ y sy￭ no￭ sto￭ sis syndrome is a rare very severe auto￭ som￭ al rec￭ essive con￭ genital disorder characterized by mal￭ formations and de￭ form￭ ities affecting the majority of the skelet￭ on and other areas of the body
bran￭ chio oto ren￭ al syndrome
bran￭ chio oto ren￭ al syndrome bor also known as bran￭ chi￭ oo￭ to￭ ren￭ al syndrome or bor syndrome is an auto￭ som￭ al dominant genetic disorder involving the kidneys ears and neck it often has also been described as mel￭ nick fr￭ as￭ er syndrome
ap￭ ert syndrome
ap￭ ert syndrome is a form of acro￭ cephal￭ o￭ syn￭ d￭ ac￭ ty￭ ly a con￭ genital disorder characterized by mal￭ formations of the skull face hands and feet it is classified as a bran￭ ch￭ ial arch syndrome affecting the first bran￭ ch￭ ial or phar￭ yn￭ ge￭ al arch the precursor of the max￭ illa and man￭ di￭ ble disturbances in the development of the bran￭ ch￭ ial ar￭ ches in fe￭ tal development create lasting and widespread effects
3 c syndrome
3 c syndrome also known as ccc dys￭ pl￭ asia cr￭ ani￭ oc￭ ere￭ bel￭ lo￭ cardiac dys￭ pl￭ asia or rit￭ sch￭ er – sch￭ in￭ zel syndrome is a rare condition whose symptoms include heart defects cere￭ bell￭ ar hypo￭ pl￭ asia and cran￭ ial dys￭ morph￭ ism it was first described in the medical literature in 1987 by rit￭ sch￭ er and sch￭ in￭ zel for whom the disorder is sometimes named
fr￭ as￭ er syndrome
fr￭ as￭ er syndrome also known as me￭ yer sch￭ wick￭ er￭ ath s syndrome fr￭ as￭ er françois syndrome or ul￭ l￭ rich fe￭ ich￭ tiger syndrome is an auto￭ som￭ al rec￭ essive con￭ genital disorder fr￭ as￭ er syndrome is named for the gene￭ tic￭ ist george r fr￭ as￭ er who first described the syndrome in 1962
pierre robin syndrome
acro￭ cephal￭ o￭ syn￭ d￭ ac￭ ty￭ lia
acro￭ cephal￭ o￭ syn￭ d￭ ac￭ ty￭ lia or acro￭ cephal￭ o￭ syn￭ d￭ ac￭ ty￭ ly is the common presentation of cran￭ io￭ sy￭ no￭ sto￭ sis and syn￭ d￭ ac￭ ty￭ ly
carpenter syndrome
gol￭ den￭ har syndrome
gol￭ den￭ har syndrome also known as oc￭ ul￭ o aur￭ icul￭ o vertebr￭ al o￭ av syndrome is a rare con￭ genital defect characterized by incomplete development of the ear nose soft pal￭ ate lip and man￭ di￭ ble it is associated with anom￭ alous development of the first bran￭ ch￭ ial arch and second bran￭ ch￭ ial arch common clinical manifestations include lim￭ bal der￭ mo￭ ids pre￭ aur￭ icular skin tags and str￭ ab￭ is￭ mus the term is sometimes used inter￭ change￭ ably with hem￭ i￭ facial micro￭ som￭ ia although this definition is usually reserved for cases without internal organ verte￭ bra￭ e disruption
gol￭ den￭ har syndrome also known as oc￭ ul￭ o aur￭ icul￭ o vertebr￭ al o￭ av syndrome is a rare con￭ genital defect characterized by incomplete development of the ear nose soft pal￭ ate lip and man￭ di￭ ble it is associated with anom￭ alous development of the first bran￭ ch￭ ial arch and second bran￭ ch￭ ial arch common clinical manifestations include lim￭ bal der￭ mo￭ ids pre￭ aur￭ icular skin tags and str￭ ab￭ is￭ mus the term is sometimes used inter￭ change￭ ably with hem￭ i￭ facial micro￭ som￭ ia although this definition is usually reserved for cases without internal organ verte￭ bra￭ e disruption it affects between 1 3 500 to 1 26 000 live births with a male female ratio of 3 2
mö￭ bi￭ us syndrome
p￭ fe￭ i￭ ffer syndrome
p￭ fe￭ i￭ ffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face in addition the syndrome includes ab￭ norm￭ alities of the hands such as wide and devi￭ ated thum￭ bs and feet such as wide and devi￭ ated big toes p￭ fe￭ i￭ ffer syndrome affects about 1 in 100 000 births
cycl￭ op￭ ia
cycl￭ op￭ ia also cyclo￭ cephal￭ y or sy￭ no￭ phthal￭ mia is a rare form of holo￭ pro￭ sen￭ cephal￭ y and is a con￭ genital disorder birth defect characterized by the failure of the embryonic pro￭ sen￭ cephal￭ on to properly divide the or￭ bits of the eye into two ca￭ vities its incidence is 1 in 16 000 in born animals and 1 in 200 in mis￭ carried fet￭ uses
pr￭ ader – will￭ i syndrome
pr￭ ader – will￭ i syndrome p￭ ws is a genetic disorder due to loss of function of specific genes on chro￭ mo￭ some 15 in new￭ bor￭ ns symptoms include weak muscles poor feeding and slow development in childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes there is also typically mild to moderate intellectual impairment and behavioral problems often the fore￭ head is narrow hands and feet small height short skin light in color and they are unable to have children
no￭ on￭ an syndrome
no￭ on￭ an syndrome ns is a relatively common auto￭ som￭ al dominant con￭ genital disorder and is named after jacqu￭ eline no￭ on￭ an a pedi￭ atric cardi￭ o￭ logist it is referred to as the male version of turner s syndrome and is still sometimes described in this way however the genetic causes of no￭ on￭ an syndrome and turner syndrome are distinct the principal features include con￭ genital heart defect typically pul￭ mon￭ ary valve sten￭ osis also atri￭ al sep￭ tal defect and hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy short stature learning problems pec￭ tus exc￭ av￭ at￭ um impaired blood clo￭ tting and a characteristic configuration of facial features including a web￭ bed neck and a flat nose bridge ns is a ras￭ opathy and is one of several disorders that are caused by a disruption of ras map￭ k path￭ way sign￭ aling
no￭ on￭ an syndrome ns is a relatively common auto￭ som￭ al dominant con￭ genital disorder and is named after jacqu￭ eline no￭ on￭ an a pedi￭ atric cardi￭ o￭ logist it is referred to as the male version of turner s syndrome and is still sometimes described in this way however the genetic causes of no￭ on￭ an syndrome and turner syndrome are distinct the principal features include con￭ genital heart defect typically pul￭ mon￭ ary valve sten￭ osis also atri￭ al sep￭ tal defect and hyper￭ troph￭ ic cardi￭ om￭ y￭ opathy short stature learning problems pec￭ tus exc￭ av￭ at￭ um impaired blood clo￭ tting and a characteristic configuration of facial features including a web￭ bed neck and a flat nose bridge ns is a ras￭ opathy and is one of several disorders that are caused by a disruption of ras map￭ k path￭ way sign￭ aling it is believed that between approximately 1 in 1 000 and 1 in 2 500 children worldwide are born with ns it is one of the most common genetic syndro￭ mes associated with con￭ genital heart disease similar in frequency to down syndrome however the range and severity of features can vary greatly in patients with ns therefore the syndrome is not always identified at an early age
rap￭ ad￭ il￭ ino syndrome
rap￭ ad￭ il￭ ino syndrome is an auto￭ som￭ al rec￭ essive con￭ genital disorder characterized by rad￭ ial and pat￭ ell￭ ar ap￭ la￭ sia short stature ar￭ ched or cle￭ ft pal￭ ate limb mal￭ formation and dis￭ located joints it is more prevalent in finland than elsewhere in the world it has been associated with rec￭ q￭ l 4 this is also associated with roth￭ m￭ und thom￭ son syndrome and ball￭ er ger￭ old syndrome
aar￭ s￭ ko￭ g – scott syndrome
aar￭ s￭ ko￭ g – scott syndrome is a rare disease inherited as auto￭ som￭ al dominant or x linked and characterized by short stature facial ab￭ norm￭ alities sk￭ el￭ etal and genital anomalies the aar￭ s￭ ko￭ g – scott syndrome a￭ as is also known as the aar￭ s￭ ko￭ g syndrome fac￭ io￭ dig￭ ito￭ genital syndrome sh￭ aw￭ l scro￭ tum syndrome and fac￭ io￭ genital dys￭ pl￭ asia
ro￭ bin￭ ow syndrome
ro￭ bin￭ ow syndrome is an extremely rare genetic disorder characterized by short lim￭ bed dwar￭ f￭ ism ab￭ norm￭ alities in the head face and external gen￭ italia as well as vertebr￭ al segm￭ entation the disorder was first described in 1969 by human gene￭ tic￭ ist me￭ in￭ hard ro￭ bin￭ ow along with physicians fre￭ der￭ ic n sil￭ ver￭ man and hugo d smith in the american journal of diseases of children by 2002 over 100 cases had been documented and introduced into medical literature
ro￭ bin￭ ow syndrome is an extremely rare genetic disorder characterized by short lim￭ bed dwar￭ f￭ ism ab￭ norm￭ alities in the head face and external gen￭ italia as well as vertebr￭ al segm￭ entation the disorder was first described in 1969 by human gene￭ tic￭ ist me￭ in￭ hard ro￭ bin￭ ow along with physicians fre￭ der￭ ic n sil￭ ver￭ man and hugo d smith in the american journal of diseases of children by 2002 over 100 cases had been documented and introduced into medical literature two forms of the disorder exist dominant and rec￭ essive of which the former is more common patients with the dominant version often suffer moderately from the aforementioned symptoms rec￭ essive cases on the other hand are usually more physically marked and individuals may exhibit more sk￭ el￭ etal ab￭ norm￭ alities the rec￭ essive form is particularly frequent in turkey however this can likely be explained by a common anc￭ est￭ or as these patients families can be traced to a single town in eastern turkey clusters of the auto￭ som￭ al rec￭ essive form have also been documented in oman and czechoslovakia the syndrome is also known as ro￭ bin￭ ow sil￭ ver￭ man smith syndrome ro￭ bin￭ ow dwar￭ f￭ ism fe￭ tal face fe￭ tal face syndrome fe￭ tal fac￭ ies syndrome ac￭ ral dy￭ so￭ sto￭ sis with facial and genital ab￭ norm￭ alities or mes￭ om￭ el￭ ic dwar￭ f￭ ism small gen￭ italia syndrome the rec￭ essive form was previously known as co￭ ves￭ dem syndrome
du￭ bo￭ witz syndrome
du￭ bo￭ witz syndrome is a rare genetic disorder characterized by micro￭ cephal￭ y growth retar￭ dation and a characteristic facial appearance small round tri￭ ang￭ ular shaped with a pointed rec￭ eding chin a broad wide ti￭ pped nose and wide set eyes with dro￭ oping eye￭ li￭ ds symptoms vary among patients but other characteristics include a soft high pitched voice partial web￭ bing of fingers and toes pal￭ ate de￭ formations genital ab￭ norm￭ alities ecz￭ ema hyper￭ activity preference for concrete thinking over abstract language difficulties and aversion to crowds the patho￭ genesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease the main method of diagnosis is through identification of facial phen￭ o￭ type since it was first described in 1965 by english phy
du￭ bo￭ witz syndrome is a rare genetic disorder characterized by micro￭ cephal￭ y growth retar￭ dation and a characteristic facial appearance small round tri￭ ang￭ ular shaped with a pointed rec￭ eding chin a broad wide ti￭ pped nose and wide set eyes with dro￭ oping eye￭ li￭ ds symptoms vary among patients but other characteristics include a soft high pitched voice partial web￭ bing of fingers and toes pal￭ ate de￭ formations genital ab￭ norm￭ alities ecz￭ ema hyper￭ activity preference for concrete thinking over abstract language difficulties and aversion to crowds the patho￭ genesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease the main method of diagnosis is through identification of facial phen￭ o￭ type since it was first described in 1965 by english physician victor du￭ bo￭ witz over 140 cases have been reported worldwide although the majority of cases have been reported from the united states germany and russia the disorder appears to affect both g￭ enders and all ethn￭ ic￭ ities equally
3 m syndrome
3 m syndrome alternative names dol￭ ic￭ hosp￭ on￭ dyl￭ ic dys￭ pl￭ asia gloomy face syndrome and le mer￭ r￭ er syndrome is a rare hereditary growth retar￭ dation syndrome the name 3 m originates from the initials of the three authors miller mc￭ k￭ us￭ ick and mal￭ v￭ aux who first reported the syndrome in literature major symptoms of 3 m syndrome are dwar￭ f￭ ism facial dys￭ mor￭ phia and sk￭ el￭ etal ab￭ norm￭ alities no signs of mental retar￭ dation are reported 3 m syndrome is thought to be inherited as an auto￭ som￭ al rec￭ essive genetic trait
l￭ anger mes￭ om￭ el￭ ic dys￭ pl￭ asia
l￭ anger mes￭ om￭ el￭ ic dys￭ pl￭ asia l￭ md is a rare con￭ genital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature
sec￭ kel syndrome
the sec￭ kel syndrome or micro￭ cephal￭ ic pri￭ mor￭ dial dwar￭ f￭ ism also known as bird headed dwar￭ f￭ ism harper s syndrome vir￭ chow sec￭ kel dwar￭ f￭ ism and bird headed dwarf of sec￭ kel is an extremely rare con￭ genital nano￭ som￭ ic disorder inheritance is auto￭ som￭ al rec￭ essive it is characterized by in￭ trau￭ ter￭ ine growth retar￭ dation and post￭ natal dwar￭ f￭ ism with a small head narrow bird like face with a be￭ ak like nose large eyes with down s￭ lan￭ ting pal￭ pe￭ br￭ al f￭ issu￭ res rec￭ eding man￭ di￭ ble and intellectual disability a mouse model has been developed
smith – lem￭ li – op￭ itz syndrome
smith – lem￭ li – op￭ itz syndrome also slo￭ s or 7 de￭ hydro￭ cho￭ le￭ sterol reduc￭ t￭ ase deficiency is an in￭ born error of cho￭ le￭ sterol synthesis it is an auto￭ som￭ al rec￭ essive multiple mal￭ formation syndrome caused by a mutation in the enzyme 7 de￭ hydro￭ cho￭ le￭ sterol reduc￭ t￭ ase or d￭ h￭ cr 7 it causes a broad spectrum of effects ranging from mild intellectual disability and behavi￭ our￭ al problems to lethal mal￭ formations
cock￭ ay￭ ne syndrome
cock￭ ay￭ ne syndrome cs also called neill d￭ ing￭ wall syndrome is a rare fatal auto￭ som￭ al rec￭ essive neuro￭ degenerative disorder characterized by growth failure impaired development of the nervous system abnormal sensitivity to sunlight photo￭ sensitivity eye disorders and premature aging failure to thrive and neuro￭ logical disorders are criteria for diagnosis while photo￭ sensitivity hearing loss eye ab￭ norm￭ alities and ca￭ vities are other very common features problems with any or all of the internal organs are possible it is associated with a group of disorders called leuko￭ dy￭ stro￭ ph￭ ies which are conditions characterized by degradation of neuro￭ logical white matter the underlying disorder is a defect in a dna repair mechanism unlike other defects of dna repair patients with cs are not pr
cock￭ ay￭ ne syndrome cs also called neill d￭ ing￭ wall syndrome is a rare fatal auto￭ som￭ al rec￭ essive neuro￭ degenerative disorder characterized by growth failure impaired development of the nervous system abnormal sensitivity to sunlight photo￭ sensitivity eye disorders and premature aging failure to thrive and neuro￭ logical disorders are criteria for diagnosis while photo￭ sensitivity hearing loss eye ab￭ norm￭ alities and ca￭ vities are other very common features problems with any or all of the internal organs are possible it is associated with a group of disorders called leuko￭ dy￭ stro￭ ph￭ ies which are conditions characterized by degradation of neuro￭ logical white matter the underlying disorder is a defect in a dna repair mechanism unlike other defects of dna repair patients with cs are not pre￭ disposed to cancer or infection cock￭ ay￭ ne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life the mutation of specific genes in cock￭ ay￭ ne syndrome is known but the widespread effects and its relationship with dna repair is yet to be well understood it is named after english physician edward alfred cock￭ ay￭ ne 18￭ 80 – 1956 who first described it in 1936 and re described in 1946 neill d￭ ing￭ wall syndrome was named after mary m d￭ ing￭ wall and catherine a neill these women described the case of two brothers with cock￭ ay￭ ne syndrome and asserted it was the same disease described by cock￭ ay￭ ne in their article the women contributed to the symptoms of the disease through their discovery of calci￭ fications in the brain they also compared cock￭ ay￭ ne syndrome to what is now known as hut￭ chin￭ son – gil￭ ford pro￭ geria syndrome h￭ gps then called pro￭ geria due to the advanced aging that characterizes both disorders
silver – russell syndrome
silver – russell dwar￭ f￭ ism also called silver – russell syndrome s￭ rs or russell – silver syndrome r￭ ss is a growth disorder occurring in approximately 1 50 000 to 1 100 000 births in the united states it is usually referred to as russell – silver syndrome and silver – russell syndrome elsewhere it is one of 200 types of dwar￭ f￭ ism and one of five types of pri￭ mor￭ dial dwar￭ f￭ ism and is one of the few forms that is considered treat￭ able in some cases there is no statistical significance of the syndrome occurring prefer￭ entially in either males or females
sjö￭ gre￭ n – lar￭ sson syndrome
sjö￭ gre￭ n – lar￭ sson syndrome s￭ ls is an auto￭ som￭ al rec￭ essive form of ich￭ thy￭ osis apparent at birth sjö￭ gre￭ n – lar￭ sson syndrome is a rare auto￭ som￭ al rec￭ essive neuro￭ cu￭ taneous disease this disease can be identified by a tri￭ ad of medical disorders the first is ich￭ thy￭ osis which is a buil￭ dup of skin to form a scale like covering that causes dry skin and other problems the second identi￭ fier is sp￭ astic par￭ ap￭ legi￭ a which is characterized by leg sp￭ as￭ ms the final identi￭ fier is intellectual delay the gene of s￭ ls is found on chro￭ mo￭ some 17 in order for a child to receive s￭ ls both parents must be carriers of the s￭ ls gene if they are carriers their child has a ¼ chance of getting the disease in 1957 s￭ jo￭ gre￭ n and lar￭ sson proposed that the swedes with the disease all descended from a common anc￭ est￭ or 600 ye￭ a
cor￭ ne￭ lia de lange syndrome
cor￭ ne￭ lia de lange syndrome cd￭ ls is a very rare genetic disorder present from birth but not always diagnosed at birth it causes a range of physical cognitive and medical challenges and affects both sexes equally the syndrome is named after dutch pedi￭ at￭ ric￭ ian cor￭ ne￭ lia cath￭ ar￭ ina de lange who described it it is often termed bu￭ shy syndrome and is also known as amsterdam dwar￭ f￭ ism it is a genetic disorder that can lead to severe developmental anomalies it affects the physical and intellectual development of a child exact incidence is unknown but it is estimated at 1 in 10 000 to 30 000
si￭ re￭ no￭ me￭ lia
si￭ re￭ no￭ me￭ lia alternatively known as mer￭ maid syndrome is a rare con￭ genital de￭ form￭ ity in which the legs are f￭ used together giving them the appearance of a mer￭ maid s tail this condition is found in approximately one out of every 100 000 live births about as rare as con￭ joined twins and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and ur￭ inary blad￭ der development and function more than half the cases of si￭ re￭ no￭ me￭ lia result in still￭ birth and this condition is 100 times more likely to occur in identical twins than in single births or frater￭ nal twins it results from a failure of normal vascular supply from the lower a￭ or￭ ta in uter￭ o maternal diabetes has been associated with c￭ aud￭ al regression syndrome and si￭ re￭ no￭ me￭ lia although a few sou
si￭ re￭ no￭ me￭ lia alternatively known as mer￭ maid syndrome is a rare con￭ genital de￭ form￭ ity in which the legs are f￭ used together giving them the appearance of a mer￭ maid s tail this condition is found in approximately one out of every 100 000 live births about as rare as con￭ joined twins and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and ur￭ inary blad￭ der development and function more than half the cases of si￭ re￭ no￭ me￭ lia result in still￭ birth and this condition is 100 times more likely to occur in identical twins than in single births or frater￭ nal twins it results from a failure of normal vascular supply from the lower a￭ or￭ ta in uter￭ o maternal diabetes has been associated with c￭ aud￭ al regression syndrome and si￭ re￭ no￭ me￭ lia although a few sources question this association vac￭ ter￭ l h is an expanded form of the vac￭ ter￭ l association that concludes that this diagnosis is a less severe form of si￭ re￭ no￭ me￭ lia the disorder was formerly thought to be an extreme case of c￭ aud￭ al regression syndrome however it was reclassi￭ fied to be considered a separate condition
hol￭ t – or￭ am syndrome
hol￭ t – or￭ am syndrome is an auto￭ som￭ al dominant disorder that affects bones in the arms and hands the upper limbs and may also cause heart problems the syndrome includes an absent rad￭ ial bone in the arms an atri￭ al sep￭ tal defect and a first degree heart block hol￭ t – or￭ am syndrome is considered to be a phen￭ o￭ copy of th￭ ali￭ dom￭ ide since both the genetic disorder and the ter￭ ato￭ genic effects have similar presentations in individuals
tar syndrome
vac￭ ter￭ l association
the vac￭ ter￭ l association also v￭ ater association refers to the non random co occurrence of birth defects vertebr￭ al anomalies anal at￭ re￭ sia cardiac defects trac￭ he￭ o￭ es￭ op￭ ha￭ ge￭ al f￭ ist￭ ula and or es￭ op￭ ha￭ ge￭ al at￭ re￭ sia ren￭ al rad￭ ial anomalies and limb defects the reason it is called an association rather than a syndrome is that while the complications are not patho￭ gen￭ ically related they tend to occur together more frequently than expected by chance in general the eti￭ ology of associations is not defined
the vac￭ ter￭ l association also v￭ ater association refers to the non random co occurrence of birth defects vertebr￭ al anomalies anal at￭ re￭ sia cardiac defects trac￭ he￭ o￭ es￭ op￭ ha￭ ge￭ al f￭ ist￭ ula and or es￭ op￭ ha￭ ge￭ al at￭ re￭ sia ren￭ al rad￭ ial anomalies and limb defects the reason it is called an association rather than a syndrome is that while the complications are not patho￭ gen￭ ically related they tend to occur together more frequently than expected by chance in general the eti￭ ology of associations is not defined each child with this condition can be unique at present this condition is treated after birth with issues being approached one at a time some infants are born with symptoms that cannot be fixed and they do not survive causes of this association are debated though it appears to be genetic according to certain studies also vac￭ ter￭ l association can be linked to other similar conditions such as k￭ lip￭ pel fe￭ il and gol￭ den￭ har syndrome including cros￭ so￭ vers of conditions no specific genetic or chro￭ mo￭ some problem has been identified with vac￭ ter￭ l association vac￭ ter￭ l can be seen with some chro￭ mo￭ som￭ al defects such as tr￭ is￭ omy 18 and is more frequently seen in babies of diabe￭ tic mothers vac￭ ter￭ l association however is most likely caused by multiple factors vac￭ ter￭ l association specifically refers to the ab￭ norm￭ alities in structures derived from the embryonic mes￭ o￭ der￭ m
rub￭ instein – ta￭ y￭ bi syndrome
rub￭ instein – ta￭ y￭ bi syndrome r￭ ts also known as broad thumb hall￭ ux syndrome or rub￭ instein syndrome is a condition characterized by short stature moderate to severe learning difficulties distinctive facial features and broad thum￭ bs and first toes other features of the disorder vary among affected individuals people with this condition have an increased risk of developing non￭ can￭ cer￭ ous and can￭ cer￭ ous tumors leuk￭ emia and lymp￭ homa this condition is sometimes inherited as an auto￭ som￭ al dominant pattern and is un￭ common many times it occurs as a de novo not inherited occurrence it occurs in an estimated 1 in 125 000 300 000 births
k￭ lip￭ pel – tr￭ é￭ na￭ un￭ ay syndrome
nail – pat￭ ella syndrome
nail – pat￭ ella syndrome n￭ ps also known as hood syndrome is a genetic disorder that results in small poorly developed nails and kne￭ ec￭ aps but can also affect many other areas of the body such as the el￭ bows chest and hips the name nail – pat￭ ella can be very misleading because the syndrome often affects many other areas of the body including even the production of certain proteins those affected by n￭ ps may have one or more affected areas of the body and its severity varies depending on the individual it is also referred to as ili￭ ac horn syndrome hereditary ony￭ choo￭ ste￭ odys￭ pl￭ asia hood syndrome f￭ ong disease or turner – ki￭ es￭ er syndrome
nail – pat￭ ella syndrome n￭ ps also known as hood syndrome is a genetic disorder that results in small poorly developed nails and kne￭ ec￭ aps but can also affect many other areas of the body such as the el￭ bows chest and hips the name nail – pat￭ ella can be very misleading because the syndrome often affects many other areas of the body including even the production of certain proteins those affected by n￭ ps may have one or more affected areas of the body and its severity varies depending on the individual it is also referred to as ili￭ ac horn syndrome hereditary ony￭ choo￭ ste￭ odys￭ pl￭ asia hood syndrome f￭ ong disease or turner – ki￭ es￭ er syndrome diagnosis of n￭ ps can be made at birth but is common for it to remain un￭ diagnosed for several generations while there is no cure available for n￭ ps treatment is available and recommended
bec￭ k￭ with – wi￭ e￭ deman￭ n syndrome
bec￭ k￭ with – wi￭ e￭ deman￭ n syndrome ˈ￭ b￭ ɛ￭ k￭ ˌ￭ w￭ ɪ￭ θ ˈ￭ vi￭ ː￭ d￭ ə m￭ ə￭ n abbreviated b￭ ws is an over￭ growth disorder usually present at birth characterized by an increased risk of childhood cancer and certain con￭ genital features bec￭ k￭ with syndrome can also cause child behavior problems common features used to define b￭ ws are macro￭ glos￭ sia large tongue macro￭ som￭ ia above average birth weight and length mid￭ line ab￭ domin￭ al wall defects om￭ p￭ hal￭ oce￭ le ex￭ om￭ p￭ hal￭ os um￭ bil￭ ical her￭ nia di￭ ast￭ asis rec￭ ti ear cre￭ ases or ear pits ne￭ on￭ atal hypo￭ gly￭ cem￭ ia low blood sugar after birth he￭ pat￭ obl￭ ast￭ oma
so￭ tos syndrome
so￭ tos syndrome cere￭ br￭ al gig￭ anti￭ sm or so￭ tos dodge syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life excessive growth often starts in infancy and continues into the early teen years the disorder may be accompanied by au￭ tism mild intellectual disability delayed motor cognitive and social development hy￭ pot￭ onia low muscle tone and speech impair￭ ments children with so￭ tos syndrome tend to be large at birth and are often taller heavier and have relatively large skul￭ ls macro￭ cephal￭ y than is normal for their age signs of the disorder which vary among individuals include a disproportionately large skull with a slightly pro￭ tru￭ sive fore￭ head large hands and feet large man￭ di￭ ble hyper￭ tel￭ or￭ ism an abnormally increased distance
simpson – gol￭ ab￭ i – beh￭ mel syndrome
simpson – gol￭ ab￭ i – beh￭ mel syndrome sg￭ bs also called bull￭ dog syndrome sara agers syndrome gol￭ ab￭ i – ro￭ sen syndrome simpson dys￭ mor￭ phia syndrome s￭ d￭ ys or x linked dys￭ pl￭ asia gig￭ anti￭ sm syndrome d￭ gs￭ x is a rare inherited con￭ genital disorder that can cause cran￭ io￭ facial sk￭ el￭ etal cardiac and ren￭ al ab￭ norm￭ alities the syndrome is inherited in an x linked rec￭ essive fashion where males express the phen￭ o￭ type and females usually do not females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phen￭ o￭ type
simpson – gol￭ ab￭ i – beh￭ mel syndrome sg￭ bs also called bull￭ dog syndrome sara agers syndrome gol￭ ab￭ i – ro￭ sen syndrome simpson dys￭ mor￭ phia syndrome s￭ d￭ ys or x linked dys￭ pl￭ asia gig￭ anti￭ sm syndrome d￭ gs￭ x is a rare inherited con￭ genital disorder that can cause cran￭ io￭ facial sk￭ el￭ etal cardiac and ren￭ al ab￭ norm￭ alities the syndrome is inherited in an x linked rec￭ essive fashion where males express the phen￭ o￭ type and females usually do not females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phen￭ o￭ type there are two types of sg￭ bs each found on a different gene sg￭ bs is also considered to be an over￭ growth syndrome o￭ gs o￭ gs is characterized by a 2 3 standard deviation increase in weight height or head circum￭ fer￭ ence above the average for sex and age one of the most noted features of o￭ gs is the increased risk of ne￭ op￭ las￭ ms in certain og￭ ss sg￭ bs in particular has been found to have a 10 tumor pre￭ disposition frequency with 94 of cases occurring in the ab￭ domin￭ al region most being m￭ align￭ ant it is common for tumors to be embry￭ onal in type and appear before the age of 10 there are five different types of tumors that patients with sg￭ bs might develop all intra ab￭ domin￭ al wil￭ ms tumor he￭ pat￭ obl￭ ast￭ oma he￭ pat￭ o￭ carcin￭ oma gon￭ ad￭ obl￭ ast￭ oma and neuro￭ bl￭ ast￭ oma the most common types of tumors developed in patients are the wil￭ ms tumor and he￭ pat￭ obl￭ ast￭ oma
wea￭ ver syndrome
mar￭ fan syndrome
mar￭ fan syndrome m￭ fs is a genetic disorder of connec￭ tive tissue the degree to which people are affected varies people with mar￭ fan s tend to be tall and thin with long arms legs fingers and toes they also typically have flexible joints and sco￭ li￭ osis the most serious complications involve the heart and a￭ or￭ ta with an increased risk of mit￭ ral valve pro￭ lapse and a￭ or￭ tic an￭ eur￭ ys￭ m other commonly affected areas include the lungs eyes bones and the covering of the spinal cord
ar￭ ach￭ no￭ d￭ ac￭ ty￭ ly
cardi￭ o￭ fac￭ io￭ cu￭ taneous syndrome
cardi￭ o￭ fac￭ io￭ cu￭ taneous syndrome cf￭ c is an extremely rare and serious genetic disorder it is characterized by the following distinctive facial appearance unusually spar￭ se brit￭ tle cur￭ ly scal￭ p hair a range of skin ab￭ norm￭ alities from der￭ mati￭ tis to thick scal￭ y skin over the entire body generalized ich￭ thy￭ osis heart mal￭ formations con￭ genital or appearing later especially an obstruction of the normal flow of blood from the lower right ven￭ tric￭ le of the heart to the lungs val￭ var pul￭ mon￭ ary sten￭ osis delayed growth foot ab￭ norm￭ alities extra toe or fusion of two or more toes
coffin – low￭ ry syndrome
coffin – low￭ ry syndrome is a genetic disorder that is x linked dominant and which causes severe mental problems sometimes associated with ab￭ norm￭ alities of growth cardiac ab￭ norm￭ alities ky￭ pho￭ sco￭ li￭ osis as well as aud￭ itory and visual ab￭ norm￭ alities
n￭ eu lax￭ ova syndrome
n￭ eu – lax￭ ova syndrome also known as n￭ eu syndrome or n￭ eu po￭ vy￭ si￭ lov￭ á syndrome abbreviated as n￭ ls is a rare auto￭ som￭ al rec￭ essive disorder characterized by severe in￭ trau￭ ter￭ ine growth restriction and multiple con￭ genital mal￭ formations n￭ eu – lax￭ ova syndrome is a very severe disorder leading to still￭ birth or ne￭ on￭ atal death it was first described by dr richard n￭ eu in 1971 and dr ren￭ ata lax￭ ova in 1972 as a lethal disorder in si￭ bl￭ ings with multiple mal￭ formations n￭ eu – lax￭ ova syndrome is an extremely rare disorder with less than 100 cases reported in medical literature
al￭ ström syndrome
al￭ ström syndrome also called al￭ stro￭ m hal￭ gre￭ n syndrome is a rare genetic disorder caused by mutations in the gene al￭ ms 1 it is among the ra￭ rest genetic disorders in the world as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries it was first described by carl henry al￭ ström in sweden in 1959 al￭ stro￭ m syndrome is sometimes confused with bar￭ det bi￭ ed￭ l syndrome which has similar symptoms bar￭ det bi￭ ed￭ l syndrome tends to have later onset in its symptoms the likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25 with each pregnancy the likelihood of having a child who is only a carrier of the gene is 50 with each pregnancy the likelihood of a child receiving normal genes from
al￭ ström syndrome also called al￭ stro￭ m hal￭ gre￭ n syndrome is a rare genetic disorder caused by mutations in the gene al￭ ms 1 it is among the ra￭ rest genetic disorders in the world as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries it was first described by carl henry al￭ ström in sweden in 1959 al￭ stro￭ m syndrome is sometimes confused with bar￭ det bi￭ ed￭ l syndrome which has similar symptoms bar￭ det bi￭ ed￭ l syndrome tends to have later onset in its symptoms the likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25 with each pregnancy the likelihood of having a child who is only a carrier of the gene is 50 with each pregnancy the likelihood of a child receiving normal genes from both parents and being considered to be genetically normal is 25 the risk for carrying the gene is equivalent for both males and females according to a 2007 article by joy et al published in the orphan￭ et journal of rare diseases al￭ ström syndrome as is a rare auto￭ som￭ al rec￭ essive disease characterized by multi￭ organ dysfunction the key features are childhood obesity blindness due to con￭ genital re￭ tin￭ al dy￭ stro￭ phy and sens￭ or￭ in￭ eur￭ al hearing loss associated endocr￭ ino￭ logic features include hyper￭ insul￭ in￭ emia early onset type 2 diabetes and hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia thus as shares several features with the common metabol￭ ic syndrome namely obesity hyper￭ insul￭ in￭ emia and hyper￭ tri￭ gly￭ cer￭ i￭ dem￭ ia mutations in the al￭ ms 1 gene have been found to be caus￭ ative for as with a total of 79 disease causing mutations having been described prevalence estimates have rang￭ ed from 1 in 10 000 to fewer than 1 in 1 000 000 individuals in the general population
door syndrome
door deaf￭ ness ony￭ ch￭ dy￭ stro￭ phy o￭ ste￭ od￭ y￭ stro￭ phy and mental retar￭ dation syndrome is a genetic disease which is inherited in an auto￭ som￭ al rec￭ essive fashion door syndrome is characterized by mental retar￭ dation sens￭ or￭ in￭ eur￭ al deaf￭ ness abnormal nails and p￭ hal￭ anges of the hands and feet and variable seizures a similar deaf￭ ness ony￭ cho￭ dy￭ stro￭ phy syndrome is transmitted as an auto￭ som￭ al dominant trait and has no mental retar￭ dation some authors have proposed that it may be the same as er￭ on￭ en syndrome but since both disorders are extremely rare it is hard to make a determination
charge syndrome
al￭ port syndrome
al￭ port syndrome is a genetic disorder affecting around 1 in 50 000 children characterized by glo￭ mer￭ ul￭ on￭ eph￭ ri￭ tis end stage kidney disease and hearing loss al￭ port syndrome can also affect the eyes though the changes do not usually affect sight except when changes to the lens occur in later life blood in urine is universal prote￭ in￭ ur￭ ia is a feature as kidney disease progres￭ ses
y￭ un￭ is – var￭ on syndrome
y￭ un￭ is – var￭ on syndrome y￭ vs also called cle￭ ido￭ cran￭ ial dys￭ pl￭ asia with micro￭ gn￭ ath￭ ia absent thum￭ bs and dis￭ tal ap￭ hal￭ an￭ gia is an extremely rare auto￭ som￭ al rec￭ essive multi￭ system con￭ genital disorder which affects the sk￭ el￭ etal system ec￭ to￭ der￭ mal tissue heart and respiratory system
stic￭ kler syndrome
stic￭ kler syndrome hereditary progressive arth￭ ro oph￭ thal￭ mop￭ athy is a group of genetic disorders affecting connec￭ tive tissue specifically coll￭ agen stic￭ kler syndrome is a subtype of coll￭ agen￭ opathy types ii and xi stic￭ kler syndrome is characterized by distinctive facial ab￭ norm￭ alities oc￭ ular problems hearing loss and joint problems it was first studied and characterized by gun￭ nar b stic￭ kler in 1965
town￭ es – bro￭ c￭ ks syndrome
town￭ es – bro￭ c￭ ks syndrome t￭ bs is a rare genetic disease that has been described in approximately 200 cases in the published literature it affects both males and females equally the condition was first identified in 1972 by philip l town￭ es md ph￭ d who was at the time a human gene￭ tic￭ ists and professor of pedi￭ at￭ rics and eric bro￭ c￭ ks md who was at the time a medical student both at the university of ro￭ chester
bar￭ det – bi￭ ed￭ l syndrome
bar￭ det – bi￭ ed￭ l syndrome bbs is a ci￭ li￭ opathic human genetic disorder that produces many effects and affects many body systems it is characterized principally by obesity ret￭ initi￭ s pi￭ gm￭ ent￭ osa poly￭ d￭ ac￭ ty￭ ly hypo￭ gon￭ ad￭ ism and ren￭ al failure in some cases historically slower mental processing has also been considered a principal symptom but is now not regarded as such
z￭ ell￭ we￭ ger syndrome
z￭ ell￭ we￭ ger syndrome also called cere￭ bro￭ he￭ pat￭ o￭ ren￭ al syndrome is a rare con￭ genital disorder characterized by the reduction or absence of functional per￭ ox￭ isom￭ es in the cells of an individual it is one of a family of disorders called leuko￭ dy￭ stro￭ ph￭ ies z￭ ell￭ we￭ ger syndrome is named after hans z￭ ell￭ we￭ ger 19￭ 09 – 1990 a swiss american pedi￭ at￭ ric￭ ian a professor of pedi￭ at￭ rics and genetics at the university of iowa who researched this disorder
accessory sp￭ leen
an accessory sp￭ leen super￭ numer￭ ary sp￭ leen splen￭ ule or splen￭ un￭ cul￭ us is a small no￭ dule of splen￭ ic tissue found apart from the main body of the sp￭ leen accessory sp￭ le￭ ens are found in approximately 10 percent of the population and are typically around 1 centi￭ meter in diameter they may resemble a lymp￭ h no￭ de or a small sp￭ leen they form either by the result of developmental anomalies or trauma they are medic￭ ally significant in that they may result in interpretation errors in diagnostic imaging or continued symptoms after therapeutic splen￭ ec￭ tomy
splen￭ om￭ eg￭ al￭ y
splen￭ om￭ eg￭ al￭ y is an enlargement of the sp￭ leen the sp￭ leen usually lies in the left upper quad￭ rant lu￭ q of the human ab￭ dom￭ en splen￭ om￭ eg￭ al￭ y is one of the four cardinal signs of hy￭ pers￭ plen￭ ism which include some reduction in the number of circulating blood cells affecting gran￭ ul￭ oc￭ y￭ tes er￭ y￭ thro￭ cy￭ tes or plat￭ el￭ ets in any combination a compensatory prolifer￭ ative response in the bone marrow and the potential for correction of these ab￭ norm￭ alities by splen￭ ec￭ tomy splen￭ om￭ eg￭ al￭ y is usually associated with increased workload such as in hem￭ ol￭ y￭ tic an￭ emi￭ as which suggests that it is a response to hyper￭ function it is therefore not surprising that splen￭ om￭ eg￭ al￭ y is associated with any disease process that involves abnormal red blood cells being destroyed in the sp￭ leen other common causes include cong￭ esti
splen￭ om￭ eg￭ al￭ y is an enlargement of the sp￭ leen the sp￭ leen usually lies in the left upper quad￭ rant lu￭ q of the human ab￭ dom￭ en splen￭ om￭ eg￭ al￭ y is one of the four cardinal signs of hy￭ pers￭ plen￭ ism which include some reduction in the number of circulating blood cells affecting gran￭ ul￭ oc￭ y￭ tes er￭ y￭ thro￭ cy￭ tes or plat￭ el￭ ets in any combination a compensatory prolifer￭ ative response in the bone marrow and the potential for correction of these ab￭ norm￭ alities by splen￭ ec￭ tomy splen￭ om￭ eg￭ al￭ y is usually associated with increased workload such as in hem￭ ol￭ y￭ tic an￭ emi￭ as which suggests that it is a response to hyper￭ function it is therefore not surprising that splen￭ om￭ eg￭ al￭ y is associated with any disease process that involves abnormal red blood cells being destroyed in the sp￭ leen other common causes include congestion due to portal hyper￭ tension and infiltr￭ ation by leuk￭ emi￭ as and lymp￭ hom￭ as thus the finding of an enlarged sp￭ leen along with cap￭ ut med￭ usa is an important sign of portal hyper￭ tension
thy￭ rog￭ los￭ sal cyst
a thy￭ rog￭ los￭ sal cyst is a fi￭ bro￭ us cyst that forms from a persistent thy￭ rog￭ los￭ sal duc￭ t thy￭ rog￭ los￭ sal cy￭ sts can be defined as an irregular neck mass or a lump which had developed from cells and tissues left over after the formation of the thyro￭ id g￭ land during developmental stages thy￭ rog￭ los￭ sal cy￭ sts are the most common cause of mid￭ line neck masses and are generally located sub￭ standard to the hy￭ o￭ id bone yet these neck masses can occur anywhere along the path of the thyro￭ id g￭ land from the base of the tongue to the supr￭ aster￭ nal not￭ ch
sit￭ us in￭ versus
sit￭ us in￭ versus also called sit￭ us trans￭ versus or op￭ pos￭ it￭ us is a con￭ genital condition in which the major vis￭ cer￭ al organs are reversed or mir￭ ro￭ red from their normal positions the normal arrangement of internal organs is known as sit￭ us sol￭ it￭ us while sit￭ us in￭ versus is generally the mirror image of sit￭ us sol￭ it￭ us although cardiac problems are more common than in the general population most people with sit￭ us in￭ versus have no medical symptoms or complications resulting from the condition and until the advent of modern medicine it was usually un￭ diagnosed
c￭ aud￭ al regression syndrome
c￭ aud￭ al regression syndrome or sac￭ ral agen￭ esis or hypo￭ pl￭ asia of the sac￭ rum is a con￭ genital disorder in which there is abnormal fe￭ tal development of the lower sp￭ ine — the c￭ aud￭ al partition of the sp￭ ine it occurs at a rate of approximately one per 25 000 live births
down syndrome
down syndrome ds or d￭ ns also known as tr￭ is￭ omy 21 is a genetic disorder caused by the presence of all or part of a third copy of chro￭ mo￭ some 21 it is typically associated with physical growth delays characteristic facial features and mild to moderate intellectual disability the average i￭ q of a young adult with down syndrome is 50 equivalent to the mental age of an 8 or 9 year old child but this can vary widely
down syndrome ds or d￭ ns also known as tr￭ is￭ omy 21 is a genetic disorder caused by the presence of all or part of a third copy of chro￭ mo￭ some 21 it is typically associated with physical growth delays characteristic facial features and mild to moderate intellectual disability the average i￭ q of a young adult with down syndrome is 50 equivalent to the mental age of an 8 or 9 year old child but this can vary widely the parents of the affected individual are typically genetically normal the extra chro￭ mo￭ some occurs by random chance the risk increases from less than 0 1 in 20 year old mothers to 3 in those age 45 there is no known behavioral activity or environmental factor that changes the risk down syndrome can be identified during pregnancy by pre￭ natal screening followed by diagnostic testing or after birth by direct observation and genetic testing since the introduction of screening pregnancies with the diagnosis are often terminated regular screening for health problems common in down syndrome is recommended throughout the person s life there is no cure for down syndrome education and proper care have been shown to improve quality of life some children with down syndrome are educated in typical school classes while others require more specialized education some individuals with down syndrome graduate from high school and a few attend post secondary education in adul￭ thood about 20 in the united states do paid work in some capacity with many requiring a sheltered work environment support in financial and legal matters is often needed life expectancy is around 50 to 60 years in the developed world with proper health care down syndrome is one of the most common chro￭ mo￭ some ab￭ norm￭ alities in humans it occurs in about one per 1000 babies born each year in 2013 down syndrome was present in 8 5 million individuals and resulted in 36 000 deaths down from 43 000 deaths in 1990 it is named after john lang￭ don down the british doctor who fully described the syndrome in 18￭ 66 some aspects of the condition were described earlier by jean é￭ ti￭ enne dominique es￭ qui￭ rol in 18￭ 38 and é￭ dou￭ ard sé￭ guin in 18￭ 44 the genetic cause of down syndrome — an extra copy of chro￭ mo￭ some 21 — was identified by french researchers in 1959
tr￭ is￭ omy
a tr￭ is￭ omy is a type of poly￭ som￭ y in which there are three instances of a particular chro￭ mo￭ some instead of the normal two a tr￭ is￭ omy is a type of an￭ eu￭ plo￭ id￭ y an abnormal number of chro￭ mo￭ som￭ es
an￭ eu￭ plo￭ id￭ y
an￭ eu￭ plo￭ id￭ y is the presence of an abnormal number of chro￭ mo￭ som￭ es in a cell for example a human cell having 45 or 47 chro￭ mo￭ som￭ es instead of the usual 46 it does not include a difference of one or more complete sets of chro￭ mo￭ som￭ es which is called eu￭ plo￭ id￭ y an extra or missing chro￭ mo￭ some is a common cause of genetic disorders including some human birth defects some cancer cells also have abnormal numbers of chro￭ mo￭ som￭ es an￭ eu￭ plo￭ id￭ y originates during cell division when the chro￭ mo￭ som￭ es do not separate properly between the two cells
ed￭ wards syndrome
ed￭ wards syndrome also known as tr￭ is￭ omy 18 is a genetic disorder caused by the presence of all or part of a third copy of chro￭ mo￭ some 18 many parts of the body are affected babies are often born small and have heart defects other features include a small head small jaw cl￭ en￭ ched f￭ ists with overlapping fingers and severe intellectual disability treatment is supportive after having one child with the condition the risk of having a second is typically around one percent it is the second most frequent condition due to a third chro￭ mo￭ some at birth after down syndrome
pat￭ au syndrome
pat￭ au syndrome is a syndrome caused by a chro￭ mo￭ som￭ al ab￭ normality in which some or all of the cells of the body contain extra genetic material from chro￭ mo￭ some 13 the extra genetic material disrup￭ ts normal development causing multiple and complex organ defects like all non￭ dis￭ junction conditions such as down syndrome and ed￭ wards syndrome the risk of this syndrome in the offspring increases with maternal age at pregnancy with about 31 years being the average pat￭ au syndrome affects somewhere between 1 in 10 000 and 1 in 21 700 live births
tr￭ is￭ omy 9
full tr￭ is￭ omy 9 is a lethal chro￭ mo￭ som￭ al disorder caused by having three copies tr￭ is￭ omy of chro￭ mo￭ some number 9 it can be a viable condition if tr￭ is￭ omy affects only part of the cells of the body mo￭ sa￭ ic￭ ism or in cases of partial tr￭ is￭ omy tr￭ is￭ omy 9 p in which cells have a normal set of two entire chro￭ mo￭ som￭ es 9 plus part of a third copy usually of the short arm of the chro￭ mo￭ some arm p
tr￭ is￭ omy 8
tri￭ plo￭ id syndrome
tri￭ plo￭ id syndrome also called tri￭ plo￭ id￭ y is an extremely rare chro￭ mo￭ som￭ al disorder in which a fe￭ tus has three copies of every chro￭ mo￭ some instead of the normal two if this occurs in only some cells it is called mo￭ saic tri￭ plo￭ id￭ y and is less severe
22 q 13 deletion syndrome
22 q 13 deletion syndrome spoken as twenty two q one three is a genetic disorder caused by dele￭ tions or re￭ arrangements on the q terminal end long arm of chro￭ mo￭ some 22 any abnormal genetic variation in the q 13 region that presents with significant manifestations phen￭ o￭ type typical of a terminal deletion should be diagnosed as 22 q 13 deletion syndrome 22 q 13 deletion syndrome is often placed in the more general category of p￭ hel￭ an mc￭ der￭ mid syndrome abbreviated p￭ ms which includes some mutations and micro￭ dele￭ tions the p￭ ms name is less precise since there is disagreement among researchers as to which variants belong in the p￭ ms category the developmental syn￭ ap￭ top￭ ath￭ ies consortium defines p￭ ms as being caused by sh￭ ank 3 mutations a definition that excludes terminal dele￭ tions this latter d
22 q 13 deletion syndrome spoken as twenty two q one three is a genetic disorder caused by dele￭ tions or re￭ arrangements on the q terminal end long arm of chro￭ mo￭ some 22 any abnormal genetic variation in the q 13 region that presents with significant manifestations phen￭ o￭ type typical of a terminal deletion should be diagnosed as 22 q 13 deletion syndrome 22 q 13 deletion syndrome is often placed in the more general category of p￭ hel￭ an mc￭ der￭ mid syndrome abbreviated p￭ ms which includes some mutations and micro￭ dele￭ tions the p￭ ms name is less precise since there is disagreement among researchers as to which variants belong in the p￭ ms category the developmental syn￭ ap￭ top￭ ath￭ ies consortium defines p￭ ms as being caused by sh￭ ank 3 mutations a definition that excludes terminal dele￭ tions this latter definition of p￭ ms is incompatible with the definition of 22 q 13 deletion syndrome by those who first described 22 q 13 deletion syndrome a proto￭ typical terminal deletion of 22 q 13 can be uncovered by kar￭ yo￭ type analysis but many terminal and inter￭ sti￭ tial dele￭ tions are too small the availability of dna micro￭ array technology for revealing multiple genetic problems simultaneously has been the diagnostic tool of choice the falling cost for whole ex￭ ome sequ￭ encing and eventually whole genome sequ￭ encing may replace dna micro￭ array technology for candidate evaluation however fluores￭ cence in situ hybri￭ di￭ zation fish tests remain valuable for diagno￭ sing cases of mo￭ sa￭ ic￭ ism mo￭ saic genetics and chro￭ mo￭ som￭ al re￭ arrangements e g ring chro￭ mo￭ some unbalanced chro￭ mo￭ som￭ al trans￭ location although early researchers sought a mono￭ genic single gene genetic disorder explanation recent studies have not supported that hypothesis see eti￭ ology below
wolf – hir￭ sch￭ horn syndrome
cr￭ i du chat
cr￭ i du chat syndrome also known as chro￭ mo￭ some 5 p deletion syndrome 5 p − said minus syndrome or le￭ je￭ une ’ s syndrome is a rare genetic disorder due to a missing part deletion of chro￭ mo￭ some 5 its name is a french term cat cry or call of the cat referring to the characteristic cat like cry of affected children it was first described by j￭ ér￭ ô￭ me le￭ je￭ une in 1963 the condition affects an estimated 1 in 50 000 live births across all ethn￭ ic￭ ities and is more common in females by a 4 3 ratio
1 q 21 1 deletion syndrome
1 q 21 1 deletion syndrome or 1 q 21 1 recurrent micro￭ deletion is a rare aberr￭ ation of chro￭ mo￭ some 1 a human cell has one pair of identical chro￭ mo￭ som￭ es on chro￭ mo￭ some 1 with the 1 q 21 1 deletion syndrome one chro￭ mo￭ some of the pair is not complete because a part of the sequence of the chro￭ mo￭ some is missing one chro￭ mo￭ some has the normal length and the other is too short in 1 q 21 1 the 1 stands for chro￭ mo￭ some 1 the q stands for the long arm of the chro￭ mo￭ some and 21 1 stands for the part of the long arm in which the deletion is situated
1 q 21 1 deletion syndrome or 1 q 21 1 recurrent micro￭ deletion is a rare aberr￭ ation of chro￭ mo￭ some 1 a human cell has one pair of identical chro￭ mo￭ som￭ es on chro￭ mo￭ some 1 with the 1 q 21 1 deletion syndrome one chro￭ mo￭ some of the pair is not complete because a part of the sequence of the chro￭ mo￭ some is missing one chro￭ mo￭ some has the normal length and the other is too short in 1 q 21 1 the 1 stands for chro￭ mo￭ some 1 the q stands for the long arm of the chro￭ mo￭ some and 21 1 stands for the part of the long arm in which the deletion is situated the syndrome is a form of the 1 q 21 1 copy number variations and it is a deletion in the dis￭ tal area of the 1 q 21 1 part the c￭ nv leads to a very variable phen￭ o￭ type and the manifestations in individuals are quite variable some people who have the syndrome can function in a normal way while others have symptoms of mental retar￭ dation and various physical anomalies 1 q 21 1 micro￭ deletion is a very rare chro￭ mo￭ som￭ al condition only 46 individuals with this deletion have been reported in medical literature as of august 2011
angel￭ man syndrome
angel￭ man syndrome as is a neuro￭ developmental disorder characterized by severe intellectual and developmental disability sleep disturbance seizures jer￭ ky movements especially hand fl￭ apping frequent laughter or smiling and usually a happy deme￭ anor
smith – mag￭ en￭ is syndrome
smith – mag￭ en￭ is syndrome s￭ ms is a developmental disorder affecting the body and brain features include intellectual disability facial features such as a broad face difficulty sleeping and numerous behavioral problems smith – mag￭ en￭ is syndrome affects an estimated 1 in 25 000 individuals it is a micro￭ deletion syndrome characterized by an ab￭ normality in the short p arm of chro￭ mo￭ some 17 and is sometimes called the 17 p syndrome
williams syndrome
williams syndrome ws also known as williams – be￭ u￭ ren syndrome w￭ bs is a rare neuro￭ developmental disorder characterized by a distinctive el￭ fin facial appearance along with a low nas￭ al bridge an unusually cheer￭ ful deme￭ anor and ease with strangers developmental delay coupled with language deficiencies profound vis￭ u￭ o spatial impair￭ ments and cardiovascular problems such as supr￭ av￭ al￭ vul￭ ar a￭ or￭ tic sten￭ osis and transi￭ ent high blood calcium
turner syndrome
turner syndrome ts also known as 45 x is a condition in which a female is partly or completely missing an x chro￭ mo￭ some signs and symptoms vary among those affected often a short and web￭ bed neck low set ears low hair￭ line at the back of the neck short stature and sw￭ oll￭ en hands and feet are seen at birth typically they are without men￭ str￭ ual periods do not develop breasts and are unable to have children heart defects diabetes and low thyro￭ id hormone occur more frequently most people with ts have normal intelligence many however have troubles with spatial vis￭ u￭ alization such as that needed for mathematics vision and hearing problems occur more often
turner syndrome ts also known as 45 x is a condition in which a female is partly or completely missing an x chro￭ mo￭ some signs and symptoms vary among those affected often a short and web￭ bed neck low set ears low hair￭ line at the back of the neck short stature and sw￭ oll￭ en hands and feet are seen at birth typically they are without men￭ str￭ ual periods do not develop breasts and are unable to have children heart defects diabetes and low thyro￭ id hormone occur more frequently most people with ts have normal intelligence many however have troubles with spatial vis￭ u￭ alization such as that needed for mathematics vision and hearing problems occur more often turner syndrome is not usually inherited from a person s parents no environmental risks are known and the mother s age does not play a role turner syndrome is due to a chro￭ mo￭ som￭ al ab￭ normality in which all or part of one of the x chro￭ mo￭ som￭ es is missing or altered while most people have 46 chro￭ mo￭ som￭ es people with ts usually have 45 the chro￭ mo￭ som￭ al ab￭ normality may be present in just some cells in which case it is known as ts with mo￭ sa￭ ic￭ ism in these cases the symptoms are usually fewer and possibly none occur at all diagnosis is based on physical signs and genetic testing no cure for turner syndrome is known treatment however may help with symptoms human growth hormone injections during childhood may increase adult height estro￭ gen replacement therapy can promote development of the breasts and hips medical care is often required to manage other health problems with which ts is associated turner syndrome occurs in between one in 2000 and one in 5000 females at birth all regions of the world and cultures are affected about equally generally people with ts have a shorter life expectancy mostly due to heart problems and diabetes henry turner first described the condition in 1938 in 1964 it was determined to be due to a chro￭ mo￭ som￭ al ab￭ normality
triple x syndrome
triple x syndrome also known as tr￭ is￭ omy x and 47 xxx is characterized by the presence of an extra x chro￭ mo￭ some in each cell of a female those affected are often taller than average usually there is no other physical differences and normal fertility occasionally there are learning difficulties decreased muscle tone seizures or kidney problems
k￭ lin￭ ef￭ el￭ ter syndrome
k￭ lin￭ ef￭ el￭ ter syndrome ks also known as 47 xx￭ y or xx￭ y is the set of symptoms that result from two or more x chro￭ mo￭ som￭ es in males the primary feature is ster￭ ility often symptoms may be subtle and many people do not realize they are affected sometimes symptoms are more prominent and may include weaker muscles greater height poor coordination less body hair smaller gen￭ itals breast growth and less interest in sex often it is only at pu￭ ber￭ ty that these symptoms are noticed intelligence is usually normal however reading difficulties and problems with speech are more common symptoms are typically more severe if three or more x chro￭ mo￭ som￭ es are present
xy￭ y syndrome
xy￭ y syndrome is a genetic condition in which a human male has an extra male y chro￭ mo￭ some giving a total of 47 chro￭ mo￭ som￭ es instead of the more usual 46 this produces a 47 xy￭ y kar￭ yo￭ type which occurs every 1 in 1 000 male births some medical gene￭ tic￭ ists question whether the term syndrome is appropriate for this condition because its clinical phen￭ o￭ type is normal and the vast majority of xy￭ y males do not know their kar￭ yo￭ type
gon￭ ad￭ al dys￭ genesis
gon￭ ad￭ al dys￭ genesis is any con￭ genital developmental disorder of the reproductive system characterized by a progressive loss of germ cells on the developing gon￭ ads of an embryo this loss leads to extremely hypo￭ plastic underdeveloped and dys￭ functioning gon￭ ads mainly composed of fi￭ bro￭ us tissue hence the name stre￭ ak gon￭ ads — i e a form of ap￭ la￭ sia in which the o￭ vary is replaced by func￭ tion￭ less tissue the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex resulting in a sexually inf￭ anti￭ le female appearance and in￭ fertility
gon￭ ad￭ al dys￭ genesis is any con￭ genital developmental disorder of the reproductive system characterized by a progressive loss of germ cells on the developing gon￭ ads of an embryo this loss leads to extremely hypo￭ plastic underdeveloped and dys￭ functioning gon￭ ads mainly composed of fi￭ bro￭ us tissue hence the name stre￭ ak gon￭ ads — i e a form of ap￭ la￭ sia in which the o￭ vary is replaced by func￭ tion￭ less tissue the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex resulting in a sexually inf￭ anti￭ le female appearance and in￭ fertility the first type of gon￭ ad￭ al dys￭ genesis discovered was turner syndrome
fragile x syndrome
fragile x syndrome f￭ xs is a genetic disorder symptoms often include mild to moderate intellectual disability physical features may include a long and narrow face large ears flexible fingers and large tes￭ tic￭ les about a third of people have features of au￭ tism such as problems with social interactions and delayed speech hyper￭ activity is common and seizures occur in about 10 males are usually more affected than females
fragile x syndrome f￭ xs is a genetic disorder symptoms often include mild to moderate intellectual disability physical features may include a long and narrow face large ears flexible fingers and large tes￭ tic￭ les about a third of people have features of au￭ tism such as problems with social interactions and delayed speech hyper￭ activity is common and seizures occur in about 10 males are usually more affected than females fragile x syndrome is typically due to the expansion of the c￭ gg tri￭ p￭ let repeat within the fragile x mental retar￭ dation 1 f￭ mr 1 gene on the x chro￭ mo￭ some this results in a failure to express the fragile x mental retar￭ dation protein f￭ mr￭ p which is required for normal ne￭ ural development depending on the length of the c￭ gg repeat an alle￭ le may be classified as normal unaffected by the syndrome a pre￭ mutation at risk of fragile x associated disorders or full mutation usually affected by the syndrome a diagnosis of fragile x syndrome is made through genetic testing to determine the number of c￭ gg repeats testing for pre￭ mutation carriers may allow for genetic counsel￭ ing there is no medication that has a benefit specifically for fragile x syndrome medications are commonly used to treat symptoms of attention deficit and hyper￭ activity anxiety and aggression supportive management is important in optimi￭ zing functioning in individuals with fragile x syndrome and may involve speech therapy occupational therapy and individu￭ alized educational and behavioral programs fragile x syndrome occurs in about 1 in 4 000 males and 1 in 8 000 females the first complete dna sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using sm￭ rt sequ￭ encing
pal￭ lis￭ ter – kil￭ lian syndrome
pal￭ lis￭ ter – kil￭ lian syndrome also te￭ tras￭ omy 12 p mo￭ sa￭ ic￭ ism or pal￭ lis￭ ter mo￭ saic an￭ eu￭ plo￭ id￭ y syndrome is an extremely rare genetic disorder occurring in humans pal￭ lis￭ ter kil￭ lian occurs due to the presence of the anom￭ alous extra iso￭ chro￭ mo￭ some 12 p the short arm of the twelfth chro￭ mo￭ some this leads to the development of te￭ tras￭ omy 12 p because not all cells have the extra iso￭ chro￭ mo￭ some pal￭ lis￭ ter kil￭ lian is a mo￭ saic condition more readily detected in skin fi￭ bro￭ bl￭ asts it was first described by philip pal￭ lis￭ ter in 1977 and further researched by maria tes￭ ch￭ ler nicol￭ a and wolfgang kil￭ lian in 1981
un￭ ip￭ aren￭ tal dis￭ omy
gang￭ rene
gang￭ rene or gang￭ ren￭ ous necro￭ sis is a type of necro￭ sis caused by a critically insufficient blood supply this potentially life threatening condition may occur after an injury or infection or in people suffering from any chronic health problem affecting blood circulation the primary cause of gang￭ rene is reduced blood supply to the affected tissues which results in cell death diabetes and long term smoking increase the risk of suffering from gang￭ rene
gang￭ rene or gang￭ ren￭ ous necro￭ sis is a type of necro￭ sis caused by a critically insufficient blood supply this potentially life threatening condition may occur after an injury or infection or in people suffering from any chronic health problem affecting blood circulation the primary cause of gang￭ rene is reduced blood supply to the affected tissues which results in cell death diabetes and long term smoking increase the risk of suffering from gang￭ rene gang￭ rene is not a communicable disease it does not spread from person to person the types of gang￭ rene differ in symptoms and include dry gang￭ rene wet gang￭ rene gas gang￭ rene internal gang￭ rene and necro￭ tizing fas￭ ci￭ i￭ tis treatment depends on the underlying cause and can include res￭ ection debri￭ d￭ ement or in severe cases ampu￭ tation of the affected body parts antibiotics rev￭ as￭ cul￭ arization via a vascular bypass or an￭ gi￭ op￭ la￭ sty or hyper￭ bar￭ ic oxygen therapy it can rarely include medical therapy to stop vascular sp￭ asm or the production of cold induced vascular obstruction by cold precipit￭ ated cry￭ o￭ glob￭ ul￭ ins
no￭ se￭ bleed
ep￭ is￭ tax￭ is also known as a no￭ se￭ bleed is the common occurrence of bleeding from the nose it is usually noticed when the blood dra￭ ins out through the no￭ stri￭ ls there are two types an￭ terior the most common and poster￭ ior less common more likely to require medical attention sometimes in more severe cases the blood can come up the nas￭ ol￭ ac￭ ri￭ mal duc￭ t and out from the eye fresh blood and clo￭ tted blood can also flow down into the stomach and cause naus￭ ea and v￭ om￭ iting
hyper￭ cap￭ nia
hyper￭ cap￭ nia also known as hyper￭ car￭ bia and co 2 retention is a condition of abnormally elevated carbon dioxide co 2 levels in the blood carbon dioxide is a gaseous product of the body s metabol￭ ism and is normally expelled through the lungs hyper￭ cap￭ nia normally triggers a reflex which increases breathing and access to oxygen o such as ar￭ ous￭ al and turning the head during sleep a failure of this reflex can be fatal for example as a contributory factor in sudden infant death syndrome
hyper￭ cap￭ nia also known as hyper￭ car￭ bia and co 2 retention is a condition of abnormally elevated carbon dioxide co 2 levels in the blood carbon dioxide is a gaseous product of the body s metabol￭ ism and is normally expelled through the lungs hyper￭ cap￭ nia normally triggers a reflex which increases breathing and access to oxygen o such as ar￭ ous￭ al and turning the head during sleep a failure of this reflex can be fatal for example as a contributory factor in sudden infant death syndrome hyper￭ cap￭ nia is the opposite of hypo￭ cap￭ nia the state of having abnormally reduced levels of carbon dioxide in the blood the word is from the greek hyper above or too much and kap￭ nos smoke
post nas￭ al drip
post nas￭ al drip p￭ nd also termed upper air￭ way cough syndrome u￭ acs or post nas￭ al drip syndrome p￭ n￭ ds occurs when excessive m￭ uc￭ us is produced by the nas￭ al mu￭ co￭ sa the excess m￭ uc￭ us accumul￭ ates in the throat or back of the nose it is caused by rh￭ initi￭ s sin￭ u￭ si￭ tis gastro￭ es￭ op￭ ha￭ ge￭ al ref￭ lux disease ger￭ d or by a disorder of sw￭ allowing such as an es￭ op￭ ha￭ ge￭ al mo￭ ti￭ lity disorder it is frequently caused by an allergy which may be seasonal or persistent throughout the year
acute ab￭ dom￭ en
col￭ ic
col￭ ic from greek κο￭ λ￭ ικ￭ ός ko￭ li￭ kos relative to the col￭ on or chol￭ ic is a form of pain that starts and stops abruptly it occurs due to muscular contr￭ actions of a hollow tube col￭ on u￭ re￭ ter g￭ all blad￭ der etc in an attempt to relieve an obstruction by forcing content out it may be accompanied by v￭ om￭ iting and swe￭ ating types include
col￭ ic from greek κο￭ λ￭ ικ￭ ός ko￭ li￭ kos relative to the col￭ on or chol￭ ic is a form of pain that starts and stops abruptly it occurs due to muscular contr￭ actions of a hollow tube col￭ on u￭ re￭ ter g￭ all blad￭ der etc in an attempt to relieve an obstruction by forcing content out it may be accompanied by v￭ om￭ iting and swe￭ ating types include baby col￭ ic a condition usually in infants characterized by inc￭ ess￭ ant crying ren￭ al col￭ ic a pain in the flank characteristic of kidney stones bi￭ li￭ ary col￭ ic block￭ age by a gall￭ stone of the common bile duc￭ t or c￭ ys￭ tic duc￭ t horse col￭ ic a potentially fatal condition experienced by horses caused by intest￭ inal displacement or block￭ age dev￭ on col￭ ic an afflic￭ tion caused by lead poisoning pain￭ ter s col￭ ic or lead poisoning
baby col￭ ic
baby col￭ ic also known as inf￭ anti￭ le col￭ ic is defined as episodes of crying for more than three hours a day for more than three days a week for three weeks in an otherwise healthy child often crying occurs in the evening it typically does not result in long term problems the crying can cause frustration for the parents depression following delivery excess visits to the doctor and child abuse
baby col￭ ic also known as inf￭ anti￭ le col￭ ic is defined as episodes of crying for more than three hours a day for more than three days a week for three weeks in an otherwise healthy child often crying occurs in the evening it typically does not result in long term problems the crying can cause frustration for the parents depression following delivery excess visits to the doctor and child abuse the cause of col￭ ic is unknown some believe it is due to gastro￭ intest￭ inal discomfort like intest￭ inal cram￭ ping diagnosis requires ruling out other possible causes concerning findings include a fever poor activity or a sw￭ oll￭ en ab￭ dom￭ en fewer than 5 of infants with excess crying have an underlying organic disease treatment is generally conservative with little to no role for either medications or alternative therapies extra support for the parents may be useful tentative evidence supports pro￭ bio￭ tics in those who are breast￭ feed and hydro￭ ly￭ zed formula in those who are bott￭ le￭ feed col￭ ic affects 10 – 40 of children it is most common at six weeks of age and typically goes away by six months of age it rarely lasts up to one year of age it occurs at the same rate in boys and in girls the first detailed medical description of the problem occurred in 1954
f￭ ec￭ al v￭ om￭ iting
f￭ ec￭ al v￭ om￭ iting also called f￭ ec￭ ul￭ ent v￭ om￭ iting and ster￭ cor￭ ac￭ eous v￭ om￭ iting is a kind of v￭ om￭ iting where￭ in the material v￭ om￭ ited is of f￭ ec￭ al origin it is a common symptom of gastro￭ je￭ jun￭ o￭ col￭ ic f￭ ist￭ ula and intest￭ inal obstruction in the i￭ leum f￭ ec￭ al v￭ om￭ iting is often accompanied by an od￭ or of f￭ ec￭ es on the breath and other gastro￭ intest￭ inal symptoms including ab￭ domin￭ al pain ab￭ domin￭ al dis￭ tension dehydr￭ ation and diarr￭ hea in severe cases of bo￭ wel obstruction or con￭ sti￭ p￭ ation such as those related to clo￭ zap￭ ine treatment f￭ ec￭ al v￭ om￭ iting has been identified as a cause of death
f￭ ec￭ al v￭ om￭ iting also called f￭ ec￭ ul￭ ent v￭ om￭ iting and ster￭ cor￭ ac￭ eous v￭ om￭ iting is a kind of v￭ om￭ iting where￭ in the material v￭ om￭ ited is of f￭ ec￭ al origin it is a common symptom of gastro￭ je￭ jun￭ o￭ col￭ ic f￭ ist￭ ula and intest￭ inal obstruction in the i￭ leum f￭ ec￭ al v￭ om￭ iting is often accompanied by an od￭ or of f￭ ec￭ es on the breath and other gastro￭ intest￭ inal symptoms including ab￭ domin￭ al pain ab￭ domin￭ al dis￭ tension dehydr￭ ation and diarr￭ hea in severe cases of bo￭ wel obstruction or con￭ sti￭ p￭ ation such as those related to clo￭ zap￭ ine treatment f￭ ec￭ al v￭ om￭ iting has been identified as a cause of death f￭ ec￭ al v￭ om￭ iting occurs when the bo￭ wel is obstructed for some reason and intest￭ inal contents cannot move normally per￭ ist￭ al￭ tic waves occur in an attempt to de￭ com￭ press the intest￭ ine and the strong contr￭ actions of the intest￭ inal muscles push the contents backwards through the p￭ yl￭ or￭ ic sp￭ h￭ inc￭ ter into the stomach where they are then v￭ om￭ ited f￭ ec￭ al v￭ om￭ iting can also occur in cats
en￭ co￭ pres￭ is
en￭ co￭ pres￭ is from the ancient greek ἐ￭ γ￭ κ￭ ό￭ πρ￭ η￭ σ￭ ις eg￭ k￭ ó￭ pr￭ ē￭ sis also known as paradoxical diarr￭ hea is voluntary or involuntary f￭ ec￭ al so￭ iling in children who have usually already been toilet trained persons with en￭ co￭ pres￭ is often leak sto￭ ol into their under￭ garments this term is usually applied to children and where the symptom is present in adults it is more commonly known as f￭ ec￭ al leakage fl f￭ ec￭ al so￭ iling or f￭ ec￭ al se￭ ep￭ age
he￭ pat￭ os￭ plen￭ om￭ eg￭ al￭ y
he￭ pat￭ os￭ plen￭ om￭ eg￭ al￭ y commonly abbreviated h￭ sm is the simultaneous enlargement of both the liver he￭ pat￭ om￭ eg￭ al￭ y and the sp￭ leen splen￭ om￭ eg￭ al￭ y he￭ pat￭ os￭ plen￭ om￭ eg￭ al￭ y can occur as the result of acute viral hepatitis infectious mon￭ on￭ uc￭ le￭ osis and hist￭ op￭ las￭ mo￭ sis or it can be the sign of a serious and life threatening ly￭ so￭ som￭ al storage disease systemic ven￭ ous hyper￭ tension can also increase the risk for developing he￭ pat￭ os￭ plen￭ om￭ eg￭ al￭ y which may be seen in those patients with right sided heart failure
as￭ cites
as￭ cites is a gastro￭ enter￭ ological term for an accumulation of fluid in the per￭ it￭ one￭ al cav￭ ity that exceeds 25 ml although most commonly due to cir￭ rho￭ sis severe liver disease or me￭ ta￭ static cancer its presence can be a sign of other significant medical problems such as bud￭ d – chi￭ ari syndrome diagnosis of the cause is usually with blood tests an ul￭ tras￭ ound scan of the ab￭ dom￭ en and direct removal of the fluid by needle or par￭ ac￭ ent￭ esis which may also be therapeutic treatment may be with medication di￭ u￭ re￭ tics par￭ ac￭ ent￭ esis or other treatments directed at the cause the term is from greek as￭ k￭ í￭ tes meaning bag￭ like
som￭ at￭ os￭ ens￭ ory disorder
a som￭ at￭ os￭ ens￭ ory disorder is an impairment of the som￭ at￭ os￭ ens￭ ory system an example is hypo￭ esthesia
hyper￭ esthesia
hyper￭ esthesia or hyper￭ a￭ esthesia is a condition that involves an abnormal increase in sensitivity to stimul￭ i of the sense when a non noxious stimulus causes the sensation of pain the area will be termed hyper￭ aesthetic stimul￭ i of the senses can include sound that one hears foods that one tastes tex￭ tures that one feels and so forth increased touch sensitivity is referred to as t￭ acti￭ le hyper￭ esthesia and increased sound sensitivity is called aud￭ itory hyper￭ esthesia t￭ acti￭ le hyper￭ esthesia may be a common symptom of many neuro￭ logic disorders such as her￭ pes zo￭ ster peripheral neuro￭ pa￭ thy and radic￭ ul￭ opath￭ ies in 1979 and then in 1994 mer￭ s￭ key bo￭ g￭ du￭ k no￭ ord￭ en￭ bos dev￭ or and others a subcommittee of international association for the study of pain proposed instead of hyper￭ a￭ esthe￭ ia th
sp￭ as￭ tic￭ ity
sp￭ as￭ tic￭ ity from greek sp￭ as￭ mos meaning drawing pulling is a feature of altered sk￭ el￭ etal muscle performance with a combination of paralysis increased tend￭ on reflex activity and hyper￭ ton￭ ia it is also col￭ lo￭ qu￭ ially referred to as an unusual ti￭ ght￭ ness sti￭ ff￭ ness or pull of muscles clin￭ ically sp￭ as￭ tic￭ ity results from the loss of inhi￭ bi￭ tion of motor neurons causing excessive muscle contraction this ultimately leads to hyper￭ refl￭ ex￭ ia an exaggerated deep tend￭ on reflex sp￭ as￭ tic￭ ity is often treated with the drug bac￭ lo￭ fen which acts as an agon￭ ist at gab￭ a recep￭ tors which are inhi￭ bit￭ ory
tr￭ is￭ mus
tr￭ is￭ mus or lock￭ jaw refers to reduced opening of the ja￭ ws caused by sp￭ asm of the muscles of mas￭ tication or more generally to any instance limited mouth opening stemming from a variety of causes temporary tr￭ is￭ mus occurs much more frequently than permanent tr￭ is￭ mus it is known to interfere with eating speaking and maintaining proper oral hygiene this interference specifically with the patient s ability to swallow properly results in an increased risk of aspiration in some instances tr￭ is￭ mus presents with altered facial appearance the condition may be distressing and painful for the patient examination and treatments requiring access to the oral cav￭ ity can be limited or in some cases impossible due to the nature of the condition itself
athe￭ to￭ sis
athe￭ to￭ sis is a symptom characterized by slow involuntary con￭ volu￭ ted w￭ ri￭ thing movements of the fingers hands toes and feet and in some cases arms legs neck and tongue movements typical of athe￭ to￭ sis are sometimes called athe￭ to￭ id movements le￭ sions to the brain are most often the direct cause of the symptoms particularly to the corpus stri￭ at￭ um this symptom does not occur alone and is often accompanied by the symptoms of cere￭ br￭ al pal￭ sy as it is often a result of this disease treatments for athe￭ to￭ sis are not very effective and in most cases are simply aimed at the uncontrollable movement rather than the cause itself
dys￭ me￭ tri￭ a
dys￭ me￭ tri￭ a english wrong length refers to a lack of coordination of movement ty￭ pi￭ fied by the under￭ shoot or over￭ shoot of intended position with the hand arm leg or eye it is a type of at￭ ax￭ ia it is sometimes described as an inability to judge distance or scale hyper￭ me￭ tri￭ a and hypo￭ me￭ tri￭ a refer respectively to over￭ shooting and under￭ shooting the intended position
ast￭ eri￭ x￭ is
ast￭ eri￭ x￭ is also called the fl￭ apping trem￭ or or liver fl￭ ap is a trem￭ or of the hand when the wrist is extended sometimes said to resemble a bird fl￭ apping its wings this motor disorder is characterized by an inability to actively maintain a position which is demonstrated by jer￭ king movements of the out￭ stretched hands when bent upward at the wrist the trem￭ or is caused by abnormal function of the di￭ encephal￭ ic motor centers in the brain which regulate the muscles involved in maintaining position ast￭ eri￭ x￭ is is associated with various encephalopathies due especially to faulty metabol￭ ism the term derives from the greek a not and st￭ ē￭ ri￭ x￭ is fixed position
men￭ ing￭ ism
men￭ ing￭ ism is the tri￭ ad of nu￭ ch￭ al rigidity neck sti￭ ff￭ ness pho￭ top￭ ho￭ bia intolerance of bright light and headache it is a sign of irritation of the men￭ inges such as seen in men￭ ing￭ i￭ tis sub￭ ar￭ ach￭ no￭ id hemorrha￭ ges and various other diseases men￭ ing￭ is￭ mus is the term used when the above listed symptoms are present without actual infection or infl￭ amm￭ ation usually it is seen in conc￭ ord￭ ance with other acute illnesses in the pedi￭ atric population related clinical signs include ker￭ ni￭ g s sign and three signs all named bru￭ dz￭ in￭ ski s sign
falls in older adults
falls in older adults are a significant cause of morbi￭ dity and mortality and are an important class of preventable injuries the cause of falling in old age is often multi￭ fac￭ torial and may require a multidisciplinary approach both to treat any injuries sustained and to prevent future falls falls include dropping from a standing position or from exposed positions such as those on l￭ adders or ste￭ pl￭ adders the severity of injury is generally related to the height of the fall the state of the ground surface onto which the victim falls is also important harder surfaces causing more severe injury falls can be prevented by ensuring that car￭ pets are tac￭ ked down that objects like electric cords are not in one s path that hearing and vision are optimi￭ zed di￭ zz￭ iness is minimized alcohol in￭ ta￭ k
falls in older adults are a significant cause of morbi￭ dity and mortality and are an important class of preventable injuries the cause of falling in old age is often multi￭ fac￭ torial and may require a multidisciplinary approach both to treat any injuries sustained and to prevent future falls falls include dropping from a standing position or from exposed positions such as those on l￭ adders or ste￭ pl￭ adders the severity of injury is generally related to the height of the fall the state of the ground surface onto which the victim falls is also important harder surfaces causing more severe injury falls can be prevented by ensuring that car￭ pets are tac￭ ked down that objects like electric cords are not in one s path that hearing and vision are optimi￭ zed di￭ zz￭ iness is minimized alcohol intake is moder￭ ated and that shoes have low heels or rubber sol￭ es
som￭ no￭ l￭ ence
som￭ no￭ l￭ ence alternatively sleep￭ iness or drow￭ sin￭ ess is a state of strong desire for sleep or sleeping for unusually long periods compare hyper￭ som￭ nia it has distinct meanings and causes it can refer to the usual state preceding falling asleep the condition of being in a drow￭ sy state due to cir￭ c￭ adi￭ an rhythm disorders or a symptom of other health problems it can be accompanied by leth￭ ar￭ gy weakness and lack of mental ag￭ ility the word som￭ no￭ l￭ ence is derived from the latin som￭ nus meaning sleep
som￭ no￭ l￭ ence alternatively sleep￭ iness or drow￭ sin￭ ess is a state of strong desire for sleep or sleeping for unusually long periods compare hyper￭ som￭ nia it has distinct meanings and causes it can refer to the usual state preceding falling asleep the condition of being in a drow￭ sy state due to cir￭ c￭ adi￭ an rhythm disorders or a symptom of other health problems it can be accompanied by leth￭ ar￭ gy weakness and lack of mental ag￭ ility som￭ no￭ l￭ ence is often viewed as a symptom rather than a disorder by itself however the concept of som￭ no￭ l￭ ence recurring at certain times for certain reasons constitutes various disorders such as excessive day￭ time sleep￭ iness shift work sleep disorder and others and there are medical codes for som￭ no￭ l￭ ence as viewed as a disorder sleep￭ iness can be dangerous when performing tasks that require constant concentration such as driving a vehicle when a person is sufficiently fati￭ gu￭ ed micro￭ sleeps may be experienced the word som￭ no￭ l￭ ence is derived from the latin som￭ nus meaning sleep
halluc￭ ination
a halluc￭ ination is a perception in the absence of external stimulus that has qualities of real perception halluc￭ inations are vivid substantial and are perceived to be located in external objective space they are distingu￭ ishable from these related phenomena dreaming which does not involve wa￭ ke￭ fulness illusion which involves distorted or misinterpreted real perception imag￭ ery which does not mim￭ ic real perception and is under voluntary control and pseu￭ do￭ halluc￭ ination which does not mim￭ ic real perception but is not under voluntary control halluc￭ inations also differ from delu￭ sional perceptions in which a correctly sensed and interpreted stimulus i e a real perception is given some additional and typically absurd significance
syn￭ esthesia
syn￭ esthesia also spelled syn￭ æ￭ s￭ the￭ sia or sy￭ na￭ esthesia from the ancient greek σύ￭ ν syn together and α￭ ἴ￭ σ￭ θη￭ σ￭ ις ais￭ th￭ ē￭ sis sensation is a neuro￭ logical phenomenon in which stimulation of one sensory or cognitive path￭ way leads to automatic involuntary experiences in a second sensory or cognitive path￭ way people who report a lifelong history of such experiences are known as syn￭ esthe￭ tes only a fraction of types of syn￭ esthesia have been evaluated by scientific research awareness of syn￭ esthetic perceptions varies from person to person
syn￭ esthesia also spelled syn￭ æ￭ s￭ the￭ sia or sy￭ na￭ esthesia from the ancient greek σύ￭ ν syn together and α￭ ἴ￭ σ￭ θη￭ σ￭ ις ais￭ th￭ ē￭ sis sensation is a neuro￭ logical phenomenon in which stimulation of one sensory or cognitive path￭ way leads to automatic involuntary experiences in a second sensory or cognitive path￭ way people who report a lifelong history of such experiences are known as syn￭ esthe￭ tes in one common form of syn￭ esthesia known as graph￭ em￭ e color syn￭ esthesia or color graph￭ emic syn￭ esthesia letters or numbers are perceived as inherently colored in spatial sequence or number form syn￭ esthesia numbers months of the year and or days of the week elic￭ it precise locations in space for example 1980 may be farther away than 1990 or may appear as a three dimensional map c￭ lock￭ wise or counter￭ c￭ lock￭ wise syn￭ esthetic associations can occur in any combination and any number of senses or cognitive pathways little is known about how syn￭ esthesia develops it has been suggested that syn￭ esthesia develops during childhood when children are intensively engaged with abstract concepts for the first time this hypothesis – referred to as sem￭ an￭ tic vacuum hypothesis – explains why the most common forms of syn￭ esthesia are graph￭ em￭ e color spatial sequence and number form these are usually the first abstract concepts that educational systems require children to learn only a fraction of types of syn￭ esthesia have been evaluated by scientific research awareness of syn￭ esthetic perceptions varies from person to person difficulties have been recognized in adequately defining syn￭ esthesia many different phenomena have been included in the term syn￭ esthesia union of the senses and in many cases the terminology seems to be inaccurate a more accurate term may be ide￭ as￭ the￭ sia
suicidal ide￭ ation
suicidal ide￭ ation also known as suicidal thoughts concerns thoughts about or an unusual preoccupation with suicide the range of suicidal ide￭ ation varies greatly from fle￭ e￭ ting thoughts to extensive thoughts to detailed planning role playing e g standing on a chair with a noose and incomplete attempts which may be deliberately constructed to not complete or to be discovered or may be fully intended to result in death but the individual survives e g in the case of a hanging in which the cord breaks
suicidal ide￭ ation also known as suicidal thoughts concerns thoughts about or an unusual preoccupation with suicide the range of suicidal ide￭ ation varies greatly from fle￭ e￭ ting thoughts to extensive thoughts to detailed planning role playing e g standing on a chair with a noose and incomplete attempts which may be deliberately constructed to not complete or to be discovered or may be fully intended to result in death but the individual survives e g in the case of a hanging in which the cord breaks most people who have suicidal thoughts do not go on to make suicide attempts but it is considered a risk factor during 2008 09 an estimated 8 3 million adults aged 18 and over in the united states or 3 7 of the adult us population reported having suicidal thoughts in the previous year an estimated 2 2 million in the us reported having made suicide plans in the past year suicidal ide￭ ation is generally associated with depression and other mood disorders however it seems to have associations with many other mental disorders life events and family events all of which may increase the risk of suicidal ide￭ ation for example many individuals with borderline personality disorder exhibit recurrent suicidal behavior and suicidal thoughts one study found that 73 of patients with borderline personality disorder have attempted suicide with the average patient having 3 4 attempts currently there are a number of treatment options for those experiencing suicidal ide￭ ation
dys￭ ar￭ thri￭ a
dys￭ ar￭ thri￭ a is a motor speech disorder resulting from neuro￭ logical injury of the motor component of the motor speech system and is characterized by poor artic￭ ulation of ph￭ on￭ em￭ es cf ap￭ ha￭ sia a disorder of the content of language in other words it is a condition in which problems effectively occur with the muscles that help produce speech often making it very difficult to pronounce words it is unrelated to any problem with understanding cognitive language any of the speech subsystems respir￭ ation ph￭ on￭ ation resonance pro￭ so￭ dy and artic￭ ulation can be affected leading to impair￭ ments in intel￭ li￭ gibility audi￭ bility natur￭ al￭ ness and efficiency of vocal communication dys￭ ar￭ thri￭ a that has progressed to a total loss of speech is referred to as an￭ ar￭ thri￭ a
dys￭ ar￭ thri￭ a is a motor speech disorder resulting from neuro￭ logical injury of the motor component of the motor speech system and is characterized by poor artic￭ ulation of ph￭ on￭ em￭ es cf ap￭ ha￭ sia a disorder of the content of language in other words it is a condition in which problems effectively occur with the muscles that help produce speech often making it very difficult to pronounce words it is unrelated to any problem with understanding cognitive language any of the speech subsystems respir￭ ation ph￭ on￭ ation resonance pro￭ so￭ dy and artic￭ ulation can be affected leading to impair￭ ments in intel￭ li￭ gibility audi￭ bility natur￭ al￭ ness and efficiency of vocal communication dys￭ ar￭ thri￭ a that has progressed to a total loss of speech is referred to as an￭ ar￭ thri￭ a neuro￭ logical injury due to damage in the central or peripheral nervous system may result in weakness paralysis or a lack of coordination of the motor speech system producing dys￭ ar￭ thri￭ a these effects in turn hinder control over the tongue throat lips or lungs for example sw￭ allowing problems dy￭ sp￭ ha￭ gia are also often present in those with dys￭ ar￭ thri￭ a dys￭ ar￭ thri￭ a does not include speech disorders from structural ab￭ norm￭ alities such as cle￭ ft pal￭ ate and must not be confused with ap￭ ra￭ x￭ ia of speech which refers to problems in the planning and programming aspect of the motor speech system just as the term artic￭ ulation can mean either speech or joint movement so is the combining form of arth￭ r the same in the terms dys￭ ar￭ thri￭ a dys￭ ar￭ thro￭ sis and ar￭ thro￭ pa￭ thy the term dys￭ ar￭ thri￭ a is conventi￭ onally reserved for the speech problem and is not used to refer to ar￭ thro￭ pa￭ thy whereas dys￭ ar￭ thro￭ sis has both senses but usually refers to ar￭ thro￭ pa￭ thy cran￭ ial nerves that control the muscles relevant to dys￭ ar￭ thri￭ a include the tri￭ gem￭ inal nerve s motor branch v the facial nerve vii the glos￭ sop￭ har￭ yn￭ ge￭ al nerve ix the vag￭ us nerve x and the hypo￭ glos￭ sal nerve xii the term is from ancient greek δ￭ υ￭ σ d￭ ys hard difficult bad and ἄ￭ ρ￭ θρ￭ ω￭ σ￭ ις ar￭ thro￭ sis artic￭ ulation
ap￭ ra￭ x￭ ia
pro￭ sop￭ agno￭ sia
pro￭ sop￭ agno￭ sia ˌ￭ pr￭ ɑ￭ ː￭ s￭ ə￭ p￭ æ￭ ɡ￭ ˈ￭ no￭ ʊ￭ ʒ￭ ə greek pro￭ sop￭ on face agno￭ sia not knowing also called face blindness is a cognitive disorder of face perception where the ability to recognize familiar faces including one s own face self recognition is impaired while other aspects of visual processing e g object discrimination and intellectual functioning e g decision making remain intact the term originally referred to a condition following acute brain damage acquired pro￭ sop￭ agno￭ sia but a con￭ genital or developmental form of the disorder also exists which may affect up to 2 5 of the population the specific brain area usually associated with pro￭ sop￭ agno￭ sia is the fu￭ si￭ form gy￭ rus which activ￭ ates specifically in response to faces the functionality of the fu￭ si￭ form gy￭ rus allow
ec￭ hol￭ alia
ec￭ hol￭ alia also known as echo￭ logia or ec￭ hop￭ h￭ ra￭ sia is defined as the unsolicited repetition of voc￭ alizations made by another person by the same person is called pal￭ il￭ alia in its profound form it is automatic and effor￭ tless it is one of the ec￭ hop￭ hen￭ omen￭ a closely related to ec￭ hop￭ ra￭ x￭ ia the automatic repetition of movements made by another person both are sub￭ sets of im￭ itative behavior whereby sounds or actions are im￭ itated without explicit awareness ec￭ hol￭ alia may be an immediate reaction to a stimulus or may be delayed
fever of unknown origin
con￭ vul￭ sion
a con￭ vul￭ sion is a medical condition where body muscles contract and relax rapidly and repeatedly resulting in an uncontrolled shaking of the body because a con￭ vul￭ sion is often a symptom of an epi￭ le￭ ptic seizure the term con￭ vul￭ sion is sometimes used as a synon￭ ym for seizure however not all epi￭ le￭ ptic seizures lead to con￭ vul￭ sions and not all con￭ vul￭ sions are caused by epi￭ le￭ ptic seizures con￭ vul￭ sions are also consistent with an electric shock and improper enriched air s￭ cuba diving for non epi￭ le￭ ptic con￭ vul￭ sions see non epi￭ le￭ ptic seizures
fe￭ bri￭ le seizure
a fe￭ bri￭ le seizure also known as a fever fit or fe￭ bri￭ le con￭ vul￭ sion is a seizure associated with a high body temperature but without any serious underlying health issue they most commonly occur in children between the ages of 6 months and 5 years most seizures are less than five minutes in duration and the child is completely back to normal within sixty minutes of the event
a fe￭ bri￭ le seizure also known as a fever fit or fe￭ bri￭ le con￭ vul￭ sion is a seizure associated with a high body temperature but without any serious underlying health issue they most commonly occur in children between the ages of 6 months and 5 years most seizures are less than five minutes in duration and the child is completely back to normal within sixty minutes of the event fe￭ bri￭ le seizures may run in families the diagnosis involves verifying that there is not an infection of the brain there are no metabol￭ ic problems and there have not been prior seizures that have occurred without a fever there are two types of fe￭ bri￭ le seizures simple fe￭ bri￭ le seizures and complex fe￭ bri￭ le seizures simple fe￭ bri￭ le seizures involve an otherwise healthy child who has at most one tonic cl￭ onic seizure lasting less than 15 minutes in a 24 hour period blood testing imaging of the brain or an electro￭ encephal￭ o￭ gram eeg is typically not needed for the diagnosis examination to determine the source of the fever is recommended in otherwise healthy looking children a lum￭ bar punc￭ ture is not necessarily required neither anti seizure medication nor anti fever medication are recommended in an effort to prevent further simple fe￭ bri￭ le seizures in the few cases that last greater than five minutes a benzo￭ di￭ az￭ ep￭ ine such as lor￭ az￭ ep￭ am or mid￭ az￭ ol￭ am may be used outcomes are generally excellent with similar academic achievements to other children and no change in the risk of death for those with simple seizures there is tentative evidence that children have a slight increased risk of epi￭ le￭ psy at 2 fe￭ bri￭ le seizures affect two to ten percent of children before the age of five they are more common in boys than girls after a single fe￭ bri￭ le seizure there is a 15 to 70 chance of another one
bleeding
hyper￭ hi￭ dro￭ sis
hyper￭ hi￭ dro￭ sis is a condition characterized by abnormally increased swe￭ ating in excess of that required for regulation of body temperature hyper￭ hi￭ dro￭ sis can be associated with a quality of life burden from a psychological emotional and social perspective it has been called by some the silent handicap both the words di￭ ap￭ ho￭ res￭ is and hi￭ dro￭ sis can mean either per￭ spir￭ ation in which sense they are synonymous with swe￭ ating or excessive per￭ spir￭ ation in which case they refer to a specific narrowly defined clinical disorder
weight loss
weight loss in the context of medicine health or physical fitness refers to a reduction of the total body mass due to a mean loss of fluid body fat or adi￭ pose tissue and or lean mass namely bone mineral deposits muscle tend￭ on and other connec￭ tive tissue weight loss can either occur un￭ intentionally due to mal￭ nour￭ ishment or an underlying disease or arise from a conscious effort to improve an actual or perceived overweight or ob￭ ese state un￭ explained weight loss that is not caused by reduction in cal￭ ori￭ fic intake or exercise is called c￭ ach￭ ex￭ ia and may be a symptom of a serious medical condition is commonly referred to as slim￭ ming
multiple organ dysfunction syndrome
multiple organ dysfunction syndrome mo￭ ds also known as multiple organ failure m￭ of total organ failure t￭ of or multi￭ system organ failure ms￭ of is altered organ function in an acutely ill patient requiring medical intervention to achieve home￭ ost￭ asis although ir￭ win ri￭ ppe cau￭ tions in 2005 that the use of multiple organ failure or multi￭ system organ failure should be avoided both harrison s 2015 and cec￭ il s 2012 medical textbooks still use the terms multi organ failure and multiple organ failure in several chapters and do not use multiple organ dysfunction syndrome at all
po￭ i￭ ki￭ loc￭ y￭ to￭ sis
po￭ i￭ ki￭ loc￭ y￭ to￭ sis refers to the presence of po￭ i￭ ki￭ loc￭ y￭ tes in the blood po￭ i￭ ki￭ loc￭ y￭ tes are abnormally shaped red blood cells as seen on a blood film in humans and many wild and domestic species of animals though they are common in some clin￭ ically normal small ruminants particularly goats normal red blood cells are round fl￭ att￭ ened disks that are thin￭ ner in the middle than at the edges a po￭ i￭ ki￭ loc￭ y￭ te is an abnormally shaped cell generally po￭ i￭ ki￭ loc￭ y￭ to￭ sis can refer to an increase in abnormal red blood cells of any shape where they make up 10 or more of the total population
hyper￭ gly￭ cem￭ ia
elevated trans￭ amin￭ ases
in medicine the presence of elevated trans￭ amin￭ ases commonly the trans￭ amin￭ ases alan￭ ine trans￭ amin￭ ase alt and as￭ part￭ ate trans￭ amin￭ ase ast may be an indicator of liver damage other terms employed include trans￭ am￭ inas￭ emia and trans￭ am￭ initi￭ s although some sources consider the latter patho￭ logically meaningless normal ranges for both alt and ast are 8 40 u l with mild trans￭ amin￭ es￭ emia noted to the upward numerical limit of 250 u l drug induced increases such as that found with the use of anti tuberculosis agents such as is￭ oni￭ az￭ id are limited typically to below 100 u l for either alt or ast cir￭ rho￭ sis of the liver or ful￭ min￭ ant liver failure secondary to hepatitis commonly reach values for both alt and ast in the 1000 u l range elevated trans￭ amin￭ ases that persist less than six months are t
az￭ o￭ tem￭ ia
my￭ o￭ glob￭ in￭ ur￭ ia
bi￭ li￭ ru￭ bin￭ ur￭ ia
h￭ emo￭ glob￭ in￭ ur￭ ia
short q￭ t syndrome
short q￭ t syndrome is a genetic disease of the electrical system of the heart it consists of a con￭ stell￭ ation of signs and symptoms consisting of a short q￭ t interval on an e￭ kg ≤ 300 ms that does not significantly change with heart rate tall and peaked t waves and a structurally normal heart short q￭ t syndrome appears to be inherited in an auto￭ som￭ al dominant pattern and a few affected families have been identified
sudden infant death syndrome
sudden infant death syndrome si￭ ds also known as cot death or cri￭ b death is the sudden un￭ explained death of a child less than one year of age diagnosis requires that the death remains un￭ explained even after a thorough autopsy and detailed death scene investigation si￭ ds usually occurs during sleep typically death occurs between the hours of 00 00 and 09 00 there is usually no evidence of struggle and no noise produced
sudden infant death syndrome si￭ ds also known as cot death or cri￭ b death is the sudden un￭ explained death of a child less than one year of age diagnosis requires that the death remains un￭ explained even after a thorough autopsy and detailed death scene investigation si￭ ds usually occurs during sleep typically death occurs between the hours of 00 00 and 09 00 there is usually no evidence of struggle and no noise produced the exact cause of si￭ ds is unknown the requirement of a combination of factors including a specific underlying suscep￭ tibility a specific time in development and an environmental stres￭ sor has been proposed these environmental stres￭ sors may include sleeping on the stomach or side overheating and exposure to tobacco smoke accidental suffoc￭ ation such as during bed sharing or from soft objects may also play a role another risk factor is being born before 39 weeks of gest￭ ation si￭ ds makes up about 80 of sudden and unexpected infant deaths su￭ ids with other causes including infections genetic disorders and heart problems while child abuse in the form of intentional suffoc￭ ation may be mis￭ diagnosed as si￭ ds this is believed to make up less than 5 of cases the most effective method of reducing the risk of si￭ ds is putting a child less than one year old on their back to sleep other measures include a firm mat￭ tress separate from but close to ca￭ reg￭ i￭ vers no loose bed￭ ding a relatively cool sleeping environment using a paci￭ fier and avoiding exposure to tobacco smoke breastfeeding and immun￭ ization may also be preventive measures not shown to be useful include positioning devices and baby monitors evidence is not sufficient for the use of fans grief support for families imp￭ acted by si￭ ds is important as the death of the infant is sudden without witnesses and often associated with an investigation rates of si￭ ds vary nearly ten￭ fold in developed countries from one in a thousand to one in ten thousand globally it resulted in about 15 000 deaths in 2013 down from 22 000 deaths in 1990 si￭ ds was the third leading cause of death in children less than one year old in the united states in 2011 it is the most common cause of death between one month and one year of age about 90 of cases happen before six months of age with it being most frequent between two months and four months of age it is more common in boys than girls
bru￭ ise
a bru￭ ise or con￭ tu￭ sion is a type of hem￭ atom￭ a of tissue in which cap￭ il￭ lar￭ ies and sometimes ven￭ ules are damaged by trauma allowing blood to se￭ ep hemorrha￭ ge or extr￭ av￭ as￭ ate into the surrounding inter￭ sti￭ tial tissues bru￭ ises which do not blan￭ ch under pressure can involve cap￭ il￭ lar￭ ies at the level of skin sub￭ cu￭ taneous tissue muscle or bone bru￭ ises are not to be confused with other similar looking le￭ sions primarily distinguished by their diameter or causation these le￭ sions include pe￭ tec￭ hia 3 mm result from numerous and diverse eti￭ o￭ logies such as adverse reactions from medications such as war￭ far￭ in str￭ aining as￭ phy￭ xi￭ ation plat￭ elet disorders and diseases such as cy￭ tom￭ eg￭ alo￭ virus pur￭ pur￭ a 3 mm to 1 cm classified as palpable pur￭ pur￭ a or non palpable pur￭ pur￭ a and indicates various path￭ ol
injury
black eye
a black eye peri￭ orb￭ ital hem￭ atom￭ a or shin￭ er is bru￭ ising around the eye commonly due to an injury to the face rather than to the eye the name is given due to the color of bru￭ ising the so called black eye is caused by bleeding beneath the skin and around the eye sometimes a black eye could get worse if not referring to a doctor after a few months indicating a more extensive injury even a skull frac￭ ture particularly if the area around both eyes is bru￭ ised rac￭ co￭ on eyes or if there has been a prior head injury
basi￭ l￭ ar skull frac￭ ture
a basi￭ l￭ ar skull frac￭ ture or bas￭ al skull frac￭ ture is a frac￭ ture of the base of the skull typically involving the temporal bone oc￭ ci￭ p￭ ital bone sp￭ hen￭ o￭ id bone and or eth￭ mo￭ id bone this type of frac￭ ture is rare occurring as the only frac￭ ture in just 4 of severe head injury patients
a basi￭ l￭ ar skull frac￭ ture or bas￭ al skull frac￭ ture is a frac￭ ture of the base of the skull typically involving the temporal bone oc￭ ci￭ p￭ ital bone sp￭ hen￭ o￭ id bone and or eth￭ mo￭ id bone this type of frac￭ ture is rare occurring as the only frac￭ ture in just 4 of severe head injury patients such fractu￭ res can cause tears in the memb￭ ran￭ es surrounding the brain or men￭ inges with resultant leakage of the cere￭ bro￭ spinal fluid c￭ sf the le￭ aking fluid may accumulate in the middle ear space and dri￭ bble out through a per￭ for￭ ated ear￭ drum c￭ sf o￭ tor￭ rhe￭ a or into the nas￭ op￭ har￭ yn￭ x via the eu￭ st￭ achi￭ an tube causing a sal￭ ty taste c￭ sf may also drip from the nose c￭ sf rhin￭ or￭ rhe￭ a in fractu￭ res of the an￭ terior skull base yielding a hal￭ o sign these signs are characteristic for basi￭ l￭ ar skull fractu￭ res
nas￭ al frac￭ ture
a nas￭ al frac￭ ture commonly referred to as a broken nose is a frac￭ ture of one of the bones of the nose because of the pro￭ tru￭ sion of the nose from the face and the fragility of the bones of the nose a broken nose is one of the most common facial injuries comprising almost 40 of all facial injuries
orb￭ ital blow￭ out frac￭ ture
an orb￭ ital blow￭ out frac￭ ture is a traumatic de￭ form￭ ity of the orb￭ ital floor or medi￭ al wall typically resulting from impact of a blunt object larger than the orb￭ ital aper￭ ture or eye socket there are two broad categories of blow￭ out fractu￭ res open door which are large displaced and comm￭ in￭ u￭ ted and tr￭ ap￭ door which are linear h￭ ing￭ ed and minim￭ ally displaced they are characterized by double vision sun￭ ken oc￭ ular glob￭ es and loss of sensation of the cheek and upper g￭ ums due to infra￭ orb￭ ital nerve injury
an orb￭ ital blow￭ out frac￭ ture is a traumatic de￭ form￭ ity of the orb￭ ital floor or medi￭ al wall typically resulting from impact of a blunt object larger than the orb￭ ital aper￭ ture or eye socket there are two broad categories of blow￭ out fractu￭ res open door which are large displaced and comm￭ in￭ u￭ ted and tr￭ ap￭ door which are linear h￭ ing￭ ed and minim￭ ally displaced they are characterized by double vision sun￭ ken oc￭ ular glob￭ es and loss of sensation of the cheek and upper g￭ ums due to infra￭ orb￭ ital nerve injury in pure orb￭ ital blow￭ out fractu￭ res the orb￭ ital rim the most an￭ terior bon￭ y margin of the orbit is preserved while with imp￭ ure fractu￭ res the orb￭ ital rim is also injured with the tr￭ ap￭ door variant there is a high frequency of extra oc￭ ular muscle entr￭ ap￭ ment despite minimal signs of external trauma a phenomenon referred to as a white eyed orb￭ ital blow￭ out frac￭ ture they can occur with other injuries such as trans￭ facial le fort fractu￭ res or zy￭ gom￭ ati￭ com￭ ax￭ ill￭ ary complex fractu￭ res the most common causes are assault and motor vehicle accidents in children the tr￭ ap￭ door subtype are more common reconstruction is usually performed with a titanium mesh or por￭ ous polyethylene through a trans￭ con￭ junc￭ ti￭ val or sub￭ ci￭ li￭ ary inc￭ ision more recently there has been success with endo￭ scopic or minim￭ ally invasive approaches
man￭ di￭ bul￭ ar frac￭ ture
man￭ di￭ bul￭ ar frac￭ ture also known as frac￭ ture of the jaw is a break through the man￭ di￭ bul￭ ar bone in about 60 of cases the break occurs in two places it may result in a decreased ability to fully open the mouth often the teeth will not feel properly aligned or there may be bleeding of the g￭ ums man￭ di￭ bul￭ ar fractu￭ res occur most commonly among males in their 30 s
traumatic brain injury
traumatic brain injury t￭ bi also known as in￭ trac￭ ran￭ ial injury occurs when an external force trau￭ m￭ atically inj￭ ures the brain t￭ bi can be classified based on severity mechanism closed or penetr￭ ating head injury or other features e g occurring in a specific location or over a widespread area head injury usually refers to t￭ bi but is a broader category because it can involve damage to structures other than the brain such as the scal￭ p and skull
jefferson frac￭ ture
whi￭ pl￭ ash medicine
whi￭ pl￭ ash is a non medical term describing a range of injuries to the neck caused by or related to a sudden distortion of the neck associated with extension although the exact injury mechanisms remain unknown the term whi￭ pl￭ ash is a col￭ lo￭ qui￭ alism cer￭ vic￭ al acceleration – dec￭ el￭ eration cad describes the mechanism of the injury while the term whi￭ pl￭ ash associated disorders w￭ ad describes the injury sequ￭ el￭ ae and symptoms
whi￭ pl￭ ash is a non medical term describing a range of injuries to the neck caused by or related to a sudden distortion of the neck associated with extension although the exact injury mechanisms remain unknown the term whi￭ pl￭ ash is a col￭ lo￭ qui￭ alism cer￭ vic￭ al acceleration – dec￭ el￭ eration cad describes the mechanism of the injury while the term whi￭ pl￭ ash associated disorders w￭ ad describes the injury sequ￭ el￭ ae and symptoms whi￭ pl￭ ash is commonly associated with motor vehicle accidents usually when the vehicle has been hit in the rear however the injury can be sustained in many other ways including head￭ banging bun￭ gee jumping and falls it is one of the main injuries covered by insurance in the united kingdom 430 000 people made an insurance claim for whi￭ pl￭ ash in 2007 accounting for 14 of every driver s premium before the invention of the car whi￭ pl￭ ash injuries were called railway sp￭ ine as they were noted mostly in connection with train collis￭ ions the first case of severe neck pain arising from a train collision was documented around 19￭ 19 the number of whi￭ pl￭ ash injuries has since risen sharply due to rear end motor vehicle collis￭ ions given the wide variety of symptoms associated with whi￭ pl￭ ash injuries the qu￭ eb￭ ec task force on whi￭ pl￭ ash associated disorders coined the phrase whi￭ pl￭ ash associated disorders
dec￭ ap￭ itation
dec￭ ap￭ itation from latin cap￭ ut cap￭ i￭ tis meaning head is the complete separation of the head from the body in humans and most other animals death will always result from such an injury since sever￭ ing the head deprives all other organs of the involuntary functions that are essential for the body to function while the brain itself is deprived of oxy￭ genated blood
chest injury
ri￭ b frac￭ ture
a ri￭ b frac￭ ture is a break or frac￭ ture in one or more of the bones making up the ri￭ b cage fractu￭ res of the first and second ribs may be more likely to be associated with head and facial injuries than other ri￭ b fractu￭ res the middle ribs are the ones most commonly fractu￭ red fractu￭ res usually occur from direct blows or from indirect crushing injuries a ri￭ b frac￭ ture has the complic￭ ation of potentially causing a pul￭ mon￭ ary con￭ tu￭ sion ri￭ b fractu￭ res are usually quite painful because the ribs have to move to allow for breathing when several ribs are broken in several places a fl￭ ail chest results and the detached bone sections will move separately from the rest of the chest
fl￭ ail chest
fl￭ ail chest is a life threatening medical condition that occurs when a segment of the ri￭ b cage breaks due to trauma and becomes detached from the rest of the chest wall two of the symptoms of fl￭ ail chest are chest pain and short￭ ness of breath fl￭ ail chest is usually accompanied by a pul￭ mon￭ ary con￭ tu￭ sion a bru￭ ise of the lung tissue that can interfere with blood oxy￭ gen￭ ation often it is the con￭ tu￭ sion not the fl￭ ail segment that is the main cause of respiratory problems in people with both injuries surgery to fix the fractu￭ res appears to result in better outcomes
commo￭ tio cord￭ is
commo￭ tio cord￭ is latin ag￭ itation of the heart is an often lethal disruption of heart rhythm that occurs as a result of a blow to the area directly over the heart the pre￭ cor￭ dial region at a critical time during the cycle of a heart beat causing cardiac arrest it is a form of ven￭ tric￭ ular fi￭ bri￭ ll￭ ation v fi￭ b not mechanical damage to the heart muscle or surrounding organs and not the result of heart disease the fat￭ ality rate is about 65 it can sometimes but not always be reversed by defi￭ bri￭ ll￭ ation
commo￭ tio cord￭ is latin ag￭ itation of the heart is an often lethal disruption of heart rhythm that occurs as a result of a blow to the area directly over the heart the pre￭ cor￭ dial region at a critical time during the cycle of a heart beat causing cardiac arrest it is a form of ven￭ tric￭ ular fi￭ bri￭ ll￭ ation v fi￭ b not mechanical damage to the heart muscle or surrounding organs and not the result of heart disease the fat￭ ality rate is about 65 it can sometimes but not always be reversed by defi￭ bri￭ ll￭ ation commo￭ tio cord￭ is occurs mostly in boys and young men average age 15 usually during sports most often baseball often despite a chest protector it is most often caused by a projec￭ tile but can also be caused by the blow of an el￭ bow or other body part being less developed the thor￭ ax of an adoles￭ cent is likely more prone to this injury given the circumstances the phenomenon was confirmed experim￭ entally in the 1930 s with research in ana￭ esthe￭ tized rabbits cats and dogs
pul￭ mon￭ ary con￭ tu￭ sion
a pul￭ mon￭ ary con￭ tu￭ sion or lung con￭ tu￭ sion is a con￭ tu￭ sion bru￭ ise of the lung caused by chest trauma as a result of damage to cap￭ il￭ lar￭ ies blood and other fluids accumulate in the lung tissue the excess fluid interferes with gas exchange potentially leading to inadequate oxygen levels hypo￭ x￭ ia unlike pul￭ mon￭ ary lac￭ eration another type of lung injury pul￭ mon￭ ary con￭ tu￭ sion does not involve a cut or tear of the lung tissue
di￭ aphr￭ agm￭ atic rupture
di￭ aphr￭ agm￭ atic rupture also called di￭ aphr￭ agm￭ atic injury or tear is a tear of the di￭ aphr￭ ag￭ m the muscle across the bottom of the rib￭ cage that plays a crucial role in respir￭ ation most commonly acquired di￭ aphr￭ agm￭ atic tears result from physical trauma di￭ aphr￭ agm￭ atic rupture can result from blunt or penetr￭ ating trauma and occurs in about 5 of cases of severe blunt trauma to the trunk
ab￭ domin￭ al trauma
ab￭ domin￭ al trauma is an injury to the ab￭ dom￭ en it may be blunt or penetr￭ ating and may involve damage to the ab￭ domin￭ al organs signs and symptoms include ab￭ domin￭ al pain tender￭ ness rigidity and bru￭ ising of the external ab￭ dom￭ en ab￭ domin￭ al trauma presents a risk of severe blood loss and infection diagnosis may involve ul￭ tras￭ ono￭ graphy compu￭ ted tom￭ o￭ graphy and per￭ it￭ one￭ al lav￭ age and treatment may involve surgery injury to the lower chest may cause splen￭ ic or liver injuries
ace￭ tab￭ ular frac￭ ture
fractu￭ res of the ace￭ tab￭ ul￭ um occur when the head of the fem￭ ur is driven into the pel￭ vis this is caused either by a blow on the side or by a blow in the front of the knee usually in a d￭ ash￭ board injury when the fem￭ ur also may be fractu￭ red ace￭ tab￭ ul￭ um in latin means a cup that holds vin￭ eg￭ ar collins english dic￭ tionary it is a cav￭ ity situated on the outer surface of in￭ nominate bone in￭ nominate bone is con￭ flu￭ ence of 3 bones the ili￭ um is￭ chi￭ um and pu￭ bis ace￭ tab￭ ul￭ um and ball of fem￭ ur form the hip joint
splen￭ ic injury
a splen￭ ic injury which includes a rup￭ tured sp￭ leen is any injury to the sp￭ leen the rupture of a normal sp￭ leen can be caused by trauma such as a traffic collision
cla￭ vic￭ le frac￭ ture
a cla￭ vic￭ le frac￭ ture is a bone frac￭ ture in the cla￭ vic￭ le or col￭ lar￭ bone it is often caused by a fall onto an out￭ stretched upper extre￭ mity a fall onto a shoulder or a direct blow to the cla￭ vic￭ le many research projects are underway regarding the medical healing process of cla￭ vic￭ le fractu￭ res
dis￭ located shoulder
a dis￭ located shoulder occurs when the hum￭ er￭ us separates from the s￭ cap￭ ula at the shoulder joint glen￭ o￭ hum￭ eral joint the shoulder joint has the greatest range of motion of any joint at the cost of low joint stability and it is therefore particularly susceptible to su￭ blu￭ x￭ ation partial dis￭ location and dis￭ location approximately half of major joint dis￭ locations seen in emergency departments involve the shoulder
separated shoulder
a separated shoulder also known as acro￭ mi￭ o￭ cla￭ vic￭ ular separation ac separation is a common injury to the acro￭ mi￭ o￭ cla￭ vic￭ ular joint it is a joint dis￭ location but it is not called a dis￭ located shoulder as that term refers to a glen￭ o￭ hum￭ eral joint shoulder joint dis￭ location the ac joint is located at the dis￭ tal end of the cla￭ vic￭ le known as the acro￭ mi￭ al end and attaches to the acro￭ m￭ ion of the s￭ cap￭ ula although this is part of the shoulder a dis￭ located shoulder and a separated shoulder are completely different acro￭ mi￭ o￭ cla￭ vic￭ ular separation occurs as a result of a downward force being applied to the superior part of the acro￭ m￭ ion either by something striking the top of the acro￭ m￭ ion or by falling directly on it the injury is more likely to occur if the shoulder is struck with the hand o
nur￭ sem￭ aid s el￭ bow
s￭ cap￭ ho￭ id frac￭ ture
a s￭ cap￭ ho￭ id frac￭ ture a frac￭ ture of the s￭ cap￭ ho￭ id bone also known as the car￭ pal na￭ vic￭ ular is the most common type of car￭ pal bone frac￭ ture s￭ cap￭ ho￭ id fractu￭ res usually cause pain at the base of the thumb accompanied by sw￭ elling in the same area s￭ cap￭ ho￭ id fractu￭ res usually cause pain and sensitivity to pal￭ p￭ ation in the an￭ atomic snu￭ ff￭ box at the base of the thumb accompanied by sw￭ elling in the same area these are also called na￭ vic￭ ular fractu￭ res the s￭ cap￭ ho￭ id also being called the car￭ pal na￭ vic￭ ular as na￭ vic￭ ular is the traditional name for the s￭ cap￭ ho￭ id bone although this can be confused with the na￭ vic￭ ular bone in the foot treatment depends on the location of the frac￭ ture
ben￭ nett s frac￭ ture
ben￭ nett frac￭ ture is a frac￭ ture of the base of the first me￭ tac￭ ar￭ pal bone which extends into the car￭ po￭ me￭ tac￭ ar￭ pal c￭ mc joint this intra artic￭ ular frac￭ ture is the most common type of frac￭ ture of the thumb and is nearly always accompanied by some degree of su￭ blu￭ x￭ ation or frank dis￭ location of the car￭ po￭ me￭ tac￭ ar￭ pal joint
pat￭ ell￭ ar tend￭ on rupture
pat￭ ell￭ ar tend￭ on rupture is a rupture of the tend￭ on that connects the pat￭ ella to the ti￭ bia the superior portion of the pat￭ ell￭ ar tend￭ on attaches on the poster￭ ior portion of the pat￭ ella and the poster￭ ior portion of the pat￭ ella tend￭ on attaches to the ti￭ bial tuber￭ cle on the front of the ti￭ bia above the pat￭ ella are the quad￭ ric￭ eps muscle large muscles on the front of the thi￭ gh the quad￭ ric￭ eps tend￭ on attaches to the top of the pat￭ ella this structure allows the knee to flex and extend allowing use of basic functions such as walking and running
unhappy tri￭ ad
an unhappy tri￭ ad or terrible tri￭ ad horrible triangle o don￭ o￭ gh￭ ue s tri￭ ad or a blown knee is an injury to the an￭ terior cruci￭ ate lig￭ ament medi￭ al collateral lig￭ ament and the medi￭ al men￭ is￭ cus the tri￭ ad refers to a complete or partial tear of the an￭ terior cruci￭ ate lig￭ ament medi￭ al collateral lig￭ ament and the medi￭ al men￭ is￭ cus originally the unhappy tri￭ ad included the medi￭ al men￭ is￭ cus and not the lateral men￭ is￭ cus however during the 1990 s analysis indicated that the classic o don￭ o￭ gh￭ ue tri￭ ad is actually an unusual clinical entity among athletes with knee injuries some authors mistakenly believe that in this type of injury acute tears of the medi￭ al men￭ is￭ cus always present with a concomitant lateral men￭ is￭ cus injury however the lateral men￭ is￭ cus tears are more common than medi￭ al men
an unhappy tri￭ ad or terrible tri￭ ad horrible triangle o don￭ o￭ gh￭ ue s tri￭ ad or a blown knee is an injury to the an￭ terior cruci￭ ate lig￭ ament medi￭ al collateral lig￭ ament and the medi￭ al men￭ is￭ cus the tri￭ ad refers to a complete or partial tear of the an￭ terior cruci￭ ate lig￭ ament medi￭ al collateral lig￭ ament and the medi￭ al men￭ is￭ cus originally the unhappy tri￭ ad included the medi￭ al men￭ is￭ cus and not the lateral men￭ is￭ cus however during the 1990 s analysis indicated that the classic o don￭ o￭ gh￭ ue tri￭ ad is actually an unusual clinical entity among athletes with knee injuries some authors mistakenly believe that in this type of injury acute tears of the medi￭ al men￭ is￭ cus always present with a concomitant lateral men￭ is￭ cus injury however the lateral men￭ is￭ cus tears are more common than medi￭ al men￭ is￭ cus tears in conjunction with spra￭ ins of the ac￭ l according to the 1990 s study
achilles tend￭ on rupture
achilles tend￭ on rupture is when the achilles tend￭ on breaks the achilles is the most commonly injured tend￭ on rupture can occur while performing actions requiring explosive acceleration such as pushing off or jumping the male to female ratio for achilles tend￭ on rupture varies between 7 1 and 4 1 across various studies
jones frac￭ ture
spra￭ ined an￭ kle
a spra￭ ined an￭ kle also known as an an￭ kle sp￭ rain twisted an￭ kle rolled an￭ kle fl￭ op￭ py an￭ kle or just an￭ kle injury is a common injury where sp￭ rain occur on one or more lig￭ aments of the an￭ kle
bone frac￭ ture
a bone frac￭ ture sometimes abbreviated fr￭ x or f￭ x f￭ x or is a medical condition in which there is a damage in the continuity of the bone a bone frac￭ ture can be the result of high force impact or stress or a minimal trauma injury as a result of certain medical conditions that weaken the bones such as o￭ ste￭ op￭ or￭ osis bone cancer or o￭ ste￭ o￭ genesis im￭ perfec￭ ta where the frac￭ ture is then properly termed a patho￭ logic frac￭ ture although broken bone and bone break are common col￭ lo￭ qui￭ alis￭ ms for a bone frac￭ ture break is not a formal orth￭ o￭ ped￭ ic term
bl￭ ister
a bl￭ ister is a small pocket of lymp￭ h within the upper layers of the skin typically caused by forceful rub￭ bing friction burning freezing chemical exposure or infection most bl￭ is￭ ters are filled with a clear fluid either serum or plasma however bl￭ is￭ ters can be filled with blood known as blood bl￭ is￭ ters or with p￭ us if they become infected
wound
a wound is a type of injury which happens relatively quickly in which skin is torn cut or punc￭ tured an open wound or where blunt force trauma causes a con￭ tu￭ sion a closed wound in path￭ ology it specifically refers to a sharp injury which damages the der￭ mis of the skin
animal bite
an animal bite is a wound usually lac￭ er￭ ations caused by the teeth an animal bite usually results in a break in the skin but also includes con￭ tu￭ sions from the excessive pressure on body tissue from the bite the con￭ tu￭ sions can occur without a break in the skin bites can be provoked or un￭ provoked other bite attacks may be apparently un￭ provoked biting is a physical action not only describing an attack but it is a normal response in an animal as it eats carries objects sof￭ tens and prepares food for its young removes ec￭ top￭ ar￭ as￭ ites from its body surface removes plant seeds attached to its fur or hair scrat￭ ching itself and gro￭ oming other animals animal bites often result in serious infections and mortality animal bites not only include injuries from the teeth of repti￭ les mammals b
an animal bite is a wound usually lac￭ er￭ ations caused by the teeth an animal bite usually results in a break in the skin but also includes con￭ tu￭ sions from the excessive pressure on body tissue from the bite the con￭ tu￭ sions can occur without a break in the skin bites can be provoked or un￭ provoked other bite attacks may be apparently un￭ provoked biting is a physical action not only describing an attack but it is a normal response in an animal as it eats carries objects sof￭ tens and prepares food for its young removes ec￭ top￭ ar￭ as￭ ites from its body surface removes plant seeds attached to its fur or hair scrat￭ ching itself and gro￭ oming other animals animal bites often result in serious infections and mortality animal bites not only include injuries from the teeth of repti￭ les mammals but fish and am￭ phi￭ bians ar￭ thro￭ pods can also bite and leave injuries
insect bites and st￭ ings
insect bites and st￭ ings occur when an insect is ag￭ itated and seeks to defend itself through its natural defense mechanisms or when an insect seeks to feed off the bit￭ ten person some insects inject form￭ ic acid which can cause an immediate skin reaction often resulting in red￭ ness and sw￭ elling in the injured area st￭ ings from fire ants bees was￭ ps and hor￭ nets are usually painful and may stimulate a dangerous allergic reaction called an￭ ap￭ hy￭ lax￭ is for at risk patients and some was￭ ps can also have a powerful bite along with a sting bites from mosquitoes and fle￭ as are more likely to cause it￭ ching than pain
insect bites and st￭ ings occur when an insect is ag￭ itated and seeks to defend itself through its natural defense mechanisms or when an insect seeks to feed off the bit￭ ten person some insects inject form￭ ic acid which can cause an immediate skin reaction often resulting in red￭ ness and sw￭ elling in the injured area st￭ ings from fire ants bees was￭ ps and hor￭ nets are usually painful and may stimulate a dangerous allergic reaction called an￭ ap￭ hy￭ lax￭ is for at risk patients and some was￭ ps can also have a powerful bite along with a sting bites from mosquitoes and fle￭ as are more likely to cause it￭ ching than pain the skin reaction to insect bites and st￭ ings usually lasts for up to a few days however in some cases the local reaction can last for up to two years these bites are sometimes mis￭ diagnosed as other types of benign or can￭ cer￭ ous le￭ sions
sp￭ rain
joint dis￭ location
a joint dis￭ location also called lux￭ ation occurs when there is an abnormal separation in the joint where two or more bones meet a partial dis￭ location is referred to as a su￭ blu￭ x￭ ation dis￭ locations are often caused by sudden trauma on the joint like an impact or fall a joint dis￭ location can cause damage to the surrounding lig￭ aments tend￭ ons muscles and nerves dis￭ locations can occur in any joint major shoulder knees etc or minor toes fingers etc the most common joint dis￭ location is a shoulder dis￭ location
a joint dis￭ location also called lux￭ ation occurs when there is an abnormal separation in the joint where two or more bones meet a partial dis￭ location is referred to as a su￭ blu￭ x￭ ation dis￭ locations are often caused by sudden trauma on the joint like an impact or fall a joint dis￭ location can cause damage to the surrounding lig￭ aments tend￭ ons muscles and nerves dis￭ locations can occur in any joint major shoulder knees etc or minor toes fingers etc the most common joint dis￭ location is a shoulder dis￭ location treatment for joint dis￭ location is usually by closed reduction that is skilled manipulation to return the bones to their normal position reduction should be done only by trained people because it can cause injury
ampu￭ tation
ampu￭ tation is the removal of a limb by trauma medical illness or surgery as a surgical measure it is used to control pain or a disease process in the affected limb such as m￭ align￭ ancy or gang￭ rene in some cases it is carried out on individuals as a preventative surgery for such problems a special case is that of con￭ genital ampu￭ tation a con￭ genital disorder where fe￭ tal limbs have been cut off by con￭ stric￭ tive bands in some countries ampu￭ tation of the hands feet or other body parts is or was used as a form of punishment for people who committed crimes ampu￭ tation has also been used as a tactic in war and acts of terrorism it may also occur as a war injury in some cultures and religions minor ampu￭ tations or mutil￭ ations are considered a ritual accomplishment unlike some non mamm￭ al
foreign body
a foreign body or sometimes known as f￭ b latin corpus alien￭ um is any object originating outside the body in machinery it can mean any unwanted intru￭ ding object most references to foreign bodies involve propulsion through natural ori￭ fic￭ es into hollow organs foreign bodies can be inert or irritating if they irrit￭ ate they will cause infl￭ amm￭ ation and scar￭ ring they can bring infection into the body or acquire infectious agents and protect them from the body s immune defenses they can obstruct pass￭ age￭ ways either by their size or by the scar￭ ring they cause some can be toxic
be￭ zo￭ ar
foreign body in alim￭ entary tract
one of the most common locations for a foreign body is the alim￭ entary tract it is possible for foreign bodies to enter the tract from the mouth or from the rec￭ tum the objects most commonly swallowed by children are coins meat imp￭ action is more common in adults swallowed objects are more likely to lodge in the es￭ op￭ ha￭ gus or stomach than in the phar￭ yn￭ x or du￭ o￭ den￭ um
rec￭ tal foreign body
burn
a burn is a type of injury to skin or other tissues caused by heat cold electricity chemicals friction or radiation most burns are due to heat from hot liquids soli￭ ds or fire females in many areas of the world have a higher risk related to the more frequent use of open cooking fires or unsafe cook sto￭ ves alcoholism and smoking are other risk factors burns can also occur as a result of self harm or violence between people
a burn is a type of injury to skin or other tissues caused by heat cold electricity chemicals friction or radiation most burns are due to heat from hot liquids soli￭ ds or fire females in many areas of the world have a higher risk related to the more frequent use of open cooking fires or unsafe cook sto￭ ves alcoholism and smoking are other risk factors burns can also occur as a result of self harm or violence between people burns that affect only the superficial skin layers are known as superficial or first degree burns they appear red without bl￭ is￭ ters and pain typically lasts around three days when the injury extends into some of the underlying skin layer it is a partial thickness or second degree burn bl￭ is￭ ters are frequently present and they are often very painful healing can require up to eight weeks and scar￭ ring may occur in a full thickness or third degree burn the injury extends to all layers of the skin often there is no pain and the burn area is stiff healing typically does not occur on its own a fourth degree burn additionally involves injury to deeper tissues such as muscle tend￭ ons or bone the burn is often black and frequently leads to loss of the burned part burns are generally preventable treatment depends on the severity of the burn superficial burns may be managed with little more than simple pain medication while major burns may require prolonged treatment in specialized burn centers cooling with tap water may help pain and decrease damage however prolonged cooling may result in low body temperature partial thickness burns may require cleaning with soap and water followed by dres￭ sings it is not clear how to manage bl￭ is￭ ters but it is probably reasonable to leave them intact if small and drain them if large full thickness burns usually require surgical treatments such as skin graf￭ ting extensive burns often require large amounts of intra￭ ven￭ ous fluid due to cap￭ ill￭ ary fluid leakage and tissue sw￭ elling the most common complications of burns involve infection te￭ tan￭ us tox￭ o￭ id should be given if not up to date in 2013 fire and heat resulted in 35 million injuries this resulted in about 2 9 million hosp￭ itali￭ zations and 238 000 dying most deaths due to burns occur in the developing world particularly in southeast asia while large burns can be fatal treatments developed since 1960 have improved outcomes especially in children and young adults in the united states approximately 96 of those admitted to a burn center survive their injuries burns occur at similar frequencies in men and women the long term outcome is related to the size of burn and the age of the person affected
chemical burn
a chemical burn occurs when living tissue is exposed to a corrosive substance such as a strong acid or base chemical burns follow standard burn classification and may cause extensive tissue damage the main types of irrit￭ ant and or corrosive products are acids bases ox￭ idi￭ zers reducing agents solvents and al￭ k￭ yl￭ ants additionally chemical burns can be caused by some types of chemical weapons e g ves￭ ic￭ ants such as mustard gas and le￭ wis￭ ite or ur￭ tic￭ ants such as pho￭ s￭ gene ox￭ im￭ e chemical burns may
fro￭ st￭ bite
fro￭ st￭ bite or cold burn is the medical condition in which loc￭ alized damage is caused to skin and other tissues due to freezing fro￭ st￭ bite is most likely to happen in body parts far￭ thest from the heart and those with large exposed areas the initial stages of fro￭ st￭ bite are sometimes called fro￭ st￭ nip
lead poisoning
lead poisoning is a type of metal poisoning caused by lead in the body the brain is the most sensitive symptoms may include ab￭ domin￭ al pain con￭ sti￭ p￭ ation headaches irrit￭ ability memory problems inability to have children and ting￭ ling in the hands and feet it causes almost 10 of intellectual disability of otherwise unknown cause and can result in behavioral problems some of the effects are permanent in severe cases an￭ emia seizures coma or death may occur
lead poisoning is a type of metal poisoning caused by lead in the body the brain is the most sensitive symptoms may include ab￭ domin￭ al pain con￭ sti￭ p￭ ation headaches irrit￭ ability memory problems inability to have children and ting￭ ling in the hands and feet it causes almost 10 of intellectual disability of otherwise unknown cause and can result in behavioral problems some of the effects are permanent in severe cases an￭ emia seizures coma or death may occur exposure to lead can occur by contaminated air water dust food or consumer products children are at greater risk as they are more likely to put objects in their mouth such as those that contain lead paint and absorb a greater proportion of the lead that they do eat exposure at work is a common cause of lead poisoning in adults with certain occupations at particular risk diagnosis is typically by measurement of the blood lead level the centers for disease control us has set the upper limit for blood lead for adults at 10 µ￭ g dl 10 µ￭ g 100 g and for children at 5 µ￭ g dl elevated lead may also be detected by changes in red blood cells or dense lines in the bones of children as seen on x ray lead poisoning is preventable this includes by individual efforts such as removing lead containing items from the home workplace efforts such as improved ventilation and monitoring and nationwide policies such as laws that ban lead in products such as paint and gasoline reduce allowable levels in water or soil and provide for clean￭ up of contaminated soil the major treatments are removal of the source of lead and the use of medications that bind lead so it can be eliminated from the body known as chel￭ ation therapy chel￭ ation therapy in children is recommended when blood levels are greater than 40 45 u￭ g dl medications used include di￭ mer￭ ca￭ pro￭ l e￭ det￭ ate calcium dis￭ o￭ dium and suc￭ ci￭ mer in 2013 lead is believed to have resulted in 853 000 deaths it occurs most commonly in the developing world those who are poor are at greater risk lead is believed to result in 0 6 of the world s disease burden people have been mining and using lead for thousands of years descriptions of lead poisoning date to at least 2000 bc while efforts to limit leads use date back to at least the 1500 s concerns for low levels of exposure begin in the 1970 s with there being no safe threshold for lead exposure
mercury poisoning
mercury poisoning also known as hydr￭ arg￭ y￭ ria or mercur￭ i￭ alism is a type of metal poisoning a medical condition caused by exposure to mercury or its compounds mercury chemical symbol h￭ g is a heavy metal occurring in several forms all of these except elem￭ ental liquid mercury for which intra￭ ven￭ ous injection of a certain volume is required produce toxicity or death with less than a gram the damage done by elem￭ ental mercury is caused by blocking blood vessels mercury s zero oxid￭ ation state h￭ g 0 exists as vap￭ or or as liquid metal its mer￭ cu￭ rous state h￭ g exists as in￭ organic salts and its mercur￭ ic state h￭ g 2 may form either in￭ organic salts or organ￭ om￭ er￭ cur￭ y compounds the three groups vary in effects toxic effects include damage to the brain kidneys and lungs mercury poisoning c
mercury poisoning also known as hydr￭ arg￭ y￭ ria or mercur￭ i￭ alism is a type of metal poisoning a medical condition caused by exposure to mercury or its compounds mercury chemical symbol h￭ g is a heavy metal occurring in several forms all of these except elem￭ ental liquid mercury for which intra￭ ven￭ ous injection of a certain volume is required produce toxicity or death with less than a gram the damage done by elem￭ ental mercury is caused by blocking blood vessels mercury s zero oxid￭ ation state h￭ g 0 exists as vap￭ or or as liquid metal its mer￭ cu￭ rous state h￭ g exists as in￭ organic salts and its mercur￭ ic state h￭ g 2 may form either in￭ organic salts or organ￭ om￭ er￭ cur￭ y compounds the three groups vary in effects toxic effects include damage to the brain kidneys and lungs mercury poisoning can result in several diseases including acro￭ dy￭ nia pink disease hunter russell syndrome and min￭ am￭ ata disease symptoms typically include sensory impairment vision hearing speech disturbed sensation and a lack of coordination the type and degree of symptoms exhi￭ bited depend upon the individual toxin the dose and the method and duration of exposure
min￭ am￭ ata disease
min￭ am￭ ata disease japanese 水￭ 俣￭ 病 he￭ p￭ burn min￭ am￭ ata by￭ ō sometimes referred to as chis￭ so min￭ am￭ ata disease チ￭ ッ￭ ソ￭ 水￭ 俣￭ 病 chis￭ so min￭ am￭ ata by￭ ō is a neuro￭ logical syndrome caused by severe mercury poisoning symptoms include at￭ ax￭ ia num￭ b￭ ness in the hands and feet general muscle weakness loss of peripheral vision and damage to hearing and speech in extreme cases insan￭ ity paralysis coma and death follow within weeks of the onset of symptoms a con￭ genital form of the disease can also affect fet￭ uses in the wom￭ b
mad hat￭ ter disease
mad hat￭ ter disease or mad hat￭ ter syndrome was an occupational disease among hat￭ makers caused by chronic mercury poisoning it affected those whose fel￭ ting work involved prolonged exposure to mercury vap￭ ors the neuro￭ toxic effects included trem￭ or and the pathological sh￭ y￭ ness and irrit￭ ability characteristic of ere￭ th￭ ism although lewis car￭ roll s icon￭ ic mad hat￭ ter character in alice s adventures in wonder￭ land has often been linked to the occupational hazards of hat￭ making it is thought that the character was directly inspired by the ec￭ centric furniture dealer the￭ oph￭ il￭ us carter
ere￭ th￭ ism
ere￭ th￭ ism or ere￭ th￭ ism mercur￭ i￭ alis is a neuro￭ logical disorder which affects the whole central nervous system as well as a symptom complex derived from mercury poisoning this is also sometimes known as the mad hat￭ ter disease historically this was common among old england felt hat￭ makers who used mercury to stabilize the wool in a process called fel￭ ting where hair was cut from a pel￭ t of an animal such as a rabbit the industrial workers were exposed to the mercury vap￭ ors giving rise to the expression “ mad as a hat￭ ter ” some believe that the character the mad hat￭ ter in lewis car￭ roll s alice in wonder￭ land is an example of someone suffering from ere￭ th￭ ism but the origin of this account is unclear the character was almost certainly based on the￭ oph￭ il￭ us carter an ec￭ centric furniture dealer wh
ere￭ th￭ ism or ere￭ th￭ ism mercur￭ i￭ alis is a neuro￭ logical disorder which affects the whole central nervous system as well as a symptom complex derived from mercury poisoning this is also sometimes known as the mad hat￭ ter disease historically this was common among old england felt hat￭ makers who used mercury to stabilize the wool in a process called fel￭ ting where hair was cut from a pel￭ t of an animal such as a rabbit the industrial workers were exposed to the mercury vap￭ ors giving rise to the expression “ mad as a hat￭ ter ” some believe that the character the mad hat￭ ter in lewis car￭ roll s alice in wonder￭ land is an example of someone suffering from ere￭ th￭ ism but the origin of this account is unclear the character was almost certainly based on the￭ oph￭ il￭ us carter an ec￭ centric furniture dealer who was well known to car￭ roll it is commonly characterized through behavioral changes such as irrit￭ ability low self confidence depression apathy sh￭ y￭ ness and ti￭ mid￭ ity and in some extreme cases with prolonged exposure to mercury vap￭ ors deli￭ ri￭ um personality changes and memory loss occur as a result people with ere￭ th￭ ism find it difficult to interact socially with others with behaviors similar to that of a social pho￭ bia although most of the effects of ere￭ th￭ ism are neuro￭ logical some physical problems arise as well including a decrease in physical strength “ headaches general pain and tre￭ mors after exposure to metallic mercury ” as well as irregular heartbeat it has been documented that “ the trem￭ or in the hands can be so severe that the victim is unable to hold a glass of water without spilling its contents ” the primary risk factor for ere￭ th￭ ism is long term exposure to mercury vap￭ ors and g￭ asses at high levels one group at risk for mercury poisoning is industrial workers and those exposed to high levels of mercury residing naturally in the environment ere￭ th￭ ism is not as serious an issue as it was back before acceptable working condition regulations were enforced preventing mercury levels from getting too high limits the amount available for inhal￭ ation there is a risk of mercury poisoning in the home in some cases exposure to mercury vap￭ or may stem from cultural and religious reasons where mercury is sprink￭ led on the floor of a home or car burned in a candle or mixed with perfume due to widespread use and popular concern the risk of toxicity from dental am￭ alg￭ am has been exhaus￭ tively investigated to date no convincing evidence of toxicity has been found one treatment of mercury poisoning was to admit fresh air to the patient by having him go outside daily as much as possible stimul￭ ants such as ammonia have also been documented to help restore pulse to a normal rhythm for a more comprehensive reading of treatment see mercury poisoning treatment section
arg￭ y￭ ria
arg￭ y￭ ria or arg￭ yro￭ sis from ancient greek ἄ￭ ργ￭ υ￭ ρο￭ ς arg￭ y￭ ros silver is a condition caused by inappropriate exposure to chemical compounds of the element silver or to silver dust the most dramatic symptom of arg￭ y￭ ria is that the skin turns blue or blu￭ ish grey it may take the form of generalized arg￭ y￭ ria or local arg￭ y￭ ria generalized arg￭ y￭ ria affects large areas over much of the visible surface of the body local arg￭ y￭ ria shows in limited regions of the body such as pat￭ ches of skin parts of the mu￭ co￭ us memb￭ rane or the con￭ junc￭ tiva
arg￭ y￭ ria or arg￭ yro￭ sis from ancient greek ἄ￭ ργ￭ υ￭ ρο￭ ς arg￭ y￭ ros silver is a condition caused by inappropriate exposure to chemical compounds of the element silver or to silver dust the most dramatic symptom of arg￭ y￭ ria is that the skin turns blue or blu￭ ish grey it may take the form of generalized arg￭ y￭ ria or local arg￭ y￭ ria generalized arg￭ y￭ ria affects large areas over much of the visible surface of the body local arg￭ y￭ ria shows in limited regions of the body such as pat￭ ches of skin parts of the mu￭ co￭ us memb￭ rane or the con￭ junc￭ tiva the terms arg￭ y￭ ria and arg￭ yro￭ sis have long been used inter￭ change￭ ably with arg￭ y￭ ria being used more frequently arg￭ yro￭ sis has been used particularly in referring to arg￭ y￭ ria of the con￭ junc￭ tiva but the usage has never been consistent and cannot be relied on except where it has been explicitly specified
carbon monoxide poisoning
carbon monoxide poisoning occurs after too much inhal￭ ation of carbon monoxide co carbon monoxide is a toxic gas but being color￭ less od￭ or￭ less tast￭ eless and initially non irritating it is very difficult for people to detect carbon monoxide is a product of incomplete combustion of organic matter due to insufficient oxygen supply to enable complete oxid￭ ation to carbon dioxide co 2 it is often produced in domestic or industrial settings by motor vehicles that run on gasoline diesel methane or other carbon based fuels and from tools gas heaters and cooking equipment that are powered by carbon based fuels such as pro￭ pan￭ e bu￭ tane and char￭ coal exposure at 100 ppm or greater can be dangerous to human health
oxygen toxicity
oxygen toxicity is a condition resulting from the harmful effects of breathing molecular oxygen o 2 at increased partial pressures it is also known as oxygen toxicity syndrome oxygen in￭ tox￭ ication and oxygen poisoning historically the central nervous system condition was called the paul bert effect and the pul￭ mon￭ ary condition the lor￭ rain smith effect after the researchers who pione￭ ered its discovery and description in the late 19 th century severe cases can result in cell damage and death with effects most often seen in the central nervous system lungs and eyes oxygen toxicity is a concern for underwater di￭ vers those on high concentrations of supplem￭ ental oxygen particularly premature babies and those undergoing hyper￭ bar￭ ic oxygen therapy
poly￭ mer fume fever
poly￭ mer fume fever or fluoro￭ poly￭ mer fever also informally called te￭ fl￭ on flu is an inhal￭ ation fever caused by the f￭ umes released when poly￭ tetr￭ af￭ lu￭ oro￭ ethylene pt￭ fe known under the trade name te￭ fl￭ on reaches temperatures of 300 ° f 149 ° c to 450 ° f 232 ° c when pt￭ fe is heated above 450 ° f 232 ° c the pyro￭ lysis products are different and inhal￭ ation may cause acute lung injury symptoms are flu like ch￭ ills headaches and fe￭ vers with chest ti￭ ght￭ ness and mild cough onset occurs about 4 to 8 hours after exposure to the pyro￭ lysis products of pt￭ fe a high white blood cell count may be seen and chest x ray findings are usually minimal
poly￭ mer fume fever or fluoro￭ poly￭ mer fever also informally called te￭ fl￭ on flu is an inhal￭ ation fever caused by the f￭ umes released when poly￭ tetr￭ af￭ lu￭ oro￭ ethylene pt￭ fe known under the trade name te￭ fl￭ on reaches temperatures of 300 ° f 149 ° c to 450 ° f 232 ° c when pt￭ fe is heated above 450 ° f 232 ° c the pyro￭ lysis products are different and inhal￭ ation may cause acute lung injury symptoms are flu like ch￭ ills headaches and fe￭ vers with chest ti￭ ght￭ ness and mild cough onset occurs about 4 to 8 hours after exposure to the pyro￭ lysis products of pt￭ fe a high white blood cell count may be seen and chest x ray findings are usually minimal the poly￭ mer f￭ umes are especially harmful to certain birds whose breathing optimi￭ zed for rap￭ idity allows toxins which are excluded by human lungs f￭ umes from te￭ fl￭ on in very high heat are fatal to par￭ rots as well as some other birds pt￭ fe toxico￭ sis
metal fume fever
metal fume fever also known as brass founders ague brass sh￭ akes zinc sh￭ akes gal￭ vie flu metal dust fever or monday morning fever is an illness primarily caused by exposure to certain f￭ umes workers breathe in f￭ umes from chemicals such as zinc oxide z￭ no or magnesium oxide m￭ go which are themselves created by heating or welding certain metals particularly galvan￭ ized steel other common sources are fum￭ ing silver gold plat￭ inum chromium from stainless steel nickel arsenic man￭ g￭ anese ber￭ yl￭ lium cadmium co￭ bal￭ t copper lead sel￭ en￭ ium and zinc
metal fume fever also known as brass founders ague brass sh￭ akes zinc sh￭ akes gal￭ vie flu metal dust fever or monday morning fever is an illness primarily caused by exposure to certain f￭ umes workers breathe in f￭ umes from chemicals such as zinc oxide z￭ no or magnesium oxide m￭ go which are themselves created by heating or welding certain metals particularly galvan￭ ized steel other common sources are fum￭ ing silver gold plat￭ inum chromium from stainless steel nickel arsenic man￭ g￭ anese ber￭ yl￭ lium cadmium co￭ bal￭ t copper lead sel￭ en￭ ium and zinc wel￭ ders are commonly exposed to the substances that cause metal fume fever from the base metal pl￭ ating or f￭ iller bra￭ zing and sol￭ dering a type of metal work in which only the f￭ iller is melted can also cause metal poisoning from lead zinc copper or cadmium in the f￭ iller metal in extreme cases cadmium present in some older silver sol￭ der allo￭ ys can cause loss of consciousness within a matter of minutes
shellfish poisoning
mush￭ room poisoning
mush￭ room poisoning also known as my￭ ce￭ tism or my￭ ce￭ ti￭ sm￭ us refers to harmful effects from ing￭ estion of toxic substances present in a mush￭ room these symptoms can vary from slight gastro￭ intest￭ inal discomfort to death the toxins present are secondary metabol￭ ites produced in specific bio￭ chemical pathways in the fun￭ gal cells mush￭ room poisoning is usually the result of ing￭ estion of wild mushrooms after mis￭ identification of a toxic mush￭ room as an edible species the most common reason for this mis￭ identification is close resemblance in terms of colour and general mor￭ pho￭ logy of the toxic mushrooms species with edible species
mush￭ room poisoning also known as my￭ ce￭ tism or my￭ ce￭ ti￭ sm￭ us refers to harmful effects from ing￭ estion of toxic substances present in a mush￭ room these symptoms can vary from slight gastro￭ intest￭ inal discomfort to death the toxins present are secondary metabol￭ ites produced in specific bio￭ chemical pathways in the fun￭ gal cells mush￭ room poisoning is usually the result of ing￭ estion of wild mushrooms after mis￭ identification of a toxic mush￭ room as an edible species the most common reason for this mis￭ identification is close resemblance in terms of colour and general mor￭ pho￭ logy of the toxic mushrooms species with edible species to prevent mush￭ room poisoning mush￭ room gather￭ ers need to be very familiar with the mushrooms they intend to collect as well as with any similar looking toxic species in addition edi￭ bility of mushrooms may depend on methods of preparation for cooking collectors also need to be well aware that edi￭ bility or toxicity of some species varies with geographic location
la￭ thy￭ ris￭ m
la￭ thy￭ ris￭ m or neuro￭ la￭ thy￭ ris￭ m is a neuro￭ logical disease of humans and domestic animals caused by eating certain leg￭ umes of the genus la￭ thy￭ rus this problem is mainly associated with la￭ thy￭ rus sati￭ v￭ us also known as grass pea kes￭ ari dal k￭ hes￭ ari dal or al￭ mor￭ ta and to a lesser degree with la￭ thy￭ rus cic￭ era la￭ thy￭ rus o￭ chr￭ us and la￭ thy￭ rus cl￭ y￭ men￭ um containing the toxin od￭ ap
er￭ goti￭ sm
er￭ goti￭ sm pr￭ on ˈ￭ ɜ￭ ː￭ r￭ ɡ￭ ə￭ t￭ ˌ￭ ɪ￭ z￭ ə￭ m ur g￭ ə￭ t iz ə￭ m is the effect of long term er￭ got poisoning traditionally due to the ing￭ estion of the al￭ k￭ alo￭ ids produced by the cla￭ vic￭ eps pur￭ pu￭ rea fun￭ gus that inf￭ ects rye and other cereals and more recently by the action of a number of er￭ gol￭ ine based drugs it is also known as er￭ go￭ toxico￭ sis er￭ got poisoning and saint anthony s fire er￭ got poisoning is a proposed explanation of be￭ wit￭ chment
sna￭ ke￭ bite
a sna￭ ke￭ bite is an injury caused by the bite of a snake it often results in two punc￭ ture wounds from the animal s f￭ ang￭ s sometimes poisoning from the bite may occur this may result in red￭ ness sw￭ elling and severe pain at the area which may take up to an hour to appear v￭ om￭ iting trouble seeing ting￭ ling of the limbs and swe￭ ating may result most bites are on the hands or arms fear following a bite is common with symptoms of a racing heart and feeling faint the ven￭ om may cause bleeding kidney failure a severe allergic reaction tissue death around the bite or breathing problems bites may result in the loss of a limb or other chronic problems the outcome depends on the type of snake the area of the body bit￭ ten the amount of ven￭ om injected and the health conditions of the person
a sna￭ ke￭ bite is an injury caused by the bite of a snake it often results in two punc￭ ture wounds from the animal s f￭ ang￭ s sometimes poisoning from the bite may occur this may result in red￭ ness sw￭ elling and severe pain at the area which may take up to an hour to appear v￭ om￭ iting trouble seeing ting￭ ling of the limbs and swe￭ ating may result most bites are on the hands or arms fear following a bite is common with symptoms of a racing heart and feeling faint the ven￭ om may cause bleeding kidney failure a severe allergic reaction tissue death around the bite or breathing problems bites may result in the loss of a limb or other chronic problems the outcome depends on the type of snake the area of the body bit￭ ten the amount of ven￭ om injected and the health conditions of the person problems are often worse in children than adults snakes bite both as a method of hunting and as a means of protection risk factors for bites include working outside with one s hand such as in farming forestry and construction snakes commonly involved in pois￭ on￭ ings include the elap￭ ids vi￭ pers and sea snakes the majority of snake species do not have ven￭ om and kill their prey by squeezing them ven￭ om￭ ous snakes can be found on every continent except antarc￭ tica determining the type of snake that caused a bite is often not possible the world health organization lists sna￭ ke￭ bite as a neglected disease prevention of snake bites can involve wearing protective footwear avoiding areas where snakes live and not handling snakes treatment partly depends on the type of snake washing the wound with soap and water and holding the limb still is recommended trying to suck out the ven￭ om cutting the wound with a knife or using a tour￭ ni￭ quet is not recommended anti￭ ven￭ om is effective at preventing death from bites however anti￭ ven￭ oms frequently have side effects the type of anti￭ ven￭ om needed depends on the type of snake involved when the type of snake is unknown anti￭ ven￭ om is often given based on the types known to be in the area in some areas of the world getting the right type of anti￭ ven￭ om is difficult and this partly contributes to why they sometimes do not work an additional issue is the cost of these medications anti￭ ven￭ om has little effect on the area around the bite itself supporting the person s breathing is sometimes also required the number of sna￭ ke￭ bites that occur each year may be as high as five million they result in about 2 5 million pois￭ on￭ ings and 20 000 to 125 000 deaths the frequency of bites varies greatly among different parts of the world they occur most commonly in africa asia and latin america with rural areas more greatly affected deaths are relatively rare in australia europe and north america for example about seven to eight thousand people per year in the united states are bit￭ ten by ven￭ om￭ ous snakes
tick paralysis
tick paralysis is the only tick borne disease that is not caused by an infectious organism the illness is caused by a neuro￭ toxin produced in the tick s sali￭ vary g￭ land after prolonged attachment the eng￭ org￭ ed tick trans￭ mits the toxin to its host the incidence of tick paralysis is unknown patients can experience severe respiratory distress similar to an￭ ap￭ hy￭ lax￭ is
cyanide poisoning
toxicity
toxicity is the degree to which a substance can damage an organism toxicity can refer to the effect on a whole organism such as an animal bacter￭ ium or plant as well as the effect on a sub￭ structure of the organism such as a cell cy￭ to￭ toxicity or an organ such as the liver he￭ pat￭ o￭ toxicity by extension the word may be met￭ aphor￭ ically used to describe toxic effects on larger and more complex groups such as the family unit or society at large sometimes the word is more or less synonymous with poisoning in everyday usage
toxicity is the degree to which a substance can damage an organism toxicity can refer to the effect on a whole organism such as an animal bacter￭ ium or plant as well as the effect on a sub￭ structure of the organism such as a cell cy￭ to￭ toxicity or an organ such as the liver he￭ pat￭ o￭ toxicity by extension the word may be met￭ aphor￭ ically used to describe toxic effects on larger and more complex groups such as the family unit or society at large sometimes the word is more or less synonymous with poisoning in everyday usage a central concept of toxico￭ logy is that the effects of a toxin are dose dependent even water can lead to water in￭ tox￭ ication when taken in too high a dose whereas for even a very toxic substance such as snake ven￭ om there is a dose below which there is no detec￭ table toxic effect toxicity is species specific making cross species analysis problematic newer paradi￭ g￭ ms and metr￭ ics are evolving to bypass animal testing while maintaining the concept of toxicity end￭ points
acute radiation syndrome
acute radiation syndrome ars also known as radiation poisoning radiation sickness or radiation toxicity is a collection of health effects that are present within 24 hours of exposure to high amounts of ionizing radiation the radiation causes cellular degradation due to damage to dna and other key molecular structures within the cells in various tissues this destruction particularly because it affects the ability of cells to divide normally in turn causes the symptoms the symptoms can begin within one or two hours and may last for several months the terms refer to acute medical problems rather than ones that develop after a prolonged period
heat stroke
heat￭ stroke and heat￭ stro￭ kes redirect here for other uses see heat￭ stroke dis￭ ambigu￭ ation heat stroke also known as sun stroke is a severe heat illness defined as hyper￭ ther￭ mia with a body temperature greater than 40 6 ° c 105 1 ° f because of environmental heat exposure with lack of thermo￭ regulation this is distinct from a fever where there is a physiological increase in the temperature set point of the body the term stroke in heat stroke is a mis￭ no￭ mer in that it does not involve a block￭ age or hemorrha￭ ge of blood flow to the brain preventive measures include drinking plenty of cool liquids and avoiding excessive heat and hum￭ idity especially in un￭ ventil￭ ated spaces such as parked cars that can over￭ heat quickly treatment requires rapid physical cooling of the body
hypo￭ ther￭ mia
hypo￭ ther￭ mia is defined as a body core temperature below 35 0 ° c 95 0 ° f symptoms depend on the temperature in mild hypo￭ ther￭ mia there is shi￭ vering and mental confusion in moderate hypo￭ ther￭ mia shi￭ vering stops and confusion increases in severe hypo￭ ther￭ mia there may be in which a person removes his or her clothing as well as an increased risk of the heart stopping
hypo￭ ther￭ mia is defined as a body core temperature below 35 0 ° c 95 0 ° f symptoms depend on the temperature in mild hypo￭ ther￭ mia there is shi￭ vering and mental confusion in moderate hypo￭ ther￭ mia shi￭ vering stops and confusion increases in severe hypo￭ ther￭ mia there may be in which a person removes his or her clothing as well as an increased risk of the heart stopping hypo￭ ther￭ mia has two main types of causes it class￭ ically occurs from exposure to extreme cold it may also occur from any condition that decreases heat production or increases heat loss commonly this includes alcohol in￭ tox￭ ication but may also include low blood sugar an￭ ore￭ x￭ ia and advanced age among others body temperature is usually maintained near a constant level of 36 5 – 37 5 ° c 97 7 – 99 5 ° f through thermo￭ regulation efforts to increase body temperature involve shi￭ vering increased voluntary activity and putting on warmer clothing hypo￭ ther￭ mia may be diagnosed based on either a person s symptoms in the presence of risk factors or by measuring a person s core temperature the treatment of mild hypo￭ ther￭ mia involves warm drinks warm clothing and physical activity in those with moderate hypo￭ ther￭ mia heating blankets and warm￭ ed intra￭ ven￭ ous fluids are recommended people with moderate or severe hypo￭ ther￭ mia should be moved gently in severe hypo￭ ther￭ mia ex￭ trac￭ or￭ po￭ real memb￭ rane oxy￭ gen￭ ation ec￭ mo or cardi￭ op￭ ul￭ mon￭ ary bypass may be useful in those without a pulse cardi￭ op￭ ul￭ mon￭ ary resusc￭ itation c￭ pr is indicated along with the above measures re￭ warming is typically continued until a person s temperature is greater than 32 ° c 90 ° f if there is no improvement at this point or the blood potassium level is greater than 12 m￭ mol lit￭ er at any time resusc￭ itation may be discontinued hypo￭ ther￭ mia is the cause of at least 1500 deaths a year in the united states it is more common in older people and males one of the lowest documented body temperatures from which someone with accidental hypo￭ ther￭ mia has survived is 13 0 ° c 55 4 ° f in a near drowning of a 7 year old girl in sweden survival after more than six hours of c￭ pr has been described in those in whom ec￭ mo or bypass is used survival is around 50 deaths due to hypo￭ ther￭ mia have played an important role in many wars hyper￭ ther￭ mia is the opposite of hypo￭ ther￭ mia being an increased body temperature due to failed thermo￭ regulation the term is from greek ὑ￭ π￭ ο meaning under and θ￭ ερ￭ μ￭ ία meaning heat
tren￭ ch foot
tren￭ ch foot is a medical condition caused by prolonged exposure of the feet to dam￭ p un￭ sanitary and cold conditions it is one of many immer￭ sion foot syndro￭ mes the use of the word tren￭ ch in the name of this condition is a reference to tren￭ ch warfare mainly associated with world war i which started in 1914
chil￭ bl￭ ains
chil￭ bl￭ ains ˈ￭ t￭ ʃ￭ ɪ￭ l￭ ble￭ ɪ￭ n￭ z — also known as per￭ nio and per￭ ni￭ osis — is a medical condition that occurs when a pre￭ disposed individual is exposed to cold and hum￭ idity causing tissue damage it is often confused with fro￭ st￭ bite and tren￭ ch foot damage to cap￭ ill￭ ary beds in the skin causes red￭ ness it￭ ching infl￭ amm￭ ation and sometimes bl￭ is￭ ters chil￭ bl￭ ains can be reduced by keeping the feet and hands warm in cold weather and avoiding extreme temperature changes chil￭ bl￭ ains can be idi￭ opathic spontaneous and unrelated to another disease but may also be a manifestation of another serious medical condition that needs to be investigated a history of chil￭ bl￭ ains is sugges￭ tive of a connec￭ tive tissue disease such as lup￭ us chil￭ bl￭ ains in infants together with severe neuro￭ logic disease and un￭ expl￭ aine
bar￭ o￭ trauma
high altitude pul￭ mon￭ ary e￭ dem￭ a
high altitude pul￭ mon￭ ary e￭ dem￭ a ha￭ pe hap￭ o spelled oe￭ dem￭ a in british english is a life threatening form of non cardi￭ ogenic pul￭ mon￭ ary e￭ dem￭ a fluid accumulation in the lungs that occurs in otherwise healthy mountain￭ e￭ ers at al￭ titu￭ des typically above 2 500 meters 8 200 ft however cases have also been reported at lower al￭ titu￭ des between 1 500 – 2 500 metres or 4 900 – 8 200 feet in highly vulnerable subjects though what makes some people susceptible to ha￭ pe is currently unknown ha￭ pe remains the major cause of death related to high altitude exposure with a high mortality rate in the absence of adequate emergency treatment
altitude sickness
altitude sickness — also known as acute mountain sickness ams is a pathological effect of high altitude on humans caused by acute exposure to low partial pressure of oxygen at high altitude although minor symptoms such as breath￭ lessness may occur at al￭ titu￭ des of 1 500 metres 5 000 ft ams commonly occurs above 2 400 metres 8 000 ft it presents as a collection of non￭ specific symptoms acquired at high altitude or in low air pressure resembling a case of flu carbon monoxide poisoning or a hangover it is hard to determine who will be affected by altitude sickness as there are no specific factors that cor￭ relate with a suscep￭ tibility to altitude sickness however most people can asc￭ end to 2 400 metres 8 000 ft without difficulty
altitude sickness — also known as acute mountain sickness ams is a pathological effect of high altitude on humans caused by acute exposure to low partial pressure of oxygen at high altitude although minor symptoms such as breath￭ lessness may occur at al￭ titu￭ des of 1 500 metres 5 000 ft ams commonly occurs above 2 400 metres 8 000 ft it presents as a collection of non￭ specific symptoms acquired at high altitude or in low air pressure resembling a case of flu carbon monoxide poisoning or a hangover it is hard to determine who will be affected by altitude sickness as there are no specific factors that cor￭ relate with a suscep￭ tibility to altitude sickness however most people can asc￭ end to 2 400 metres 8 000 ft without difficulty acute mountain sickness can progress to high altitude pul￭ mon￭ ary e￭ dem￭ a ha￭ pe or high altitude cere￭ br￭ al e￭ dem￭ a h￭ ace which are potentially fatal chronic mountain sickness also known as mon￭ ge s disease is a different condition that only occurs after very prolonged exposure to high altitude
de￭ compression sickness
de￭ compression sickness d￭ cs also known as di￭ vers disease the ben￭ ds or ca￭ is￭ son disease describes a condition arising from dissolved gases coming out of solution into bubbles inside the body on depres￭ sur￭ isation d￭ cs most commonly refers to problems arising from underwater diving de￭ compression i e during as￭ cent but may be experienced in other depres￭ sur￭ isation events such as working in a ca￭ is￭ son flying in an un￭ pressur￭ ised aircraft and extra￭ vehic￭ ular activity from spacecraft d￭ cs is a sub￭ set of de￭ compression illness dci which includes both d￭ cs and arter￭ ial gas embol￭ ism age
starvation
starvation is a severe deficiency in cal￭ or￭ ic energy intake needed to maintain human life it is the most extreme form of malnutrition in humans prolonged starvation can cause permanent organ damage and eventually death the term in￭ an￭ ition refers to the symptoms and effects of starvation starvation may also be used as a means of torture or execution
starvation is a severe deficiency in cal￭ or￭ ic energy intake needed to maintain human life it is the most extreme form of malnutrition in humans prolonged starvation can cause permanent organ damage and eventually death the term in￭ an￭ ition refers to the symptoms and effects of starvation starvation may also be used as a means of torture or execution according to the world health organization hunger is the single gravest threat to the world s public health the who also states that malnutrition is by far the biggest contributor to child mortality present in half of all cases under￭ nutrition is a contributory factor in the death of 3 1 million children under five every year figures on actual starvation are difficult to come by but according to the food and agriculture organization the less severe condition of under￭ nour￭ ishment currently affects about 842 million people or about one in eight 12 5 people in the world population the bloated stomach as seen in the picture to the right represents a form of malnutrition called k￭ was￭ hi￭ or￭ k￭ or which is caused by insufficient protein despite a sufficient cal￭ or￭ ic intake children are more vulnerable to k￭ was￭ hi￭ or￭ k￭ or advanced symptoms of which include weight loss and muscle wasting
neglect
neglect is a form of abuse where the perpetrator is responsible for caring for someone who is unable to care for himself or herself but fails to do so neglect may include the failure to provide sufficient supervision nour￭ ishment or medical care or the failure to fulfill other needs for which the victim cannot provide themselves the term is also applied when necessary care is withheld by those responsible for providing it from animals plants and even in￭ anim￭ ate objects neglect can carry on in a child s life falling into many long term side effects such as physical injuries low self esteem attention disorders violent behavior and can even cause death
sexual assault
sexual assault is a sexual act in which a person is coer￭ ced or physically forced to engage against their will or a non consensual sexual touching of a person sexual assault is a form of sexual violence and it includes rape such as forced vag￭ inal anal or oral penetration or drug facilitated sexual assault gro￭ ping child sexual abuse or the torture of the person in a sexual manner
rape
rape is a type of sexual assault usually involving sexual inter￭ course or other forms of sexual penetration perpetrated against a person without that person s consent the act may be carried out by physical force coercion abuse of authority or against a person who is incapable of giving valid consent such as one who is unconscious incapac￭ itated has an intellectual disability or is below the legal age of consent the term rape is sometimes used inter￭ change￭ ably with the term sexual assault
drowning
drowning is defined as respiratory impairment from being in or under a liquid it is further classified by outcome into death ongoing health problems and no ongoing health problems using the term near drowning to refer to those who survive is no longer recommended drowning itself is quick and silent although it may be preceded by distress which is more visible
drowning is defined as respiratory impairment from being in or under a liquid it is further classified by outcome into death ongoing health problems and no ongoing health problems using the term near drowning to refer to those who survive is no longer recommended drowning itself is quick and silent although it may be preceded by distress which is more visible generally in the early stages of drowning very little water enters the lungs a small amount of water entering the trac￭ hea causes a muscular sp￭ asm that seals the air￭ way and prevents the passage of both air and water until un￭ consciousness occurs this means a person drowning is unable to shout or call for help or seek attention as they cannot obtain enough air the instinc￭ tive drowning response is the final set of autonom￭ ic reactions in the 20 – 60 seconds before sinking underwater and to the un￭ trained eye can look similar to calm safe behavior life￭ guards and other persons trained in rescue learn to recognize drowning people by watching for these movements in 2013 there were about 1 7 million cases of drowning un￭ intentional drowning is the third leading cause of un￭ intentional injury resulting in death worldwide in 2013 it was estimated to have resulted in 368 000 deaths down from 545 000 deaths in 1990 of these deaths 82 000 occurred in children less than five years old it accounts for 7 of all injury related deaths excluding those due to natural disasters with 91 of these deaths occurring in low income and middle income countries drowning occurs more frequently in males and the young the rate of drowning in populations around the world varies widely according to their access to water the climate and the national swimming culture
motion sickness
motion sickness also known as k￭ ine￭ to￭ sis and travel sickness is a condition in which a disagreement exists between vis￭ ually perceived movement and the vesti￭ bul￭ ar system s sense of movement depending on the cause it can also be referred to as seas￭ ick￭ ness car sickness simulation sickness or air￭ sickness
motion sickness also known as k￭ ine￭ to￭ sis and travel sickness is a condition in which a disagreement exists between vis￭ ually perceived movement and the vesti￭ bul￭ ar system s sense of movement depending on the cause it can also be referred to as seas￭ ick￭ ness car sickness simulation sickness or air￭ sickness di￭ zz￭ iness fatigue and naus￭ ea are the most common symptoms of motion sickness sop￭ ite syndrome in which a person feels fatigue or ti￭ red￭ ness is also associated with motion sickness naus￭ ea in greek means seas￭ ick￭ ness n￭ aus means ship if the motion causing naus￭ ea is not resolved the suffer￭ er will usually v￭ omit v￭ om￭ iting often will not relieve the feeling of weakness and naus￭ ea which means the person might continue to v￭ omit until the cause of the naus￭ ea is treated
food allergy
a food allergy is an abnormal immune response to food the signs and symptoms may range from mild to severe they may include it￭ chin￭ ess sw￭ elling of the tongue v￭ om￭ iting diarr￭ hea hi￭ ves trouble breathing or low blood pressure this typically occurs within minutes to several hours of exposure when the symptoms are severe it is known as an￭ ap￭ hy￭ lax￭ is food intolerance and food poisoning are separate conditions
an￭ ap￭ hy￭ lax￭ is
an￭ ap￭ hy￭ lax￭ is is a serious allergic reaction that is rapid in onset and may cause death it typically causes more than one of the following an it￭ chy rash throat or tongue sw￭ elling short￭ ness of breath v￭ om￭ iting ligh￭ the￭ ad￭ ed￭ ness and low blood pressure these symptoms typically come on over minutes to hours
j￭ aris￭ ch – her￭ x￭ he￭ imer reaction
the j￭ aris￭ ch – her￭ x￭ he￭ imer reaction is a reaction to endo￭ toxin like products released by the death of harmful micro￭ organisms within the body during antibiotic treatment
allergy
allergies also known as allergic diseases are a number of conditions caused by hy￭ pers￭ ensi￭ tivity of the immune system to something in the environment that usually causes little or no problem in most people these diseases include hay fever food allergies at￭ op￭ ic der￭ mati￭ tis allergic asthma and an￭ ap￭ hy￭ lax￭ is symptoms may include red eyes an it￭ chy rash run￭ ny nose short￭ ness of breath or sw￭ elling food intoler￭ ances and food poisoning are separate conditions
allergies also known as allergic diseases are a number of conditions caused by hy￭ pers￭ ensi￭ tivity of the immune system to something in the environment that usually causes little or no problem in most people these diseases include hay fever food allergies at￭ op￭ ic der￭ mati￭ tis allergic asthma and an￭ ap￭ hy￭ lax￭ is symptoms may include red eyes an it￭ chy rash run￭ ny nose short￭ ness of breath or sw￭ elling food intoler￭ ances and food poisoning are separate conditions common aller￭ gens include poll￭ en and certain food metals and other substances may also cause problems food insect st￭ ings and medications are common causes of severe reactions their development is due to both genetic and environmental factors the underlying mechanism involves immun￭ o￭ glob￭ ulin e antibodies i￭ ge part of the body s immune system binding to an aller￭ gen and then to a recep￭ tor on m￭ ast cells or bas￭ oph￭ ils where it triggers the release of infl￭ am￭ matory chemicals such as hist￭ amine diagnosis is typically based on a person s medical history further testing of the skin or blood may be useful in certain cases positive tests however may not mean there is a significant allergy to the substance in question early exposure to potential aller￭ gens may be protective treatments for allergies include avoiding known aller￭ gens and the use of medications such as ster￭ oids and anti￭ hist￭ am￭ ines in severe reactions injec￭ table adren￭ al￭ ine ep￭ in￭ eph￭ rine is recommended aller￭ gen immun￭ otherapy which gradually exposes people to larger and larger amounts of aller￭ gen is useful for some types of allergies such as hay fever and reactions to insect bites its use in food allergies is unclear allergies are common in the developed world about 20 of people are affected by allergic rh￭ initi￭ s about 6 of people have at least one food allergy and about 20 have at￭ op￭ ic der￭ mati￭ tis at some point in time depending on the country about 1 – 18 of people have asthma an￭ ap￭ hy￭ lax￭ is occurs in between 0 05 – 2 of people rates of many allergic diseases appear to be increasing the word allergy was first used by clem￭ ens von pir￭ quet in 1906
peanut allergy
peanut allergy is a type of food allergy to peanuts it is different from nut allergies physical symptoms of allergic reaction can include it￭ chin￭ ess ur￭ tic￭ aria sw￭ elling ecz￭ ema snee￭ zing asthma ab￭ domin￭ al pain drop in blood pressure diarr￭ hea and cardiac arrest an￭ ap￭ hy￭ lax￭ is may occur it is due to a type i hy￭ pers￭ ensi￭ tivity reaction of the immune system in susceptible individuals the allergy is recognized as one of the most severe food allergies due to its prevalence pers￭ ist￭ ency and potential severity of allergic reaction
peanut allergy is a type of food allergy to peanuts it is different from nut allergies physical symptoms of allergic reaction can include it￭ chin￭ ess ur￭ tic￭ aria sw￭ elling ecz￭ ema snee￭ zing asthma ab￭ domin￭ al pain drop in blood pressure diarr￭ hea and cardiac arrest an￭ ap￭ hy￭ lax￭ is may occur it is due to a type i hy￭ pers￭ ensi￭ tivity reaction of the immune system in susceptible individuals the allergy is recognized as one of the most severe food allergies due to its prevalence pers￭ ist￭ ency and potential severity of allergic reaction in the united states peanut allergies are present in 0 6 of the population in western cultures peanut allergy is the most common cause of food related an￭ ap￭ hy￭ lax￭ is death
ar￭ thus reaction
crush syndrome
crush syndrome also traumatic r￭ hab￭ dom￭ y￭ ol￭ ysis or by￭ waters syndrome or ground beef blood g￭ bb is a medical condition characterized by major shock and ren￭ al failure after a crushing injury to sk￭ el￭ etal muscle crush injury is compression of extre￭ mi￭ ties or other parts of the body that causes muscle sw￭ elling and or neuro￭ logical disturbances in the affected areas of the body while crush syndrome is loc￭ alized crush injury with systemic manifestations cases occur commonly in catastrophes such as earthquakes to victims that have been trapped under fallen or moving masonry
crush syndrome also traumatic r￭ hab￭ dom￭ y￭ ol￭ ysis or by￭ waters syndrome or ground beef blood g￭ bb is a medical condition characterized by major shock and ren￭ al failure after a crushing injury to sk￭ el￭ etal muscle crush injury is compression of extre￭ mi￭ ties or other parts of the body that causes muscle sw￭ elling and or neuro￭ logical disturbances in the affected areas of the body while crush syndrome is loc￭ alized crush injury with systemic manifestations cases occur commonly in catastrophes such as earthquakes to victims that have been trapped under fallen or moving masonry victims of crushing damage present some of the greatest challenges in field medicine and may be among the few situations where a physician is needed in the field the most drastic response to crushing under massive objects may be field ampu￭ tation even if it is possible to ex￭ tricate the patient without ampu￭ tation appropriate physiological preparation is mandatory where per￭ missive hypo￭ tension is the standard for pre￭ hospital care fluid loading is the requirement in crush syndrome
sub￭ cu￭ taneous emph￭ ys￭ ema
sub￭ cu￭ taneous emph￭ ys￭ ema is when gas or air is in the layer under the skin sub￭ cu￭ taneous refers to the tissue beneath the skin and emph￭ ys￭ ema refers to trapped air it is sometimes abbreviated sce or se and also called tissue emph￭ ys￭ ema or sub q air since the air generally comes from the chest cav￭ ity sub￭ cu￭ taneous emph￭ ys￭ ema usually occurs on the chest neck and face where it is able to travel from the chest cav￭ ity along the fas￭ cia sub￭ cu￭ taneous emph￭ ys￭ ema has a characteristic crack￭ ling feel to the touch a sensation that has been described as similar to touching rice kris￭ pies this sensation of air under the skin is known as sub￭ cu￭ taneous cre￭ p￭ itation
serum sickness
graft versus host disease
vaccine injury
a vaccine injury is an injury caused by vaccination allegations and confirmed instances of vaccine injuries in recent decades have appeared in litigation in the united states some families have won substantial awards from sympathetic jur￭ ies even though many public health officials have said that the claims of injuries are unfounded in response several vaccine makers stopped production threatening public health and laws were passed to shield makers from liabilities stemming from vaccine injury claims
m￭ align￭ ant hyper￭ ther￭ mia
m￭ align￭ ant hyper￭ ther￭ mia m￭ h or m￭ align￭ ant hyper￭ py￭ re￭ x￭ ia is a rare life threatening condition that is usually triggered by exposure to certain drugs used for general an￭ esthesia — specifically the volatile an￭ esthetic agents and succ￭ in￭ yl￭ ch￭ oline a neuro￭ muscular blocking agent in susceptible individuals these drugs can induce a drastic and uncontrolled increase in oxid￭ ative metabol￭ ism in sk￭ el￭ etal muscle which overwhel￭ ms the body s capacity to supply oxygen remove carbon dioxide and regulate body temperature eventually leading to circul￭ atory collapse and death if not immediately treated
m￭ align￭ ant hyper￭ ther￭ mia m￭ h or m￭ align￭ ant hyper￭ py￭ re￭ x￭ ia is a rare life threatening condition that is usually triggered by exposure to certain drugs used for general an￭ esthesia — specifically the volatile an￭ esthetic agents and succ￭ in￭ yl￭ ch￭ oline a neuro￭ muscular blocking agent in susceptible individuals these drugs can induce a drastic and uncontrolled increase in oxid￭ ative metabol￭ ism in sk￭ el￭ etal muscle which overwhel￭ ms the body s capacity to supply oxygen remove carbon dioxide and regulate body temperature eventually leading to circul￭ atory collapse and death if not immediately treated suscep￭ tibility to m￭ h is often inherited as an auto￭ som￭ al dominant disorder for which there are at least 6 genetic loc￭ i of interest most prominently the ry￭ an￭ od￭ ine recep￭ tor gene ry￭ r 1 m￭ h suscep￭ tibility is phen￭ o￭ typically and genetically related to central core disease cc￭ d an auto￭ som￭ al dominant disorder characterized both by m￭ h signs and my￭ opathy m￭ h is usually revealed upon or shortly after exposure to certain general an￭ esthetic agents there is no simple straightforward test to diagnose the condition treatment with dan￭ tro￭ lene and other drugs is usually initiated when m￭ h is strongly suspected dan￭ tro￭ lene and the avoidance of triggering agents in susceptible people have markedly reduced the mortality from this condition
adverse drug reaction
severe acute respiratory syndrome
severe acute respiratory syndrome sars is a viral respiratory disease of zoonotic origin caused by the sars coron￭ avi￭ rus sars co￭ v between november 2002 and july 2003 an outbreak of sars in southern china caused an eventual 8 0￭ 96 cases resulting in 774 deaths reported in 37 countries with the majority of cases in hong kong 9 6 fat￭ ality rate according to the world health organization who no cases of sars have been reported worldwide since 2004
traffic collision
a traffic collision also known as a motor vehicle collision m￭ v￭ c among others occurs when a vehicle colli￭ des with another vehicle pedestrian animal road debris or other stationary obstruction such as a tree or pole traffic collis￭ ions may result in injury death and property damage
paper cut
a paper cut occurs when a piece of paper or other thin sharp material slic￭ es a person s skin paper cuts though named from paper can also be caused by other thin stiff materials although a loose paper sheet is usually too soft to cut it can be very thin sometimes as thin as a razor edge being then able to exert high levels of pressure enough to cut the skin paper cuts are most often caused by paper sheets that are strongly fast￭ ened together such as brand new paper out of a re￭ am because one single paper sheet might be dis￭ located from the rest thus all the other sheets are holding this dis￭ located sheet in position and the very small part held away from the rest can be stiff enough to act as a razor
a paper cut occurs when a piece of paper or other thin sharp material slic￭ es a person s skin paper cuts though named from paper can also be caused by other thin stiff materials although a loose paper sheet is usually too soft to cut it can be very thin sometimes as thin as a razor edge being then able to exert high levels of pressure enough to cut the skin paper cuts are most often caused by paper sheets that are strongly fast￭ ened together such as brand new paper out of a re￭ am because one single paper sheet might be dis￭ located from the rest thus all the other sheets are holding this dis￭ located sheet in position and the very small part held away from the rest can be stiff enough to act as a razor paper cuts can be surprisingly painful as they can stimulate a large number of skin surface no￭ cic￭ ep￭ tors pain recep￭ tors in a very small area of the skin because the shallow cut does not bleed very much the pain recep￭ tors are left open to the air ensuring continued pain however the cut can also be very deep in which case a pu￭ ddle of blood pools around a longer g￭ ash this is exacerbated by irritation caused by the fi￭ bers in the paper itself which may be co￭ ated in chemicals such as ble￭ ach additionally most paper cuts occur in the fingers which have a greater concentration of sensory recep￭ tors than the rest of the body the random orientation of coll￭ agen fi￭ bers in skin provides the ability to withstand pin￭ point forces however the skin does not have the same strength against sh￭ ear￭ ing forces and is easily cut
need￭ les￭ tick injury
a need￭ les￭ tick injury per￭ cu￭ taneous injury or per￭ cu￭ taneous exposure incident is the penetration of skin by a needle or other sharp object which was in contact with blood tissue or other body fluid before the exposure occupational need￭ les￭ tick injuries primarily affect healthcare workers who make up 80 of need￭ les￭ tick injuries in the united states various other occupations are also at increased risk of need￭ les￭ tick injury including law enforcement labor￭ ers tattoo artists food prepar￭ ers and agricultural workers though the acute physiological effects of a need￭ les￭ tick injury are generally negligible these devices can transmit blood borne diseases placing those exposed at increased risk of contracting infectious diseases such as hepatitis b h￭ bv hepatitis c h￭ c￭ v and the human i
dog bite
dog bites or dog attacks are attacks on humans by feral or domestic dogs with the close association of dogs and humans in daily life largely as pets dog bites – with injuries from very minor to significant – are extremely common dogs also pose danger from their cla￭ ws and can be powerful enough to knock people down attacks on the serious end of the spectrum have become the focus of increasing media and public attention in the late 20 th and early 21 st centuries
suicide
suicide is the act of intentionally causing one s own death risk factors include mental disorders such as depression bipolar disorder schizophrenia personality disorders alcoholism or substance misuse others are impul￭ sive acts due to stress such as from financial difficulties troubles with relationships or from bullying those who have previously attempted suicide are at higher risk for future attempts suicide prevention efforts include limiting access to method of suicide such as firearms and pois￭ ons treating mental disorders and substance misuse proper media reporting of suicide and improving economic conditions although crisis hot￭ lines are common there is little evidence for their effectiveness
suicide is the act of intentionally causing one s own death risk factors include mental disorders such as depression bipolar disorder schizophrenia personality disorders alcoholism or substance misuse others are impul￭ sive acts due to stress such as from financial difficulties troubles with relationships or from bullying those who have previously attempted suicide are at higher risk for future attempts suicide prevention efforts include limiting access to method of suicide such as firearms and pois￭ ons treating mental disorders and substance misuse proper media reporting of suicide and improving economic conditions although crisis hot￭ lines are common there is little evidence for their effectiveness the most commonly used method of suicide varies between countries and is partly related to the availability of effective means common methods include hanging pesticide poisoning and firearms suicide resulted in 842 000 deaths globally in 2013 up from 7￭ 12 000 deaths in 1990 this makes it the 10 th leading cause of death worldwide three quarters of suicides globally occur in the developing world rates of completed suicides are generally higher in men than in women ranging from 1 5 times as much in the developing world to 3 5 times in the developed world suicide is generally most common among those over the age of 70 however in certain countries those aged between 15 and 30 are at highest risk there are an estimated 10 to 20 million non fatal attempted suicides every year non fatal suicide attempts may lead to injury and long term disabilities in the western world attempts are more common in young people and females views on suicide have been influenced by broad existential themes such as religion honor and the meaning of life the abra￭ ham￭ ic religions traditionally consider suicide an offense towards god due to the belief in the sanctity of life during the sam￭ ur￭ ai era in japan a form of suicide known as sep￭ pu￭ ku was respected as a means of making up for failure or as a form of protest s￭ ati a practice outlawed by the british ra￭ j expected the indian widow to kill herself on her husband s funeral fire either willingly or under pressure from the family and society suicide and attempted suicide while previously illegal are no longer in most western countries it in the 20 th and 21 st centuries suicide has been used on rare occasions as a form of protest and kam￭ ik￭ a￭ ze and suicide bombings have been used as a military or terrorist tactic the word is from the latin suic￭ idi￭ um which means the killing of oneself
self harm
self harm sh also known as self injury is defined as the intentional direct inj￭ uring of body tissue done without suicidal intentions these terms are used in the more recent literature in an attempt to reach a more neutral terminology the older literature especially that which pre￭ dates the diagnostic and statistical manual of mental disorders dsm 5 almost exclusively refers to self mutilation
self harm sh also known as self injury is defined as the intentional direct inj￭ uring of body tissue done without suicidal intentions these terms are used in the more recent literature in an attempt to reach a more neutral terminology the older literature especially that which pre￭ dates the diagnostic and statistical manual of mental disorders dsm 5 almost exclusively refers to self mutilation the most common form of self harm is using a sharp object to cut one s skin but self harm also covers a wide range of behaviors including burning scrat￭ ching banging or hitting body parts interfering with wound healing der￭ mati￭ l￭ lo￭ mania hair pulling tric￭ ho￭ til￭ lo￭ mania and the ing￭ estion of toxic substances or objects behavi￭ ours associated with substance abuse and eating disorders are usually not considered self harm because the resulting tissue damage is ordinarily an un￭ intentional side effect however the boundaries are not always clearly defined and in some cases behavi￭ ours that usually fall outside the boundaries of self harm may indeed represent self harm if performed with explicit intent to cause tissue damage although suicide is not the intention of self harm the relationship between self harm and suicide is complex as self harming behaviour may be potentially life threatening there is also an increased risk of suicide in individuals who self harm to the extent that self harm is found in 40 – 60 of suicides however gener￭ alising self harm￭ ers to be suicidal is in the majority of cases inaccurate the desire to self harm is listed in the dsm 5 as a symptom of borderline personality disorder however patients with other mental disorders may also self harm including those with depression anxiety disorders substance abuse eating disorders post traumatic stress disorder schizophrenia and several personality disorders self harm is also apparent in high functioning individuals who have no underlying clinical diagnosis the motivations for self harm vary and it may be used to fulfill a number of different functions these functions include self harm being used as a coping mechanism which provides temporary relief of intense feelings such as anxiety depression stress emotional num￭ b￭ ness or a sense of failure or self loa￭ thing and other mental traits including low self esteem or perfec￭ tion￭ ism self harm is often associated with a history of trauma and abuse including emotional and sexual abuse there are a number of different methods that can be used to treat self harm and which concentrate on either treating the underlying causes or on treating the behaviour itself when self harm is associated with depression anti￭ depres￭ sant drugs and therapy may be effective other approaches involve avoidance techniques which focus on keeping the individual occupied with other activities or replacing the act of self harm with safer methods that do not lead to permanent damage in 2013 about 3 3 million cases of self harm occurred self harm is most common in adoles￭ cence and young adul￭ thood usually first appearing between the ages of 12 and 24 self harm in childhood is relatively rare but the rate has been increasing since the 1980 s however self harm behaviour can occur at any age including in the elderly population the risk of serious injury and suicide is higher in older people who self harm self harm is not limited to humans captive animals such as birds and monkeys are also known to participate in self harming behaviour
fel￭ ine ac￭ ne
fel￭ ine ac￭ ne is a problem seen in cats primarily involving the formation of black￭ heads accompanied by infl￭ amm￭ ation on the cat s chin and surrounding areas in many cases symptoms are mild and the disease does not require treatment more severe cases however may respond slowly to treatment and seriously detract from the health and appearance of the cat fel￭ ine ac￭ ne can affect cats of any age sex or breed other conditions that can cause similar appearing conditions include skin mit￭ es ring￭ worm ye￭ ast infection or auto immune diseases such as e￭ o￭ sin￭ oph￭ il￭ ic gran￭ ul￭ oma complex ro￭ dent ul￭ cers
fel￭ ine ac￭ ne is a problem seen in cats primarily involving the formation of black￭ heads accompanied by infl￭ amm￭ ation on the cat s chin and surrounding areas in many cases symptoms are mild and the disease does not require treatment more severe cases however may respond slowly to treatment and seriously detract from the health and appearance of the cat fel￭ ine ac￭ ne can affect cats of any age sex or breed se￭ bac￭ eous g￭ lands are mostly found in the skin of the chin base of the tail eye￭ li￭ ds lips pre￭ pu￭ ce and scro￭ tum they are connected to the hair fol￭ lic￭ les in ac￭ ne the fol￭ lic￭ les become clo￭ gged with black se￭ bac￭ eous material forming com￭ ed￭ ones also known as black￭ heads these com￭ ed￭ ones can become irritated sw￭ oll￭ en and infected leading to pu￭ st￭ ules the cats may experience it￭ ching and discomfort due to sw￭ elling and bacterial growth inside infected g￭ lands secondary fun￭ gal infections species mal￭ as￭ se￭ zia may also occur other conditions that can cause similar appearing conditions include skin mit￭ es ring￭ worm ye￭ ast infection or auto immune diseases such as e￭ o￭ sin￭ oph￭ il￭ ic gran￭ ul￭ oma complex ro￭ dent ul￭ cers
thro￭ m￭ bus
a thro￭ m￭ bus col￭ lo￭ qu￭ ially called a blood clo￭ t is the final product of the blood co￭ ag￭ ulation step in h￭ emo￭ st￭ asis there are two components to a thro￭ m￭ bus aggregated plat￭ el￭ ets that form a plat￭ elet plug and a mesh of cross linked fi￭ br￭ in protein the substance making up a thro￭ m￭ bus is sometimes called cru￭ or a thro￭ m￭ bus is a healthy response to injury intended to prevent bleeding but can be harmful in thro￭ m￭ bo￭ sis when clo￭ ts obstruct blood flow through healthy blood vessels
a thro￭ m￭ bus col￭ lo￭ qu￭ ially called a blood clo￭ t is the final product of the blood co￭ ag￭ ulation step in h￭ emo￭ st￭ asis there are two components to a thro￭ m￭ bus aggregated plat￭ el￭ ets that form a plat￭ elet plug and a mesh of cross linked fi￭ br￭ in protein the substance making up a thro￭ m￭ bus is sometimes called cru￭ or a thro￭ m￭ bus is a healthy response to injury intended to prevent bleeding but can be harmful in thro￭ m￭ bo￭ sis when clo￭ ts obstruct blood flow through healthy blood vessels m￭ ural thro￭ m￭ bi are thro￭ m￭ bi that adhere to the wall of a blood vessel they occur in large vessels such as the heart and a￭ or￭ ta and can restrict blood flow but usually do not block it entirely they appear grey red with altern￭ ating light and dark lines known as lines of zah￭ n which represent bands of fi￭ br￭ in lighter with entr￭ apped white blood cells and red blood cells darker
cu￭ taneous condition
a cu￭ taneous condition is any medical condition that affects the inte￭ g￭ um￭ entary system — the organ system that en￭ closes the body and includes skin hair nails and related muscle and g￭ lands the major function of this system is as a barrier against the external environment
a cu￭ taneous condition is any medical condition that affects the inte￭ g￭ um￭ entary system — the organ system that en￭ closes the body and includes skin hair nails and related muscle and g￭ lands the major function of this system is as a barrier against the external environment conditions of the human inte￭ g￭ um￭ entary system constitute a broad spectrum of diseases also known as der￭ mato￭ ses as well as many non￭ patho￭ logic states like in certain circumstances mel￭ an￭ ony￭ ch￭ ia and r￭ acqu￭ et nails while only a small number of skin diseases account for most visits to the physician thousands of skin conditions have been described classification of these conditions often presents many no￭ so￭ logical challenges since underlying eti￭ o￭ logies and patho￭ genetics are often not known therefore most current textbooks present a classification based on location for example conditions of the mu￭ co￭ us memb￭ rane mor￭ pho￭ logy chronic bl￭ is￭ tering conditions eti￭ ology skin conditions resulting from physical factors and so on clin￭ ically the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin le￭ sion s including the location such as arms head legs symptoms pr￭ ur￭ it￭ us pain duration acute or chronic arrangement solitary generalized ann￭ ular linear mor￭ pho￭ logy mac￭ ules pap￭ ules and color red blue brown black white yellow the diagnosis of many conditions often also requires a skin biopsy which yields his￭ to￭ logic information that can be correlated with the clinical presentation and any laboratory data
diabe￭ tic foot
a diabe￭ tic foot is a foot that exhi￭ bits any path￭ ology that results directly from diabetes mell￭ it￭ us or any long term or chronic complic￭ ation of diabetes mell￭ it￭ us presence of several characteristic diabe￭ tic foot patho￭ logies such as infection diabe￭ tic foot ul￭ cer and neuro￭ path￭ ic o￭ ste￭ o￭ ar￭ thro￭ pa￭ thy is called diabe￭ tic foot syndrome in diabetes peripheral nerve dysfunction can be combined with peripheral artery disease pad causing poor blood circulation to the extre￭ mi￭ ties diabe￭ tic an￭ gi￭ opathy around half of patients with a diabe￭ tic foot ul￭ cer have co existing pad
hic￭ key
a hic￭ key is a bru￭ ise or bru￭ ise like mark caused by the kissing or sucking of the skin usually on the neck or arm while biting might be part of giving a hic￭ key sucking is sufficient to burst small superficial blood vessels under the skin
a hic￭ key is a bru￭ ise or bru￭ ise like mark caused by the kissing or sucking of the skin usually on the neck or arm while biting might be part of giving a hic￭ key sucking is sufficient to burst small superficial blood vessels under the skin hic￭ keys typically last from 5 to 12 days and may be treated in the same way as other bru￭ ises ways to reduce the appearance of hic￭ keys include icing recent hic￭ keys to reduce sw￭ elling rub￭ bing them with a chilled spoon to remove the bru￭ ise and applying a warm com￭ press to older hic￭ keys to di￭ late vessels and promote blood flow they can be covered with a conce￭ al￭ er or powder corresponding to the suffer￭ er s skin tone or a fake tan alternatively articles of clothing such as scar￭ ves sno￭ ods turtle necks or sle￭ eves may be used to conceal hic￭ keys
mo￭ saic genetics
in genetics a mo￭ saic or mo￭ sa￭ ic￭ ism describes the presence of two or more populations of cells with different geno￭ types in one individual who has developed from a single fertili￭ zed egg 1 mo￭ sa￭ ic￭ ism has been reported to be present in as high as 70 of cle￭ av￭ age stage embryos and 90 of bl￭ ast￭ oc￭ y￭ st stage embryos derived from in vitro fertili￭ zation 2
in genetics a mo￭ saic or mo￭ sa￭ ic￭ ism describes the presence of two or more populations of cells with different geno￭ types in one individual who has developed from a single fertili￭ zed egg 1 mo￭ sa￭ ic￭ ism has been reported to be present in as high as 70 of cle￭ av￭ age stage embryos and 90 of bl￭ ast￭ oc￭ y￭ st stage embryos derived from in vitro fertili￭ zation 2 genetic mo￭ sa￭ ic￭ ism can result from many different mechanisms including chro￭ mo￭ some non dis￭ junction an￭ aph￭ ase lag and endo￭ replic￭ ation 2 an￭ aph￭ ase lagging is the most common way by which mo￭ sa￭ ic￭ ism arises in the pre￭ implan￭ tation embryo 2 mo￭ sa￭ ic￭ ism can also result from a mutation in one cell during development in which the mutation is passed on to only its daughter cells therefore the mutation is only going to be present in a fraction of the adult cells 1 genetic mo￭ sa￭ ics may often be confused with chim￭ er￭ ism in which two or more geno￭ types arise in one individual similarly to mo￭ sa￭ ic￭ ism however the two geno￭ types arise from the fusion of more than one fertili￭ zed zy￭ go￭ te in the early stages of embryonic development rather than from a mutation
noise induced hearing loss
noise induced hearing loss ni￭ hl is hearing impairment resulting from exposure to loud sound people may have a loss of perception of a narrow range of frequencies impaired cognitive perception of sound or other impairment including sensitivity to sound or ringing in the ears
post thro￭ m￭ bo￭ tic syndrome
neglected tropical diseases
neglected tropical diseases nt￭ ds are a diverse group of tropical infections which are especially common in low income populations in developing regions of africa asia and the americas they are caused by a variety of pathogens such as viruses bacteria proto￭ zo￭ a and hel￭ min￭ ths these diseases are contr￭ asted with the big three diseases hiv aids tuberculosis and malaria which generally receive greater treatment and research funding in sub saharan africa the impact of these diseases as a group is comparable to malaria and tuberculosis n￭ td co infection can also make hiv aids and tuberculosis more deadly
neglected tropical diseases nt￭ ds are a diverse group of tropical infections which are especially common in low income populations in developing regions of africa asia and the americas they are caused by a variety of pathogens such as viruses bacteria proto￭ zo￭ a and hel￭ min￭ ths these diseases are contr￭ asted with the big three diseases hiv aids tuberculosis and malaria which generally receive greater treatment and research funding in sub saharan africa the impact of these diseases as a group is comparable to malaria and tuberculosis n￭ td co infection can also make hiv aids and tuberculosis more deadly in some cases the treatments are relatively inexpensive for example the treatment for sch￭ is￭ to￭ som￭ i￭ asis is us 0 20 per child per year nevertheless control of neglected diseases is estimated to require funding of between us 2 billion to us 3 billion over the next five to seven years some pharmaceutical companies have committed to don￭ ating all the drug therapies required and mass drug administration for example mass de￭ wor￭ ming has been successfully accomplished in several countries however preventative measures are often more accessible in the developed world but not universally available in poorer areas seventeen neglected tropical diseases are priori￭ tized by who though other organizations define nt￭ ds differently these diseases are common in 149 countries affecting more than 1 4 billion people including more than 500 million children and costing developing economies billions of dollars every year they resulted in 142 000 deaths in 2013 — down from 204 000 deaths in 1990 of these 17 two were targeted for eradication dr￭ ac￭ un￭ cu￭ li￭ asis guinea worm disease by 2015 and ya￭ ws by 2020 and four for elimination blin￭ ding tr￭ ach￭ oma human african try￭ pan￭ o￭ som￭ i￭ asis leprosy and lymp￭ h￭ atic fil￭ ari￭ asis by 2020
auto brew￭ ery syndrome
auto brew￭ ery syndrome also known as gut fermentation syndrome is a rare medical condition in which in￭ tox￭ ic￭ ating quantities of ethanol are produced through endo￭ genous fermentation within the dig￭ estive system one gastro￭ intest￭ inal organism sac￭ char￭ om￭ y￭ ces cere￭ visi￭ ae a type of ye￭ ast has been identified as a pathogen for this condition claims of endo￭ genous fermentation of this type have been used as a defense against drunk driving charges one case went un￭ detected for 20 years it has also been investigated but eliminated as a possible cause of sudden infant death syndrome
auto brew￭ ery syndrome also known as gut fermentation syndrome is a rare medical condition in which in￭ tox￭ ic￭ ating quantities of ethanol are produced through endo￭ genous fermentation within the dig￭ estive system one gastro￭ intest￭ inal organism sac￭ char￭ om￭ y￭ ces cere￭ visi￭ ae a type of ye￭ ast has been identified as a pathogen for this condition claims of endo￭ genous fermentation of this type have been used as a defense against drunk driving charges one case went un￭ detected for 20 years it has also been investigated but eliminated as a possible cause of sudden infant death syndrome a variant occurs in persons with liver ab￭ norm￭ alities that prevent them from ex￭ cre￭ ting or breaking down alcohol normally patients with this condition can develop symptoms of auto brew￭ ery syndrome even when the gut ye￭ ast produces a quantity of alcohol that is too small to in￭ tox￭ ic￭ ate a healthy individual
falling accident
falling is the second leading cause of accidental death worldwide and is a major cause of personal injury especially for the elderly falls in older adults are an important class of preventable injuries builders electr￭ icians min￭ ers and pa￭ inters are occupations with high rates of fall injuries about 155 million new cases of a significant fall occurred in 2013 these un￭ intentional falls resulted in 556 000 deaths up from 341 000 deaths in 1990
visual snow
visual snow visual static or persistent visual snow is a transitory or persisting medical disorder in which sufferers see snow or television like static in parts or the whole of their visual fields constantly in all light conditions even visible in daylight darkness and with closed eye￭ li￭ ds the severity or density of the snow differs from one person to the next in many circumstances the condition negatively affects daily life making it difficult or impossible to read drive perform routine tasks see in detail even in bright daylight or focus correctly because of after￭ images and numerous other visual and non visual co morbi￭ dities as discussed below indeed medical literature refers to the condition as disab￭ ling and deb￭ il￭ itating the use of computer screens can exacerbate
uter￭ ine cancer
uter￭ ine cancer or wom￭ b cancer is any type of cancer that emerges from the tissue of the uter￭ us it can refer to several types of cancer with cer￭ vic￭ al cancer arising from the lower portion of the uter￭ us being the most common type worldwide and the second most common cancer in women in developing countries end￭ ome￭ trial cancer or cancer of the inner lining of the uter￭ us is the second most common type and fourth most common cancer in women from developed countries risk factors depend on specific type but obesity older age and human pap￭ il￭ lo￭ ma￭ virus infection add the greatest risk of developing uter￭ ine cancer early on there may be no symptoms but irregular vag￭ inal bleeding pel￭ vic pain or ful￭ l￭ ness may develop if caught early most types of uter￭ ine cancer can be cured using surgical
la￭ zar￭ us syndrome
la￭ zar￭ us syndrome also known as auto￭ resusc￭ itation after failed cardi￭ op￭ ul￭ mon￭ ary resusc￭ itation is the spontaneous return of circulation after failed attempts at resusc￭ itation its occurrence has been noted in medical literature at least 38 times since 1982 it takes its name from la￭ zar￭ us who in the new testament of the bible was raised from the dead by jesus
la￭ zar￭ us syndrome also known as auto￭ resusc￭ itation after failed cardi￭ op￭ ul￭ mon￭ ary resusc￭ itation is the spontaneous return of circulation after failed attempts at resusc￭ itation its occurrence has been noted in medical literature at least 38 times since 1982 it takes its name from la￭ zar￭ us who in the new testament of the bible was raised from the dead by jesus occurrences of the syndrome are extremely rare and the causes are not well understood one hypothesis for the phenomenon is that a chief factor though not the only one is the buil￭ dup of pressure in the chest as a result of cardi￭ op￭ ul￭ mon￭ ary resusc￭ itation c￭ pr the relaxation of pressure after resusc￭ itation efforts have ended is thought to allow the heart to expand triggering the heart s electrical impul￭ ses and re￭ starting the heartbeat other possible factors are hyper￭ kal￭ emia or high doses of ep￭ in￭ eph￭ rine
ol￭ ec￭ ran￭ on frac￭ ture
ol￭ ec￭ ran￭ on frac￭ ture is a frac￭ ture of the bon￭ y portion of the el￭ bow the injury is fairly common and often occurs following a fall or direct trauma to the el￭ bow the ol￭ ec￭ ran￭ on is the proxim￭ al extre￭ mity of the ul￭ na which is articulated with the hum￭ er￭ us bone and constitutes a part of the el￭ bow artic￭ ulation its sub￭ cu￭ taneous location makes it vulnerable to direct trauma powerful pull of the tric￭ eps muscle can also cause av￭ ul￭ sion fractu￭ res
me￭ ta￭ static liver disease
a liver me￭ tast￭ asis is a m￭ align￭ ant tumor in the liver that has spread from another organ affected by cancer the liver is a common site for me￭ ta￭ static disease because of its rich dual blood supply the liver receives blood via the he￭ p￭ atic artery and portal vein me￭ ta￭ static tumors in the liver are 20 times more common than primary tumors in 50 of all cases the primary tumor is of the gastro￭ intest￭ inal tract other common sites include the breast ov￭ aries bron￭ ch￭ us and kidney
hem￭ ati￭ dro￭ sis
mon￭ om￭ ania
in 19 th century psychiatry mon￭ om￭ ania from greek mon￭ os one and mania meaning madness or frenzy was a form of partial insan￭ ity conceived as single pathological preoccupation in an otherwise sound mind partial insan￭ ity variations of which enjoyed a long pre history in jurisprudence was in contrast to the traditional notion of total insan￭ ity exemplified in the diagnosis of mania as a global condition affecting all aspects of understanding and which reflected the position that the mind or soul was an indivisible entity coined by the french psychiatrist jean é￭ ti￭ enne dominique es￭ qui￭ rol 17￭ 72 – 18￭ 40 around 18￭ 10 mon￭ om￭ ania was a new disease concept characterised by the presence of an expansive id￭ ée fix￭ e in which the mind was dise￭ ased and der￭ ang￭ ed in some facets but otherwise normal
in 19 th century psychiatry mon￭ om￭ ania from greek mon￭ os one and mania meaning madness or frenzy was a form of partial insan￭ ity conceived as single pathological preoccupation in an otherwise sound mind partial insan￭ ity variations of which enjoyed a long pre history in jurisprudence was in contrast to the traditional notion of total insan￭ ity exemplified in the diagnosis of mania as a global condition affecting all aspects of understanding and which reflected the position that the mind or soul was an indivisible entity coined by the french psychiatrist jean é￭ ti￭ enne dominique es￭ qui￭ rol 17￭ 72 – 18￭ 40 around 18￭ 10 mon￭ om￭ ania was a new disease concept characterised by the presence of an expansive id￭ ée fix￭ e in which the mind was dise￭ ased and der￭ ang￭ ed in some facets but otherwise normal in others es￭ qui￭ rol and his circle deline￭ ated three broad categories of mon￭ om￭ ania coherent with the traditional tripartite classification of the mind into intellectual emotional and vo￭ li￭ tional fac￭ ul￭ ties emotional mon￭ om￭ ania is that in which the patient is obsessed with only one emotion or several related to it intellectual mon￭ om￭ ania is that which is related to only one kind of deli￭ ri￭ ous idea or ideas although mon￭ om￭ ania was retained as one of seven recognized categories of mental illness in the 18￭ 80 us census its importance as a psychiatric diagnostic category was in decline from the mid 19 th century
hyper￭ vis￭ cos￭ ity syndrome
hyper￭ vis￭ cos￭ ity syndrome is a group of symptoms triggered by increase in the vis￭ cos￭ ity of the blood symptoms of high blood vis￭ cos￭ ity include spontaneous bleeding from mu￭ co￭ us memb￭ ran￭ es visual disturbances due to re￭ tin￭ opathy and neuro￭ logic symptoms ranging from headache and ver￭ ti￭ go to seizures and coma hyper￭ vis￭ cos￭ ity occurs from patho￭ logic changes of either cellular or protein fractions of the blood such as is found in poly￭ cy￭ them￭ ias multiple my￭ el￭ oma particularly ig￭ a and ig￭ g 3 leuk￭ emia mono￭ cl￭ onal gam￭ m￭ opath￭ ies such as wal￭ den￭ ström macro￭ glob￭ ul￭ in￭ emia sick￭ le cell an￭ emia and sep￭ sis
anti n￭ m￭ da recep￭ tor en￭ ce￭ ph￭ ali￭ tis
anti n￭ m￭ da n methyl d as￭ part￭ ate recep￭ tor en￭ ce￭ ph￭ ali￭ tis also termed n￭ m￭ da recep￭ tor anti￭ body en￭ ce￭ ph￭ ali￭ tis is an acute form of en￭ ce￭ ph￭ ali￭ tis that is potentially lethal but has a high probability for recovery with treatment it is caused by an auto￭ immune reaction primarily against the nr 1 sub￭ unit of the n￭ m￭ da recep￭ tor different descriptions and syndro￭ mal designations for this disease existed in medical literature prior to 2007 but it was then that the disease was officially categ￭ orized and named by dr jose￭ p dal￭ ma￭ u and colleagues
ste￭ at￭ op￭ y￭ gia
ste￭ at￭ op￭ y￭ gia is the state of having substantial levels of tissue on the but￭ toc￭ ks and thi￭ ghs this build is not confined to the glu￭ teal regions but extends to the outside and front of the thi￭ ghs and tap￭ ers to the knee producing a cur￭ vac￭ eous figure the term is from the greek στ￭ έ￭ αρ st￭ é￭ ar meaning tal￭ low and π￭ υ￭ γή pu￭ g￭ ḗ meaning r￭ ump
oligo￭ astro￭ cy￭ tom￭ a
oligo￭ astro￭ cy￭ tom￭ as are a sub￭ set of brain tumors that present with an appearance of mixed gli￭ al cell origin astro￭ cy￭ tom￭ a and oli￭ god￭ end￭ rog￭ li￭ oma these types of gli￭ al cells that become can￭ cer￭ ous are involved with insulating and regulating the activity of ne￭ uron cells in the central nervous system often called a mixed gli￭ oma about 2 3 of all reported brain tumors are diagnosed as oligo￭ astro￭ cy￭ tom￭ a the median age of diagnosis is 42 5 oligo￭ astro￭ cy￭ tom￭ as like astro￭ cy￭ tom￭ as and oli￭ god￭ end￭ rog￭ li￭ om￭ as can be divided into low grade and an￭ ap￭ l￭ astic variant the latter characterized by high cellul￭ arity conspicuous cy￭ to￭ logic aty￭ p￭ ism mit￭ otic activity and in some cases micro￭ vascular proliferation and necro￭ sis
empty nose syndrome
empty nose syndrome ens is a rare clinical syndrome in which people who have clear nas￭ al passages experience a range of symptoms most commonly feelings of nas￭ al obstruction nas￭ al dr￭ y￭ ness and cru￭ sting and a sensation of being unable to breathe people who experience ens have usually undergone a tur￭ bin￭ ec￭ tomy removal or reduction of tur￭ bin￭ ates structures inside the nose or other surgical procedures that interfere with tur￭ bin￭ ates the overall incidence is unknown but it appears to occur in a small percentage of those who undergo nas￭ o￭ sin￭ al procedures it appears to be a health care caused condition but its existence as a medical condition cause diagnosis and management are controversial no one disputes that people with the symptoms suffer a great deal
mo￭ yam￭ o￭ ya disease
hill – sachs le￭ sion
a hill – sachs le￭ sion or hill – sachs frac￭ ture is a cor￭ tical depression in the poster￭ ol￭ ateral head of the hum￭ er￭ us it results from forceful imp￭ action of the hum￭ eral head against the an￭ ter￭ o￭ inferior glen￭ o￭ id rim when the shoulder is dis￭ located an￭ ter￭ ior￭ ly
chem￭ otherapy induced ac￭ ral er￭ y￭ them￭ a
war￭ far￭ in necro￭ sis
war￭ far￭ in induced skin necro￭ sis or more generally anti￭ co￭ ag￭ ul￭ ant induced skin necro￭ sis is a condition in which skin and sub￭ cu￭ taneous tissue necro￭ sis tissue death occurs due to acquired protein c deficiency following treatment with anti vitamin k anti￭ co￭ ag￭ ul￭ ants co￭ um￭ ad￭ ins such as war￭ far￭ in development of the syndrome is associated with the use of large loading doses at the start of treatment
war￭ far￭ in induced skin necro￭ sis or more generally anti￭ co￭ ag￭ ul￭ ant induced skin necro￭ sis is a condition in which skin and sub￭ cu￭ taneous tissue necro￭ sis tissue death occurs due to acquired protein c deficiency following treatment with anti vitamin k anti￭ co￭ ag￭ ul￭ ants co￭ um￭ ad￭ ins such as war￭ far￭ in war￭ far￭ in necro￭ sis is a rare but severe complic￭ ation of treatment with war￭ far￭ in or related anti￭ co￭ ag￭ ul￭ ants the typical patient appears to be an ob￭ ese middle aged woman median age 54 years male to female ratio 1 3 this drug eruption usually occurs between the third and tenth days of therapy with war￭ far￭ in derivatives the first symptoms are pain and red￭ ness in the affected area as they progress le￭ sions develop a sharp border and become pe￭ tec￭ hi￭ al then hard and pur￭ pur￭ ic they may then resolve or progress to form large irregular bloody bul￭ la￭ e with eventual necro￭ sis and slow healing es￭ ch￭ ar formation favored sites are breasts thi￭ ghs but￭ toc￭ ks and penis all areas with sub￭ cu￭ taneous fat in rare cases the fas￭ cia and muscle are involved development of the syndrome is associated with the use of large loading doses at the start of treatment
hospital acquired infection
hospital acquired infection hai — also known as no￭ so￭ com￭ ial infection — is an infection that is contracted from the environment or staff of a healthcare facility it can be spread in the hospital environment nursing home environment rehabilitation facility clinic or other clinical settings infection is spread to the susceptible patient in the clinical setting by a number of means health care staff can spread infection in addition to contaminated equipment bed lin￭ ens or air dro￭ ple￭ ts the infection can originate from the outside environment another infected patient staff that may be infected or in some cases the source of the infection cannot be determined in some cases the micro￭ organism originates from the patient s own skin micro￭ bio￭ ta becoming opportunistic after surgery or
hospital acquired infection hai — also known as no￭ so￭ com￭ ial infection — is an infection that is contracted from the environment or staff of a healthcare facility it can be spread in the hospital environment nursing home environment rehabilitation facility clinic or other clinical settings infection is spread to the susceptible patient in the clinical setting by a number of means health care staff can spread infection in addition to contaminated equipment bed lin￭ ens or air dro￭ ple￭ ts the infection can originate from the outside environment another infected patient staff that may be infected or in some cases the source of the infection cannot be determined in some cases the micro￭ organism originates from the patient s own skin micro￭ bio￭ ta becoming opportunistic after surgery or other procedures that compromise the protective skin barrier though the patient may have contracted the infection from their own skin the infection is still considered no￭ so￭ com￭ ial since it develops in the health care setting in the united states the centers for disease control and prevention estimated roughly 1 7 million hospital associated infections from all types of micro￭ organisms including bacteria and fun￭ gi combined cause or contribute to 99 000 deaths each year in europe where hospital surveys have been conducted the category of gram negative infections are estimated to account for two thirds of the 25 000 deaths each year no￭ so￭ com￭ ial infections can cause severe pneumonia and infections of the ur￭ inary tract blood￭ stream and other parts of the body many types are difficult to treat with antibiotics in addition antibiotic resistance can complicate treatment
pregnancy
pregnancy also known as gr￭ avi￭ dity or gest￭ ation is the time during which one or more offspring develops inside a woman a multiple pregnancy involves more than one offspring such as with twins pregnancy can occur by sexual inter￭ course or assisted reproductive technology it usually lasts around 40 weeks from the last men￭ str￭ ual period l￭ mp and ends in childbirth this is just over nine lun￭ ar months where each month is about 29￭ ½ days when measured from conception it is about 38 weeks an embryo is the developing offspring during the first eight weeks following conception after which the term fe￭ tus is used until birth symptoms of early pregnancy may include missed periods tender breasts naus￭ ea and v￭ om￭ iting hunger and frequent ur￭ ination pregnancy may be confirmed with a pregnancy
pregnancy also known as gr￭ avi￭ dity or gest￭ ation is the time during which one or more offspring develops inside a woman a multiple pregnancy involves more than one offspring such as with twins pregnancy can occur by sexual inter￭ course or assisted reproductive technology it usually lasts around 40 weeks from the last men￭ str￭ ual period l￭ mp and ends in childbirth this is just over nine lun￭ ar months where each month is about 29￭ ½ days when measured from conception it is about 38 weeks an embryo is the developing offspring during the first eight weeks following conception after which the term fe￭ tus is used until birth symptoms of early pregnancy may include missed periods tender breasts naus￭ ea and v￭ om￭ iting hunger and frequent ur￭ ination pregnancy may be confirmed with a pregnancy test pregnancy is typically divided into three trim￭ esters the first trim￭ ester is from week one through 12 and includes conception conception is when the sperm fertili￭ zes the egg the fertili￭ zed egg then travels down the fall￭ op￭ ian tube and attaches to the inside of the uter￭ us where it begins to form the fe￭ tus and plac￭ enta the first trim￭ ester carries the highest risk of mis￭ carriage natural death of embryo or fe￭ tus the second trim￭ ester is from week 13 through 28 around the middle of the second trim￭ ester movement of the fe￭ tus may be felt at 28 weeks more than 90 of babies can survive outside of the uter￭ us if provided high quality medical care the third trim￭ ester is from 29 weeks through 40 weeks pre￭ natal care improves pregnancy outcomes pre￭ natal care may include taking extra fol￭ ic acid avoiding drugs and alcohol regular exercise blood tests and regular physical examinations complications of pregnancy may include high blood pressure of pregnancy gest￭ ational diabetes iron deficiency an￭ emia and severe naus￭ ea and v￭ om￭ iting among others term pregnancy is 37 to 41 weeks with early term being 37 and 38 weeks full term 39 and 40 weeks and late term 41 weeks after 41 weeks it is known as post term babies born before 37 weeks are pre￭ term and are at higher risk of health problems such as cere￭ br￭ al pal￭ sy delivery before 39 weeks by labor induc￭ tion or ca￭ es￭ are￭ an section is not recommended unless required for other medical reasons about 213 million pregnancies occurred in 2012 of which 190 million were in the developing world and 23 million were in the developed world the number of pregnancies in women ages 15 to 44 is 133 per 1 000 women about 10 to 15 of recognized pregnancies end in mis￭ carriage in 2013 complications of pregnancy resulted in 293 000 deaths down from 377 000 deaths in 1990 common causes include maternal bleeding complications of abortion high blood pressure of pregnancy maternal sep￭ sis and obstructed labor globally 40 of pregnancies are un￭ planned half of un￭ planned pregnancies are abor￭ ted among unintended pregnancies in the united states 60 of the women used birth control to some extent during the month pregnancy occurred
teenage pregnancy
teenage pregnancy is pregnancy in human females under the age of 20 a girl can become pregnant from sexual inter￭ course after she has begun to o￭ vul￭ ate which can be before her first men￭ str￭ ual period men￭ arch￭ e but usually occurs after the onset of her periods in well nourished girls men￭ arch￭ e usually takes place around the age of 12 or 13 teenage pregnancies appear to be preventable by comprehensive sex education and access to birth control ab￭ stin￭ ence only sex education does not appear to be effective
mal￭ ing￭ ering
mal￭ ing￭ ering is fabric￭ ating or exagger￭ ating the symptoms of mental or physical disorders for a variety of secondary gain motives which may include financial compensation often tied to fraud avoiding school work or military service obtaining drugs getting lighter criminal sentences or simply to attract attention or sympathy mal￭ ing￭ ering is different from som￭ ati￭ zation disorder and fac￭ ti￭ tious disorder failure to detect actual cases of mal￭ ing￭ ering imposes a substantial economic burden on the health care system and false attribution of mal￭ ing￭ ering imposes a substantial burden of suffering on a significant proportion of the patient population according to the texas department of insurance fraud that includes mal￭ ing￭ ering costs the u s insurance industry approximately 150 billion ea
mis￭ op￭ hon￭ ia
da￭ ent￭ l town￭ send sie￭ gel syndrome
da￭ ent￭ l town￭ send sie￭ gel syndrome is a very rare disorder characterized by blue s￭ cler￭ ae kidney mal￭ function thin skin and hydro￭ cephal￭ us it was first identified by d l da￭ ent￭ l et al in 1978 da￭ ent￭ l town￭ send sie￭ gel syndrome is also known as hydro￭ cephal￭ us blue s￭ cl￭ era ne￭ ph￭ ro￭ pa￭ thy and famili￭ al ne￭ ph￭ ro￭ sis hydro￭ cephal￭ us thin skin blue s￭ cler￭ ae syndrome
de bar￭ sy syndrome
de bar￭ sy syndrome is a rare auto￭ som￭ al rec￭ essive genetic disorder symptoms include cu￭ tis la￭ xa loose hanging skin as well as other eye mus￭ cul￭ osk￭ el￭ etal and neuro￭ logical ab￭ norm￭ alities it is usually progressive manifest￭ ing side effects that can include clou￭ ded cor￭ ne￭ as cat￭ ar￭ acts short stature dy￭ st￭ onia or pro￭ geria premature aging alternative names for de bar￭ sy syndrome include cor￭ ne￭ al clou￭ ding cu￭ tis la￭ xa mental retar￭ dation cu￭ tis la￭ xa growth deficiency syndrome de bar￭ sy – mo￭ ens – di￭ er￭ c￭ ks syndrome and pro￭ ger￭ o￭ id syndrome of de bar￭ sy