406 results found for "WAS"
It is important to understand what congenital adrenal hyperplasia (CAH) is before the nature of 11 beta hydroxylase deficiency can be fully explained. CAH refers to any one of the many autosomal recessive illnesses that result from flaws in cortisol synthesis steps done by the adrenal glands. All of the types of CAH have either overproduction or malfunctioning of sex steroids. 11 beta hydroxylase deficiency is just one of the types of CAH and is a result of mutation in the gene called CYP11B1. This type is next only to 21-hydroxylase deficiency when it comes to its prevalence, comprising only 5-8% of the entire number of cases. [read more]
11Beta-hydroxysteroid dehydrogenase type 2 deficiency also known as (11beta-HSD2) is one of the most common causes of retention of sodium and serious cases of hypertension. This happens when glucocorticoids are admitted to the mineralocorticosteroid receptors which are non-selective. [read more]
The hormones estrogen and androgen play critical roles in the development of sexual organs. 17?-hydroxysteroid dehydrogenase isozyme (17?-HSD) acts as a catalyst between the biologically inactive and active types of hormones. Any deviation from this normal process results into various abnormal conditions. [read more]
1p36 deletion syndrome also known as monosomy 1p36 is a disorder of the chromosomes in which chromosome 1 loses the end part of its short arm. This disorder was first depicted during the late 90's and the early parts of 2000's. FISH testing is often required to be able to confirm a diagnosis. This condition can occur as a ?pure' case or it can occur together with other imbalances of the chromosome. [read more]
The disorder known as 22q11.2 deletion syndrome is caused by the deficiency or deletion of a tiny piece of chromosome 22. This deletion happens near the midsection of a chromosome located at q 11.2. [read more]
3-Beta-hydroxysteroid dehydrogenase deficiency (3B HSD) is a very rare disorder of the genes involving steroid biosynthesis. This deficiency results into the decrease on the production of adrenal steroid groups which are inclusive of glucocorticoids, mineralocorticoids, and the sex steroids. A decrease on the secretion of mineralocorticoid would result into various salt wasting degrees in males and females. And for the 46 XY males, a deficiency in androgen would result into ambiguous genitals (the females are seen with enlarged clitoris). [read more]
The enzyme called 3-Methyl Glutaconyl-CoA Hydratase is involved in amino acid (Leucine) metabolism. This enzyme is located in the mitochondria together with other enzymes of catabolic leucine. When an individual has a deficiency of 3-Methyl Glutaconyl-CoA Hydratase, 3-methylglutaconic acid is excreted massively and the impaired leucine breaks down. Very few patients have been reported with this type of deficiency but its occurrence is a reality, nonetheless. There a few severe clinical cases that have been reported which resulted because of this deficiency. Some patients have developed severe cardiopulmonary manifestations as soon as they were born; others have been reported to have psychomotor retardation; other cases include hypotonia, seizures, spasticity and thriving failure. Carnitine levels are at their lowest with this deficiency occurs. There are also rare cases of recurrent acidosis (seen in cases of fasting that has been prolonged). There was also a reported case of speech retardation. [read more]
3-Methylcrotonyl-CoA carboxylase deficiency is known by many names. It is also called as 3MCC deficiency, Methylcrotonylglycinuria type 1, or BMCC. This is a disorder that can be inherited where the human body becomes incapable of properly processing some proteins. Those who suffer from this deficiency have an insufficient supply of leucine-breaking enzyme. Leucine is an amino acid which is a protein base. [read more]
3C syndrome is also known as cranio-cerebello cardiac (CCC dysplasia) or Ritscher-Schinzel (named after Ritscher and Schinzel who discovered the illness) and is a very rare case of disease. This syndrome is characterized by heart defects or heart malformations and other symptoms that involve the brain. As of 2006, a Kuwaiti medical journal showed that only 30 cases have been reported worldwide and these cases were discovered in Europe and North America. Due to the limited number of cases reported, this disease was classified as a rare type of illness. The molecular basis for this syndrome is still unknown. [read more]
3M syndrome is known by many names. It can also be called as Three M syndrome or dolicospondylic dysplasia; le Merrer syndrome or gloomy syndrome (because prevalent symptoms show malformities on the patients' faces). This is a very rare illness where only 32 patients have been reported to have acquired it. Its name originated from the names of the authors who first described the characteristics of the illness. The authors' names were Miller, J.D., Malvaux P. and the third is McKusick, V.A. No mental retardation has been mentioned as a result of 3M. This disorder is known as an autosomal recessive trait of the genes and can be inherited. [read more]
47 XXY syndrome is popularly known as the Klinefelter's syndrome, or simply, the XXY syndrome. Chromosome aneuploidy causes the occurrence of this condition. The male patients develop an extra X chromosome. Typically, males should have one each of the X and the Y chromosomes. Patients who suffer from this condition have smaller testicles when compared to their normal male counterparts and thus, they acquire problems on infertility. There are very few symptoms to this syndrome and the cases vary among boys and men. The term for this illness was named after an endocrinologist, Harry Klinefelter. 1942 was the year when he first described the XXY syndrome. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males. [read more]
The XYY syndrome should never be interchanged with the XXY syndrome which is popularly known as the Klinefelter's syndrome. XYY syndrome is a condition when a male patient acquires an extra Y chromosome in addition to the normal one X and one Y chromosomes. It is often argued whether the term ?syndrome' should be used in connection to the XYY condition since the patients' phenotypes are normal and they do not have knowledge of their karyotype. [read more]
48 XXXX syndrome is a very rare disorder of the chromosomes where the normal XX combination becomes a quadruple X grouping. This condition is also called tetrasomy X, 48, XXXX or quadruple X and is only seen among females as there is no Y chromosome involved. The first occurrence of this disorder was discovered in 1961 and since then, there are about 100 reported cases globally. [read more]
Aagenaes syndrome is a condition which is characterized by inborn hypoplasia of the lymph vessels. This eventually causes recurring cholestasis on the formative years lymphedema on the legs. This could develop into hepatic cirrhosis and giant cell hepatitis (which could occur with portal tract fibrosis). The name of Aagenaes syndrome was derived from a pediatrician in Norway named Oystein Aagenaes. The name was finalized in 1968 when the condition was first described by Aagenaes. It is sometimes called cholestasis-lymphedema syndrome or simply CLS. [read more]
Aase Smith syndrome also known as Aase syndrome is a very rare disorder that can be inherited. It is often characterized by skeletal and joint defects. Aase syndrome is known as an autosomal dominant condition. The genetic origin of the illness is still not known. Anemia which results from this syndrome is often caused by the underdevelopment of bone marrows. These bone marrows are where formation of blood cells takes place. The syndrome was named after two pediatricians who were David Weyhe Smith and Jon Morton Aase. [read more]
Abasia is a condition where the patient is unable to walk due to impaired muscle synchronization. This means that the patient lacks motor synchronization in walking. With this condition, the foundation of gait (this is the distance of the two feet when measured sideways) is not constant or cannot be measured. This often leads the patient to sway from side to side or in any other direction, nearly falls, only to recover in the end. There are many other medical conditions that are connected to this disorder: choreic abasia (brought about by chorea of the leg); paralytic abasia (this is a paralysis of the muscles in the legs); spastic abasia (a condition where the leg muscles stiffen because they do not coordinate properly); ataxic abasia (legs become ataxic); paroxysmal trepidant abasia (a condition where the legs become spastic); trembling abasia (by its name, it means trembling legs). Abasia often comes with astasis (this is the state of being unable to stand). This condition is also referred to as astasia-abasia. [read more]
Aberrant subclavian artery is also known as the aberrant subclavian artery syndrome. This condition is a rare anatomical variety of the source of the left or the right subclavian artery. This abnormality has the most number of cases when it comes to the anomaly of inborn vascular aortic arch. The aberrant artery commonly occurs just distal on the left portion of the subclavian artery. It then passes later to the mediastinum when it is on its way to the upper right extremities. This course may be the root cause of a vascular ring about the mediastinal makeup. [read more]
Accessory pancreas is a medical condition that is rare and in which there are little clusters of pancreatic cells that are distinct from the pancreas. This condition could occur in the mesentery of small intestines, duodenal walls, the upper portion of the jejunum or, in its rarest form?in the stomach walls, spleen, ileum or gallbladder. Accessory pancreas was first observed and described in 1859 by Klob. [read more]
The Achard Thiers syndrome, also called the Diabetic Bearded Woman syndrome or diabete des femmes a barbe, is a rare disease which occurs commonly among women who are in their postmenopausal stage. Its name was derived from the combination of the names of Joseph Thiers and Emile Achard. This is characterized by insulin-resistant type 2 diabetes mellitus (an example is glucosuria) and also indications of excess in androgen. This syndrome has the combined features of Cushing syndrome and Adrenogenital syndrome. It is a form of virilizing disease which is adrenocortical in origin. And since androgen is excessive on this disease, the common manifestations are masculinization (the voice pitch is lowered) and menstrual disorders (the menstrual flow can be sparse or non-existent). There are also cases of growth of ?manly hair' all over the body. The most common complication of this disorder is hirsutism. [read more]
Acheiropodia is a disorder that is autosomal recessive in nature and which results into hemimelia (or the lack of distal extremities formation). This is an inborn defect consisting of aplasia of the patient's feet and hands and also distal lower and upper extremities bilateral amputations. This disease is found almost solely in Brazil. Other terms for this disorder include Acheiropody, Horn Kolb syndrome and Aleijadinhos (the Brazilian kind). [read more]
Acholuric jaundice is a form of jaundice in which there is no bile in the urine. This is hereditary disorder in which bililrubin was not able to produce bile pigments causing now yellowish color on the organs and the skin. [read more]
Marco Fraccaro was the very first person to observe and record the description of achondrogenesis in the year 1952. Fraccaro used this name in description of a stillborn female who was afflicted with acute micromelia and apparent changes on her histological cartilage. This term was then coined to characterize many more acute kinds of chondrodysplasia among humans. The conditions were invariably lethal on pre and post births. When the 70's came, researchers have concluded that the disorder is a part of a heterogenous cluster of chondrodysplasias that are fatal to neonates. Histological and radiological measures have distinguished the achondrogenesis type 1 (which is the Fraccaro-Houston-Harris kind) and the type 2 (or the Langer-Saldino kind). 1983 marked a new radiological category of the disease (Types 1-4). This was done by Gorlin and Whitley and was adapted by the McKusick catalog. This classification describes types 1 and 2 as having similar femoral cylinder indeces (or Clfemur which is calculated as the length of the femur bone divided by the range of the width of the same bone. Both kinds have stellate elongated bones and crenated ilia. Both types 1 and 2 are characterized by several rib fractures. Type 3 has ribs that are non-fractured, mushroom-stemmed elongated bones, halberd ilia, and a Clfemur 2.8 to 4.9. The last type (type 4) has sculpted ilia, long bones that are well-developed, non-fractured ribs and Clfemur measured at 4.9 to 8.0. The late 80's was the time when mutations on the collagen II structure were depicted to cause achondrogenesis type 3 (which might also correspond to type 2). At present, only 3 variants of the disorder have been identified and they are type IA or the Houston-Harris type; type IB (or the Parenti-Fraccaro type); and type II (or the Langer-Saldino type). [read more]
Achromatopsia or ACHM is a condition where the patient is unable to perceive color. Although this name may also be used to refer to acquired defects such as cerebral achromatopsia or color agnosia, it normally refers to a congenital disorder of the vision which is autosomal recessive in nature. It can also be called rod monochromacy or total inborn color blindness. Patients with this kind of disorder manifest total absence of the cone cell activity through electroretinography. At least 4 causes are listed as congenital ACHM: ACHM2 and ACHM3; the third type is a cone photoreceptor transducin called GNAT2, ACHM4; the last cause is still unknown. [read more]
Acid maltase deficiency or AMD is a type of autosomal recessive disorder which is characterized by an extreme buildup of glycogen contained by vacuoles (in almost all cell types) that are lysosome-derived. Quantities of free extralysosomal glycogen that are in excess have also been depicted. AMD was first observed and described by JC Pompe in 1932 at Amsterdam. He reported a case of a baby girl, aged 7 months, who became chronically ill from what they believed to be pneumonia. The autopsy that was done later showed an uncommonly engorged heart but with normal valves. This condition was called cardiomegalia glycogenica diffusa by Pompe. He considered it as a disorder that is analogous to the von Gierke syndrome. This very first article was soon followed by reports that seemed similar. The two other authors described the children as afflicted with cardiomegaly and acute muscle weakness. They died in their early infancy. Their disease was linked to an excess in the deposition of glycogen in numerous tissues. This disorder was then named the Pompe disease and by the year 1957, it was typified as type 2 glycogenosis by GT Cori. [read more]
Syphilis is a venereal medical condition which is and which comes in two categories: acquired or congenital. Acquired syphilis is further divided into sub-categories which are early and late. The early stage consists of the primary, secondary and the early latent less than two years of being infected. The late sub-category is described as late latent greater than two years, tertiary which includes gummatous, neurological and cardiovascular involvement, the two latter forms are also termed as quartenary syphilis. [read more]
Acrocephaly is a rare congenital syndrome which is often characterized by a narrowing of the pulmonary valve, retardation of the patient's mental development, and a pointy skull (or the skull's loftiness). More often than not, the head of the patient appears cone-like. A term that is similar to acrocephaly is oxycephaly. Oxycephaly has features that are similar to acrocephaly such as the coronal sutre and other sutures that close prematurely. Oxycephaly is the most severe type of of all craniostenoses. [read more]
Acrodermatitis enteropathica is an autosomal recessive disease which affects zinc metabolism. This is characterized by periorificial (in the region of natural orifices) and in the limbs (acral dermatitis), loss of hair (also known as alopecia), and diarrhea. Having acquired zinc deficiency is somewhat similar to acrodermatitis enteropathica because it, too, can be congenital. The other known terms for acrodermatitis enteropathica are: Brandt syndrome, congenital zinc deficiency, and Danbolt-cross syndrome. [read more]
Acrodysplasia or acrocephalosyndactyly is an uncommon medical condition which is often characterized by a bulbous nose, bony growths, and loose extra skin throughout infancy. This is also a very rare genetic disease. A synonymous word is acrocephalosyndactyly. [read more]
Acrodystrophic neuropathy, also known as Morvan disease, is a rare autoimmune defect characterized by muscle malignancies, severe cramps, myotonia, delirium and insomnia. There are only about 14 recorded cases of the illness disease since it was first discovered. [read more]
Acrofacial dysostosis or Nager syndrome is a term that was coined by Nager and DeReynier in 1948. This condition is described as a syndrome which involves the upper limbs and skull. The most ordinary type of acrofacial dysostosis is the Nager Type (NAFD) of the so-called pre-axial acrofacial dysostosis. Generally, the effects of Nager type acrofacial dysostosis are palpebral fissures that are down-slanted; micrognathia; coloboma of the lower eyelids; and absent or hypoplastic radii or thumbs. [read more]
Acromegaly was derived from the Greek word ?akros' meaning ?extremities' or ?extreme' and ?megalos' which means ?large'. This is a syndrome which results as the pituitary gland has an overproduction of hGH or growth hormone following the closure of the epiphyseal plate. There are several disorders that could cause the pituitary gland to come up with this circumstance. Most of these conditions involve a tumor that produces GH which is derived from a distinctive cell type (called somatotrophs) and named pituitary adenoma. [read more]
Acromicric dysplasia is a very rare inherited illness that is often characterized by unusually short feet and hands, retardation of the patient's growth and delays on bone maturation which lead to short stature, and mild abnormalities of the face. The face often appears with a happy or ?smiling' expression thus the descriptive word geleophysic which is derived from the Greek word ?gelios' which means ?laughing' and ?phylis' meaning ?nature'. Most of the number of cases for this illness has occurred in random for no obvious reason (sporadic). It has not been ruled out, though, that this is an autosomal dominant inherited disorder. The disease database clearly indicates that acromicric dysplasia is similar to Geleophysic dwarfism (also known as Geleophysic dysplasia) and Focal mucopolysaccharidosis. [read more]
Actinomycosis (pronounced ak-tuh-nuh-my-KOH-sihs) is a rare and infectious bacterial disease among humans. This is generally caused by Propionibacterium propionicus and actinoyces israelii, A.gerencseriae. This condition is unlikely a polymicrobial infection. Actinomycosis is a sub-acute to chronic bacterial disease which is caused by the filamentous, anaerobic to microaerophilic, and gram positive bacteria that are non-acid fast. [read more]
Activated protein C resistance is a hemostatic disease which is characterized by a reduced anticoagulant response to APC or activated protein C. The result is a heightened risk of venous thrombosis. The activated protein C resistance or APCr was first studied and reported by Dahlback in 1993. Activated protein C with protein S as its co-factor degrades Factor VIIIa and Factor Va. Activated protein C resistance is the failure of protein C to cleave Factor VIIIa and/or Factor Va. This permits for a longer extent of thrombin generation and could proceed to the hypercoabulable phase. The most common form of hereditary resistance to activated protein C is Factor V Leiden. Acquired types occur together with elevated concentrations of Factor VIII. It has been evaluated that up to 64% of people who are afflicted with venous thromboembolism could also have activated protein C resistance. [read more]
Acute kidney failure is characterized by the sudden loss of the ability of the kidneys to perform its normal functions, which includes eliminating the excess waste and fluid from the blood. When the kidney is damaged and losses its filtering capability, a highly dangerous level of fluid may accumulate in the body. [read more]
Acute necrotizing ulcerative gingivitis or ANUG is characterized as a plymicrobial infection of the patient's gums that normally leads to bleeding, inflammation, necrotic gum tissue and deep ulcerations. Patients with this condition also suffer from fever and halitosisi. ANUG is also known as Vincent's angina, a popular term whioch was coined in WW1 when a great number of soldiers suffered from this condition. [read more]
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a rare hereditary disease that is the result of the lack of an enzyme required to convert fat to energy. People with MCADD cannot refrain from eating for very long. Fasting starts after the body has used all the food that the person has eaten, then begins to use the body's own fat to make energy. When people with MCADD fast, they can experience a variety of serious life threatening symptoms or even death. Persons with MCADD cannot utilize this fat to make energy, consequently, the body begins to fail and malfunction once the food the person has eaten runs out. [read more]
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a condition in which the body fails to oxidize fatty acids because an enzyme is either missing or not functioning correctly. Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (SCAD) is a rare condition that stops the body from converting certain fats into energy, especially during periods without food (fasting). People affected with this disorder are not able to break down a certain group of fats called short-chain fatty acids efficiently. Some affected infants will display vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), developmental delays, seizures, and a small head size (microcephaly). The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be activated by periods of fasting or during illnesses such as viral infections. In some cases, signs and symptoms may not exhibit themselves until adulthood, when some individuals may develop muscle weakness and wasting. Other people with gene mutations that can lead to this disorder may have such mild symptoms that they are never diagnosed. [read more]
Addiction was a term used to describe an attachment, devotion, dedication, inclination, etc. Nowadays, however, the term addiction is used to describe a recurring compulsion by an individual to engage in some specific activity, despite harmful consequences to the individual's health, social life, or mental state. The term is often reserved for drug addictions but it is sometimes applied to other compulsions, such as compulsive overeating and problem gambling. Factors that have been suggested as causes of addiction include biological/pharmacological, genetic, and social factors. [read more]
Adenylosuccinate lyase deficiency is a type of disorder of the purine metabolism that affects patients both behaviorally and biochemically. Patients afflicted with this disorder normally have autistic features and display some mild psychomotor delays. [read more]
Congenital adrenal hyperplasia (CAH) generally refers to several autosomal recessive medical conditions that are results from some biochemical pathway of the steroidogenesis of the cortisol from cholesterol by the patient's adrenal glands. Majority of these conditions involve lesser or greater production of sex steroids and can also greatly alter the development of primary and secondary sex characteristics in affected individuals. [read more]
An adrenal incidentaloma is an adrenal mass which is seen during the imaging for other causes that are non-adrenal related. This means that the lesion was discovered serendipitously. Adrenal incidentaloma is the most common adrenal disorder and it is found during 1-5% of CT scans for the abdomen. 5-10% of patients who are diagnosed with adrenal incidentaloma have masses that are non-functioning (this is based on postmortem examinations). This disease affects both males and females with most of the incidentalomas being hormonally inactive and benign. There are only a few numbers of cases where adrenalectomy is required (and this is done only when the lesion becomes functioning and malignant). The diagnostic assessment often evaluates the hormonal activity of the lesion and if it is malignant. Assessment of functions require plasma dihydroepiadosterone; urinary catecholamines for 24 hours and metanephrines; a low dosage of a test of dexamethasone suppression; serum ACTH; standing serum renin to aldosterone ration for hypertension and hypokalemia. The evaluation of the danger of malignancy requires MRI or CT scans; on CT lesions that are malignant are not regular, non-homogeneous and have great attenuation; for lesions that are MRI malignant, an clear concentration on T2 weighed image; it may also be useful to have CT guided cytology; there is also a need to exclude paechromocytoma before this procedure; [read more]
The more proper term for adrenogenital syndrome is congenital adrenal hyperplasia or CAH. This refers to numerous other autosomal recessive disor which result from biochemical paths of cortisol setoidogenesis from cholesterol done by the adrenal glands. Most number of these conditions could have lesser or greater sex steroid production and they can alter primary or secondary sex characteristic development among adults, children and infant patients. Only a few cases of people with CAH can be appropriated with intersex condition although this attracted the attention of the American public in the 90's and since then, there have been various accounts that have been circulated. It is estimated that 95% of CAH cases are caused by 21-hydroxylase deficiency. Conditions Caused by CAH The most common conditions that are caused by adrenogenital syndrome are: ambiguous genitals (in some female patients wherein it can be initially hard to know the exact sex of the infant); salt-wasting that causes vomiting (which may lead to dehydration and eventually?death); the early appearance of pubice or the occurrence failure or the delay of puberty (including sexual infantilism); too much facial hair; virilization; irregular menstrual periods during the adolescent stage; infertility caused by anovulation; and hypertension. [read more]
Adrenomyodystrophy is a rare genetic disease which is often characterized by chief adrenal insufficiency, acute psychomotor retardation, dystrophic myopathy, and an acutely swollen bladder which can result into death. [read more]
Still's disease was first discovered as a type of juvenile idiopathic arthritis that is common among children but is now also discovered to have a few cases in adults. The adult type is called the adult onset Still's disease (or AOSD). AOSD was first described by an English doctor in 1971. The physician's name was Bywaters who is also famous for his work on the crush syndrome. There are varying theories as to the cause of Still's disease. There is a suggestion that it originated from a microbacterial infection. To this day, the cause of the illness remains unknown. It is more securely established that the disorder's pathogenesis is autoimmune. [read more]
Agammaglobulinemia is also called hypogammaglobulinemia. It is the most ordinary type of primary immunodeficiency which accounts to about 50% of all the cases. The three major kinds can be defined as: early onset, late onset, and X-linked. It was only after more than 50 years since the clinical manifestation was first recorded in 1952 by a certain Bruton. He described that the defect on the molecule in XLA or X-linked agammaglobulinemia has been explicated. To honor Bruton, the responsible gene was named Btk which means Bruton tyrosine kinase. It is estimated that 90% of the patients with the early-onset kind of agammaglobulinemia and the lack of B cells have defects on their Btk genes. The late-onset type is often referred to as the CVID or Common Variable Immunodeficiency. The last type is the early-onset non-Bruton agammaglobuliemia with absent or just low serum immunoglobulin (or Ig). Most of the cases are representative of a very heterogenous group which includes Ig deficiency with an increase in immunoglobulin M or hyper-IgM syndrome. There are also some infants who have an initial reading of low Ig level which soon increases to the normal level. This is named as Transient Hypogammaglobulinemia of infancy. Currently, the production of defective antibodies and the low circulation of a number of B cells were descriptive of some female infants and some males who do not have any Btk defects. These records imply the participation of other genes. [read more]
Aging, also known as the cycle of life, is any form of change of an organism as time passes. There are many dimensions to aging such the physical, psychological, mental, and emotional aspects. For example, the time of reaction of a human being is lessened or slowed as he ages while his wisdom and knowledge of facts may improve. There should be a distinction between universal aging (where all people go through) and probabilistic aging (which is a type of aging that occurs only to some and not all individuals). An example of probabilistic aging is the manifestation of diabetes mellitus. Chronological aging refers to the actual age of an individual and it can clearly be distinguished from social aging (where the society expects people to behave in accordance to their age and status). The third type of aging is biological aging (which is the person's physical state as he ages). Age measurement is done through entire years or months in the case of infants. An individual's birthday is often a significant event. As to mental aging, it is a bit more challenging to categorize individuals under this type because an older person does not guarantee mental or emotional capacities that are greater than the younger generation. [read more]
AIDS means Acquired Immune Deficiency Syndrome which means that the person may get infected by the disease and it will then cause a weakening of his system that resists or fights disease. The disease is caused by the Human Immunodeficiency Virus or HIV. When the person gets infected by the virus, and the body creates its own ?antibodies? to fight off the infection, it is when he is called HIV positive. Thus, the person is called HIV positive when he has these HIV antibodies. However, being HIV positive is different from having AIDS. It is common to find HIV positive person who have lived for many years without getting AIDS although AIDS is generally developed from HIV. A person may get infected with HIV through different ways, such as through blood infection and through semen or vaginal fluids. Thus, having sex with a person with HIV, receiving blood or using the same syringe with the person with HIV may result into getting infected. A child usually gets infected with HIV if the mother has the virus. According to the Center for Disease Control and Prevention (CDC) it is estimated that there are around 1.2 million persons in the US are infected with HIV virus or have AIDS. Despite the number, the death rate due to AIDS has been reduced significantly since the time when it was the leading cause of death in the 90s. This is because of the new treatments available at present. HIV becomes AIDS when the immune system of the person infected with HIV is severely damaged. Thus, a person with no more than 200 CD 4 cells (less than 14% CD4 cells) in his body has AIDS. IF the person has AIDS he is more likely to get Pneumocystis pneumonia (PC), a certain lung infection; a Kaposi's sarcoma, a skin cancer; a Cytomegalovirus or infection affecting the eyes and Candida or a fungal infection in the mouth or infections in the throat or vagina. These infections are called opportunistic infections or infections which take advantage of the weak immune system. There is no known cure for AIDS however, at present there are available drugs which slows then development or progress of the HIV virus. At the same time these drugs slows down the effect or the damage done by the HIV to the immune system. There are also other drugs to help the patient treat or prevent the opportunistic infections. The latest drugs available are very effective in reducing the rate of the common opportunistic infections [read more]
AIDS Dementia Complex (ADC) is one of the most common complications of HIV-1 infection. It is severe and is greatly associated with high morbidity. Its pathogenesis is still a mystery although as compared with other opportunistic infections of HIV, it is believed to be caused directly by the HIV-1 virus. ADC was first seen alongside the AIDS epidemic. As with the term, there is the persistent cognitive deterioration which not only affects the intellect of the patient but including the motor complex and behavior. Also, myelopahty is an important aspect of the ADC. The moment the patient is diagnosed with the ADC, it is staged according to the ADC Staging System. The staging is composed of five steps which are based on the cognitive and motor incapacity of the patient. The earlier stage is when there are neurologic symptoms but without the functional impairment and the advanced stage is when there is severe dysfunction. Generally, ADC affects the patient's cognition, motor skills and behavior. Usually the cognitive and motor skills are the first ones affected and the diagnosis is usually made when the patient manifest impairment of these skills. In a study conducted on the ADC, it was found that ADC is commonly found for those with advanced HIV-1 infection although it is also commonly found in those with preserved helper lymphocyte. This means that immunosuppression has an effect on the development of the complex. According to the data by the Community Programs for Clinical Research on AIDS (CPCRA), ADC is strongly associated with the advanced stage of HIV. Moreover it also showed that there is strong relationship between survival rate and the development of stage 2 and over of ADC. Compared with the mortality rate of Pneumocystic carinii pneumonia, the 6-months cumulative mortality rate of ADC is three times greater. Compared with other neurologic diseases it is almost the same is the 85% rate if PML, 70% of CNS lymphoma and 51% of cerebral toxoplasmosis. The high rate may be attributed to ineffectiveness of antiviral treatment, the vulnerability of neurologic debility and the hopelessness attitude of the caregivers. According to the most recent studies the HIV-1 plays a significant role in the development of ADC particularly those with severe cognitive dysfunction. It was found that it is due to the production of the macrophages and microglia by the HIV-1, which affects the neuronal dysfunction. There is also the activation of the cytokine circuits and the neuropahtologic sequelae which causes neurotoxicity. By identifying these factors doctors may soon find effective treatment for ADC. [read more]
Alagille-Watson syndrome (AWS) is one of the genetic disorders which affect the different systems of the body including the heart and the liver. The symptoms of the AWS are usually manifested during early childhood or infancy. It is hereditary and its prevalence rate is 1 in every 70,000. The symptoms if AWS varies per family that in some cases it is so mild that the symptoms are unnoticeable while in some cases the symptoms may be as severe as to require transplantation of the heart. When the symptom is liver damage, the patient may have Alagille syndrome which includes yellowing of the skin and whites of the eyes, xanthomas, itching and bile duct paucity. The patient may also have congenital heart problem and kidney problems. In other less common cases, the central nervous system is affected. As for the physical manifestation, those with AWS have the same facial features which includes broad forehead, small and pointed chin and deep-set eyes. The Alagille-Watson Syndrome is caused by the mutation in the JAG1 gene. This gene plays an important role in the signaling of cells during the embryonic development. The mutation of the gene then disrupts the signaling and thus it causes developmental errors of the body's system, such as the heart, liver, spinal column and facial features. In those with liver problems caused by the AWS, the bile ducts are narrowed and malformed. This then results in bile build ups and scarring which prevents the proper elimination of wastes in the blood. Usually the child inherits the altered gene from one parent although there are cases wherein the patient develops mutations of the gene. At present, there is still no known cure for the AWS and the treatment given to patients are targeted to the improvement of the affected system of the body, such as improvement of heart or liver condition. At the same time, the treatments are aimed also at reducing the effects of the affected system. For those with liver problems caused by AWS, there are several medications which are effective in improving the bile flow and in reducing the itching and this include Actigall, Atarax, Rifampicin, Cholestyramine and Phenobarbitol. Of course the effectiveness of the medication varies per patient. Doctors also recommend the high dosage of multivitamins especially vitamins A, D, E and K, since with the damage to the bile ducts the body will have difficulty absorbing these important vitamins. For those with heart defects caused by AWC, corrective surgery is sometimes necessary. [read more]
Allan-Herndon syndrome is categorized as an extremely rare hereditary disorder that causes severe mental retardation along with impaired speech ability, diminished muscle tone, as well as possible movement abnormalities. For most infants afflicted with this medical condition tend to develop normally during the first few months. However, when the child reaches more or less six months, the baby will appear weak and unable to hold up its head and may never learn to walk on their own. [read more]
Alveolar soft part sarcoma or ?ASPS?, which was first identified in 1952, is an extremely rare type of soft tissue sarcoma, a slow-growing tumor that occurs mainly in children and young adults. ASPS is a highly angiogenic disease, which involves an intensive production of new blood vessels connecting the tumor to the blood and enabling dissemination of tumor cells into the bloodstream. Because of this, tumor cells can easily transfer into various parts of the body, usually affecting the brain and lungs. ASPS is a sarcoma that affects soft tissues that connects and supports organs and structures of the body. It usually develops in the deep soft tissues and muscles of the leg or thighs, but could also appear in hands, head and neck. However, it could also spread and develop inside bones. [read more]
Extrinsic allergic alveolitis (EAA), also known as hypersensitivity pneumonitis, is an inflammation of the alveoli found in the lung. This condition is caused by hypersensitivity to various types of inhaled organic dusts. People with this disease are usually exposed to dust from their hobbies or occupations. Several types of extrinsic allergic alveolitis exist based on the provoking antigen. These include Bird-Breeder's Lung (avian proteins), Farmer's Lung (molds), Bagassosis (moldy bagasse or sugarcane), Malt Worker's Lung (moldy barley), Humidifier Lung (by mist of standing water). Mushroom Worker's Lung (mushroom compost), Compost Lung (compost), Peat Moss Worker's Lung (peat moss), Suberosis (moldy cork dust), Japanese Summer-Type HP (damp wood and mats) and Cheese-Washer's Lung (cheese casings). Other types of EAA include Hot Tub Lung, Mollusc Shell HP, Metalworking Fluids HP, Isocyanate HP, TMA HP, Beryllium and Wine-grower's Lung. The most common of all EAA are Bird-Breeder's Lung and Farmer's Lung, affecting 8 to 850 people in 100,000 persons each year for farmers alone and 6,000 to 21,000 people in 100,000 persons for pigeon breeders yearly. [read more]
Amnesia is a condition in which memory is disturbed. The generators of amnesia are organic or functional. It is the loss of recall; usually natural causes include damage to the brain, within trauma or disease, or use of specific drugs [read more]
Amyoplasia congenita is a birth disorder characterized by stiffness of the joints and muscle and nerve wastage that causes severe impairment and eventual immobility of the arms and legs. [read more]
Anal exudates are wastes, either in fluid or semi-solid form, which are released by the anus. They also referred to as feces. [read more]
Anal itching is characterized by an intense itching felt around the anus causing extreme discomfort. This medical condition is also called pruritus ani and can be caused by a number of irritants such as abrasion of the clothing, moisture or even pressure in sitting. [read more]
Anterior horn disease is a condition that affects the anterior horn cells, which are responsible for voluntary muscle activities, such as breathing, walking, swallowing and speaking. Anterior horn disease is characterized by the death of more neurons, which result in a prolonged and progressive motor weakness. Some patients with anterior horn disease are affected permanently. [read more]
Anthrax is an acute disease in animals and humans, which is caused by the bacterium ?bacillus anthracis?. Some types of anthrax are highly lethal. There are 89 types of anthrax recorded. Unlike other types of bacteria, anthrax can form long-lived spores. As soon as the life cycle of the bacteria is threatened by various factors, such as temperature change of dying host, the bacteria can transform into dormant spores, wait for another host and transfer to continue their life cycle. Anthrax usually occurs in wild and grass-eating mammals that breathe or ingest in the spores while eating grass. This disease can also be caught by humans exposed to dead infected pigs, high amounts of anthrax spores in animal wool, fur or hide and tissues from infected animals. While anthrax cannot be spread directly from one person to the next, human clothing can transfer the spores and when an infected person dies and the body is buried. [read more]
Apiphobia is the fear of bees or bee stings, a common phobia among people. Derived from the Latin words ?apis? for honeybee, Apiphobia is a specific phobia ? an abnormal fee of bees. Apiphobia is a type of zoophobia common in young children, which could prevent them from participating in any activities outdoors. Older people with Apiphobia can control this fear more easily. However, a few cases of Apiphobia in adults, such as Adam Savage of MythBusters, may show extreme fear of bees. One method of overcoming Apiphobia in children is to train them in facing their fears. [read more]
An error of metabolism that is inherent is known as Arakawa's syndrome II. A hereditary disorder caused by the absence of the enzyme tetrahydrofolate-methyltransferase. People who has this disease cannot properly digest methylcobalamin a kind of Vitamin B12. Other terms for this disease are Methionine synthase deficiency, N5-methylhomocysteine transferase deficiency and Tetrahydrofolate-methyltransferase deficiency syndrome. [read more]
Ocassionally it is called as Chiari II malformation or ACM, it is is a hereditary deformity of the brain. It is an unusual deformity where the support of the brain goes through the upper spinal canal. This disorder happens to approximately every child born with both spina bifida and hydrocephalus. Chiari malformations I, II and III is associated with the apparent irregularity of the hindbrain which was described by German pathologist Hans Chiari in the late 1800's. Afterwards, further investigators supplemented a fourth (Chiari IV) malformation. The severity scale is rated I ? IV, with IV as the most severe. Arnold Chiari Malformation particularly refers to the Chiari II malformation. [read more]
Arterial tortuosity is an unusual hereditary connective tissue disorder distinguished by elongated and widespread tortuosity of the main arteries involving the aorta. The autosomal recessive acquired and location of the gene responsible is in the chromosome 20q13. [read more]
Arthritis is a condition that usually involves damage on the joints of the body. For people older than fifty-five years, it is the leading cause of disability. Arthritis is a medicinal term, which mean any kind of joint swelling but the term is usually used to refer to age-related osteoarthritis that is the most usual kind. Though, there are other kinds of arthritis involving rheumatoid arthritis (second-most usual, involving younger adults and juveniles), and different kinds of minor arthritis which are caused by a primary condition: immediate arthritis caused by an infection, psoriatic arthritis from psoriasis, gonococcal arthritis from gonorrhea, and the like. Several probable circumstances with arthritis-like signs involve ankylosing spondylitis and gout. [read more]
Juvenile idiopathic arthritis (JIA) previously identified as juvenile rheumatoid arthritis (JRA) is the most ordinary type of unrelenting arthritis in children. Occasionally it is called as juvenile chronic arthritis (JCA) a term that is not exact as JIA does not include all types of persistent childhood arthritis. Arthritis causes the lining of the joint (synovium) to swell. JIA is a division of arthritis noticeable during childhood, which might be temporary and self-limited or persistent. It varies considerably from arthritis usually noticed in adults (osteoarthritis, rheumatoid arthritis), and other kinds of arthritis that can present in infancy which are persistent conditions. [read more]
Arylsulfatase A deficiency also referred to as Metachromatic leukodystrophy (MLD) is the very ordinary type of a family of hereditary ailments identified as the leukodystrophies, ailments that involves the enlargement and/or growth of myelin, the fatty layer which works as an insulator around nerve fibers all through the inner and marginal nervous systems. Arylsulfatase A results to a damaging swelling of fatty material in the body. [read more]
Ascariasis is a human infection caused by the parasitic roundworm Ascaris lumbricoides. Maybe one quarter of the world's inhabitants is infected and ascariasis is mainly common in humid regions and in regions of poor hygiene. Additional types of the species Ascaris are parasitic and can cause infections in domestic animals. Disease happens during eating of food contaminated with feces having Ascaris eggs. The larvae hatch hideaway all the way through the intestine, arrive at the lungs, and lastly travel up the respiratory tract. Starting there they are then re-swallowed and grow up in the intestine, growing up to 30 cm (12 in.) in length and securing itself to the intestinal wall. Diseases are typically asymptomatic especially if the quantity of worms is little. They may nevertheless be associated with swelling, fever, and diarrhea, and serious harms may extend if the worms travel to other portions of the body. [read more]
Astasia-abasia refers to the lack of ability to walk or stand normally. Individuals affected by this disease usually presents trouble in walking, tilting wildly in several directions and only falls when they a physician or family member is nearby. Patients cannot stand up straight except when assisted by someone. Although movements of the legs can be done normally while lying or sitting down. [read more]
Asthenia is a medical term referring to the feeling of weakness without actually losing strength. General asthenia happens to a lot of chronic wasting ailments like cancer and anemia and most likely developed in ailments of the adrenal gland. Asthenia may partially affect specific organs or systems. [read more]
Ataxia telangiectasia is a main immunodeficiency disorder that happens in an anticipated occurrence of 1 in 40,000 to 1 in 300,000 births. Other term for this disorder is Louis-Bar syndrome or Boder-Sedgwick syndrome. It is a congenital progressive multi-system ailment. Initially it starts as progressive cerebellar ataxia the followed by conjunctive and cutaneous telangiectasias, immune deficiencies, and recurrent sinopulmonary infections in later stages. There is also a related 100-fold augmented mortality danger. Cerebellar atrophy is most outstanding in the part of vermis as well as augmented neighboring cerebrospinal spaces and prominent folia using MRI. [read more]
Athetosis is a nonstop flow of sinuous, slow, writhing movements, usually of the hands and feet. Movements that are cause by athetosis are mainly referred to as athetoid movements. It was said that due to the damage to the corpus striatum of the brain and a cut to the motor thalamus that is why Athetosis happens. [read more]
Atrophy is a general physiological process, it is either the partial or complete wasting away of a part of the body or a part of the body being useless. Size of a cell, tissue or organ can be wasted away with this disorder. [read more]
Autoimmune hepatitis is an abnormal presentation of human leukocyte antigen (HLA) class II on the exterior of hepatocytes it might be because of the hereditary predisposition or severe liver infection that results to a cell-mediated immune response in opposition of the body's liver causing autoimmune hepatitis. [read more]
Baby acne pertains to a skin disease called acne vulgaris affecting newborn infants. Acne vulgaris (or acne) is characterized by inflammatory changes in the skin. Acne lesions are popularly known as pimples or zits, and are more common among adolescents. [read more]
Banti's syndrome is also referred to as Banti's disease is a persistent congestive enlargement of the spleen causing in the untimely damage of the red blood cells by the spleen. Though in the past Banti's syndrome describes patients with hypersplenism, splenomegaly and portal hypertension with no cirrhosis and with no occlusion of the portal venous system. [read more]
Bantu siderosis is the overload of iron primarily seen in South African people. It involves unusual iron deposits in the liver. It is said that several African people are liable to an augmented skill to absorb iron. Initially, this was said to be a cause of ungalvanised barrels utilized to keep home-made beer that led to augmented oxidation and augmented levels of iron in the beer. Additional researches show that only those individuals that drink this beer acquires an overload in iron and the same syndrome happened in the people of African descent. Because of this, researchers were led to discover the gene polymorphism in the gene for ferroportin that prompts several individuals of African descent to overload iron. [read more]
Baritosis a condition of the lung, that results from inhaling barium dust or barium that has compounds. It is a condition that is benign generally that does not result to symptoms except for irritation. On chest X-rays the particles of barium can be evident as an opaque shadow on individuals that has Baritosis. When contact to barium dust stops the abnormalities seen on chest X-rays slowly disappears. [read more]
Barth syndrome also recognized as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome it is an unusual hereditary disorder categorized by a lot of signs and symptoms and also includes motor skills being delayed, metabolism distortion, stamina deficiency, chronic fatigue, cardiomyopathy, delayed growth, and compromised immune system. The research or study of Dr. Peter Barth in the Netherlands and discovery in 1983 was the reason why the syndrome was named after him. He designed a pedigree chart where in it shows that the disease is an inborn behavior. [read more]
Bartonella infections previously known as Rochalimaea it is a genus of Gram-negative bacteria. Bartonella species may contaminate healthy people though are considered particularly essential as opportunistic pathogens. Bartonella is spread by insect vectors like fleas, ticks, sand flies and mosquitoes. It is known that eight Bartonella species or subspecies are recognized to infect humans. Bartonella rochalimae was the sixth species discovered in June 2007 that is recognized to infect humans and also the ninth species and subspecies generally recognized to infect humans. [read more]
Beals Syndrome, also known as Congenital contractural arachnodactyly or CCA, is a heritable disorder involving the connective tissue of the skeleton. It is related to, but distinct from, Marfan Syndrome. [read more]
Grooves across the fingernails or transverse lines are called Beau's lines. These nail abnormalities refer to shape, texture, abnormal color or thickness of the toenails or fingernails. With normal nail growth, the lines progress distally and eventually disappear at the free edge. [read more]
Becker's muscular dystrophy (BMD), also known as benign pseudohypertrophic muscular dystrophy, is an X-linked inherited disorder that involves the slowly and progressive weakness of the muscle in the legs and pelvis. It is a type of dystrophinopathy, which includes a range of muscle diseaseswhere there is insufficient dystrophin produced in the muscle cells, resulting in instability in the muscle cell membrane's structure. [read more]
Becker's nevus is a skin disorder that predominantly affects males. The nevus mostly first appears as an irregular pigmentation (hyperpigmentation) on the torso or upper arm (though other areas of the body can be affected), and gradually enlarges in an irregular shape, becoming thickened and often developing abnormal hair growth (hypertrichosis). It is also known as Becker's pigmented hairy nevus, Becker nevus, Becker pigmented hairy nevus, Becker melanosis and pigmented hairy epidermal nevus. [read more]
Bee And Wasp Stings are insect stings brought about by bites of bees and wasps. Bees are fuzzy insects that feed on flowers while wasps are non-fuzzy insects closely related to bees but can also feed on animal food and other insects. The two insects may l [read more]
Beh?et's (pronounced ?BAY-sets') disease is a disease that causes symptoms in various parts of the body. It produces a group of symptoms that affect different body systems, including gastrointestinal, musculoskeletal, and the central nervous system. These symptoms include mouth or genital ulcers, skin lesions, and inflammation of the uvea which is an area around the pupil of the eye. Common symptoms include sores found in the mouth and on the genitals. More serious symptoms can include inflammation (combined with swelling, heat, redness, and pain) in the eyes and other parts of the body. [read more]
Behr's Syndrome is a rare inherited neurological condition named after Carl Behr, who first described it in 1909 as a syndrome of variable pyramidal tract signs. It is characterized by spastic paraplegia and sometimes optic atrophy. It is a hereditary familial syndrome that falls under ocular and neurologic disorders affecting both men and women. Behr's Syndrome starts in infancy with disturbed vision, disturbed coordination with ataxia, mental deficiency, and urinary sphincter weakness. Other characteristics include optic atrophy prevalent in males, scotoma, bilateral retrobulbar neuritis, nystagmus, progressive temporal nerve atrophy, increased tendon reflexes, Babinski sign, and incoordination. Its inheritance is autosomal recessive, meaning it is not linked to sex chromosomes, although heterozygotes may still manifest much attenuated symptoms. [read more]
Bejel, which was previously called endemic syphilis, is a nonsexually transmitted infection caused by treponemal spirochetes closely related to Treponema pallidum, the bacterium that causes the sexually transmitted disease syphilis. Bejel, yaws, and pinta are diseases closely related to syphilis. They mainly occur in the tropics and subtropics. Unlike syphilis, they are transmitted through skin contact, mostly between children living in poor hygienic conditions. Like syphilis, these diseases start with skin sores and have a latent period that is followed by more a destructive disease. Bejel occurs mainly in the warm arid countries like the eastern Mediterranean region and West Africa. Yaws occurs in equatorial countries. Pinta is most common among the Indians of Mexico, Central America, and South America. Although the bacteria that causes bejel, Treponema pallidum endemicum, is morphologically and serologically indistinguishable from Treponema pallidum pallidum, transmission of bejel is not venereal in nature, generally resulting from mouth-to-mouth contact, skin-to-skin contact, or sharing of domestic utensils, and the courses of the two diseases are vary somewhat. [read more]
Benign Prostatic Hyperplasia is the non-cancerous enlargement of the prostate gland; the male organ that produces semen. Enlargement of the prostate can put pressure to the urethra causing difficulty in urination. [read more]
Berdon's Syndrome, also known as Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), is a disorder of newborn babies, most prevalent in females, characterized by constipation and urinary retention, microcolon, giant bladder (or megacystis), hydronephrosis, intestinal hypoperistalis, and dilated small bowel. It results from a dysfunction of the smooth muscle in the abdomen and digestive system. This disorder prevents the intestines, stomach, kidneys, and bladder from functioning correctly. The pathological findings consist of a large quantity of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown origin. Experts disagree whether inheritance is autosomal dominant or recessive. In 1976, Berdon and company first described the condition in five female infants, two of whom were sisters. All had marked bladder dilatation and some had hydronephrosis and the external appearance of a prune belly. The infants also had microcolon and sverely dilated small intestines. [read more]
Beriberi is an ailment affecting the nervous system. It is caused by a deficiency in thiamine (vitamin B1). The etymology of the word is from a Sinhalese phrase meaning literally, "I cannot, I cannot", the word being repeated for emphasis. [read more]
Berlin breakage syndrome, also known as Nijmegen breakage syndrome (NBS) and Seemanova syndrome, is a rare syndrome that is characterized by chromosomal instability, maybe as a result of a defect in the Double Holliday junction DNA repair mechanism. It is a very rare syndrome characterized mainly by a small head, lowered immunity and heightened risk of cancer. The features of this condition are basically indistinguishable from the Nigmegen Breakage syndrome. The name comes from the Dutch city Nijmegen where the condition was first discovered. Most people with NBS originate from West Slavic regions. The largest number of them is Polish. [read more]
Berylliosis, also known as chronic beryllium disorder (CBD), is an occupational lung disease. It is a chronic allergic-type lung response and chronic lung disease that results from exposure to beryllium and its compounds. Berylliosis is incurable but its symptoms can be treated. [read more]
Bhaskar Jagannathan syndrome is an extremely rare genetic disorder that is characterized by the clustering of features like aminoaciduria, arachnodactyly, cerebellar ataxia, congenital cataracts, and delayed developmental milestones. It is a very rare syndrome characterized primarily by long, thin fingers, cataracts that form during infancy, amino acids in the urine, incoordination and delayed development. When the affected person was first reported, the author raised the question if it could be a new cerebro-oculo-renal syndrome. [read more]
Biliary atresia is a rare condition found in newborn infants in which the common bile duct between the liver and the small intestine is blocked or missing. If it goes unrecognized, the condition leads to liver failure but not to kernicterus. This is due to the liver still able to conjugate bilirubin, and conjugated bilirubin is not able to cross the blood-brain barrier. The only effective treatments for biliary atresia are certain surgeries, or liver transplantation. [read more]
Black Death, also known as the bubonic plague, was a pandemic disease that nearly wiped out Britain's population during the 14th century. It was thought to be caused by the bacterium Yersinia pestis, but recent studies attribute the plague to other diseases. [read more]
Bladder infection pertains to a bacterial infection affecting part or parts of the urinary tract. It is also alternatively known as urinary tract infection or UTI. [read more]
Bladder neoplasm (or bladder cancer) is a disease in which abnormal cells multiply and grow in number without control in the bladder. The bladder is a hollow, muscular organ that stores urine and is located in the pelvis. The most common type of bladder cancer starts in cells lining the inside of the bladder and is called urothelial cell or transitional cell carcinoma (UCC or TCC). [read more]
Blue cone monochromatism, also known as S-cone monochromacy, is a recessive disorder that is linked to the X-chromosome. The affected person's green and red cones are missing while the blue cone mechanism is dominant and functioning properly. Cases like these have been called incomplete achromatopsia, wherein color vision is only impaired and not wholly absent. [read more]
Body lice, or rickets, are parasitic insects that thrive in the human body and eventually cause typhus. This was once a dreaded disease during World War I. [read more]
Borreliosis, also known as Lyme disease, is an emerging infectious disease caused by bacteria from the genus Borrelia. The vector of infection is usually the bite of an infected black-legged or deer tick, but other carriers (including other ticks in the genus Ixodes) have been implicated. Borrelia burgdorferi is the leading cause of Lyme disease in the U.S. and Borrelia afzelii and Borrelia garinii are found in Europe. The disease presentation varies greatly, and may include a rash and flu-like symptoms in its initial stage, then musculoskeletal, neurologic, arthritic, psychiatric and cardiac manifestations. In a most of the cases, symptoms can be eliminated with antibiotics, especially if treatment begins early in the course of illness. Late or inadequate treatment often results to "late stage" Lyme disease that is disabling and difficult to treat. Controversy over diagnosis, testing and treatment has resulted to two different standards of care. [read more]
Bothriocephalosis (also known as Diphyllobothriasis) is an infection with an intestinal parasite. The parasite is a fish tapeworm known as Diphyllobothrium latum. Human infection is caused by eating undercooked fish contaminated with the bacteria. Adult tapeworms may infect humans, felines, canids, pinnipeds, bears, and mustelids, though the accuracy of the records for some of the nonhuman species is disputed. Immature eggs are passed in the feces of the mammal host (the definitive host, where the worms reproduce). [read more]
Bourneville's disease (also known as Tuberous sclerosis) is characterized by facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognised as angiofibromas. It produces tuberous sclerosis occurring in association with adenoma sebaceum. It is syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum (overgrowth of the sebaceous glands) of the face, hamartomatous tumours of the heart and kidney, and cerebral cortical tubers (hence the name "tuberous sclerosis"). It is heredofamilial and usually shows itself early in life. Females are more often affected by this disease than males. Incomplete forms of the syndrome can manifest. Bourneville's disease is transmitted as an autosomal dominant trait with variable expressivity. [read more]
Bovine TB is a disease that primarily attacks animals that can also be transmitted to humans through aerosols and intake of raw milk. This disease is common in under developed countries. [read more]
Brain cavernous angioma, also referred to as cerebral cavernous malformation (CCM), cavernous haemangioma, and cavernoma, is a vascular disorder of the central nervous system that may appear either sporadically or display autosomal dominant inheritance. [read more]
Brainerd diarrhea is a medical condition whereby there is the presence of an acute watery diarrhea lasting for more than four weeks and may occur as as result of an outbreak or due to sporadic cases. The disease is named after a town in Minnesota where the first outbreak was first recorded. [read more]
Osteogenesis imperfecta (OI, or sometimes known as Brittle Bone Disease) is a genetic bone disorder. People with this disease are born without the proper protein (collagen), or the ability to make it, usually because of a deficiency of Type-I collagen. People with OI either have lesser collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment can result to those with the condition to have weak or fragile bones. As a genetic disorder, brittle bone disease is an autosomal dominant defect. Most people with OI inherit it from a parent but it can also be an individual (as in de novo or "sporadic") mutation. [read more]
Bronchiolitis obliterans organizing pneumonia (or BOOP) is the inflammation of the bronchioles and surrounding tissue in the lungs. BOOP is often the result of a pre-existing chronic inflammatory disease like rheumatoid arthritis. BOOP can also be a side effect of certain medicinal drugs, such as amiodarone. In cases where no cause is detected, the disease is called cryptogenic organizing pneumonia. The clinical characteristics and radiological imaging resemble infectious pneumonia. However, diagnosis is suspected after there is no response to multiple antibiotics, and blood and sputum cultures are found to be negative for organisms. [read more]
Bronchopulmonary dysplasia involves the abnormal development of lung tissue. It is marked by inflammation and scarring in the lungs. It occurs most often in premature babies, who are born with underdeveloped lungs. "Broncho" is the name of the airways (the bronchial tubes) through which the oxygen we breathe travels into the lungs. "Pulmonary" refers to the lungs' tiny air sacs (alveoli), where carbon dioxide and oxygen are exchanged. "Dysplasia" means abnormal changes in the organization or structure of a group of cells. The cell changes in BPD occur in the smaller airways and lung alveoli, making breathing difficult and causing problems with lung function. [read more]
Brown-S?quard syndrome, also known as Brown-S?quard's hemiplegia and Brown-S?quard's paralysis, is a loss of motricity (paralysis and ataxia) and sensation as a result of the lateral hemisection of the spinal cord. Other names for the syndrome are crossed hemiplegia, hemiparaplegic syndrome, hemiplegia et hemiparaplegia spinalis and spinal hemiparaplegia. It is an incomplete spinal cord lesion characterized by a clinical picture reflecting hemisection of the spinal cord, often in the cervical cord region. It was initially described in the 1840s after Dr. Charles Edouard Brown-Sequard sectioned one half of the spinal cord. It is a rare syndrome, made up of ipsilateral hemiplegia with contralateral pain and temperature sensation deficits because of the crossing of the fibers of the spinothalamic tract. [read more]
The Brugada syndrome is a genetic disease that is marked by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is also known as Sudden Unexpected Death Syndrome (SUDS), and is the most commonly found cause of sudden death in young men without known underlying cardiac disease in Thailand and Laos. Although the ECG findings of Brugada syndrome were first reported among survivors of cardiac arrest in 1989, it was only in 1992 that the Brugada brothers recognised it as a distinct clinical entity, causing sudden death by resulting to ventricular fibrillation (a lethal arrhythmia) in the heart. [read more]
Bruton agammaglobulinemia was the first immunodeficiency disease to be described. Colonel Ogden Bruton noted in 1952 the absence of immunoglobulins in a young male with a history of pneumonias and other bacterial sinopulmonary infections. Bruton was also the first physician to furnish specific immunotherapy for this X-linked disorder by administering intramuscular injections of immunoglobulin G (IgG). The patient improved but died of chronic pulmonary disease in his fourth decade of life. This disorder is now formally known as X-linked agammaglobulinemia (XLA), and the gene defect has been mapped to the gene that codes for Bruton tyrosine kinase (Btk) at band Xq21.3. The BTK gene is big and consists of 19 exons that encode the 659 amino acids that form the Btk cytosolic tyrosine kinase. Mutations can happen in any area of the gene. Btk is needed for the proliferation and differentiation of B lymphocytes. In the absence of working Btk, mature B cells that express surface immunoglobulin and the marker CD19 are few to absent. The lack of CD19 is readily detected with fluorocytometric assays, and this finding usually easily confirms the diagnosis of XLA in a male. As Bruton originally described, XLA shows itself as pneumonias and other bacterial sinopulmonary infections in 80% of cases. Such infections that start in male infants as maternal IgG antibodies, acquired transplacentally, are lost. Thus, XLA is most often diagnosed when unusually severe or recurrent sinopulmonary infections occur in a male infant younger than 1 year. [read more]
The bubonic plague, also known as bubonic fever, is the best-known variant of the deadly infectious disease caused by the enterobacteria Yersinia pestis (Pasteurella pestis). The epidemiological use of the term ?plague? is currently applied to bacterial infections that cause buboes, although historically the medical use this term has been applied to pandemic infections in general. [read more]
Bulimia nervosa, more commonly known as bulimia or "mia", is an eating disorder in which the subject engages in recurrent binge eating followed by feelings of guilt, depression, and self-condemnation. The sufferer will then take part in compensatory behaviors to make up for the excessive eating, which are referred to as "purging". Purging can take the form of fasting, vomiting, using of laxatives, enemas, diuretics or other medications, or overexercising. [read more]
Campylobacteriosis is an infection caused by the bacteria campylobacter or most commonly known as C. jejuni. Considered as among the most common human bacterial infections, it can be transmitted in several ways such as fecal-oral, person-to-person sexual contact and ingestion of contaminated food or water. When infected with the bacteria, an inflammatory and sometimes bloody diarrhea or dysentery syndrome may be experienced. It may include cramps, fever and pain. Campyolabacteriosis is usually self-limiting. [read more]
Canavan disease is an autosomal recessive disorder that is the most common cerebral degenerative disease of infancy. The disease causes progressive damage to the brain's nerve cells. It is also a gene-linked, neurological birth disorder, wherein the white matter of the brain disintegrate into spongy tissue puzzled with microscopic fluid-filled spaces. The disease belongs to a group of genetic disorders called leukodystrophies, which are characterized by the degeneration of myelin. Myelin is an electrically insulating dielectric covering the phospholipids layer of neuron insulating the axon. Canavan disease hinders the body's normal production of myelin. Called the central nervous system's ?white matter,? this fatty membrane ensures that nerve impulses are properly transmitted. [read more]
Commonly called yeast infection or thrush, candidiasis is a fungal infection (mycosis) of any of the Candida species. The most common Candida specie is Candida albicans. Candidiasis includes infections that range from superficial, such as oral thrush and vaginitis, to systemic and potentially life-threatening diseases. The latter belongs to a category called candidemia are usually confined to severely immunocompromised persons. These include persons with cancer, transplant, and AIDS patients. [read more]
Canine distempers are a highly contagious disease that primarily affects dogs and other types of carnivores. This medical condition is still considered reasonably common despite decades of vaccinations. The severity of this disease can vary from mild to seriously fatal. [read more]
Cardiofaciocutaneous syndrome is a congenital anomaly characterized by mental retardation and marked with heart defects, ectodermal abnormalities as well as growth failure. This medical condition was first discovered in 1986, and to date, there are less than 300 recorded cases of this congenital disorder all over the world, and known to affect both sexes across all ethnic background. [read more]
Cenani Lenz syndactylism is a hereditary malformation syndrome that involves both the lower and upper extremity. It's an uncommon birth defect that's characterized by a variety of bone abnormalities. The syndrome was named after two medical geneticists; Turkish geneticist Asim Cenani, and German geneticist Widukind Lenz. [read more]
Centronuclear myopathy belongs to a group of rare diseases called congenital myopathies. Congenital myopathies are conditions wherein the cell's nuclei is located within the skeletal muscle cells, an abnormal condition. Normally, the nuclei would be positioned in the periphery of the cell, but with centronuclear myopathy the nuclei is in the center, hence the name. [read more]
CHARGE syndrome is a genetic disorder which consists of a set of congenital defects on newborn babies. It was first discovered in 1979 and the acronym was coined in 1981. The acronym CHARGE stands for Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth, Genital abnormalities and Ear problems. [read more]
The Chen Kung Ho Kaufman McAlister Syndrome is a congenital defect where children are born with micrognathia, Wormian bones, cleft palate, congenital heart disease, dislocated hips, preaxial polydactyly of the feet, bowed fibulae, missing tibia and abormal skin patterns. It is a rare disease with an unknown etiology. The syndrome was first described in 1975 by Chen-Kung Ho, RL Kaufman and WH McAlister at the Washington University. [read more]
Chikungunya is a rare viral fever spread by mosquitoes that contain an alphavirus. Its name comes from a Makonde word that literally means 'that which bends up', as the arthritic symptoms of the disease result to a stooped posture on the patient. It was first discovered in 1955 after 1952 outbreak along the Makonde Plateau, which is located in between Tanganyika and Mozambique. [read more]
Childhood disintegrative disorder or CDD is a condition that consists of a child's delayed development in social function, motor skills and language. It is also known as disintegrative psychosis or Heller's syndrome. It is similar to autism, but normal development is first seen before a sudden regression occurs. It is not easy to detect CDD on children during its early stages; the disorder would only be obvious when the child starts to lose his language skills. Some children seem to react to seizures and hallucinations, much to the surprise of their parents. This is often described as a devastating condition, since it affects the family's future. Child disintegrative disorder was first described by Thomas Heller in 1908. [read more]
The Chinese restaurant syndrome is a collection of ailments experienced by a person due to the lack of Vitamin B6. Some of these ailments include flushing, sweating, headache and pressure on the face or mouth. Most people believe that this syndrome is caused by monosodium glutamate (MSG), but scientific research has found no link between the two. [read more]
Chlamydia trachomatis is a bacterial specie under the genus Chlamydia. Unlike the two other species, Chlamydia trachomatis cannot be detected by using the Gram stain. It is the first kind of Chlamydia found in humans, and was discovered in 1907. C. trachomatis is made up of a pair of human biovars, trachoma and lymphogranuloma venereum. [read more]
Chondroectodermal dysplasia, also known as Ellis-van Creveld syndrome, is a kind of skeletal dysplasia caused by a genetic disorder. [read more]
Chordoma is a rare malignant neoplasm originating from the cellular sheddings of the notochord. The tumor thrives along the neuroaxis, and is commonly found at clivus and sacrum areas. It has three histological variants namely, classical, dedifferentiated, and chondroid. [read more]
Christmas disease, scientifically known as Hemophilia B, is a blood-clotting illness brought about by a mutation in the Factor IX gene which causes the lack of Factor IX. It is the second and less prevalent form of Hemophilia named after Stephen Christmas, the first patient diagnosed with the disease. [read more]
Chronic Berylliosis is the inflammation of the lungs due to inhaling fumes or dust contaning the element beryllium. This metal can be found in coal, soil and volcanic dust and is used in manufacturing and aerospace industries. This disease may appear even after 20 years after exposure to the said element. [read more]
Chronic kidney failure is a form of kidney failure which develops gradually with few signs and symptoms in the early stages. Kidney failure is a condition in which the kidneys are unable to filter fluid and waste resulting in their accumulation to dangerous levels in the body. [read more]
Chronic renal failure is the progressive and steady loss of the kidney's capability of excreting waste, concentrating urine, and conserving electrolytes. It's defined as permanent decrease in Glormerular Filtration Rate or GFR. This decrease in GFR is adequate enough to produce noticeable alterations in organ function and well-being. The condition is also known as Chronic Kidney Failure. [read more]
Cleft lip is a type of birth defect that happens when a fetus' nose and upper jaw tissues don't attach as expected at the time of fetal development, which results in a cleft or split lip. Generally, cleft lip doesn't lead to health problems and it's treatable. In a few cases, some cleft lip infants have trouble feeding. [read more]
Colibacillosis is an infection brought about by the Escherichia coli, or E. coli bacteria. [read more]
Colitis is a disease of the gastrointestinal tract primarily distinguished by colon inflammation. The disease causes sores and swellings, known as ulcers, in the large intestines' top layer lining. [read more]
Colorado tick fever (CTF) is defined as a tick-borne viral illness that was largely suffered by humans in the United States. This medical condition is usually caused by an infection that is directly related to the Colorado tick fever virus, which is recorded to be a type of Coltivirus genera.. [read more]
Congenital cystic adenomatoid malformation (CAM) is categorized as a highly distinct entity, which was discovered way back in 1949. CAM is characterized as a developmental hamartomatous, an abnormality of the lung that comes with an adenomatoid abundance of cysts that resemble bronchioles. [read more]
Congenital microvillus atrophy is identified to be one of the leading causes of secretory diarrhea during the infant's first weeks of life. A The medical term microvillus atrophy was initially used to categorize the disease way back in 1982. The typical clinical presentation of congenital microvillus atrophy includes the profuse watery secretory diarrhea that usually starts in the first few hours of life. [read more]
Conjunctivitis is an infection or inflammation of the eyelids' membrane lining known as conjunctiva. This tissue aids in maintaining the eyeball and eyelid moist. The disease is among the most treatable and widespread infections in adults and children. It is also frequently called ?pink eye?. [read more]
Cowpox or catpox is now an uncommon skin disease caused by a virus called cowpox that is transmitted by touching infected animals. In the 18th century, the disease was contracted when a person touches the udders of cow that are infected. Today, however, this disease that causes hands to develop postular lesions and the skin to have red blisters is usually transmitted by touching cats, hence it is also called cat pox. Interestingly, the cowpox virus proved to be useful in the past two centuries when it became the first vaccine for the smallpox. [read more]
Craniofacial dysostosis is a disorder that was first described by a French doctor named Octave Crouzon. The doctor found out that the patients who are affected by the disorder are a mom-and-daughter tandem, suggesting that craniofacial dysostosis is of genetic basis. [read more]
Crimean-Congo Haemorrhagic Fever It is the viral haemorrhagic fever of the Nairovirus group though it is mainly a zoonosis, erratic cases and outbreaks of CCHF can also affect humans. [read more]
Cryptosporidium infection is a gastrointestinal disease. [read more]
Cutaneous anthrax was once known as a rather obscure disease is now a household name, largely owing to the media hype since it was used bioterrorism agents in the past. There are three different types of anthrax: gastronintestinal, inhalational and cutaneous. Anthrax is actually categorized as a zoonotic disease, which means, it mainly affects animals and not humans. This disease can be contracted through handling contaminated excrement from the infected animals. [read more]
Cytomegalic inclusion disease is an infection or condition resulting from a form of herpes virus called ?cytomegalovirus'. This virus leads to cell enlargement of a number of organs, as well as the growth of ?inclusion bodies' in the nucleus or cytoplasm of the cells. A trademark of this infection is the episodic recurrence of symptoms all through life, due to its virus cycles of latency periods and active virus. [read more]
Perioral dermatitis is characterized as a type of facial rash that usually tends to occur just around the mouth region. Most skin condition manifests as red and often slightly bumpy or scaly in texture. It can gradually spread up around the nose area, and even move up to the eyes. [read more]
Diabetes mellitus, popularly known as "diabetes" is a chronic disease. It is associated with very high levels of the glucose sugar present in our blood. There are two mechanisms for diabetes, patients may experience either of the two to suffer from this disease. The first is that there is not enough production of insulin produced by the pancreas as a result, blood glucose level are lowered or type 1. The second is that the cells is not sensitive enough to the action of insulin or type 2. [read more]
Diabetis insulin dependent is also known as diabetes mellitus type 1. This is a chronic disorder of our system's failure to produce inadequate amount of insulin. Characteristics of this disease is loss of the beta cells which are responsible for producing insulin. These cells are found in the islets of Langerhans in our pancreas. This loss leads to insulin deficiency. There is no known measure to prevent this disease. Affected people mostly are healthy when this disease occurs. The cells sensitivity and responsiveness to insulin are not abnormal. This type of diabetes can affect both children or adults, although it was previously called "juvenile diabetes" as it usually affects children. [read more]
After solid foods are added to your baby's diet, when your baby is taking antibiotics or when breast-feeding mothers eat certain foods are the common factors for babies to have diaper rash ? a common form of inflamed skin (dermatitis). [read more]
Diverticulitis is a very common disease in the digestive system, specifically in the large intestine. This disorder developed from diverticulosis involving the formation of diverticula on the colon particularly on the outside part. It occurs if one of these many pouches or diverticula swells. [read more]
Down syndrome otherwise known as trisomy 21 is a disorder caused by the presence of an extra 21st chromosome. This disorder was termed as chromosome 21 trisomy in 1959 by J?r?me Lejeune. It is characterized by major and minor structural differences. Down syndrome is always associated with impairments of the cognitive ability and the physical growth. Facial appearance also is different. This disorder can be known even during pregnancy or right at birth. [read more]
Doxorubicin-induced cardiomyopathy is a condition that occurs as a reaction of the Doxorubicin. In this case, it targets the heart. [read more]
Dubowitz syndrome is a very rare genetic disorder. It is often characterized by microcephaly, slow to very retarded growth and a rather unusual facial appearance like having small or round or even triangular shaped with a pointed chin with either a broad or wide-tipped nose, and eyes which are usually wide-set and drooping eyelids. It was first described by English physician Victor Dubowitz in 1965. Majority of cases are from the Russia, United States, and Germany. It also appears to have an equal affect to different ethnicities and even genders. [read more]
is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children [read more]
Dupuytren's contracture is characterized of a fixed flexion contracture of the person's limbs where the fingers tend to bend towards the base of the palm and cannot be fully extended or straightened naturally. It disorder is named in honor of a particular surgeon named Baron Guillaume Dupuytren, who was the first to define a surgical operation to correct the said affliction. [read more]
Dysgraphia generally refers to extreme difficulty in handwriting. The condition is defined as a learning disability as a result of difficulty in expressing thoughts in writing and graphing. [read more]
Dyslexia is a specific learning difficulty that primarily involves reading and writing characterized by trouble in word-sounds processing and difficulty in short-term verbal memory; evidences are visible in spoken and written language. The condition is an impairment of the ability of the brain to translate written images received by the eyes into meaningful language. [read more]
Dyspraxia is a condition characterized by the brain's inability to process information resulting in messages not being properly addressed or transmitted ; can greatly affect planning what to do and how to do it. The condition is also known as Developmental Coordination Disorder (DCD), Motor Learning Difficulties, and Perceptuo-Motor Dysfunction. It was formerly termed as Clumsy Child Syndrome and Minimal Brain Damage. [read more]
Earwax blockage is the obstruction of the ear canal with cerumen. Cerumen or popularly known as earwax is part of the body's natural defenses that protects the ear canal by trapping dirt and slowing the growth of bacteria. [read more]
The inability of a man to maintain a firm erection long enough to have sex is called erectile dysfunction (ED). The condition is more common among older men but can occur at any age. Though the condition may not really be cause for concern from time to time, it can cause stress, relationship problems, and may affect self-esteem. [read more]
Ehrlichiosis was first discovered towards the end of the 19th century, which is a disease that is transmitted by ticks, otherwise known as tick-borne diseases. Among the very first victims identified were from Japan that was characterized by swollen lymph nodes and fever. In the South Central and Southeastern regions of United states, the lone s tar tick, known as Amblyomma americanum has been identified as the primary culprit of this medical condition. [read more]
Emery-Dreifuss muscular dystrophy is characterized by some form of a clinical triad consisting of joint structures that usually develop during early childhood. This is accompanied by the slow progression of muscle weakness as well as wasting that starts from the scapular down to the pelvic girdle, along with cardiac muscle involvement. [read more]
Endocarditis is characterized as an inflammation of the inner layer of the patient's heart, which is medically termed as the endocardium. Among the most common structures of this medical condition involves the heart valves. [read more]
Endocarditis occurs when bacteria settles in the heart. Because the valves of the heart don't have any blood supply of their own, mechanisms for defense such as the white blood cells cannot enter into the heart. In such case, if an organism like bacteria hold on the valves, which normally the body will not be able to get rid of. [read more]
Enetophobia is described as "a persistent, unwarranted, and abnormal fear of pins." Every year this very common phobia or fear causes so many people distress of being needless. To make things worst for such very distressing condition, most therapies usually take months or even years which at times will even require the person frequent and countless exposure to his fear. It is believed that the procedure is not only unnecessary, it also often worsen the condition. It is really cruel the fear can be eliminated with just 24 hours of commitment provided the right method is done to the patient. [read more]
Eneuresis, or enuresis, is a childhood disorder in which the child urinates while asleep. This is one of the pediatric issues common even today. [read more]
Eosinophilic gastroenteritis or EG is a heterogeneous condition which is usually rare and characterized by some patchy or diffuse infiltration of the gastrointestinal tissue. It is also classified into different clasifications like serosal, mucosal, and muscular types basing on the involvement depth. For this condition, any part of the gastrointestinal tract may be affected. Also an involvment of the isolated biliary tract was reported. Most of the time it is the stomach that is commonly affected, then the small intestine and then the colon [read more]
Epidermolytic hyperkeratosis is also called bullous congenital ichthyosiform erythroderma. This condition is a relatively rare autosomal ichthyosis which is dominant. It was first described in 1902 by Brocq as bullous a ichthyotic erythroderma to distinguish it from the congenital ichthyotic erythroderma. The defect which causes the condition is found to be in the genes for keratin 1 and 10. [read more]
Epilepsy juvenile absence otherwise known as absence seizures are one of the many kinds of seizures. These seizures are also sometimes called petit mal seizures in an older term. In Epilepsy juvenile absence, the person can appear to be without jerking or could also appear to be staring into a blank wall or without twitching any eye muscle. These periods could last for seconds, or for a longer time of ten seconds. People experiencing absence seizures at times tends to move from one place to another without even a purpose. [read more]
Ewing's sarcoma is also known as primitive neuroectodermal tumor and bone cancer. It is a disease that the cancer cell is found in the bone. |It is commonly occurs in pelvisc bone, the femur bone, humerus bone, and the ribs. [read more]
Familial amyloid polyneuropathy, otherwise known as Corino de Andrade's Disease, is a deadly and untreatable health condition that was first identified in the 1950s. This disease is characterized by amyloidogenic transthyretin protein that aer systematically deposited particularly in the peripheral nervous system of the body. [read more]
Familial paroxysmal peritonitis or also known as Familial Mediterranean fever is an inherited inflammatory disorder usually occurring among people with Mediterranean origin. A rare disorder, it is typically diagnosed during childhood. [read more]
Feline spongiform encephalopathy is one of the three kinds of Prion diseases that greatly affect humans and animals. It is a contagious disease that triggers the brain's function, making patients exhibit unusual, uncontrollable behaviors. This can be a fatal disease when not immediately treated. Other forms of Prion diseases include mad cow disease, mink encephalopathy, and the bovine spongiform encephalopathy. It is also called ?laughing disease?. [read more]
Fetal diethylstilbestrol syndrome is an extremely uncommon syndrome that occurs when a pregnant woman is exposed to a synthetic estrogen called diethylstilbestrol during her pregnancy. Diethylstilbestrol is used for the prevention of complications while pregnant, such as prematurity and miscarriage. Diethylstilbestrol ingestion during pregnancy may lead to cancerous birth defects in daughters of exposed mothers. The defect may not be obvious until the female child reaches maturity. [read more]
Fetal thalidomide syndrome primarily results from the utero exposure to thalidomide. This medical condition is typically characterized the anomalies in the mental function and fetal growth, as well as other abnormalities that may include facial, cardiac, limb, kidney, anal, spinal and CNS. Preganant women who are exposed to thalidomide during the first trimester of pregnancy has 10-15% of risk of embryopathy. [read more]
Filovirus is a group of viruses that generate hemorrhagic fever. Among the popular kinds of filovirus is the Ebola Marburg disease. It first had an outbreak in Zaire and Sudan in 1984. [read more]
Flavimonas oryzihabitans is considered to be a very uncommon bacterial infection that typically occurs in immunocompromised patients or those who are required to use catheters. Flavimonas oryzihabitans was previously named Pseudomonas oryzihabitans. Pseudomonas is a non-fermenting, ixidase-negative and gram negative bacillus which is normally found in sink drains, rice paddies and constantly damp environments. [read more]
Floating-Harbor syndrome is a rare genetic disease that usually features a short stature among infants. Affected children suffer from delayed bone age, slow development of expressive language abilities, and a triangular shaped face. It is an autosomal dominant disorder that was first described in 1973. [read more]
Floppy valve syndrome or also known as Mitral valve prolapse is characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. MVP, in its nonclassis form, carries a low risk of complications. Severe cases of MVP though may include complications such as infective endocarditis, regurgitation and in rare circumstances, cardiac arrest that usually results to sudden death. The term for the disease was coined by J. Michael Criley in 1966. It gained acceptance over JB Barlow's ?billowing? of the mitral valve description. MVP has different subtypes namely classic, nonclassic, symmetric, asymmetric, flail or non-flail. The subtypes are based on the leaflet thickness, convacity and type of connection to the mitral annulus. [read more]
Flynn-Aird syndrome is an extremely rare genetic disorder that is characterized by gradual neurological degeneration that is associated with symptoms such as ataxia, dementia, eye problems, muscle wasting and skin disorders. [read more]
Foix-Alajouanine syndrome is a spinal cord disease (a rare type). Foix-Alajouanine syndrome is a disorder caused by an arteriovenous malformation of the spinal cord. This often results to painful paralysis and muscle tone loss. It commonly afflicts people ages 20 to 40 years. If not promptly and properly treated, death may result within one to two years. [read more]
Foix-Chavany-Marie syndrome is a partial paralysis on the face, the pharynx and the jaw. Affected areas are still capable of certain movements like eating, smiling, and facial movements. Upper and lower limbs are usually unaffected. This syndrome is caused by blood supply loss or interruption in a specific part of the brain. This condition is also called bilateral anterior opercular syndrome. It was discovered in the year 1926 by Charles Foix, Jean Alfred ?mile Chavany and Julien Marie. [read more]
Forbes Disease occurs in 1 for every 100,000 live births. It is also called Cori's type III glycogenosis. It was Gerty Theresa Radnitz Cori and Gilbert Burnett Forbes who developed an accurate description of this condition. This rare disease is due to a missing enzyme which causes abnormal glycogen levels to be absorbed by the body, namely the liver and the skeleton musculature. [read more]
Formaldehyde is a highly toxic and flammable gas (when at room temperature). It has an irritating and penetrating odor that may or may not be easily detected. It is more commonly used for formalin solutions. Exposure to and contamination from harmful concentrations of this substance can cause Formaldehyde poisoning. [read more]
Friedreich's Ataxia is inherited. It damages the body's nervous system, the damage being of a progressive nature. It was Nicholaus Friedreich who in the 1860's named the condition ?Ataxia? to mean coordination problems like clumsiness and unsteadiness. Continual degeneration of nerve tissues in one's spinal cord causes it to thin overtime. This condition also affects nerves responsible for arm and leg muscle movements. [read more]
Galactosemia is a rare congenital metabolic disorder which undermines the affected individual's ability to properly metabolize galactose, one of the sugars found in dairy products. The disorder was first described in 1917 by Goppert, and later fully identified in 1956 by a group led by Herman Kalckar. The incidence ratio of classic type galactosemia is 1 per 47,000 births. Glactosemia is often confused with lactose intolerance. However, galactosemia is a worse condition. Individuals with lactose intolerance have an inherited shortage of the enzyme lactase. These individuals experience abdominal pains after ingesting lactose products but don't have long term effects. In galactosemia, individuals who are afflicted with this disorder tend to have permanent damage to their bodies. [read more]
Gastric cancer pertains to cancer of the stomach. Adenocarcinomas, lymphomas, carcinoid tumors, and gastrointestinal stromal tumors (GISTs) are the most common types of gastric cancer. [read more]
These are rare tumor of the gastrointestinal tract also known ?GIST'. GIST is a form of joint tissue cancer or sarcoma. GISTs are therefore non-epithelial tumors, separate from common forms of bowel cancer. [read more]
Gaucher disease is a commonly found lysosomal storage disorder, resulting from the deficiency of the glucocerebrosidase enzyme. The absence of this enzyme allows the collection of fatty material in organs like the brain, bone marrow, kidneys, spleen, lungs, and liver. The disease was originally described by French physician Philippe Gaucher in 1882. Type I, occurring in early life, occurs in 1 in 50, 000 live births and is most common among the Ashkenazi Jews. Type II, occurs in 1 in 100,000 live births, usually begins to manifest after 6 months of birth. Type III can begin at any time in life, and manifests in 1 in 100,000 live births. [read more]
Gaucher disease was first described in 1882 by Philippe Gaucher. Today, this is the most common lysosomal storage diseases, resulting in deficiency in glucocerebrosidase. As a result, fatty material settles in the liver, lung, spleen, brain, bone marrow, and kidneys. Type I which occurs in 1 out of 50,000 live births is most common among Ashkenazi Jews and usually manifest early in life or in adulthood. Type II Gaucher disease occurs in 1 out of 100,000 live births manifests after 6 months of age. Type III manifests in 1 out of 100,000 people as well, and occurs at any point in a person's life. [read more]
First described in 1882 by French physician Philippe Gaucher, Gaucher disease is one of today's most common lysosomal storage diseases. As a result of the lack of the enzyme glucocerebrosidase, fatty materials accumulate in the brain, bone marrow, liver, lung, spleen and the kidneys. This disease is characterized by autosomal recessive inheritance, and as such, is equally likely to affect both male and female individuals. [read more]
Genuphonia is an abnormal, persistent and irrational fear of knees or kneeling. Other names are fear or knee, fear of knees, knee fear, knee phobia, knees fear, knees phobia, phobia of knee and or phobia of knees. It is a persistent fear of knees that a person forces himself to avoid. [read more]
Gestational Pemphigoid or Pemphigoid Gestationis is an autoimmune disease that affects the skin by blisters for pregnant women during their second and third trimesters. It is not linked with herps virus though it was then called Herps Gestationis because of the blisters that appear in the skin. [read more]
Giant cell arteritis which is also called temporal arteritis is a disease the affects the blood vessels commonly the large and medium arteries in the head by inflammation. The name temporal artiritis come from the most involved vessel, which is the temporal artery. The giant cell arteritis was given because it reflects the type of inflammatory cell that is involved which can be seen on the biopsy. [read more]
Giardiasis is a condition wherein the flagellate protozoan Giardia lamblia resides in the digestive tract of both animals and humans. This condition also is the most common cause for gastroenteritis. [read more]
Gigantism is a condition wherein the human body grows excessively in height and weight during childhood, before the bone growth plates close, causing a person to live with overgrown bones. [read more]
Gingivitis, also known as inflammation of the gums, is a group of diseases that affect the gingival, or the gums. Its most common term, inflammation of the gums, is called so due to the occurrence when plaque or bacterial biofilms stick to the surfaces of the tooth. [read more]
Gingivostomatitis is a condition similar to cold sores. This form of herpes is common among children. [read more]
Glomerulosclerosis is a condition wherein the kidney's glomerulus hardens. It is a general condition that branches out to either focal segmental glomerulosclerosis, and nodular glomerulosclerosis, for diabetics. Both diseases are characterized by a scarring in the glomeruli. [read more]
Gross hematuria is in contrast to microhematuria in which the blood is visible only under a microscope: there is so little blood that it is difficult to be seen without magnification. [read more]
Gum cancer is any abnormal growth that develops in the gum tissues. It is also called gingival cancer. [read more]
Gingivitis ("inflammation of the gums") (gingiva) around the teeth is a general term for gingival diseases affecting the gingiva (gums). As usually used, the term gingivitis refers to gingival inflammation induced by bacterial biofilms (also called plaque) adherent to tooth surfaces. [read more]
Gynecomastia, or gynaecomastia, is the development of abnormally large mammary glands in males resulting in breast enlargement, which can sometimes cause secretion of milk. [read more]
Halitosis, oral malodor (scientific term), breath odor, foul breath, fetor oris, fetor ex ore, or most commonly bad breath are terms used to describe noticeably unpleasant odors exhaled in breathing ? whether the smell is from an oral source or not. [read more]
Hansen's disease, more commonly known as leprosy, is a chronic contagious disease that causes severe disfigurement on the skin, face, hand and feet. It was once a dreaded epidemic. [read more]
Helicobacter pylori is a gram-negative, microaerophilic bacterium that infects various areas of the stomach and duodenum. [read more]
Hemifacial microsomia is a congenital disease wherein the lower half of the face is undeveloped. The parts most commonly affected are the mandible, ears, and mouth, and can affect either one side of the face or both. Hemifacial microsomia may lead to complications in breathing, as it may obstruct the trachea. [read more]
Hendra virus is a strain of virus under the Paramyxoviridae family. It was first described in 1994 during an outbreak of neurological and respiratory disease in humans and horses in the Hendra suburb of Brisbane, Australia. [read more]
Hepatorenal syndrome (HRS) refers to acute renal failure that arises in the setting of cirrhosis or fulminant liver failure associated with portal hypertension, generally in the absence of other disease of the kidney. [read more]
Angioedema, also known as Quincke's edema, is the rapid swelling (or edema) of the skin, mucosa and submucosal tissues. Aside from the common form, mediated by allergy, it has been reported as a side effect of some medications, specifically ACE inhibitors. [read more]
Leading to the development of small and usually painful blisters on the skin of the mouth, lips, gums or lip area, herpes labialis is an infection caused by the herpes simples. The blisters are commonly called fever blisters or cold sores. [read more]
Hidradenitis suppurativa is a chronic skin inflammation characterized by the presence of blackheads and one or more red, tender bumps (lesions). The lesions usually enlarge, break open and drain pus. Scarring may occur after several occurrences. [read more]
Human Parvovirus B19, a species of parvovirus that infects humans, is linked with the development of several different autoimmune diseases including dematomyositis, mixed connective tissue diseases, a lupus-like illness, a serologically negative (negative RA factor test) form of arthritis, granuloma annulare, autoimmune thyroid disease, autoimmune schizophrenia, and various forms of vasculitis, including Henoch Schonlein purpura, Kawasaki disease, Wegener's granulomatosis, and polyarteritis nodosa. The development of autoimmune conditions following Human Parvovirus B19 arises in people of all ages and occurs more frequently in females. Autoimmune disease development is also known to appear in adults exposed to children with fifth disease [read more]
Huntington's chorea is a disease causing certain of the brain's nerve cells to waste away. It is also called huntington's disease. [read more]
Hyperchylomicronemia, also known as hyperlipidemia or hyperlipoproteinemia, is characterized by elevated levels of lipids and/or lipoproteins in the blood. This lipid/lipoprotein abnormality, which is common in the general population, poses a high risk of developing into a cardiovascular disease because of the presence of high levels of cholesterol. Some forms of Hyperchylomicronemia may also lead to acute pancreatitis. [read more]
Hypermenorrhea (also know as menorrhagia) is when menstruation is excessively long-lasting or heavy. [read more]
Hyperprolinemia is a disorder resulting from excessive protein-building block (known as proline) in the patient's blood. This inherited condition has two types, namely Type I and Type II. [read more]
Hypotrichosis is a condition characterized by having a less than normal amount of hair on the head or body. Hypotrichosis is often confused with alopecia, or hair loss. In hypotrichosis as opposes to alopecia, there was never any hair in the first place. In hypotrichosis, the affected area is bald and remains bald for the rest of the life of the patient. There are three types of hypotrichosis, these are: 1.aplasia cutis congenita, a developmental disorder of unknown origin; 2.triangular alopecia, similar condition to aplasia cutis congenita but is distinguished by the identifying triangular patch in the head; 3.congenital atrichia, a congenital disorder where sometimes an individuals is born with a healthy head of hair but loses it at some point in his or her life. [read more]
An imperforate anus or anal atresia is a congenital defect in which the rectum is malformed. [read more]
Impetigo is a superficial bacterial skin infection most common among children age 2?6 years. Mostly people who play close contact sports such as rugby, American football and wrestling are also susceptible, regardless of age. The name is from the Latin impetere ("assail"). It is also called as school sores. [read more]
Sporadic inclusion body myositis (acronym: sIBM) is a rare condition marked by gradually progressive wasting and weakness of the proximal and distal muscles. This inflammatory muscle disease is most evident in the muscles of the legs and arms. Two progressive processes, one degenerative and the other autoimmune, seem to occur simultaneously in the muscle cells. In the autoimmune aspect, the T cells are cloned, seemingly driven by certain antigens to invade the fibers of the muscles. In the degeneration aspect, holes (vacuoles) appear in the muscle, with amyloid-related protein deposits and abnormal filamentous inclusions appearing in the cells. [read more]
Spinal Muscular Atrophy (SMA) is a term used to describe a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. [read more]
Intussusception is a medical condition where a section of the bowel folds towards another part or the rectal area. This is congenital disease. [read more]
Itch is defined as an unpleasant sensation that evokes the desire or reflex to scratch. Itch has many similarities to pain and both are unpleasant sensory experiences but their behavioral response patterns vary. [read more]
It was in the year 1966 that the Job syndrome was first described as the hyper-IgE/HIE or hyperimmunoglobulin E syndrome which is a very rare immunodeficiency disease. This disorder can be inherited in an autosomal dominant pattern. HIE has changing expressivity and is linked with several other abnormalities. The general findings are recurring abscesses of the skin (this is why it is called the Job syndrome, derived from the biblical character Job); high IgE serum levels; pneumonia which comes with pneumatocele development; and dental, facial or skeletal defects. Most cases of this disorder are sporadic but there are cases of multiplex families who display autosomal recessive and autosomal dominant inheritance. Autosomal recessive individuals usually have acute molluscum contagiosm. Also, it is possible for neurological complications to develop because of other viral infections. The patients also lack dental or skeletal involvement and they do not develop cysts of the lungs. A few authorities have the belief that 2 separate syndromes are in existence, not just one. [read more]
The Johnson Munson syndrome or aphalangy, urogenital-intestinal and hemivertibrae dysgenesis is a very rare syndrome which has been observed in only three siblings. It is associated with aplisia of the phalanges of the feet and hands or hypoplasia; hermivertibrea, and several other intestinal and/or urogenital defects. Intrafamiliar variability is highly important as one of the three siblings (a sister) had fatal defects (pulmonary hypoplasia and Potter syndrome). The other brother who was also sick with the syndrome was in great health and he had a normal development of his psychomotor skills at the sixth month of age. [read more]
Joubert syndrome is a genetic disorder that is very rare. This disorder affects the brain areas which control coordination and balance. It was first identified by a pediatric neurologist named Marie Joubert from Montreal in Canada. The physician was then working with McGill Neurological Institute. [read more]
A part of every human's instinct of survival includes sudden reaction to unexpected stimulus. Often, the reaction is a startle which is a reflexive movement to get away from the stimulus. This reaction also causes change of blood pressure and respiration. Among normal people, this could only last for seconds but for those who suffer from Jumping Frenchmen of Maine disorder, the result could be very interesting (and in some cases, shocking). Jumping Frenchmen of Maine is a very rare disease which was originally described in 1878 by a certain George Miller Beard. [read more]
Kabuki syndrome also called as Kabuki makeup syndrome (KMS) or Niikawa Kuroki syndrome in the past, is a rare pediatric inborn disease. This congenital disorder has no known cause and comes with numerous inborn anomalies and retardation of mental development. It was discovered by Niikawa and Kuroki who were Japanese scientists. It was named Kabuki syndrome because the individuals who are affected by this illness look like Kabuki dolls or Kabuki performers who are wearing white makeup. The name term Niikawa-Kuroki syndrome, obviously, relates to the two scientists who made the discovery of the illness. [read more]
Kaolin is processed by, first, removing it from seams that are underground in an area of mining. The process involves slicing, drying, and pulverizing to make a finished product. A study was done to know the concentration of kaolin dust in different areas of work. The study was also set up to be able to assess the occurrence of pulmonary and radiographic function defects among workers. There were 65 subjects from the Georgia kaolin mines. It was noted that the respirable concentrations of kaolin dust were at their peak in the areas where the product was being processed as compared to the mine or areas of maintenance. The study ran through 1977 until 1981. The kaolin dust level that is was respirable in the processing are in the year 1981 was at 1.74 milligrams/m3 and 0.14 milligrams/m3 in the area of mining. 5 of the workers from the processing area had evidences, confirmed by radiography, of kaolin pneumoconiosis. The FVC or the forced vital capacity and FEV1 mean values for the entire group were observed to be in the normal range. When the spirometric quantities were stated as a percentage or portion of the values that were predicted, the FEV1 and FVC were noticeably lower among workers with kaolinosis than among workers from within the processing area. Both the FEV1 and the FVC have declined considerably as the years progress and the worker remains working in the processing area. The FEV1/FVC%, on the other hand, was not changed significantly by either the kaolinosis presence or by the increase in work years. This indicates that the defect was confined and thus very likely to be a result of inhalation of the kaolin dust as compared to smoking. [read more]
Moritz Kaposi, a Hungarian dermatologist was the first one to describe Kaposi's sarcoma, as a tumor caused by Human Herpes Virus 8 (HHV8). HHV8 is the eight human herpes virus. Kaposi's sarcoma is the cancer that usually comes about in many AIDS suffering patients. [read more]
Kawasaki Syndrome is a medical condition with unknown cause that results in inflammation of the walls of the blood vessels (vasculitis) and primarily affects young children. [read more]
Kennedy disease is a rare hereditary disease affecting the nerves and muscles (neuromuscular). Females can be carriers of the disease but only males present the symptoms of the disease. Kennedy Disease is also known as X-linked spinal and bulbar muscular atrophy. [read more]
Keratoacanthoma is a fairly common, epithelial tumor. Formerly, it was regarded as variant of Squamous Cell Carcinoma; a form of malignant cancer that occur in many different organs of the body including the skin, lips, esophagus, and mouth among other else. It is a disease common in the elderly. Keratoacanthoma usually disappears by itself within a period of time; it is non-contagious. [read more]
Kidney cancer is also known as renal cell carcinoma arising from the renal tubule. It is the most common kind of kidney cancer in adults. It is notoriously resistant to radiation therapy and chemotherapy, although some cases respond to immunotheraphy. [read more]
Acute kidney failure is the sudden loss of the kidneys' ability to perform their main function ? eliminate excess fluid and electrolytes as well as waste material from the blood. When the kidneys lose their filtering ability, dangerous levels of fluid, electrolytes and waste accumulate in the body. [read more]
Kikuchi Disease is a rare lymph node disorder causing large and inflamed lymph nodes. It is not cancerous. It is also known as histiocytic necrotizing lymphadenitis; which was first identified in 1972 by Dr. M.Kikuchi in Japan. [read more]
Klinefelter's syndrome is a rare chromosomal genetic syndrome characterized by having XXY chromosomes instead of XX or XY chromosomes. Sufferers of this syndrome are usually males because of the presence of Y chromosomes. This syndrome is considered as the second most common extra chromosome condition. Usually called with other names as XXY or XXY syndrome, this condition was first described in 1942 by Dr. Edward Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, Massachusetts. [read more]
Klippel-Feil Syndrome is a rare medical condition described as the congenital fusion of any two (2) of the seven (7) vertebrae located in the neck. This rare disorder was first accounted by Maurice Klippel and Andre Feil from France in the year 1912. [read more]
Kohler Disease is a rare bone disorder taking place on the foot usually occurring in children aging from six to nine years old. A German radiologist named Alban Kohler was the first to describe this disease in 1908. Kohler disease usually affects boys, but girls can also develop this kind of disease. [read more]
Korsakoff's syndrome is a degenerative disease of the brain, which is caused by deficit amounts of thiamine (Vitamin B1) present in the brain. The syndrome's name was derived from the name of the neuropsychiatrist who made this theory popular, Sergei Korsakoff. This disease is also known as Korsakoff's psychosis and amnesic confabulatory syndrome. [read more]
Kostmann Syndrome is a rare disease usually distinguished and identified soon after birth. This is an uncommon inherited type of Severe Chronic Neutropenia; which is a blood disorder marked by abnormally low number of neutrophil granulocytes. Neutrophils (a type of white blood cells) are essential for fighting infection. Kostmann syndrome was formerly presented and defined as an autosomal-recessive disorder, marked by early phase maturation arrest of myelopoiesis. Kostmann Syndrome was named after Dr. Kostmann, a Swedish doctor who first discovered the disease in 1956. [read more]
Kuru is a brain disease that became an endemic in Papua New Guinea. It is also called ?laughing sickness? due to the hallucinations the patients suffer due to the disease. [read more]
Kuskokwim disease is a rare syndrome where abnormal muscle attachment causes abnormalities such as muscle wasting or excessive growth and contractures. It is a type of Arthrogryposis Multiplex Congenita, a rare congenital disorder that causes multiple joint contractures and is marked by muscle weakness and fibrosis. [read more]
Kwashiorkor is the type of malnutrition that is commonly believed to be associated with inadequate protein intake. The common sufferers of Kwashiorkor are children with ages from one to four; however, older children and adults can also be inflicted with this condition. This usually occurs when a weaned children receives a diet replacement that high on carbohydrates and starch but low in protein. [read more]
Kyasanur forest disease is a viral hemorrhagic fever that is usually transmitted by ticks (tick-borne). Like all tick-borne diseases, Kyasanur forest disease is caused by infection by a virus. In this case, the virus belongs to the flaviviridae family of virus. This virus mostly spread through arthropod vectors. This disease is prevalent in South Asia. This disease is also known as Monkey Disease and was reported from the Kyasanur Forest of Karnataka, India. [read more]
Langerhans cell histiocytosis is a medical condition characterized with the increased production of Langerhans cell. Langerhans cell are abnormal cells originating from the bone marrow and have the capability to drift from the skin to the lymph nodes. Langerhans cell histiocytosis was formerly referred to as histiocytosis X. The Histiocyte society renamed the disease in 1985. [read more]
Larsen syndrome is a rare autosomal dominant genetic disease. It is a rare connective tissue disorder. This medical condition is very rare with the incidence occurring only 1 in every 100,000 people. Larsen syndrome was named after L.J. Larsen, who was responsible for writing about the condition in an article for the first time during the year 1952. [read more]
Lassa fever is an acute viral hemorrhagic fever named after the town in Lassa, Nigeria. The disease was first described in 1969 and is widespread in West African nations. [read more]
Leber's congenital amaurosis is another name for Leber's hereditary optic neuropathy (LHON). it is an eye disease that consists of swelling and wastage of the retinal ganglion cells. This may result to permanent loss of eye vision. [read more]
Legionellosis is a contagious disease that causes respiratory illnesses such as pneumonia and pontiac fever. It was first described in 1976 when an outbreak occurred in a convention in Philadelphia, U.S.A. An average of 8,000 to 18,000 people in the Unites States acquire the disease each year. [read more]
Leishmaniasis is a kind of disease brought about by protozoan parasites under the genus Leishmania. It is formerly known as Orient Boils, Baghdad Boil, Dum-Dum fever or Leichmaniosis. [read more]
Lemierre's syndrome is a rare bacterial disease that usually targets young adults. It brings about an inflammation of the internal jugular vein. A blood clot also develops in the said area during the onset of the disease. It was first described by Andre Lemierre in 1936, and the disease has produced about 160 cases for the past 100 years. [read more]
Leprosy is a chronic contagious skin disease that attack the peripheral nerves and mucosa of the respiratory tract. It also develops skin lesions in various parts of the body. When left untreated, the disease may cause irreverisible damages to the eyes, nerves and skin. [read more]
Leucinosis, or sometimes known as the Maple syrup urine disease (MSUD), is an autosomal recessive metabolic disorder that affects branched-chain amino acids. [read more]
A lipoma is a slow-growing, fatty tumor situated between the skin and the underlying muscle layer. [read more]
Loeys-Dietz syndrome is an autosomal dominant disorder similar to the Marfan syndrome. It was first discovered by Harry Dietz and Bart Loeys. [read more]
Low blood sugar, or hypoglycemia, is a condition caused by extremely low sugar levels in the blood. This is a common condition for patients with diabetes. [read more]
Lygophobia is an irrational fear of the dark, common among children but also observed in adults in varying degrees. Lygophobia is from the word ?lyge?, meaning twilight, and ?phobia?, meaning fear. Other terms synonymous to this condition are nyctophobia (meaning fear of night) and scotophobia (meaning fear of darkness). [read more]
Lymphatic filariasis is a parasitic and infectious tropical disease. It is endemic in tropical areas of the world, where it was said that up to 54% of the population have microfilariae in their blood (Aupali T, Ismid IS, Wibowo H, et al. (2006). "Estimation of the prevalence of lymphatic filariasis by a pool screen PCR assay using blood spots collected on filter paper". Tran R Soc Trop Med Hyg 100 (8): 753?9). [read more]
Lyssavirus is a rabies-like virus of which bats are natural reservoirs. When transmitted to humans, lyssavirus can cause a number of potentially life-threatening conditions. [read more]
By definition, this disease was named named after the French physician Prosper M?ni?re, who was the first to make a report in an 1861 article that vertigo was caused by inner ear. Today, M?ni?re's disease is recognized as a disorder of the inner ear that can affect both hearing and balance [read more]
Malouf syndrome is a very rare syndrome primarily characterized by a heart disease in addition to abnormal ovaries. This congenital disorder is also known as congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome. Malouf syndrome is derived from the name of Jean Malouf, who is a famous sideshow performer during the 19th century; she was born in Montreal. [read more]
Malta fever, also known as undulant fever or brucellosis, is a contagious disease that affects the central nervous system and can lead to painful joints as well as miscarriage. [read more]
Marburg fever is a rare and severe type of hemorrhagic fever affecting both human and non-human primates. It is a serious virus related to Ebola. The disease is transmitted through bodily fluids like saliva, blood, excrements (waste products of metabolism), and vomit. [read more]
Maternal death pertains to the death of a woman during or shortly after pregnancy that arises from factors or circumstances related to pregnancy or childbirth. It is also referred to as obstetrical death or maternal mortality. [read more]
By definition MacArdle's disease is also known as Glycogen storage disease type V and is a kind of metabolic disorder that is characterized by the body's inability to produce enough of the muscle isoform called phosphorylase. Relatively recent, it was first identified in 1951 by the English physician whose name it now bears. [read more]
McCune-Albright syndrome is also known as polyostotic fibrous dysplasia. It is a genetic condition with disorder of the bones, pigmentation of skin, and premature puberty with hormonal problems. [read more]
2Measles, which is also known as, Rubeola is a viral disease that has had a long history with medical accounts of it going as far back as 600 B.C. It was first clinically described in an Arabic book which significantly distinguished it from small pox. Measles is one of the great childhood killers, claiming the lives of more then 200 million children and adults in the last 150 years. The development of a vaccine has made the effectively checked the disease. [read more]
Its peculiar name is derived from the Dalmatian island of Melda because its founder was said to have been afflicted with the disease. Extremely rare, meleda disease is an inherited disorder of the skin characterized by thick, dry patches of skin which appear on the soles of both hands and feet (palmoplantar hyperkeratosis). [read more]
M?n?trier disease which is also known as hyperplastic hypersecretory gastropathy, is named after the French physician Pierre Eug?ne M?n?trier and is a disorder in which the gastric mucosal folds or rugae become enlarged. [read more]
Merasmus is a disease characterized by progressive emaciation and general wasting as a consequence of a weakened disposition rather than any specific identifiable cause. It is generally considered to be a type of malnutrition. Merasmus may also be spelled Marasamus, Mirasmus or Marasumus. Sometimes, it is also referred to as Miasma. [read more]
Mercury poisoning is also known as mercurialism, hydrargyria, Hunter-Russell syndrome, or acrodynia when the victims are children. [read more]
By definition, mesothelioma is a form of cancer that is almost always likely caused by a prior exposure to asbestos; an exposure which causes malignant cells to develop in the mesothelium which is the protective lining that covers most of the body's internal organs. The most common site for these cancers to develop is the pleura, which is the outer lining of the lungs and of the chest cavity. Other places it could occur include the peritoneum or the lining of the abdominal cavity and even in the pericardium which is a a sac that surrounds the heart. [read more]
Metastatic cancer is a term used in reference to cancer that has spread from its origin to other organs or parts of the body. Only malignant or cancerous cells have the capacity to metastasize. [read more]
A valvular heart disease, Mitral valve prolapse is characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. MVP, in its nonclassis form, carries a low risk of complications. Severe cases of MVP though may include complications such as infective endocarditis, regurgitation and in rare circumstances, cardiac arrest that usually results to sudden death. The term for the disease was coined by J. Michael Criley in 1966. It gained acceptance over JB Barlow's ?billowing? of the mitral valve description. MVP has different subtypes namely classic, nonclassic, symmetric, asymmetric, flail or non-flail. The subtypes are based on the leaflet thickness, convacity and type of connection to the mitral annulus. [read more]
A disease that can develop during extended time living at altitude, Monge's disease, or Chronic mountain sickness was first described in 1925 by Carlos Monge. Its acute form is called acute mountain sickness, which occurs shortly after ascent to high altitude. Medicine describes high altitude as over 2500 meters though most cases of CMS occur at over 3000 meters. [read more]
Monomelic amyotrophy (or MMA) pertains to a rare disorder of the motor neurons, which are a group of nerves responsible for controlling voluntary muscles. [read more]
MND or motor neurone diseases are a group of progressive neurological disorders that destroy the cells that control voluntary muscle activity such as speaking, walking, breathing, and swallowing. Those cells are called motor neurons. The disease has several forms including amyotrophic lateral sclerosis or ALS, primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), and bulbar. Spinal muscular atrophy is sometimes considered a form of MND. [read more]
Known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, Charcot-Marie-Tooth disease (CMT) is characterized by loss of muscle tissue and touch sensation, primarily in the feet and legs but also in the hands and arms in the advanced stages of disease. The disease is presently incurable and is one of the most common inherited neurological disorders, with 37 in 100,000 affected. [read more]
Mount-Reback syndrome or Mount' syndrome was named after the doctors who classified it namely Lester Adrian Mount and S. Reback. The disease is a form of Huntington's Chorea, a rare hereditary disease affecting various muscular and nervous systems in the body. Mount's syndrome passes to roughly 50% of the offspring and shares many of the same symptoms of Chorea. Chorea however is more severe and the shared symptoms may be caused by different factors. Persons with the disease experience attacks lasting for a few minutes to several hours when they are awake. Said attacks are most severe at an early or young ages and the symptom tend to lessen as the person grows. The reason for this is unknown. [read more]
Mucocutaneous Lymph Node Syndrome otherwise known as the Kawasaki disease is a medical condition where there is an inflammation of the walls of the arteries throughout the body which may include the coronary arteries affecting the lymph nodes, skin and mucous membrane inside the throa, nose and mouth of the person. [read more]
Sly syndrome or Mucopolysaccharidosis type VII is an autosomal recessive lyososomal storage disease characterized by a deficiency of the enzyme ?-glucuronidase, a lyososomal enzyme. The deficiency in the said enzyme results to the accumulation of certain comples carbohydrates in many tissues and organs of the body. The disease was named after its discoverer William Sly. [read more]
Previously known as multiple organ failure (MOF), multiple organ dysfunction (MODS) is altered organ function in an acutely ill patient requiring medical intervention to achieve homeostasis. Using the term MOF should be avoided since the term was coined based upon physiologic parameters to determine whether or not a particular organ was failing. [read more]
Multiple sclerosis is a chronic, inflammatory, and demyelinating disease affecting the central nervous system. It also known as disseminated sclerosis or encephalomyelitis, which onset, usually occurs in young adults and more common among women. The disease was first described in 1868 by Jean-Martin Charcot. [read more]
Mumps or epidemic parotitis is a human viral disease. "Mumps" originally meant "to mumble", and came to be useful to the disease due to the side effects it causes. Mumps was a common childhood disease worldwide prior to the development of vaccination and the introduction of a vaccine. It remains to be a significant health threat in third world countries. [read more]
Muscle Strain or commonly known as ?pulled? muscles is a condition whereby there is a stretching or tearing of the muscles in contrast with the muscle sprain which is the stretching or tearing of the ligaments. [read more]
Referring to a group of genetic and hereditary muscle disease that cause progressive muscle weakness, muscular dystrophies are characterized by progressive skeletal muscle weakness defects in muscle proteins, and the death of muscle cells and tissue. There are nine diseases that are classified as muscular dystrophies namely Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss. [read more]
Mycosis Fungoides is also referred to as Alibert-Bazin Syndrome or granuloma fungoides. It is the most common presentation of cutaneous T-cell lymphoma wherein the skin is the primary part of the body that is affected. As the disease progresses, it can also affect the internal organs and the blood. This condition was initially described in 1806 by a French dermatologist named, Jean-Louis-Marc Alibert. Mycosis fungoides caused several misconceptions because it stands for a fungal disease characterized by a mushroom-like presentation. It was named as such by Alibert based upon his description of the disease's severe case which appears similarly to a mushroom. However, it is far from a fungal disease or infection. It is actually a type of non-Hodgkin's lymphoma. [read more]
Mycosis Fungoides Lymphoma is classified as the most common presentation of cutaneous T-cell lymphoma. In general, the skin is the primary part of the body that is affected. However, it can advance internally as the disease progresses. Initially described in 1806 by a French dermatologist named, Jean-Louis-Marc Alibert, mycosis fungoides lymphoma caused some misconceptions. It stands for a fungal disease characterized by a mushroom-like presentation. It was named as such by Alibert based upon his description of the disease's severe case which appears similarly to a mushroom. However, it is far from a fungal disease or infection. It is actually a type of non-Hodgkin's lymphoma. [read more]
Myelodysplastic Syndromes or MDS was previously known as Preleukemia. It is characterized by a diverse group of hematological conditions. This hematological disease is associated with ineffective blood cell production. It is presented with varying chances of transforming into acute myelogenous leukemia. In majority of cases, this condition is also associated with severe anemia that requires regular blood transfusion. [read more]
Myelofibrosis with myeloid metaplasia is also referred to as Agnogenic Myeloid Metaplasia, Chronic Idiopathic Myelofibrosis, and Primary Myelofibrosis. This condition was initially described in 1879. At present, it is classified as myeloproliferative disease resulting from the growth and proliferation of an abnormal bone marrow stem cell. This is due to the bone marrow being replaced with fibrous connective tissue. Assmann's Disease or Heuck-Assmann Disease is an eponym for this condition. Mean survival for patients with this condition is 5 years. Usual causes of mortality are bleeding, infection, portal hypertension, organ failure and resulting leukemia. [read more]
Myeloperoxidase deficiency is considered a common genetic disorder which is characterized by a deficiency in the quantity of enzyme myeloperoxidase or its lack of functionality in the human body. This enzyme can usually be found in some types of phagocytic immune cells, the polymorphonuclear leukocytes in particular. Myeloperoxidase deficiency typically has no distinct signs of immunodeficiency among majority of affected patients. This is despite its immune deficiency presentation which is especially observed in candida albicans infections. Basically, this condition shows no specific manifestations of an immunodeficiency. The absence of major symptoms for Myeloperoxidase deficiency suggest that the role of the enzyme myeloperoxidase in immune responses might be similar with that of other mechanisms of intracellular killing of bacteria that had been phagocytosed. [read more]
Myotubular Myopathy (MTM) is the most common form of a group of congenital myopathies called centronuclear myopathies (CNM). CNM is characterized by the abnormal positioning of the nuclei in the skeletal muscle cells. Normally, the nuclei are located at the periphery. But in CNM patients, they are located centrally, i.e. in the center of the cell. The term myotubular myopathy was first coined by a New York neurologist named Dr. Spiro. Dr. The presence of nuclei in the center of the cells reminded Dr. Spiro of the ?myotubular? stage during embryonic development, thus the term. He suspected that the myopathy may be caused by growth detention during the myotubular phase. [read more]
Nappy rash is a common ailment experienced by babies. It is characterized by rashes and irritation on the bowel caused by bacteria and fungi due to improper hygiene procedures. [read more]
Narcolepsy is a neurological condition wherein patients exhibit excessive daytime sleepiness (EDS). The word itself is derived from the French word narcolepsie. It was Jean-Baptiste-?douard G?lineau, a 19th century French physician, who first coined the term by combining the Greek words ?narke? (meaning numbness) and lepsis (meaning attack or seizure). [read more]
Nephritis pertains to kidney inflammation, often as a result of toxins, infections, and auto-immune diseases. The term nephritis is derived from the Greek words ?nephro?, which means ?of the kidney?, and ?itis?, meaning ?inflammation?. [read more]
Nephropathy pertains to disease or damage of the kidney. Previously, nephropathy was known by its older term, nephrosis. [read more]
Neurasthenia is a medical condition also known as Chronic Fatigue Syndrome. It is characterized by a combination of fatigue, headache, anxiety, headache, neuralgia or painful disorders of the nerve, depression or any turndown in the mood and impotence (the inability to develop erection of the penis). The term ?Neurasthenia? was first used in 1869 by George Miller Beard. [read more]
Neuritis is a term used to describe a general inflammation of the peripheral nervous system, affecting either a single nerve or a series of nerves in various parts of the body. [read more]
Neuroacanthocytosis is also known as Levine-Critchley syndrome or chorea-acanthocytosis). It is a rare movement disorder. This disorder has adult and childhood varieties. Neuroacanthocytosis is typically an inherited autosomal recessive disorder. Occurrence is more prevalent in males than in females. [read more]
Neurofibrillary tangles are pathological protein aggregates found within the neurons of patients identified as having Alzheimer's Disease. Hyperphosphorylation of a protein associated with a microtubule is the one responsible for the formation of these tangles; causing it to gather together and accumulate in an insoluble form. Along with Alzheimer's disease, Creutzfeldt-Jakob and Supranuclear Palsy are some of the disease that is proven to be having the presence of neurofibrillary tangles. It was Alois Alzheimer, who described neurofibrillary tangles in one of his patients who have Alzheimer's disease. These abnormal structures are found in various parts of the brain and known to be as one of the hallmarks of Alzheimer's Disease. [read more]
Nijmegen Breakage Syndrome or NBS is also referred to as Berlin Breakage Syndrome and Seemanova Syndrome. This condition is a rare form of disease syndrome. It is mainly characterized by chromosomal instability. Probable reason could be as a result of an abnormality or clinical defect in the Double Holliday junction DNA repair mechanism. Nijmegen Breakage Syndrome is usually manifested by several distinctive characteristics. Major clinical presentation includes microcephaly, distinct appearance and expression of the face, shortness in stature, immunodeficiency and sensitivity to radiation. Patients who are diagnosed with NBS are found to have an increased risk of having lymphoid malignancy. The name, Nijmegen Breakage Syndrome, was derived from the Dutch city, Nijmegen which was where the first description of this disease had been established. Majority of the people afflicted with NBS have origins from the West Slavic. A significant percentage live in Poland. [read more]
Noonan Syndrome or NS is classified as a relatively common genetic disease. It is a congenital condition affecting both the male and the female. It was formerly considered as the male counterpart of Turner's syndrome. Despite this comparison, the genetic causes of Noonan syndrome are distinct from Turner syndrome. The clinical presentation of Noonan syndrome is primarily congenital heart malformation, problems with learning, indented chest, short stature, impairment of blood clotting and characteristically configured features of the face. Noonan syndrome acquired its name from Dr. Jacqueline Noonan. Approximately 1 in every 1,000 and 1 in every 2,500 children all over the world are born with this condition. In fact, it is considered as one of the most common genetic diseases with close relation to congenital heart disease with the same occurrence with that of Down syndrome. [read more]
Nystagmus is involuntary eye movement that can be part of either the vestibulo-ocular reflex (VOR) or a pathological process. It is characterized by alternating smooth pursuit in one direction and saccadic movement in other direction. [read more]
Obsessive-compulsive disorder is a psychiatric anxiety disorder. Individuals with this disorder have thoughts that are obsessive, distressing, intrusive, related with compulsions to neutralize their obsessions. [read more]
An opportunistic infection is caused by pathogens in an unhealthy immune system, which presents the "opportunity" for the pathogen to infect. [read more]
Opththalmoplegia pertains an eye abnormality characterized by the paralysis of eye muscles. It may also be spelled alternatively as opththalmoplegia. [read more]
Orf is described as a viral disease that commonly infects sheep and goats. It can be easily acquired by humans through direct contact of infected animals or contaminated fomites. It was also reported that reindeers have caused similar cuts to humans. [read more]
Osteogenic sarcoma is also called asosteosarcoma and is identified as one of the most common types of cancer of the bones found in children. This medical condition is mostly found in lone bones such as the legs, pelvis and arm bones. This cancer has also been found to be more prevalent among male patients than females. The cancer cells can rapidly spread to other areas of the body and like any other cancer, it is fatal without any medical intervention. [read more]
Otitis media is inflammation of the middle ear, or middle ear infection (the word otitis is Latin and it means ?inflammation of the ear?, and media means middle. [read more]
Pallister-Killian syndrome is very rare and sporadic cytogenetic abnormality. This medical condition was first described in the three adults by Pallister way back in 1977. The information about this disease is still largely unknown other than the medical belief that it is causes by an autosomal tetrasomy in humans. [read more]
Paracoccidioidomycosis is characterized as an infection primarily caused by the fungus Paracoccidioides brasiliensis. Paracoccidioidomycosis is a type of fungal infection that typically involves the mouth, skin, lymph nodes and throat, although symptoms sometimes appear in the patient's liver, lungs or spleen. [read more]
Pediatric T-cell leukemia is a rare type of an acute lymphoblastic leukemia occuring to children. It is a cancer involving the lymphoblasts which forms lymphocyte cells. [read more]
Pellagra is a vitamin deficiency disease caused by dietary lack of niacin (B3) and protein, especially proteins containing the essential amino acid tryptophan. Because tryptophan could be converted into niacin, foods with tryptophan but without niacin, such as milk, prevent pellagra. But, if dietary tryptophan is diverted into protein production, niacin deficiency may still result. [read more]
Pelvic lipomatosis is a rare disease which often occurs to older black men who are obese and with hypertension. In pelvic lipomatosis, dense deposits of normal fat in abnormal amount may be seen in spaces in the pelvic area. Pelvic lipomatosis is often benign overgrowth of some adipose tissue with small fibrotic components as well as inflammatory. Pelvic lipomatosis is commonly found incidentally when doing a routine check up. [read more]
Pemphigus is a medical condition used to describe a vesiculobullous disease affecting the skin and the mucous membranes which then causes vesicles or blisters, raw sores, and bullae. An autoimmune disease which is caused when the body's immune system mistook its own tissues to be a foreign tissue and destroys it. Antibodies attacking his very own cells are autoantibodies. The target of the autoantibodies in the pemphigus condition is the desmoglein which is a form of protein. Desmoglein is the "glue" attaching some epidermal cells adjacent to each other by the desmosomes. [read more]
Periarteritis nodosa is also popularly called Polyarteritis nodosa. This is condition of a vasculitis of the medium-sized arteries. The arteries become swollen and eventually damaged due to attacks by the rogue immune cells. Another term for this condition is Kussmaul disease or the broader term Kussmaul-Meier disease. [read more]
Periodontitis, is a collective name of inflammatory diseases that affects the tissues which is surrounding and supporting the teeth. Periodontitis is the state involving a progressive loss of bone which surrounds the teeth and could lead to loosening ore eventually loosing the teeth if it remains untreated. Periodontitis is very common disorder. [read more]
Perniosis is also called Chilblains or blain, when it occurs on the feet. This is a medical condition which is often mistaken as frostbite or trench foot. Perniosis are ulcers on the extremities like the toes and fingers that occur especially when a predisposed individual was exposed to cold atmosphere or humidity. [read more]
Peutz-Jeghers is also popularly known as Hereditary Intestinal Polyposis Syndrome. This is an autosomal disease involving the dominant genes. It is occurs as a development of some hamartomatous polyps in our gastrointestinal tract. [read more]
Pityriasis rubra pilaris, also referred to as Devergie's disease, is a skin disorder that has a sudden onset. [read more]
Pneumocystis pneumonia is a type of pneumonia caused by Pneumocystis jirovecii, which is a yeast-like fungus. [read more]
Pneumocystis pneumonia is a type of pneumonia caused by Pneumocystis jirovecii, which is a yeast-like fungus. [read more]
Poland syndrome is a physical condition in which an individual has one-sided congenital malformations of the body characterized by underdeveloped chest muscles and webbed fingers. The abnormalities usually occur on the same side of the body. [read more]
Poliomyelitis is a very contagious disease caused by poliovirus. The disease is usually referred to as polio or infantile paralysis. [read more]
Polyostotic fibrous dysplasia is also known as McCune-Albright syndrome. It is a genetic condition with disorder of the bones, pigmentation of skin, and premature puberty with hormonal problems. [read more]
Popliteal pterygium syndrome is a condition that affects the face, limbs, and genitalia. It was named based on the popliteal pterygium, which is a weblike membrane behind the knee. The condition is also referred to as the popliteal web syndrome or facio-genito-popliteal syndrome. [read more]
Post-polio syndrome is a condition wherein a person who has had polio, experiences certain late effects of the disease, many years after the illness. [read more]
Postpartum Hemorrage is excessive bleeding following the birth of a baby, particularly more common in cesarean births. It usually happens right after delivery, but it can also happen later. [read more]
Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia, food preoccupation, learning difficulties and having a small stature. It is a very rare disorder that happens in only in 1 in 12,000 or 15,000 live births. It was discovered by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland in 1956. [read more]
Premenstrual syndrome was originally known as PMT or Premenstrual Tension. It is a collection of symptoms such as psychological, physical and emotional which is related to woman's menstrual cycle. For other women PMS can experience severe pain that can be disabling. [read more]
Primary alveolar hypoventilation or primary alveolar hypoventilation syndrome is a respiratory disorder marked by difficulty in breathing and may tend to get worse when sleeping due to impairment in the transfer of oxygen from the lungs to the blood. The condition results to short periods of breathing cessation during nightly episodes of apnea and often occurs in people suffering from obesity hypoventilation syndrome. [read more]
Progressive spinal muscular atrophy is a disease marked by progressive degeneration of motor neurons located in the spinal cord, which causes weakness and wasting of the voluntary muscles. [read more]
Proximal myotonic myopathy is a inherited muscular disorder that results to muscle weakness, frequent muscle contractions, cataracts, infertility, balding, and cardiac problems. The disorder was only discovered in 2001. It is also known as myotonic dystrophy type 2. [read more]
Pruritus is an itchy skin condition that may be the result of rashes or other itchy skin condition. [read more]
Pruritis ani is an itching around the anus. It is also called anal itching. [read more]
Psittacosis is a contagious disease caused by Chlamydia psittaci, which can be transmitted from infected birds. It is also called parrot disease, chlamydiosis, or ornithosis. [read more]
Pubic crabs, also known as crab lice or pubic lice, are parasitic insects that thrive on a person's pubic area. The lice cause irritation and itchiness due to bites and scratches, and the wounds due to scratching may lead to infections or typhus. [read more]
Pubic lice, also known as crabs, are small wingless insects that thrive in the pubic region of one's body. They may also live in the armpits, eyelashes, clothing and bedding. Like other parasites, pubic lice feed on sucking blood and lay eggs on the base of the hair follicles. [read more]
Q fever is an infectious disease spread by infected cattle and other animals. It is caused by specie of bacteria named Coxiella burnetti. It first became known in the United States in 1999. When cultured, the bacteria can be a potential form of biological warfare, just like anthrax. [read more]
Rabies is a viral zoonotic neuro-invasive infection that often causes an inflammation of the brain (a condition known as acute encephalitis). Rabies is from the Latin word ?rabies? meaning ?rage, fury, or madness?. Rabies can be fatal when affecting non-vaccinated humans, especially after neurological symptoms have occurred. However, the effects can be curbed if the patient is promptly vaccinated shortly after exposure to the virus. When the disease becomes symptomatic, however, it becomes invariably fatal. [read more]
Rabson-Mendenhall syndrome is characterized by severe resistance to insulin, abnormal growth and development, acanthosis nigricans, and, in some cases, a hypertrophic pineal gland. In this rare insulin receptor disorder, the patient's body suffers from a disability to use insulin which is needed to control blood sugar levels. [read more]
Also known as Chronic Focal Encephalitis (CFE), Rasmussen's encephalitis is a rare, progressive neurological disorder affecting a single cerebral hemisphere and usually occurring in children under the age of ten. [read more]
Rectal itching is an itching around the anus. It is also called pruritis ani or anal itching. [read more]
Renal tubular acidosis (RTA) is characterized by the accumulation of acid in the body as a consequence of the failure of the kidney to adequately acidify urine. The term renal tubular acidosis is attributed mostly to defective urinary acidification in otherwise well-functioning kidneys. There are different forms of renal tubular acidosis, each of which has different causes and symptoms. [read more]
Retinoblastoma pertains to cancer of the retina that affects children. If untreated, retinoblastoma is almost invariably fatal. [read more]
Rett syndrome is a neurodevelopmental disorder mostly affecting females. This disease is categorized as a pervasive development disorder by the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders). [read more]
Rhabdoid tumor pertains to a very rare and extremely aggressive tumor commonly occurring in children ages 2 to 13 years. Initially, rhabdoid tumor was believed to be a variant of Wilms' tumor. However, recent studies have shown that rhabdoid tumor is an entirely separate entity. The location of this highly malignant tumor may be intraventicular, supratentorial, or infratentorial. [read more]
Embryonal rhabdomyosarcoma, also alternatively called sarcoma botryoides, is a rare form of vaginal cancer affecting female infants and children under 8 years old. [read more]
Roseola infantum is a benign disease affecting children, commonly under two years old, characterized by a temporary rash that occurs following a fever that lasts for three days. Roseola infantum is more commonly known as exanthem subitum, which literally means ?sudden rash?. Other names for the disease are sixth disease (because it is the sixth condition to cause rashes in children), baby measles (a more confusing name), and three day fever. The origin of roseola infantum was unknown for a long time. Recently, however, research findings have revealed that the disease is caused by two human herpesviruses, namely HHV-7 (Roseolovirus) and HHV-6 (Human Herpesvirus Six). [read more]
The Ross river virus is referred to as the arbovirus of the genus Alphavirus. Infections in humans are caused by an epidemic polyarthritis which is commonly known as Ross River Fever. In the years 1995-2004, it infected an average of about 4,000 people annually in Australia. The virus is widespread to the parts of Australia and Papua New Guinea and was later observed in an outburst in the South Pacific in the years 1979-1980. The infection happens most on adults and rarely affects children. [read more]
Sabinas brittle hair syndrome is a hereditary disease, autosomal recessive in pattern, affecting the integumentary system (the organ system that primarily protects the body from damage - including skin, nails, hair, sweat glands, etc.). Also alternatively known as Sabinas syndrome or brittle hair-mental deficit syndrome, this disease is named after a small community in northern Mexico (Sabinas) where it was first observed. Classic presentations of Sabinas brittle hair syndrome include brittle hair, nail dysplasia, and mild mental retardation. In addition, affected patients show increased copper/zinc ratio, reduced hair cystine levels, and presence of arginosuccinic acid in the urine and blood. [read more]
Salmonella food poisoning is a type of food poisoning caused by Salmonella bacterium. Its effect is the inflammation of the lining of the stomach and intestines called gastroenteritis. [read more]
Scabies is a contagious ectoparasite infection of the skin characterized by intense itching, superficial burrows, and secondary infections. The term comes from the Latin word ?scabere? which literally means ?scratch?. [read more]
Scabies is an infectious skin disease that is caused by small itch mites that thrive on the skin's epidermis. The waste products of these mites often cause irritation. This is a common parasitic disease among children especially with those living in poor sanitary environments. [read more]
SCAD deficiency (short-chain acyl-coenzyme A dehydrogenase deficiency) pertains to a defect in the oxidation of fatty acids in the body. This disorder affects enzymes that are necessary in breaking down a group of fats known as short-chain fatty acids. [read more]
Scleroderma is a rare, progressive connective tissue disorder characterized by thickening and hardening of the skin and connective tissue. Some forms of scleroderma can involve even internal organs. There are two types of scleroderma: localized scleroderma and the systemic type, known as systemic sclerosis. The localized type can be disabling but not fatal. However, the systemic type can be fatal due to complications brought about by some accompanying diseases. [read more]
Scrapie is a fatal and degenerative disease involving the nervous systems of goats and sheep. It is a contagious form of spongiform encephalopathy associated with chronic wasting disease of deer and mad cow disease. This contagious disorder can't infect humans. Scrapie is somehow similar to Creutzfeldt-Jakob disease and kuru in humans. This communicable disease predominantly affecting goats and sheep have a very long incubation period. [read more]
This disorder is also known as winter depression wherein sufferers feel normal mental health all through most of the year but feels depressed during the winter. People experiencing this disorder, tend to sleep too much, have less energy, and craves for sweets and starchy foods. There are three types of this disorder which are Fall and Winter SAD, Spring and Summer SAD and Reverse SAD. [read more]
Severe Acute Respiratory Syndrome (SARS) is an infectious respiratory condition in humans. It was reported to have an initial outbreak that has turned out to be pandemic during November 2002 to July 2003. But it was only on February 2003 when SARS reached public spotlight. [read more]
Shy-Drager syndrome is a degenerative neurological disorder affecting the brain and other parts of the nervous system specifically the autonomic nervous system. The disorder is identified and was named after Dr. Milton Shy and Dr.Glen Drager; two researchers who described the syndrome in 1960. Patients with Shy-Drager syndrome experience wide ranging damage to the autonomic nervous system, the part of the nervous system responsible for controlling involuntary functions. [read more]
Silicosis is an occupational lung disease due to inhalation of silica dust. The disease is characterized by inflamed and nodular lesion scars in the upper lung lobes. Silicosis was first described in 1705 and is also known by other names like Grinder's disease and Potter's rot. Silicosis is the most common occupational lung disease in the world. [read more]
Smallpox is a very serious and infectious disease that is brought about by the variola virus. The name was derived from the pus-filled blisters that form and appear during the duration of the illness. Smallpox is contagious; it spreads through tiny drops of saliva when an infected person coughs, sneezes or talks usually during close face-to-face contact. [read more]
The medical term for this kind of infection is pharyngitis. It is the swelling of the pharynx and in most cases is painful. It is regarded to be caused by viral infection (90%) while the remainder is caused by bacterial infection and in rare cases oral thrush. Irritation due to pollutants or chemical substance, sometimes cause sore throat. [read more]
Spinal muscular atrophy is a degenerative group of disorder affecting the spinal cord and nerves, which results in muscle wasting and weakness caused by loss of motor neurons of the spinal cord and brainstem. [read more]
Splenic-flexure syndrome is a chronic disorder producing symptoms of pain that appears to be caused by trapped gas in the splenic flexure or bends of the colon. The pain that a suffering individual can experience is similar to the pain of a heart attack; can be defined as unbearably severe and debilitating. Passage of gas or stool may somehow diminish the abdominal pain. [read more]
Stargardt's disease is a rare medical condition referred to as an autosomal recessive condition which causes juvenile macular degeneration leading to progressive loss of vision. This medical condition is also known as fundus flavimaculatus and Stargardt macular dystrophy. This severe form of macular degeneration begins onset in late childhood. [read more]
This condition usually seen on people that were abducted, it is psychological response wherein hostages display signs of loyalty to the hostage-taker despite of the danger where the hostage has been placed. This syndrome is also associated to other situations that have similar tensions like battered person syndrome. It was named after the bank robbery that happened in Norrmalmstorg, Stockholm, Sweden where in the people were held hostage from August 23-28, 1973. The syndrome usually affects hostages if the hostage taking took several days. [read more]
Stretch marks are also termed as striae. These are stripe-like marks on the skin which resulted from rapid gain and loss of weight. It forms when the skin was stretched. In some cases it can also be a result of several skin diseases. [read more]
Striae are also commonly termed as stretch marks. These are stripe-like marks on the skin which resulted from rapid gain and loss of weight. It forms when the skin was stretched. In some cases it can also be a result of several skin diseases. [read more]
Sudden cardiac death (also known as sudden arrest) is death resulting from an abrupt loss of heart function (cardiac arrest). The victim may or may not have already been diagnosed with heart disease. The time and mode of death are both unexpected. It occurs within minutes after symptoms arise. [read more]
Sudeck's atrophy, or Reflex Sympathetic Dystrophy Syndrome (RSDS) is the inflammation of the muscle joints due to an incurred injury. This condition arises after a patient has undergone treatment for the affected joint. [read more]
Syphilis is a bacterial infection typically transmitted by sexual contact. The disease affects the genitals, skin and mucous membranes, but it may also involve many other parts of the body, including the brain and the heart. [read more]
Carnitine deficiency is a metabolic state in which carnitine concentrations in plasma and tissues are less than the levels needed for normal function of the organism. Biologic effects of low carnitine levels may not be clinically significant until they reach less than 10-20% of the norm. [read more]
Teratomas are tumors made up of more than a single cell type derived from more than one germ layer. [read more]
Tetanus is a medical condition that is marked by a prolonged contraction of skeletal muscle fibers. The primary symptoms are caused by tetanospasmin, a neurotoxin given out by the Gram-positive, obligate anaerobic bacterium Clostridium tetani. [read more]
Thallium Poisoning is a medical condition caused by exposure and ingestion of thallium which is a soft and malleable metal that was usually used to poison rats. [read more]
In medicine (oncology), thymoma is a tumor progressing from the thymus. It is made up of any type of thymic epithelial cell as well as lymphocytes that are typically abundant and probably not neoplastic. [read more]
Usually caused by ticks where in it's the general name for small arachnids in the Ixodoidea superfamily together with other mites that comprises the Acarina. [read more]
Toxocariasis (or Toxocarosis) is a helminth infection of humans caused by the dog or cat roundworm, Toxocara canis or Toxocara cati, respectively. It is an infection that is caused by the accidental ingestion of larvae of the dog roundworm Toxocara canis or the cat roundworm Toxocara cati. The soil of parks and playgrounds is commonly contaminated with the eggs of T canis, and infection may result to human disease in the liver, lung, muscle, eye, and brain. [read more]
The leading cause of blindness around the world, Trachoma is an infectious eye disease that resulted to about 8 million, visually-impaired people around the world. According to studies, the disease results to an estimated US $ 2.9 billion in lost productivity every year. [read more]
Also known as essential tremor or ET, Tremor hereditary essential is a neurological disorder characterized by shaking of hands and sometimes the other parts of the body such as the head, induced by intentional movements. Though the exact incident is unknown, ET is presumed to be the most common type of tremor and also the most commonly observed movement disorder. The disease was also previously known as ?benign essential tremor? but the ?benign? was removed due to the sometimes disabling nature of the disorder. [read more]
Trench mouth is severe type of gingivitis that usually causes painful, bleeding, infected gums and ulcerations. Usually develops in nations that have poor nutrition and poor living conditions. [read more]
Called Trypanophobia, this disorder is the extreme and irrational fear of medical procedures involving injections or hypodermic needles. It is occasionally referred to as aichmophobia, belonephobia, or enetophobia but are technically incorrect because they simply denote a ?fear of pins/needles? and do not refer to the medical aspect of trypanophobia. The most commonly used name is simply needle phobia. There are four types of Trypanophobia namely vaso-vagal, associative, resistive, and hyperalgesic. [read more]
A parasitic disease in people and animals, Trypanosomiasis or also known as Sleeping sickness is endemic in certain regions of Sub-Saharan Africa. The region covers 36 countries and 60 million people. Presently, it is estimated that about 50,000 to 70,000 people are infected with the disease. [read more]
An infection common among wild rodents, is also known as ?rabbit fever,? ?deer fly fever,? ?Ohara fever,? and ?Francis disease.? The bacterium causing the disease has several subspecies with varying degrees of virulence. Ticks and deer flies are the primary vectors of the disease but can also be spread through other arthropods. Its name was derived from Tulare County, California. [read more]
A genetic disease characterized by polyps in the colon in additions to tumors in the brain, Turcot syndrome is the association between familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer. The first reported case was done by Canadian surgeon Jacques Turcot, hence, the name. Turcot syndrome is inherited in an autosomal recessive manner with both parents carrying a Turcot gene and a 1 in 4 risk for each of their boys and girls of receiving both parental Turcot genes and suffering from the syndrome. [read more]
Typhus is an infectious disease caused by louse-born bacteria that is spread by lice or fleas. Its name is derived from the Greek typhos that means smoky or lazy, which describes the state of mind of those affected with the disease. It is often mistaken for dengue fever in tropical countries. The disease has 3 types namely epidemic typhus, endemic typhus and scrub typhus. [read more]
A genetic metabolic disorder, Galactosemia affects an individual's ability to properly metabolize the sugar galactose. In 1917, Goppert first described the disease, citing a defect in galactose metabolism that was identified by a groups led by Herman Kalckar in 1956. The disease's incidence is about 1 per 47,000 births (classic type) and is much rarer in Japan and much more common in Italy, particularly the traveler region. The disease is also very common within the Irish Traveler population. This is credited to consanguinity within a relatively small gene pool. [read more]
Ulcerative colitis or colitis ulcerosa is a type of inflammatory bowel disease that affects the large intestine and rectum. A systemic disease affects many parts of the body outside the intestine, it is often confused with irritable bowel syndrome (IBS). [read more]
Uncombable Hair Syndrome, also referred to as spun-glass hair, was discovered by French researchers in the early 1970s and was termed ?cheveux incoiffables.? Uncombable hair syndrome is characterized by scalp hair that has an irregular structure and that is arranged in jumbled bundles, making it impossible to comb. UHS however, is not a common phenomenon. Between 1973 and 1998, there have only been 60 reported cases of the disorder. [read more]
Also simply known as Urban syndrome, Urban Rogers Meyer syndrome is an extremely rare congenital disease has only been reported in two cases. The first to describe the disease was Urban et al. in 1979. [read more]
A term used to loosely describe the illness accompanying kidney failure, Uremia is also known as prerenal azotemia. Urea and other waste products are usually retained in the blood in kidney failure cases. [read more]
The normal color of the urine typically ranges from yellow to deep amber, which is the result of a certain pigment called urochrome. However, urine color is not always not and can be a potential signs of other underlying health conditions. There are certain food that can affect the color of the urine but unusual color should prompt the person to seek medical attention. [read more]
Also known as Muckle-Wells syndrome, Urticaria-deafness-amyloidosis (UDA) was first described in 1962 by Thomas James Muckle and Michael Vernon Wells. It is a rare autosomal disease, which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. MWS happens when a mutation in the CIAS1 gene leads to increased activity of the cryopyrin protein. The disorder is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease. [read more]
Vincent's disease is a medical condition that is usually characterized by the presence of ulcerating gingivitis. [read more]
It is a condition whereby the person is unable to absorb dietary fat due to an inability to secrete bile. It is characterized by neurological problems associated with nerve degeneration in hands and feet (Institute of medicine, Food and Nutrition Board. (2000) Dietary Reference intakes: Vitamin C, Vitamin E, Selenium and Carotenoids, National Academy Press, Washington D.C). [read more]
Vulvodynia is a medical condition which refers to the disorder which causes vulvar pain and discomfort. [read more]
Waardenburg Syndrome type 2 otherwise known as the WS2 is also one of the most common type of Waardenburg Syndrome that is characterized by deafness and abnormality in the structure which usually occur from the neutral crest. It was first identified in 1971 and used to describe a situation where the dystopia canthorum was not present (Arias S (1971). "Genetic heterogeneity in the Waardenburg syndrome". Birth Defects Orig. Artic. Ser. 07 (4): 87-101). Waardenburg Syndrome 2 has a sub-classification namely WS2A and WS2B, which are based on the causative gene involved. Its' symptoms includes moderate to profound hearing impairment. WS2 appears to be inherited as an autosomal recessive pattern where in there must be two copies of the altered gene for a person to be affected. There is no treatment for this type of Waardenburg Syndrome. [read more]
Weaver Syndrome otherwise known as the Weaver-Williams syndrome, is a congenital disorder which is usually linked to the unusual and rapid growth which may formally begin during the prenatal period. Its manifestation includes an unusual facial appearance and unusual skeletal features. It is a syndrome associated with the so called NSD1 (Douglas J, Hanks S, Temple IK, et al (2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes". Am. J. Hum. Genet. 72 (1)). associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. The first syndrome was first described in 1974 by Weaver (Weaver DD, Graham CB, Thomas IT, Smith DW (1974). "A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly". J. Pediatr. 84 (4): 547-52). [read more]
Weil Syndrome, otherwise known as the Leptospirosis or the canicola fever, canefield fever, nanukayami fever or the 7-day fever among other names, is a bacterial zoonotic disease which affects both human and animals like mammals, reptile, amphibians and birds. It is an infection that is commonly transmitted to human through allowing fresh water that is contaminated with animal urine to came in contact with the broken skin. It was first observed in 1907 from a post mortem renal tissue slice (Stimson AM (1907). "Note on an organism found in yellow-fever tissue." Public Health Reports 22:541). [read more]
Wolf-Hirschhorn syndrome otherwise known as the deletion 4p and 4p- syndrome was first studied in 1961 by H. Cooper and U. Wolf (Cooper H., Hirschhhorn K.(1961). Apparent deletion of short arms of one Chromosome (4 or 5) in a child with Defects of Midline Fusion. Mammalian Chrom Nwsl.4:14) It is said to be a phenotype resulting from a deletion of chromosomal material of the short arm of the 4th chromosome. [read more]
Wolfram syndrome otherwise known as the DIDMOAD which is the acronym for the Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness, generally a genetic disorder classified as a neurodegenerative disease which affects the brain and the central nervous system. It was first describe in 1938 by Dr. Don J. Wolfram, M.D. (Wolfram, D. J.; Wagener, H. P: Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 13: 715-718, 1938). [read more]
Wolman disease otherwise known as the Wolman's syndrome or acid lipase deficiency is a rare disorder that is a neonates and usually results to death of the infant within the first year of life. It was first observed in 1956 by Moshe Wolman, an Israeli neuropathologist (A. Abramov, S. Schorr and M. Wolman, Generalized xanthomatosis with calcified adrenals, Am J Dis Child 91 (1956), pp. 282?286). [read more]
Yusho disease, which literally means oil disease, is due to PCB poisoning. In 1968, a mass poisoning caused by PCBs occurred in northern Kyushu, Japan. A similar case that occurred in Taiwan was known as Yu-Cheng disease. [read more]