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Kelley-Seegmiller Syndrome
Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the ''HPRT1'' gene located on the X chromosome. LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins. The HGPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine, associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Self Harm
Self-harm is intentional behavior that is considered harmful to oneself. This is most commonly regarded as direct injury of one's own skin tissues usually without a suicidal intention. Other terms such as cutting, self-injury and self-mutilation have been used for any self-harming behavior regardless of suicidal intent. It is not the same as masochism, as no sexual or nonsexual pleasure is obtained. The most common form of self-harm is using a sharp object to cut the skin. Other forms include scratching, hitting, or burning body parts. While earlier usage included interfering with wound healing, excessive skin-picking, hair-pulling, and the ingestion of toxins, current usage distinguishes these behaviors from self-harm. Likewise, tissue damage from drug abuse or eating disorders is not considered self-harm because it is ordinarily an unintended side-effect but context may be needed as intent for such acts varies. Although self-harm is by definition non-suicidal, it may still b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
William Nyhan
William Leo Nyhan (born March 13, 1926) is an American physician best known as the co-discoverer of Lesch–Nyhan syndrome. Nyhan currently serves as professor of pediatrics at UC San Diego School of Medicine in La Jolla, California. He has held positions at Johns Hopkins School of Medicine and the University of Miami Leonard M. Miller School of Medicine and has served on a number of advisory committees, pediatric advisory boards, and research foundation boards. Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. He has studied the neuropathology of propionic acidemia, including the manifestation of basal ganglia infarction and its neurologic, non-metabolic presentation. Currently, he conducts research into the causes of progressive neurologic disability caused by methylmalonic acidemia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, acid–base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hydrogen, ammonium, potassium and uric acid. The nephron is the structural and functional unit of the kidney. Each adult human kidney contains around 1 million nephrons, while a mouse kidney con ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trait ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vitamin B12
Vitamin B12, also known as cobalamin, is a water-soluble vitamin involved in metabolism. It is one of eight B vitamins. It is required by animals, which use it as a cofactor in DNA synthesis, in both fatty acid and amino acid metabolism. It is important in the normal functioning of the nervous system via its role in the synthesis of myelin, and in the circulatory system in the maturation of red blood cells in the bone marrow. Plants do not need cobalamin and carry out the reactions with enzymes that are not dependent on it. Vitamin B12 is the most chemically complex of all vitamins, and for humans, the only vitamin that must be sourced from animal-derived foods or from supplements. Only some archaea and bacteria can synthesize vitamin B12. Most people in developed countries get enough B12 from the consumption of meat or foods with animal sources. Foods containing vitamin B12 include meat, clams, liver, fish, poultry, eggs, and dairy products. Many breakfast cereals a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Etiology (medicine)
Cause, also known as etiology () and aetiology, is the reason or origination of something. The word '' etiology'' is derived from the Greek , ''aitiologia'', "giving a reason for" (, ''aitia'', "cause"; and , ''-logia''). Description In medicine, etiology refers to the cause or causes of diseases or pathologies. Where no etiology can be ascertained, the disorder is said to be idiopathic. Traditional accounts of the causes of disease may point to the "evil eye". The Ancient Roman scholar Marcus Terentius Varro put forward early ideas about microorganisms in a 1st-century BC book titled ''On Agriculture''. Medieval thinking on the etiology of disease showed the influence of Galen and of Hippocrates. Medieval European doctors generally held the view that disease was related to the air and adopted a miasmatic approach to disease etiology. Etiological discovery in medicine has a history in Robert Koch's demonstration that species of the pathogenic bacteria '' Mycobacterium tuberc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age but can start at any age. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as ''juvenile HD'', which typically present with the slow movement symptoms of Parkinson's ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Self-injury
Self-harm is intentional behavior that is considered harmful to oneself. This is most commonly regarded as direct injury of one's own skin tissues usually without a suicidal intention. Other terms such as cutting, self-injury and self-mutilation have been used for any self-harming behavior regardless of suicidal intent. It is not the same as masochism, as no sexual or nonsexual pleasure is obtained. The most common form of self-harm is using a sharp object to cut the skin. Other forms include scratching, hitting, or burning body parts. While earlier usage included interfering with wound healing, excessive skin-picking, hair-pulling, and the ingestion of toxins, current usage distinguishes these behaviors from self-harm. Likewise, tissue damage from drug abuse or eating disorders is not considered self-harm because it is ordinarily an unintended side-effect but context may be needed as intent for such acts varies. Although self-harm is by definition non-suicidal, it may still ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gout
Gout ( ) is a form of inflammatory arthritis characterized by recurrent attacks of a red, tender, hot and swollen joint, caused by deposition of monosodium urate monohydrate crystals. Pain typically comes on rapidly, reaching maximal intensity in less than 12 hours. The joint at the base of the big toe is affected in about half of cases. It may also result in tophi, kidney stones, or kidney damage. Gout is due to persistently elevated levels of uric acid in the blood. This occurs from a combination of diet, other health problems, and genetic factors. At high levels, uric acid crystallizes and the crystals deposit in joints, tendons, and surrounding tissues, resulting in an attack of gout. Gout occurs more commonly in those who: regularly drink beer or sugar-sweetened beverages; eat foods that are high in purines such as liver, shellfish, or anchovies; or are overweight. Diagnosis of gout may be confirmed by the presence of crystals in the joint fluid or in a deposit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperuricosuria
Hyperuricosuria is a medical term referring to the presence of excessive amounts of uric acid in the urine. For men this is at a rate greater than 800 mg/day, and for women, 750 mg/day. Notable direct causes of hyperuricosuria are dissolution of uric acid crystals in the kidneys or urinary bladder, and hyperuricemia. Notable indirect causes include uricosuric drugs, rapid breakdown of bodily tissues containing large quantities of DNA and RNA, and a diet high in purine. Medications that may contribute to the cure or amelioration of hyperuricosuria include allopurinol which acts by inhibiting xanthine oxidase and reducing uric acid production. Hyperuricosuria ''may'' be a medical sign of: *Gout (very common) *Kidney stones of uric acid ( uric acid nephrolithiasis) *Acute uric acid nephropathy *Acute kidney failure *Tumor lysis syndrome * Fanconi syndrome * Dent's disease (very rare) Classification Acute hyperuricosuria is a common complication of tumor lysis syndrome. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Purine
Purine is a heterocyclic aromatic organic compound that consists of two rings ( pyrimidine and imidazole) fused together. It is water-soluble. Purine also gives its name to the wider class of molecules, purines, which include substituted purines and their tautomers. They are the most widely occurring nitrogen-containing heterocycles in nature. Dietary sources Purines are found in high concentration in meat and meat products, especially internal organs such as liver and kidney. In general, plant-based diets are low in purines. High-purine plants and algae include some legumes (lentils and black eye peas) and spirulina. Examples of high-purine sources include: sweetbreads, anchovies, sardines, liver, beef kidneys, brains, meat extracts (e.g., Oxo, Bovril), herring, mackerel, scallops, game meats, yeast (beer, yeast extract, nutritional yeast) and gravy. A moderate amount of purine is also contained in red meat, beef, pork, poultry, fish and seafood, asparagus, cauliflo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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