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Wilson's Disease
Wilson's disease (also called hepatolenticular degeneration) is a genetic disorder characterized by the excess build-up of copper in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis. Wilson's disease is caused by a mutation in the Wilson disease protein (''ATP7B'') gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. Diagnosis may be difficult and often involves a combination of blood tests, urine tests, and a liver biopsy. Genetic testing may be used to screen family members of those affected. Wilson's disease is typically tre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wilson's Temperature Syndrome
Wilson's (temperature) syndrome, also called Wilson's thyroid syndrome or WTS, is a term used in alternative medicine to improperly attribute various common and non-specific symptoms to abnormally low body temperature and impaired conversion of thyroxine (T4) to triiodothyronine (T3), despite normal thyroid function tests. , a physician who invented the concept and named it after himself, treated these symptoms with sustained-release triiodothyronine (SR-T3) until one of his patients died and he was banned from prescribing this treatment any longer. Wilson's Syndrome is not an actual medical condition, and medical expert groups have warned against it as a potentially dangerous misunderstanding of physiology. The American Thyroid Association (ATA) released an official statement asserting that Wilson's syndrome is at odds with established knowledge of thyroid function and describing the diagnostic criteria for Wilson's syndrome as "imprecise" and "non-specific". After one of Wil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tremor
A tremor is an involuntary, somewhat rhythmic muscle contraction and relaxation involving neural oscillations, oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, face, head, vocal folds, trunk, and legs. Most tremors occur in the hands. In some people, a tremor is a symptom of another neurological disorder. Types Tremor is most commonly classified by clinical features and cause or origin. Some of the better-known forms of tremor, with their symptoms, include the following: * Cerebellar tremor (also known as intention tremor) is a slow, broad tremor of the extremities that occurs at the end of a purposeful movement, such as trying to press a button or touching a finger to the tip of one's nose. In classic cerebellar tremor, a lesion on one side of the brain produces a tremor in that same side of the body that worsens with directed movement. Cerebellar damage can also produce a "win ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Tubular Acidosis
Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine. In renal physiology, when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron, allowing for exchange of salts, acid equivalents, and other solutes before it drains into the bladder as urine. The metabolic acidosis that results from RTA may be caused either by insufficient secretion of hydrogen ions (which are acidic) into the latter portions of the nephron (the distal tubule) or by failure to reabsorb sufficient bicarbonate ions (which are alkaline) from the filtrate in the early portion of the nephron (the proximal tubule). Although a metabolic acidosis also occurs in those with chronic kidney disease, the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Failure
Liver failure is the inability of the liver to perform its normal synthetic and metabolic functions as part of normal physiology. Two forms are recognised, acute and chronic (cirrhosis). Recently, a third form of liver failure known as acute-on-chronic liver failure (ACLF) is increasingly being recognized. Acute Acute liver failure is defined as "the rapid development of hepatocellular dysfunction, specifically coagulopathy and mental status changes (encephalopathy) in a patient without known prior liver disease".:1557 The disease process is associated with the development of a coagulopathy of liver aetiology, and clinically apparent altered level of consciousness due to hepatic encephalopathy. Several important measures are immediately necessary when the patient presents for medical attention. The diagnosis of acute liver failure is based on a physical exam, laboratory findings, patient history, and past medical history to establish mental status changes, coagulopathy, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
D-penicillamine
Penicillamine, sold under the brand name of Cuprimine among others, is a medication primarily used for the treatment of Wilson's disease. It is also used for people with kidney stones who have high urine cystine levels, rheumatoid arthritis, and various heavy metal poisonings. It is taken by mouth. Penicillamine was approved for medical use in the United States in 1970. It is on the World Health Organization's List of Essential Medicines. Medical uses It is used as a chelating agent: * In Wilson's disease, a rare genetic disorder of copper metabolism, penicillamine treatment relies on its binding to accumulated copper and elimination through urine. Succimer (dimercaptosuccinic acid) is increasingly used in place of penicillamine. * Penicillamine was the second line treatment for arsenic poisoning, after dimercaprol (BAL). It is no longer recommended. In cystinuria, a hereditary disorder in which high urine cystine levels lead to the formation of cystine stones, pe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trientine
Triethylenetetramine (TETA and trien), also known as trientine (INN) when used medically, is an organic compound with the formula H2NHCH2CH2NH2sub>2. The pure free base is a colorless oily liquid, but, like many amines, older samples assume a yellowish color due to impurities resulting from air oxidation. It is soluble in polar solvents. The branched isomer tris(2-aminoethyl)amine and piperazine derivatives may also be present in commercial samples of TETA. The hydrochloride salts are used medically as a treatment for copper toxicity. Uses Epoxy uses The reactivity and uses of TETA are similar to those for the related polyamines ethylenediamine and diethylenetriamine. It is primarily used as a crosslinker ("hardener") in epoxy curing. TETA, like other aliphatic amines, react quicker and at lower temperatures than aromatic amines due to less negative steric effects since the linear nature of the molecule provides it the ability to rotate and twist. Medical uses The hydrochlo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Biopsy
Liver biopsy is the biopsy (removal of a small sample of tissue) from the liver. It is a medical test that is done to aid diagnosis of liver disease, to assess the severity of known liver disease, and to monitor the progress of treatment. Medical uses Liver biopsy is often required for the diagnosis of a liver problem (jaundice, abnormal blood tests) where blood tests, such as hepatitis A serology, have not been able to identify a cause. It is also required if hepatitis is possibly the result of medication, but the exact nature of the reaction is unclear. Alcoholic liver disease and tuberculosis of the liver may be diagnosed through biopsy. Direct biopsy of tumors of the liver may aid the diagnosis, although this may be avoided if the source is clear (e.g. spread from previously known colorectal cancer). Liver biopsy will likely remain particularly important in the diagnosis of unexplained liver disease. Non-invasive tests for liver fibrosis in alcoholic, nonalcoholic and viral ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bile
Bile (from Latin ''bilis''), also known as gall, is a yellow-green/misty green fluid produced by the liver of most vertebrates that aids the digestion of lipids in the small intestine. In humans, bile is primarily composed of water, is produced continuously by the liver, and is stored and concentrated in the gallbladder. After a human eats, this stored bile is discharged into the first section of the small intestine, known as the duodenum. Composition In the human liver, bile is composed of 97–98% water, 0.7% bile salts, 0.2% bilirubin, 0.51% fats ( cholesterol, fatty acids, and lecithin), and 200 meq/L inorganic salts. The two main pigments of bile are bilirubin, which is orange-yellow, and its oxidised form biliverdin, which is green. When mixed, they are responsible for the brown color of feces. About of bile is produced per day in adult human beings. Function Bile or gall acts to some extent as a surfactant, helping to emulsify the lipids in food. B ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transport Protein
A transport protein (variously referred to as a transmembrane pump, transporter, escort protein, acid transport protein, cation transport protein, or anion transport protein) is a protein that serves the function of moving other materials within an organism. Transport proteins are vital to the growth and life of all living things. There are several different kinds of transport proteins. Carrier proteins are proteins involved in the movement of ions, small molecules, or macromolecules, such as another protein, across a biological membrane. Carrier proteins are integral membrane proteins; that is, they exist within and span the membrane across which they transport substances. The proteins may assist in the movement of substances by facilitated diffusion (i.e., passive transport) or active transport. These mechanisms of movement are known as carrier-mediated transport. Each carrier protein is designed to recognize only one substance or one group of very similar substances. Resea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
