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Amyloid Polyneuropathy
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation. Classification The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin. Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first. "FAP-I" and "FAP-II" are associated with transthyretin. ( Senile systemic amyloidosis bbreviated "SSA"is also associated with transthyretin aggregation.) "FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1. "FAP-IV" is also known as " Finni ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autonomic Nervous System
The autonomic nervous system (ANS), sometimes called the visceral nervous system and formerly the vegetative nervous system, is a division of the nervous system that operates viscera, internal organs, smooth muscle and glands. The autonomic nervous system is a control system that acts largely unconsciously and regulates bodily functions, such as the heart rate, its Myocardial contractility, force of contraction, digestion, respiratory rate, pupillary dilation, pupillary response, Micturition, urination, and Animal sexual behaviour, sexual arousal. The fight-or-flight response, also known as the acute stress response, is set into action by the autonomic nervous system. The autonomic nervous system is regulated by integrated reflexes through the brainstem to the spinal cord and organ (anatomy), organs. Autonomic functions include control of respiration, heart rate, cardiac regulation (the cardiac control center), vasomotor activity (the vasomotor center), and certain reflex, reflex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrinogen
Fibrinogen (coagulation factor I) is a glycoprotein protein complex, complex, produced in the liver, that circulates in the blood of all vertebrates. During tissue and vascular injury, it is converted Enzyme, enzymatically by thrombin to fibrin and then to a fibrin-based Thrombus, blood clot. Fibrin clots function primarily to occlude blood vessels to stop bleeding. Fibrin also binds and reduces the activity of thrombin. This activity, sometimes referred to as antithrombin I, limits clotting. Fibrin also mediates blood platelet and endothelial cell spreading, tissue fibroblast proliferation, Capillary action, capillary tube formation, and angiogenesis and thereby promotes revascularization and wound healing. Reduced and/or dysfunctional fibrinogens occur in various congenital and acquired human List of fibrinogen disorders, fibrinogen-related disorders. These disorders represent a group of rare conditions in which individuals may present with severe episodes of pathological bleed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tafamidis
Tafamidis, sold under the brand names Vyndaqel and Vyndamax, is a medication used to delay disease progression in adults with certain forms of transthyretin amyloidosis. It can be used to treat both hereditary forms, familial amyloid cardiomyopathy and familial amyloid polyneuropathy, as well as wild-type transthyretin amyloidosis, which formerly was called senile systemic amyloidosis. It works by stabilizing the quaternary structure of the protein transthyretin. In people with transthyretin amyloidosis, transthyretin falls apart and forms clumps called (amyloid) that harm tissues including nerves and the heart. The US Food and Drug Administration considers tafamidis to be a first-in-class medication. Medical use Tafamidis is used to delay nerve damage in adults who have transthyretin amyloidosis with polyneuropathy, or heart disease in adults who have transthyretin amyloidosis with cardiomyopathy. It is taken by mouth. Women should not get pregnant while taking it and sho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Medicines Agency
The European Medicines Agency (EMA) is an agency of the European Union (EU) in charge of the evaluation and supervision of pharmaceutical products. Prior to 2004, it was known as the European Agency for the Evaluation of Medicinal Products or European Medicines Evaluation Agency (EMEA).Set up by EC Regulation No. 2309/93 as the European Agency for the Evaluation of Medicinal Products, and renamed by EC Regulation No. 726/2004 to the European Medicines Agency, it had the acronym EMEA until December 2009. The European Medicines Agency does not call itself EMA either – it has no official acronym but may reconsider if EMA becomes commonly accepted (secommunication on new visual identity an). The EMA was set up in 1995, with funding from the European Union and the pharmaceutical industry, as well as indirect subsidy from member states, its stated intention to harmonise (but not replace) the work of existing national medicine regulatory bodies. The hope was that this plan would ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Transplantation
Liver transplantation or hepatic transplantation is the replacement of a diseased liver with the healthy liver from another person (allograft). Liver transplantation is a treatment option for end-stage liver disease and acute liver failure, although availability of donor organs is a major limitation. Liver transplantation is highly regulated, and only performed at designated transplant medical centers by highly trained transplant physicians. Favorable outcomes require careful screening for eligible recipients, as well as a well-calibrated live or deceased donor match. Medical uses Liver transplantation is a potential treatment for acute or chronic conditions which cause irreversible and severe ("end-stage") liver dysfunction. Since the procedure carries relatively high risks, is resource-intensive, and requires major life modifications after surgery, it is reserved for dire circumstances. Judging the appropriateness/effectiveness of liver transplant on case-by-case basis is ... [...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] |
Familial Visceral Amyloidosis
Familial renal amyloidosis is a form of amyloidosis primarily presenting in the kidney. It is associated most commonly with congenital mutations in the fibrinogen alpha chain and classified as a dysfibrinogenemia (see Hereditary Fibrinogen Aα-Chain Amyloidosis). and, less commonly, with congenital mutations in apolipoprotein A1 and lysozyme Lysozyme (, muramidase, ''N''-acetylmuramide glycanhydrolase; systematic name peptidoglycan ''N''-acetylmuramoylhydrolase) is an antimicrobial enzyme produced by animals that forms part of the innate immune system. It is a glycoside hydrolase .... It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950. References Further reading * * External links Glomerular diseases Amyloidosis {{Genetic-disorder-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysozyme
Lysozyme (, muramidase, ''N''-acetylmuramide glycanhydrolase; systematic name peptidoglycan ''N''-acetylmuramoylhydrolase) is an antimicrobial enzyme produced by animals that forms part of the innate immune system. It is a glycoside hydrolase that catalyzes the following process: : Hydrolysis of (1→4)-β-linkages between ''N''-acetylmuramic acid and ''N''-acetyl-D-glucosamine residues in a peptidoglycan and between ''N''-acetyl-D-glucosamine residues in chitodextrins Peptidoglycan is the major component of gram-positive bacterial cell wall. This hydrolysis in turn compromises the integrity of bacterial cell walls causing lysis of the bacteria. Lysozyme is abundant in secretions including tears, saliva, human milk, and mucus. It is also present in cytoplasmic granules of the macrophages and the polymorphonuclear neutrophils (PMNs). Large amounts of lysozyme can be found in egg white. C-type lysozymes are closely related to alpha-lactalbumin, α-lactalbumin in sequence and st ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finnish Type Amyloidosis
Lattice corneal dystrophy type is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo Biber in 1890.H. Biber: Über einige seltenere Hornhauterkrankungen. Zürich, 1890. Inaugural Dissertation, Zurich, 1890. Cited by O. Haab: Die gittrige Keratitis. Lattice dystrophy gets its name from an accumulation of amyloid deposits, or abnormal protein fibers, throughout the middle and anterior stroma. Presentation Filamentous opacities appear in the cornea with intertwining delicate branching processes. During an eye examination, the doctor sees these deposits in the stroma as clear, comma-shaped overlapping dots and branching filaments, creating a lattice effect. Over time, the lattice lines will grow opaque and involve more of the stroma. They will also gradually converge, giving the cornea a cloudiness that may also reduc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerves
A nerve is an enclosed, cable-like bundle of nerve fibers (called axons). Nerves have historically been considered the basic units of the peripheral nervous system. A nerve provides a common pathway for the electrochemical nerve impulses called action potentials that are transmitted along each of the axons to peripheral organs or, in the case of sensory nerves, from the periphery back to the central nervous system. Each axon is an extension of an individual neuron, along with other supportive cells such as some Schwann cells that coat the axons in myelin. Each axon is surrounded by a layer of connective tissue called the endoneurium. The axons are bundled together into groups called fascicles, and each fascicle is wrapped in a layer of connective tissue called the perineurium. The entire nerve is wrapped in a layer of connective tissue called the epineurium. Nerve cells (often called neurons) are further classified as either sensory or motor. In the central nervous system, t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wild-type Transthyretin Amyloid
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA), is a disease that typically affects the heart and tendons of elderly people. It is caused by the accumulation of a wild-type (that is to say a normal) protein called transthyretin. This is in contrast to a related condition called transthyretin-related hereditary amyloidosis where a genetically mutated transthyretin protein tends to deposit much earlier than in WTTA due to abnormal conformation and bioprocessing. It belongs to a group of diseases called amyloidosis, chronic progressive conditions linked to abnormal deposition of normal or abnormal proteins, because these proteins are misshapen and cannot be properly degraded and eliminated by the cell metabolism. Signs and symptoms Wild-type transthyretin amyloid accumulates mainly in the heart, where it causes stiffness and often thickening of its walls, leading consequently to shortness of breath and intolerance to exercise, called diasto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy, also called hereditary transthyretin amyloidosis (hATTR), or Corino de Andrade's disease, is an autosomal dominant neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in 1952. FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary cause of death for 70% of supercentenarians who have been autopsied. FAP can be ameliorated by liver transplantation. Presentation Usually manifesting itself between 20 and 40 years of age, it is characterized by pain, paresthesia, muscular weakness and autonomic dysfunction. In its terminal state, the kidneys and the heart are affected. FAP is characterized by the systemic deposition of amyloidogenic variants of the transthyretin protein, especially in the peripheral nervous system, causing a progressive sensory and motor polyneuropathy. Cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
