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Gangliosidosis 2
The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease. Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal. All three disorders are rare in the general population. Tay–Sachs disease has become famous as a public health model because an enzyme assay test for TSD was discovered and developed in the late 1960s and early 1970s, providing one of the first "mass screening" to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-hexosaminidase
Hexosaminidase (, ''β-acetylaminodeoxyhexosidase'', ''N-acetyl-β-D-hexosaminidase'', ''N-acetyl-β-hexosaminidase'', ''N-acetyl hexosaminidase'', ''β-hexosaminidase'', ''β-acetylhexosaminidinase'', ''β-D-N-acetylhexosaminidase'', ''β-N-acetyl-D-hexosaminidase'', ''β-N-acetylglucosaminidase'', ''hexosaminidase A'', ''N-acetylhexosaminidase'', ''β-D-hexosaminidase'') is an enzyme involved in the hydrolysis of terminal ''N''-acetyl-D-hexosamine residues in ''N''-acetyl-β-D-hexosaminides. Elevated levels of hexosaminidase in blood and/or urine have been proposed as a biomarker of relapse in the treatment of alcoholism. Hereditary inability to form functional hexosaminidase enzymes are the cause of lipid storage disorders Tay-Sachs disease and Sandhoff disease. Isoenzymes and genes Lysosomal A, B, and S isoenzymes Functional lysosomal β-hexosaminidase enzymes are dimeric in structure. Three isoenzymes are produced through the combination of α and β subunits to form ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthopedics
Orthopedic surgery or orthopedics (American and British English spelling differences, alternative spelling orthopaedics) is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal Physical trauma, trauma, Spinal disease, spine diseases, Sports injury, sports injuries, degenerative diseases, infections, tumors and congenital disorders. Etymology Nicholas Andry coined the word in French as ', derived from the Ancient Greek words ("correct", "straight") and ("child"), and published ''Orthopedie'' (translated as ''Orthopædia: Or the Art of Correcting and Preventing Deformities in Children'') in 1741. The word was Assimilation (linguistics), assimilated into English as ''orthopædics''; the Typographic ligature, ligature ''æ'' was common in that era for ''ae'' in Greek- and Latin-based words. As the name implies, the discipline was initially developed with atte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Migraine
Migraine (, ) is a complex neurological disorder characterized by episodes of moderate-to-severe headache, most often unilateral and generally associated with nausea, and light and sound sensitivity. Other characterizing symptoms may include vomiting, cognitive dysfunction, allodynia, and dizziness. Exacerbation or worsening of headache symptoms during physical activity is another distinguishing feature. Up to one-third of people with migraine experience aura, a premonitory period of sensory disturbance widely accepted to be caused by cortical spreading depression at the onset of a migraine attack. Although primarily considered to be a headache disorder, migraine is highly heterogenous in its clinical presentation and is better thought of as a spectrum disease rather than a distinct clinical entity. Disease burden can range from episodic discrete attacks to chronic disease. Migraine is believed to be caused by a mixture of environmental and genetic factors that influe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Multiple Sclerosis
Multiple sclerosis (MS) is an autoimmune disease resulting in damage to myelinthe insulating covers of nerve cellsin the brain and spinal cord. As a demyelinating disease, MS disrupts the nervous system's ability to Action potential, transmit signals, resulting in a range of signs and symptoms, including physical, cognitive disability, mental, and sometimes psychiatric problems. Symptoms include double vision, vision loss, eye pain, muscle weakness, and loss of Sensation (psychology), sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms). In relapsing forms of MS, symptoms may disappear completely between attacks, although some permanent neurological problems often remain, especially as the disease advances. In progressive forms of MS, bodily function slowly deteriorates once symptoms manifest and will steadily worsen if left untreated. While its cause is unclear, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Restless Legs Syndrome
Restless legs syndrome (RLS), also known as Willis–Ekbom disease (WED), is a neurological disorder, usually chronic, that causes an overwhelming urge to move one's legs. There is often an unpleasant feeling in the legs that improves temporarily by moving them. This feeling is often described as aching, tingling, or crawling in nature. Occasionally, arms may also be affected. The feelings generally happen when at rest and therefore can make it hard to sleep. Sleep disruption may leave people with RLS sleepy during the day, with low energy, and irritable or depressed. Additionally, many have limb twitching during sleep, a condition known as periodic limb movement disorder. RLS is not the same as habitual foot-tapping or leg-rocking. Signs and symptoms RLS sensations range from pain or aching in the muscles, to "an itch you can't scratch", a "buzzing sensation", an unpleasant "tickle that won't stop", a "crawling" feeling, or limbs jerking while awake. The sensations typically ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or—in the United States—Lou Gehrig's disease (LGD), is a rare, Terminal illness, terminal neurodegenerative disease, neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control Skeletal muscle, voluntary muscle contraction. ALS is the most common form of the motor neuron diseases. ALS often presents in its early stages with gradual muscle Spasticity, stiffness, Fasciculation, twitches, Muscle weakness, weakness, and Muscle atrophy, wasting. Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost. While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with cognitive disorder, thinking and behavior. Depending on which of the aforementioned symptoms develops first, ALS is classified as ''limb-onset'' (b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lewy Body Dementia
Lewy body dementia (LBD) is an umbrella term for two similar and common subtypes of dementia: dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD). Both are characterized by changes in thinking, movement, behavior, and mood. The two conditions have similar features and may have similar causes, and are believed to belong on a spectrum of Lewy body disease that includes Parkinson's disease. As of 2014, they were more often misdiagnosed than any other common dementia. The exact cause is unknown, but involves widespread deposits of abnormal clumps of protein that form in neurons of the diseased brain. Known as Lewy bodies (discovered in 1912 by Frederic Lewy) and Lewy neurites, these clumps affect both the central nervous system and the autonomic nervous system. The fifth revision of the ''Diagnostic and Statistical Manual of Mental Disorders'' (DSM-5) gives Lewy body disease as the causative subtype of dementia with Lewy bodies, and Parkinson's disease as the ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia–telangiectasia
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A–T affects many parts of the body: * It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination. * It weakens the immune system, causing a predisposition to infection. * It prevents the repair of broken DNA, increasing the risk of cancer. Symptoms most often first appear in early childhood (the toddler stage) when children begin to sit or walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still, or sitting. In late pre-school and early school age, they develop difficulty moving their eyes in a natural manner from one place to the next (oculomotor apraxia). They develop sl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Priority Review
Priority review is a program of the United States Food and Drug Administration (FDA) to expedite the review process for drugs that are expected to have a particularly great impact on the treatment of a disease. The priority review voucher program is a program that grants a voucher for priority review to a drug developer as an incentive to develop treatments for disease indications with limited profitability. Priority review vouchers are currently earned by pharmaceutical companies for the development and approval of drugs treating neglected tropical diseases, rare pediatric diseases, and "medical countermeasures" for terrorism. The voucher can be used for future drugs that could have wider indications for use, but the company is required to pay a fee (approximately $2.8 million) to use the voucher. When seeking approval for a drug, manufacturers can apply to the FDA for priority review. This is granted when a drug is intended to treat a serious condition and would "provide a sig ... [...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] |
Acetylleucine
Acetylleucine (''N''-acetyl-leucine) is a modified leucine amino acid. Two forms are commercialized: ''N''-acetyl-DL-leucine (sold under the brand Tanganil, among others, and used in the treatment of vertigo Vertigo is a condition in which a person has the sensation that they are moving, or that objects around them are moving, when they are not. Often it feels like a spinning or swaying movement. It may be associated with nausea, vomiting, perspira ...) and ''N''-acetyl-L-leucine (levacetylleucine, sold under the brand name Aqneursa, and used for the treatment of neurological manifestations of Niemann-Pick disease type C). References {{Authority control Alpha-Amino acids Amino acid derivatives Acetamides ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
