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Ullrich Congenital Muscular Dystrophy
Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. Signs and symptoms The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows: * Muscle weakness * Difficulty walking * Contractures (predominantly in proximal muscles, e.g. neck) * Joint looseness (predominantly in distal joints) Genetics In terms of the genetics of Ullrich congenital muscular dystrophy, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive in nature. COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein. Diagnos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Muscular Dystrophy
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.update 2012 Signs and symptoms Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as ''hypotonia'', or lack of muscle tone, which can make an infant seem unstable. Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of the rarer forms of CMD can result in significant learning disabilities. Genetics Congenital muscular dystrophies (CMDs) are autosomal recessively inherited, except in some cases of de novo ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Muscular Dystrophy
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.update 2012 Signs and symptoms Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as ''hypotonia'', or lack of muscle tone, which can make an infant seem unstable. Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of the rarer forms of CMD can result in significant learning disabilities. Genetics Congenital muscular dystrophies (CMDs) are autosomal recessively inherited, except in some cases of de novo ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscular Dystrophy
Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs. Over 30 different disorders are classified as muscular dystrophies. Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually ultrarare – genetic disorders. Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rotenone
Rotenone is an odorless, colorless, crystalline isoflavone used as a broad-spectrum insecticide, piscicide, and pesticide. It occurs naturally in the seeds and stems of several plants, such as the jicama vine plant, and the roots of several members of Fabaceae. It was the first described member of the family of chemical compounds known as rotenoids. Discovery The earliest record of the now-known rotenone-containing plants used for killing leaf-eating caterpillars was in 1848, and for centuries, the same plants were used to poison fish. The active chemical component was first isolated in 1895 by a French botanist, Emmanuel Geoffroy, who called it ''nicouline'', from a specimen of ''Robinia nicou'', now called ''Lonchocarpus nicou'', while traveling in French Guiana. He wrote about this research in his thesis, published in 1895 after his death from a parasitic disease. In 1902 Kazuo Nagai, Japanese chemical engineer of the Government-General of Taiwan, isolated a pure crystalline ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclosporine A
Ciclosporin, also spelled cyclosporine and cyclosporin, is a calcineurin inhibitor, used as an immunosuppressant medication. It is a natural product. It is taken orally or intravenously for rheumatoid arthritis, psoriasis, Crohn's disease, nephrotic syndrome, and in organ transplants to prevent rejection. It is also used as eye drops for keratoconjunctivitis sicca (dry eyes). Common side effects include high blood pressure, headache, kidney problems, increased hair growth, and vomiting. Other severe side effects include an increased risk of infection, liver problems, and an increased risk of lymphoma. Blood levels of the medication should be checked to decrease the risk of side effects. Use during pregnancy may result in preterm birth; however, ciclosporin does not appear to cause birth defects. Ciclosporin is believed to work by decreasing the function of lymphocytes. It does this by forming a complex with cyclophilin to block the phosphatase activity of calcineuri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected family members. It can also occur due to another condition such as muscle spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. Diagnosis is confirmed with X-rays. Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. Treatment depends on the degree of curve, location, and cause. Minor curves may simply be watched periodically. Treatme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tracheostomy
Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the Vertebrate trachea, trachea (windpipe). The resulting Stoma (medicine), stoma (hole) can serve independently as an airway or as a site for a tracheal tube or tracheostomy tube to be inserted; this tube allows a person to breathe without the use of the nose or mouth. Etymology and terminology The etymology of the word ''tracheotomy'' comes from two Greek language, Greek words: the root (linguistics), root ''tom-'' (from Ancient Greek, Greek τομή ''tomḗ'') meaning "to cut", and the word ''trachea'' (from Greek τραχεία ''tracheía''). The word ''tracheostomy'', including the root ''stom-'' (from Greek στόμα ''stóma'') meaning "mouth," refers to the making of a semi-permanent or permanent opening, and to the opening itself. Some sources offer differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contracture
In pathology, a contracture is a permanent shortening of a muscle or joint. It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy, but can also be due to the congenital abnormal development of muscles and connective tissue in the womb. Contractures develop when normally elastic tissues such as muscles or tendons are replaced by inelastic tissues (fibrosis). This results in the shortening and hardening of these tissues, ultimately causing rigidity, joint deformities and a total loss of movement around the joint. Most of the physical therapy, occupational therapy and other exercise regimens targeted towards people with spasticity focuses on trying to prevent contractures from happening in the first place. However, research on sustained traction of connective tissue in approaches such as adaptive yoga has demonstrated that contracture can be reduced, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wiki Pre-op
A wiki ( ) is an online hypertext publication collaboratively edited and managed by its own audience, using a web browser. A typical wiki contains multiple pages for the subjects or scope of the project, and could be either open to the public or limited to use within an organization for maintaining its internal knowledge base. Wikis are enabled by wiki software, otherwise known as wiki engines. A wiki engine, being a form of a content management system, differs from other web application, web-based systems such as blog software, in that the content is created without any defined owner or leader, and wikis have little inherent structure, allowing structure to emerge according to the needs of the users. Wiki engines usually allow content to be written using a simplified markup language and sometimes edited with the help of a Online rich-text editor, rich-text editor. There are dozens of different wiki engines in use, both standalone and part of other software, such as bug tr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
