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Phocomelia
Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide and from genetic inheritance. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures. The term is from Ancient Greek φώκη ''phōkē'', " seal (animal)" + ''-o-'' interfix + μέλος ''melos'', "limb" + English suffix ''-ia''). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs ( dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836. Signs and symptoms The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. Usually the upper limbs a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Roberts Syndrome
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals. The syndrome is named after American surgeon and physician John Bingham Roberts (1852–1924), who first described it in 1919. Symptoms and signs The following is a list of symptoms that have been associated with Roberts syndrome: * Bilateral symmetric tetraphocomeli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmelia
Dysmelia (from the Greek (), "bad" + (), "limb" + English suffix -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.(2006) Dysmelia (Limb Deficiency/Reduction). pp 312-322. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. Types Dysmelia can refer to * missing (aplasia) limbs: amelia, oligodactyly, congenital amputation e.g. tibial or radial aplasia * malformation of limbs: shortening (micromelia, rhizomelia or mesomelia), ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot * too many limbs: polymelia, polydactyly, polysyndactyly * others: tetraamelia, hemimelia, symbrachydactyly Occurrence rate Birth defects involving limbs occur in 1 per 1000. Causes Dysmelia can be caused by * Inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes) * external causes during pregnancy (thus not ... [...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] |
Étienne Geoffroy Saint-Hilaire
Étienne Geoffroy Saint-Hilaire (15 April 177219 June 1844) was a French naturalist who established the principle of "unity of composition". He was a colleague of Jean-Baptiste Lamarck and expanded and defended Lamarck's evolutionary theories. Geoffroy's scientific views had a transcendental flavor (unlike Lamarck's materialistic views) and were similar to those of German morphologists like Lorenz Oken. He believed in the underlying unity of organismal design, and the possibility of the transmutation of species in time, amassing evidence for his claims through research in comparative anatomy, paleontology, and embryology. He is considered as a predecessor of the evo-devo evolutionary concept. Life and early career Geoffroy was born at Étampes (in present-day Essonne), and studied at the Collège de Navarre, in Paris, where he studied natural philosophy under M. J. Brisson. He then attended the lectures of Daubenton at the College de France and Fourcroy at the Jardin de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide Scandal
In the late 1950s and early 1960s and into the 80s, the use of thalidomide in 46 countries by women who were pregnant or who subsequently became pregnant resulted in the "biggest man-made medical disaster ever," with more than 10,000 children born with a range of severe deformities, such as phocomelia, as well as thousands of miscarriages. Thalidomide was introduced in 1953 as a tranquilizer, and was later marketed by the German pharmaceutical company Chemie Grünenthal under the trade name Contergan as a medication for anxiety, trouble sleeping, "tension", and morning sickness. It was introduced as a sedative and medication for morning sickness without having been tested on pregnant women. While initially deemed to be safe in pregnancy, concerns regarding birth defects were noted in 1961, and the medication was removed from the market in Europe that year. Development of thalidomide Thalidomide was first developed as a tranquilizer by Swiss pharmaceutical company Ciba i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mat Fraser (actor)
Mat Fraser (born 1962) is an English rock musician, actor, writer and performance artist. He has thalidomide-induced phocomelia. In 2017, he was cast to play Shakespeare's ''Richard III'' at the Hull Truck Theatre as part of Hull City of Culture 2017. Musical career Between 1980 and 1995 Fraser was a drummer with several rock bands including Fear of Sex, The Reasonable Strollers, Joyride, The Grateful Dub, and Living in Texas, who had a number one single in Italy. Fraser played the drums with Graeae Theatre Company's "Reasons to be Cheerful" at the 2012 Paralympics opening ceremony, where he also hosted the pre-televised section,Flippers and strippers – Mat Fraser and Julie Atlas Muz ime Out London, 31 August 2012 [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alison Lapper
Alison Lapper MBE (born 7 April 1965) is a British artist. She is the subject of the sculpture ''Alison Lapper Pregnant'', which was displayed on the fourth plinth in Trafalgar Square from September 2005 until late 2007. She and her late son Parys featured in the BBC docuseries ''Child of Our Time''. Early life Alison Lapper was born on 7 April 1965 in Burton upon Trent, Staffordshire. She was born without arms and with shortened legs, a condition called phocomelia. She was institutionalized in her infancy, and is still distant from her relatives. When she was fitted with artificial limbs, she felt that their aim was not to help her, but to make her look less disconcerting to others. She abandoned them, finding life far easier without external aids. She left Chailey Heritage School, Sussex, at the age of 17, and moved to London. She then attended the Queen Elizabeth's Foundation for Disabled People, in Banstead, Surrey until the age of 19, where she learned to drive. She comple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalidomide
Thalidomide, sold under the brand names Contergan and Thalomid among others, is a medication used to treat a number of cancers (including multiple myeloma), graft-versus-host disease, and a number of skin conditions including complications of leprosy. While it has been used in a number of HIV-associated conditions, such use is associated with increased levels of the virus. It is taken by mouth. Common side effects include sleepiness, rash, and dizziness. Severe side effects include tumor lysis syndrome, blood clots, and peripheral neuropathy. Use in pregnancy may harm the fetus, including resulting in malformation of the limbs. In males who are taking the medication, contraception is essential if a partner could become pregnant. It is an immunomodulatory medication and works by a number of mechanisms, including stimulating T cells and decreasing TNF-α production. Thalidomide was first marketed in 1957 in West Germany, where it was available over the counter. Whe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ronan Tynan
Ronan Tynan (born 14 May 1960) is an Irish tenor singer and former Paralympic athlete. He was a member of The Irish Tenors re-joining in 2011 while continuing to pursue his solo career since May 2004. In the United States, audiences know him for his involvement with that vocal group and for his renditions of "God Bless America." He is also known for participating in the 1984 and 1988 Summer Paralympics. Life and career Tynan was born in Dublin, Ireland. His family home is in Johnstown, County Kilkenny, Ireland. He was born with phocomelia, causing both of his lower legs to be underdeveloped; his legs were unusually short (he is now 6-foot 4), his feet were splayed outward, and he had three toes on each foot. He was one of a set of twins; his twin brother Edmond died at 11 months old. At age 20, he had his legs amputated below the knee, after a back injury from a car accident; the injury to his back made it impossible for him to continue using prosthetic legs without the am ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1984 Summer Paralympics
The 1984 International Games for the Disabled, canonically the 1984 Summer Paralympics were the seventh Paralympic Games to be held. There were two separate competitions: one in Stoke Mandeville, England, United Kingdom for wheelchair athletes with spinal cord injuries and the other at the Mitchel Athletic Complex and Hofstra University on Long Island, New York, United States for wheelchair and ambulatory athletes with cerebral palsy, amputees, and ''les autres'' [the others] (conditions as well as blind and visually impaired athletes). Stoke Mandeville had been the location of the Stoke Mandeville Games from 1948 onwards, seen as the precursors to the Paralympic Games, as the 9th International Stoke Mandeville Games in Rome in 1960 are now recognised as the first Summer Paralympics. As with the 1984 Summer Olympics, the Soviet Union and other communist countries except China, East Germany, Hungary, Poland and Yugoslavia boycotted the Paralympic Games. The Soviet Union did not pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prescription Medication
A prescription drug (also prescription medication or prescription medicine) is a pharmaceutical drug that legally requires a medical prescription to be dispensed. In contrast, over-the-counter drugs can be obtained without a prescription. The reason for this difference in substance control is the potential scope of misuse, from drug abuse to practicing medicine without a license and without sufficient education. Different jurisdictions have different definitions of what constitutes a prescription drug. In North America, ℞, usually printed as "Rx", is used as an abbreviation of the word "prescription". It is a contraction of the Latin word "''recipe''" (an imperative form of "recipere") meaning "take". Prescription drugs are often dispensed together with a monograph (in Europe, a Patient Information Leaflet or PIL) that gives detailed information about the drug. The use of prescription drugs has been increasing since the 1960s. Regulation Australia In Australia, the Stand ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
