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Schwartz–Jampel Syndrome
Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene (''HSPG2'') which causes osteochondrodysplasia associated with myotonia. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. Cause Schwartz–Jampel syndrome is caused by mutations in the ''HSPG2'' gene, which makes the protein perlecan, which is found in muscle and cartilage. Relationships between the disease and perlecan deficiency have been studied. In Schwartz–Jampel syndrome, it is suspected that abnormal perlecan function leads to a deficiency in acetylcholinesterase, an enzyme involved in breaking down the neurotransmitter acetylcholine, which incites muscle contraction. If acetylcholine is not broken down, it can lead to prolonged muscle contraction/stiffening of the muscles (myotonia). Diagnosis Schwartz–Jampel syndrome is diagnosed on the basis of characteristic facial features, skeletal features and myotonia. Blood tests may show elevat ... [...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 effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...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 breeding, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TLC (TV Network)
TLC is an American cable television channel owned by Warner Bros. Discovery. First established in 1980 as The Learning Channel, it initially focused on educational and instructional programming. By the late 1990s, after an acquisition by the owners of Discovery Channel earlier in the decade, the network began to pivot towards reality television programming—predominantly focusing on programming involving lifestyles and personal stories—to the point that the previous initialism of "The Learning Channel" was phased out. As of February 2015, TLC is available to watch in approximately 95 million American households (81.6% of households with cable television) in the United States. History 1972–1980: Early history as the Appalachian Educational Satellite Project TLC's history traces to the 1972 formation of the Appalachian Educational Satellite Project (AESP), a distance education project formed by the Appalachian Regional Commission (ARC), in participation with the Education Sa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Facebook
Facebook is an online social media and social networking service owned by American company Meta Platforms. Founded in 2004 by Mark Zuckerberg with fellow Harvard College students and roommates Eduardo Saverin, Andrew McCollum, Dustin Moskovitz, and Chris Hughes, its name comes from the face book directories often given to American university students. Membership was initially limited to Harvard students, gradually expanding to other North American universities and, since 2006, anyone over 13 years old. As of July 2022, Facebook claimed 2.93 billion monthly active users, and ranked third worldwide among the most visited websites as of July 2022. It was the most downloaded mobile app of the 2010s. Facebook can be accessed from devices with Internet connectivity, such as personal computers, tablets and smartphones. After registering, users can create a profile revealing information about themselves. They can post text, photos and multimedia which are shared with any ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wendy Holden (author, Born 1961)
Wendy Holden (born 1961), also known as Taylor Holden, is an author, journalist and former war correspondent who has written more than thirty books. She was born in Pinner, North London and now lives in Suffolk, England. Her bestselling title is ''Born Survivors: Three Young Mothers and their extraordinary story of courage, defiance and survival,'' a Goodreads finalist, published in over 20 countries. She is the ghostwriter of Captain Tom Moore's autobiography, ''Tomorrow Will Be A Good Day'', published by Penguin Books on 17 September 2020. An audiobook edition is read by Sir Derek Jacobi. Publications Novels *''The Sense of Paper: A Novel of Obsessions,'' about a former war correspondent running from the ghosts of her past, was published by Random House, New York in 2006 and as an e-book in 2013; *''Mr Scraps,'' 2013, a novella published as an ebook. *''The Cruelty of Beauty'', about a female glassmaker in pre-revolution Czechoslovakia - published by Mlada Fronta in 2019 and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The British Animal Honours
The British Animal Honours is a British awards ceremony which honoured the country's most extraordinary animals and the people who dedicate their lives to them. The programme was broadcast by ITV and was presented by Paul O'Grady. Animals are nominated for honours by members of the public, with the winners being decided by a panel of animal experts. Award ceremonies 2013 The first award ceremony aired on Thursday 18 April 2013 on ITV and was presented by Paul O'Grady. The ceremony also featured one-off performances from the National Theatre's production of ''War Horse'', a dancing dog troupe led by Kennel Club trainer Gina Pink and a showpiece by the South Wales Police Dog Section. The award ceremony was sponsored by ''Animal Friends Pet Insurance'', who also sponsor O'Grady's other programme ''For the Love of Dogs''. Expert Panel The panel of experts consists of: Virginia McKenna, OBE, Celia Hammond, Sean Wensley, Jill Nelson, Simon King, Laura Jenkins, Emily Beament, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Crufts
Crufts is an international dog show held annually in the United Kingdom, first held in 1891. Organised and hosted by The Kennel Club, it is the largest show of its kind in the world. Crufts is centred on a championship conformation show for dogs, and includes a large trade show of mainly dog-related goods and services, as well as competitions in dog agility, Obedience training, obedience, flyball and heelwork to music. Winner of the annual Friends for Life competition which celebrates unsung canine heroes is also announced at Crufts and it hosts finals of Scruffts, a crossbreed competition. It is held over four days (Thursday to Sunday) in early March at the National Exhibition Centre (NEC) in Solihull, England. Crufts consists of several competitions occurring at the same time. The main competition is for the List of Best in Show winners of Crufts, Best in Show award, which is hotly contested by dogs and their owners throughout the world. The Kennel Club was criticised on the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuro-ophthalmologist
Neuro-ophthalmology is an academically-oriented subspecialty that merges the fields of neurology and ophthalmology, often dealing with complex systemic diseases that have manifestations in the visual system. Neuro-ophthalmologists initially complete a residency in either neurology or ophthalmology, then do a fellowship in the complementary field. Since diagnostic studies can be normal in patients with significant neuro-ophthalmic disease, a detailed medical history and physical exam is essential, and neuro-ophthalmologists often spend a significant amount of time with their patients. Common pathology referred to a neuro-ophthalmologist includes afferent visual system disorders (e.g. optic neuritis, optic neuropathy, papilledema, brain tumors or strokes) and efferent visual system disorders (e.g. anisocoria, diplopia, ophthalmoplegia, ptosis, nystagmus, blepharospasm, seizures of the eye or eye muscles, and hemifacial spasm). The largest international society of neuro-ophthalmologis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medical degree, a doctor specialising in ophthalmology must pursue additional postgraduate residency (medicine), residency training specific to that field. This may include a one-year integrated internship that involves more general medical training in other fields such as internal medicine or general surgery. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat eye diseases, implement laser therapy, and perform surgery when needed. Ophthalmologists provide both primary and specialty eye care - medical and surgical. Most ophthalmologists participate in academic research on eye diseases at some point in their training an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malignant Hyperthermia
Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular medications used during General anaesthesia, general anesthesia, among those who are susceptible. Symptoms include tetany, muscle rigidity, hyperthermia, fever, and a tachycardia, fast heart rate. Complications can include rhabdomyolysis, muscle breakdown and hyperkalemia, high blood potassium. Most people who are susceptible to MH are generally unaffected when not exposed to triggering agents. Exposure to triggering agents (certain inhalational anaesthetic, volatile anesthetic agents or Suxamethonium chloride, succinylcholine) can lead to the development of MH in those who are susceptible. Susceptibility can occur due to at least six genetic mutations, with the most common one being of the RYR1 gene. These genetic variations are often inherited from a person's parents in an Dominance (genetics), autosomal dominant manner. The condition may also occur as a new mutation or be associated w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Botox
Botulinum toxin, or botulinum neurotoxin (BoNT), is a neurotoxic protein produced by the bacterium ''Clostridium botulinum'' and related species. It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromuscular junction, thus causing flaccid paralysis. The toxin causes the disease botulism. The toxin is also used commercially for medical and cosmetic purposes. The seven main types of botulinum toxin are named types A to G (A, B, C1, C2, D, E, F and G). New types are occasionally found. Types A and B are capable of causing disease in humans, and are also used commercially and medically. Types C–G are less common; types E and F can cause disease in humans, while the other types cause disease in other animals. Botulinum toxins are among the most potent toxins known. Intoxication can occur naturally as a result of either wound or intestinal infection or by ingesting formed toxin in food. The estimated human lethal dose of type A toxin is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blepharospasm
Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be distinguished from the more common, and milder, involuntary quivering of an eyelid, known as myokymia, or fasciculation. In most cases, blepharospasm symptoms last for a few days and then disappear without treatment, but in some cases the twitching is chronic and persistent, causing life-long challenges. In these cases, the symptoms are often severe enough to result in functional blindness. The person's eyelids feel like they are clamping shut and will not open without great effort. People have normal eyes, but for periods of time are effectively blind due to their inability to open their eyelids. In contrast, the reflex blepharospasm is due to any pain in and around the eye. It is of two types: essential and reflex blepharospasm. The benign essential blepharospasm (BEB) is a focal dystonia—a neurological movement disorder involving involuntary and sustained contractions of the m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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