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Walker–Warburg Syndrome
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), is a rare form of autosomal recessive congenital muscular dystrophy. It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. Presentation The clinical manifestations present at birth are generalized hypotonia, muscle weakness, developmental delay with intellectual disability and occasional seizures. The congenital muscular dystrophy is characterized by hypoglycosylation of α-dystroglycan. Tho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fukutin-related Protein
Fukutin-related protein (FKRP) is also known as FKRP_HUMAN, LGMD2I, MDC1C, MDDGA5, MDDGB5, and MDDGC5. FKRP can be located in the brain, cardiac muscle and skeletal muscle, and in cells it is found in the Golgi apparatus. Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons. The genomic location of the FKRP gene is on chromosome 19. FKRP is a ribitol-5-phosphate (enzyme) glycosyltranferase, which means this enzyme helps create glycosidic linkages to an acceptor. In glycosylation of α-dystroglycan (sugar chain) it adds a ribitol-5-phosphate onto the M3 core O-mannosylation of α-dystroglycan to create O-linked mannosylation. Without this linkage α-dystroglycan will not function properly, this can cause issues with the cytoskeleton, and extracellular matrix. In skeletal muscles the α-dystroglycan helps stabilize and protect muscle fibers, in the brain it directs movement of nerve cells. This could be caused by mutations that binds r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme Defects
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Nervous System
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
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 be vi ... [...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] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Roberta A
''Roberta'' is a musical from 1933 with music by Jerome Kern, and lyrics and book by Otto Harbach. The musical is based on the novel ''Gowns by Roberta'' by Alice Duer Miller. It features the songs " Yesterdays", "Smoke Gets in Your Eyes", " Let's Begin", "You're Devastating", "Something Had To Happen", "The Touch of Your Hand" and "I'll Be Hard to Handle". Productions The original Broadway production opened at the New Amsterdam Theatre on November 18, 1933, and ran for 295 performances closing on 21 July 1934. It starred Tamara Drasin (billed as Tamara), Bob Hope, George Murphy, Lyda Roberti, Fred MacMurray, Fay Templeton, Ray Middleton (billed as Raymond E. Middleton), Allan Jones, and Sydney Greenstreet. Hope, Murphy, MacMurray and Greenstreet were not yet the Hollywood stars they would soon be, and Middleton was not the Broadway leading man he would become after '' Annie Get Your Gun''. An Australian production opened at His Majesty's Theatre in Melbourne on December 2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Juan M
''Juan'' is a given name, the Spanish and Manx versions of ''John''. It is very common in Spain and in other Spanish-speaking communities around the world and in the Philippines, and also (pronounced differently) in the Isle of Man. In Spanish, the diminutive form (equivalent to ''Johnny'') is , with feminine form (comparable to ''Jane'', ''Joan'', or ''Joanna'') , and feminine diminutive (equivalent to ''Janet'', ''Janey'', ''Joanie'', etc.). Chinese terms * ( or 娟, 隽) 'beautiful, graceful' is a common given name for Chinese women. * () The Chinese character 卷, which in Mandarin is almost homophonic with the characters for the female name, is a division of a traditional Chinese manuscript or book and can be translated as 'fascicle', 'scroll', 'chapter', or 'volume'. Notable people * Juan (footballer, born 1979), Brazilian footballer * Juan (footballer, born 1982), Brazilian footballer * Juan (footballer, born March 2002), Brazilian footballer * Juan (footballer, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mette Warburg
Mette is a female given name of Scandinavian origin. It's descended from the name Margaret and is also considered a variant of Matilda. Notable people with the name include: * Mette Marit, Crown Princess of Norway *Mette Pedersen (born 1973), Danish badminton player *Mette Sørensen (born 1975), Danish badminton player *Mette Abildgaard, Danish politician * Mette Andersen, Danish cyclist * Mette Koefoed Bjørnsen (1920–2008), Danish author, conciliator and economist *Mette Henriette, Norwegian performing artist and composer *Mette Bergmann, Norwegian discus thrower *Mette Frederiksen, Danish Prime Minister *Mette Jacobsen, Danish swimmer * Mette Madsen (1924–2015), Danish politician and writer * Mette Oxvang (born 1937), Danish high jumper *Mette Towley, American actress and dancer *Mette Schjoldager, Danish badminton player *Mette Veiseth, Danish model, Miss Norway in 1987 *Mette Lindberg Mette Lindberg (born 2 December 1983) is a Danish vocalist for psychedelic pop group Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arthur Earl Walker
Arthur Earl Walker (March 12, 1907 – January 1, 1995) was a Canadian-born American neurosurgeon, neuroscientist and epileptologist remembered for the eponymous syndromes Dandy–Walker syndrome, Dandy–Walker-like syndrome and Walker–Warburg syndrome. During his career he published over 400 research articles and 8 books. Biography Arthur Earl Walker was born in 1907 in Winnipeg, Manitoba, and graduated from the University of Alberta in 1930. He undertook training at Yale University and in Amsterdam and Brussels, and continued his training as instructor of neurological surgery at the University of Chicago from 1937, becoming one of a new breed of neurosurgeons who advanced the scientific study of neurology and neurosurgery. During the Second World War he worked as Chief of Neurology at Cushing General Hospital in Framingham, Massachusetts, where he developed an interest in post-traumatic epilepsy. In 1947, he became professor of neurological surgery at the Johns Hopkins Hospit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
