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Branched-chain Keto Acid Dehydrogenase Kinase Deficiency
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids. This results in delayed brain development, which may present as intellectual disability and autism spectrum disorder. Patients may suffer from epileptic seizure. History The disease was first described in 2012 in three unrelated families. Later on, García-Cazorla, Oyarzabal et al. confirmed that BCKDK mutations can result in neurobehavioral deficits in humans and support the rationale for dietary intervention. In their 2013 study, they found out BCAA (leucine, isoleucine, and valine) supplementation every 5 hours plus an high protein diet showed significant improvement for BCKDK deficit disease patients. Signs and symptoms BCKDK deficit disease symptoms may include autism, intellec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gross Motor Function Impairment
Gross may refer to: Finance *Gross Cash Registers, a defunct UK company with a high profile in the 1970s *Gross (economics), is the total income before deducting expenses Science and measurement * Gross (unit), a counting unit equal to 144 items *Gross weight * Gross heating value, see Heat of combustion Places * Gross, Illinois, an unincorporated community * Gross, Kansas, an unincorporated community *Gross mine, a gold mine in Russia *Gross, Nebraska, a village *Gross Hills, Ellsworth Land, Antarctica *33800 Gross, an asteroid Other uses *Gross (surname) *In golf, the gross score is the number of strokes taken before accounting for any handicap allowances *"In gross", legally associated with a legal person as opposed to a piece of land; as in: ** Easement in gross as opposed to ''easement appurtenant'' ** Hereditary in gross service, as opposed to ''serjeanty'' ** Profit in gross as opposed to ''profit appurtenant'' ** Villein in gross (tied to the lord) as opposed to ' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to gene ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Motor Functions
Motor control is the regulation of movement in organisms that possess a nervous system. Motor control includes reflexes as well as directed movement. To control movement, the nervous system must integrate multimodal sensory information (both from the external world as well as proprioception) and elicit the necessary signals to recruit muscles to carry out a goal. This pathway spans many disciplines, including multisensory integration, signal processing, coordination, biomechanics, and cognition, and the computational challenges are often discussed under the term sensorimotor control. Successful motor control is crucial to interacting with the world to carry out goals as well as for posture, balance, and stability. Some researchers (mostly neuroscientists studying movement, such as Daniel Wolpert and Randy Flanagan) argue that motor control is the reason brains exist at all. Neural control of muscle force All movements, e.g. touching your nose, require motor neurons to f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hospital Sant Joan De Déu Barcelona
Hospital Sant Joan de Déu Barcelona is a teaching hospital specializing in the fields of pediatrics, gynecology and obstetrics. It is located on Passeig Sant Joan de Déu in Esplugues de Llobregat, a municipality bordering Barcelona, Catalonia (Spain). It is a privately owned center concerted by the Catalan Health Service which belongs to the Hospitaller Order of St. John of God, religious organization that manages nearly 300 health centers over the world, one of which is St John of God Hospital Sierra Leone. The center has 362 beds and 12 operating rooms. It employs more than 1.200 professionals and attends every year more than 4.000 births, 130.000 emergencies, records 26.000 admissions and 13.000 surgeries are performed. History Hospital Sant Joan de Déu was founded in 1867. In 1973 it was a concerted by the public health service and in 1983 became part of the Public Hospital Network. Since 2009, the hospital is associated with the National Association of Children's Hosp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clumsiness
Clumsy or clumsiness may refer to: Behaviour *Accident-proneness *Developmental coordination disorder, a motor skills disorder which brings about chronic clumsiness Music * ''Clumsy'' (Our Lady Peace album), a 1997 album by Our Lady Peace ** "Clumsy" (Our Lady Peace song), from the above album * ''Clumsy'' (Samiam album), a 1994 album by Samiam * "Clumsy" (Fergie song), from the album ''The Dutchess'' * "Clumsy" (Britney Spears song), from the album ''Glory'' *"Clumsy", a song by All Time Low from the album ''Wake Up, Sunshine ''Wake Up, Sunshine'' is the eighth studio album by American rock band All Time Low. It was released on April 3, 2020, and is their second release with Fueled by Ramen following ''Last Young Renegade'' in 2017. The album's fourth and final single ...'' Literature *A graphic novel by Jeffrey Brown Software * "Clumsy" (Software), Software tool for network error simulation {{Disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Coordination Disorder
Developmental coordination disorder (DCD), also known as developmental motor coordination disorder, developmental dyspraxia or simply dyspraxia from the word 'praxis' meaning to do or act, is a neurodevelopmental disorder characterized by impaired coordination of physical movements as a result of brain messages not being accurately transmitted to the body. Deficits in fine or gross motor skills movements interfere with activities of daily living. It is often described as disorder in skill acquisition, where the learning and execution of coordinated motor skills is substantially below that expected given the individual's chronological age. Difficulties may present as clumsiness, slowness and inaccuracy of performance of motor skills (e.g., catching objects, using cutlery, handwriting, riding a bike, use of tools or participating in team sports or swimming). It is also often accompanied by difficulty with organisation and/or problems with attention, working memory and time managem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy is u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Language Impairment
Language disorders or language impairments are disorders that involve the processing of linguistic information. Problems that may be experienced can involve grammar ( syntax and/or morphology), semantics (meaning), or other aspects of language. These problems may be receptive (involving impaired language comprehension), expressive (involving language production), or a combination of both. Examples include specific language impairment, better defined as developmental language disorder, or DLD, and aphasia, among others. Language disorders can affect both spoken and written language, and can also affect sign language; typically, all forms of language will be impaired. Current data indicates that 7% of young children display language disorder, with boys being diagnosed twice as often as girls. Preliminary research on potential risk factors have suggested biological components, such as low birth weight, prematurity, general birth complications, and male gender, as well as fami ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
