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Sakati–Nyhan–Tisdale Syndrome
Sakati–Nyhan–Tisdale syndrome is a rare genetic disorder that has been associated with abnormalities in the bones of the legs, congenital heart defects and craniofacial defects. The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly, or ACPS for short. Presentation The syndrome was first reported in an eight-year-old boy, but very few cases have been reported since then. The syndrome is detected by abnormalities noted at birth involving the head, limbs, heart, ears, and skin. It is characterized by premature closure of the fibrous joints between certain bones of the skull in a process known as craniosynostosis. As documented in the first case, the victim tends to suffer from cyanosis and other respiratory and breathing infections, all before the age of one. Body development subsequently slows down, but some problems can be fixed under proper guidance, such as learning to walk with special crutches by five years of age. Craniofacial problems ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
British Columbia
British Columbia is the westernmost Provinces and territories of Canada, province of Canada. Situated in the Pacific Northwest between the Pacific Ocean and the Rocky Mountains, the province has a diverse geography, with rugged landscapes that include rocky coastlines, sandy beaches, forests, lakes, mountains, inland deserts and grassy plains. British Columbia borders the province of Alberta to the east; the territories of Yukon and Northwest Territories to the north; the U.S. states of Washington (state), Washington, Idaho and Montana to the south, and Alaska to the northwest. With an estimated population of over 5.7million as of 2025, it is Canada's Population of Canada by province and territory, third-most populous province. The capital of British Columbia is Victoria, British Columbia, Victoria, while the province's largest city is Vancouver. Vancouver and its suburbs together make up List of census metropolitan areas and agglomerations in Canada, the third-largest metropolit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorders With OMIM But No Gene
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 g ..., 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] |
Congenital Heart Defects
A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. Congenital heart defects are the most common birth defect. In 2015, they were present in 48.9 million people globally. They affect between 4 and 75 per 1,000 live births, depending upon how they are diagnosed. In about 6 to 19 per 1,000 they cause a moderate to severe degree of problems. Congenital heart defects are t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of California, San Diego
The University of California, San Diego (UC San Diego in communications material, formerly and colloquially UCSD) is a public university, public Land-grant university, land-grant research university in San Diego, California, United States. Established in 1960 near the pre-existing Scripps Institution of Oceanography in La Jolla, UC San Diego is the southernmost of the ten campuses of the University of California. It offers over 200 undergraduate and graduate degree programs, enrolling 33,096 undergraduate and 9,872 graduate students, with the second largest student housing capacity in the nation. The university occupies near the Pacific coast. UC San Diego consists of 12 undergraduate, graduate, and professional schools as well as 8 undergraduate residential colleges. The university operates 19 organized research units as well as 8 School of Medicine research units, 6 research centers at Scripps Institution of Oceanography, and 2 multi-campus initiatives. UC San Diego is als ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
William Leo Nyhan
William Leo Nyhan (born March 13, 1926) is an American physician best known as the co-discoverer of Lesch–Nyhan syndrome. Nyhan currently serves as professor of pediatrics at University of California, San Diego School of Medicine in La Jolla, California. He has held positions at Johns Hopkins School of Medicine and the Miller School of Medicine at the University of Miami, and has served on a number of advisory committees, pediatric advisory boards, and research foundation boards. Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. He has studied the neuropathology of propionic acidemia, including the manifestation of basal ganglia infarction and its neurologic, non-metabolic presentation. Currently, he conducts research into the causes of progressive neurologic disability caused by methy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
United States
The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 U.S. state, states and a federal capital district, Washington, D.C. The 48 contiguous states border Canada to the north and Mexico to the south, with the semi-exclave of Alaska in the northwest and the archipelago of Hawaii in the Pacific Ocean. The United States asserts sovereignty over five Territories of the United States, major island territories and United States Minor Outlying Islands, various uninhabited islands in Oceania and the Caribbean. It is a megadiverse country, with the world's List of countries and dependencies by area, third-largest land area and List of countries and dependencies by population, third-largest population, exceeding 340 million. Its three Metropolitan statistical areas by population, largest metropolitan areas are New York metropolitan area, New York, Greater Los Angeles, Los Angel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nadia Awni Sakati
Nadia Awni Sakati () is a Syrian-Saudi pediatrician. Born on 23 May 1938 in Damascus, Syria, Sakati has contributed to genetics medicine. Sakati aspired to become a doctor since 8th grade at school. Her father supported her pursuing medical studies in the US, but he died six months before she graduated from medical school in Damascus in 1965. She was accepted to study in the US after that, but enrolled at the American University of Beirut to remain near her mother. Sakati spent her residency in Pediatrics at the American University of Beirut and Jackson Memorial Hospital in Miami, Florida. She earned her MD from Damascus University in 1965. She worked in the hospital of American University in Beirut, Lebanon and Jackson Memorial Hospital in Miami, Florida, US. In 1969, she was the Fellow in Genetics and Metabolism at the University of California, San Diego. She co-authored books with William Nyhan in "Genetic and Malformation Syndrome in Clinical Medicine, 1976" and Diagnostic Re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syria
Syria, officially the Syrian Arab Republic, is a country in West Asia located in the Eastern Mediterranean and the Levant. It borders the Mediterranean Sea to the west, Turkey to Syria–Turkey border, the north, Iraq to Iraq–Syria border, the east and southeast, Jordan to Jordan–Syria border, the south, and Israel and Lebanon to Lebanon–Syria border, the southwest. It is a republic under Syrian transitional government, a transitional government and comprises Governorates of Syria, 14 governorates. Damascus is the capital and largest city. With a population of 25 million across an area of , it is the List of countries and dependencies by population, 57th-most populous and List of countries and dependencies by area, 87th-largest country. The name "Syria" historically referred to a Syria (region), wider region. The modern state encompasses the sites of several ancient kingdoms and empires, including the Eblan civilization. Damascus was the seat of the Umayyad Caliphate and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ult ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Minister Of Health (Canada)
The minister of health () is the minister of the Crown in the Cabinet of Canada, Canadian Cabinet who is responsible for overseeing health-focused government agencies including Health Canada and the Public Health Agency of Canada, as well as enforcing the ''Canada Health Act'', the law governing Medicare (Canada), Canada's universal health care system. The current minister is Marjorie Michel. The minister is responsible for the federal government's Health Portfolio, which comprises: * Canadian Food Inspection Agency * Canadian Institutes of Health Research Health Canada* Patented Medicine Prices Review Board * Public Health Agency of Canada , the Health Portfolio consists of approximately 12,000 full-time equivalent employees and an annual budget of over $3.8 billion. History The first Health Canada, Department of Health in Canada was established in 1919, and unlike most other departments, had no designated minister. The President of the Queen's Privy Council for Canada, pres ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, but is an unusual condition in humans. The term is . Classification Syndactyly can be simple or complex. * In simple syndactyly, adjacent fingers or toes are joined by soft tissue. * In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete. * In complete syndactyly, the skin is joined all the way to the tip of the involved digits. * In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits. Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, means the skin is joined for most of the digit but in a proximal area there are gaps in the syndactyly with normal skin. This type of synda ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
