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Tel Hashomer Camptodactyly Syndrome
Tel Hashomer camptodactyly syndrome is a rare genetic disorder which is characterized by camptodactyly,( a condition where one or more fingers or toes are permanently bent), facial dysmorphisms, and fingerprint, skeletal and muscular abnormalities.This disorder is thought to be inherited in an autosomal recessive fashion. Presentation This disorder has symptoms that affect the feet, hands, muscles, fingerprints, skeleton, heart and back, these include: talipes equinovarus (clubfeet), thenar/hypothenar hypoplasia, abnormalities of the palmar crease and the fingerprints, hypertelorism, long philtrum, spina bifida, and mitral valve prolapse. Etimology This disorder was discovered in the late 1960s-mid 1970s by Richard M Goodman. a US-born geneticist working in Tel Aviv, Israel, since 2016, only 23 cases of this disorder have been reported in medical literature. Cases The following is a list of every case report of the disorder. # Goodman et al. describes Tel-Hashomer cam ... [...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] |
Tel Aviv
Tel Aviv-Yafo ( he, תֵּל־אָבִיב-יָפוֹ, translit=Tēl-ʾĀvīv-Yāfō ; ar, تَلّ أَبِيب – يَافَا, translit=Tall ʾAbīb-Yāfā, links=no), often referred to as just Tel Aviv, is the most populous city in the Gush Dan metropolitan area of Israel. Located on the Israeli coastal plain, Israeli Mediterranean coastline and with a population of , it is the Economy of Israel, economic and Technology of Israel, technological center of the country. If East Jerusalem is considered part of Israel, Tel Aviv is the country's second most populous city after Jerusalem; if not, Tel Aviv is the most populous city ahead of West Jerusalem. Tel Aviv is governed by the Tel Aviv-Yafo Municipality, headed by Mayor Ron Huldai, and is home to many List of diplomatic missions in Israel, foreign embassies. It is a Global city, beta+ world city and is ranked 57th in the 2022 Global Financial Centres Index. Tel Aviv has the List of cities by GDP, third- or fourth-largest e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hirsuitism
Hirsutism is excessive body hair on parts of the body where hair is normally absent or minimal. The word is from early 17th century: from Latin ''hirsutus'' meaning "hairy". It usually refers to a "male" pattern of hair growth in a female that may be a sign of a more serious medical condition, especially if it develops well after puberty. Cultural stigma against hirsutism can cause much psychological distress and social difficulty. Discrimination based on facial hirsutism often leads to the avoidance of social situations and to symptoms of anxiety and depression. Hirsutism is usually the result of an underlying endocrine imbalance, which may be adrenal, ovarian, or central. It can be caused by increased levels of androgen hormones. The amount and location of the hair is measured by a Ferriman-Gallwey score. It is different from hypertrichosis, which is excessive hair growth anywhere on the body. Treatments may include certain birth control pills, antiandrogens, or insul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
India
India, officially the Republic of India (Hindi: ), is a country in South Asia. It is the seventh-largest country by area, the second-most populous country, and the most populous democracy in the world. Bounded by the Indian Ocean on the south, the Arabian Sea on the southwest, and the Bay of Bengal on the southeast, it shares land borders with Pakistan to the west; China, Nepal, and Bhutan to the north; and Bangladesh and Myanmar to the east. In the Indian Ocean, India is in the vicinity of Sri Lanka and the Maldives; its Andaman and Nicobar Islands share a maritime border with Thailand, Myanmar, and Indonesia. Modern humans arrived on the Indian subcontinent from Africa no later than 55,000 years ago., "Y-Chromosome and Mt-DNA data support the colonization of South Asia by modern humans originating in Africa. ... Coalescence dates for most non-European populations average to between 73–55 ka.", "Modern human beings—''Homo sapiens''—originated in Africa. Then, int ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Latin America
Latin America or * french: Amérique Latine, link=no * ht, Amerik Latin, link=no * pt, América Latina, link=no, name=a, sometimes referred to as LatAm is a large cultural region in the Americas where Romance languages — languages derived from Latin — are predominantly spoken. The term was coined in the nineteenth century, to refer to regions in the Americas that were ruled by the Spanish, Portuguese and French empires. The term does not have a precise definition, but it is "commonly used to describe South America, Central America, Mexico, and the islands of the Caribbean." In a narrow sense, it refers to Spanish America plus Brazil (Portuguese America). The term "Latin America" is broader than categories such as ''Hispanic America'', which specifically refers to Spanish-speaking countries; and ''Ibero-America'', which specifically refers to both Spanish and Portuguese-speaking countries while leaving French and British excolonies aside. The term ''Latin America'' was f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
First-cousin Marriage
A cousin marriage is a marriage where the spouses are cousins (i.e. people with common grandparents or people who share other fairly recent ancestors). The practice was common in earlier times, and continues to be common in some societies today, though in some jurisdictions such marriages are prohibited. Worldwide, more than 10% of marriages are between first or second cousins. Cousin marriage is an important topic in anthropology and alliance theory. In some cultures and communities, cousin marriages are considered ideal and are actively encouraged and expected; in others, they are seen as incestuous and are subject to social stigma and taboo. Cousin marriage was historically practiced by indigenous cultures in Indigenous Australians, Australia, Indigenous peoples of the Americas#North America, North America, Indigenous peoples of the Americas#South America, South America, and Polynesians, Polynesia. In some jurisdictions, cousin marriage is Prohibited degree of kinship, lega ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brazil
Brazil ( pt, Brasil; ), officially the Federative Republic of Brazil (Portuguese: ), is the largest country in both South America and Latin America. At and with over 217 million people, Brazil is the world's fifth-largest country by area and the seventh most populous. Its capital is Brasília, and its most populous city is São Paulo. The federation is composed of the union of the 26 States of Brazil, states and the Federal District (Brazil), Federal District. It is the largest country to have Portuguese language, Portuguese as an List of territorial entities where Portuguese is an official language, official language and the only one in the Americas; one of the most Multiculturalism, multicultural and ethnically diverse nations, due to over a century of mass Immigration to Brazil, immigration from around the world; and the most populous Catholic Church by country, Roman Catholic-majority country. Bounded by the Atlantic Ocean on the east, Brazil has a Coastline of Brazi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Israel
Israel (; he, יִשְׂרָאֵל, ; ar, إِسْرَائِيل, ), officially the State of Israel ( he, מְדִינַת יִשְׂרָאֵל, label=none, translit=Medīnat Yīsrāʾēl; ), is a country in Western Asia. It is situated on the southeastern shore of the Mediterranean Sea and the northern shore of the Red Sea, and shares borders with Lebanon to the north, Syria to the northeast, Jordan to the east, and Egypt to the southwest. Israel also is bordered by the Palestinian territories of the West Bank and the Gaza Strip to the east and west, respectively. Tel Aviv is the economic and technological center of the country, while its seat of government is in its proclaimed capital of Jerusalem, although Israeli sovereignty over East Jerusalem is unrecognized internationally. The land held by present-day Israel witnessed some of the earliest human occupations outside Africa and was among the earliest known sites of agriculture. It was inhabited by the Canaanites ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitral Valve Prolapse
Mitral valve prolapse (MVP) is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. It is the primary form of myxomatous degeneration of the valve. There are various types of MVP, broadly classified as classic and nonclassic. In severe cases of classic MVP, complications include mitral regurgitation, infective endocarditis, congestive heart failure, and, in rare circumstances, cardiac arrest. The diagnosis of MVP depends upon echocardiography, which uses ultrasound to visualize the mitral valve. MVP is the most common valvular abnormality and is estimated to affect 2–3% of the population and 1 in 40 people might have it. The condition was first described by John Brereton Barlow in 1966. It was subsequently termed ''mitral valve prolapse'' by J. Michael Criley. Although mid-systolic click (sound of prolapsing mitral leaflet) and systolic murmur have been noticed earlier with stethoscope ... [...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 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 ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spina Bifida
Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases it may be in the middle back or neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy. Learning problems are rela ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philtrum
The philtrum ( la, philtrum from Ancient Greek ''phíltron,'' lit. "love charm"), or medial cleft, is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species. Function In most mammals, the philtrum is a narrow groove that may carry dissolved odorants from the rhinarium or nose pad to the vomeronasal organ via ducts inside the mouth. For humans and most primates, the philtrum survives only as a vestigial medial depression between the nose and upper lip. The human philtrum, bordered by ridges, is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher primates rely more on vision ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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