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Scalp–ear–nipple Syndrome
Scalp–ear–nipple (SEN) syndrome (also known as "Finlay–Marks syndrome") is a condition associated with aplasia cutis congenita. Presentation The key affected features of this condition are described in its name. Scalp: There are raised nodules over the posterior aspect of the scalp, covered by scarred non-hair-bearing skin. Ears: The shape of the pinnae is abnormal, with the superior edge of the pinnae being turned over more than usual. The size of the tragus, antitragus and lobule may be small. Nipples: The nipples are absent or rudimentary. The breasts may be small or virtually absent. Other features of the conditionSobreira NL, Brunoni D, Cernach MC, Perez AB. Finlay-Marks (SEN) syndrome: a sporadic case and the delineation of the syndrome. Am J Med Genet A 2006 Feb 1;140(3):300-2. include: * Dental abnormalities, such as missing or widely spaced teeth * Syndactyly, where toes or fingers may be partially joined proximally Erratum in: Am J Med Genet A 2005 Jul 1;1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
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 XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular 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 chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Missense mutations change amino acids, which in turn alter proteins and may alter a protein's function or structure. These mutations may arise spontaneously from mutagens like UV radiation, tobacco smoke, an error in DNA replication, and other factors. Screening for missense mutations can be done by sequencing the genome of an organism and comparing the sequence to a reference genome to analyze for differences. Missense mutations can be repaired by the cell when there are errors in DNA replication by using mechanisms such as DNA proofreading and DNA mismatch repair, mismatch repair. They can also be repaired by using genetic engineering technologies or pharmaceuticals. Some notable examples of human diseases caused by missense mutations are Rett syndrome, cystic fibrosis, and Sickle cell disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
United Arab Emirates
The United Arab Emirates (UAE), or simply the Emirates, is a country in West Asia, in the Middle East, at the eastern end of the Arabian Peninsula. It is a Federal monarchy, federal elective monarchy made up of Emirates of the United Arab Emirates, seven emirates, with Abu Dhabi serving as its capital. It shares land borders with Oman to the east and northeast, and with Saudi Arabia to the southwest; as well as maritime borders in the Persian Gulf with Qatar and Iran, and with Oman in the Gulf of Oman. , the UAE has an estimated population of over 10 million, of which 11% are Emiratis; Dubai is List of cities in the United Arab Emirates, its most populous city and is an international hub. Islam is the State religion, official religion and Arabic is the official language, while English is the most spoken language and the language of business. The United Arab Emirates Oil reserves in the United Arab Emirates, oil and natural gas reserves are the world's List of countries by pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Australia
Australia, officially the Commonwealth of Australia, is a country comprising mainland Australia, the mainland of the Australia (continent), Australian continent, the island of Tasmania and list of islands of Australia, numerous smaller islands. It has a total area of , making it the list of countries and dependencies by area, sixth-largest country in the world and the largest in Oceania. Australia is the world's flattest and driest inhabited continent. It is a megadiverse countries, megadiverse country, and its size gives it a wide variety of landscapes and Climate of Australia, climates including deserts of Australia, deserts in the Outback, interior and forests of Australia, tropical rainforests along the Eastern states of Australia, coast. The ancestors of Aboriginal Australians began arriving from south-east Asia 50,000 to 65,000 years ago, during the Last Glacial Period, last glacial period. By the time of British settlement, Aboriginal Australians spoke 250 distinct l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
France
France, officially the French Republic, is a country located primarily in Western Europe. Overseas France, Its overseas regions and territories include French Guiana in South America, Saint Pierre and Miquelon in the Atlantic Ocean#North Atlantic, North Atlantic, the French West Indies, and List of islands of France, many islands in Oceania and the Indian Ocean, giving it Exclusive economic zone of France, one of the largest discontiguous exclusive economic zones in the world. Metropolitan France shares borders with Belgium and Luxembourg to the north; Germany to the northeast; Switzerland to the east; Italy and Monaco to the southeast; Andorra and Spain to the south; and a maritime border with the United Kingdom to the northwest. Its metropolitan area extends from the Rhine to the Atlantic Ocean and from the Mediterranean Sea to the English Channel and the North Sea. Its Regions of France, eighteen integral regions—five of which are overseas—span a combined area of and hav ... [...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] |
United Kingdom
The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in Northwestern Europe, off the coast of European mainland, the continental mainland. It comprises England, Scotland, Wales and Northern Ireland. The UK includes the island of Great Britain, the north-eastern part of the island of Ireland, and most of List of islands of the United Kingdom, the smaller islands within the British Isles, covering . Northern Ireland shares Republic of Ireland–United Kingdom border, a land border with the Republic of Ireland; otherwise, the UK is surrounded by the Atlantic Ocean, the North Sea, the English Channel, the Celtic Sea and the Irish Sea. It maintains sovereignty over the British Overseas Territories, which are located across various oceans and seas globally. The UK had an estimated population of over 68.2 million people in 2023. The capital and largest city of both England and the UK is London. The cities o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiff
Cardiff (; ) is the capital city, capital and List of urban areas in the United Kingdom, largest city of Wales. Cardiff had a population of in and forms a Principal areas of Wales, principal area officially known as the City and County of Cardiff (). The city is the List of cities in the United Kingdom, eleventh largest in the United Kingdom. Located in the South East Wales, southeast of Wales and in the Cardiff Capital Region, Cardiff is the county town of the Historic counties of Wales, historic county of Glamorgan and in 1974–1996 of South Glamorgan. It belongs to the Eurocities network of the largest European cities. A small town until the early 19th century, its prominence as a port for coal when mining began in the region helped its expansion. In 1905, it was ranked as a city and in 1955 proclaimed capital of Wales. The Cardiff urban area covers a larger area outside the county boundary, including the towns of Dinas Powys and Penarth. Cardiff is the main commercial ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Breast Reconstruction
Breast reconstruction is the surgical process of rebuilding the shape and look of a breast, most commonly in women who have had surgery to treat breast cancer. It involves using autologous tissue, prosthetic implants, or a combination of both with the goal of reconstructing a natural-looking breast. This process often also includes the rebuilding of the nipple and areola, known as nipple-areola complex (NAC) reconstruction, as one of the final stages. Generally, the aesthetic appearance is acceptable to the woman, but the reconstructed area is commonly completely numb afterwards, which results in loss of sexual function as well as the ability to perceive pain caused by burns and other injuries. Timing Breast reconstruction can be performed either immediately following the mastectomy or as a separate procedure at a later date, known as immediate reconstruction and delayed reconstruction, respectively. The decision of when breast reconstruction will take place is patient-speci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 is called 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incompl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
