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Klippel–Trénaunay Syndrome
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinct from, the less common Parkes Weber syndrome. The classical triad of Klippel–Trenaunay syndrome consists of: # vascular malformations of the capillary, venous and lymphatic vessels; # varicosities of unusual distribution, particularly the lateral venous anomaly; and # unilateral soft and skeletal tissue hypertrophy, usually the lower extremity. It belongs to the PIK3CA-related overgrowth spectrum of diseases which are caused by mutations in the PIK3CA gene. Signs and symptoms The birth defect is diagnosed by the presence of a combination of t ...
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Congenital Disorder
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or developmental disability, 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 disorder, metabolic and degenerative disease, degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic disorder, genetic or chromosome abnormality, chromosomal disorders, exposure to certain medications or chemicals, or certain vertically transmitted infection, infections during pregnancy. Risk factors include folate deficiency, alcohol drink, d ...
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AGGF1
Angiogenic factor with G patch and FHA domains 1 is a protein that in humans is encoded by the ''AGGF1'' gene. AGGF1 is a human gene that functions as an angiogenic factor with a G-patch and forkhead-associated domain. This gene is predominantly expressed in activated, plump endothelial cells and acts to regulate angiogenesis and vascular development. AGGF1 is known to interact with a wide range of proteins involved in vascular development. Mutations to AGGF1 have been implicated in multiple cancers and is known to cause the rare congenital condition, Klippel-Trenaunay syndrome. Gene The gene was originally named VG5Q, indicating that it was a vascular gene on chromosome 5, but the name was later changed to reflect its function, instead of just its location. The AGGF1 gene promoter does not contain a TATA box and contains 2 transcription start sites that are -367 and -364 base pairs ahead of the base translation start site. The gene promoter contains over 50 CpG islands, whi ...
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EUROCAT (medicine)
EUROCAT is a network of population-based congenital anomaly registries across Europe for the monitoring, surveillance and research of congenital anomalies. It was founded in 1979. As of January 2023, the network has 43 member registries from 23 countries covering more than 25% of European births per year. The detailed registry descriptions can be found on the EUROCAT website Objectives EUROCAT's objectives are to: * Provide essential epidemiologic information on congenital anomalies in Europe. * Facilitate the early warning of teratogenic exposures. * Evaluate the effectiveness of primary prevention. * Assess the impact of developments in prenatal screening. * Act as an information and resource center regarding clusters or exposures or risk factors for concern. * Provide a ready collaborative network and infrastructure for research related to the causes and prevention of congenital anomalies and the treatment and care of affected children. * Act as a catalyst for the sett ...
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Frederick Parkes Weber
Frederick Parkes Weber (8 May 1863 – 2 June 1962) was an English dermatologist and author who practiced medicine in London. Background Weber's father, Sir Hermann David Weber (1823–1918), was a personal physician to Queen Victoria. Weber was educated at Charterhouse and Trinity College, Cambridge. He subsequently studied medicine at St. Bartholomew's Hospital, and abroad at Vienna and Paris. Career Returning to England, he worked (since 1894) at the German Hospital, Dalston (London), later he became House Physician and House Surgeon at St. Bartholomew's Hospital. He was subsequently House Physician at Brompton Hospital and Physician at Mount Vernon Hospital. Weber contributed over 1200 medical articles and wrote 23 books over a period of 50 years. In 1922, he, along with his wife, published a philosophical medical tome called ''Aspects of Death and Correlated Aspects of Life in Art, Epigram, and Poetry''. Weber was a prodigious describer of new and unique dermat ...
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Paul Trénaunay
Paul may refer to: People * Paul (given name), a given name, including a list of people * Paul (surname), a list of people * Paul the Apostle, an apostle who wrote many of the books of the New Testament * Ray Hildebrand, half of the singing duo Paul & Paula * Paul Stookey, one-third of the folk music trio Peter, Paul and Mary * Billy Paul, stage name of American soul singer Paul Williams (1934–2016) * Vinnie Paul, drummer for American Metal band Pantera * Paul Avril, pseudonym of Édouard-Henri Avril (1849–1928), French painter and commercial artist * Paul, pen name under which Walter Scott wrote ''Paul's letters to his Kinsfolk'' in 1816 * Jean Paul, pen name of Johann Paul Friedrich Richter (1763–1825), German Romantic writer Places *Paul, Cornwall, a village in the civil parish of Penzance, United Kingdom *Paul (civil parish), Cornwall, United Kingdom *Paul, Alabama, United States, an unincorporated community *Paul, Idaho, United States, a city *Paul, Nebraska, United Sta ...
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Maurice Klippel
Maurice Klippel (30 May 1858 – 20 July 1942) was a French physician, for whom the conditions Klippel–Feil syndrome and Klippel–Trénaunay–Weber syndrome are named. He was born in Mulhouse, Haut-Rhin and studied medicine in Paris, earning his doctorate in 1889. In 1902, he became director of a department of general medicine at the Hôpital Tenon, where he remained until his retirement in 1924. He published articles on a wide array of medical topics, his best known written works being in the fields of neurology and psychiatry. His treatises on cerebral syphilis, tumors and abscesses were published in Brouardel and Gilbert's ''Traité de médecine'' (1901).Maurice Klippel – bibliography
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Compression Garment
Compression garments are pieces of clothing that fit tightly around the skin. In medical contexts, compression garments provide support for people who have to stand for long periods or have poor Circulatory system, circulation. These come in varying degrees of compression, and higher degree compression sleeves, such as sleeves that provide compression of 20–30 mmHg or higher, typically require a doctor's prescription. Compression garments worn on the legs can help prevent deep vein thrombosis and reduce swelling, especially while traveling. Compression can also be used for post surgeries, to help with the healing process. Garment usage varies per patient but can be worn up to a year. There are also second stage compression garments, that are every day wear. In sports, form-fitting compression sportswear, usually made of spandex, is commonly worn by athletes and in exercise to prevent Chafing (skin), chafing and rashes. Maternity wear A bellyband, wrap, or abdominal binder is ...
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Vascular Malformation
A vascular malformation is a type of vascular anomaly. They may cause aesthetic problems as they have a growth cycle, and can continue to grow throughout life. Vascular malformations of the brain include those involving capillaries, and those involving the veins and arteries. Capillary malformations in the brain are known as cerebral cavernous malformations or ''capillary cavernous malformations''. Those involving the mix of vessels are known as cerebral arteriovenous malformations (AVMs or cAVMs). The arteriovenous type is the most common in the brain. Types The International Society for the Study of Vascular Anomalies (ISSVA) classification has 5 types of Vascular Malformation. * denotes high-flow malformation Vascular malformations can also be divided into ''low-flow'' and ''high-flow'' types. Low-flow malformations involve a single type of blood or lymph vessel, and are known as ''simple vascular malformations''; high-flow malformations involve an artery. There are also mal ...
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Sclerotherapy
Sclerotherapy (the word reflects the Greek ''skleros'', meaning ''hard'') is a procedure used to treat blood vessel malformations ( vascular malformations) and also malformations of the lymphatic system. A medication is injected into the vessels, which makes them shrink. It is used for children and young adults with vascular or lymphatic malformations. In adults, sclerotherapy is often used to treat spider veins, smaller varicose veins, hemorrhoids, and hydroceles. Sclerotherapy is one method for the treatment of spider veins, varicose veins (which are also often treated with surgery, radiofrequency, and laser ablation), and venous malformations. In ultrasound-guided sclerotherapy, ultrasound is used to visualize the underlying vein so the physician can deliver and monitor the injection. Sclerotherapy often takes place under ultrasound guidance after venous abnormalities have been diagnosed with duplex ultrasound. Sclerotherapy under ultrasound guidance and using microfoam s ...
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Mayo Clinic
Mayo Clinic () is a Nonprofit organization, private American Academic health science centre, academic Medical centers in the United States, medical center focused on integrated health care, healthcare, Mayo Clinic College of Medicine and Science, education, and research. It maintains three major campuses in Rochester, Minnesota; Jacksonville, Florida; and Phoenix, Arizona, Phoenix/Scottsdale, Arizona. Mayo Clinic employs over 7,300 physicians and scientists, along with another 66,000 administrative and allied health staff. The practice specializes in treating difficult cases through Health care#Tertiary care, tertiary care and Medical tourism#United States, destination medicine. It is home to the top-15 ranked Mayo Clinic Alix School of Medicine in addition to many of the highest regarded residency education programs in the United States. It spends over $660 million a year on research and has more than 3,000 full-time research personnel. William Worrall Mayo settled his family i ...
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Debulking
Debulking is the reduction of as much of the bulk (volume) of a tumour without the intention of a complete eradication. It is usually achieved by surgical removal. When performed for curative intent, it is a different procedure, which is called surgical debulking of tumors is known as cytoreduction or cytoreductive surgery (CRS); "cytoreduction" refers to reducing the number of tumor cells. Debulking is used with curative intent in only some types of cancer, as generally partial removal of a malignant tumor is not a worthwhile intervention for curative purposes (because malignant cells left behind soon multiply and renew the threat). Ovarian cancer and some types of brain tumor are debulked before radiotherapy or chemotherapy begin, making those therapies more effective. It may also be used in the case of slow-growing tumors . In other types of cancer where debulking is not curative, it is sometimes done with palliative intent to relieve mass effect. For example, tumors whose bulk ...
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ICD-10
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. Work on ICD-10 began in 1983, was endorsed by the Forty-third World Health Assembly in 1990, and came into effect in member states on January 1, 1993. ICD-10 was replaced by ICD-11 on January 1, 2022. While WHO manages and publishes the base version of the ICD, several member states have modified it to better suit their needs. In the base classification, the code set allows for more than 14,000 different codes and permits the tracking of many new diagnoses compared to the preceding ICD-9. Through the use of optional sub-classifications, ICD-10 allows for specificity regarding the cause, manifestation, location, severity, and type of injury or disease. The adapted versions may differ ...
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