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GestaltMatcher
GestaltMatcher is a continuously updated collection of medical images of individuals with rare diseases and open-source AIs for the interpretation of such data. As of March 2023, GestaltMatcher DataBase (GMDB) contained approximately 10,000 case reports with a molecular diagnosis and clinical features annotated with HPO terminology. Medical images include, for example, facial photographs of patients with genetic syndromes manifesting with facial dysmorphic features, as well as radiographs from those with skeletal dysplasias. GestaltMatcher allows users to find and publish case reports, including medical images, if that option is chosen in the dynamic consent module. By that means, GMDB complements medRxiv and can also be used as a repository for re-identifiable images in preprints. In a prospective three year multi center study, GestaltMatcher showed clinical utility as an artificial expert opinion in a multidisciplinary team. History The GestaltMatcher project started in Ap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphic Features
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an im ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ICHG
The International Congress of Human Genetics is the foremost meeting of the international human genetics community. The first Congress was held in 1956 in Copenhagen, and has met every five years since then with the exception of the 2021 meeting which was postponed for two years because of the global COVID-19 pandemic. The Congress is held under the auspices of the International Federation of Human Genetics Societiean umbrella organization founded by the American Society of Human Genetics, the European Society of Human Genetics and the Human Genetics Society of Australasia. Congresses have been held in such diverse venues as Berlin, Brisbane, Chicago, The Hague, Jerusalem, Mexico City, Paris, Rio de Janeiro, Vienna and Washington. The purview of the International Congress of Human Genetics is all aspects of human genetics, including research, clinical practice, and education. The Congress now attracts thousands of participants, including M.D. A Doctor of Medicine (abbreviated MD, f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diagnosis Codes
In health care, diagnosis codes are used as a tool to group and identify diseases, disorders, symptoms, poisonings, adverse effects of drugs and chemicals, injuries and other reasons for patient encounters. Diagnostic coding is the translation of written descriptions of diseases, illnesses and injuries into codes from a particular classification. In medical classification, diagnosis codes are used as part of the clinical coding process alongside intervention codes. Both diagnosis and intervention codes are assigned by a health professional trained in medical classification such as a clinical coder or Health Information Manager. Several diagnosis classification systems have been implemented to various degrees of success across the world. The various classifications have a focus towards a particular patient encounter type such as emergency, inpatient, outpatient, mental health as well as surgical care. The International Statistical Classification of Diseases and Related Health Proble ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eva Köhler
Eva Luise Köhler (; Bohnet; born 2 January 1947) is the widow of former German president Horst Köhler and as such, was sometimes referred to by the media as the " First Lady" during her husband's presidency. Education and career She completed her ''Abitur'' in Ludwigsburg in 1966, and studied history, Germanistics and religion. She then became a teacher of German. Eva Köhler was a member of the Social Democratic Party (SPD) from 1972 to 1990 as she advocated Willy Brandt's Ostpolitik and participated in local politics. She left the SPD because she disliked the politics of Oskar Lafontaine. Personal life Eva and Horst Köhler have two children, Ulrike (born 1972) and Jochen (born 1977). Her husband died on 1 February 2025. Honours Foreign honours * : Knight Grand Cross of the Order of Merit of the Italian Republic (21 March 2006) * : Grand Cross of the Order of Vytautas the Great (19 October 2005) * : Grand Cross of the Order of Prince Henry The Order of Prince Hen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Horst Köhler
Horst Köhler (; 22 February 1943 – 1 February 2025) was a German politician who served as President of Germany from 2004 to 2010. As the candidate of the two Christian Democratic sister parties, the Christian Democratic Union of Germany, CDU (of which he was a member) and the Christian Social Union of Bavaria, CSU, as well as the liberal Free Democratic Party (Germany), FDP, Köhler was 2004 German presidential election, elected to his first five-year term by the Federal Convention (Germany), Federal Convention on 23 May 2004 and was subsequently inaugurated on 1 July 2004. He was 2009 German presidential election, reelected to a second term on 23 May 2009. Just a year later, on 31 May 2010, he resigned from his office in a controversy over a comment on the role of the Bundeswehr, German Armed Forces in light of a visit to the troops in Afghanistan. During his tenure as president, whose office is mostly concerned with ceremonial matters, Köhler was a highly popular politician, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperphosphatasia With Mental Retardation Syndrome
Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face. Signs and symptoms Pathogenesis While many cases of HPMRS are caused by mutations in the '' PIGV'' gene, there may be genetic heterogeneity in the spectrum of Mabry syndrome as a whole. PIGV is a member of the molecular pathway that synthesizes the glycosylphosphatidylinositol anchor. The loss in PIGV activity results in a reduced anchoring of alkaline phosphatase to the surface membrane and an elevated alkaline phosphatase activity in the serum. Diagnosis The clinical diagnosis can be established if the patient ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
South Africa
South Africa, officially the Republic of South Africa (RSA), is the Southern Africa, southernmost country in Africa. Its Provinces of South Africa, nine provinces are bounded to the south by of coastline that stretches along the Atlantic Ocean, South Atlantic and Indian Ocean; to the north by the neighbouring countries of Namibia, Botswana, and Zimbabwe; to the east and northeast by Mozambique and Eswatini; and it encloses Lesotho. Covering an area of , the country has Demographics of South Africa, a population of over 64 million people. Pretoria is the administrative capital, while Cape Town, as the seat of Parliament of South Africa, Parliament, is the legislative capital, and Bloemfontein is regarded as the judicial capital. The largest, most populous city is Johannesburg, followed by Cape Town and Durban. Cradle of Humankind, Archaeological findings suggest that various hominid species existed in South Africa about 2.5 million years ago, and modern humans inhabited the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cape Town
Cape Town is the legislature, legislative capital city, capital of South Africa. It is the country's oldest city and the seat of the Parliament of South Africa. Cape Town is the country's List of municipalities in South Africa, second-largest city by population, after Johannesburg, and the largest city in the Western Cape. The city is part of the City of Cape Town metropolitan municipality (South Africa), metropolitan municipality. The city is known for Port of Cape Town, its harbour, its natural setting in the Cape Floristic Region, and for landmarks such as Table Mountain and Cape Point. In 2014, Cape Town was named the best place in the world to visit by ''The New York Times'', and was similarly ranked number one by ''The Daily Telegraph'' in both 2016 and 2023. Located on the shore of Table Bay, the City Bowl area of Cape Town, which contains its Cape Town CBD, central business district (CBD), is History of Cape Town, the oldest urban area in the Western Cape, with a signi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nature Genetics
''Nature Genetics'' is a peer-reviewed scientific journal published by Nature Portfolio. It was established in 1992. It covers research in genetics. The chief editor is Tiago Faial. The journal encompasses genetic and functional genomic studies on human traits and on other model organisms, including mouse, fly, nematode and yeast. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. According to the ''Journal Citation Reports'', the journal has a 2023 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 31.7, ranking it 2nd out of 175 journals in the category "Genetics & Heredity". Further evaluation metrics from Scopus and Journal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FAIR Data
FAIR data is data which meets the FAIR principles of findability, accessibility, interoperability, and reusability (FAIR). The acronym and principles were defined in a March 2016 paper in the journal '' Scientific Data'' by a consortium of scientists and organizations. The FAIR principles emphasize machine-actionability (i.e., the capacity of computational systems to find, access, interoperate, and reuse data with none or minimal human intervention) because humans increasingly rely on computational support to deal with data as a result of the increase in the volume, complexity, and rate of production of data. Material was copied from this source, which is available under Creative Commons Attribution 4.0 International License The abbreviation is sometimes used to indicate that the dataset or database in question complies with the FAIR principles and also carries an explicit data‑capable open license. FAIR principles published by GO FAIR Acceptance and implementation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
