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Young–Madders Syndrome
Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and intellectual disability, with a significant variance in the severity of symptoms being seen across known cases. Many cases often suffer with several other genetic disorders, and some have presented with hypoplasia, cleft lip, cardiac lesions and other heart defects. In one case in 1991 and another in 2000 the condition was found in siblings who were the product of incest. Many cases are diagnosed prenatally and often in siblings. Cases are almost fatal in the prenatal stage with babies being stillborn. Though it is now thought that earlier cases were misdiagnosed as other genetic disorders with similar pathology—such as Smith–Lemli–Opitz syndrome—the earliest publicised recognition of the condition as a new, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gross Pathology
Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy An autopsy (post-mortem examination, obduction, necropsy, or autopsia cadaverum) is a surgical procedure that consists of a thorough examination of a corpse by dissection to determine the cause, mode, and manner of death or to evaluate any di .... It is vital to systematically explain the gross appearance of a pathological state, for example, a malignant tumor, noting the site, size, shape, consistency, presence of a capsule and appearance on cut section whether well circumscribed or diffusely infiltrating, homogeneous or variegated, cystic, necrotic, hemorrhagic areas, as well as papillary projections. {{pathology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FBXW11
βTrCP2 (beta-transducin repeat containing protein 2; also known as Fbxw11 or HOS) is a protein that in humans is encoded by the ''FBXW11'' (F-box and WD repeat domain containing 11) gene. This gene encodes a member of the F-box protein family which is characterized by an approximately 40 residue structural motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs ( Skp1-Cul1-F-box protein), which often, but not always, recognize substrates in a phosphorylation-dependent manner. F-box proteins are divided into 3 classes: * Fbxws containing WD40 repeats, * Fbxls containing leucine-rich repeats, * and Fbxos containing either "other" protein-protein interaction modules or no recognizable motifs. The protein encoded by FBXW11 belongs to the Fbxw class as, in addition to an F-box, this protein contains multiple WD40 repeats. This protein is homologous to Xenopus βTrCP, yeast Met30, Neurospora Scon2 and Drosophila Slim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meckel Syndrome
Meckel may refer to: People German anatomist/physician family Meckel * Johann Friedrich Meckel, the Younger (1781–1833), German anatomist * Johann Friedrich Meckel, the Elder (1724–1774) German anatomist, grandfather of the Younger * Philipp Friedrich Theodor Meckel (1755–1803) German anatomist, father of Johann Friedrich the Younger * August Albrecht Meckel (1789–1829) German physician. brother of Johann Friedrich the Younger * Johann Heinrich Meckel (1821–1856) German anatomist, son of Johann Friedrich the Younger Others * Christoph Meckel (1935–2020) German author and graphic artist * Jakob Meckel (1842–1905) Prussian general * Markus Meckel (born 1952) German theologian and politician * Miriam Meckel Miriam Meckel (born 18 July 1967) is a German journalist and professor for Corporate Communication, editor and publisher of the German magazine ''Wirtschaftswoche'' and Director of the Institute for Media and Communication Management at the Univ ... (bo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tricuspid Valve
The tricuspid valve, or right atrioventricular valve, is on the right dorsal side of the mammalian heart, at the superior portion of the right ventricle. The function of the valve is to allow blood to flow from the right atrium to the right ventricle during diastole, and to close to prevent backflow ( regurgitation) from the right ventricle into the right atrium during right ventricular contraction ( systole). Structure The tricuspid valve usually has three cusps or leaflets, named the anterior, posterior, and septal cusps. Each leaflet is connected via chordae tendineae to the anterior, posterior, and septal papillary muscles of the right ventricle, respectively. Tricuspid valves may also occur with two or four leaflets; the number may change over a lifetime. Function The tricuspid valve functions as a one-way valve that closes during ventricular systole to prevent regurgitation of blood from the right ventricle back into the right atrium. It opens during ventricular diastol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stillbirth
Stillbirth is typically defined as fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without signs of life. A stillbirth can result in the feeling of guilt or grief in the mother. The term is in contrast to miscarriage, which is an early pregnancy loss, and Sudden Infant Death Syndrome, where the baby dies a short time after being born alive. Often the cause is unknown. Causes may include pregnancy complications such as pre-eclampsia and birth complications, problems with the placenta or umbilical cord, birth defects, infections such as malaria and syphilis, and poor health in the mother. Risk factors include a mother's age over 35, smoking, drug use, use of assisted reproductive technology, and first pregnancy. Stillbirth may be suspected when no fetal movement is felt. Confirmation is by ultrasound. Worldwide prevention of most stillbirths is possible with improved health systems. Around half of stillbirths occur durin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leicester Royal Infirmary
The Leicester Royal Infirmary (LRI) is a National Health Service hospital in Leicester, England. It is located to the south-west of the city centre. It has an accident and emergency department and is managed by of the University Hospitals of Leicester NHS Trust. History The hospital was founded by Reverend William Watts as the Leicester Infirmary with 40 beds in 1771. Patients were forced to pay a deposit when they went in; if they went home, the money was repaid; if they died their deposit would be spent on burying them. When first opened, there was no running water, but it did have its own brewery, beer from which was used to treat the patients. By 1808, the infirmary had expanded by 20 beds, to a total of 60 beds. A fever house opened at the infirmary in 1820 and nurses were first trained there in 1870. St Luke's Chapel, which benefited from extensive stained glass windows and memorials, was built in 1887. The facility became Leicester Infirmary and Children's Hospital i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Medical Genetics
The ''Journal of Medical Genetics'' is a monthly peer-reviewed medical journal covering all aspects of medical genetics, including reviews of and opinion on the latest developments. It was established in 1964 and is published by the BMJ Group. The editor-in-chief is Huw Dorkins (University of Oxford). Abstracting and indexing The journal is abstracted and indexed in the Science Citation Index, BIOSIS Previews, Index Medicus/MEDLINE, Current Contents, Scopus, Embase, and CINAHL. According to the ''Journal Citation Reports'', the journal has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 6.318. References External links * BMJ Group academic journals Monthly journals Publications established in 1964 English-language journals Medical genetics journa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Springer Science+Business Media
Springer Science+Business Media, commonly known as Springer, is a German multinational publishing company of books, e-books and peer-reviewed journals in science, humanities, technical and medical (STM) publishing. Originally founded in 1842 in Berlin, it expanded internationally in the 1960s, and through mergers in the 1990s and a sale to venture capitalists it fused with Wolters Kluwer and eventually became part of Springer Nature in 2015. Springer has major offices in Berlin, Heidelberg, Dordrecht, and New York City. History Julius Springer founded Springer-Verlag in Berlin in 1842 and his son Ferdinand Springer grew it from a small firm of 4 employees into Germany's then second largest academic publisher with 65 staff in 1872.Chronology ". Springer Science+Business Media. In 1964, Springer expanded its business internationally, o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skull
The skull is a bone protective cavity for the brain. The skull is composed of four types of bone i.e., cranial bones, facial bones, ear ossicles and hyoid bone. However two parts are more prominent: the cranium and the mandible. In humans, these two parts are the neurocranium and the viscerocranium ( facial skeleton) that includes the mandible as its largest bone. The skull forms the anterior-most portion of the skeleton and is a product of cephalisation—housing the brain, and several sensory structures such as the eyes, ears, nose, and mouth. In humans these sensory structures are part of the facial skeleton. Functions of the skull include protection of the brain, fixing the distance between the eyes to allow stereoscopic vision, and fixing the position of the ears to enable sound localisation of the direction and distance of sounds. In some animals, such as horned ungulates (mammals with hooves), the skull also has a defensive function by providing the mount (on the front ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Incisor
Incisors (from Latin ''incidere'', "to cut") are the front teeth present in most mammals. They are located in the premaxilla above and on the mandible below. Humans have a total of eight (two on each side, top and bottom). Opossums have 18, whereas armadillos have none. Structure Adult humans normally have eight incisors, two of each type. The types of incisor are: * maxillary central incisor (upper jaw, closest to the center of the lips) * maxillary lateral incisor (upper jaw, beside the maxillary central incisor) * mandibular central incisor (lower jaw, closest to the center of the lips) * mandibular lateral incisor (lower jaw, beside the mandibular central incisor) Children with a full set of deciduous teeth (primary teeth) also have eight incisors, named the same way as in permanent teeth. Young children may have from zero to eight incisors depending on the stage of their tooth eruption and tooth development. Typically, the mandibular central incisors erupt first, followed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anosmia
Anosmia, also known as smell blindness, is the loss of the ability to detect one or more smells. Anosmia may be temporary or permanent. It differs from hyposmia, which is a decreased sensitivity to some or all smells. Anosmia can be due to a number of factors, including an inflammation of the nasal mucosa, blockage of nasal passages or a destruction of one temporal lobe. Inflammation is due to chronic mucosa changes in the lining of the paranasal sinus and in the middle and superior turbinates. When anosmia is caused by inflammatory changes in the nasal passageways, it is treated simply by reducing inflammation. It can be caused by chronic meningitis and neurosyphilis that would increase intracranial pressure over a long period of time, and in some cases by ciliopathy, including ciliopathy due to primary ciliary dyskinesia. The term derives from the New Latin ''anosmia'', based on Ancient Greek ἀν- (''an''-) + ὀσμή (''osmḗ'' 'smell'; another related term, hyperosmia, r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclopia
Cyclopia (named after the Greek mythology character cyclopes) is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in 16,000 in born animals and 1 in 200 in miscarried fetuses. Signs and symptoms Typically, the nose is either missing or not functional. This deformity (called proboscis) forms above the center eye and is characteristic of a form of cyclopia called rhinencephaly or rhinocephaly. Most such embryos are either naturally aborted or are stillborn upon delivery. Although cyclopia is rare, several cyclopic human babies are preserved in medical museums (e.g. The Vrolik Museum, Amsterdam, Trivandrum Medical College). Some extreme cases of cyclopia have been documented in farm animals (horses, sheep, pigs, and sometimes chickens). In such cases, the nose and mouth fail to form, or the nose grows ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
