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Polydactyly In Stem-tetrapods, Had Eight Digits
Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mutations. It may either present alone or with other defects. Cases may run in families. The underlying mechanism involves an error in limb bud formation during early development. Diagnosis may occur before birth via prenatal ultrasound as early as nine weeks. X-rays may be useful after a child is a year old. The opposite is oligodactyly (fewer fingers or toes). Treatment varies from removal by cautery to more involved surgery. While putting a tight band around the base has been carried out, this is not typically recommended. If surgery is required, this is often done around two years of age. Occasionally multiple surgeries are required. Polydactyly is present in about 4 to 12 per 10,000 newborns. It is the most common defect of the hands ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics 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 specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phalanx Bone
The phalanges (: phalanx ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. Structure The phalanges are the bones that make up the fingers of the hand and the toes of the foot. There are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and big toe, which possess only two. The middle and far phalanges of the fifth toes are often fused together (symphalangism). The phalanges of the hand are commonly known as the finger bones. The phalanges of the foot differ from the hand in that they are often shorter and more compressed, especially in the proximal phalanges, those closest to the torso. A phalanx is named according to whether it is proximal, middle, or distal and its associated finger or toe. The proximal phalange ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that disease#Terminology, the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of heredity, inherited syndromes. About one third of all phenotypes that are listed in Online Mendelian Inheritance in Man, OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of sig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zone Of Polarizing Activity
The zone of polarizing activity (ZPA) is an area of mesenchyme that contains signals which instruct the developing limb bud to form along the anterior/posterior axis. Limb bud is undifferentiated mesenchyme enclosed by an ectoderm covering. Eventually, the limb bud develops into bones, tendons, muscles and joints. Limb bud development relies not only on the ZPA, but also many different genes, signals, and a unique region of ectoderm called the apical ectodermal ridge (AER). Research by Saunders and Gasseling in 1948 identified the AER and its subsequent involvement in proximal distal outgrowth. Twenty years later, the same group did transplantation studies in chick limb bud and identified the ZPA. In 1993, Todt and Fallon showed that the AER and ZPA are dependent on each other. Patterning Patterning along the limb bud requires signals from many sources. Specifically, proteins called transcription factors (TF) help control the rate at which a gene is transcribed. The limb bud ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gerd B
Gastroesophageal reflux disease (GERD) or gastro-oesophageal reflux disease (GORD) is a chronic upper gastrointestinal disease in which stomach content persistently and regularly flows up into the esophagus, resulting in symptoms and/or complications. Symptoms include dental corrosion, dysphagia, heartburn, odynophagia, regurgitation, non-cardiac chest pain, extraesophageal symptoms such as chronic cough, hoarseness, reflux-induced laryngitis, or asthma. In the long term, and when not treated, complications such as esophagitis, esophageal stricture, and Barrett's esophagus may arise. Risk factors include obesity, pregnancy, smoking, hiatal hernia, and taking certain medications. Medications that may cause or worsen the disease include benzodiazepines, calcium channel blockers, tricyclic antidepressants, NSAIDs, and certain asthma medicines. Acid reflux is due to poor closure of the lower esophageal sphincter, which is at the junction between the stomach and the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Axel Lange
Axel may refer to: People * Axel (name), all persons with the name Places * Axel, Netherlands, a town ** Capture of Axel, a battle at Axel in 1586 Arts, entertainment, media * ''Axel'', a 1988 short film by Nigel Wingrove * ''Axel'', a Cirque du Soleil show * ''Axël'', an 1890 drama play by Auguste Villiers de l'Isle-Adam * Axel (dance turn), a type of turn performed in dance * Axel lift, a movement in pair skating * Axel jump, a type of jump in figure skating * "Axel F", the 1985 instrumental theme song of ''Beverly Hills Cop'' by Harold Faltermeyer Companies, organizations * Axel Hotels, hotel chain * Axel Springer SE, largest digital publishing house in Europe Other uses * Axel Maersk, Danish container ship * Citroën Axel, automobile made by Citroën * Typhoon Axel (other), multiple storms named Axel * Axel, a character in Pikwik Pack * Axel, a coaxial two-wheeler, designed to investigate caves on the moon with the proposed mission Moon Diver (spacecraft) Se ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Notch Signaling Pathway
The Notch signaling pathway is a highly Conserved sequence, conserved cell signaling system present in most animal, animals. Mammals possess four different Notch proteins, notch receptors, referred to as NOTCH1, NOTCH2, Notch 3, NOTCH3, and NOTCH4. The notch receptor is a single-pass Cell surface receptor, transmembrane receptor protein. It is a hetero-oligomer composed of a large extracellular portion, which associates in a calcium-dependent, non-covalent interaction with a smaller piece of the notch protein composed of a short extracellular region, a single transmembrane-pass, and a small intracellular region. Notch signaling promotes proliferative signaling during neurogenesis, and its activity is inhibited by NUMB (gene), Numb to promote neural differentiation. It plays a major role in the regulation of embryonic development. Notch signaling is dysregulated in many cancers, and faulty notch signaling is implicated in many diseases, including T-cell acute lymphoblastic leuke ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wnt Signaling Pathway
In cellular biology, the Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt, pronounced "wint", is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans. Three Wnt signaling pathways have been characterized: the canonical Wnt pathway, the noncanonical planar cell polarity pathway, and the noncanonical Wnt/calcium pathway. All three pathways are activated by the binding of a Wnt-protein ligand to a Frizzled family receptor, which passes the biological signal to the Dishevelled protein inside the cell. The canonical Wnt pathway leads to regulation of gene transcription, and is thought to be negatively regulated in part ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Synpolydactyly
Synpolydactyly (SPD) is a joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).Goodman FR, Mundlos S, Muragaki Y, et al. Synpolydactyly phenotypes correlate with size of expansions in hoxd13 polyalanine tract. ''Proceedings of the National Academy of Sciences''. 1997;94(14):7458-7463. doi:10.1073/pnas.94.14.7458 SPD affects both hands and feet, often occurring symmetrically on both body sides.Xu W, Graham EM, Shubinets V, Mendenhall SD, Chang B, Lin IC. An evolution of the surgical management of Synpolydactyly. ''Annals of Plastic Surgery''. 2023;90(6S). doi:10.1097/sap.0000000000003513 This is often a result of a mutation in the ''HOXD13'' gene, as ''HOXD'' genes are necessary in early limb bud development and specification of the limbs.Kurban M, Wajid M, Petukhova L, Shimomura Y, Christiano AM. A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. ''Journal of Human Genetics''. 2011;56(10): ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cis-regulatory Element
''Cis''-regulatory elements (CREs) or ''cis''-regulatory modules (CRMs) are regions of non-coding DNA which regulate the transcription of neighboring genes. CREs are vital components of genetic regulatory networks, which in turn control morphogenesis, the development of anatomy, and other aspects of embryonic development, studied in evolutionary developmental biology. CREs are found in the vicinity of the genes that they regulate. CREs typically regulate gene transcription by binding to transcription factors. A single transcription factor may bind to many CREs, and hence control the expression of many genes ( pleiotropy). The Latin prefix ''cis'' means "on this side", i.e. on the same molecule of DNA as the gene(s) to be transcribed. CRMs are stretches of DNA, usually 100–1000 DNA base pairs in length, where a number of transcription factors can bind and regulate expression of nearby genes and regulate their transcription rates. They are labeled as ''cis'' because they are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Shh Ectopic Expression
Shh or Shhh or SHH can refer to: Arts and entertainment Film and television * ''Sh-h-h-h-h-h'', a 1955 American cartoon directed by Tex Avery * "Shh!", a television episode of ''Adventure Time'' * ''Shhh'' (film), a 1975 American comedy film starring Rita Moreno * ''Shhh!'' (film), a 1993 Indian horror film starring Sadhu Kokila * Shh. (2001 film), Australian short animated film directed by Adam Robb * ''Shinbi's Haunted House'', an early title for '' The Haunted House'' Literature * '' Shhhhh! Everybody's Sleeping'', a children's book by Julie Markes * " Sshhh ...", a science fiction short story by David Brin Music Albums * ''Shhh'' (Chumbawamba album), a 1992 album by anarchist punk band Chumbawamba * ''Shhh!'' (Kumbia Kings album), a 2001 album by A.B. Quintanilla and Kumbia Kings * '' Shhh... Don't Tell'', a comedy album by Adam Sandler * '' Shh, Just Go with It'', a 2008 album by Every Avenue * ''Shhh!'', a 2008 EP by Flying Lotus Songs * "Shh" (After School song), 20 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Hand
Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet. It is a substantial rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest. The central ray of the hand is affected and usually appears without proximal deficiencies of nerves, vessels, tendons, muscles and bones in contrast to the radial and ulnar deficiencies. The cleft hand appears as a V-shaped cleft situated in the centre of the hand. The digits at the borders of the cleft might be syndactilyzed, and one or more digits can be absent. In most ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
