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Currarino Syndrome
Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum. It occurs in approximately 1 in 100,000 people. Anterior sacral meningocele is the most common presacral mass in patients with Currarino syndrome, occurring in 60% of cases. Its presence may significantly affect the surgical management of these patients. Other potential presacral masses include presacral teratoma and enteric cyst. Presacral teratoma usually is considered to be a variant of sacrococcygeal teratoma. However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind. Genetics The disorder is an autosomal dominant genetic trait caused by a mutation in the HLXB9 homeobox gene. In 2000 the first large series of Currarino cases was genetically screened for HLXB9 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or 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 and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HLXB9
Motor neuron and pancreas homeobox 1 (MNX1), also known as Homeobox HB9 (HLXB9), is a human protein encoded by the ''MNX1'' gene. Clinical significance Mutations in the ''MNX1'' gene are associated with Currarino syndrome Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformatio .... Upregulated expression of MNX1-AS1 long noncoding RNA predicts poor prognosis in gastric cancer. Zhang, W., Huang, L., Lu, X., Wang, K., Ning, X., & Liu, Z. (2019). Upregulated expression of MNX1-AS1 long noncoding RNA predicts poor prognosis in gastric cancer. Bosnian journal of basic medical sciences, 19(2), 164–171. https://doi.org/10.17305/bjbms.2019.3713 References Further reading * * * * * * * * * * * * * * * * External links * Transcription factors {{gene-7-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders Of Nervous System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or 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 and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Imperforate Anus
An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene ''HLXB9'' has been identified. Types There are other forms of anorectal malformations though imperforate anus is most common. Other variants include anterior ectopic anus. This form is more commonly seen in females and presents with constipation. Presentation There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula. The classical Wingspread classification was in low and high anomalies: * A lo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meningocele
Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases it may be in the middle back or neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy. Learning problems are relat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myelomeningocele
Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases it may be in the middle back or neck. Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy. Learning problems are relat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Journal Of Human Genetics
The ''American Journal of Human Genetics'' is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, including the application of genetics in medicine and public policy, as well as the related areas of molecular and cell biology. According to the ''Journal Citation Reports'', the journal has a 2019 impact factor of 10.502. The journal is published by Cell Press an imprint of Elsevier. Bruce R. Korf became the editor-in-chief in the winter of 2017–2018. Past editors-in-chief * 1948–1951 — Charles W. Cotterham * 1952–1954 — Herluf H. Strandskov (1898–1984) * 1955— Laurence H. Snyder * 1956–1961 — Arthur G. Steinberg * 1962–1963 — C. Nash Herndon * 1964–1969 — H. Eldon Sutton * 1970–1975 — Arno Motulsky * 1976–1978 — William J. Mellman * 1979–1986 — David E. Comings * 1986–1993 — Charles J. Epstein * 1993†... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sacral Agenesis
Sacral may refer to: *Sacred Sacred describes something that is dedicated or set apart for the service or worship of a deity; is considered worthy of spiritual respect or devotion; or inspires awe or reverence among believers. The property is often ascribed to objects ( ..., associated with divinity and considered worthy of spiritual respect or devotion *Of the sacrum, a large, triangular bone at the base of the spine See also * {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sacrum
The sacrum (plural: ''sacra'' or ''sacrums''), in human anatomy, is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1S5) between ages 18 and 30. The sacrum situates at the upper, back part of the pelvic cavity, between the two wings of the pelvis. It forms joints with four other bones. The two projections at the sides of the sacrum are called the alae (wings), and articulate with the ilium at the L-shaped sacroiliac joints. The upper part of the sacrum connects with the last lumbar vertebra (L5), and its lower part with the coccyx (tailbone) via the sacral and coccygeal cornua. The sacrum has three different surfaces which are shaped to accommodate surrounding pelvic structures. Overall it is concave (curved upon itself). The base of the sacrum, the broadest and uppermost part, is tilted forward as the sacral promontory internally. The central part is curved outward toward the posterior, allowing greater room for the pel ... [...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 allosome, 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 human genome, 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 of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
