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Jarcho-Levin Syndrome
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. Genetics Types include: Diagnosis Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GDF6
Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the ''GDF6'' gene. Function GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins, and control eye development. Growth differentiation factor 6 (GDF6) is a regulatory protein associated with growth and differentiation of developing embryos. GDF6 is encoded by the GDF6 gene. It is a member the transforming growth factor beta superfamily which is a group of proteins involved in early regulation of cell growth and development. GDF6 has been shown to play an important role in the patterning of the epidermis and bone and joint formation. GDF6 induces genes related to the development of the epidermis and can bind directly to noggin, a gene that controls neural development, to block its effect. GDF6 interacts with bone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinicians
A clinician is a health care professional typically employed at a skilled nursing facility or clinic. Clinicians work directly with patients rather than in a laboratory, community health setting or in research. A clinician may diagnose, treat and care for patients as a psychologist, clinical pharmacist, clinical scientist, nurse, occupational therapist, speech-language pathologist, physiotherapist, dentist, optometrist, physician assistant, clinical officer, physician, paramedic, or chaplain. Clinicians undergo and take comprehensive training and exams to be licensed and some complete graduate degrees (master's or doctorates) in their field of expertise. The main function of a clinician is to manage a sick person in order to cure their illness, reduce pain and suffering, and extend life considering the impact of illness upon the patient and their family as well as other social factors. See also * List of healthcare occupations A listing of health care professions by medica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Serrate RNA Effector Molecule Homolog
Serration is a saw-like appearance or a row of sharp or tooth-like projections. A serrated cutting edge has many small points of contact with the material being cut. By having less contact area than a smooth blade or other edge, the applied pressure at each point of contact is greater, and the points of contact are at a sharper angle to the material being cut. This causes a cutting action that involves many small splits in the surface of the material being cut, which cumulatively serve to cut the material along the line of the blade. Serration in nature In nature, serration is commonly seen in the cutting edge on the teeth of some species, usually sharks. However, it also appears on non-cutting surfaces, for example, in botany where a toothed leaf margin or other plant part, such as the edge of a carnation petal, is described as being serrated. A serrated leaf edge may reduce the force of wind and other natural elements. Probably the largest serrations on Earth occur on the s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spondylocostal Dysostosis
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938. Genetics Types include: Diagnosis Subtypes and characteristics In 1968, Dr. David Rimoin and colleagues in Baltimore first distinguished between the two major presentations of Jarcho-Levin. Both conditions were characterized as failures of proper vertebral segmentation. However, the condition within the family descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pulmonary Hypertension
Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the pulmonary artery, arteries of the lungs. Symptoms include dypsnea, shortness of breath, Syncope (medicine), fainting, tiredness, chest pain, pedal edema, swelling of the legs, and a fast heartbeat. The condition may make it difficult to exercise. Onset is typically gradual. According to the definition at the 6th World Symposium of Pulmonary Hypertension in 2018, a patient is deemed to have pulmonary hypertension if the pulmonary mean arterial pressure is greater than 20mmHg at rest, revised down from a purely arbitrary 25mmHg, and pulmonary vascular resistance (PVR) greater than 3 Wood units. The cause is often unknown. Risk factors include a family history, prior pulmonary embolism (blood clots in the lungs), HIV/AIDS, sickle cell disease, cocaine use, chronic obstructive pulmonary disease, sleep apnea, living at high altitudes, and problems with the mitral valve. The underlying mechanism typ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Inheritance
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Baltimore
Baltimore is the most populous city in the U.S. state of Maryland. With a population of 585,708 at the 2020 census and estimated at 568,271 in 2024, it is the 30th-most populous U.S. city. The Baltimore metropolitan area is the 20th-largest metropolitan area in the country at 2.84 million residents. The city is also part of the Washington–Baltimore combined statistical area, which had a population of 9.97 million in 2020. Baltimore was designated as an independent city by the Constitution of Maryland in 1851. Though not located under the jurisdiction of any county in the state, it forms part of the central Maryland region together with the surrounding county that shares its name. The land that is present-day Baltimore was used as hunting ground by Paleo-Indians. In the early 1600s, the Susquehannock began to hunt there. People from the Province of Maryland established the Port of Baltimore in 1706 to support the tobacco trade with Europe and established the Town ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
David Rimoin
David Lawrence Rimoin (November 9, 1936 – May 27, 2012) was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.Thomas H. Maugh, II"Dr. David L. Rimoin dies at 75; Cedars-Sinai geneticist" ''Los Angeles Times'', May 30, 2012. Biography Rimoin was born in Montreal, the son of Fay (Lecker) and Michael Rimoin. Rimoin attended college and medical school at McGill University, where he received his bachelor's degree in 1957, followed by a medical degree and a Master of Science in genetics in 1961. He followed with internships and residencies at Royal Victoria Hospital in Montreal and at Johns Hopkins Hospital in Baltimore, where he studied under genetics pioneer Victor A. McKusickBetty M. Adelson, ''Dwarfism: Medical And Psychosocial Aspects Of Profound Short Stature'' (JHU Press, 2005), , pp. 51-52Excerpts availableat Google Books. and received a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
