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Multicentric Carpotarsal Osteolysis Syndrome
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant condition.Shurtleff DB, Sparkes RS, Clawson DK, Guntheroth WG, Mottet NK (1964) Hereditary osteolysis with hypertension and nephropathy. JAMA 188:363–368 This condition is also known as idiopathic multicentric osteolysis with nephropathy. It is characterised by carpal- tarsal destruction and kidney failure. Signs and symptoms The presentation is of gradual loss of the small bones in the carpus and tarsus. This may lead to joint subluxation and instability. The kidney failure, when present, usually presents as the presence of protein in the urine. In some cases, there may also be craniofacial abnormalities including * Triangular facies * Micrognathia * Maxillary hypoplasia * Exophthalmos Histology of renal biopsies show glomerulosclerosis and severe tubulointerstitial fibrosis. Intellectual disability may occur. Genetics This condition is caused by mutations in the transcription factor MafB, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
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 incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MAFB (gene)
Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in humans is encoded by the ''MAFB'' gene. This gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb. Function MafB is a basic leucine zipper ( bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Clinical significance Mutations in the murine Mafb gene are responsible for the mutant mouse Kreisler (kr) that presents an abnormal segmentation of the hindbrain and exhibit hyperactive behavior, including head tossing and running in circles. This mice dies at birth due to renal failure whereas the Mafb -/- mice dies of central apnea. Recently, single-nucleotide polymorphisms (SNPs) near MAFB have been found associated with nonsyndromic cleft lip and palate. The GEN ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunosuppressant Drugs
Immunosuppressive drugs, also known as immunosuppressive agents, immunosuppressants and antirejection medications, are drugs that inhibit or prevent activity of the immune system. Classification Immunosuppressive drugs can be classified into five groups: * glucocorticoids * cytostatics * antibodies * drugs acting on immunophilins * other drugs Glucocorticoids In pharmacologic (supraphysiologic) doses, glucocorticoids, such as prednisone, dexamethasone, and hydrocortisone are used to suppress various allergic, inflammatory, and autoimmune disorders. They are also administered as posttransplantory immunosuppressants to prevent the acute transplant rejection and graft-versus-host disease. Nevertheless, they do not prevent an infection and also inhibit later reparative processes. Immunosuppressive mechanism Glucocorticoids suppress cell-mediated immunity. They act by inhibiting genes that code for the cytokines Interleukin 1 (IL-1), IL-2, IL-3, IL-4, IL-5, IL-6, I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Steroid
A steroid is a biologically active organic compound with four rings arranged in a specific molecular configuration. Steroids have two principal biological functions: as important components of cell membranes that alter membrane fluidity; and as signaling molecules. Hundreds of steroids are found in plants, animals and fungi. All steroids are manufactured in cells from the sterols lanosterol ( opisthokonts) or cycloartenol (plants). Lanosterol and cycloartenol are derived from the cyclization of the triterpene squalene. The steroid core structure is typically composed of seventeen carbon atoms, bonded in four " fused" rings: three six-member cyclohexane rings (rings A, B and C in the first illustration) and one five-member cyclopentane ring (the D ring). Steroids vary by the functional groups attached to this four-ring core and by the oxidation state of the rings. Sterols are forms of steroids with a hydroxy group at position three and a skeleton derived from cholesta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclosporine A
Ciclosporin, also spelled cyclosporine and cyclosporin, is a calcineurin inhibitor, used as an immunosuppressant medication. It is a natural product. It is taken orally or intravenously for rheumatoid arthritis, psoriasis, Crohn's disease, nephrotic syndrome, and in organ transplants to prevent rejection. It is also used as eye drops for keratoconjunctivitis sicca (dry eyes). Common side effects include high blood pressure, headache, kidney problems, increased hair growth, and vomiting. Other severe side effects include an increased risk of infection, liver problems, and an increased risk of lymphoma. Blood levels of the medication should be checked to decrease the risk of side effects. Use during pregnancy may result in preterm birth; however, ciclosporin does not appear to cause birth defects. Ciclosporin is believed to work by decreasing the function of lymphocytes. It does this by forming a complex with cyclophilin to block the phosphatase activity of calcineuri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Denosumab
Denosumab (trade names Prolia and Xgeva) is a human monoclonal antibody for the treatment of osteoporosis, treatment-induced bone loss, metastases to bone, and giant cell tumor of bone. Denosumab is contraindicated in people with low blood calcium levels. The most common side effects are joint and muscle pain in the arms or legs. Denosumab is a inhibitor of RANKL (receptor activator of nuclear factor kappa-Β ligand), which works by preventing the development of osteoclasts, which are cells that break down bone. It was developed by the biotechnology company Amgen. Medical uses Denosumab is used for those with osteoporosis at high risk for fractures, bone loss due to certain medications, and in those with bone metastases. Cancer A 2012 meta-analysis found that denosumab was better than placebo, zoledronic acid and pamidronate, in reducing the risk of fractures in those with cancer. Osteoporosis In those with postmenopausal osteoporosis denosumab decreases the risk of fract ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bisphosphonate
Bisphosphonates are a class of drugs that prevent the loss of bone density, used to treat osteoporosis and similar diseases. They are the most commonly prescribed drugs used to treat osteoporosis. They are called bisphosphonates because they have two phosphonate () groups. They are thus also called diphosphonates ('' bis-'' or '' di-'' + '' phosphonate''). Evidence shows that they reduce the risk of fracture in post-menopausal women with osteoporosis. Bone tissue undergoes constant remodeling and is kept in balance (homeostasis) by osteoblasts creating bone and osteoclasts destroying bone. Bisphosphonates inhibit the digestion of bone by encouraging osteoclasts to undergo apoptosis, or cell death, thereby slowing bone loss. The uses of bisphosphonates include the prevention and treatment of osteoporosis, Paget's disease of bone, bone metastasis (with or without hypercalcemia), multiple myeloma, primary hyperparathyroidism, osteogenesis imperfecta, fibrous dysplasia, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Winchester Syndrome
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA). However, it was discovered that the two are caused by mutations found in different genes; however they mostly produce the same phenotype or clinical picture. Appearances resemble rheumatoid arthritis. Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis. Winchester syndrome is thought to be inherited as an autosomal recessive trait. Sympto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Juvenile Rheumatoid Arthritis
Juvenile may refer to: *Juvenile status, or minor (law), prior to adulthood *Juvenile (organism) * Juvenile (rapper) (born 1975), American rapper * ''Juvenile'' (2000 film), Japanese film * ''Juvenile'' (2017 film) *Juvenile (greyhounds), a greyhound competition *Juvenile particles, a type of volcanic ejecta *A two-year-old horse in horse racing terminology See also *" The Juvenile", a song by Ace of Base * Juvenile novel **Any of "Heinlein juveniles" *Juvenile delinquency *Juvenilia Juvenilia are literary, musical or artistic works produced by authors during their youth. Written juvenilia, if published at all, usually appears as a retrospective publication, some time after the author has become well known for later works. ..., works by an author while a youth * Juvenal (other) {{Disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 20
Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs. Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 66 million base pairs. Genes Number of genes The following are some of the gene count estimates of human chromosome 20. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization ( body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are up to 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (as an activator), or blocking (as a repressor) the recruitment of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
