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Camptodactyly-arthropathy-coxa Vara-pericarditis Syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic medical condition due to a mutation in the gene proteoglycan 4 (PRG4) – a mucin-type glycoprotein that acts as a lubricant for the cartilage surfaces. This gene is also known as lubricin. Presentation This condition was first described in 1986.Bulutlar G, Yazici H, Ozdogan H, Schreuder I (1986) A familial syndrome of pericarditis, arthritis, camptodactyly and coxa vara. Arthritis Rheum 29:436–438 and is a syndrome of camptodactyly, arthropathy, coxa vara, and pericarditis.Offiah AC, Woo P, Prieur AM, Hasson N, Hall CM (2005) Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. AJR Am J Roentgenol 185(2):522-529 It may also include congenital cataracts.Akawi NA, Ali BR, Al-Gazali L (2012) A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to inclu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
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] |
Articular Cartilage
Hyaline cartilage is the glass-like (hyaline) and translucent cartilage found on many joint surfaces. It is also most commonly found in the ribs, nose, larynx, and trachea. Hyaline cartilage is pearl-gray in color, with a firm consistency and has a considerable amount of collagen. It contains no nerves or blood vessels, and its structure is relatively simple. Structure Hyaline cartilage is covered externally by a fibrous membrane known as the perichondrium or, when it's along articulating surfaces, the synovial membrane. This membrane contains vessels that provide the cartilage with nutrition through diffusion. Hyaline cartilage matrix is primarily made of type II collagen and chondroitin sulphate, both of which are also found in elastic cartilage. Hyaline cartilage exists on the sternal ends of the ribs, in the larynx, trachea, and bronchi, and on the articulating surfaces of bones. It gives the structures a definite but pliable form. The presence of collagen fibres makes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phalanges
The phalanges (singular: ''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 large 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metacarpal
In human anatomy, the metacarpal bones or metacarpus form the intermediate part of the skeletal hand located between the phalanges of the fingers and the carpal bones of the wrist, which forms the connection to the forearm. The metacarpal bones are analogous to the metatarsal bones in the foot. Structure The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal is somewhat more mobile while the fifth metacarpal is semi-independent.Tubiana ''et al'' 1998, p 11 Each metacarpal bone consists of a bod ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopenia
Osteopenia, known as "low bone mass" or "low bone density", is a condition in which bone mineral density is low. Because their bones are weaker, people with osteopenia may have a higher risk of fractures, and some people may go on to develop osteoporosis. In 2010, 43 million older adults in the US had osteopenia. Unlike osteoporosis, osteopenia does not usually cause symptoms, and losing bone density in itself does not cause pain. There is no single cause for osteopenia, although there are several risk factors, including modifiable (behavioral, including dietary and use of certain drugs) and non-modifiable (for instance, loss of bone mass with age). For people with risk factors, screening via a DXA scanner may help to detect the development and progression of low bone density. Prevention of low bone density may begin early in life and includes a healthy diet and weight-bearing exercise, as well as avoidance of tobacco and alcohol. The treatment of osteopenia is controversial: non-p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Synovium
The synovial membrane (also known as the synovial stratum, synovium or stratum synoviale) is a specialized connective tissue that lines the inner surface of capsules of synovial joints and tendon sheath. It makes direct contact with the fibrous membrane on the outside surface and with the synovial fluid lubricant on the inside surface. In contact with the synovial fluid at the tissue surface are many rounded macrophage-like synovial cells (type A) and also type B cells, which are also known as fibroblast-like synoviocytes (FLS). Type A cells maintain the synovial fluid by removing wear-and-tear debris. As for the FLS, they produce hyaluronan, as well as other extracellular components in the synovial fluid. Structure The synovial membrane is variable but often has two layers: * The outer layer, or subintima, can be of almost any type of connective tissue – fibrous (dense collagenous type), adipose (fatty; e.g. in intra-articular fat pads) or areolar (loose collagenous type ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C Reactive Protein
C-reactive protein (CRP) is an annular (ring-shaped) pentameric protein found in blood plasma, whose circulating concentrations rise in response to inflammation. It is an acute-phase protein of hepatic origin that increases following interleukin-6 secretion by macrophages and T cells. Its physiological role is to bind to lysophosphatidylcholine expressed on the surface of dead or dying cells (and some types of bacteria) in order to activate the complement system via C1q. CRP is synthesized by the liver in response to factors released by macrophages and fat cells (adipocytes). It is a member of the pentraxin family of proteins. It is not related to C-peptide (insulin) or protein C (blood coagulation). C-reactive protein was the first pattern recognition receptor (PRR) to be identified. History Discovered by Tillett and Francis in 1930, it was initially thought that CRP might be a pathogenic secretion since it was elevated in a variety of illnesses, including cancer. The later di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erythrocyte Sedimentation Rate
The erythrocyte sedimentation rate (ESR or sed rate) is the rate at which red blood cells in anticoagulated whole blood descend in a standardized tube over a period of one hour. It is a common hematology test, and is a non-specific measure of inflammation. To perform the test, anticoagulated blood is traditionally placed in an upright tube, known as a Westergren tube, and the distance which the red blood cells fall is measured and reported in millimetre at the end of one hour. Since the introduction of automated analyzers into the clinical laboratory, the ESR test has been automatically performed. The ESR is governed by the balance between pro-sedimentation factors, mainly fibrinogen, and those factors resisting sedimentation, namely the negative charge of the erythrocytes (zeta potential). When an inflammatory process is present, the high proportion of fibrinogen in the blood causes red blood cells to stick to each other. The red cells form stacks called ''rouleaux'' which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemopexin
Hemopexin (or haemopexin; Hpx; Hx), also known as beta-1B-glycoprotein, is a glycoprotein that in humans is encoded by the ''HPX'' gene and belongs to the hemopexin family of proteins. Hemopexin is the plasma protein with the highest binding affinity for heme. Hemoglobin ''itself'' circulating ''alone'' in the blood plasma (called ''free hemoglobin'', as opposed to the hemoglobin situated in and circulating with the red blood cell.) will soon be oxidized into met-hemoglobin which then further disassociates into ''free'' heme along with globin chain. The free heme will then be oxidized into free met-heme and sooner or later the hemopexin will come to bind free met-heme together, forming a complex of met-heme and hemopexin, continuing their journey in the circulation until reaching a receptor, such as CD91, on hepatocytes or macrophages within the spleen, liver and bone marrow. Hemopexin's arrival and subsequent binding to the free heme not only prevent heme's pro-oxidant and pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heparin
Heparin, also known as unfractionated heparin (UFH), is a medication and naturally occurring glycosaminoglycan. Since heparins depend on the activity of antithrombin, they are considered anticoagulants. Specifically it is also used in the treatment of heart attacks and unstable angina. It is given intravenously or by injection under the skin. Other uses for its anticoagulant properties include inside blood specimen test tubes and kidney dialysis machines. Common side effects include bleeding, pain at the injection site, and low blood platelets. Serious side effects include heparin-induced thrombocytopenia. Greater care is needed in those with poor kidney function. Heparin is contraindicated for suspected cases of vaccine-induced pro-thrombotic immune thrombocytopenia (VIPIT) secondary to SARS-CoV-2 vaccination, as heparin may further increase the risk of bleeding in an anti-PF4/heparin complex autoimmune manner, in favor of alternative anticoagulant medications (such as arg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vitronectin
Vitronectin (VTN or VN) is a glycoprotein of the hemopexin family which is abundantly found in serum, the extracellular matrix and bone. In humans it is encoded by the ''VTN'' gene. Vitronectin binds to integrin alpha-V beta-3 and thus promotes cell adhesion and spreading. It also inhibits the membrane-damaging effect of the terminal cytolytic complement pathway and binds to several serpins (serine protease inhibitors). It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. Vitronectin has been speculated to be involved in hemostasis and tumor malignancy. Structure Vitronectin is a 54 kDa glycoprotein, consisting of 478 amino acid residues. About one-third of the protein's molecular mass is composed of carbohydrates. On occasion, the protein is cleaved after arginine 379, to produce two-chain vitronectin, where the two parts are linked by a disulfide bond. No high-resolution structure has been determine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chondrocyte
Chondrocytes (, from Greek χόνδρος, ''chondros'' = cartilage + κύτος, ''kytos'' = cell) are the only cells found in healthy cartilage. They produce and maintain the cartilaginous matrix, which consists mainly of collagen and proteoglycans. Although the word ''chondroblast'' is commonly used to describe an immature chondrocyte, the term is imprecise, since the progenitor of chondrocytes (which are mesenchymal stem cells) can differentiate into various cell types, including osteoblasts. Development From least- to terminally-differentiated, the chondrocytic lineage is: # Colony-forming unit-fibroblast # Mesenchymal stem cell / marrow stromal cell # Chondrocyte # Hypertrophic chondrocyte Mesenchymal (mesoderm origin) stem cells are undifferentiated, meaning they can differentiate into a variety of generative cells commonly known as osteochondrogenic (or osteogenic, chondrogenic, osteoprogenitor, etc.) cells. When referring to bone, or in this case cartilage, the origin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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