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Osteosclerotic
Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in bone density. It may predominantly affect the medullary portion and/or cortex of bone. Plain radiographs are a valuable tool for detecting and classifying osteosclerotic disorders. It can manifest in localized or generalized osteosclerosis. Localized osteosclerosis can be caused by Legg–Calvé–Perthes disease, sickle-cell disease and osteoarthritis among others. Osteosclerosis can be classified in accordance with the causative factor into acquired and hereditary. Types Acquired osteosclerosis * Osteogenic bone metastasis caused by carcinoma of prostate and breast * Paget's disease of bone * Myelofibrosis (primary disorder or secondary to intoxication or malignancy) * Osteosclerosing types of chronic osteomyelitis * Hypervitaminosis D * hyperparathyroidism * Schnitzler syndrome * Mastocytosis Skeletal fluorosis * Monoclonal IgM Kappa cryoglobulinemia * Hepatitis C. Here ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopetrosis
Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is an extremely rare Biological inheritance, inherited disease, disorder whereby the bones harden, becoming Density, denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break. It is one of the hereditary causes of osteosclerosis. It is considered to be the prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning osteoclasts and their inability to resorb bone. Although human osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features, all forms share a single pathogenic nexus in the osteoclast. The exact molecular defects or location of the mutations taking place are unknown. Osteopetrosis was first described in 1903, by Ger ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerosis (medicine)
Sclerosis (from Greek σκληρός ''sklērós'', "hard") is the stiffening of a tissue or anatomical feature, usually caused by a replacement of the normal organ-specific tissue with connective tissue. The structure may be said to have undergone sclerotic changes or display sclerotic lesions, which refers to the process of sclerosis. Common medical conditions whose pathology involves sclerosis include: * Amyotrophic lateral sclerosis—also known as Lou Gehrig's disease or motor neurone disease—a progressive, incurable, usually fatal disease of motor neurons. * Atherosclerosis, a deposit of fatty materials, such as cholesterol, in the arteries which causes hardening. * Focal segmental glomerulosclerosis is a disease that attacks the kidney's filtering system (glomeruli) causing serious scarring and thus a cause of nephrotic syndrome in children and adolescents, as well as an important cause of kidney failure in adults. * Hippocampal sclerosis, a brain damage often seen in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryoglobulinemia
Cryoglobulinemia is a medical condition in which the blood contains large amounts of pathological cold sensitive antibodies called cryoglobulins – proteins (mostly immunoglobulins themselves) that become insoluble at reduced temperatures. This should be contrasted with cold agglutinins, which cause agglutination of red blood cells. Cryoglobulins typically precipitate (clumps together) at temperatures below normal body temperatureand will dissolve again if the blood is heated. The precipitated clump can block blood vessels and cause toes and fingers to become gangrenous. While this disease is commonly referred to as cryoglobulinemia in the medical literature, it is better termed cryoglobulinemic disease for two reasons: 1) cryoglobulinemia is also used to indicate the circulation of (usually low levels of) cryoglobulins in the absence of any symptoms or disease and 2) healthy individuals can develop transient asymptomatic cryoglobulinemia following certain infections. In con ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerostin
Sclerostin is a protein that in humans is encoded by the ''SOST'' gene. Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Sclerostin is produced primarily by the osteocyte but is also expressed in other tissues, and has anti-anabolic effects on bone formation. Structure The sclerostin protein, with a length of 213 residues, has a secondary structure that has been determined by protein NMR to be 28% beta sheet (6 strands; 32 residues). Function Sclerostin, the product of the SOST gene, located on chromosome 17q12–q21 in humans, was originally believed to be a non-classical bone morphogenetic protein (BMP) antagonist. More recently, sclerostin has been identified as binding to LRP5/ 6 receptors and inhibiting the Wnt signaling pathway. The inhibition of the Wnt pathway leads to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Camurati–Engelmann Disease
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. This disease often appears in childhood and is considered to be inherited, however many patients have no previous history of CED within their family. The disease is slowly progressive and, while there is no cure, there is treatment. It is named for M. Camurati and G. Engelmann. Signs and symptoms Patients with CED complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and experience a waddling gait. Other clinical problems associate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diaphysis
The diaphysis is the main or midsection (shaft) of a long bone. It is made up of cortical bone and usually contains bone marrow and adipose tissue (fat). It is a middle tubular part composed of compact bone which surrounds a central marrow cavity which contains red or yellow marrow. In diaphysis, primary ossification occurs. Ewing sarcoma tends to occur at the diaphysis.Physical Medicine and Rehabilitation Board Review, Cuccurullo Additional images Illu long bone.jpg File:EpiMetaDiaphyse.jpg, Long bone See also *Epiphysis *Metaphysis The metaphysis is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epiphyses. The metap ... References Skeletal system Long bones {{musculoskeletal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopathia Striata
Osteopathia striata is a rare entity characterized by fine linear striations about 2- to 3-mm-thick, visible by radiographic examination, in the metaphyses and diaphyses of long or flat bones. It is often asymptomatic, and is often discovered incidentally. See also * List of radiographic findings associated with cutaneous conditions Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person. See also * List of cutaneous conditions * List of contact allergens * List of ... References Radiologic signs {{med-sign-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Buschke–Ollendorff Syndrome
Buschke–Ollendorff syndrome (BOS) is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner. It is named for Abraham Buschke and Helene Ollendorff Curth, who described it in a 45-year-old woman. Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. Signs and symptoms The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss): :::::::*Osteopoikilosis :::::::*Bone pain :::::::* Connective tissue nevi :::::::*Metaphysis abnormality Pathogenesis Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12. Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are: :::::::::* LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane. :::::::::* LEMD3 gene g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopoikilosis
Osteopoikilosis is a benign, autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton. Presentation The radiographic appearance of osteopoikilosis on an X-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from blastic metastasis, which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger. The distribution is variable, though it does not tend to affect the ribs, spine, or skull. Cause Epidemiology Men and women are affected in equal number, reflecting the fact that osteopoikilosis attacks indiscriminately. Ad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pyknodysostosis
Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", ''dys'' ("defective"), and ''ostosis'' ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. History The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. The defective gene responsible for the disease was discovered in 1996. The French painter Henri de Toulouse Lautrec (1864-1901) is believed to have had the disease. Signs and symptoms Pycnodysostosis causes the bones to be abnormally dense; the last bones of the fingers (the distal phalanges) to be unusually short; ... [...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] |
Leukocyte Adhesion Deficiency Syndrome
Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections. LAD is currently divided into three subtypes: LAD1, LAD2, and the recently described LAD3, also known as LAD-1/variant. In LAD3, the immune defects are supplemented by a Glanzmann thrombasthenia-like bleeding tendency. Signs and symptoms LAD was first recognized as a distinct clinical entity in the 1970s. The classic descriptions of LAD included recurrent bacterial infections, defects in neutrophil adhesion, and a delay in umbilical cord sloughing. The adhesion defects result in poor leukocyte chemotaxis, particularly neutrophil, inability to form pus and neutrophilia. Individuals with LAD suffer from bacterial infections beginning in the neonatal period. Infections such as omphalitis, pneumonia, gingivitis, and peritonitis are common and often life-threatening due to the infant's inability to properly destroy the invading pathogen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
