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Osteosclerosis
Osteosclerosis is a disorder 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] |
Sclerosis (medicine)
Sclerosis () 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 individuals with temporal lobe epilepsy ... [...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 associa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryoglobulinemia
Cryoglobulinemia is a rare medical condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins composed of immunoglobulins and sometimes complement components. Cryoglobulins specifically form gel-like solids by clumping together and becoming insoluble at temperatures below 37 °C. In the human body, these cryoglobulins precipitate together in small- and medium-sized blood vessels causing occlusions and triggering inflammatory reactions. This leads to a range of symptoms, including joint pain, skin rashes, and kidney problems. Cryoglobulinemia is classified into three groups. Type I cryoglobulinemia has only monoclonal proteins, developing in lymphoproliferative disorders. Type II cryoglobulinemia is the most common, occurring when both monoclonal and polyclonal proteins are present in the bloodstream and is usually linked to chronic Hepatitis C infection. Type III cryoglobulinemia has only polyclonal proteins and is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerostin
Sclerostin is a protein that in humans is encoded by the ''SOST'' gene. It 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 decrea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diaphysis
The diaphysis (: diaphyses) 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 Ossification (also called osteogenesis or bone mineralization) in bone remodeling is the process of laying down new bone material by cells named osteoblasts. It is synonymous with bone tissue formation. There are two processes resulting in t ... 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 References 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 radiology, radiographic examination, in the metaphyses and diaphyses of long or flat bones. It is often asymptomatic, and discovered incidentally most of the time. See also * List of radiographic findings associated with cutaneous conditions References Radiologic signs {{med-imaging-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Buschke–Ollendorff Syndrome
Buschke–Ollendorff syndrome (BOS) is a rare genodermatosis, genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules. It is inherited in an autosome, autosomal Dominance relationship#Dominant allele, dominant manner. Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others. Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928. 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. Among ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopoikilosis
Osteopoikilosis is a benign, autosomal dominant, sclerosing (hardening) 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 indi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pyknodysostosis
Pycnodysostosis () 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; and delays the normal closure of the connections ( sutures) of the skull bones in infancy, so that the "soft spo ... [...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 is called 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukocyte Adhesion Deficiency Syndrome
White blood cells (scientific name leukocytes), also called immune cells or immunocytes, are cells of the immune system that are involved in protecting the body against both infectious disease and foreign entities. White blood cells are generally larger than red blood cells. They include three main subtypes: granulocytes, lymphocytes and monocytes. All white blood cells are produced and derived from multipotent cells in the bone marrow known as hematopoietic stem cells. Leukocytes are found throughout the body, including the blood and lymphatic system. All white blood cells have nuclei, which distinguishes them from the other blood cells, the anucleated red blood cells (RBCs) and platelets. The different white blood cells are usually classified by cell lineage ( myeloid cells or lymphoid cells). White blood cells are part of the body's immune system. They help the body fight infection and other diseases. Types of white blood cells are granulocytes (neutrophils, eosinophils, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Tubular Acidosis
Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine. In renal physiology, when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron, allowing for exchange of salts, acid equivalents, and other solutes before it drains into the bladder as urine. The metabolic acidosis that results from RTA may be caused either by insufficient secretion of hydrogen ions (which are acidic) into the latter portions of the nephron (the distal tubule) or by failure to reabsorb sufficient bicarbonate ions (which are alkaline) from the filtrate in the early portion of the nephron (the proximal tubule). Although a metabolic acidosis also occurs in those with chronic kidney disease, the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
