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Sponastrime Dysplasia
Sponastrime dysplasia is a rare condition characterised by facial and skeletal abnormalities.Cooper HA, Crowe J, Butler MG (2000) Sponastrime dysplasia: report of an 11-year-old boy and review of the literature. Am J Med Genet 92: 33-39Gripp KW, Johnson C, Scott CI, Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ (2008) Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts. Am J Med Genet 146A: 468-473 Signs and symptoms The main features of this condition are evident in skeleton and face.Langer LO Jr, Beals RK, LaFranchi S, Scott CI, Jr, Sockalosky JJ (1996) Sponastrime dysplasia: five new cases and review of nine previously published cases. Am J Med Genet 63: 20-27. Note: Erratum: Am. J Med Genet 65: 94 only 1996 Facial features: * Macrocephaly * Frontal bossing * Midface hypoplasia * Depressed nasal root * Small upturned nose * Prognathism Skeletal features: * Shortened limbs (more pronounced in lower li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly. Causes Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. Many genetic conditions are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prognathism
Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull. In general dentistry, oral and maxillofacial surgery, and orthodontics, this is assessed clinically or radiographically ( cephalometrics). The word ''prognathism'' derives from Greek πρό (''pro'', meaning 'forward') and γνάθος (''gnáthos'', 'jaw'). One or more types of prognathism can result in the common condition of malocclusion, in which an individual's top teeth and lower teeth do not align properly. Presentation Prognathism in humans can occur due to normal variation among phenotypes. In human populations where prognathism is not the norm, it may be a malformation, the result of injury, a disease state or a hereditary condition. Prognathism ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coxa Vara
Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened and the development of a limp. It may be congenital and is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of the body. This may either be congenital or the result of a bone disorder. The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases (e.g. Paget's disease of bone), post-Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture between the greater and lesser trochanter). Shepherd's Crook deformity is a severe form of coxa vara where the proximal femur is severely deformed with a reduction in the neck shaft angle beyond 90 degrees. It is most commonly a sequela of osteogenesis impe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metaphyses
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 metaphysis contains a diverse population of cells including mesenchymal stem cells, which give rise to bone and fat cells, as well as hematopoietic stem cells which give rise to a variety of blood cells as well as bone-destroying cells called osteoclasts. Thus the metaphysis contains a highly metabolic set of tissues including trabecular (spongy) bone, blood vessels , as well as Marrow Adipose Tissue (MAT). The metaphysis may be divided anatomically into three components based on tissue content: a cartilaginous component (epiphyseal plate), a bony component (metaphysis) and a fibrous component surrounding the periphery of the plate. The growth plate synchronizes chondrogenesis with osteogenesis or interstitial cartilage growth with both appos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteoporosis
Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to bone fragility, and consequent increase in fracture risk. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. After the broken bone heals, the person may have chronic pain and a decreased ability to carry out normal activities. Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after the menopause due to lower levels of estrogen, and after ' andropause' due to lower levels of testosterone. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataract
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypogammaglobulinemia
Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are produced in the blood (thus '' hypo-'' + ''gamma'' + ''globulin'' + '' -emia''). This results in a lower antibody count, which impairs the immune system, increasing risk of infection. Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as common variable immunodeficiency, or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria. Patients with hypogammaglobulinemia have reduced immune function; important considerations include avoiding use of live vaccines, and take precautionary measures when traveling to regions with endemic disease or poor sanitation such as receiving immunizations, taking antibiotics abroad, drinking only safe or boiled water, arranging appropriate medical cover in advance of travel, and ensuring continuatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tracheobronchomalacia
Tracheobronchomalacia or TBM is a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse. This condition can also affect the bronchi. There are two forms of this condition: primary TBM and secondary TBM. Primary TBM is congenital and starts as early as birth. It is mainly linked to genetic causes. Secondary TBM is acquired and starts in adulthood. It is mainly developed after an accident or chronic inflammation. Tracheobronchomalacia may also occur in people who have normal cartliginous structure of the trachea, but significant atrophy of the posterior wall, causing significant invagination of the trachea on expiration. In these cases it is more commonly known as Excessive Dynamic Airway Collapse (EDAC). Signs and symptoms Initially TBM may be asymptomatic or some patients do not experience symptoms at all. In a progressive TBM case symptoms include: * shortness of breath * a cough * mucus build up * stridor (a wheeze-like sound o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TONSL
Tonsoku-like, DNA repair protein is a protein that in humans is encoded by the TONSL gene. Function The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation In chemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion. This process and its inverse, dephosphorylation, are common in biology and could be driven by natural selection. Text was copied from this source, wh ... of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. References Further reading * * * * * * * * Genes Human proteins {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 8
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. __TOC__ Genes Number of genes The following are some of the gene count estimates of human chromosome 8. 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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