Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Hutchinson-Gilford progeria syndrome (HGPS) is a very rare, but well known inherited condition of uncertain etiology in which features of premature and accelerated aging are mixed with those of delayed maturity and immaturity. Appearance at birth and birth weight are usually normal but growth typically slows after 1 year. All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopecia, sculptured nose, prominent scalp veins, loss of subcutaneous fat, prominent joints, hyperlipidemia and early arteriosclerosis characterize the syndrome. Skeletal compromise includes hypoplasia and dysplasia, persistent open fontanelles, severe osteolysis and pathological fractures. There are no intellectual deficits in patients with this syndrome, and intelligence is unaffected. The life span in progeria is shortened by early arteriosclerosis. In this case, we review the characteristics of the severe osteolytic compromise in distal arms and limbs and bone deformities in a case of an 8-year-old girl, who was admitted to our hospital with short stature and loss of hair. On examination, the child had the major clinical criteria for HGPS as well as severe alterations in osteogenesis, including craniofacial disproportion, short and sculptured nose, delayed dentition, severe scoliosis, clavicular deformity and asymmetrical and hypoplastic arms and legs. Generalized osteopenia and severe osteolytic compromise in distal extremities were found by X-ray examination. In summary, we report the case of an 8-year-old girl who meets the diagnostic criteria for HGPS with severe involvement of her bones and joints with a review of the current literature and a possible therapeutic approach.
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PMID:Severe bone changes in a case of Hutchinson-Gilford syndrome. 1238 48

Generalized osteopenia and spinal deformity occur concomitantly in adolescent idiopathic scoliosis (AIS) during the peripubertal period. No large-scale study has been performed to reveal the link between scoliotic deformity and bone-mineral status in AIS. In a cross-sectional study, the extent of scoliotic-curve severity in relation to bone-mineral status was examined for 619 AIS girls and compared with those of 300 healthy non-AIS counterparts aged 11-16 years. Curve severity was categorized into a moderate (10-39 degrees) and a severe group (> or = 40 degrees) based on Cobb angle. Anthropometric parameters, bone mineral-density (BMD) and bone mineral-content (BMC) of lumbar spine, proximal femur and distal tibia were determined by dual-energy X-ray absorptiometry and peripheral QCT. Differences in anthropometric parameters and bone mass among control and the AIS-moderate and AIS-severe groups were tested by one-way ANOVA. Association between Cobb angle and bone mass was determined by univariate and multivariate analyses. Mean Cobb angle of the moderate and severe groups were 25+/-6.3 degrees and 50.2+/-11.3 degrees, respectively. Arm span and leg length among the moderate and severe AIS subjects were almost all longer than for the controls from age 13 years. Age-adjusted arm span and leg length were significantly correlated with curve severity (p < 0.015). Starting from age 13 years, most axial and peripheral BMD and BMC of the moderate or severe AIS group was significantly lower than for the controls (p < 0.029). Age-adjusted Cobb angle was inversely correlated with BMD and BMC of the distal tibia and lumbar spine among AIS subjects (p < or = 0.042). The proportion of osteopenic AIS girls in the severe group was significantly higher than that in the moderate group (p < or = 0.033). Multivariate analysis indicated that Cobb angle was inversely and independently associated with axial and peripheral BMD and BMC (p < or = 0.042). To conclude, curve severity was an inverse and independent associated factor on bone mineral mass of AIS during peripuberty. The study implied that prevention of osteopenia could be as important as controlling spinal progression in the management of AIS.
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PMID:Association of osteopenia with curve severity in adolescent idiopathic scoliosis: a study of 919 girls. 1616 40