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)

In 52 adult women with ages ranging from 20 to 35 years (mean age, 26.5 +/- 4.9 years) with scoliosis of the idiopathic type (mean, 44.7 +/- 17.4 Cobb degrees), bone density was assessed by conventional grading of the relative vertebral density (RVD) and the Singh trabecular index (STI). In vivo determinations of the bone mineral content (BMC) were performed in the radius, femur, and lumbar vertebrae by new noninvasive techniques of single (SPA)- and dual (DPA)-photon absorptiometry. Frequency distributions of scoliosis vs. control subjects with respect to RVD and STI grades showed interdependence to the P less than 0.01 level of significance. The mean BMC determinations of the radius (0.685 +/- 0.061 gm/sq cm) of the femur (0.947 +/- 0.110 gm/BA/sq cm) and of the vertebrae (1.091 +/- 0.105 gm/BA/sq cm) were markedly reduced compared with published control values (P less than 0.001). In comparison with the authors' institutional controls, mean BMC measurements were significantly lower for the radius (P less than 0.05) and for the femur (P less than 0.001). These results conclusively demonstrated that assessment of peak skeletal mass in a population of adult premenopausal women with idiopathic scoliosis showed significant decrease in average BMC measurements compared with control values. Maximal bone accretion was best evaluated at locations unaffected by deformity such as the radial diaphysis and the femoral neck.
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PMID:Peak skeletal mass assessment in young adults with idiopathic scoliosis. 277 19

It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting with severe mental retardation and epilepsy. The main clinical features of AS may not be apparent early in life. Clinical findings present in all patients include developmental delay, which becomes apparent by 6-12 months of age, severely impaired expressive language, ataxic gait, tremulousness of limbs, and a typical behavioral profile, including a happy demeanor, hypermotoric behavior, and low attention span. Seizures, abnormal electroencephalography, microcephaly, and scoliosis are observed in >80% of patients. Approximately 70% of patients show a deletion involving the maternally inherited chromosome 15q11-q13, encompassing a cluster of gamma-aminobutyric acid receptor subunit genes, 3% show chromosome 15 paternal uniparental disomy (UPD), 1% harbor a mutation in the imprinting center (a transcriptional regulatory element), and 6% harbor intragenic mutations of the ubiquitin-protein ligase E3A (UBE3A) gene. Twenty percent of patients have no detectable genetic abnormality. Rare cases of familial recurrence of AS show either imprinting center (IC) or UBE3A mutations. Approximately 75% of cases are detected through the methylation test, which allows the detection of AS due to deletions, UPD and IC mutations. Mutation analysis of the UBE3A gene should be performed when the methylation test is negative. Individuals with chromosome 15q11-q13 deletions have a more severe clinical picture and are more prone to develop severe epilepsy. Epilepsy has typical features, including absence and myoclonic seizures, and insidious episodes of nonconvulsive or subtle myoclonic status which are easily overlooked as children appear apathetic or in a state of neurologic regression. Tremulousness, present in all patients even when seizures are well controlled or absent, is related to distal cortical myoclonus. Valproic acid (sodium valproate), benzodiazepines, and ethosuximide, in various combinations, are quite effective in treating the typical seizure types. Piracetam may help in reducing distal myoclonus. Carbamazepine and vigabatrin may seriously aggravate absence and myoclonic seizures and should be avoided. Cognitive, language, and orthopedic problems must be addressed with vigorous rehabilitation programs, including early physical therapy, which may help to develop communicative skills and prevent severe scoliosis and subsequent immobility. Where these treatment strategies are applied, individuals with AS may reach an appreciable level of integration, self care, and have a normal life span.
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PMID:Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. 1451 Jun 23