Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bone scintigraphy is an extremely sensitive method for the detection of focal bone disease. In many hospitals, quantitative sacroiliac joint scintigraphy is still a routine procedure in detecting sacroiliitis. In previous studies, both 99Tcm-methylenediphosphonate (99Tcm-MDP) and 99Tcm-pyrophosphate have been used for bone imaging. 99Tcm-pyrophosphate is eliminated more slowly than 99Tcm-MDP from the circulation and gives a higher background activity. We wished to discover the sacroiliac/sacral ratio (SI/S ratio) changes when using different bone agents. The aim of this study was to evaluate differences in SI/S ratios between the two bone agents. Forty-six control subjects, aged 31-50 years, with no history of back pain, scoliosis, kyphosis, joint pain, arthritis, lesions within the pelvis, chemotherapy or systemic diseases such as diabetes or systemic lupus erythematosis, were included in the study. A posterior planar image of the pelvis was performed to calculate the SI/S ratio 3 h after the injection of 740 MBq 99Tcm-MDP or 99Tcm-pyrophosphate. Twenty-five subjects were studied with 99Tcm-MDP and 21 with 99Tcm-pyrophosphate. We found the SI/S ratios using 99Tcm-MDP to be slightly higher than those using 99Tcm-pyrophosphate, especially on the left side, but this difference was not statistically significant (P-values > 0.1 on both sides using Student's t-tests for unpaired data).
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PMID:The influence of two bone agents (99Tcm-pyrophosphate and 99Tcm-methylenediphosphonate) on quantitative sacroiliac joint scintigraphy. 919 87

Genetic predisposition contributes to scoliosis in humans. Two syndromes of primary scoliosis occur--congenital scoliosis, which presents at birth, often associated with other abnormalities, and idiopathic scoliosis which becomes apparent between infancy and adolescence. Little is known regarding the genetic transmission of scoliosis risk. Data gleaned from mouse mutations provide a valuable supplement to human family studies. More than 50 mouse mutations include scoliosis, kyphosis, or tail kinks as a phenotype; the locations of the human homologues for 28 of these can be predicted on the basis of synteny conservation. Some mouse mutations are either more penetrant or more fully expressed in one sex. The mouse data provide a basis both for optimism and for caution in understanding human scoliosis. Mouse models provide insight into mechanisms underlying spinal curvature and help direct searches for genes important in human disease. Four types of defects account for most mouse scoliosis: defects of cell-cell communication, intracellular signal transduction, matrix protein synthesis, and matrix protein metabolism. Mouse data suggest that at least two types of heterogeneity complicate genetic analysis: locus heterogeneity, in which lesions of distinct genes lead to a similar phenotype, and allelic heterogeneity, in which the phenotypes arising from alleles of a single gene differ. By focusing initial studies on multiplex families with apparent simple Mendelian inheritance the effect of heterogeneity is minimized.
Lupus 1999
PMID:A genomic approach to scoliosis pathogenesis. 1046 62

Wilson's disease (WD) is a rare disease, defined as an autosomal recessive disorder characterised by release of free copper and dramatic accumulation of intracellular hepatic copper with subsequent hepatic and central nervous system abnormalities. Mutations of the ATP7B gene are responsible for the metabolic dysfunction. Small open studies have reported spinal radiological abnormalities including scoliosis, diffuse bone demineralisation, osteochondritis and occasionally fracture. Prevalence of osteoporosis in young adult patients is debated, ranging from 10%, with normal mean Z-score values, to 43% in adults. Past history of spinal or peripheral fractures might be present in 50% of patients. Articular disorders include arthralgias of large joints, such as knee pain, rare effusions, early onset of radiological features of osteoarthritis and associated osteochondritis of the knee joint. Radiological chondrocalcinosis, an unusual feature in young adults, has to be confirmed. Few patients may develop drug-induced lupus with arthralgias, positive anti-nuclear and anti-histone antibodies, secondary to D-penicillamine, the major copper chelator used in WD. In this orphan disease, small retrospective studies cannot allow ascertaining definite WD-related articular and bone manifestations. However, such clinical and radiological abnormalities are occasionally the first symptoms leading to diagnosis. Physicians should be aware that unexplained joint pain and effusion, or even radiological features of osteoarthritis, of the large joints in adolescents could suggest WD and lead to copper survey.
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PMID:Miscellaneous non-inflammatory musculoskeletal conditions. Musculoskeletal conditions associated with Wilson's disease. 2214 43