Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe a rare case of tumoral calcinosis (TC) of the thoracic spine in a 13-year-old boy with thoracic scoliosis. The patient presented with a 2-year history of back pain. He had no personal or family history of bone disease, deformity, or malignancy. Magnetic resonance imaging revealed a heterogeneously enhancing mass involving the T-7 vertebral body and the left pedicle. Computed tomography findings suggested that the mass was calcified and that this had resulted in scalloping of the vertebral body. The lesion was resected completely by using a left T-7 costotransversectomy and corpectomy. The deformity was corrected with placement of a vertebral body cage and pedicle screw fixation from T-5 to T-9. Pathological analysis of the mass demonstrated dystrophic calcification with marked hypercellularity and immunostaining consistent with TC. This represents the third reported case of vertebral TC in the pediatric population. Pediatric neurosurgeons should be familiar with lesions such as TC, which may be encountered in the elderly and in hemodialysis-dependent populations, and may not always require aggressive resection.
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PMID:Tumoral calcinosis presenting as a deformity of the thoracic spine. 2213 16

Idiopathic inflammatory myopathies are a group of acquired skeletal muscle diseases that include polymyositis, dermatomyositis, and inclusion body myositis. Studies have shown many myositis-specific autoantibodies (MSAs) that are useful for the diagnoses as well as classification of idiopathic inflammatory myopathies, because they have been shown to correlate with distinct clinical phenotypes. Anti-Jo-1, anti-PL-7, anti-PL-12, anti-EJ, anti-KS, anti-OJ, anti-Ha, and anti-Zo antibodies target aminoacyl tRNA synthetases, and represent anti-synthetase syndrome. Anti-synthetase syndrome is characterized by myositis, interstitial lung disease, arthritis, fever, Raynaud's phenomenon, and mechanic's hands. Anti-Mi-2, anti-MDA5 (anti-CADM140), anti-TIF1 (anti-155/140, anti-p155), anti-NXP-2 (anti-MJ), and anti-SAE antibodies are specific for dermatomyositis. In particular, anti-MDA5 antibodies are clinically associated with amyopathic dermatomyositis developing into rapidly progressive interstitial lung disease, whereas anti-TIF1 and anti-NXP-2 antibodies are closely correlated with cancer-associated dermatomyositis in adults. In addition, anti-TIF1 and anti-NXP-2 antibodies are predominant MSAs found in juvenile dermatomyositis, and the latter was correlated with a high incidence of calcinosis. Furthermore, anti-SRP and anti-3-hydroxy-3-methylglutaryl-coenzyme A (anti-HMG-CoA) antibodies have been found in patients with necrotizing myopathy. Moreover, a recent study suggested the presence of autoantibodies to a 43-kDa muscle protein in patients with inclusion body myositis. Although the pathogenic role of MSAs remains unknown, recent studies have shown that myositis autoantigens are expressed at high levels in regenerating muscle fibers, which may initiate or amplify autoimmune responses in idiopathic inflammatory myopathies.
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PMID:[Myositis-specific autoantibodies]. 2356 93