Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

The normal range of glucose-phosphate-isomerase (GPI) in the plasma of children during the first month of life is up to 80 U/l; until the end of the second year of life between 11 and 50 U/l; thereafter the upper limit is 46 U/l. In osteogenic sarcoma or medulloblastoma there is a good correlation between activity of GPI in plasma and clinical tumor stage. In a lot of other tumors sensitivity of this enzyme is either very low as in Ewing-sarcoma or myeloic leukemia or there is no consistent relation to the extent of the tumor. High activities of GPI are equally obtained in children suffering from cystic fibrosis, diabetes mellitus or muscular dystrophy. GPI is not valid as a tumor marker even being raised in sarcoma and medulloblastoma as mentioned. So it is not necessary to check GPI activity as a part of routine enzyme chemistry.
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PMID:[Behavior of glucosephosphate isomerase in children with malignant diseases]. 346 43

Altered glycosylation and/or expression of dystroglycan have been reported in forms of congenital muscular dystrophy as well as in cancers of the breast, colon, and oral epithelium. To date, however, there has been no study of the expression of dystroglycan in pediatric solid tumors. Using a combination of immunostaining on tissue microarrays and immunoblotting of snap-frozen unfixed tissues, we demonstrate a significant reduction in native alpha dystroglycan expression in pediatric alveolar rhabdomyosarcoma (RMS), embryonal RMS, neuroblastoma (NBL), and medulloblastoma, whereas expression of beta dystroglycan, which is cotranslated with alpha dystroglycan, is largely unchanged. Loss of native alpha dystroglycan expression was significantly more pronounced in stage 4 NBL than in pooled samples of stage 1 and stage 2 NBL, suggesting that loss of native alpha dystroglycan expression increases with advancing tumor stage. Neuroblastoma and RMS samples with reduced expression of native alpha dystroglycan also showed reduced laminin binding in laminin overlay experiments. Expression of natively glycosylated alpha dystroglycan was not altered in several other pediatric tumor types when compared with appropriate normal tissue controls. These data provide the first evidence that alpha dystroglycan glycosylation and laminin binding to alpha dystroglycan are altered in certain pediatric solid tumors and suggest that aberrant dystroglycan glycosylation may contribute to tumor cell biology in patients with RMS, medulloblastoma, and NBL.
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PMID:Altered expression of natively glycosylated alpha dystroglycan in pediatric solid tumors. 1764 Jul 12

A 9-year-old boy with known Duchenne type muscular dystrophy (DMD) presented with signs of increased intracranial pressure. Radiological investigations revealed a lesion in the midline of the posterior fossa. Subtotal resection was performed. Pathology findings were consistent with the diagnosis of anaplastic medulloblastoma. The postoperative lumbar CSF was positive for malignant cells. Postoperatively, the patient showed severe neurological deterioration and lost his capacity to walk. He was treated with craniospinal radiation followed by nonintensive chemotherapy. At 30 months postsurgery, he was still in complete remission but had not recovered his walking ability. This is the second report of a malignant brain tumor in a boy with DMD. The possible link between the 2 conditions is discussed, as are ethical considerations regarding the management of medulloblastoma in children with DMD.
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PMID:Anaplastic medulloblastoma in a child with Duchenne muscular dystrophy. 2270 30