Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of this study was to assess the spectrum of radiographic findings in primary hyperparathyroidism (PHPT). The study group consisted of 16 women and 7 men whose Ca levels were at least two or three times higher than normal. The average age was 55.3 in women and 49.4 in men. We detected carcinoma in 1, hyperplasia in 1, multiple adenomas in 4, single adenoma in 17 patients. The most common finding in the skeletal system was the decreased bone mineral density (BMD) and the complete loss of the lamina durae dentium. BMD was found lower in women than in men. This result attributed the increased number of postmenopausal patients in our study group. The second most common finding in our study group was subperiosteal bone resorption. Brown tumors (BTs) were located at maxilla in one, widespread in one, mandibula in two, long tubular bones in four patients. Renal stone disease was found in five, spastic colon in two, gastric ulcer in one, mitral valve calcification in one patients. We demonstrated no pathologic changes consistent with PHPT in remaining seven patients.
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PMID:The spectrum of radiographic findings in primary hyperparathyroidism. 1198 74

Arachnomelia in Brown Swiss cattle is a monogenic autosomal recessive inherited congenital disorder of the skeletal system giving affected calves a spidery look (OMIA ID 000059). Over a period of 20 years 15 cases were sampled in the Swiss and Italian Brown cattle population. Pedigree data revealed that all affected individuals trace back to a single acknowledged carrier founder sire. A genome scan using 240 microsatellites spanning the 29 bovine autosomes showed homozygosity at three adjacent microsatellite markers on bovine Chr 5 in all cases. Linkage analysis confirmed the localization of the arachnomelia mutation in the region of the marker ETH10. Fine-mapping and haplotype analysis using a total of 34 markers in this region refined the critical region of the arachnomelia locus to a 7.19-Mb interval on bovine Chr 5. The disease-associated IBD haplotype was shared by 36 proven carrier animals and allows marker-assisted selection. As the corresponding human and mouse chromosome segments do not contain any clear functional candidate genes for this disorder, the mutation causing arachnomelia in the Brown Swiss cattle might help to identify an unknown gene in bone development.
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PMID:Arachnomelia in Brown Swiss cattle maps to chromosome 5. 1911 36