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PubMed1997

Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23.

BACKGROUND & AIMS: Bannayan-Riley-Ruvalcaba syndrome is a congenital syndrome with characteristic features of macrocephaly, cognitive and motor dysfunction, subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis. It has been suggested that Bannayan-Riley-Ruvalcaba syndrome may be a variant of juvenile polyposis coli because of the shared features of intestinal juvenile polyps. The aim of this study was to precisely map loss of DNA from 2 patients with intestinal juvenile polyposis and karyotypic abnormalities involving chromosome 10q. METHODS: DNA was extracted from peripheral leukocytes drawn from each patient and each patient's biological parents. The DNA was amplified by polymerase chain reaction using primers specific for microsatellites located on chromosome 10q. RESULTS: Precise mapping localized a maximal distance of 1.0 cM that was commonly deleted from each patient's genome, between D10S541 and D10S1735. This area overlaps the region for Cowden disease, a distinct hamartomatous intestinal polyposis syndrome with increased risk of breast and thyroid carcinoma. CONCLUSIONS: The three hamartomatous polyposis syndromes, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis coli, and Cowden disease, may share the same genetic defect because of their common map localization to chromosome 10q23.

Adenomatous Polyposis Coli↗
PubMed1978

Streptococcus bovis bacteremia and underlying gastrointestinal disease.

Twenty-six adults with Streptococcus bovis endocarditis and ten with bacteremia alone were studied to determine possible portals of entry. Of 36 patients (17 with endocarditis, eight with bacteremia alone), 25 had gastrointestinal lesions or manipulation. In 22, the gastrointestinal tract appeared to be the source of S bovis bacteremia. Four patients had either carcinoma of the colon (two) or potentially malignant villous adenomas (two) when first seen because of S bovis bacteremia. None of these, nor two other patients with benign colonic polyps, had bowel-related symptoms or signs prior to admission. Since S bovis is a normal intestinal tract inhabitant, bacteremia may frequently be associated with bowel lesions. Streptococcus bovis bacteremia may provide an early clue to the presence of serious and clinically unexpected gastrointestinal disease. Gastrointestinal tract evaluation should be part of S bovis bacteremia patient management, with or without endocarditis.

Adult↗