[Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome].

Peutz-Jeghers syndrome is a rare hereditary syndrome characterized by presence of hamartoma polyps in intestinal tract and usually by mucocutaneous pigmentation. Clinical-genetic characteristics of Russian patients with Peutz-Jeghers syndrome were studied for the first time. Four germline mutations in STK11gene were found in probands from six families and three of them had not been described previously.

[The weakened form of familial adenomatosis: clinical and genetic characteristics and methods of treatment].

Clinical and genetic analysis of 24 Russian patients with attenuated form of family colon adenomatosis was undertaken. On the basis of obtained clinical and genetic data it was defined the algorithm of therapeutic measures in this group of patients--from dynamic monitoring or endoscopic polypectomy to performing extensive resections of the colon in situations associated with cancer development, an increase of the intensity of growth of polyps or an appearance of villous lesions. Some of the patients had molecular-genetics causes of a weakened form of family adenomatosis.

New mutations in the APC gene in familial adenomatous polyposis: detection, characterization, and analysis.

The spectrum of mutations in the APC gene in familial adenomatous polyposis was detected in a sampling from the Russian population. Fifteen new mutations were found. Deletions associated with the loss of only 1 or 2 nucleotides (89% cases) prevailed among new (unique) mutations, while all known deletions were caused by the loss of 4 or 5 nucleotides.

[Rehabilitation of operated patients with diffuse polyposis of the large intestine].

In 1965 to 2000, the State Coloproctology Research Center operated on 584 patients for diffuse polyposis of the large intestine. A 18-year follow-up showed that metabolic disorders developed in 85% of cases due to the loss of large intestine that is important for maintaining homeostasis. The authors consider it necessary to continuously follow up the patients operated on for diffuse polyposis for timely diagnosis of occurring metabolic disorders and their correction.