[The course and clinical manifestations of Peutz-Jeghers syndrome in the Russian population].

Background: Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the growth of hamartomatous polyps in the gastrointestinal tract, perioral pigmentation and an increased risk of malignant neoplasms. The syndrome is caused by a pathogenic variant in the gene.

Aim: To assess the clinical picture and treatment of Russian patients with PJS.

Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report.

We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond-Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the gene: NM_000179.2: c.

Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple adenomatous polyps in the colon. The main cause of the disease is a germline mutation in the APC gene. Here we report 4 unrelated FAP patients with different large deletions in the APC gene detected by Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion of exons 7-15, deletion of promoters B, A, and 5'-UTR region and deletion of promoter B (in 2 patients).

Side-to-end vs. straight stapled colorectal anastomosis after low anterior resection: results of randomized clinical trial.

Aim: The aim of this study is to compare surgical, functional, physiologic outcomes and QOL after low anterior resection (LAR) with andside-to-end or straight colorectal anastomosis.

Method: Between 2012 and 2015, 86 patients with mid and low rectal tumors were enrolled into randomized trial. Wexner score, number of defecations, use of antidiarrheal medicine or laxatives, enemas, pads, episodes of nocturnal incontinence, and urgency were recorded.

[SIDE-TO-END ANASTOMOSIS IN LOW ANTERIOR RECTAL RESECTION].

The authors have launched a prospective randomized study aimed to make a comparison of functional results of formation of straight coloanal (control group) and side-to end (main group) anastomosis in case of low anterior rectal resection since 2012. Each group consisted of 40 patients undergoing operation concerning uncomplicated rectal cancer of medium-ampullar section of rectum. It was noted that patients of the main group had lower stool frequency in postoperative period.