[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 STK11 gene. AIM: To assess the clinical picture and treatment of Russian patients with PJS. MATERIALS AND METHODS: A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates - video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the STK11 gene. All removed polyps were subjected to the histological examination. RESULTS: The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.5-24) years; pathogenic variants in the STK11 gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach - in 23/30 (77%) patients, and in the colon - in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (17-59) years. CONCLUSION: Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients.

[Turcot syndrome and Gardner's syndrome in a female patient with familial colon adenomatosis. A case report and literature review]. / Sindrom Tiurko, sindrom Gardnera u patsientki s semeinym adenomatozom tolstoi kishki. Klinicheskoe nabliudenie i obzor literatury.

Turcot syndrome is a rare hereditary syndrome characterized by a combination of brain tumors and colorectal cancer. According to the literature, about 150 such cases have been reported. This article presents a rare clinical case and a literature review.

Cell reconstruction of the rectal mucosa in patients with familial adenomatous polyposis: endoscopy, morphology, immunohistochemistry.

We propose a new surgical approach to the treatment of familial colorectal adenomatous polyposis implying preservation of a portion of the rectum with removed mucosa. For reconstruction of the rectum, allotransplantation of the mixed culture of fetal allogenic somatic cells of the intestinal epithelium and mesenchymal cells of various origin is used. The mechanisms of mucosa reparation were studied in 34 patients. Endoscopic, morphological, and immunohistochemical studies showed that cell transplantation considerably accelerated reparation of the mucosa in mucosectomized rectum. The proposed treatment of familial colorectal adenomatous polyposis allows delaying the development of rectal polyps and cancer for many years.

[The comparative analysis of the surgical treatment of the familial adenomatosis of the colon with the use of cell transplantation].

Authors represent the surgical technique of colectomy with preserving the natural intestinal passage in the treatment of the familial colic adenomatosis. The technique is based on the preserving the distal part of the rectum with its demucosation and connecting with the ileal conduit. The rectal mucosa reconstruction is performed with the use of allogenic transplantation of fetal intestinal cells. 27 patients were operated on. The rectal mucosa reconstruction was registered in all cases range 4-12 weeks postoperatively. The long-term follow-up showed no disease recurrence within 5 years. The method demonstrated better intermediate and long-term functional results.

Cell transplantation in surgical treatment of familial adenomatous polyposis coli.

We developed a method of surgical treatment of familial adenomatous polyposis coli giving an opportunity to prevent the growth of new polyps in the preserved part of the rectum and consisting in transplantation of fetal cells of the epithelial origin into the rectum wall after mucosectomy. Since the rectum is partially preserved, ileorectal anastomosis can be formed after colectomy, which preserves natural bowel passage. Complex examination 4 weeks after surgery revealed the formation of normal rectal mucosa. No new polyps were detected in the rectum 1-3 years after surgery.

[Peculiarities of colonic cancer metastasis to the ovaries and the role of prophylactic ovariectomy]. / Osobennosti metastazirovaniia raka obodochnoi kishki v iaichniki i rol' profilakticheskoi ovariéktomii.

Colonic tumor dissemination to the ovaries was registered in 3%. The likelihood of such dissemination in locally-advanced cancer of the sigmoid colon was higher which in turn supports the hypothesis on colonic tumor dissemination to the ovary via transperitoneal implantation. The patients' condition improved and survival increased following excision of involved ovaries both during and at different stages after radical surgery. Preventive bilateral ovariectomy failed to improve 5-year survival.

[Restoration of natural intestinal passage after Hartmann's operation]. / Vosstanovleniie estestvennogo kishechnogo passazha posle operatsii Gartmana.

From 1972 to 1988 restorative operations were carried out at the Institute of Proctology on 252 patients after resection of the colon by Hartmann's technique. Analysis showed that restoration of natural intestinal passage after Hartmann's operation for resection of the colon is a complex and dangerous surgical intervention. When undertaking such intervention, the surgeon should take into account not only the patient's wish to be relieved from the colostomy, but also correct appraisal of the possibility of accomplishing the restorative operation from the standpoint of the patients' somatic condition, the technical conditions for restoration of intestinal continuity, and his own professional possibilities. In cases of a short rectal stump, various modifications of Duhamel's operation are the most safe and technically executable method for restoration of the natural intestinal passage. Such restorative-reconstructive operations should be carried out in specialized coloproctological clinics.

[Management of patients after reconstructive and restorative surgery of the large intestine]. / Vedenie bolnykh posle rekonstruktivno-vosstanovitelnykh operatsii na tolstoi kishke.

Reconstructive-restorative operations were conducted on the large intestine in 932 patients. Means of optimization of treatment in the early postoperative period in elderly and old-aged patients, who often have concomitant diseases, must be searched for. The dynamics of energy consumption in the early postoperative period was studied in 15 patients. Considerable effectiveness of complex diet including proteins was established during elaboration of individual dosed feeding. The immune status was studied in dynamics in 38 patients; immunomodulation agents lead in most cases to restoration of the reduced immunity indices or have a stabilizing effect on them when used both as a preventive and as a therapeutic measure. Percutaneous electrostimulation in the early postoperative period proved to be highly effective in arresting the pain syndrome, removal of functional intestinal paresis and reflex ischuria.