[Medical rehabilitation in patients with anal incompetence after surgery for stage IV hemorrhoids]. / Konservativnaya reabilitatsiya patsientov s nedostatochnost'yu anal'nogo sfinktera posle khirurgicheskogo lecheniya gemorroya IV stadii.

The choice of medical rehabilitation in patients with anal incontinence is impossible without diagnostic data revealing the mechanism of fecal incontinence. The most promising are programs of comprehensive physiotherapeutic rehabilitation based on biofeedback training. The rate of anal incompetence (AI) after hemorrhoidectomy is 1.3-12.5%. However, in addition to the organic cause (surgical trauma), functional disorders of the external sphincter and pelvic floor muscles may contribute to the pathogenesis of anal incontinence, aggravating the incontinence symptoms after surgery. Therefore, these functional disorders should be diagnosed before surgery. However, medical rehabilitation programs for anal incontinence after hemorrhoidectomy are not standardized, and functional outcomes have not been studied. OBJECTIVE: To evaluate the outcomes of comprehensive rehabilitation in patients with AI after hemorrhoidectomy to improve quality of life after surgery. MATERIALS AND METHODS: A retrospective study was carried out on 46 patients (mean age 53.8±15.4 years) after hemorrhoidectomy with fecal incontinence, 13 (28.3%) males and 33 (71.7%) females. The main group included 25 patients who received comprehensive rehabilitation, including biofeedback training and tibial neuromodulation (TNM) for 15 days. The control group consisted of 21 patients who received TNM at home also for 15 days. The severity of fecal incontinence was determined using the Wexner score. The functional state of the sphincter before and after surgery was assessed using the anorectal manometry (sphincterometry) (WPM Solar, the Netherlands). RESULTS: Comprehensive rehabilitation resulted in a statistically significant clinical improvement: a decrease in the Wexner score in both males and females. No significant differences in manometry results were observed: the anal sphincter tone increased by 16.0% in females and 10.6% in males, and contractility increased by 17.7% and 15.1%, respectively. Monotherapy with TNM in control group patients improved tone indices by 8.7% in females and 6.8% in males, and contractility by 6.2 and 5.4%, respectively, which was lower than in the main group. CONCLUSION: Contraindications to physiotherapeutic procedures based on electrical stimulation, extracorporeal magnetic stimulation, and magnetic translumbosacral neuromodulation determine the only possible choice of medical rehabilitation, which is the combination of biofeedback training and TNM (as superior to TNM monotherapy). If out-patient medical rehabilitation is not feasible, patients are recommended to complement the home course with a specially designed set of exercises for anal incontinence treatment.

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). The deletion of promoters B, A, and 5'-UTR was not described in the literature earlier, so we report it for the first time. In 2 families with promoter B deletion, we could identify the tendency for decreasing the age of disease manifestation in each next generation, in contrast to the previous one. The incidence of large deletions in APC among Russian patients with FAP reached 4.8% and our finding suggests the need to study this gene by MLPA in "no mutation patients" after Sanger's sequencing.

[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. Clinical pattern of disease in Russian patients included: frequent polyposis of colon and stomach (62,5% and 75%, respectively) along with small bowel; frequent presence of malignant tumors (62,5%). These clinical aspects can help physicians to find out Peutz-Jeghers syndrome. Molecular-genetic testing of individuals should be recommended.

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.

[Congenital angiodysplasias of the large intestine]. / Vrozhdennye angiodisplazii tolstoi kishki.

Angiodysplasia is a rare disease of the intestinal vessels. One of its types is the congenital form (so-called hemangioma or vascular hamartoma) which is mostly encountered at young age. Forty-eight patients with congenital forms of angiodysplasia of the large intestine were treated at the Scientific Research Institute of Proctology, RF Ministry of Health, beginning from 1962. According to morphological structure, there were 26 cases of the cavernous type, 11 of the capillary type, 11 of the mixed forms. In 46 of 48 patients the rectum and sigmoid were involved in the pathological process. Intestinal bleeding of various degree and intensity, occurring in 40 patients from early childhood, was the principal symptom in the clinical picture of the disease. The endoscopic picture of congenital angiodysplasia of the large intestine has characteristic macroscopic signs. Irrigoscopy and angiography are also very valuable and informative methods in the diagnosis of this form. Surgical interventions were performed on 28 patients, which accounted for 58.3% of the total number of patients with congenital angiodysplasia. Profuse bleeding leading to stable anemization of the patient is an indication for surgery. The volume of the operation was determined by the localization and spread of the pathological process. In concurrent localization of dysplasias, particularly in the pelvic cavity, and bearing in mind the seriousness of the operation itself, the degree of intraoperative blood loss, and the technical peculiarities of the intervention we prefer many-stage treatment. We encountered 18 complications, which mainly developed on the part of the perineum.