[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 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.

[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.

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. The detected differences in the deletion characteristics between unique and repeated mutations in the APC gene were typical of samples of patients from a number of populations. Samplings from different populations were heterogeneous by this sign. The incidence of 1-2-nucleotide deletions among unique and repeated deletions in the APC gene in patient samplings from different countries were in negative correlation.

[Potentialities of modern clinical X-ray radiology in the differential diagnosis of tumor and other obstructive diseases of the large bowel]. / Vozmozhnosti sovremennoi klinicheskoi rentgenologii v differentsial'noi diagnostike opukholevykh i drugikh obstruktivnykh zabolevanii tolstoi kishki.

The misdiagnosis rate in defining the cause of obstructive colonic disease is 8.2-24.4%. This is consistent with the fact that every 5 patients with colonic obstruction present difficulties in establishing the nature of a pathological process. The paper provides the results of analysis of clinical and X-ray symptoms in 350 patients with difficult differentially diagnosed cases of narrowing of the rectum and colon. Based on the analysis, the authors identified the basically important X-ray signs that might differentiate tumor stenoses from other obstructive diseases. They also defined the specific X-ray signs of such diseases as infiltrative cancer; extraintestinal cancer involved in the large bowel; inflammatory strictures in ulcerative colitis, diverticulosis, actinomycosis, tuberculosis, intestinal endometriosis, invagination, and other obstructive diseases. The developed differentiated diagnostic criteria could enhance the overall accuracy of X-ray study in this difficult group of patients from 72.7-80% to 93%.

[Rehabilitation of operated patients with diffuse polyposis of the large intestine]. / Reabilitatsiia operirovannykh bol'nykh diffuznym polipozom tolstoi kishki.r

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. This approach to complex treatment of diffuse polyposis promotes social and working rehabilitation of patients operated on.

[The diagnosis of perifocal inflammation in cancer of the colon]. / Diagnostika perifokal'nogo vospaleniia pri rake obodochnoi kishki.

The study discusses the experience gained with application of a complex of methods for early diagnosis of perifocal inflammation in 50 patients with cancer of the colon. Endoscopic, roentgenologic and radionuclide (using 67Ga citrate) methods were mainly employed. Perifocal inflammation was established in 38 (76%) patients. The diagnosis was further confirmed by morphologic examination of resected material. Application of the methods assured early diagnosis of asymptomatic perifocal inflammation associated with tumor.

[Hereditary multiple endocrine neoplasm syndromes]. / Nasledstvennye sindromy mnozhestvennykh éndokrinnykh neoplazii.

Three syndromes of multiple endocrine neoplasia (MEN) have been identified to date: MEN--I, IIa and IIb. They involve various combinations of endocrine neoplasia and occur mostly in young patients. Predisposition transmission mechanism is autosomal-dominant with total penetration and variable expressiveness. Patients' families should undergo screening which involves identification of biochemical markers and cytogenetic examination. This would allow identification of subjects at high risk for cancer and improvement of early diagnosis.