Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, <i>MUTYH</i>-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements. A total number of 135 patients was included in the study: 83 patients with a clinical diagnosis of “familial adenomatous polyposis”, 18 — with suspected MUTYH-associated polyposis, and 34 — with a clinical diagnosis of “Peutz–Jeghers syndrome”.Results. Seven large deletions and one large duplication in the APC gene were identified in 83 patients with classic familial adenomatous polyposis, with rate of large rearrangements 9.6 % (8/83). In 18 patients with suspected MUTYH-associated polyposis, no large rearrangements were found in the MUTYH gene. Four large deletions in the STK11 gene (12 %, 4/34) were detected in 34 patients with Peutz–Jeghers syndrome.Conclusion. For the first time, the expediency of including the method of detecting large rearrangements in routine DNA test list for Russian patients with various hereditary polyposis syndromes is demonstrated. Routine use of MLPA method makes it possible to increase the total frequency of detection of pathogenic variants in the APC and STK11 genes above 90 %. At the same time, the need for searching of large rearrangements in the MUTYH gene were not justified

A Postulate for Tiger Recovery: The Case of the Caspian Tiger

Recent genetic analysis has shown that the extinct Caspian Tiger (P. t. virgata) and the living Amur Tigers (P. t. altaica) of the Russian Far East are actually taxonomically synonymous and that Caspian and Amur groups historically formed a single population, only becoming separated within the last 200 years by human agency. A major conservation implication of this finding is that tigers of Amur stock might be reintroduced, not only back into the Koreas and China as is now proposed, but also through vast areas of Central Asia where the Caspian tiger once lived. However, under the current tiger conservation framework the 12 “Caspian Tiger States” are not fully involved in conservation planning. Equal recognition as “Tiger Range States” should be given to the countries where the Caspian tiger once lived and their involvement in tiger conservation planning encouraged. Today, preliminary ecological surveys show that some sparsely populated areas of Central Asia preserve natural habitat suitable for tigers. In depth assessments should be completed in these and other areas of the Caspian range to evaluate the possibility of tiger reintroductions. Because tigers are a charismatic umbrella species, both ecologically and politically, reintroduction to these landscapes would provide an effective conservation framework for the protection of many species in addition to tigers. And for today’s Amur Tigers this added range will provide a buffer against further loss of genetic diversity, one which will maintain that diversity in the face of selective pressures that can only be experienced in the wild

Risk factors of postoperative prolonged ileus after colorectal cancer surgery

OBJECTIVE. The authors identified independent risk factors of postoperative prolonged ileus after colorectal cancer surgery. MATERIAL AND METHODS. Multivariate logit regression analysis was made in order to reveal independent risk factors of prolonged ileus. RESULTS. The frequency of prolonged ileus cases consisted of 13 %. The authors detected three independent risk factors such as body mass index higher than 25 kg/m² (p=0,033), taking of opioid analgetics (p=0,022) and left colon flexure mobilization (p=0,047) in multivariate statistical analysis. CONCLUSIONS. Postoperative prolonged ileus was the frequent complication in colorectal cancer surgery. There is a possibility to identify the group of patients who exposed to risk of occurrence of prolonged postoperative ileus due to application of revealed risk factors