11 research outputs found
Development of an Experimental Reactor VVER-SKD 30 MW on Supercritical Water
The results of neutron-physical calculations of various variants of the location of the VVER-SKD core of 30 MW on the water of supercritical parameters are considered. The calculation is made for various fuel loads: uranium, plutonium and thorium, which in the future is considered as one of the main energy resources of the nuclear industry. Studies show that it is advisable to design a reactor with a single-pass flow of coolant and a reflector of at least 20 cm
Characteristics of Early-Onset vs Late-Onset Colorectal Cancer: A Review.
The incidence of early-onset colorectal cancer (younger than 50 years) is rising globally, the reasons for which are unclear. It appears to represent a unique disease process with different clinical, pathological, and molecular characteristics compared with late-onset colorectal cancer. Data on oncological outcomes are limited, and sensitivity to conventional neoadjuvant and adjuvant therapy regimens appear to be unknown. The purpose of this review is to summarize the available literature on early-onset colorectal cancer.
Within the next decade, it is estimated that 1 in 10 colon cancers and 1 in 4 rectal cancers will be diagnosed in adults younger than 50 years. Potential risk factors include a Westernized diet, obesity, antibiotic usage, and alterations in the gut microbiome. Although genetic predisposition plays a role, most cases are sporadic. The full spectrum of germline and somatic sequence variations implicated remains unknown. Younger patients typically present with descending colonic or rectal cancer, advanced disease stage, and unfavorable histopathological features. Despite being more likely to receive neoadjuvant and adjuvant therapy, patients with early-onset disease demonstrate comparable oncological outcomes with their older counterparts.
The clinicopathological features, underlying molecular profiles, and drivers of early-onset colorectal cancer differ from those of late-onset disease. Standardized, age-specific preventive, screening, diagnostic, and therapeutic strategies are required to optimize outcomes
Didactic frame compression principle in students training content
The relevance of the study is determined by the search for effective solutions in the transformation of the university students' education content, which is determined by large information blocks, structures and a set of invariant, author, and multivariate courses that often duplicate each other and, thereby, impede their assimilation. The importance and universality of the didactic frame in the synthesis of knowledge elements integral system, in the educational information transformation in the teaching content, in the transformation of verbal information into non-verbal information, in the creation of innovative, symbolic and symbolic structural diagrams of its presentation to students are determined in the article. The authors reveal the functional essence of the didactic frame as a pedagogical category the structure and content of the didactic frame basic models (frame - concept and frame - scenario), adapted to the university students training content. The practical importance of compression principle implementation in the student training content projecting is proved. © 2017
Didactic frame compression principle in students training content
The relevance of the study is determined by the search for effective solutions in the transformation of the university students' education content, which is determined by large information blocks, structures and a set of invariant, author, and multivariate courses that often duplicate each other and, thereby, impede their assimilation. The importance and universality of the didactic frame in the synthesis of knowledge elements integral system, in the educational information transformation in the teaching content, in the transformation of verbal information into non-verbal information, in the creation of innovative, symbolic and symbolic structural diagrams of its presentation to students are determined in the article. The authors reveal the functional essence of the didactic frame as a pedagogical category the structure and content of the didactic frame basic models (frame - concept and frame - scenario), adapted to the university students training content. The practical importance of compression principle implementation in the student training content projecting is proved. © 2017
Алгоритм молекулярно-генетического обследования для выявления наследственного BRCA-ассоциированного рака молочной железы
Background: About 30% of cases of hereditary breast cancer (BC) are associated with the BRCA1 and BRCA2 gene mutations. The absence of the programs of mandatory genetic screening for hereditary BRCA-associated BC in Russia, as well as of an algorithm for molecular genetic testing does not allow fully accomplishing the necessary preventive, diagnostic and medical measures.Aim: To elaborate an algorithm for molecular genetic testing of BC patients in order to improve the efficacy of identification of the hereditary nature of the disease.Materials and methods: The study is based on the analysis of the results of molecular genetic testing of 3826 BC patients aged from 22 to 90 years, who were examined and treated in the Russian Research Center of Roentgenoradiology (Moscow) from 2010 to 2016. At the first stage of the study, germinal mutation in the BRCA1 and BRCA2 genes prevalent in the Russian population were identified by the real-time polymerase chain reaction (PCR). At the second stage, we searched for rare genetic variants of these genes by the ‘next generation sequencing’ (NGS) method.Results: The real-time PCR (the first stage) showed that the prevalence of the most typical for the Russian population mutations in the BRCA1 gene, associated with BC risk, was 3.5% (132/3826 BC patients). No carriers of the BRCA2 mutations were identified. Based on the analysis of a questionnaire survey and primary medical documentation, a group of 717 patients was selected from the total cohort, who had clinical features of the hereditary disease (CFHD). In this group, the BRCA1 and BRCA2 gene mutations were found in 126 patients (17.6%). At the second stage, a group of 193 patients with CFHD and no BRCA1 and BRCA2 mutations prevalent in the Russian population was investigated by NGS. Rare pathogenic mutations of these genes were found in 27 patients (14%). In total, it may be concluded that at least 30% of the BC patients with CFHD have germinal mutations in the BRCA1 and BRCA2 genes. Based on the data obtained, we have developed the algorithm of molecular genetic testing of BC patients aimed at identification of the hereditary nature of the disease.Conclusion: The high frequency of mutations in the BRCA1 and BRCA2 genes found in this study in BC patients with CFHD confirms the necessity of genetic testing for this hereditary disease. The information on its hereditary nature allows for the introduction of essential therapy modification with a personalized approach. Regular follow-up of patients with hereditary BC and prevention of new BC cases and other cancers (ovarian, gastric, pancreatic and prostate cancer, as well as melanoma) in their relatives with BRCA1 and BRCA2 mutations have to be implemented by a multidisciplinary team (specialists in mammology, gynecology, oncology, medical genetics, chemotherapy and psychotherapy). Актуальность. Около 30% случаев наследственного рака молочной железы (РМЖ) обусловлено мутациями в генах BRCA1 и BRCA2. Отсутствие в России программ обязательного генетического скрининга наследственного BRCA-ассоциированного РМЖ, а также алгоритма молекулярно-генетического обследования не позволяет в полной мере проводить необходимые профилактические, диагностические и лечебные мероприятия.Цель – разработка алгоритма молекулярно-генетического обследования больных РМЖ для повышения эффективности выявления наследственного характера заболевания.Материал и методы. Работа основана на анализе результатов молекулярно-генетического тестирования 3826 больных РМЖ в возрасте от 22 до 90 лет, которые проходили обследование и лечение в ФГБУ «РНЦРР» Минздрава России в период с 2010 по 2016 г. На первом этапе с помощью метода полимеразной цепной реакции (ПЦР) в режиме реального времени определяли распространенные в российской популяции герминальные мутации в генах BRCA1 и BRCA2, на втором этапе методом секвенирования «нового поколения» (англ. next generation sequencing – NGS) осуществляли поиск редких генетических вариантов в этих генах.Результаты. Исследование методом ПЦР в режиме реального времени (первый этап) показало: частота наиболее характерных для российской популяции мутаций в гене BRCA1, ассоциированных с риском развития РМЖ, составила 3,5% (132 из 3826 пациентов с РМЖ); ни одного носителя мутаций в гене BRCA2 не выявлено. На основании анализа данных анкетирования и первичной медицинской документации из общей когорты обследованных была сформирована группа из 717 человек, в которую вошли пациенты с клиническими признаками наследственного заболевания (КПНЗ). В этой группе мутации в генах BRCA1 и BRCA2 были выявлены у 126 человек, что составило 17,6%. На втором этапе методом NGS в группе из 193 больных РМЖ с КПНЗ и отсутствием характерных для российской популяции мутаций в генах BRCA1 и BRCA2 были найдены редкие патогенные мутации в этих генах у 27 человек, то есть у 14%. Суммируя полученные данные, можно заключить, что не менее 30% больных РМЖ с КПНЗ имеют наследственные мутации в генах BRCA1 и BRCA2. На основании полученных данных разработан алгоритм молекулярно-генетического обследования больных РМЖ для выявления наследственного характера заболевания.Заключение. Выявленная в настоящей работе высокая частота мутаций в генах BRCA1 и BRCA2 у больных РМЖ с КПНЗ подтверждает необходимость генетического тестирования наследственного заболевания. Информация о наследственном характере заболевания позволит вносить существенные изменения в тактику проводимого лечения, применяя персонифицированный подход. Динамическое наблюдение пациентов с наследственным РМЖ и профилактика возникновения новых случаев РМЖ и других онкологических заболеваний (рак яичника, желудка, поджелудочной железы, предстательной железы, меланомы) у их родственников – носителей мутаций в генах BRCA1и BRCA2 – должны осуществляться мультидисциплинарной командой (маммологи, гинекологи, онкологи, медицинские генетики, химиотерапевты, психотерапевты).