37 research outputs found

    Possible neurological complications after carotid endarterectomy: causes and prevention methods

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    This is a joint research performed by neurologists and vascular surgeons. The aim of this study was to evaluate and compare our outcomes after carotid endarterectomy (CEA) at the vascular surgery department of the University Hospital in Ufa, Russia with the results in other hospitals in the world.Данная работа проведена совместно неврологами и сосудистыми хирургами. Цель настоящего исследования оценить и сравнить результаты каротидной эндартерэктомии (КЗАЗ) в сосудистом отделении клиники Башкирского государственного медицинского университета с мировыми показателям

    A role for diatom-like silicon transporters in calcifying coccolithophores

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    Biomineralization by marine phytoplankton, such as the silicifying diatoms and calcifying coccolithophores, plays an important role in carbon and nutrient cycling in the oceans. Silicification and calcification are distinct cellular processes with no known common mechanisms. It is thought that coccolithophores are able to outcompete diatoms in Si-depleted waters, which can contribute to the formation of coccolithophore blooms. Here we show that an expanded family of diatom-like silicon transporters (SITs) are present in both silicifying and calcifying haptophyte phytoplankton, including some globally important coccolithophores. Si is required for calcification in these coccolithophores, indicating that Si uptake contributes to the very different forms of biomineralization in diatoms and coccolithophores. Significantly, SITs and the requirement for Si are absent from highly abundant bloom-forming coccolithophores, such as Emiliania huxleyi. These very different requirements for Si in coccolithophores are likely to have major influence on their competitive interactions with diatoms and other siliceous phytoplankton

    СПЕКТР МУТАЦИЙ ГЕНА BRCA1 У БОЛЬНЫХ РАКОМ МОЛОЧНОЙ ЖЕЛЕЗЫ В МОЛОДОМ ВОЗРАСТЕ В РОССИИ

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    Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset  breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by  targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients  carried 5382insC mutation, described earlier as a founder mutation for Slavic population.  Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X,  4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with  unknown clinical significance were detected in BRCA1 gene among 445 early onset breast  cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were  obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.Цель исследования – оценить частоту встречаемости патогенных мутаций в BRCA1 гене у женщин с раком молочной железы, проживающих в России.Материал и методы. Проведён анализ полной кодирующей части гена BRCA1 у 445 больных раком молочной  железы на ранней стадии (возраст больных до 40 лет), проживающих в Новосибирской области (Россия), с  помощью метода таргетного секвенирования на платформе Ion Torrent. Результаты. Выявлено 40 (9 %)  носительниц различных патогенных мутаций. У 35 (7,9 %) пациенток обнаружена мутация 5382insC, описанная  ранее как «мутация-основателя» в славянской популяции. У 5 (1,1 %) пациенток были выявлены  другие различные патогенные мутации, а именно C61G, 462delCC, E143X, 4153delA и IVS18 + 1G> T. Кроме  того, 29 генетических вариантов с отсутствующей или неясной клинической значимостью были обнаружены в  гене BRCA1 у 445 больных раком молочной железы на ранней стадии. Выводы. Получены данные о частоте  генетических вариаций гена BRCA1 у больных раком молочной железы на ранней стадии, проживающих в  Новосибирской области (Россия). Доля мутации 5382insC составляет 87,5 % от всех патогенных мутаций в гене BRCA1, обнаруженных у пациенток

    Advanced technologies in diagnostics of viral diseases of unknown etiology

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    Unveiling origin of infectious diseases with unknown etiology is one of the major issues in contemporary medicine, since a laboratory-confirmed diagnosis may, unfortunately, be obtained solely in very few cases. Because the majority of the most common mid-latitude infections display a typical overt clinical picture, this problem has not been paid a proper attention until recently. Recent rise in incidence rate of infectious diseases lacking typical clinical signs observed lately makes it extremely important to consider the problem more closely. It is believed that such trend is due to a whole body of reasons, including impaired sanitary control, increased both internal and external migration flows, refusal of vaccination in case of long-lasting epidemic wellbeing, emergence of atypical bacterial strains of bacteria resulting from irrational antibiotic therapy etc. Viruses constitute the largest group of organisms on our planet accounting for them as the most common causative agent of infectious diseases of unknown etiology. Some estimates obtained by mathematical modeling propose that at least 320,000 types of viruses capable of infecting mammals may exist, most of which have not been described yet. Hence, monitoring circulation of the known viral pathogens, tracing down their spreading and changes in genome nucleotide sequence as well as revealing new types of viruses become important aspects of epidemiological surveillance necessary for timely response to emerging threats, prediction and early detection of outbreaks both in humans and animals. This review summarizes traditional molecular genetics methods for detection of viral pathogens, such as PCR, real-time PCR, Sanger sequencing with pre-cloning, and methods based on the second and third generation sequencing. Therefore, a more detailed overview was provided to diverse methods based on using such technologies because viral infectious agents investigated with high-throughput sequencing (or NGS - Next Generation Sequencing) has been increasingly appreciated as feasible for diagnostics, disease control, molecular epidemiology and infection control. Finally, a special attention was also paid to the approaches used to enrich the viral genetic material in samples containing low amount of pathogen nucleic acids

    Advanced engines for non-conventional kinematic chains in agriculture

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    To intensify agricultural production in the market environment, it is necessary to reconstruct the whole economic mechanism considering energy efficiency. This calls for the search of new ideas for alternative designs and engine types that can raise the performance of heat engines to a new level while keeping their use in vehicles, machinery, and small energy facilities feasible. One of the options is the displaced shaft rotary engine. This article analyses the kinematic and dynamic metrics of the engines of this type and presents the calculations of these metrics for the prototype. Key advantages and disadvantages of this type of engine in terms of working process dynamics are set out. It is also compared to the reciprocal internal combustion engine of the same structural dimensions

    The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia

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    Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset  breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by  targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients  carried 5382insC mutation, described earlier as a founder mutation for Slavic population.  Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X,  4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with  unknown clinical significance were detected in BRCA1 gene among 445 early onset breast  cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were  obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients
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