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  • image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/

    В работе приведены результаты исследований химического состава сырья, используемого при изготовлении холодных кулинарных блюд; рецептуры и технологии производства рыбных салатов; показана оптимизация пищевой ценности блюд с учетом физиологических норм потребления лицами от 18 до 29 лет; разработана информационно-технологическая матрица и система алгебраических уравнений, позволяющая определять состав продукции по заданным переменным. Представлена пищевая ценность разработанной продукции, определены органолептические показатели качества. The paper presents the results of studies of the chemical composition of raw materials used in the manufacture of cold culinary dishes; recipes and technologies for the production of fish salads; optimization of nutritional value of dishes is shown taking into account physiological norms of consumption by persons from 18 to 29 years old; An information technology matrix and a system of algebraic equations have been developed that allow one to determine the composition of products by given variables. The nutritional value of the developed products is presented, organoleptic quality indicators are determined.

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    Evolutionary development of the shelf and coastal area consists of a mosaic of geological, geomorphological, structural and tectonic factors and processes. The most difficult to understand the formation of the north-western Black Sea is to specify the highlights of the evolution of the paleogeographic environments, their timing and position determination Cimmerian and Kuyal’nitskogo sedimentary deposits in the history of development. Эволюционное развитие шельфа и прибрежной части складывается из мозаики геологических, геоморфологических, структурно-тектонических факторов и процессов. Наиболее сложным в понимании формирования северо-западного Причерноморья является конкретизация основных моментов эволюции палеогеографических обстановок, их временная характеристика и определение положения осадочных киммерийских и куяльницких отложений в истории развития. Еволюційний розвиток шельфу і прибережної частини складається з мозаїки геологічних, геоморфологічних, структурно-тектонічних факторів і процесів. Найбільш складним в розумінні формування північно-західного Причорномор’я є конкретизація основних моментів еволюції палеогеографічних обстановок, їх тимчасова характеристика і визначення положення осадових кіммерійських та куяльницьких відкладів в історії розвитку.

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    Authors: Alexander A. Cherkasov;

    The article is concerned with Sochi Posad transportation system development in early XX century. Special attention is attached to land and sea transport development.

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    Authors: Nadezda Shilova;

    Практические рекомендации (ПР) по обеспечению качества и надежности пренатальных и постнатальных цитогенетических исследований подготовлены рабочей группой Российского общества медицинских генетиков. Их основой послужили Европейские стандарты для цитогенетических и молекулярно-цитогенетических исследований конститутивных и приобретенных хромосомных аномалий, подготовленные постоянной рабочей группой Цитогенетики и общество Европейской цитогенетической ассоциации (Е.С.А.). ПР посвящены цитогенетической диагностике конститутивных нарушений, направлены на стандартизацию лабораторно-генетической службы и призваны способствовать совершенствованию цитогенетической службы РФ. В ПР рассматривают вопросы контроля качества и надежности цитогенетических и молекулярно-цитогенетических методов, используемых в цитогенетических лабораториях в настоящее время. The Working group of Russian Society of Medical Geneticists prepared these Recommendations based on General Guidelines and Quality Assurance for Cytogenetics: a common European framework for quality assessment for constitutional,acquired and molecular cytogenetic investigations (European Cytogeneticists Association (E.C.A.) Permanent Working Group for Cytogenetics and Society). This document is devoted to prenatal and postnatal (molecular) cytogenetic diagnosis of the constitutional chromosomal abnormalities, is aimed to define quality framework and to improve the activity of cytogenetic laboratories in Russian Federation. The Recommendations include aspects of quality control and safety for most of the methods currently employed by cytogenetic laboratories. №5 (2020)

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    Authors: F. E. Safarova; E. B. Shakarboev; U. A. Shakarbaev; F. D. Akramova; +1 Authors

    Objective of research: A study of the fauna and ecology of cercariae and metacercariae of the genus Diplostomum in the main reservoirs in the northeast of Uzbekistan. Materials and methods. This paper is based on the results of the study of the fauna and ecology of cercariae and metacercariae of the genus Diplostomum in the Syrdarya river basin (within Uzbekistan). Cercariae and metacercariae were investigated by the most common methods of trematodology. Results and discussion. The results of this study revealed that cercariae of the genus Diplostomum were found only in mollusks Lymnaea inhabiting different types of water bodies of the investigated region. Infestation of mollusks with parthenia and cercariae D. helveticum was observed in L. stagnalis - 1,5 %, L. auricularia - 1,3 %. The infection rate of cercariae D. spathaceum was in L. stagnalis, L. auricularia, L. peregra - 0,7 %, L. corvus - 0,5 %. The last species was described as a new host for D. spathaceum. Original data on the morphology and biology of cercariae D. helveticum and D. spathaceum developing in mollusks of the genus Lymnaea fauna in Uzbekistan, are presented. In the surveyed water bodies numerous species of Cypriniformes were infected with metacercariae of D. helveticum and D. spathaceum.

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    Authors: Baimukanov, M. T.;

    Исследования ихтиофауны оз. Имантау выявили очаг постодиплостомоза (Poslhodiplostomosis) в популяциях леща Abramis brama и плотвы Rutilus rutilus. Первый вид характеризуется многочисленностью, низким темпом роста, истощенностью и высокой степенью инвазии постодиплостомозом – экстенсивность доходит до 100%. В меньшей степени указанная инвазия затронула и оказала негативное воздействие на популяцию плотвы. С целью борьбы с эпизоотией, во избежание массовой гибели популяций рекомендуется мелиоративный отлов леща и плотвы и изъятие биомассы рыб, потерявших товарную ценность. Отсутствие промыслового рыболовства на оз. Имантау со дня образования национального парка (1996 г.) принесло отрицательный результат, т. к. большая численность леща – чужеродного вида в экосистеме водоема, ведет к развитию эпизоотии и тугорослости особей. Данное обстоятельство сдерживает развитие других, более ценных (в т. ч. и для развития любительского (спортивного) рыболовства) видов рыб аборигенной ихтиофауны, к примеру, линя, а также мешает натурализации карпа. The research of Imantau Lake fish fauna discovered a nidus of posthodiplostomosis in populations of bream Abramis brama and roach Rutilus rutilus. Bream of Imantau Lake shows multiplicity, low growth rate, atrophy and high degree of posthodiplostomosis invasion – up to 100%. The invasion affected and had a negative impact on the roach population to a smaller degree. Ameliorative bream and roach fishing is recommended to protect against epizootic, as well as to remove excessive biomass that lost market quality and to avoid the fish kill. The lack of commercial fishing in Imantau Lake since the time of National Park establishment in 1996 paid off negatively, as large numbers of bream: foreign species in the lake ecosystem – lead to epizootic and stunted fish. This circumstance prevents the population increase of others, more valuable (for development of sport fishery as well) fish species of local fish fauna, like tench, as well as acclimatization of carp.

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    Authors: Nadezda Shilova;

    Актуальность. Кольцевая хромосома 3 - редкая хромосомная аномалия, характеризующаяся выраженной вариабельностью фенотипических отклонений. Наиболее характерными проявлениями присутствия в кариотипе кольцевой хромосомы 3 являются пре- и постнатальная задержка роста, задержка психомоторного развития, микроцефалия и другие аномалии развития. Кольцевая структура может приводить к нарушению нормального расхождения хромосом при клеточном делении и вызывает митотическую нестабильность, приводящую к динамическому мозаицизму. В данном сообщении представлен случай митотической нестабильности кольцевой хромосомы 3 у ребенка с множественными пороками и аномалиями развития, демонстрирующий влияние вторичного хромосомного дисбаланса на степень выраженности фенотипических аномалий. Цель: исследование митотической нестабильности кольцевой хромосомы 3. Методы: FISH с ДНК-зондами на хромосому 3. Результаты. При стандартном цитогенетическом исследовании определен кариотип 46,XX,r(3)(p26q29). При FISH-анализе обнаружено наличие нескольких клонов клеток, содержащих различные варианты аномальных по структуре производных кольцевой хромосомы 3. Выводы. Присутствие кольцевых хромосом в геноме является причиной митотической нестабильности, что приводит к формированию соматического динамического мозаицизма. Соматический динамический мозаицизм, вследствие которого образуются клоны клеток с различным хромосомным дисбалансом, вносит существенный вклад в формирование аномального фенотипа. Ring chromosome 3 is a rare chromosomal abnormality with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features. The presence of a ring chromosome causes mitotic instability and often results in dynamic mosaicism with cells showing chromosomal or segmental aneuploidies and leading to various phenotypic consequences. We present a case of mitotic instability of ring chromosome 3 in a child with multiple malformations and developmental abnormalities. Aim: The investigation of ring chromosome 3 instability at mitosis. Methods: FISH with DNA probe on chromosome 3. Results: The karyotype of a child - 46,XX,r(3)(p26q29). FISH analysis revealed a mosaic clones derived from ring chromosome 3. Conclusions: The ring chromosomes are unstable at mitosis and lead to the formation of somatic dynamic mosaicism. Mitotic instability of ring chromosome 3 demonstrates the influence of secondary genetic imbalance on severity of symptoms in our patient. №9 (2020)

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    Authors: Rybak, Oleg; Huybrechts, Philippe;

    Two basic approaches exist for describing advection in the ice sheet model. We proceed with.comparing traditional Eulerian approach with a rather new in glaciological applications Lagrangian one. Particle tracing in the ice sheet is required to deal with such problems as detailed ice dating,establishing of isotopical cornposition, or distribution of any other conservative characteristic, which is advected with the ice flow. Within the frame of the Particle-in-Cell-(PlC) algorithm, a particle's trajectory is constructed by numerical interpolation as it moves through an evolving ice sheet within a regular 3D grid. The algorithm is conceptually straightforward, but demanding in terms of its practical implementation. The main advantage of the algorithm as compared to a pure Eulerian approach is that it is diffusion free, which makes it much more accurate in the lower part of the ice sheet. Application of PIC immediately yields the trajectories of the-particles, which is important for reconstruction of the flow peculiarities and the distribution of transported properties on isochronous surfaces. To implement it in the most effective way it is necessary to follow accurate balance between computational overhead and designed accuracy.

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    Authors: Nadezda Shilova;

    Геномная вариабельность является основой эволюции генома человека и включает в себя вариации последовательности ДНК и структурную вариабельность. К структурной вариабельности относят вариации числа копий участка ДНК (copy number variation - CNV), размером от 1000 п.н. до нескольких десятков млн п.н. Среди них выделяют субмикроскопические CNV размером от 1000 п.н. до 3 млн п.н., часть из которых является клинически значимой, то есть ассоциирована с задержкой психомоторного развития, врожденными пороками и/или аномалиями развития, а также заболеваниями аутистического спектра. Для анализа CNV используют широкий спектр методов с различной разрешающей способностью. В качестве универсального метода детекции субмикроскопических CNV в клинической практике используется хромосомный микроматричный анализ. Однако все чаще для анализа CNV используются методы высокопроизводительного секвенирования. Наряду с развитием полногеномных технологий, разрабатывается большое количество биоинформатических алгоритмов анализа CNV, имеющих разную эффективность. В связи с этим возрастает потребность в подтверждении полученных данных с целью исключения ложноположительных результатов. Кроме того, информации только о наличии или отсутствии CNV недостаточно для медико-генетического консультирования. Для оценки повторного риска хромосомной патологии необходимо определить структуру и происхождение обнаруженной CNV. С этой целью используются молекулярно-генетические и молекулярно-цитогенетические методы. Ряд молекулярно-генетических методов, основанных на использовании ПЦР, имеют разрешающую способность, достаточную для подтверждения субмикроскопических CNV. Молекулярно-цитогенетические методы включают в себя различные модификации метода флуоресцентной in situ гибридизации. Анализ субмикроскопических CNV с использованием FISH-метода ограничен длиной и спецификой фрагментов ДНК в зондах, используемых в традиционных протоколах исследования. Поэтому актуальным становится использование методов на основе in situ гибридизации с ДНК-зондами длиной порядка нескольких т.п.н., что позволяет не только подтвердить CNV и установить ее происхождение, но и определить структуру хромосомной перестройки, лежащей в основе хромосомного/геномного дисбаланса. В статье обсуждаются возможности, преимущества и недостатки различных методов, используемых для верификации клинически значимых CNV. Genomic variability is the basis of genetic diversity and evolution and includes sequence and structural variability. Structural variability refers to variations in the number of copies of DNA (copy number variations - CNVs), ranging from 1000 bp up to several megabases (Mb) in size. Among them, some submicroscopic CNVs up to 3 Mb, can lead to clinical signs such as developmental delay, intellectual disability, congenital malformations and/or dysmorphic features, as well as autism spectrum disorders. A wide range of methods with different resolution is used for CNVs analysis. To date, chromosomal microarray analysis (CMA) is a universal method for CNVs detection. However, with the advent methods of next-generation sequencing, their applicability for CNV analysis is increasingly being estimated. Therefore, with the development of genome-wide technologies and bioinformatic tools for CNV analysis, there is an increasing need to confirm the obtained data in order to establish the true values of their sensitivity and specificity. In addition, information only about localization and gene content of CNVs is not enough for genetic counseling for the family. It is necessary to define structure and origin of the detected CNV to assess accurate recurrence risk of chromosome imbalance. For this purpose, molecular genetics and molecular cytogenetic methods are used. There are some methods of molecular genetics based on PCR with sufficient resolution to confirm submicroscopic CNV longer than 1000 bp. Analysis of submicroscopic CNVs by various modifications of FISH-method is limited by the length and specificity of DNA fragments in probes used in conventional FISH-protocols. Therefore, application of DNA probes of the order of several kb in length becomes relevant. If both group of methods allow to confirm CNVs detected by wide-genome technologies, than the latter are used to estimate the structure of chromosomal imbalance. Possibilities, advantages and disadvantages of different methods for CNVs verification are discussed. №3 (2020)

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    В работе приведены результаты исследований химического состава рыбного сырья, образцов коптильного дыма, полученного из ольхи и разных видов плодовой древесины по содержанию коптильных компонентов, обеспечивающих высокое качество и безопасность готовой продукции. The paper presents the results of studies of the chemical composition of fish raw materials, samples of smoking smoke obtained from alder and various types of fruit wood in terms of the content of smoking components that ensure high quality and safety of the finished product.

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    В работе приведены результаты исследований химического состава сырья, используемого при изготовлении холодных кулинарных блюд; рецептуры и технологии производства рыбных салатов; показана оптимизация пищевой ценности блюд с учетом физиологических норм потребления лицами от 18 до 29 лет; разработана информационно-технологическая матрица и система алгебраических уравнений, позволяющая определять состав продукции по заданным переменным. Представлена пищевая ценность разработанной продукции, определены органолептические показатели качества. The paper presents the results of studies of the chemical composition of raw materials used in the manufacture of cold culinary dishes; recipes and technologies for the production of fish salads; optimization of nutritional value of dishes is shown taking into account physiological norms of consumption by persons from 18 to 29 years old; An information technology matrix and a system of algebraic equations have been developed that allow one to determine the composition of products by given variables. The nutritional value of the developed products is presented, organoleptic quality indicators are determined.

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    Evolutionary development of the shelf and coastal area consists of a mosaic of geological, geomorphological, structural and tectonic factors and processes. The most difficult to understand the formation of the north-western Black Sea is to specify the highlights of the evolution of the paleogeographic environments, their timing and position determination Cimmerian and Kuyal’nitskogo sedimentary deposits in the history of development. Эволюционное развитие шельфа и прибрежной части складывается из мозаики геологических, геоморфологических, структурно-тектонических факторов и процессов. Наиболее сложным в понимании формирования северо-западного Причерноморья является конкретизация основных моментов эволюции палеогеографических обстановок, их временная характеристика и определение положения осадочных киммерийских и куяльницких отложений в истории развития. Еволюційний розвиток шельфу і прибережної частини складається з мозаїки геологічних, геоморфологічних, структурно-тектонічних факторів і процесів. Найбільш складним в розумінні формування північно-західного Причорномор’я є конкретизація основних моментів еволюції палеогеографічних обстановок, їх тимчасова характеристика і визначення положення осадових кіммерійських та куяльницьких відкладів в історії розвитку.

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    Authors: Alexander A. Cherkasov;

    The article is concerned with Sochi Posad transportation system development in early XX century. Special attention is attached to land and sea transport development.

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    DOAJ
    Article . 2011
    Data sources: DOAJ
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      Article . 2011
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    Authors: Nadezda Shilova;

    Практические рекомендации (ПР) по обеспечению качества и надежности пренатальных и постнатальных цитогенетических исследований подготовлены рабочей группой Российского общества медицинских генетиков. Их основой послужили Европейские стандарты для цитогенетических и молекулярно-цитогенетических исследований конститутивных и приобретенных хромосомных аномалий, подготовленные постоянной рабочей группой Цитогенетики и общество Европейской цитогенетической ассоциации (Е.С.А.). ПР посвящены цитогенетической диагностике конститутивных нарушений, направлены на стандартизацию лабораторно-генетической службы и призваны способствовать совершенствованию цитогенетической службы РФ. В ПР рассматривают вопросы контроля качества и надежности цитогенетических и молекулярно-цитогенетических методов, используемых в цитогенетических лабораториях в настоящее время. The Working group of Russian Society of Medical Geneticists prepared these Recommendations based on General Guidelines and Quality Assurance for Cytogenetics: a common European framework for quality assessment for constitutional,acquired and molecular cytogenetic investigations (European Cytogeneticists Association (E.C.A.) Permanent Working Group for Cytogenetics and Society). This document is devoted to prenatal and postnatal (molecular) cytogenetic diagnosis of the constitutional chromosomal abnormalities, is aimed to define quality framework and to improve the activity of cytogenetic laboratories in Russian Federation. The Recommendations include aspects of quality control and safety for most of the methods currently employed by cytogenetic laboratories. №5 (2020)

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    Authors: F. E. Safarova; E. B. Shakarboev; U. A. Shakarbaev; F. D. Akramova; +1 Authors

    Objective of research: A study of the fauna and ecology of cercariae and metacercariae of the genus Diplostomum in the main reservoirs in the northeast of Uzbekistan. Materials and methods. This paper is based on the results of the study of the fauna and ecology of cercariae and metacercariae of the genus Diplostomum in the Syrdarya river basin (within Uzbekistan). Cercariae and metacercariae were investigated by the most common methods of trematodology. Results and discussion. The results of this study revealed that cercariae of the genus Diplostomum were found only in mollusks Lymnaea inhabiting different types of water bodies of the investigated region. Infestation of mollusks with parthenia and cercariae D. helveticum was observed in L. stagnalis - 1,5 %, L. auricularia - 1,3 %. The infection rate of cercariae D. spathaceum was in L. stagnalis, L. auricularia, L. peregra - 0,7 %, L. corvus - 0,5 %. The last species was described as a new host for D. spathaceum. Original data on the morphology and biology of cercariae D. helveticum and D. spathaceum developing in mollusks of the genus Lymnaea fauna in Uzbekistan, are presented. In the surveyed water bodies numerous species of Cypriniformes were infected with metacercariae of D. helveticum and D. spathaceum.

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    Authors: Baimukanov, M. T.;

    Исследования ихтиофауны оз. Имантау выявили очаг постодиплостомоза (Poslhodiplostomosis) в популяциях леща Abramis brama и плотвы Rutilus rutilus. Первый вид характеризуется многочисленностью, низким темпом роста, истощенностью и высокой степенью инвазии постодиплостомозом – экстенсивность доходит до 100%. В меньшей степени указанная инвазия затронула и оказала негативное воздействие на популяцию плотвы. С целью борьбы с эпизоотией, во избежание массовой гибели популяций рекомендуется мелиоративный отлов леща и плотвы и изъятие биомассы рыб, потерявших товарную ценность. Отсутствие промыслового рыболовства на оз. Имантау со дня образования национального парка (1996 г.) принесло отрицательный результат, т. к. большая численность леща – чужеродного вида в экосистеме водоема, ведет к развитию эпизоотии и тугорослости особей. Данное обстоятельство сдерживает развитие других, более ценных (в т. ч. и для развития любительского (спортивного) рыболовства) видов рыб аборигенной ихтиофауны, к примеру, линя, а также мешает натурализации карпа. The research of Imantau Lake fish fauna discovered a nidus of posthodiplostomosis in populations of bream Abramis brama and roach Rutilus rutilus. Bream of Imantau Lake shows multiplicity, low growth rate, atrophy and high degree of posthodiplostomosis invasion – up to 100%. The invasion affected and had a negative impact on the roach population to a smaller degree. Ameliorative bream and roach fishing is recommended to protect against epizootic, as well as to remove excessive biomass that lost market quality and to avoid the fish kill. The lack of commercial fishing in Imantau Lake since the time of National Park establishment in 1996 paid off negatively, as large numbers of bream: foreign species in the lake ecosystem – lead to epizootic and stunted fish. This circumstance prevents the population increase of others, more valuable (for development of sport fishery as well) fish species of local fish fauna, like tench, as well as acclimatization of carp.

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    Authors: Nadezda Shilova;

    Актуальность. Кольцевая хромосома 3 - редкая хромосомная аномалия, характеризующаяся выраженной вариабельностью фенотипических отклонений. Наиболее характерными проявлениями присутствия в кариотипе кольцевой хромосомы 3 являются пре- и постнатальная задержка роста, задержка психомоторного развития, микроцефалия и другие аномалии развития. Кольцевая структура может приводить к нарушению нормального расхождения хромосом при клеточном делении и вызывает митотическую нестабильность, приводящую к динамическому мозаицизму. В данном сообщении представлен случай митотической нестабильности кольцевой хромосомы 3 у ребенка с множественными пороками и аномалиями развития, демонстрирующий влияние вторичного хромосомного дисбаланса на степень выраженности фенотипических аномалий. Цель: исследование митотической нестабильности кольцевой хромосомы 3. Методы: FISH с ДНК-зондами на хромосому 3. Результаты. При стандартном цитогенетическом исследовании определен кариотип 46,XX,r(3)(p26q29). При FISH-анализе обнаружено наличие нескольких клонов клеток, содержащих различные варианты аномальных по структуре производных кольцевой хромосомы 3. Выводы. Присутствие кольцевых хромосом в геноме является причиной митотической нестабильности, что приводит к формированию соматического динамического мозаицизма. Соматический динамический мозаицизм, вследствие которого образуются клоны клеток с различным хромосомным дисбалансом, вносит существенный вклад в формирование аномального фенотипа. Ring chromosome 3 is a rare chromosomal abnormality with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features. The presence of a ring chromosome causes mitotic instability and often results in dynamic mosaicism with cells showing chromosomal or segmental aneuploidies and leading to various phenotypic consequences. We present a case of mitotic instability of ring chromosome 3 in a child with multiple malformations and developmental abnormalities. Aim: The investigation of ring chromosome 3 instability at mitosis. Methods: FISH with DNA probe on chromosome 3. Results: The karyotype of a child - 46,XX,r(3)(p26q29). FISH analysis revealed a mosaic clones derived from ring chromosome 3. Conclusions: The ring chromosomes are unstable at mitosis and lead to the formation of somatic dynamic mosaicism. Mitotic instability of ring chromosome 3 demonstrates the influence of secondary genetic imbalance on severity of symptoms in our patient. №9 (2020)

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    Authors: Rybak, Oleg; Huybrechts, Philippe;

    Two basic approaches exist for describing advection in the ice sheet model. We proceed with.comparing traditional Eulerian approach with a rather new in glaciological applications Lagrangian one. Particle tracing in the ice sheet is required to deal with such problems as detailed ice dating,establishing of isotopical cornposition, or distribution of any other conservative characteristic, which is advected with the ice flow. Within the frame of the Particle-in-Cell-(PlC) algorithm, a particle's trajectory is constructed by numerical interpolation as it moves through an evolving ice sheet within a regular 3D grid. The algorithm is conceptually straightforward, but demanding in terms of its practical implementation. The main advantage of the algorithm as compared to a pure Eulerian approach is that it is diffusion free, which makes it much more accurate in the lower part of the ice sheet. Application of PIC immediately yields the trajectories of the-particles, which is important for reconstruction of the flow peculiarities and the distribution of transported properties on isochronous surfaces. To implement it in the most effective way it is necessary to follow accurate balance between computational overhead and designed accuracy.

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    Authors: Nadezda Shilova;

    Геномная вариабельность является основой эволюции генома человека и включает в себя вариации последовательности ДНК и структурную вариабельность. К структурной вариабельности относят вариации числа копий участка ДНК (copy number variation - CNV), размером от 1000 п.н. до нескольких десятков млн п.н. Среди них выделяют субмикроскопические CNV размером от 1000 п.н. до 3 млн п.н., часть из которых является клинически значимой, то есть ассоциирована с задержкой психомоторного развития, врожденными пороками и/или аномалиями развития, а также заболеваниями аутистического спектра. Для анализа CNV используют широкий спектр методов с различной разрешающей способностью. В качестве универсального метода детекции субмикроскопических CNV в клинической практике используется хромосомный микроматричный анализ. Однако все чаще для анализа CNV используются методы высокопроизводительного секвенирования. Наряду с развитием полногеномных технологий, разрабатывается большое количество биоинформатических алгоритмов анализа CNV, имеющих разную эффективность. В связи с этим возрастает потребность в подтверждении полученных данных с целью исключения ложноположительных результатов. Кроме того, информации только о наличии или отсутствии CNV недостаточно для медико-генетического консультирования. Для оценки повторного риска хромосомной патологии необходимо определить структуру и происхождение обнаруженной CNV. С этой целью используются молекулярно-генетические и молекулярно-цитогенетические методы. Ряд молекулярно-генетических методов, основанных на использовании ПЦР, имеют разрешающую способность, достаточную для подтверждения субмикроскопических CNV. Молекулярно-цитогенетические методы включают в себя различные модификации метода флуоресцентной in situ гибридизации. Анализ субмикроскопических CNV с использованием FISH-метода ограничен длиной и спецификой фрагментов ДНК в зондах, используемых в традиционных протоколах исследования. Поэтому актуальным становится использование методов на основе in situ гибридизации с ДНК-зондами длиной порядка нескольких т.п.н., что позволяет не только подтвердить CNV и установить ее происхождение, но и определить структуру хромосомной перестройки, лежащей в основе хромосомного/геномного дисбаланса. В статье обсуждаются возможности, преимущества и недостатки различных методов, используемых для верификации клинически значимых CNV. Genomic variability is the basis of genetic diversity and evolution and includes sequence and structural variability. Structural variability refers to variations in the number of copies of DNA (copy number variations - CNVs), ranging from 1000 bp up to several megabases (Mb) in size. Among them, some submicroscopic CNVs up to 3 Mb, can lead to clinical signs such as developmental delay, intellectual disability, congenital malformations and/or dysmorphic features, as well as autism spectrum disorders. A wide range of methods with different resolution is used for CNVs analysis. To date, chromosomal microarray analysis (CMA) is a universal method for CNVs detection. However, with the advent methods of next-generation sequencing, their applicability for CNV analysis is increasingly being estimated. Therefore, with the development of genome-wide technologies and bioinformatic tools for CNV analysis, there is an increasing need to confirm the obtained data in order to establish the true values of their sensitivity and specificity. In addition, information only about localization and gene content of CNVs is not enough for genetic counseling for the family. It is necessary to define structure and origin of the detected CNV to assess accurate recurrence risk of chromosome imbalance. For this purpose, molecular genetics and molecular cytogenetic methods are used. There are some methods of molecular genetics based on PCR with sufficient resolution to confirm submicroscopic CNV longer than 1000 bp. Analysis of submicroscopic CNVs by various modifications of FISH-method is limited by the length and specificity of DNA fragments in probes used in conventional FISH-protocols. Therefore, application of DNA probes of the order of several kb in length becomes relevant. If both group of methods allow to confirm CNVs detected by wide-genome technologies, than the latter are used to estimate the structure of chromosomal imbalance. Possibilities, advantages and disadvantages of different methods for CNVs verification are discussed. №3 (2020)

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    В работе приведены результаты исследований химического состава рыбного сырья, образцов коптильного дыма, полученного из ольхи и разных видов плодовой древесины по содержанию коптильных компонентов, обеспечивающих высокое качество и безопасность готовой продукции. The paper presents the results of studies of the chemical composition of fish raw materials, samples of smoking smoke obtained from alder and various types of fruit wood in terms of the content of smoking components that ensure high quality and safety of the finished product.

    image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ Репозиторий Белорусс...arrow_drop_down
    image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
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