43 research outputs found
Biochemical criteria for pulmonary surfactant damage in tuberculosis patients with previous work in dusty conditions
The aim of the work was to determine the role of biochemical criteria of pulmonary surfactant damage as early molecular markers of the sub-radiological stage of pneumoconiosis in pulmonary tuberculosis patients.Цель исследования – определить роль биохимических критериев повреждения легочного сурфактанта как ранних молекулярных маркеров субрентгенологической стадии пневмокониоза у больных туберкулезом легких
Chronic diseases of adults programmed in childhood
The conditions of human development during the stages of early ontogenesis are of great importance for human health throughout the rest of his life. The period of intrauterine development and childhood are vulnerable stages of organism formation, when metabolic processes have the greatest plasticity and can be subject to deformation. Exposure to a number of external factors during this period of time can have a significant impact on the functional activity of genes controlling neurotransmission, immune response, endocrine functions and, thus, program the spectrum of metabolic disorders that can lead later to the formation of chronic diseases: obesity, type 2 diabetes, atherosclerosis and diseases of cardiovascular system. Negative programming influence on the metabolic profile and cardiovascular risk is caused by such factors as maternal obesity, complicated pregnancy and childbirth, prematurity, early separation from the mother, violation of child feeding in the 1st year of life. The risk of early development of cardiovascular disease, metabolic syndrome, obesity and diabetes mellitus is significantly increased in individuals who have experienced traumatic stressors during childhood associated with economic disadvantage of the family, parental divorce, neglect, abuse, parental neglect, sexual violence, death of parents, family members, close friends, bullying in the children's community. An in-depth study of this problem, along with the development and organization of measures for monitoring and prevention, in the long term can reduce the burden of chronic non-infectious diseases, improve quality of life, reduce disability, incapacitation and mortality in the adult population.
Lysosomal acid lipase deficiency – an underestimated cause of hypercholesterolemia in children
Lysosomal acid lipase deficiency (LAL-D) is a rare, progressive, autosomal recessive disease, which develops due to impaired degradation and subsequent intra-lysosomal accumulation of triglycerides and cholesterol esters causing dyslipidemia. The clinical manifestations of the disease presumably depend on the residual activity of the enzyme, lysosomal acid lipase. A profound deficiency of the enzyme known as Wolman’s disease has an onset in the first 6 months of life. The disease reveals itself by dyspeptic disorders in the form of vomiting and diarrhea, lack of weight gain, hepatosplenomegaly, and adrenal calcification. If the Wolman’s disease is not treated, children die within the first 6 months as a result of exhaustion caused by malabsorption syndrome combined with progressive deterioration of liver and adrenal glands. Partial deficiency of lysosomal acid lipase manifests itself at a later age and is called cholesterol ester storage disease. Its clinical presentations include hepatosplenomegaly, elevated transaminases, hypercholesterolemia, and, in some cases, hypertriglyceridemia. Liver failure is the main cause of death in the natural course of cholesterol ester storage disease. Delayed diagnosis of the disease leads to its progression causing irreversible liver damage. The implementation of mass screening programs with the determination of cholesterol levels in childhood is critical to identifying asymptomatic patients.The article presents a clinical case of a patient aged 3 years. The molecular genetic testing showed a mutation in exon 8 of the LIPA gene: NM_000235.3:c.894G>A synonymous variant in the homozygous state. It was also found that both parents of the girl had this type of mutation in the heterozygous state. The patient was prescribed sebelipase alfa in a dose of 1 mg/kg once every 14 days. The treatment was well tolerated. Due to the early verification of the diagnosis and timely pathogenetic therapy, the prognosis of the course of LAL-D, the duration and quality of life of the child were considered to be favourable.Raising the awareness of doctors along with the introduction of effective screening programs for the timely detection of dyslipidemia in children contributes to timely diagnosis and early initiation of pathogenetic therapy, which can increase the life expectancy of patients with lysosomal acid lipase deficiency and improve their quality of life
Phenotypic diversity of bread wheat lines with introgressions from the diploid cereal Aegilops speltoides for technological properties of grain and f lour
The creation of varieties adapted to changing environmental conditions, resistant to various pathogens, and satisfying various grain purposes is impossible without using the genetic diversity of wheat. One of the ways to expand the genetic diversity of wheat is to introduce new variants of genes from the genetic pool of congeners and wild relatives into the genotypes of existing varieties. In this study, we used 10 lines from the Arsenal collection created on the genetic basis of the spring variety ‘Rodina’ and the diploid species Aegilops speltoides in the Federal Research Center “Nemchinovka” in 1994. The lines were previously characterized for the presence of translocations and chromosomal rearrangements cytologically and using molecular markers. Technological analyses were performed on grain obtained in Western Siberia and Moscow region. The aim of this study was to establish the possibilities of expanding the phenotypic diversity for technological properties of grain and flour as a result of such hybridization of bread wheat and the diploid cereal Aegilops speltoides. The variety ‘Rodina’ forms a vitreous grain with a high gluten content in Siberia, but has low physical properties of flour and dough. Five derived lines were found to have significantly higher protein and gluten content in grain. The highest values under both growing conditions were found in lines 73/00i, 82/00i, and 84/00i. Two lines (69/00i and 76/00i) showed a high flour strength and dough elasticity, characterizing the lines as strong and valuable in quality. These lines can be used for baking bread. Line 82/00i inherited from Ae. speltoides a soft-grain endosperm, which indicates the introgression of the Ha-Sp gene, homoeoallelic to the Ha gene of bread wheat, into ‘Rodina’. Flour of this line is suitable for the manufacture of confectionery without the use of technological additives. The lines generally retained their characteristics in different growing conditions. They can be attracted as donors of new alleles of genes that determine the technological properties of grain and resistance to biotic stresses
Interaction of genes determining the spike shape of wheat and located in 5AL chromosome
Spike parameters of hexaploid wheats from the genus Triticum L. are determined by the major genes and play an important role in systematics. Having a strong pleiotropic effect they are also have a practical importance. In this work, the interaction of the dominant genes QS and Q with the dominant gene C17648 determining a spike shape was investigated. The gene Q is situated in 5AL chromosome and determines the formation of elongated lax spike in the species T. spelta L. The homoeoallelic gene QS introgressed into bread wheat from Aegilops speltoides Tausch. and causing the formation of speltoid spike also situated in 5AL chromosome of the line 84/98w. The gene C17648 is analogous in the phenotypic manifestation to the gene C determining the formation of a dense short spike on a short culm like in T. compactum Host. It was mapped to 5AL chromosome in bread wheat line ANBW-5A and the donor of the gene was a mutant of durum wheat. In the present work, spike length, spikelet number, index of spike density and stem length were studied in F1 , F2 and F3 of three different hybrid populations. For the first time it was showed that the gene C17648 is epistatic to the dominant genes QS and Q. It was manifested in the formation of compact spike in F1 hybrids and in numerical prevalence of plants with a compact spike in F2 . At the same time, the gene C17648 showed a smaller effect on stem length and did not affected spikelet number. Using the genetic analysis it was found that the genes QS and Q are independently inherited from the gene C17648 but a substantial linkage was observed between QS or Q and b1 gene
Spiritual and moral education of students of pedagogical college by means of domestic vocal music of the Soviet period of the second half of the XX century
The relevance of the problem considered in the article is due to the fact that the priorities of state policy today lie in the field of improvement of spiritual and moral education of young people. Musical art has great opportunities in solving this problem, which appeals to the consciousness of a person through feelings, performs the role of an educator. The purpose of the article is to reveal the pedagogical potential of the national vocal music of the Soviet period of the second half of the 20th century in the spiritual and moral education of students of the pedagogical college and to consider methods that can be used by the teacher of musical disciplines for this purpose. The methodological basis of the study is: the theory of the polyfunctivity of music (V. N. Holopov), theoretical provisions on the pedagogical potential of musical art in the spiritual and moral formation of the younger generation (E. B. Abdullin, D. B. Kabalevsky, etc.). The following methods of research were used: study and analysis of literature, analysis and synthesis of pedagogical experience, experimental and search work, pedagogical observation. The scientific novelty is that the authors reveal the pedagogical potential of the national vocal music of the Soviet period in the spiritual and moral education of young people, which is that the music of this period contains such topics as citizenship, patriotism, the theme of man in war, the theme of love, friendship, etc. The practical significance of the results of the study is that the authors proposed a repertoire series of domestic vocal music of the Soviet period of the second half of the 20th century, which is divided into thematic blocks. The authors propose methods that the teacher can use to successfully develop the content of this musical material by college students. These are methods, cogitative operations of comparison, generalization, classification and structuring (methods of musical generalization, reflection about music, musical collections), the methods promoting “accommodation” by students of the artistic image put in the piece of music, their identification with heroes, situations (methods of empathy and emotional dramatic art) are the cornerstone of process of knowledge.Актуальность проблемы, рассматриваемой в статье, обусловлена тем, что приоритеты государственной политики сегодня лежат в области совершенствования духовно-нравственного воспитания молодежи. Большими возможностями в решении данной проблемы обладает музыкальное искусство, которое обращается к сознанию человека через чувства, выполняет роль воспитателя. Цель статьи – раскрыть педагогический потенциал отечественной вокальной музыки советского периода второй половины ХХ века в духовно-нравственном воспитании студентов педагогического колледжа и рассмотреть методы, которые для этого могут применяться преподавателем музыкальных дисциплин. Методологической основой исследования являются: теория полифункциональности музыки (В. Н. Холопова), теоретические положения о педагогическом потенциале музыкального искусства в духовно-нравственном становлении подрастающего поколения (Э. Б. Абдуллин, Д. Б. Кабалевский и др.). Использовались следующие методы исследования: изучение и анализ литературы, анализ и обобщение педагогического опыта, опытно-поисковая работа, педагогическое наблюдение. Научная новизна состоит в раскрытии возможностей использования методов музыкального образования в духовно-нравственном воспитании студентов колледжа средствами вокальной музыки советского периода, отражающей в художественно-образном содержании темы гражданственности, патриотизма, долга, любви, товарищества и т. д. Практическая значимость результатов исследования состоит в том, что авторами предложен репертуарный ряд отечественной вокальной музыки советского периода второй половины ХХ в., который разделен на тематические блоки. Авторами предложены методы, которые может применять преподаватель для успешного освоения студентами педагогического колледжа содержания данного музыкального материала. Это методы музыкального обобщения, размышления о музыке, музыкальных коллекций (данные методы предложены в связи с тем, что в основе процесса познания лежат мыслительные операции сравнения, обобщения, классификации и структурирования); методы, способствующие «проживанию» обучающимися художественного образа, заложенного в музыкальном произведении, их идентификации с героями, ситуациями (методы сопереживания и эмоциональной драматургии)
Подготовка кадров на кафедре биотехнологии и бионанотехнологии МИТХТ им. М.В. Ломоносова
Stages of formation of the modern system of training of highly-skilled biotechnological personnel - specialists, bachelors, masters, graduate and doctoral students - at the department of Biotechnology and bionanotechnology of M. V. Lomonosov Moscow State Academy of Fine Chemical Technology are reviewed. The scientific and methodological framework and methodology for biotechnology training were used in the development of the third generation of new State Educational Standards of Higher Professional Education in the direction 240700 Biotechnology (levels of training: bachelor and master).Рассмотрены этапы становления современной системы подготовки биотехнологических кадров - специалистов, бакалавров, магистров, аспирантов, докторантов - на кафедре Биотехнологии и бионанотехнологии МИТХТ им. М.В. Ломоносова. Разработанная научно-методическая база и методология подготовки биотехнологических кадров была использована при разработке новых ФГОС ВПО третьего поколения по направлению 240700 «Биотехнология» (уровни подготовки - бакалавр и магистр)
Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg)
The article provides review of possible mechanisms of inhibitor coagulopathies, in particular of acquired hemophilia A. This pathology is an extremely rare disease occurring in 1-2 cases in 1 million per year. In the present study we provide data for two clinical cases of hemophilia A in women. These cases had different development mechanisms, although both women have a newly discovered missense mutation His2026Arg in the VIII factor gene. The matter of main interest is the description of the disease development in the patient with an acquired idiopathic hemophilia A with a possible disease occurrence due to an asymmetric X-chromosome inactivation (lyonization). In this particular case lyonization led to the late manifestation of the hemophilia A carrier’s state and development of severe form of the inhibitor-associated acquired hemophilia A. We also discuss therapeutic approaches to these forms of the disease, considering there are no concise protocols for case management due to an extreme rarity of the pathology. Acquainting the clinical personnel working it the different areas of medicine with suchlike inhibitor coagulopathies has a major practical importance
Особенности суточного профиля артериального давления у здоровых детей в ходе адаптации к обучению в учебных учреждениях разного типа
Arterial hypertension in children is a serious socially important problem, because it holds a position within the top of cardiovascular diseases, beginning from the adolescent age. A timely start of preventive measures based on appropriate forecast assessment in children from risk groups will make it possible to reduce the disease burden in elder age groups. Research purpose. Based on comprehensive assessment of clinic-anamnestic, genealogic, psychologic data, peculiarities of daily profile of arterial tension in the course of adaptation to education in educational institutions, to characterize the markers and single out the factors associated with AT increase in children that are considered relatively healthy.Patients. On a voluntary basis, 199 children of 1–2 health groups were included in the research at the age of 10–12 years (11.3 ± 0.02 years) who had just started their education at a cadet educational institution or middle school. The children did not have any complaints by the time of the research, nor did they have the necessity of taking medicines which could have an effect on the cardiovascular system and acute infectious diseases during the previous month.Methods. The research was carried out during the period from September 2013 until May 2014 in 2 successive stages corresponding to the first and second academic terms. The examination included clinic-anamnestic and genealogic methods, anthropometry, three-fold measuring of arterial pressure by Korotkoff’s method, 24-hour ECG and AP monitoring, monitoring of motion activity volume, study of general and school levels of anxiety and psychic tension, assessment of the vegetative nervous system condition, nature of exercise tolerance and volume of additional sports load, volume of additional academic load.Results. The most important predictors of AH development and elevated AP persistence in children aged 10–12 years of 1 and 2 health groups are: values of SAP and/or DAP 90 and 95 percentile taking into account sex, age and height at one-shot measurements, the presence of AH in relatives within the immediate family, excessive (over 75 percent for this age and height) body weight and high (over 96 bpm) values of average day-time heart rate following results of HM. The previous data concerning a quick enough adaptation of children to increased daily loads was confirmed, including an authentic increase of motion activity volume within educational programs of cadet educational institutions.Актуальность. Артериальная гипертензия (АГ) является серьезной социально значимой проблемой, в том числе у детей, так как занимает одно из ведущих мест в структуре сердечно-сосудистой заболеваемости уже с подросткового возраста. Своевременное начало профилактики, основанное на адекватной оценке прогноза у детей из групп риска, позволит снизить заболеваемость у них в старшем возрасте.Цель исследования: охарактеризовать маркеры и выделить факторы, ассоциируемые с повышением АД у условно здоровых детей с учетом комплексной оценки клинико-анамнестических, генеалогических, психологических данных, особенностей суточного профиля артериального давления (АД) в ходе адаптации к обучению в учебных учреждениях кадетского и общеобразовательного типа.Пациенты и методы. В исследование на добровольной основе включены 199 детей 1–2-й групп здоровья в возрасте от 10 до 12 (11,3 ± 0,02) лет, впервые приступивших к обучению в учреждении кадетского образования или среднем звене общеобразовательной школы, не имеющих на момент исследования жалоб, необходимости приема лекарственных препаратов, влияющих на сердечно-сосудистую систему, а также острых инфекционных заболеваний в течение прошедшего месяца. Исследование проведено в период с сентября 2013 по май 2014 г. в два последовательных этапа, соответствующих первому и второму учебному полугодию. Обследование включало клинико-анамнестический и генеалогический методы, антропометрию, трехкратное измерение АД по методу Короткова, 24-часовое мониторирование электрокардиограммы и АД, регистрацию объема двигательной активности, исследование уровней общей и школьной тревожности и психического напряжения, оценку состояния вегетативной нервной системы, переносимости физической нагрузки, характера и объема дополнительной спортивной нагрузки, объема дополнительной учебной нагрузки.Результаты. Наиболее значимыми предикторами развития АГ и устойчивости повышенного АД у детей в возрасте 10–12 лет 1–2-й групп здоровья являются значения систолического и/или диастолического АД 90-го и 95-го перцентиля с учетом пола, возраста и роста при одномоментных измерениях; наличие АГ у родственников 1-й степени родства; избыточная масса тела (> 75-го перцентиля для данного возраста и роста) и высокие (> 96 уд/мин) значения средней дневной частоты сердечных сокращений по результатам холтеровского мониторирования. Подтверждены полученные ранее данные о достаточно быстрой адаптации детей к повышенным ежедневным нагрузкам, включая достоверное повышение объема двигательной активности, в пределах программ обучения учреждений кадетского образования
Biological and economic characteristics of the allotetraploid with genomic formula DDAuAu from the cereal family
The synthesis of new allopolyploid cereal genotypes is an important task aimed at involving new genetic resources in breeding programs. Diploid species of the genera Triticum and Aegilops – bread wheat relatives – are an important source of agronomically valuable traits. A tetraploid synthetic with genomic formula DDAuAu was obtained by N.A. Navruzbekov through crossing Aegilops tauschii Coss. and Triticum urartu Thum. ex Gandil. The purpose of this work was to study the chromosomal composition and biological and commercially important traits of the tetraploid. Cytogenetic analysis using fluorescent in situ hybridization showed the presence of all chromosomes of the D genome in the chromosomal complement of the synthetic. By means of stepwise vernalization, the winter habit was established for the tetraploid synthetic with the optimum vernalization requirement of 45 days. Under greenhouse conditions, two groups of genotypes were found whose flowering dates differed by 6.5 days, which may indicate an allelism at the Vrn-3 locus. The coloring of various organs of the tetraploid plant, such as coleoptile, stem, anthers, and glumes of the spike, was revealed. The coloration of the aleurone layer of the grain may indicate that the donor species T. urartu is a carrier of the Ba gene that controls its blue color. A new morphotype of leaf pubescence was found. In terms of productivity, the tetraploid is comparable to bread wheat. Grains are characterized by a supersoft structure and high wet gluten content, from 39–45 to 65 %, in the field and greenhouse conditions, respectively. Thus, the tetraploid can be used to create new wheat genotypes as a source of untapped genetic diversity, as well as a new genetic model for studying the patterns of evolution of polyploid plants