Ideas and perspectives: Development of nascent autotrophic carbon fixation systems in various redox conditions of the fluid degassing on early Earth

The origin and development of the primary autotrophic metabolism on early Earth were influenced by the two main regimes of degassing of the Earth – reducing (predominance CH4) and oxidative (CO2). Among the existing theories of the autotrophic origin of life in hydrothermal environments, CO2 is usually considered to be the carbon source for nascent autotrophic metabolism. However, the ancestral carbon used in metabolism may have been derived from CH4 if the outflow of magma fluid to the surface of the Earth consisted mainly of methane. In such an environment, the primary autotrophic metabolic systems had to be methanotrophic. Due to the absence of molecular oxygen in the Archean conditions, this metabolism would have been anaerobic; i.e., oxidation of methane must be realized by inorganic high-potential electron acceptors. In light of the primacy and prevalence of CH4-dependent metabolism in hydrothermal systems of the ancient Earth, we propose a model of carbon fixation where the methane is fixed or transformed in a sequence of reactions in an autocatalytic methane–fumarate cycle. Nitrogen oxides are thermodynamically the most favorable among possible oxidants of methane; however, even the activity of oxygen created by mineral buffers of iron in hydrothermal conditions is sufficient for methanotrophic acetogenesis. The hydrothermal system model is considered in the form of a phase diagram, which demonstrates the area of redox and P and T conditions favorable for the development of the primary methanotrophic metabolism.</p

<i>In silico</i> mapping of coronary artery disease genes

To date, more than 100 loci associated with coronary artery disease (CAD) have been detected in large-scale genome-wide studies. For some of the several hundreds of genes located in these loci, roles in the pathogenesis of the disease have been shown. However, the genetic mechanisms and specific genes controlling this disease are still not fully understood. This study is aimed at in silico search for new CAD genes. We performed a gene-based association analysis, where all polymorphic variants within a gene are analyzed simultaneously. The analysis was based on the results of the genome-wide association studies (GWAS) available from the open databases MICAD (120,575 people, 85,112 markers) and UK Biobank (337,199 people, 10,894,597 markers). We used the sumFREGAT package implementing a wide range of new methods for gene-based association analysis using summary statistics. We found 88 genes demonstrating significant gene-based associations. Forty-four of the identified genes were already known as CAD genes. Furthermore, we identified 28 additional genes in the known CAD loci. They can be considered as new candidate genes. Finally, we identified sixteen new genes (AGPAT4, ARHGEF12, BDP1, DHX58, EHBP1, FBF1, HSPB9, NPBWR2, PDLIM5, PLCB3, PLEKHM2, POU2F3, PRKD2, TMEM136, TTC29 and UTP20) outside the known loci. Information about the functional role of these genes allows us to consider many of them as candidates for CAD. The 41 identified genes did not have significant GWAS signals and they were identified only due to simultaneous consideration of all variants within the gene in the framework of gene-based analysis. These results demonstrate that gene-based association analysis is a powerful tool for gene mapping. The method can utilize huge amounts of GWAS results accumulated in the world to map different traits and diseases. This type of studies is widely available, as it does not require additional material costs

Case of combined nephropathy in a young child

The article presents a clinical case of combined nephropathy in a young child complicated by metabolic disorders with the development of urolithiasis.В статье представлен клинический случай сочетанной нефропатии у ребёнка раннего возраста, осложнённый метаболическими нарушениями с развитием мочекаменной болезни

Эмоциональные и личностные особенности восприятия боли у женщин при эндометриозе

Introduction. This article is devoted to psychological features in patients with pain syndrome in endometriosis and their pain perception.The objective of the study was to identify features of pain syndrome perception, personality traits, emotional features and satisfaction with quality of life in patients with endometriosis.Material and methods. 56 women were examined: 27 patients with endometriosis and 29 women without gynecological diseases. The following psychodiagnostic methods were used: «The McGill Pain Questionnaire», «Visual Analogue Scale», «Giessen test», the test of L. N. Sobchik «Diagnosis of interpersonal relationships», the questionnaire of N. E. Vodopyanova «Assessment of the level of satisfaction with the quality of life», «Hospital Anxiety and Depression Scale» (HADS).Results. The results of the study indicated that patients with painful forms of endometriosis were less satisfied with the quality of life in the field of health, emotional and physical comfort. The feminine type of gender-role behavior was identified in self-perception, and the responsibly-magnanimous style prevails in interpersonal relations. The perception of pain was interrelated with interpersonal behavior style.Conclusion. Psychological characteristics of patients with endometriosis must have been taken into account during treatment and rehabilitation, since they affected the subjective perception of pain, could reduce satisfaction with the quality of life and worsen the emotional state.Введение. Рассматриваются психологические особенности пациенток с болевым синдромом при эндометриозе, а также их связь с восприятием боли.Цель исследования – выявление особенностей восприятия болевого синдрома, а также личностных, эмоциональных особенностей и удовлетворенности качеством жизни у женщин с эндометриозом.Материал и методы. Всего обследованы 56 испытуемых: 27 женщин с эндометриозом и 29 женщин без гинекологической патологии. Использованные психодиагностические методики: Болевой опросник Мак-Гилла, визуальная аналоговая шкала боли, «Оценка уровня удовлетворенности качеством жизни» (в адаптации Н. Е. Водопьяновой), «Гиссенский личностный опросник», Метод диагностики межличностных отношений (ДМО Л. Н. Собчик), Госпитальная шкала тревоги и депрессии (HADS).Результаты. В результате исследования было выявлено, что для пациенток с болевой формой эндометриоза характерна меньшая удовлетворенность качеством жизни в сфере здоровья, эмоционального и физического комфорта. В восприятии себя наблюдается феминный тип поло-ролевого поведения, а в межличностных отношениях преобладает ответственно-великодушный стиль. Восприятие боли взаимосвязано со стилем поведения в межличностных отношениях.Выводы. При лечении и реабилитации пациенток с эндометриозом необходимо учитывать их психологические особенности, поскольку они оказывают влияние на субъективное восприятие болевого синдрома, могут снижать удовлетворенность качеством жизни и ухудшать эмоциональное состояние

Genome-wide association study and scan for signatures of selection point to candidate genes for body temperature maintenance under the cold stress in Siberian cattle populations

Design of new highly productive livestock breeds, well-adapted to local climatic conditions is one of the aims of modern agriculture and breeding. The genetics underlying economically important traits in cattle are widely studied, whereas our knowledge of the genetic mechanisms of adaptation to local environments is still scarce. To address this issue for cold climates we used an integrated approach for detecting genomic intervals related to body temperature maintenance under acute cold stress. Our approach combined genome-wide association studies (GWAS) and scans for signatures of selection applied to a cattle population (Hereford and Kazakh Whiteheaded beef breeds) bred in Siberia. We utilized the GGP HD150K DNA chip containing 139,376 single nucleotide polymorphism markers

Multivariate discovery and replication of five novel loci associated with Immunoglobulin G <i>N</i>-glycosylation

Multivariate analysis methods can uncover the relationship between phenotypic measures characterised by modern omic techniques. Here the authors conduct a multivariate GWAS on IgG N-glycosylation phenotypes and identify 5 novel loci enriched in immune system genes

Regional heritability mapping method helps explain missing heritability of blood lipid traits in isolated populations

Single single-nucleotide polymorphism (SNP) genome-wide association studies (SSGWAS) may fail to identify loci with modest effects on a trait. The recently developed regional heritability mapping (RHM) method can potentially identify such loci. In this study, RHM was compared with the SSGWAS for blood lipid traits (high-density lipoprotein (HDL), low-density lipoprotein (LDL), plasma concentrations of total cholesterol (TC) and triglycerides (TG)). Data comprised 2246 adults from isolated populations genotyped using ∼300 000 SNP arrays. The results were compared with large meta-analyses of these traits for validation. Using RHM, two significant regions affecting HDL on chromosomes 15 and 16 and one affecting LDL on chromosome 19 were identified. These regions covered the most significant SNPs associated with HDL and LDL from the meta-analysis. The chromosome 19 region was identified in our data despite the fact that the most significant SNP in the meta-analysis (or any SNP tagging it) was not genotyped in our SNP array. The SSGWAS identified one SNP associated with HDL on chromosome 16 (the top meta-analysis SNP) and one on chromosome 10 (not reported by RHM or in the meta-analysis and hence possibly a false positive association). The results further confirm that RHM can have better power than SSGWAS in detecting causal regions including regions containing crucial ungenotyped variants. This study suggests that RHM can be a useful tool to explain some of the ‘missing heritability' of complex trait variation

INVESTIGATION OF THE ESSENTIAL OIL OF EUROPEAN SPRUCE ROOTS (LAT. PICEA ABIES H. KARST, PINACEAE FAMILY)

The article is devoted to the study of essential oil extracted from the roots of European Spruce (Lat. Picea abies).The aim is to establish the component composition of the essential oil and the peculiarities of its localization in the roots of European Spruce.Materials and methods. The objects of the study are the roots of European Spruce not longer than two centimeters in diameter, peeled and dried. The study of their anatomical signs was carried out according to the methodology of the State Pharmacopoeia of the Russian Federation (the XIII-th edition) with the”Biomed-6” microscope using the DCN 510 nozzle. The essential oil was obtained by hydrodistillation of European Spruce roots using the device of Clevenger by Method 2 of the State Pharmacopoeia of the Russian Federation (the XIII-th edition). The component composition of the essential oil was determined by an Agilent 7890A gas-liquid chromatograph with an Agilent 5975C mass-selective detector.Results and discussion. As a result of the microscopic examination of the roots of European Spruce, it was established that the essential oil is localized mainly in resinous courses located in the wood of the root. In the central part of the root, resin moves are of a larger diameter. More than 18 components were found in the essential oil of European Spruce roots, 14 of them were identifi ed. The main component of the essential oil is sesquiterpene lactone – tanbergol.Conclusion. The essential oil of European Spruce roots has a unique component composition that includes components not characteristic for the essential oil of spruce greenery. The difference in the component composition indicates the difference in properties and pharmacological activity. Further studies are of interest for determining the prospects of using European Spruce roots

Emotional and personality traits of pain perception in women with pain syndrome in endometriosiss

Introduction. This article is devoted to psychological features in patients with pain syndrome in endometriosis and their pain perception.The objective of the study was to identify features of pain syndrome perception, personality traits, emotional features and satisfaction with quality of life in patients with endometriosis.Material and methods. 56 women were examined: 27 patients with endometriosis and 29 women without gynecological diseases. The following psychodiagnostic methods were used: «The McGill Pain Questionnaire», «Visual Analogue Scale», «Giessen test», the test of L. N. Sobchik «Diagnosis of interpersonal relationships», the questionnaire of N. E. Vodopyanova «Assessment of the level of satisfaction with the quality of life», «Hospital Anxiety and Depression Scale» (HADS).Results. The results of the study indicated that patients with painful forms of endometriosis were less satisfied with the quality of life in the field of health, emotional and physical comfort. The feminine type of gender-role behavior was identified in self-perception, and the responsibly-magnanimous style prevails in interpersonal relations. The perception of pain was interrelated with interpersonal behavior style.Conclusion. Psychological characteristics of patients with endometriosis must have been taken into account during treatment and rehabilitation, since they affected the subjective perception of pain, could reduce satisfaction with the quality of life and worsen the emotional state

Алгоритмы медиативной восстановительной работы территориальной службы примирения по сложным случаям

The article presents the experience of the Territorial Reconciliation Service of the Kemerovo Region in the development and testing of algorithms for mediation resolution of complex school and family situations of minors based on the principles of the restorative approach. For restorative work with multi-level conflicts in the escalation stage in educational organizations, as well as difficult life situations of minors and their families, registered in the juvenile affairs departments, special social technologies have been developed that have a comprehensive design and include various restorative programmes (restorative mediation, community circle, school-parent council, family group conference, family mediation). An analysis of the results of pilot empirical testing of the technologies developed by the authors shows their effectiveness in relation to complex school and family conflict situations. If there is special training in restorative technologies and an organizational structure uniting trained restorative practitioners (Territorial Reconciliation Service), these algorithms can be applied by specialists in the social sphere, education system, juvenile delinquency prevention and neglect systemВ статье представлен опыт Территориальной службы примирения Кемеровской области по разработке и апробации алгоритмов медиативного разрешения сложных школьных и семейных ситуаций несовершеннолетних на основе принципов восстановительного подхода. Для восстановительной работы с многоуровневыми конфликтами в стадии эскалации в образовательных организациях, а также с трудными жизненными ситуациями несовершеннолетних и их семей, состоящих на учете в отделениях по делам несовершеннолетних, были выработаны специальные социальные технологии, имеющие комплексный дизайн и включающие различные восстановительные программы (восстановительная медиация, круг сообщества, школьно-родительский совет, семейная групповая конференция, семейная медиация). Анализ результатов пилотной эмпирической апробации разработанных авторами технологий показывает их результативность в отношении сложных школьных и семейных конфликтных ситуаций. При наличии специальной подготовки по восстановительным технологиям и организационной структуры, объединяющей обученных восстановительных практиков (Территориальной службы примирения), данные алгоритмы могут применяться специалистами социальной сферы, системы образования, системы профилактики правонарушений и безнадзорности несовершеннолетни