Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis

Our study provides data on the occurrence of KSM in neurodevelopmental disorders among males. Accordingly, it is proposed that KSM may be a possible element of pathogenic cascades in psychiatric and neurodegenerative diseases. These observations allowed us to extend the hypothesis proposed in our previous report on the contribution of somatic gonosomal mosaicism (Turner’s syndrome mosaicism) to the etiology of neurodevelopmental disorder

Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.g. cohorts of individuals with neurodevelopmental disorders). Here, we present the results of studying TSM in a large cohort of girls with neurodevelopmental disorders and a hypothesis highlighting the diagnostic and prognostic valu

DEVELOPMENT OF THE EXPERIMENTAL METHOD FOR THE ANALYSIS OF QUANTITATIVE CHARACTERISTICS OF THE TEXTURE AND ANISOTROPY OF PROPERTES OF GPU ALLOYS BY THE METHOD OF REVERSE POLE FIGURES

Разработка новых высокотехнологичных материалов для ракетно-космической и авиационной отраслей промышленности, атомной энергетики связана с созданием технологий, обеспечивающих получение требуемого комплекса технологических и эксплуатационных свойств изделий и конструкций. Широкое применение в этих отраслях промышленности нашли сплавы титана и циркония. Характерной особенностью этих сплавов является кристаллографическая текстура, которая практически полностью определяет анизотропию физико-механических свойств полуфабрикатов и изделий из них. Необходимость управления текстурообразованием обусловливает развитие методик, позволяющих проводить количественный анализ кристаллографических ориентировок.The development of new high-tech materials for the rocket and space and aviation industries, nuclear power is associated with the creation of technologies that ensure the required set of technological and operational properties of products. Alloys of titanium and zirconium were widely used in these industries. A characteristic feature of these alloys is the crystallographic texture. The need to control texture formation determines the development of techniques that allow for the quantitative analysis of crystallographic orientations

Developing food, water and energy nexus workflows

There is a growing recognition of the interdependencies among the supply systems that rely upon food, water and energy. Billions of people lack safe and sufficient access to these systems, coupled with a rapidly growing global demand and increasing resource constraints. Modeling frameworks are considered one of the few means available to understand the complex interrelationships among the sectors, however development of nexus related frameworks has been limited. We describe three open- source models well known in their respective domains (i.e. TerrSysMP, WOFOST and SWAT) where components of each if combined could help decision-makers address the nexus issue. We propose as a first step the development of simple workflows utilizing essential variables and addressing components of the above-mentioned models which can act as building-blocks to be used ultimately in a comprehensive nexus model framework. The outputs of the workflows and the model framework are designed to address the SDG

Aneuploidy and Confined Chromosomal Mosaicism in the Developing Human Brain

BACKGROUND: Understanding the mechanisms underlying generation of neuronal variability and complexity remains the central challenge for neuroscience. Structural variation in the neuronal genome is likely to be one important mechanism for neuronal diversity and brain diseases. Large-scale genomic variations due to loss or gain of whole chromosomes (aneuploidy) have been described in cells of the normal and diseased human brain, which are generated from neural stem cells during intrauterine period of life. However, the incidence of aneuploidy in the developing human brain and its impact on the brain development and function are obscure. METHODOLOGY/PRINCIPAL FINDINGS: To address genomic variation during development we surveyed aneuploidy/polyploidy in the human fetal tissues by advanced molecular-cytogenetic techniques at the single-cell level. Here we show that the human developing brain has mosaic nature, being composed of euploid and aneuploid neural cells. Studying over 600,000 neural cells, we have determined the average aneuploidy frequency as 1.25-1.45% per chromosome, with the overall percentage of aneuploidy tending to approach 30-35%. Furthermore, we found that mosaic aneuploidy can be exclusively confined to the brain. CONCLUSIONS/SIGNIFICANCE: Our data indicates aneuploidization to be an additional pathological mechanism for neuronal genome diversification. These findings highlight the involvement of aneuploidy in the human brain development and suggest an unexpected link between developmental chromosomal instability, intercellural/intertissular genome diversity and human brain diseases

Comparison of biophysical and satellite predictors for wheat yield forecasting in Ukraine

Winter wheat crop yield forecasting at national, regional and local scales is an extremely important task. This paper aims at assessing the efficiency (in terms of prediction error minimization) of satellite and biophysical model based predictors assimilation into winter wheat crop yield forecasting models at different scales (region, county and field) for one of the regions in central part of Ukraine. Vegetation index NDVI, as well as different biophysical parameters (LAI and fAPAR) derived from satellite data and WOFOST crop growth model are considered as predictors of winter wheat crop yield forecasting model. Due to very short time series of reliable statistics (since 2000) we consider single factor linear regression. It is shown that biophysical parameters (fAPAR and LAI) are more preferable to be used as predictors in crop yield forecasting regression models at each scale. Correspondent models possess much better statistical properties and are more reliable than NDVI based model. The most accurate result in current study has been obtained for LAI values derived from SPOT-VGT (at 1 km resolution) on county level. At field level, a regression model based on satellite derived LAI significantly outperforms the one based on LAI simulated with WOFOST

The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies

The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytogenetic and molecular cytogenetic diagnosis, and also clinical polymorphism of the syndrome. The authors established the necessity of molecular cytogenetic technologies in the diagnosis of different forms of the syndrome, including mosaic forms and isodicentric chromosomes-connected forms. The severity of clinical symptoms doesn’t depend on presence of regular or mosaic forms of the syndrome. The study assumes a possible connection of clinical polymorphism with mosaisism, associated with the presence of abnormal cells (cell lines) in different tissues, together with the role of Y chromosome in the origin of mental retardation in children with Y- chromosome disomy syndrome and other chromosomal anomalies. The authors underline the necessity of molecular cytogenetic diagnosis of different forms of the syndrome for correct medical and genetic consultation