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

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

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

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

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

The frequency of chromosome losses and gains in the fetal human tissues exhibiting chromosomal mosaicism confined to the fetal brain.

<p>Aneuploidy frequency involving chromosomes 1, 9, 15, 16, 17, 18, X and Y was determined by interphase mFISH, MCB and PRINS techniques. (A) demonstration of selective chromosome X and chromosome Y gains, (B) demonstration of selective chromosome 15 loss, (C) demonstration of selective chromosome X loss, and (D) demonstration of selective chromosome 18 loss.</p

Stochastic aneuploidy frequency (%) involving chromosome loss and gain and the average chromosome instability index (losses and gains summed per individual chromosome pair) in the human fetal brain

<p>Stochastic aneuploidy frequency (%) involving chromosome loss and gain and the average chromosome instability index (losses and gains summed per individual chromosome pair) in the human fetal brain</p

Molecular cytogenetic analysis of aneuploidy in the fetal human brain.

<p><b>(A to C)</b>. Interphase FISH with chromosome-enumeration DNA probes: (A) two nuclei characterized by additional chromosomes Y and X and a normal nucleus; (B) a nucleus with monosomy of chromosome 15 and a normal nucleus; (C) a nucleus with monosomy of chromosome 18 and a normal nucleus. (D to G) interphase chromosome-specific MCB: nuclei with monosomy, disomy, trisomy and G-banding ideograms with MCB color-code labeling of a chromosome (from left to right), (D) - chromosome 9, (E) - chromosome 16, and (F) - chromosome 18. (G) interphase QFISH: (1) a nucleus with two signals for chromosomes 18 (relative intensities: 2058 and 1772 pixels), (2) a nucleus with one paired signal mimics monosomy of chromosome 18 (relative intensity: 4012 pixels), (3) a nucleus with two signals for chromosomes 15 (relative intensities: 1562 and 1622 pixels), (4) a nucleus with one signal showing monosomy of chromosome 15 (relative intensity: 1678 pixels).</p