Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved

Dignity as a traditional value: International legal analysis

Background/Objectives: The term "dignity" is widely used in the texts of the international legal instruments, but international law has not developed its agreed definition. This concept of dignity is reflected in the first international human rights instruments. Methods/Statistical analysis: Analysis of international instruments on human rights shows that in the 20th century, the concept of dignity became the basis of human rights law. This is confirmed by the fact that, firstly, dignity is inherent to all members of the human family. Secondly, all human beings are free and equal in dignity and rights. And thirdly, these rights derive from the inherent dignity of the human person. That is why the better understanding of human dignity as a traditional value can boost promotion and fulfillment of human rights. Findings: The article deals with the concept of dignity from the standpoint of philosophy, Western Christianity and Russian Orthodoxy that contributed to the formulation of the concept of dignity, its definition and elements, and international law. Applications/Improvements: The centrality of human dignity in universal human rights texts can be explained by its core nature. It is fundamental and at the same time it seems uncontroversial enough to attract the entirety of the world community notwithstanding the diversity of morals, cultures, ethnicities, and religions that exist within the broad range of nations

Dignity as a traditional value: International legal analysis

Background/Objectives: The term "dignity" is widely used in the texts of the international legal instruments, but international law has not developed its agreed definition. This concept of dignity is reflected in the first international human rights instruments. Methods/Statistical analysis: Analysis of international instruments on human rights shows that in the 20th century, the concept of dignity became the basis of human rights law. This is confirmed by the fact that, firstly, dignity is inherent to all members of the human family. Secondly, all human beings are free and equal in dignity and rights. And thirdly, these rights derive from the inherent dignity of the human person. That is why the better understanding of human dignity as a traditional value can boost promotion and fulfillment of human rights. Findings: The article deals with the concept of dignity from the standpoint of philosophy, Western Christianity and Russian Orthodoxy that contributed to the formulation of the concept of dignity, its definition and elements, and international law. Applications/Improvements: The centrality of human dignity in universal human rights texts can be explained by its core nature. It is fundamental and at the same time it seems uncontroversial enough to attract the entirety of the world community notwithstanding the diversity of morals, cultures, ethnicities, and religions that exist within the broad range of nations

Biosorbents based on pine sawdust and malt sprouts for preconcentration and ICP-OES determination of nonferrous, heavy, and precious metals in the environmental samples

Pine sawdust and malt sprouts modified with orthophosphoric acid and carbamide have been proposed for solid-phase extraction (SPE) of nonferrous, heavy, and precious metals and their subsequent determination in the environmental samples by inductively coupled plasma optical emission spectrometry (ICP-OES). Modified adsorbents were characterized by SEM, TGA, and FT-IR and compared with native matrixes. SPE of some nonferrous and precious metal ions by biosorbents was studied. Depending on the SPE conditions, it was possible to separate nonferrous and heavy metals from alkali and alkaline earth metals. The proposed adsorbents are effective for preconcentration of nonferrous and heavy metals from natural waters and precious metals from solutions after digestion of geological samples. © 2018 Taylor & Francis

Biosorbents based on pine sawdust and malt sprouts for preconcentration and ICP-OES determination of nonferrous, heavy, and precious metals in the environmental samples

Pine sawdust and malt sprouts modified with orthophosphoric acid and carbamide have been proposed for solid-phase extraction (SPE) of nonferrous, heavy, and precious metals and their subsequent determination in the environmental samples by inductively coupled plasma optical emission spectrometry (ICP-OES). Modified adsorbents were characterized by SEM, TGA, and FT-IR and compared with native matrixes. SPE of some nonferrous and precious metal ions by biosorbents was studied. Depending on the SPE conditions, it was possible to separate nonferrous and heavy metals from alkali and alkaline earth metals. The proposed adsorbents are effective for preconcentration of nonferrous and heavy metals from natural waters and precious metals from solutions after digestion of geological samples. © 2018 Taylor & Francis

Neutrophil Activation by Mineral Microparticles Coated with Methylglyoxal-Glycated Albumin

Hyperglycemia-induced protein glycation and formation of advanced glycation end-products (AGEs) plays an important role in the pathogenesis of diabetic complications and pathological biomineralization. Receptors for AGEs (RAGEs) mediate the generation of reactive oxygen species (ROS) via activation of NADPH-oxidase. It is conceivable that binding of glycated proteins with biomineral particles composed mainly of calcium carbonate and/or phosphate enhances their neutrophil-activating capacity and hence their proinflammatory properties. Our research managed to confirm this hypothesis. Human serum albumin (HSA) was glycated with methylglyoxal (MG), and HSA-MG was adsorbed onto mineral microparticles composed of calcium carbonate nanocrystals (vaterite polymorph, CC) or hydroxyapatite nanowires (CP). As scopoletin fluorescence has shown, H2O2 generation by neutrophils stimulated with HSA-MG was inhibited with diphenyleneiodonium chloride, wortmannin, genistein and EDTA, indicating a key role for NADPH-oxidase, protein tyrosine kinase, phosphatidylinositol 3-kinase and divalent ions (presumably Ca2+) in HSA-MG-induced neutrophil respiratory burst. Superoxide anion generation assessed by lucigenin-enhanced chemiluminescence (Luc-CL) was significantly enhanced by free HSA-MG and by both CC-HSA-MG and CP-HSA-MG microparticles. Comparing the concentrations of CC-bound and free HSA-MG, one could see that adsorption enhanced the neutrophil-activating capacity of HSA-MG

Маммология

Основная цель краткого издания руководства - познакомить аудиторию с последними достижениями медицинской науки и практики в решении проблем заболеваемости молочной железы, базирующимися на междисциплинарной интеграции онкологии, рентгенорадиологии, гинекологии, технологий системной биологии, открывающей перспективы распознавания путей канцерогенеза и создающей возможности для адекватной и своевременной борьбы за снижение смертности от онкологических заболеваний. Одной из задач настоящего издания является повышение онконастороженности врачей в отношении рака молочной железы. В книге предложен эффективный алгоритм обследования пациенток с подозрением на рак молочной железы и выработки оптимального маршрута от врача, обнаружившего первые симптомы, до специалиста-онколога, занимающегося лечением, профилактикой и реабилитацией. В руководстве представлен также современный уровень диагностики и лечения доброкачественных заболеваний молочных желез консервативными средствами с использованием стационарозамещающих технологий. Издание предназначено врачам-онкологам, хирургам, радиотерапевтам, химиотерапевтам, генетикам, рентгенологам, специалистам по ультразвуковой диагностике, акушерам-гинекологам, патологоанатомам, врачам общей практики и другим специалистам, а также студентам, ординаторам и аспирантам медицинских вузов