Complex trait susceptibilities and population diversity in a sample of 4,145 Russians.

The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and geographic origins, which extend from eastern Europe to Asia, make the population uniquely positioned to investigate the shared properties of inherited disease risks between European and Asian ancestries. We present the analysis of genetic and phenotypic data from a cohort of 4,145 individuals collected in three metro areas in western Russia.

Gene Mutations: Implications for Hereditary Cancer Syndromes.

Malignant neoplasms, including pancreatic cancer and melanoma, are major global health challenges. This study investigates melanoma pancreatic syndrome, a rare hereditary tumor syndrome associated with gene mutations. mutations contribute to a lifetime risk of melanoma ranging from 28% to 67%.

Unraveling the phase diagram-ion transport relationship in aqueous electrolyte solutions and correlating conductivity with concentration and temperature by semi-empirical modeling.

The relationship between structure and ion transport in liquid electrolyte solutions is not well understood over the whole concentration and temperature ranges. In this work, we have studied the ionic conductivity (κ) as a function of molar fraction (x) and Temperature (T) for aqueous solutions of salts with nitrate anion and different cations (proton, lithium, calcium, and ammonium) along with their liquid-solid phase diagrams. The connection between the known features in the phase diagrams and the ionic conductivity isotherms is established with an insight on the conductivity mechanism.

The Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

More than 275 million people in the world are carriers of a heterozygous mutation of the gene, associated with cystic fibrosis, the most common autosomal recessive disease among Caucasians. Some recent studies assessed the association between carriers of variants and some pathologies, including cancer risk. The aim of this study is to analyze the landscape of germline pathogenic heterozygous variants in patients with diagnosed malignant neoplasms.

Real-Time Convolutional Voltammetry Enhanced by Energetic (Hot) Electrons and Holes on a Surface Plasmon Waveguide Electrode.

Surface plasmon polaritons (SPPs) propagating along a waveguide working electrode are sensitive to changes in the local refractive index, which follow changes in the concentration of reduced and oxidized species near the working electrode. The real-time response of the output optical power from a waveguide working electrode is proportional to the time convolution of the electrochemical current density, precluding the need to compute the latter a posteriori via numerical integration. Convolutional voltammetry yields complementary results to conventional voltammetry and can be used to determine the diffusion constant, bulk concentration, and the number of transferred electrons of electroactive species.

Engineered interfaces between perovskite LaLiTiO electrolyte and Li metal for solid-state batteries.

Perovskite LaLiTiO (LLTO) materials are promising solid-state electrolytes for lithium metal batteries (LMBs) due to their intrinsic fire-resistance, high bulk ionic conductivity, and wide electrochemical window. However, their commercialization is hampered by high interfacial resistance, dendrite formation, and instability against Li metal. To address these challenges, we first prepared highly dense LLTO pellets with enhanced microstructure and high bulk ionic conductivity of S cm at room temperature.

A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome.

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature. Materials and Methods: We describe a 23-year-old male patient with autism spectrum disorder (ASD) who was admitted to the gastroenterological hospital with signs of pseudomembranous colitis.

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.

Background: A fast adoption of a non-invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study-to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow.

Infrared surface plasmons on a Au waveguide electrode open new redox channels associated with the transfer of energetic carriers.

Plasmonic catalysis holds promise for opening new reaction pathways inaccessible thermally or for improving the efficiency of chemical processes. We report a gold stripe waveguide along which infrared (λ ~ 1350 nanometers) surface plasmon polaritons (SPPs) propagate, operating simultaneously as an electrochemical working electrode. Cyclic voltammograms obtained under SPP excitation enable oxidative processes involving energetic holes to be investigated separately from reductive processes involving energetic electrons.

Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries.

Purpose: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally.

Methods: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gathered in 15 languages. We analyzed how participants responded when asked whether return of results (RoR) would motivate their decision to donate DNA or health data.

ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease.

Background: Recent studies have focused on the potential role of epicardial adipose tissue (EAT) in the development of coronary artery disease (CAD). ABCA1 and ABCG1 transporters regulate cell cholesterol content and reverse cholesterol transport. We aimed to determine whether DNA methylation and mRNA levels of the ABCA1 and ABCG1 genes in EAT and subcutaneous adipose tissue (SAT) were associated with CAD.

FABP4 and omentin-1 gene expression in epicardial adipose tissue from coronary artery disease patients.

Omentin-1 and fatty acid-binding protein 4 (FABP4) are adipose tissue adipokines linked to obesity-associated cardiovascular complications. The aim of this study was to investigate epicardial adipose tissue (EAT) omentin-1 and FABP4 gene expression in obese and non-obese patients with coronary artery disease (CAD). Omentin-1 and FABP4 mRNA levels in EAT and paired subcutaneous adipose tissue (SAT) as well as adipokine serum concentrations were assessed in 77 individuals (61 with CAD; 16 without CAD (NCAD)).

Physical Activity Is Associated With Sleep Quality: Results of the ESSE-RF Epidemiological Study.

Background And Hypothesis: Physical activity (PA) is an important behavioral factor associated with the quality of life and healthy longevity. We hypothesize that extremely low and extremely high levels of daily PA (including occupational PA) may have a negative impact on sleep quality and psychological well-being.

Objective: The aim of the study is to investigate the association between the level and type of PA and sleep problems in adult population.

Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries.

Background: Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this.

[Hereditary cancer syndromes: a modern paradigm].

About 5-10% of malignant neoplasms (MN) are hereditary. Carriers of mutations associated with hereditary tumor syndromes (HTS) are at high risk of developing tumors in childhood and young age and synchronous and metachronous multiple tumors. At the same time, this group of diseases remains mainly an oncological problem, and clinical decisions are made only when MNs are detected in carriers of pathogenic mutations.

Synthesis of SrTiO submicron cubes with simultaneous and competitive photocatalytic activity for HO splitting and CO reduction.

Single crystalline strontium titanate (SrTiO) submicron cubes have been synthesized based on a molten salt method. The submicron cubes showed superior photocatalytic activity towards both water splitting and carbon dioxide reduction, in which methane (CH) and hydrogen (H) were simultaneously produced. The average production rate of methane up to 8 h is 4.

Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?

Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison.

Demystifying the Atomistic Origin of the Electric Field Effect on Methane Oxidation.

Understanding the role of an electric field on the surface of a catalyst is crucial in tuning and promoting the catalytic activity of metals. Herein, we evaluate the oxidation of methane over a Pt surface with varying oxygen coverage using density functional theory. The latter is controlled by the electrode polarization, giving rise to the non-Faradaic modification of catalytic activity phenomenon.

Galectin-3, N-terminal Propeptides of Type I and III Procollagen in Patients with Atrial Fibrillation and Metabolic Syndrome.

The aim of this study was to determine the concentration of galectin-3, PINP and PIIINP in patients with metabolic syndrome (MS) and atrial fibrillation (AF) with an assessment of the relationship with severity of left atrium fibrosis. A total of 480 subjects were included in the case-control study: MS patients ( = 337), 176 of whom had AF, 72 patients with AF without MS and 71 healthy subjects. Galectin-3, PINP and PIIINP blood concentrations and metabolic parameters were compared with the severity of left atrium fibrosis, measured by CARTO3.

Single particle inductively coupled plasma mass spectrometry with and without flow injection for the characterization of nickel nanoparticles.

This work compares the performance of transmission electron microscopy (TEM), scanning electron microscopy (SEM), X-ray diffraction (XRD), single particle inductively coupled plasma mass spectrometry (spICPMS) and flow injection (FI) coupled to spICPMS for the characterization of synthetic ferromagnetic Ni nanoparticles (NPs) prepared with and without polyvinylpyrrolidone (PVP) stabilizer. Whereas single NPs measurement by XRD yielded nominal diameters of 13.7 and 16.

Modification of Nickel Surfaces by Bismuth: Effect on Electrochemical Activity and Selectivity toward Glycerol.

Herein, we study the effect of adding bismuth to Ni-nanostructured catalysts (NiBi, = 100-90 at. %) for glycerol electro-oxidation in alkaline solution by combining physiochemical, electrochemical, and infrared spectroscopy techniques, as well as continuous electrolysis with HPLC (high-performance liquid chromatography) product analysis. The addition of small quantities of Bi (<20 at.

FKB327, an adalimumab biosimilar, versus the reference product: results of a randomized, Phase III, double-blind study, and its open-label extension.

Objective: To compare the efficacy, serum drug concentrations, immunogenicity, and safety of FKB327 with the adalimumab reference product (RP) in combination with methotrexate in patients with moderate-to-severe, active rheumatoid arthritis (RA).

Methods: Patients were randomized 1:1 in a double-blind study (NCT02260791), received 40 mg of FKB327 or RP by subcutaneous injection every other week for 24 weeks (Period I), then re-randomized 2:1, remaining on the same study drug or switching to the other up to week 54 in an open-label extension (Period II, NCT02405780). Efficacy was evaluated using American College of Rheumatology (ACR20) response rate difference at week 24 with equivalence margins of ± 13% and - 12% to + 15% using 95% and 90% confidence intervals (CIs), respectively.

The utility of polarization modulation infrared reflection absorption spectroscopy (PM-IRRAS) in surface and in situ studies: new data processing and presentation approach.

Infrared spectroscopy is a powerful non-destructive technique for the identification and quantification of organic molecules widely used in scientific studies. For many years, efforts have been made to adopt this technique for the in situ monitoring of reactions. From these efforts, polarization modulation infrared reflection absorption spectroscopy (PM-IRRAS) was developed three decades ago.

Metabolically healthy obese and metabolically unhealthy non-obese phenotypes in a Russian population.

Introduction: The aim of the study was to estimate the prevalence of metabolically healthy obese (MHO) and metabolically unhealthy non-obese (MUNO) phenotypes in Russian population.

Design And Methods: In cross-sectional epidemiology survey "Epidemiology of cardiovascular diseases and its risk factors in some regions of the Russian Federation" a random sampling of 21,121 subjects (25-65 years), stratified by age and sex was involved. Anthropometry, blood pressure (BP) measurement and fasting blood-tests (glucose, lipids) were performed according to standard protocols.

Aging and Ambiguous ROS. System Genetics Analysis.

Famous Free Radical Theory (FRT) of aging, the 50th year anniversary of which is celebrated in 2015 postulates a crucial role of Reactive Oxygen Species (ROS) in aging. Still it is the most robust theory of aging as mitochondria ROS production (mtROSp) correlates well with four principal ''rules" of aging being universal, endogenous, progressive, and deleterious. Vast number of experiments in different species prove mutagenic effect of ROS and their carcinogenic properties.