Space geodesy altimetry study

Tradeoff analysis on radar and laser space altimeter systems for sea surface geodes

Polarization reversal in KTP single crystals with surface dielectric layer and at elevated temperatures

The research was made possible in part by Government of the Russian Federation (Act 211, Agreement 02.A03.21.0006) by RFBR (grant 16-02-00724), and by President of Russian Federation grant for young scientists (Contract 14.Y30.17.2837-MK). The equipment of the Ural Center for Shared Use “Modern nanotechnology” Ural Federal University was used

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning

One of the most common congenital metabolic disorders is familial hypercholesterolemia. Familial hyper-cholesterolemia is a condition caused by a type of genetic defect leading to a decreased rate of removal of low-density lipoproteins from the bloodstream and a pronounced increase in the blood level of total cholesterol. This disease leads to the early development of cardiovascular diseases of atherosclerotic etiology. Familial hypercholesterolemia is a monogenic disease that is predominantly autosomal dominant. Rare pathogenic variants in the LDLR gene are present in 75–85 % of cases with an identified molecular genetic cause of the disease, and variants in other genes (APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, and others) occur at a frequency of < 5 % in this group of patients. A negative result of genetic screening for pathogenic variants in genes of the low-density lipoprotein receptor and its ligands does not rule out a diagnosis of familial hypercholesterolemia. In 20–40 % of cases, molecular genetic testing fails to detect changes in the above genes. The aim of this work was to search for new genes associated with the familial hypercholesterolemia phenotype by modern high-tech methods of sequencing and machine learning. On the basis of a group of patients with familial hypercholesterolemia (enrolled according to the Dutch Lipid Clinic Network Criteria and including cases confirmed by molecular genetic analysis), decision trees were constructed, which made it possible to identify cases in the study population that require additional molecular genetic analysis. Five probands were identified as having the severest familial hypercholesterolemia without pathogenic variants in the studied genes and were analyzed by whole-genome sequencing on the HiSeq 1500 platform (Illumina). The whole-genome sequencing revealed rare variants in three out of five analyzed patients: a heterozygous variant (rs760657350) located in a splicing acceptor site in the PLD1 gene (c.2430-1G>A), a previously undescribed single-nucleotide deletion in the SIDT1 gene [c.2426del (p.Leu809CysfsTer2)], new missense variant c.10313C>G (p.Pro3438Arg) in the LRP1B gene, and single-nucleotide deletion variant rs753876598 [c.165del (p.Ser56AlafsTer11)] in the CETP gene. All these variants were found for the first time in patients with a clinical diagnosis of familial hypercholesterolemia. Variants were identified that may influence the formation of the familial hypercholesterolemia phenotype

Counterion effect on the spin-transition properties of the second generation iron(III) dendrimeric complexes

© 2017 Elsevier B.V.The magnetic properties and the influence of counterions on the spin crossover properties of two novel Fe(III) dendrimeric complexes of the second generation, namely [Fe(L)2]+X−, where L = 3,5-di(3,4,5-tris(tetradecyloxy)benzoyloxy)benzoyl-4-oxy-salicylidene-N’-ethyl-N-ethylenediamine X = Cl− (1), ClO4− (2), have been studied for the first time by magnetic susceptibility measurements and electron paramagnetic resonance (EPR) method in a wide (4.2–300 K) temperature range. EPR results showed that compound 1 contains about 98% of high-spin (HS, S = 5/2) and ∼2% of low-spin (LS, S = 1/2) Fe(III) centers, and undergoes an antiferromagnetic ordering below 7 K. The EPR integrated intensity of a broad line (g ≈ 2), corresponding to the HS iron(III) centers, passes through a broad maximum at Tmax ≈ 100 K, which is indicative of short-range correlation effects. The anomalous broadening of this EPR line at low temperatures with the critical exponent β = 1.5 upon approaching the long-range ordering transition (TNEPR = 7 K) from above indicates the quasi-two-dimensional antiferromagnetic nature of magnetism in complex 1. The spin-crossover effect is completely suppressed in compound 1. The complex with ClO4− counterion demonstrates a different magnetic behavior. EPR data showed that compound 2 contains about 77% of LS and ∼23% of HS Fe(III) centers at TNEPR = 10.2 K. It displays a partial spin crossover (S = 5/2 ↔ 1/2) above 150 K and undergoes the antiferromagnetic ordering below 10.2 K. The obtained results and the results of DFT calculations allowed us to conclude that a bilayered packing with a chain structure of Fe(III) centers in ionic bilayers is formed in compound 1, whereas a dimeric structure of Fe(III) centers is formed in compound 2. Thus, the ability of the counterion to form an effective network of hydrogen bonds and its size define the packing motif of the [Fe(L)2]+ complexes. Therefore, the replacing of the counterion has a significant impact on the magnetic properties of the compound

Navajo Coal Combustion and Respiratory Health Near Shiprock, New Mexico

Indoor air pollution has been identified as a major risk factor for acute and chronic respiratory diseases throughout the world. In the sovereign Navajo Nation, an American Indian reservation located in the Four Corners area of the USA, people burn coal in their homes for heat. To explore whether/how indoor coal combustion might contribute to poor respiratory health of residents, this study examined respiratory health data, identified household risk factors such as fuel and stove type and use, analyzed samples of locally used coal, and measured and characterized fine particulate airborne matter inside selected homes. In twenty-five percent of homes surveyed coal was burned in stoves not designed for that fuel, and indoor air quality was frequently found to be of a level to raise concerns. The average winter 24-hour PM(2.5) concentration in 20 homes was 36.0 μg/m(3). This is the first time that PM(2.5) has been quantified and characterized inside Navajo reservation residents' homes

The United States of America and Scientific Research

To gauge the current commitment to scientific research in the United States of America (US), we compared federal research funding (FRF) with the US gross domestic product (GDP) and industry research spending during the past six decades. In order to address the recent globalization of scientific research, we also focused on four key indicators of research activities: research and development (R&D) funding, total science and engineering doctoral degrees, patents, and scientific publications. We compared these indicators across three major population and economic regions: the US, the European Union (EU) and the People's Republic of China (China) over the past decade. We discovered a number of interesting trends with direct relevance for science policy. The level of US FRF has varied between 0.2% and 0.6% of the GDP during the last six decades. Since the 1960s, the US FRF contribution has fallen from twice that of industrial research funding to roughly equal. Also, in the last two decades, the portion of the US government R&D spending devoted to research has increased. Although well below the US and the EU in overall funding, the current growth rate for R&D funding in China greatly exceeds that of both. Finally, the EU currently produces more science and engineering doctoral graduates and scientific publications than the US in absolute terms, but not per capita. This study's aim is to facilitate a serious discussion of key questions by the research community and federal policy makers. In particular, our results raise two questions with respect to: a) the increasing globalization of science: “What role is the US playing now, and what role will it play in the future of international science?”; and b) the ability to produce beneficial innovations for society: “How will the US continue to foster its strengths?

A pilot study to evaluate the application of a generic protein standard panel for quality control of biomarker detection technologies

<p>Abstract</p> <p>Background</p> <p>Protein biomarker studies are currently hampered by a lack of measurement standards to demonstrate quality, reliability and comparability across multiple assay platforms. This is especially pertinent for immunoassays where multiple formats for detecting target analytes are commonly used.</p> <p>Findings</p> <p>In this pilot study a generic panel of six non-human protein standards (50 - 10^7 pg/mL) of varying abundance was prepared as a quality control (QC) material. Simulated "normal" and "diseased" panels of proteins were prepared in pooled human plasma and incorporated into immunoassays using the Meso Scale Discovery^®(MSD^®) platform to illustrate reliable detection of the component proteins. The protein panel was also evaluated as a spike-in material for a model immunoassay involving detection of ovarian cancer biomarkers within individual human plasma samples. Our selected platform could discriminate between two panels of the proteins exhibiting small differences in abundance. Across distinct experiments, all component proteins exhibited reproducible signal outputs in pooled human plasma. When individual donor samples were used, half the proteins produced signals independent of matrix effects. These proteins may serve as a generic indicator of platform reliability.</p> <p>Each of the remaining proteins exhibit differential signals across the distinct samples, indicative of sample matrix effects, with the three proteins following the same trend. This subset of proteins may be useful for characterising the degree of matrix effects associated with the sample which may impact on the reliability of quantifying target diagnostic biomarkers.</p> <p>Conclusions</p> <p>We have demonstrated the potential utility of this panel of standards to act as a generic QC tool for evaluating the reproducibility of the platform for protein biomarker detection independent of serum matrix effects.</p