Search results for "LOCI"
showing 10 items of 1277 documents
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
2012
BACKGROUND: High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the hypothesis that the association of a plasma biomarker with disease is causal. METHODS: We performed two mendelian randomisation analyses. First, we used as an instrument a single nucleotide polymorphism (SNP) in the endothelial lipase gene (LIPG Asn396Ser) and tested this SNP in 20 studies (20,913 myocardial infarction cases, 95,407 controls). Se…
Large eddy simulation of inertial particles dispersion in a turbulent gas-particle channel flow bounded by rough walls
2020
The purpose of this paper is to understand the capability and consistency of large eddy simulation (LES) in Eulerian–Lagrangian studies aimed at predicting inertial particle dispersion in turbulent wall-bounded flows, in the absence of ad hoc closure models in the Lagrangian equations of particle motion. The degree of improvement granted by LES models is object of debate, in terms of both accurate prediction of particle accumulation and local particle segregation; therefore, we assessed the accuracy in the prediction of the particle velocity statistics by comparison against direct numerical simulation (DNS) of a finer computational mesh, under both one-way and two-way coupling regimes. We p…
High-intensity transient signals during laparoscopic surgery in children.
2009
Background Laparoscopic interventions in children gain increasing popularity. Pneumoperitoneum as applied during laparoscopic surgery can induce gas emboli formation, but it is unclear whether this is associated with cerebral embolic events. To investigate the hypothesis that pneumoperitoneum causes cerebral emboli in children, the number and intensity of high-intensity transient signals (HITS) detected using transcranial Doppler ultrasonography were assessed before and after induction of pneumoperitoneum. Methods Twenty children were monitored during laparoscopic surgery. General anaesthesia was performed using sevoflurane and sufentanil or alfentanil. Pressure-controlled ventilation was a…
Modeling Atmospheric Turbulence via Rapid Distortion Theory: Spectral Tensor of Velocity and Buoyancy
2017
Abstract A spectral tensor model is presented for turbulent fluctuations of wind velocity components and temperature, assuming uniform vertical gradients in mean temperature and mean wind speed. The model is built upon rapid distortion theory (RDT) following studies by Mann and by Hanazaki and Hunt, using the eddy lifetime parameterization of Mann to make the model stationary. The buoyant spectral tensor model is driven via five parameters: the viscous dissipation rate ε, length scale of energy-containing eddies L, a turbulence anisotropy parameter , gradient Richardson number (Ri) representing the local atmospheric stability, and the rate of destruction of temperature variance . Model outp…
Measurement of the group velocity of light in sea water at the ANTARES site
2012
The group velocity of light has been measured at eight different wavelengths between 385 nm and 532 nm in the Mediterranean Sea at a depth of about 2.2 km with the ANTARES optical beacon systems. A parametrisation of the dependence of the refractive index on wavelength based on the salinity, pressure and temperature of the sea water at the ANTARES site is in good agreement with these measurements.
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma
2014
Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10 '21), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10 '10), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10 '8) and two independent SNPs, rs13255292 and rs47336…
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
2013
To access publisher's full text version of this article click on the hyperlink at the bottom of the page Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci sh…
Numerical and experimental study of liquid metal stirring by rotating permanent magnets
2018
In this work, we study liquid gallium stirring by rotating permanent magnets. We demonstrate possibility of easily creating different flow patterns by rotating permanent magnets, which can be industrially important for controlling heat and mass transfer processes in the system. Unlike the typical approach of simulating magnet rotation as a transient problem and time-averaging the Lorentz forces, we solve the magnet rotation as a harmonic (frequency domain) problem, which leads to forces equal to time-averaged ones and decreases the simulation time considerably. Numerical results are validated using qualitative flow structure results from the neutron radiography visualization of tracer parti…
Precise measurement of $2\nu\beta\beta$ decay of $^{100}$Mo with the CUPID-Mo detection technology
2020
We report the measurement of the two-neutrino double-beta ($2\nu\beta\beta$) decay of $^{100}$Mo to the ground state of $^{100}$Ru using lithium molybdate (\crystal) scintillating bolometers. The detectors were developed for the CUPID-Mo program and operated at the EDELWEISS-III low background facility in the Modane underground laboratory. From a total exposure of $42.235$ kg$\times$d, the half-life of $^{100}$Mo is determined to be $T_{1/2}^{2\nu}=[7.12^{+0.18}_{-0.14}\,\mathrm{(stat.)}\pm0.10\,\mathrm{(syst.)}]\times10^{18}$ years. This is the most accurate determination of the $2\nu\beta\beta$ half-life of $^{100}$Mo to date. We also confirm, with the statistical significance of $>3\sigm…
Non invasive blood flow measurement in cerebellum detects minimal hepatic encephalopathy earlier than psychometric tests
2013
AIM: To assess whether non invasive blood flow measurement by arterial spin labeling in several brain regions detects minimal hepatic encephalopathy. METHODS: Blood flow (BF) was analyzed by arterial spin labeling (ASL) in different brain areas of 14 controls, 24 cirrhotic patients without and 16 cirrhotic patients with minimal hepatic encephalopathy (MHE). Images were collected using a 3 Tesla MR scanner (Achieva 3T-TX, Philips, Netherlands). Pulsed ASL was performed. Patients showing MHE were detected using the battery Psychometric Hepatic Encephalopathy Score (PHES) consisting of five tests. Different cognitive and motor functions were also assessed: alterations in selective attention we…