5,256 research outputs found

    Clusters of Adaptive Evolution in the Human Genome

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    Considerable work has been devoted to identifying regions of the human genome that have been subjected to recent positive selection. Although detailed follow-up studies of putatively selected regions are critical for a deeper understanding of human evolutionary history, such studies have received comparably less attention. Recently, we have shown that ALMS1 has been the target of recent positive selection acting on standing variation in Eurasian populations. Here, we describe a careful follow-up analysis of genetic variation across the ALMS1 region, which unexpectedly revealed a cluster of substrates of positive selection. Specifically, through the analysis of SNP data from the HapMap and Human Genome Diversity Project–Centre d’Etude du Polymorphisme Humain samples as well sequence data from the region, we find compelling evidence for three independent and distinct signals of recent positive selection across this 3 Mb region surrounding ALMS1. Moreover, we analyzed the HapMap data to identify other putative clusters of independent selective events and conservatively discovered 19 additional clusters of adaptive evolution. This work has important implications for the interpretation of genome-scans for positive selection in humans and more broadly contributes to a better understanding of how recent positive selection has shaped genetic variation across the human genome

    Lipoprotein insulin resistance score and branched-chain amino acids increase after adrenalectomy for unilateral aldosterone-producing adenoma: a preliminary study

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    Background and aims Primary aldosteronism (PA) due to unilateral aldosterone-producing adenoma (APA) is preferentially treated by unilateral adrenalectomy (ADX), but little is known about the changes in lipid and glucose metabolism that may occur after ADX. Methods We studied 19 non-diabetic patients who did not use lipid-lowering drugs with PA due to APA before and 6 months after unilateral ADX. Fasting plasma lipids, lipoprotein subfractions, branched-chain amino acids (BCAA), and GlycA, a pro-inflammatory glycoprotein biomarker, were measured by nuclear magnetic resonance (NMR) spectroscopy. The Lipoprotein Insulin Resistance (LP-IR) score, which is based on six lipoprotein variables, was calculated. Results In all patients, hyperaldosteronism was resolved after ADX. Body mass index and fasting plasma glucose were unchanged, but HbA1c increased (p = 0.002). Plasma triglycerides, large triglyceride-rich lipoprotein (TRL) cholesterol, and large TRL particles were increased (p < 0.01), resulting in an increase in TRL size (p = 0.027). High-density lipoprotein size was decreased (p = 0.015). LP-IR scores (p = 0.001) and total BCAA (p = 0.017) were increased, but GlycA remained unaltered. Conclusions Based on increases in LP-IR scores and BCAA, which each have been shown to predict new onset type 2 diabetes mellitus independent of conventional risk factors in the general population, this preliminary study suggests that diabetes risk is not improved but may even be increased after ADX for APA despite remission of PA

    X-Ray Groups of Galaxies in the Aegis Deep and Wide Fields

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    We present the results of a search for extended X-ray sources and their corresponding galaxy groups from 800-ks Chandra coverage of the All-wavelength Extended Groth Strip International Survey (AEGIS). This yields one of the largest X-ray selected galaxy group catalogs from a blind survey to date. The red-sequence technique and spectroscopic redshifts allow us to identify 100% of reliable sources, leading to a catalog of 52 galaxy groups. The groups span the redshift range z0.0661.544z\sim0.066-1.544 and virial mass range M2001.34×10131.33×1014MM_{200}\sim1.34\times 10^{13}-1.33\times 10^{14}M_\odot. For the 49 extended sources which lie within DEEP2 and DEEP3 Galaxy Redshift Survey coverage, we identify spectroscopic counterparts and determine velocity dispersions. We select member galaxies by applying different cuts along the line of sight or in projected spatial coordinates. A constant cut along the line of sight can cause a large scatter in scaling relations in low-mass or high-mass systems depending on the size of cut. A velocity dispersion based virial radius can more overestimate velocity dispersion in comparison to X-ray based virial radius for low mass systems. There is no significant difference between these two radial cuts for more massive systems. Independent of radial cut, overestimation of velocity dispersion can be created in case of existence of significant substructure and also compactness in X-ray emission which mostly occur in low mass systems. We also present a comparison between X-ray galaxy groups and optical galaxy groups detected using the Voronoi-Delaunay method (VDM) for DEEP2 data in this field.Comment: Accepted for publication in AP

    NASA Plum Brook Station In-Space Propulsion Facility Test Stand Characterization Hot Fire Test

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    A test facility modification to enable small scale altitude propulsion testing at the NASA Glenn Research Center's In-Space Propulsion (ISP) Facility was verified with a hot fire test campaign. As the facility's primary steam supply system undergoes refurbishment, the alternate facility configuration, known as the "vacuum accumulator" mode, would enable rocket engine testing up to 10,000 lbf thrust. The NASA Johnson Space Center developed the vehicle for the verification test campaign: the Integrated Cryogenic Propulsion Test Article (ICPTA). Constructed primarily from assets of the former Morpheus Project, the ICPTA provided an integrated liquid oxygen (LOX) / liquid methane (LCH4) propulsion system including a 2,800 lbf thrust main engine. The ISP Facility's vacuum accumulator configuration leveraged the large test volume of the facility and a diffuser insert to maintain altitude conditions. During hot fire, the ICPTA main engine "started" the diffuser insert constructed for the test campaign. As a result, the test chamber upstream of the diffuser insert remained at altitude conditions throughout the hot fire. Upon engine shut down, a backflow deflector mitigated blow back into the test chamber by restricting the mass flow and redirecting it away from the test article. The test campaign successfully characterized the performance of the vacuum accumulator configuration. In addition, it provided an opportunity to collect data for an integrated LOX / LCH4 propulsion system in an altitude and thermal vacuum environment

    Internal states of model isotropic granular packings. I. Assembling process, geometry and contact networks

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    This is the first paper of a series of three, reporting on numerical simulation studies of geometric and mechanical properties of static assemblies of spherical beads under an isotropic pressure. Frictionless systems assemble in the unique random close packing (RCP) state in the low pressure limit if the compression process is fast enough, slower processes inducing traces of crystallization, and exhibit specific properties directly related to isostaticity of the force-carrying structure. The different structures of frictional packings assembled by various methods cannot be classified by the sole density. While lubricated systems approach RCP densities and coordination number z^*~=6 on the backbone in the rigid limit, an idealized "vibration" procedure results in equally dense configurations with z^*~=4.5. Near neighbor correlations on various scales are computed and compared to available laboratory data, although z^* values remain experimentally inaccessible. Low coordination packings have many rattlers (more than 10% of the grains carry no force), which should be accounted for on studying position correlations, and a small proportion of harmless "floppy modes" associated with divalent grains. Frictional packings, however slowly assembled under low pressure, retain a finite level of force indeterminacy, except in the limit of infinite friction.Comment: 29 pages. Published in Physical Review

    Paraoxonase 1 Phenotype and Mass in South Asian versus Caucasian Renal Transplant Recipients

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    South Asian renal transplant recipients have a higher incidence of cardiovascular disease compared with Caucasian renal transplant recipients. We carried out a study to determine whether paraoxonase 1, a novel biomarker for cardiovascular risk, was decreased in South Asian compared with Caucasian renal transplant recipients. Subjects were matched two to one on the basis of age and sex for a total of 129 subjects. Paraoxonase 1 was measured by mass, arylesterase activity, and two-substrate phenotype assay. Comparisons were made by using a matched design. The frequency of PON1 QQ, QR and RR phenotype was 56%, 37%, and 7% for Caucasian subjects versus 35%, 44%, and 21% for South Asian subjects (χ2 = 7.72, P = 0.02). PON1 mass and arylesterase activity were not significantly different between South Asian and Caucasian subjects. PON1 mass was significantly associated with PON1 phenotype (P = 0.0001), HDL cholesterol (P = 0.009), LDL cholesterol (P = 0.02), and diabetes status (P < 0.05). Arylesterase activity was only associated with HDL cholesterol (P = 0.003). Thus the frequency of the PON1 RR phenotype was higher and that of the QQ phenotype was lower in South Asian versus Caucasian renal transplant recipients. However, ethnicity was not a significant factor as a determinant of PON1 mass or arylesterase activity, with or without analysis including PON1 phenotype. The two-substrate method for determining PON1 phenotype may be of value for future studies of cardiovascular complications in renal transplant recipients

    Volumes of polytopes in spaces of constant curvature

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    We overview the volume calculations for polyhedra in Euclidean, spherical and hyperbolic spaces. We prove the Sforza formula for the volume of an arbitrary tetrahedron in H3H^3 and S3S^3. We also present some results, which provide a solution for Seidel problem on the volume of non-Euclidean tetrahedron. Finally, we consider a convex hyperbolic quadrilateral inscribed in a circle, horocycle or one branch of equidistant curve. This is a natural hyperbolic analog of the cyclic quadrilateral in the Euclidean plane. We find a few versions of the Brahmagupta formula for the area of such quadrilateral. We also present a formula for the area of a hyperbolic trapezoid.Comment: 22 pages, 9 figures, 58 reference

    Short-range correlations in low-lying nuclear excited states

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    The electromagnetic transitions to various low-lying excited states of 16O, 48Ca and 208Pb are calculated within a model which considers the short-range correlations. In general the effects of the correlations are small and do not explain the required quenching to describe the data.Comment: 6 pages, 2 postscript figures, 1 tabl
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