22 research outputs found

    Whole-genome sequencing reveals host factors underlying critical COVID-19

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    Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

    Spectrum of two quasiequal-energy electrons ejected by a high-energy photon

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    Stopping power of Zn for heavy ions

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    We present stopping power measurements of Zn for C and O ions and compare them with a theoretical description given by the Transport Cross Section - Extended Friedel Sum Rule (TCS-EFSR) for the valence electrons, and two different models for the inner-shells: the Shellwise Local Plasma Approximation (SLPA) and the CasP approach. The SLPA, which successfully applies to projectiles from H to B, is slightly high for C ions and clearly overestimates the data for O ions. On the other hand, total stopping results using the CasP description for the inner-shells show good agreement with the data for C and O ions, and also with the SRIM predictions. © Published under licence by IOP Publishing Ltd.Fil:Montanari, C.C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.Fil:Behar, M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.Fil:Miraglia, J.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina

    Fast atom diffraction for multi-electronic atoms scattered from a LiF surface

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    In this work we investigate experimentally and theoretically angular distributions of swift multi-electronic atoms after colliding with a LiF(001) surface under axial surface channeling conditions. We use the surface eikonal approximation to describe the quantum interference of scattered projectiles. The atom-surface interaction is represented by means of a pairwise additive potential that includes the contribution of the projectile polarization. The aim is to use the experimental spectra to test the range of validity of the proposed potential model. © Published under licence by IOP Publishing Ltd.Fil:Gravielle, M.S. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.Fil:Miraglia, J.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina

    Book of Abstracts of the 64nd Annual Meeting of the European Federation of Animal Science

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    Published64nd Annual Meeting of the European Federation of Animal Science. Nantes, France, 26-30 august, 201

    Multiple Ionization of Ne in coincidence with partially stripped B 2+ ions in the intermediate energy regime

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    A projectile ion-recoil ion and electron-recoil ion coincidence technique has been used to study the multiple ionization process in collisions of 0.75-4.0MeV B2+ with Ne atoms. Absolute total and partial pure ionization cross sections are reported for the first time at these impact energies with the present setup. The relative contribution of each recoil charge state has been investigated. The experimental data are compared to CDW-EIS calculation and with He2+ projectiles. The data throw further light on the effect of projectile screening in the ionization of multi-electronic targets and provide a support for the validity of the CDW-EIS model in this intermediate-to low velocity regime.Fil:Montanari, C.C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.Fil:Miraglia, J.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina

    Cross sections for single electron capture, transfer ionization and direct ioniza-tion in Li3+- Ne collisions

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    Multiple ionization cross sections of Ne atoms are reported for Li 3+ impact in the energy range of 2 to 5.8MeV. The neon ionization cross sections were separated into three collision channels, namely; direct ionization (DI), single capture (SC) and transfer ionization (TI). The direct ionization data is compared to CDW-EIS calculations as well as to other projectiles with charge state q 3+. The single capture is compared to a modified Bohr-Lindhard semi classical model.Fil:Montanari, C.C. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.Fil:Miraglia, J.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina
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