992 resultados para Lyons


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

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We present a measurement of the ratio of positive to negative muon fluxes from cosmic ray interactions in the atmosphere, using data collected by the CMS detector both at ground level and in the underground experimental cavern at the CERN LHC. Muons were detected in the momentum range from 5 GeV/. c to 1 TeV/. c. The surface flux ratio is measured to be 1.2766±0.0032(stat.)±0.0032(syst.), independent of the muon momentum, below 100 GeV/. c. This is the most precise measurement to date. At higher momenta the data are consistent with an increase of the charge ratio, in agreement with cosmic ray shower models and compatible with previous measurements by deep-underground experiments. © 2010.

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A measurement of the underlying activity in scattering processes with pT scale in the GeV region is performed in proton-proton collisions at √ = 0.9 TeV, using data collected by the CMS experiment at the LHC. Charged particle production is studied with reference to the direction of a leading object, either a charged particle or a set of charged particles forming a jet. Predictions of several QCD-inspired models as implemented in PYTHIA are compared, after full detector simulation, to the data. The models generally predict too little production of charged particles with pseudorapidity {pipe}η{pipe} < 2, pT > 0.5 GeV/c, and azimuthal direction transverse to that of the leading object. © 2010 CERN for benefit of the CMS collaboration.

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The production of J/ψ mesons is studied in pp collisions at √s = 7 TeV with the CMS experiment at the LHC. The measurement is based on a dimuon sample corresponding to an integrated luminosity of 314 nb-1. The J/ψ differential cross section is determined, as a function of the J/ψ transverse momentum, in three rapidity ranges. A fit to the decay length distribution is used to separate the prompt from the non-prompt (b hadron to J/ψ) component. Integrated over J/ψ transverse momentum from 6.5 to 30 GeV/c and over rapidity in the range {pipe}y{pipe} < 2.4, the measured cross sections, times the dimuon decay branching fraction, are 70.9 ± 2.1(stat.) ± 3.0(syst.) ± 7.8(luminosity) nb for prompt J/ψ mesons assuming unpolarized production and 26.0 ± 1.4(stat.) ± 1.6(syst.) ± 2.9(luminosity) nb for J/ψ mesons from b-hadron decays. © CERN for the benefit of the CMS collaboration 2011.

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First measurements of dihadron correlations for charged particles are presented for central PbPb collisions at a nucleon-nucleon center-of-mass energy of 2.76TeV over a broad range in relative pseudorapidity (Δν) and the full range of relative azimuthal angle (Δø). The data were collected with the CMS detector, at the LHC. A broadening of the away-side (Δø y≈ π) azimuthal correlation is observed at all Δν, as compared to the measurements in pp collisions. Furthermore, long-range dihadron correlations in Δν are observed for particles with similar ø values. This phenomenon, also known as the \ridge, persists up to at least jΔνj = 4. For particles with transverse momenta (pT) of 2-4 GeV/c, the ridge is found to be most prominent when these particles are correlated with particles of pT = 2-6 GeV/c, and to be much reduced when paired with particles of pT = 10-12 GeV/c. Copyright CERN.

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Measurements of inclusive W and Z boson production cross sections in pp collisions at √s = 7 TeV are presented, based on 2.9 pb-1 of data recorded by the CMS detector at the LHC. The measurements, performed in the electron and muon decay channels, are combined to give σ(pp → WX) × B(W → l?) = 9.95 ± 0.07 (stat.) ± 0.28 (syst.) ± 1.09 (lumi.) nb and σ(pp → ZX) × B(Z → l +l-) = 0.931 ± 0.026 (stat.) ± 0.023 (syst.) ± 0.102 (lumi.) nb, where l stands for either e or μ. Theoretical predictions, calculated at the next-to-next-to-leading order in QCD using recent parton distribution functions, are in agreement with the measured cross sections. Ratios of cross sections, which incur an experimental systematic uncertainty of less than 4%, are also reported.

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The Drell-Yan differential cross section is measured in pp collisions at √ s = 7TeV, from a data sample collected with the CMS detector at the LHC, corresponding to an integrated luminosity of 36 pb-1. The cross section measurement, normalized to the measured cross section in the Z region, is reported for both the dimuon and dielectron channels in the dilepton invariant mass range 15{600 GeV. The normalized cross section values are quoted both in the full phase space and within the detector acceptance. The effect of final state radiation is also identified. The results are found to agree with theoretical predictions. Copyright CERN.

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The charged particle transverse momentum (pT) spectra are presented for pp collisions at √s = 0:9 and 7TeV. The data samples were collected with the CMS detector at the LHC and correspond to integrated luminosities of 231 μb-1 and 2.96 pb-1, respectively. Calorimeter-based high-transverse-energy triggers are employed to enhance the statistical reach of the high-pT measurements. The results are compared with leading and next-toleading order QCD and with an empirical scaling of measurements at different collision energies using the scaling variable xT - 2pT=ps over the pT range up to 136 GeV/c. Using a combination of xT scaling and direct interpolation at fixed pT, a reference transverse momentum spectrum at √s = 2:76TeV is constructed, which can be used for studying high-pT particle suppression in the dense QCD medium produced in heavy-ion collisions at that centre-of-mass energy. Copyright CERN.

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Results are reported from a search for physics beyond the standard model in proton-proton collisions at a center-of-mass energy of 7TeV, focusing on the signature with a single, isolated, high-transverse-momentum lepton (electron or muon), energetic jets, and large missing transverse momentum. The data sample comprises an integrated luminosity of 36 pb-1, recorded by the CMS experiment at the LHC. The search is motivated by models of new physics, including supersymmetry. The observed event yields are consistent with standard model backgrounds predicted using control samples obtained from the data. The characteristics of the event sample are consistent with those expected for the production of tt̄ and W+jets events. The results are interpreted in terms of limits on the parameter space for the constrained minimal supersymmetric extension of the standard model.

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A measurement of the lepton charge asymmetry in inclusive pp → WX production at √s = 7TeV is presented based on data recorded by the CMS detector at the LHC and corresponding to an integrated luminosity of 36 pb -1. This high precision measurement of the lepton charge asymmetry, performed in both the W → eν and W → μν channels, provides new insights into parton distribution functions. Copyright CERN.

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A measurement of the underlying activity in events with a jet of transverse momentum in the several GeV region is performed in proton-proton collisions at √ s = 0:9 and 7TeV, using data collected by the CMS experiment at the LHC. The production of charged particles with pseudorapidity |η|<2 and transverse momentum pT >0:5 GeV/c is studied in the azimuthal region transverse to that of the leading set of charged particles forming a track-jet. A significant growth of the average multiplicity and scalar-pT sum of the particles in the transverse region is observed with increasing pT of the leading trackjet, followed by a much slower rise above a few GeV/c. For track-jet pT larger than a few GeV/c, the activity in the transverse region is approximately doubled with a centreof- mass energy increase from 0:9 to 7TeV. Predictions of several QCD-inspired models as implemented in pythia are compared to the data.

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A measurement of the J/ ψ and ψ (2S) production cross sections in pp collisions at √s = 7TeV with the CMS experiment at the LHC is presented. The data sample corresponds to an integrated luminosity of 37 pb -1. Using a fit to the invariant mass and decay length distributions, production cross sections have been measured separately for prompt and non-prompt charmonium states, as a function of the meson transverse momentum in several rapidity ranges and integrated in the kinematical regions considered in this study. In addition, cross sections restricted to the acceptance of the CMS detector are given, which are not affected by the polarization of the charmonium states. The ratio of the differential production cross sections of the two states, where systematic uncertainties largely cancel, is also determined. The branching fraction of the inclusive B → ψ (2S)X decay is extracted from the ratio of the non-prompt cross sections to be: B(B → ψ (2S)X) = (3:08 ± 0:12 (stat.+syst.) ± 0:13 (theor.) ± 0:42 (BPDG)) × 10 -3: B(B → ψ(2S)X) = (3.08 ± 0.12 (stat.+syst.) ± 0.13 (theor.) ± 0.42 (B PDG)) × 10 -3.