AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission

Higher harmonic anisotropic flow measurements of charged particles in Pb-Pb collisions at 2.76 TeV

We report on the first measurement of the triangular $v_3$, quadrangular $v_4$, and pentagonal $v_5$ charged particle flow in Pb-Pb collisions at 2.76 TeV measured with the ALICE detector at the CERN Large Hadron Collider. We show that the triangular flow can be described in terms of the initial spatial anisotropy and its fluctuations, which provides strong constraints on its origin. In the most central events, where the elliptic flow $v_2$ and $v_3$ have similar magnitude, a double peaked structure in the two-particle azimuthal correlations is observed, which is often interpreted as a Mach cone response to fast partons. We show that this structure can be naturally explained from the measured anisotropic flow Fourier coefficients.Comment: 10 pages, 4 figures, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/387

WHO global research priorities for antimicrobial resistance in human health

The WHO research agenda for antimicrobial resistance (AMR) in human health has identified 40 research priorities to be addressed by the year 2030. These priorities focus on bacterial and fungal pathogens of crucial importance in addressing AMR, including drug-resistant pathogens causing tuberculosis. These research priorities encompass the entire people-centred journey, covering prevention, diagnosis, and treatment of antimicrobial-resistant infections, in addition to addressing the overarching knowledge gaps in AMR epidemiology, burden and drivers, policies and regulations, and awareness and education. The research priorities were identified through a multistage process, starting with a comprehensive scoping review of knowledge gaps, with expert inputs gathered through a survey and open call. The priority setting involved a rigorous modified Child Health and Nutrition Research Initiative approach, ensuring global representation and applicability of the findings. The ultimate goal of this research agenda is to encourage research and investment in the generation of evidence to better understand AMR dynamics and facilitate policy translation for reducing the burden and consequences of AMR

Electroweak measurements in electron–positron collisions at w-boson-pair energies at lep

Contains fulltext : 121524.pdf (preprint version ) (Open Access

Measurement of the charge asymmetry in B-+/- -> phi K +/- and search for B-+/- -> phi pi(+/-) decays

The CP-violating charge asymmetry in B-+/- -> phi K-+/- decays is measured in a sample of pp collisions at 7 TeV centre-of-mass energy, corresponding to an integrated luminosity of 1.0 fb-1 collected by the LHCb experiment. The result is A(CP)(B-+/- -> phi K-+/-) = 0.022 +/- 0.021 +/- 0.009, where the first uncertainty is statistical and the second systematic. In addition, a search for the B-+/- -> phi pi(+/-) decay mode is performed, using the B-+/- -> phi K-+/- decay rate for normalization. An upper limit on the branching fraction B(B-+/- -> phi pi(+/-)) < 1.5 x 10(-7) is set at 90% confidence level. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved

Search for the rare decay D-0 -> mu(+) mu(-)

A search for the rare decay D-0 -> mu(+) mu(-) is performed using a data sample, corresponding to an integrated luminosity of 0.9 fb(-1), of pp collisions collected at a centre-of-mass energy of 7 TeV by the LHCb experiment. The observed number of events is consistent with the background expectations and corresponds to an upper limit of B(D-0 -> mu(+) mu(-)) < 6.2 (7.6) x 10(-9) at 90% (95%) confidence level. This result represents an improvement of more than a factor twenty with respect to previous measurements

Measurement of CP violation and constraints on the CKM angle gamma in B-+/- -> DK +/- with D -> K-s(0)pi(+)pi(-) decays

A model-dependent amplitude analysis of B-+/- -> DK +/- with D -> K-s(0)pi(+)pi(-) decays is performed using proton proton collision data, corresponding to an integrated luminosity of 1 fb(-1), recorded by LHCb at a centre-of-mass energy of 7 TeV in 2011. Values of the CP violation observables x +/- and y +/-, which are sensitive to the CKM angle gamma, are measured to be x- = +0.027 +/- 0.0441(-0.008)(+0.010) +/- 0.001, y- = +0.013 +/- 0.0481(-0.007)(+0.009) +/- 0.003, x+ = -0.084 +/- 0.045 +/- 0.009 +/- 0.005, y+ = -0.032 +/- 0.048(-0.009)(+0.010) +/- 0.008, where the first uncertainty is statistical, the second systematic and the third arises from the uncertainty of the D -> K-S(0)pi(+)pi(-) amplitude model. The value of gamma is determined to be (84(-42)(+49))degrees including all sources of uncertainty. Neutral D meson mixing is found to have negligible effect. (C) 2014 The Authors. Published by Elsevier B.V

Identification of beauty and charm quark jets at LHCb

Identification of jets originating from beauty and charm quarks is important for measuring Standard Model processes and for searching for new physics. The performance of algorithms developed to select b- and c-quark jets is measured using data recorded by LHCb from proton-proton collisions at root s = 7TeV in 2011 and at root s = 8TeV in 2012. The efficiency for identifying a b (c) jet is about 65%(25%) with a probability for misidentifying a light-parton jet of 0.3% for jets with transverse momentum pT > 20GeV and pseudorapidity 2 : 2 < eta < 4.2. The dependence of the performance on the pT and eta of the jet is also measured

Observation of B-s(0) -> chi(c1)phi decay and study of B-0 -> chi K-c1,K-2*(0) decays

The first observation of the decay B-s(0) -> chi(c1)phi and a study of B-0 -> chi K-c1,K-2*(0) decays are presented. The analysis is performed using a dataset, corresponding to an integrated luminosity of 1.0 fb(-1), collected by the LHCb experiment in pp collisions at a centre-of-mass energy of 7 TeV. The following ratios of branching fractions are measured: B(B-s(0) -> chi(c1)phi)/B(B-s(0) -> J/psi phi) = (18.9 +/- 1.8 (stat) +/- 1.3 (syst) +/- 0.8(B)) x 10(-2), B(B-0 -> chi K-c1*(0))//B(B-0 -> J/psi K*(0)) = (19.8 +/- 1.1 (stat) +/- 1.2 (syst) +/- 0.9(B)) x 10(-2), B(B-0 -> chi K-c2*(0))//B(B-0 -> chi K-c1*(0)) = (17.1 +/- 5.0 (stat) +/- 1.7 (syst) +/- 1.1(B)) x 10(-2), where the third uncertainty is due to the limited knowledge of the branching fractions of chi(c) -> J/psi gamma modes

Measurement of the flavour-specific CP-violating asymmetry a(sl)(s) in B-s(0) decays

The CP-violating asymmetry a(sl)(s), is studied using semileptonic decays of B-s(0) and (B) over bar (0)(s) mesons produced in pp collisions at a centre-of-mass energy of 7 TeV at the LHC, exploiting a data sample corresponding to an integrated luminosity of 1.0 fb(-1). The reconstructed final states are D-s(+/-)mu(+/-)(s), with the D-s(+/-) particle decaying in the phi pi(+/-) mode. The D-s(+/-)mu(+/-)(s) yields are summed over B-s(0) and (B) over bar (0)(s) initial states, and integrated with respect to decay time. Data-driven methods are used to measure efficiency ratios. We obtain a(sl)(s) = (-0.06 +/- 0.50 +/- 0.36)%, where the first uncertainty is statistical and the second systematic