EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Peer reviewe

Declaração Internacional sobre o Direito ao Cuidado Nutricional e a Luta contra a Desnutrição

  Faced with the need to promote the right to nutritional care, to fight against malnutrition and to advance in education and research in clinical nutrition, all the FELANPE’s societies signed on May 3 during an extraordinary assembly in the city of Cartagena, the International Declaration on the Right to Nutritional Care and the fight against Malnutrition, “Declaration of Cartagena”. The Declaration provides a coherent framework of thirteen principles which can serve as a guide for societies, schools and associations affiliated to FELANPE in the development of action plans. In addition, it will serve as an instrument to promote, through governments, the formulation of policies and legislation in the field of clinical nutrition. We believe that the general framework of principles proposed by the Declaration can contribute to raise awareness about the magnitude of this problem and to forge cooperation networks among Latin-American countries. Although this Declaration does not have a binding legal effect, it has undeniable moral force and can provide practical guidance to States. We will then be contributing to achieving the United Nations Sustainable Development Goals which aim to put an end to all forms of malnutrition by 2030.Frente a la necesidad de promover el derecho al cuidado nutricional, de luchar contra la malnutrición y de avanzar en temas de educación e investigación en nutrición clínica, las sociedades que constituyen la FELANPE firmaron la Declaración Internacional sobre el Derecho al Cuidado Nutricional y la lucha contra la Malnutrición, “Declaración de Cartagena”, en la asamblea extraordinaria que tuvo lugar el 3 de mayo del presente año en la ciudad de Cartagena. La Declaración proporciona un marco coherente de trece principios los cuales podrán servir de guía a las sociedades, los colegios y las asociaciones afiliadas a la FELANPE en el desarrollo de los planes de acción. Además, servirá como un instrumento para que promuevan, a través de los gobiernos, la formulación de políticas y legislaciones en el campo de la nutrición clínica. Consideramos que el marco general de principios propuesto por la Declaración puede contribuir a crear conciencia acerca de la magnitud de este problema y a forjar redes de cooperación entre los países de la región. Aunque esta Declaración no tiene un efecto jurídico vinculante (obligatorio), tiene una fuerza moral innegable y puede proporcionar orientación práctica a los Estados. Estaremos entonces contribuyendo a alcanzar los Objetivos de Desarrollo Sostenible de Naciones Unidas que buscan, para 2030, poner fin a todas las formas de malnutrición.  Confrontados com a necessidade de promover o direito à assistência nutricional, para combater a desnutrição e favorecer o progresso na educação e na pesquisa em nutrição clínica, todas as companhias membros da FELANPE em data do 3 de maio 2019 numa reunião extraordinária, na cidade de Cartagena, reconhecem e suscrivem à Declaração Internacional sobre o Direito à Nutrição e o combate à desnutrição, “Declaração de Cartagena”. A Declaração fornece uma estrutura coerente de treze princípios que podem servir como um guia para sociedades, escolas e associações afiliadas à FELANPE no desenvolvimento de planos de ação. Além disso, servirá como instrumento para promover, através dos governos, a formulação de políticas e legislação no campo da nutrição clínica. Acreditamos que a estrutura geral de princípios proposta pela Declaração pode contribuir para aumentar a conscientização sobre a magnitude desse problema e forjar redes de cooperação entre os países da região. Embora esta Declaração não tenha um efeito legal vinculante, tem força moral inegável e pode fornecer orientação prática aos Estados. Vamos então contribuir para alcançar os Objetivos de Desenvolvimento Sustentável das Nações Unidas que visam, até 2030, pôr fim a todas as formas de desnutrição

Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector

Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente

Observation of associated near-side and away-side long-range correlations in √sNN=5.02 TeV proton-lead collisions with the ATLAS detector

Two-particle correlations in relative azimuthal angle (Δϕ) and pseudorapidity (Δη) are measured in √sNN=5.02  TeV p+Pb collisions using the ATLAS detector at the LHC. The measurements are performed using approximately 1  μb-1 of data as a function of transverse momentum (pT) and the transverse energy (ΣETPb) summed over 3.1<η<4.9 in the direction of the Pb beam. The correlation function, constructed from charged particles, exhibits a long-range (2<|Δη|<5) “near-side” (Δϕ∼0) correlation that grows rapidly with increasing ΣETPb. A long-range “away-side” (Δϕ∼π) correlation, obtained by subtracting the expected contributions from recoiling dijets and other sources estimated using events with small ΣETPb, is found to match the near-side correlation in magnitude, shape (in Δη and Δϕ) and ΣETPb dependence. The resultant Δϕ correlation is approximately symmetric about π/2, and is consistent with a dominant cos⁡2Δϕ modulation for all ΣETPb ranges and particle pT

Measurement of the cross-section of high transverse momentum vector bosons reconstructed as single jets and studies of jet substructure in pp collisions at √s = 7 TeV with the ATLAS detector

This paper presents a measurement of the cross-section for high transverse momentum W and Z bosons produced in pp collisions and decaying to all-hadronic final states. The data used in the analysis were recorded by the ATLAS detector at the CERN Large Hadron Collider at a centre-of-mass energy of √s = 7 TeV;{\rm Te}{\rm V}$and correspond to an integrated luminosity of$4.6\;{\rm f}{{{\rm b}}^{-1}}$. The measurement is performed by reconstructing the boosted W or Z bosons in single jets. The reconstructed jet mass is used to identify the W and Z bosons, and a jet substructure method based on energy cluster information in the jet centre-of-mass frame is used to suppress the large multi-jet background. The cross-section for events with a hadronically decaying W or Z boson, with transverse momentum${{p}_{{\rm T}}}\gt 320\;{\rm Ge}{\rm V}$and pseudorapidity$|\eta |\lt 1.9$, is measured to be${{\sigma }_{W+Z}}=8.5\pm 1.7$ pb and is compared to next-to-leading-order calculations. The selected events are further used to study jet grooming techniques

Search for direct pair production of the top squark in all-hadronic final states in proton-proton collisions at s√=8 TeV with the ATLAS detector

The results of a search for direct pair production of the scalar partner to the top quark using an integrated luminosity of 20.1fb−1 of proton–proton collision data at √s = 8 TeV recorded with the ATLAS detector at the LHC are reported. The top squark is assumed to decay via t˜→tχ˜01 or t˜→ bχ˜±1 →bW(∗)χ˜01 , where χ˜01 (χ˜±1 ) denotes the lightest neutralino (chargino) in supersymmetric models. The search targets a fully-hadronic final state in events with four or more jets and large missing transverse momentum. No significant excess over the Standard Model background prediction is observed, and exclusion limits are reported in terms of the top squark and neutralino masses and as a function of the branching fraction of t˜ → tχ˜01 . For a branching fraction of 100%, top squark masses in the range 270–645 GeV are excluded for χ˜01 masses below 30 GeV. For a branching fraction of 50% to either t˜ → tχ˜01 or t˜ → bχ˜±1 , and assuming the χ˜±1 mass to be twice the χ˜01 mass, top squark masses in the range 250–550 GeV are excluded for χ˜01 masses below 60 GeV

Estimated Drug Overdose Deaths Averted by North America's First Medically-Supervised Safer Injection Facility

Illicit drug overdose remains a leading cause of premature mortality in urban settings worldwide. We sought to estimate the number of deaths potentially averted by the implementation of a medically supervised safer injection facility (SIF) in Vancouver, Canada.The number of potentially averted deaths was calculated using an estimate of the local ratio of non-fatal to fatal overdoses. Inputs were derived from counts of overdose deaths by the British Columbia Vital Statistics Agency and non-fatal overdose rates from published estimates. Potentially-fatal overdoses were defined as events within the SIF that required the provision of naloxone, a 911 call or an ambulance. Point estimates and 95% Confidence Intervals (95% CI) were calculated using a Monte Carlo simulation. Between March 1, 2004 and July 1, 2008 there were 1004 overdose events in the SIF of which 453 events matched our definition of potentially fatal. In 2004, 2005 and 2006 there were 32, 37 and 38 drug-induced deaths in the SIF's neighbourhood. Owing to the wide range of non-fatal overdose rates reported in the literature (between 5% and 30% per year) we performed sensitivity analyses using non-fatal overdose rates of 50, 200 and 300 per 1,000 person years. Using these model inputs, the number of averted deaths were, respectively: 50.9 (95% CI: 23.6–78.1); 12.6 (95% CI: 9.6–15.7); 8.4 (95% CI: 6.5–10.4) during the study period, equal to 1.9 to 11.7 averted deaths per annum.Based on a conservative estimate of the local ratio of non-fatal to fatal overdoses, the potentially fatal overdoses in the SIF during the study period could have resulted in between 8 and 51 deaths had they occurred outside the facility, or from 6% to 37% of the total overdose mortality burden in the neighborhood during the study period. These data should inform the ongoing debates over the future of the pilot project

Search for pair-produced long-lived neutral particles decaying to jets in the ATLAS hadronic calorimeter in ppcollisions at √s=8TeV

The ATLAS detector at the Large Hadron Collider at CERN is used to search for the decay of a scalar boson to a pair of long-lived particles, neutral under the Standard Model gauge group, in 20.3fb−1of data collected in proton–proton collisions at √s=8TeV. This search is sensitive to long-lived particles that decay to Standard Model particles producing jets at the outer edge of the ATLAS electromagnetic calorimeter or inside the hadronic calorimeter. No significant excess of events is observed. Limits are reported on the product of the scalar boson production cross section times branching ratio into long-lived neutral particles as a function of the proper lifetime of the particles. Limits are reported for boson masses from 100 GeVto 900 GeV, and a long-lived neutral particle mass from 10 GeVto 150 GeV

A Lipopeptide Facilitate Induction of Mycobacterium leprae Killing in Host Cells

Little is known of the direct microbicidal activity of T cells in leprosy, so a lipopeptide consisting of the N-terminal 13 amino acids lipopeptide (LipoK) of a 33-kD lipoprotein of Mycobacterium leprae, was synthesized. LipoK activated M. leprae infected human dendritic cells (DCs) to induce the production of IL-12. These activated DCs stimulated autologous CD4+ or CD8+ T cells towards type 1 immune response by inducing interferon-gamma secretion. T cell proliferation was also evident from the CFSE labeling of target CD4+ or CD8+ T cells. The direct microbicidal activity of T cells in the control of M. leprae multiplication is not well understood. The present study showed significant production of granulysin, granzyme B and perforin from these activated CD4+ and CD8+ T cells when stimulated with LipoK activated, M. leprae infected DCs. Assessment of the viability of M. leprae in DCs indicated LipoK mediated T cell-dependent killing of M. leprae. Remarkably, granulysin as well as granzyme B could directly kill M. leprae in vitro. Our results provide evidence that LipoK could facilitate M. leprae killing through the production of effector molecules granulysin and granzyme B in T cells