Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity

DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt

Measurements of the production cross-section for a Z boson in association with b- or c-jets in proton–proton collisions at √s = 13 TeV with the ATLAS detector

This paper presents a measurement of the production cross-section of a Z boson in association with bor c-jets, in proton–proton collisions at √s = 13 TeV with the ATLAS experiment at the Large Hadron Collider using data corresponding to an integrated luminosity of 140 fb−1. Inclusive and differential cross-sections are measured for events containing a Z boson decaying into electrons or muons and produced in association with at least one b-jet, at least one c-jet, or at least two b-jets with transverse momentum pT > 20 GeV and rapidity |y| < 2.5. Predictions from several Monte Carlo generators based on next-to-leading-order matrix elements interfaced with a parton-shower simulation, with different choices of flavour schemes for initial-state partons, are compared with the measured cross-sections. The results are also compared with novel predictions, based on infrared and collinear safe jet flavour dressing algorithms. Selected Z+ ≥ 1 c-jet observables, optimized for sensitivity to intrinsic-charm, are compared with benchmark models with different intrinsic-charm fractions

Search for heavy Majorana or Dirac neutrinos and right-handed W gauge bosons in final states with charged leptons and jets in pp collisions at √s = 13 TeV with the ATLAS detector

A search for heavy right-handed Majorana or Dirac neutrinos NR and heavy right-handed gauge bosons WR is performed in events with energetic electrons or muons, with the same or opposite electric charge, and energetic jets. The search is carried out separately for topologies of clearly separated final-state products (“resolved” channel) and topologies with boosted final states with hadronic and/or leptonic products partially overlapping and reconstructed as a large-radius jet (“boosted” channel). The events are selected from pp collision data at the LHC with an integrated luminosity of 139 fb−1 collected by the ATLAS detector at √s = 13 TeV. No significant deviations from the Standard Model predictions are observed. The results are interpreted within the theoretical framework of a left-right symmetric model, and lower limits are set on masses in the heavy righthanded WR boson and NR plane. The excluded region extends to about m(WR) = 6.4 TeV for both Majorana and Dirac NR neutrinos at m(NR) < 1 TeV. NR with masses of less than 3.5 (3.6) TeV are excluded in the electron (muon) channel at m(WR) = 4.8 TeV for the Majorana neutrinos, and limits of m(NR) up to 3.6 TeV for m(WR) = 5.2 (5.0) TeV in the electron (muon) channel are set for the Dirac neutrinos. These constitute the most stringent exclusion limits to date for the model considered

Software performance of the ATLAS track reconstruction for LHC run 3

Charged particle reconstruction in the presence of many simultaneous proton–proton (pp) collisions in the LHC is a challenging task for the ATLAS experiment’s reconstruction software due to the combinatorial complexity. This paper describes the major changes made to adapt the software to reconstruct high-activity collisions with an average of 50 or more simultaneous pp interactions per bunch crossing (pileup) promptly using the available computing resources. The performance of the key components of the track reconstruction chain and its dependence on pile-up are evaluated, and the improvement achieved compared to the previous software version is quantified. For events with an average of 60 pp collisions per bunch crossing, the updated track reconstruction is twice as fast as the previous version, without significant reduction in reconstruction efficiency and while reducing the rate of combinatorial fake tracks by more than a factor two

Observation of four-top-quark production in the multilepton final state with the ATLAS detector

This paper presents the observation of four-top-quark (tt¯tt¯) production in proton-proton collisions at the LHC. The analysis is performed using an integrated luminosity of 140 fb−1 at a centre-of-mass energy of 13 TeV collected using the ATLAS detector. Events containing two leptons with the same electric charge or at least three leptons (electrons or muons) are selected. Event kinematics are used to separate signal from background through a multivariate discriminant, and dedicated control regions are used to constrain the dominant backgrounds. The observed (expected) significance of the measured tt¯tt¯ signal with respect to the standard model (SM) background-only hypothesis is 6.1 (4.3) standard deviations. The tt¯tt¯ production cross section is measured to be 22.5+6.6−5.5 fb, consistent with the SM prediction of 12.0±2.4 fb within 1.8 standard deviations. Data are also used to set limits on the three-top-quark production cross section, being an irreducible background not measured previously, and to constrain the top-Higgs Yukawa coupling and effective field theory operator coefficients that affect tt¯tt¯ production

Fabrication and Characterization of NP-TiO2 Thin Films for High Efficiency Dye-Sensitized Solar Cell Application

In this research, the fabrication technique of Titanium-Dioxide (TiO2) with Anatase nano-particles thin film (NP-TiO2) electrode prepared by sol gel processes application which with more porous and specific surface area for dye-sensitized solar cells (DSSCs) was investigated.(1-5) NP-TiO2 thin films with different thickness (1 similar to 10 mu m) have been deposited on ITO coated glass substrates by a spin-coating method, and then annealing for application as the working electrode for DSSCs at 400 degrees C for 1 hour. The effects of NP-TiO2 on the morphology and phase stability have been discussed. The performance of DSSCs with different NP-TiO2 thickness was observed. The results show the dependencies of the open circuit voltage (V-OC), short circuit photocurrent density (J(SC)), fill factor (FF) and conversion efficiency (eta) on NP-TiO2 thickness for active layer of DSSC. It was found that the V-OC and FF decrease as the increase of the NP-TiO2 thickness. J(SC) increases strongly with increasing NP-TiO2 thickness and is reduced when NP-TiO2 thickness is increased by thickness of 7 mu m. The best result of DSSCs with a J(SC) of 13.4 mA/cm(2), V-OC of 0.7 V, and FE of 0.57, corresponding to an overall 71 of 5.4% are obtained under solar simulator with AM 1.5 G, 100 mW/cm(2). This study provides clear evidence for the contact area between NP-TiO2 electrode thickness and dye plays an important role on the efficiency of DSSCs

Bayesian treatment of a chemical mass balance receptor model with multiplicative error structure

The chemical mass balance (CMB) receptor model is commonly used in source apportionment studies as a means for attributing measured airborne particulate matter (PM) to its constituent emission sources. Traditionally, error terms (e.g., measurement and source profile uncertainty) associated with the model have been treated in an additive sense. In this work, however, arguments are made for the assumption of multiplicative errors, and the effects of this assumption are realized in a Bayesian probabilistic formulation which incorporates a 'modified' receptor model. One practical, beneficial effect of the multiplicative error assumption is that it automatically precludes the possibility of negative source contributions, without requiring additional constraints on the problem. The present Bayesian treatment further differs from traditional approaches in that the source profiles are inferred alongside the source contributions. Existing knowledge regarding the source profiles is incorporated as prior information to be updated through the Bayesian inferential scheme. Hundreds of parameters are therefore present in the expression for the joint probability of the source contributions and profiles (the posterior probability density function, or PDF), whose domain is explored efficiently using the Hamiltonian Markov chain Monte Carlo method. The overall methodology is evaluated and results compared to the US Environmental Protection Agency's standard CMB model using a test case based on PM data from Fresno, California. (c) 2008 Elsevier Ltd. All rights reserved