Publications by authors named "Schaffer A"

Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.

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High-energy nuclear collisions create a quark-gluon plasma, whose initial condition and subsequent expansion vary from event to event, impacting the distribution of the eventwise average transverse momentum [P([p_{T}])]. Disentangling the contributions from fluctuations in the nuclear overlap size (geometrical component) and other sources at a fixed size (intrinsic component) remains a challenge. This problem is addressed by measuring the mean, variance, and skewness of P([p_{T}]) in ^{208}Pb+^{208}Pb and ^{129}Xe+^{129}Xe collisions at sqrt[s_{NN}]=5.

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Article Synopsis
  • Low intra-tumor heterogeneity (ITH) is linked to better patient survival and response to immunotherapy, but the role of immune factors in tumor aggressiveness remains unclear.
  • Researchers studied immune escape mechanisms in mouse tumors with low ITH, finding non-rejected clones had more tumor-associated macrophages and T-cell exhaustion compared to rejected ones.
  • They identified Mif as a key factor in immune rejection; knocking it out led to smaller tumors and lower macrophage infiltration, a finding that was supported by data from melanoma patients.
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Air-water exchange is inevitably accompanied by the transportation of contaminants between atmosphere and water, which significantly leads to the alterations of toxicity and risks. However, the resulting changes of toxicity and risk in water and air due to the cross-interfacial transport of pollutants are still unclear. In this study, the water and atmospheric samples at the Pengxi River located in the Three Gorges Reservoir (TGR), China, were collected in winter and summer seasons respectively.

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Systematic multi-omics analysis revealed ancestry-dependent molecular alterations, but their impact on the efficacy of anti-cancer treatment is yet largely unknown. Here, we analyzed clinical trials from ClinicalTrials.gov and found that only 8,779/102,721 (8.

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Background: Immunotherapy has improved the outcomes for some patients with head and neck squamous-cell carcinoma (HNSCC). However, the low and variable response rates observed highlight the need for robust response biomarkers to select patients for treatment.

Patients And Methods: We assembled and analyzed a large HNSCC dataset, encompassing 11 clinical cohorts including 1232 patient samples, spanning a variety of disease subtypes and immune checkpoint blockade (ICB) treatment types, tissue sources, data modalities, and timing of measurements.

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A search for the exclusive hadronic decays W^{±}→π^{±}γ, W^{±}→K^{±}γ, and W^{±}→ρ^{±}γ is performed using up to 140  fb^{-1} of proton-proton collisions recorded with the ATLAS detector at a center-of-mass energy of sqrt[s]=13  TeV. If observed, these rare processes would provide a unique test bench for the quantum chromodynamics factorization formalism used to calculate cross sections at colliders. Additionally, at future colliders, these decays could offer a new way to measure the W boson mass through fully reconstructed decay products.

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Article Synopsis
  • - The ATLAS experiment at the LHC conducted a search for long-lived particles (LLPs) using a large dataset (140 fb^{-1}) from proton-proton collisions at 13 TeV, focusing on LLPs with masses from 5 to 55 GeV that decay within the inner detector.
  • - The study considered scenarios where LLPs are produced from exotic Higgs boson decays and models involving axionlike particles (ALPs).
  • - No significant findings above expected background levels were detected, leading to the establishment of upper limits on various production rates involving the Higgs boson and the top quark related to LLPs and ALPs.
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Objective: The aim of this study was to analyze medication-related nursing medical malpractice cases to gain insights regarding how malpractice risk can be reduced.

Background: The criminal prosecution and verdict of nurse RaDonda Vaught focused attention on the potential medicolegal risk for nurses related to medications.

Methods: Medication-related medical malpractice cases involving nurses were obtained from a national database.

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Article Synopsis
  • The study investigates the associated production of Higgs and W bosons, focusing on how the relative signs of the Higgs couplings to W and Z bosons impact the process.
  • Two specific searches were conducted using large amounts of collision data from the LHC to analyze different coupling scenarios: one for opposite-sign couplings and another for same-sign (standard model-like) couplings.
  • The results significantly exclude the opposite-sign coupling hypothesis and set a strict upper limit on the production rate of this process compared to standard model predictions.
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Rice is an important staple food around the world, the cultivation as sustainable agriculture and food supply are key to achieving the Sustainable Development Goals (SDGs) of 2030. In order to analyze the sustainability of the rice paddy ecosystem, a comparative study was carried out during the rice growing season between paddies with conventional agriculture (CA) and ecological agriculture (EA), integrating analysis of physico-chemical characteristics of soil and soil pore water, pesticide residues, acute toxic effects and potential ecological risk, as well as aquatic invertebrate community structure dynamics. Our study found that total carbon and nitrogen present in soil were significantly higher in CA than in EA, while opposite results were found in soil pore water, implying the improvement on soil properties in EA.

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The ability to discriminate quantities is crucial for humans and other animals, by allowing individuals to maximize food intake and successfully navigate in their social environment. Here, we used a comprehensive approach to compare quantity discrimination abilities (i.e.

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Article Synopsis
  • Childhood apraxia of speech (CAS) is a serious speech disorder that makes it hard for kids to say words correctly.
  • Researchers studied 27 families and found changes in genes that might link to CAS, identifying 19 special DNA variations.
  • Some of these DNA changes were shared among families, and some were only found in certain kids, showing that CAS can affect siblings differently.
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This Letter presents results from a combination of searches for Higgs boson pair production using 126-140  fb^{-1} of proton-proton collision data at sqrt[s]=13  TeV recorded with the ATLAS detector. At 95% confidence level (CL), the upper limit on the production rate is 2.9 times the standard model (SM) prediction, with an expected limit of 2.

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This Letter presents the first study of the energy dependence of diboson polarization fractions in WZ→ℓνℓ^{'}ℓ^{'}(ℓ,ℓ^{'}=e,μ) production. The dataset used corresponds to an integrated luminosity of 140  fb^{-1} of proton-proton collisions at a center-of-mass energy of 13 TeV recorded by the ATLAS detector. Two fiducial regions with an enhanced presence of events featuring two longitudinally polarized bosons are defined.

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Microscopic analyses and chemical profiling demonstrate that the white rind phenotype in melon fruit is associated with the accumulation of n-alkanes, fatty alcohols, aldehydes and wax esters. Serving as an indicator of quality, the rind (or external) color of fruit directly affects consumer choice. A fruit's color is influenced by factors such as the levels of pigments and deposited epicuticular waxes.

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Recent advances in genetic diagnosis identified variants in genes encoding GABA receptors as causative for genetic epilepsy. Here, we selected eight disease-associated variants in the α1 subunit of GABA receptors causing mild to severe clinical phenotypes and showed that they are loss of function, mainly by reducing the folding and surface trafficking of the α1 protein. Furthermore, we sought client protein-specific pharmacological chaperones to restore the function of pathogenic receptors.

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In order to assess the risk of pesticides to aquatic ecosystems, five single-dose pesticides including chlorpyrifos, pymetrozine, dinotefuran, azoxystrobin, and acetochlor that are frequently used in developing countries, were selected. Based on the principle of conservative risk assessment, application amounts for different dosage forms were recommended, the Top-Rice model and risk quotient method were used to evaluate the aquatic ecological risk of the aforementioned single-dose pesticide products. The results showed that predicted peak environmental concentration ranges after application on rice were 110.

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