Filtyp
Background. Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods. Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results. Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270
A well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), maternal (n = 61,228) and paternal (n = 52,392) genomes, yielding 40 independent association signals. Twenty-six signals are classified as fetal, four maternal and three fetal and m
Context. The third Gaia data release provides photometric time series covering 34 months for about 10 million stars. For many of those stars, a characterisation in Fourier space and their variability classification are also provided. This paper focuses on intermediate- to high-mass (IHM) main sequence pulsators (M'a ¥''1.3'M') of spectral types O, B, A, or F, known as β Cep, slowly pulsating B (SP
A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control
Planets with radii between that of the Earth and Neptune (hereafter referred to as ‘sub-Neptunes’) are found in close-in orbits around more than half of all Sun-like stars 1,2. However, their composition, formation and evolution remain poorly understood 3. The study of multiplanetary systems offers an opportunity to investigate the outcomes of planet formation and evolution while controlling for i
Background Five modifiable risk factors are associated with cardiovascular disease and death from any cause. Studies using individual-level data to evaluate the regional and sex-specific prevalence of the risk factors and their effect on these outcomes are lacking. Methods We pooled and harmonized individual-level data from 112 cohort studies conducted in 34 countries and 8 geographic regions part
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (wh
Understanding the role of parton mass and Casimir color factors in the quantum chromodynamics parton shower represents an important step in characterizing the emission properties of heavy quarks. Recent experimental advances in jet substructure techniques have provided the opportunity to isolate and characterize gluon emissions from heavy quarks. In this Letter, the first direct experimental const
Introduction: The I-MOVE-COVID-19 and VEBIS hospital networks have been measuring COVID-19 vaccine effectiveness (VE) in participating European countries since early 2021. Aim: We aimed to measure VE against PCR-confirmed SARS-CoV-2 in patients ≥20 years hospitalised with severe acute respiratory infection (SARI) from December 2021 to July 2022 (Omicron-dominant period). Methods: In both networks,
Context. The Gaia DR3 catalogue contains, for the first time, about 800 000 solutions with either orbital elements or trend parameters for astrometric, spectroscopic, and eclipsing binaries, and combinations of these three. Aims. With this paper, we aim to illustrate the huge potential of this large non-single-star catalogue. Methods. Using the orbital solutions and models of the binaries, we have
Fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) are both used to diagnose diabetes, but these measurements can identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening, had
The first experimental information on the strong interaction between Λ and Ξ− strange baryons is presented in this Letter. The correlation function of Λ–Ξ− and Λ‾–Ξ‾+ pairs produced in high-multiplicity proton–proton (pp) collisions at s=13 TeV at the LHC is measured as a function of the relative momentum of the pair. The femtoscopy method is used to calculate the correlation function, which is th
Abstract Background Guidelines recommend normocapnia for adults with coma who are resuscitated after out-of-hospital cardiac arrest. However, mild hypercapnia increases cerebral blood flow and may improve neurologic outcomes. Methods We randomly assigned adults with coma who had been resuscitated after out-of-hospital cardiac arrest of presumed cardiac or unknown cause and admitted to the intensiv
Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27. We report AU exome sequencing results from eight independent cohorts consisting of 3,850 cases and 916,549 controls. We identify common genome-wide significant loci in HLA-B (OR = 3.37, p = 1.03e-196) and ERAP1 (OR = 0.86, p = 1.1e-08), and find IPMK (OR =
The pseudorapidity density of charged particles with minimum transverse momentum (pT) thresholds of 0.15, 0.5, 1, and 2 GeV/c is measured in pp collisions at the center of mass energies of s=5.02 and 13 TeV with the ALICE detector. The study is carried out for inelastic collisions with at least one primary charged particle having a pseudorapidity (η) within ±0.8 and pT larger than the correspondin
We introduce the bow tie multi-pass cell as a new scheme for post-compression of high-energy laser pulses, overcoming current limits of Herriott-type multi-pass cell-based post-compression imposed mainly by mirror damage threshold limitations.
In this Letter, the first measurement of the inelastic cross section for antitriton–nucleus interactions is reported, covering the momentum range of 0.8≤p
NO2 concentration measurements have been performed in an industrial test rig using laser-induced fluorescence. The goal is to improve the understanding of the electron-induced chemical species in the plasma, thus improving the neutralization scheme.
This Letter reports the observation of single top quarks produced together with a photon, which directly probes the electroweak coupling of the top quark. The analysis uses 139 fb^{-1} of 13 TeV proton-proton collision data collected with the ATLAS detector at the Large Hadron Collider. Requiring a photon with transverse momentum larger than 20 GeV and within the detector acceptance, the fiducial
A key open question in the study of multiparticle production in high-energy pp collisions is the relationship between the "ridge"-i.e., the observed azimuthal correlations between particles in the underlying event that extend over all rapidities-and hard or semihard scattering processes. In particular, it is not known whether jets or their soft fragments are correlated with particles in the underl
