Filtyp
Genome-wide association studies (GWAS) for biomarkers important for clinical phenotypes can lead to clinically relevant discoveries. Conventional GWAS for quantitative traits are based on simplified regression models modeling the conditional mean of a phenotype as a linear function of genotype. We draw attention here to an alternative, lesser known approach, namely quantile regression that natural
Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) is a rare genetic disorder caused by biallelic variants in the PGM1 gene, leading to the deficiency of the PGM1 enzyme. The most common clinical presentations include muscle involvement, failure to thrive, cleft palate, and cardiac involvement. Abnormal serum N-glycosylation, hypoglycemia, and liver function abnormalities includi
Obesity and Type 2 diabetes (T2D) are known to exacerbate cerebral injury caused by stroke. Metabolomics can provide signatures of metabolic disease, and now we explored whether the analysis of plasma metabolites carries biomarkers of how obesity and T2D impact post-stroke recovery. Male mice were fed a high-fat diet (HFD) for 10 months leading to development of obesity with T2D or a standard diet
Escape from cytotoxic T lymphocyte (CTL) responses toward HIV-1 Gag and Nef has been associated with reduced control of HIV-1 replication in adults. However, less is known about CTL-driven immune selection in infants as longitudinal studies of infants are limited. Here, 1,210 gag and 1,264 nef sequences longitudinally collected within 15 months after birth from 14 HIV-1 perinatally infected infant
This paper proposes a simple framework to model contextual influences on procedural decision making. In terms of utility, we differentiate between monetary payoffs and contextual psychological ones, e.g. deriving from the subjects’ normative frame of reference. Monetary payoffs are treated as common knowledge while psychological payoffs are treated as partly unforeseeable. Regarding behaviour, we
Chemical reactivity of the superheavy elements nihonium (Nh, element 113) and moscovium (Mc, element 115) has been studied by the gas-solid chromatography method using a new combined chromatography and detection setup. The Mc isotope, 288Mc, was produced in the nuclear fusion reaction of 48Ca ions with 243Am targets at the GSI Helmholtzzentrum Darmstadt, Germany. After isolating 288Mc ions in the
We compute top quark pair production in association with a bottom quark pair at the LHC within the five-flavour scheme, matched to a parton shower, employing the FxFx merging scheme for tt¯+jets production with up to 2 jets at NLO accuracy. To enhance the selection efficiency for the events with b-jets within the inclusive five-flavour sample, we augment the generation probability of bottom quark
A number of species have recently recovered from near-extinction. Although these species have avoided the immediate extinction threat, their long-term viability remains precarious due to the potential genetic consequences of population declines, which are poorly understood on a timescale beyond a few generations. Woolly mammoths (Mammuthus primigenius) became isolated on Wrangel Island around 10,0
This paper provides analytical solutions to the closed-loop kinematics of two almost globally exponentially stabilizing attitude control laws on the special orthogonal group SO(n). By studying the general case we give a uniform treatment to the cases of SO(2) and SO(3), which are the most interesting dimensions for application purposes. Working directly with rotation matrices in the case of SO(3)
Manipulating the light polarization properties of gold nanoparticle aggregates can facilitate their applications in sensing and imaging. However, control of the intrinsic light polarization on demand at the nanoscale is hindered by the lack of a fundamental understanding of the structure-dependent plasmon coupling in the aggregates. Here, the polarization properties of intrinsic photoluminescence
In the period between 5,300 and 4,900 calibrated years before present (cal. bp), populations across large parts of Europe underwent a period of demographic decline1,2. However, the cause of this so-called Neolithic decline is still debated. Some argue for an agricultural crisis resulting in the decline3, others for the spread of an early form of plague4. Here we use population-scale ancient genomi
In this paper, we solve an inverse resonance problem for the half-solid with vanishing stresses on the surface: Lamb's problem. Using a semiclassical approach, we are able to simplify this three-dimensional problem of the elastic wave equation for the half-solid as a Schr\"odinger equation with Robin boundary conditions on the half-line. We obtain asymptotic values on the number and the location o
IMPORTANCE Numerous prospective cohort studies have reported a J-shaped association of urinary sodium excretion with cardiovascular events and mortality. OBJECTIVE To study the association between sodium intake and incident atrial fibrillation (AF). DESIGN, SETTING, AND PARTICIPANTS This cohort study included participants in the Ongoing Telmisartan Alone and in Combination with Ramipril Global End
Objective To compare experiences of the second stage of labour in women randomised to assistance by one or by two midwives to reduce severe perineal trauma (SPT). Design Analysis of a secondary outcome within the Swedish Oneplus multicentre randomised trial. Setting Five obstetric units in Sweden between December 2018 and March 2020. Participants Inclusion criteria in the Oneplus trial were women
Background: Many individuals with hypertension remain undiagnosed. We aimed to develop a predictive model for hypertension using diagnostic codes from prevailing electronic medical records in Swedish primary care. Methods: This sex- and age-matched case-control (1:5) study included patients aged 30–65 years living in the Stockholm Region, Sweden, with a newly recorded diagnosis of hypertension dur
The aim of this study was to identify a Bifidobacterium strain that improves the performance of Limosilactobacillus reuteri DSM 17938. Initial tests showed that Bifidobacterium longum subsp. longum strains boosted the growth of DSM 17938 during in vivo-like conditions. Further characterization revealed that one of the strains, BG-L47, had better bile and acid tolerance compared to BG-L48, as well
