Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci.

Northern forest soils are a major carbon (C) reservoir of global importance. To estimate how the C balance in these soils will change, the roles of tree roots and soil microbes in C balance should first be decoupled. This study determined how the activity of heterotrophs and tree roots together with root-associated microbes in the rhizosphere varies in coniferous forest soils in boreal, hemiboreal

A key policy question is whether continued expansion of university education is beneficial for the marginally eligible student. In this paper we exploit an arbitrary university eligibility rule combined with regression discontinuity design to estimate the causal effect of university attendance on healthcare utilization amongst young adults in Sweden. We find that the eligibility rule leads to a cl

Mutations in either mitochondrial DNA (mtDNA) or nuclear genes that encode mitochondrial proteins may lead to dysfunctional mitochondria, giving rise to mitochondrial diseases. Some mitochondrial myopathies, however, present without a known underlying cause. Interestingly, methylation of mtDNA has been associated with various clinical pathologies. The present study set out to assess whether mtDNA

Only well-maintained railway systems can function without severe interruptions. However,maintenance activities can themselves cause train delays if they conflict with trainmovements. Trackwork refers to maintenance performed on a railway track. This studyaims to investigate the effect of trackwork on train delays in Sweden. It presents a logisticregression analysis based on more than 225,000 plannOnly well-maintained railway systems can function without severe interruptions. However, maintenance activities can themselves cause train delays if they conflict with train movements. Trackwork refers to maintenance performed on a railway track. This study aims to investigate the effect of trackwork on train delays in Sweden. It presents a logistic regression analysis based on more than 225,000 p

PURPOSE: To compare two aflibercept treatment regimens and the electrophysiological outcome concerning cone and rod function in age-related macular degeneration (nAMD) over 18 months.METHODS: 41 patients with treatment-naïve nAMD were randomized 1:1 to either arm 1 or 2. Arm 1 received three consecutive monthly aflibercept injections, followed by bimonthly treatment until week 52. Thereafter, a tr

PURPOSE: To evaluate retinal function in children taking vigabatrin and to explore the influence of age and dose parameters on the results of full-field electroretinography (ff-ERG).METHODS: The ff-ERGs from 14 children receiving vigabatrin were compared with ff-ERGs from healthy controls. Treated children were further grouped according to age (pre-school = 12-71 months; older = 72-228 months). Pa

Objective To examine associations of pain sensitisation with tender and painful joint counts and presence of widespread pain in people with hand osteoarthritis (OA). Methods Pressure pain thresholds (PPT) at a painful finger joint and the tibialis anterior muscle, and temporal summation (TS) were measured in 291 persons with hand OA. We examined whether sex-standardised PPT and TS values were asso

Background: High intake of added sugar have been suggested to impact the risk for cardiovascular disease (CVD). Knowledge on the subject can contribute to preventing CVD. Objectives: To assess the effects of a high versus low-added sugar consumption for primary prevention of CVD in the general population. Search methods: We searched Cochrane Central Register of Controlled Trials (CENTRAL) in the C

A surveillance strategy of the heritable TP53-related cancer syndrome (hTP53rc), commonly referred to as the Li–Fraumeni syndrome (LFS), is studied in a prospective observational nationwide multi-centre study in Sweden (SWEP53). The aim of this sub-study is to evaluate whole-body MRI (WB-MRI) regarding the rate of malignant, indeterminate, and benign imaging findings and the associated further wor

Introduction: Alcohol use disorder (AUD) has been identified as a strong risk factor for suicide attempt. However, few studies have considered protective factors that may moderate this association, such as resilience. Methods: We used longitudinal nationwide Swedish data of 903,333 males born 1960–1980 and 48,285 males born 1949–1951. We performed Cox proportional hazards models to test the role o

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with ventricular arrhythmias (VA) and sudden cardiac death (SCD). A model was recently developed to predict incident sustained VA in patients with ARVC. However, since this outcome may overestimate the risk for SCD, we aimed to specifically predict life-threatening VA (LTVA) as a closer surrogate for SCD. Methods: We

Multichannel-quantum-defect theory (MQDT) analyses were carried out for the J=0, 1, and 2 even-parity Rydberg series level of Pb I. The MQDT wave functions of each level were obtained. With the wave functions and employing the experimental lifetimes and Landé (gJ) factors measured previously, the theoretical lifetimes of J=0,1, and 2 levels were evaluated as well as the theoretical gJ factors of J

Ammonia (NH3) is a sustainable fuel with excellent emission characteristics. Hence, it is important to develop diagnostic techniques for NH3 combustion. In this paper, femtosecond laser-induced plasma spectroscopy (FLIPS) was performed in premixed NH3∕air flames. The plasma emission spectra induced by the femtosecond laser in the flame and the chemiluminescence spectra of the flame itself were bot

A text may be seen as the result of input from the external world and human internal aspects on it. The paper shows how the same event — a submarine following a trawler — may give rise to different types (genres) of text, e.g., a report on the facts, an evaluation of the facts, a summary of the most important features against the background of previous events, or a mixture of some or all of these.

Aim: Identifying how climate change, habitat loss, and corridors interact to influence species survival or extinction is critical to understanding macro-scale biodiversity dynamics under changing environments. In North America, the ice-free corridor was the only major pathway for northward migration by megafaunal species during the last deglaciation. However, the timing and interplay among the lat