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Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using sequence data from >170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African,
In most cases, direct X-ray fluorescence (XRF) analysis of solutions entails technical difficulties due to a high X-ray scattering background resulting in a spectrum with a poor signal-to-noise ratio (SNR). Key factors that determine the sensitivity of the method are the energy resolution of the detector and the amount of scattered radiation in the energy range of interest. Limiting the width of t
Aim: Analysis of age at time of detection and surgery of dense unilateral cataract and investigation of best-corrected visual acuity (BCVA) in a nationwide register-based cohort study, based on the routine of maternity ward eye screening. Methods: Data were derived from the Paediatric Cataract Register (PECARE). All children (n = 54) diagnosed with dense congenital unilateral cataract between Janu
Background: Cancer immunity is based on the interaction of a multitude of cells in the spatial context of the tumour tissue. Clinically relevant immune signatures are therefore anticipated to fundamentally improve the accuracy in predicting disease progression. Methods: Through a multiplex in situ analysis we evaluated 15 immune cell classes in 1481 tumour samples. Single-cell and bulk RNAseq data
Background: The technical skills of a surgeon influence surgical outcome. Testing technical aptitude at point of recruitment of surgical residents is only conducted in a few countries. This study investigated the impact of visuospatial ability (VSA), background factors, and manual dexterity on performance in two different laparoscopic surgical simulators amongst applicants and 1st year surgical re
BACKGROUND AND AIMS: The homeostatic chemokines CCL21 and CCL19 have been explored as biomarkers in cardiovascular disease prediction in patients with established cardiovascular disease, but associations between these chemokines and first-time coronary event incidence have not been investigated before. Here, we explored associations between CCL21 or CCL19 and first-time incident coronary events in
Background: The underlying factors of the male predominance in Autism Spectrum Disorders (ASD) are largely unknown, although a female advantage in social communication has been pointed out as a potential factor. Recently, attention has been given to ASD as a sensory processing disorder, focusing on the audio-visual temporal processing paramount for the development of communication. In ASD, a devia
Birds breeding in urban environments have lower reproductive output compared to rural conspecifics, most likely because of food limitation. However, which characteristics of urban environments may cause this deficiency is not clear. Here, we investigated how tree composition within urban territories of passerine birds is associated with breeding probability and reproductive success. We used 7 year
Research and Development (R&D) in the pharmaceutical sector traditionally occurred in closed, siloed institutional settings. This approach was a function of a rights-oriented model which framed access and reuse of data (data sharing) as a threat to rights-holders. However, a closed model of explorative collaboration is less suited to today’s more complex scientific ecosystem, where external en
Introduction: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca. Materials and methods: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium. Patients with a cloacal malformation, 4–17 years of
Intronic single-nucleotide polymorphisms (SNPs) in FOXO3A are associated with human longevity. Currently, it is unclear how these SNPs alter FOXO3A functionality and human physiology, thereby influencing lifespan. Here, we identify a primate-specific FOXO3A transcriptional isoform, FOXO3A-Short (FOXO3A-S), encoding a major longevity-associated SNP, rs9400239 (C or T), within its 5′ untranslated re
Background Although physiology-based assessment of coronary artery stenosis using instantaneous wave-free ratio (iFR) and fractional flow reserve (FFR) are established methods of guiding coronary revascularization, its clinical outcome in long-term deferral needs further evaluation, especially with acute coronary syndrome as a clinical presentation. The aim was to evaluate the long-term clinical o
Objective: Little is known to what extent access to specialist palliative care (SPC) for cancer patients dying with coronavirus disease-2019 (COVID-19) affects the occurrence of breakthrough symptoms, symptom relief, and overall care, compared to hospital deaths. Our aim was to include patients with both COVID-19 and cancer and compare those dying in hospitals with those dying in SPC with referenc
Objectives: The aim was to explore the association between neighborhood deprivation and all-cause mortality and cause-specific mortalities in patients with schizophrenia and bipolar disorder. A better understanding of this potential relationship may help to identify patients with schizophrenia and bipolar disorder with an increased mortality risk. Methods: This nationwide study included practicall
Objectives Little is known about figure skaters’ mental health. This study aimed to describe anxiety and depression caseness (defined as a screening condition qualifying for psychiatric examination) in competitive figure skaters and analyse factors associated with such caseness.Methods A cross-sectional study was performed in April 2019 among all competitive figure skaters in the south-eastern reg
