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Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-
HIPPIE is a soft X-ray beamline on the 3 GeV electron storage ring of the MAX IV Laboratory, equipped with a novel ambient-pressure X-ray photoelectron spectroscopy (APXPS) instrument. The endstation is dedicated to performing in situ and operando X-ray photoelectron spectroscopy experiments in the presence of a controlled gaseous atmosphere at pressures up to 30 mbar [1 mbar = 100 Pa] as well as
Sleep problems and short sleep duration have been linked to adverse health effects, such as cardiovascular disease and diabetes, but the mechanisms are not fully understood. Finding biomarkers could explain mechanistic pathways and help in understanding relationships between sleep and cardiometabolic health. The aim was to assess if sleep duration and sleep quality affect the cardiometabolic-relat
Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast majority of studies focusing on disease mechanisms of Sanfilippo syndrome were performed on non-neural cells or mouse models, which present obvious limitations. Induced pluripotent stem cells (iPSCs) are an efficient way to model human dis
Streptococcus pneumoniae (pneumococcus) resides asymptomatically in the nasopharynx but can progress from benign colonizer to lethal pulmonary or systemic pathogen. Both viral infection and aging are risk factors for serious pneumococcal infections. Previous work established a murine model that featured the movement of pneumococcus from the nasopharynx to the lung upon nasopharyngeal inoculation w
Organ-specific autoimmune diseases, such as type 1 diabetes, are believed to result from T-cell-mediated damage of the target tissue. The immune-mediated tissue injury, in turn, is known to depend on complex interactions between genetic and environmental factors. Nevertheless, the mechanisms whereby environmental factors contribute to the pathogenesis of autoimmune diseases remain elusive and repr
Controlling the nucleation and crystal growth in solution-processed metal halide perovskite (MHP) thin films is the pivotal point in fabricating homogenous and pinhole-free films. Using scalable coating and printing techniques, vacuum and gas flow-assisted drying processes turn out to be the most promising methods to induce nucleation and crystallization. Yet, the exact interplay and nature of the
A promise of genomics in precision medicine is to provide individualized genetic risk predictions. Polygenic risk scores (PRS), computed by aggregating effects from many genomic variants, have been developed as a useful tool in complex disease research. However, the application of PRS as a tool for predicting an individual's disease susceptibility in a clinical setting is challenging because PRS t
Parkinson’s disease (PD) is a complex, progressive neurological condition that impacts daily life and reduces life satisfaction (LS). To achieve and maintain high LS, persons with PD (PwPD) must go through a process of change to adapt to their new life situation. However, our knowledge about this process is very limited. The aim of this study was to investigate the process of change, and the main
A diabetic foot ulcer (DFU) is a common and serious complication of diabetes. It is today the leading cause of amputations and is associated with both increased morbidity and mortality. Individuals with DFU have 2.5 times higher mortality rates compared to patients with diabetes but without DFU, a risk that persists even after ulcer healing. Macrovascular complications, such as a higher burden of A diabetic foot ulcer (DFU) is a common and serious complication of diabetes. It is today the leading cause of amputations and is associated with both increased morbidity and mortality. Individuals with DFU have 2.5 times higher mortality rates compared to patients with diabetes but without DFU, a risk that persists even after ulcer healing. Macrovascular complications, such as a higher burden of
Biogeochemical models use meteorological forcing data derived with different approaches(e.g. based on interpolation or reanalysis of observation data or a hybrid hereof) to simulateecosystem processes such as gross primary productivity (GPP). This study assesses theimpact of different widely used climate datasets on simulated gross primary productivity andevaluates the suitability of them for repr
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer
Partially premixed combustion aims to reduce NOx and particulate matter emission without fuel consumption penalty. Low temperature reactions are important for the partially premixed combustion. In the current study, a self-adaptive strategy is introduced to predict the motoring pressure by means of an equivalent isentropic index. The start of the low temperature reactions is detected when the pres
Energy intensive industries (EIIs), producing the basic materials and products needed in society, contribute significantly to global emissions of greenhouse gases (GHGs). Motivated by the fear of carbon leakage, climate policy has so far treated the EIIs leniently with e.g. low carbon prices and/or free allocation of emission allowances. This has not resulted in more than marginal emission abatemeEnergy intensive industries (EIIs), producing the basic materials and products needed in society, contributesignificantly to global emissions of greenhouse gases (GHGs). Motivated by the fear of carbon leakage, climatepolicy has so far treated the EIIs leniently with e.g. low carbon prices and/or free allocation of emissionallowances. This has not resulted in more than marginal emission abatement.
BACKGROUND: Chronic obstructive pulmonary disease (COPD) and asthma are common diseases with a heterogeneous distribution worldwide. Here, we present methods and disease and risk estimates for COPD and asthma from the Global Burden of Diseases, Injuries, and Risk Factors (GBD) 2015 study. The GBD study provides annual updates on estimates of deaths, prevalence, and disability-adjusted life years (
Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) dat
Women with a history of hypertensive disorders of pregnancy (HDP; preeclampsia and gestational hypertension) or delivering low birth weight offspring (LBW; < 2500 g) have twice the risk of cardiovascular disease (CVD). We aimed to study the extent to which history of these pregnancy complications improves CVD risk prediction above and beyond conventional predictors. Parous women attended standardi
Although conventional computer technology made a huge leap forward in the past decade, a vast number of computational problems remain inaccessible due to their inherently complex nature. One solution to deal with this computational complexity is to highly parallelize computations and to explore new technologies beyond semiconductor computers. Here, we report on initial results leading to a device
STUDY QUESTION: Is there an association between the number of oocytes retrieved for IVF, and perinatal and obstetric outcomes? SUMMARY ANSWER: No significant association was found between the number of oocytes retrieved and perinatal outcomes, while an association was found for placenta praevia and male gender. WHAT IS KNOWN ALREADY: Previous studies have shown that between 6 and 15 oocytes retrie
AIMS: Diagnosing heart failure with preserved ejection fraction (HFpEF) remains challenging, particularly in older individuals. We hypothesized that machine learning (ML) approaches could improve diagnostic accuracy compared with HFpEF scores.METHODS: We evaluated the diagnostic performance of four supervised ML algorithms (random forest [RF], extreme gradient boosting [XGBoost], support vector ma
