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Background: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods: We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and val
Background: Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae.
This paper presents an experimental study on the leaching of heavy metals, toxic chemicals and persistent organic pollutants (POPs) – PAH, PCB and HCB – from soil dredged from the coastal area of Västernorrland in northern Sweden. The soil was stabilized with cement/slag. Samples were subjected to modified surface leaching and shake tests using technical standards of the Swedish Geotech-nical Inst
Background: Intraventricular hemorrhage causes significant lifelong mortality and morbidity, especially in preterm born infants. Progress in finding an effective therapy is stymied by a lack of preterm animal models with long-term follow-up. This study addresses this unmet need, using an established model of preterm rabbit IVH and analyzing outcomes out to 1 month of age. Methods: Rabbit pups were
Background: Out-of-hospital cardiac arrest (OHCA) is a leading cause of death. Even if successfully resuscitated, mortality remains high due to ischemic and reperfusion injury (I/R). The oxygen deprivation leads to a metabolic derangement amplified upon reperfusion resulting in an uncontrolled generation of reactive oxygen species in the mitochondria triggering cell death mechanisms. The understan
In recent years, significant effort has been devoted to develop nanotechnology for drug delivery since it offers a suitable means of delivering small molecular weight drugs, as well as macromolecules such as proteins, peptides or genes by either localized or targeted delivery to the tissue of interest. Nanotechnology focuses on formulating therapeutic agents in biocompatible nanocomposites such as
It is well-known that an ideal extraction method enabling quantitative analysis should give complete extraction of the target analytes as well as minimal co-extraction of unwanted matrix substances. If the extraction method is part of a nontarget screening protocol, the desired analytes can differ widely in terms of chemical properties. In chromatography, terminologies such as recovery, selectivit
Transmission electron microscopy (TEM) is an atomic resolution technique that allows for in depth analysis of the properties of different materials by passing high energy electrons through a thin sample and detecting how they are affected. However, due to the strong interaction between electrons and matter, the probability of the sample remaining unperturbed by the electron irradiation is small. T
Background: There is no national screening programme for prostate cancer in Sweden. Instead, population-based organised prostate cancer testing (OPT) projects are introduced to make information and testing more equal and effective. Objective: To evaluate men's perception of being invited to OPT and of the information in the invitation letter, and whether their perception is influenced by education
We describe the case of a 30-year-old woman, who needed a formal report on her visual impairment to seek support from society. She was born preterm, and during her neonatal period, she suffered from bilateral intraventricular hemorrhage (IVH) grade 3, a condition that can cause cerebral visual impairment (CVI) due to damage to the retro-geniculate visual pathways. Individuals with such brain damag
This paper aims to evaluate the effects of blended binders on the development of strength in moraine soils by optimising the proportion of several binders. We tested three types of soil as a mixture of moraine soils: A (sandy clay), B (clayey silt) and C (silty clay), collected in southern Sweden. The soil was compacted using a modified Proctor test using the standard SS-EN 13286-2:2010 to determi
Left ventricular shape alterations predict cardiovascular outcomes and have been observed in children born preterm and after fetal growth restriction (FGR). The aim was to investigate whether left ventricular shape is altered in adolescents born very preterm and if FGR has an additive effect. Adolescents born very preterm due to verified early-onset FGR and two control groups with birthweight appr
Burst-mode laser systems have widely been employed in diagnostics for both reactive and non-reactive flows. Unlike the continuous pulse lasers, burst-mode lasers generate pulses in bursts lasting up to 100 ms, capable to deliver high energies up to Joules per pulse. This high energy fluency is optimal for effective wavelength conversion and tuning, enabling simultaneous measurements of various spe
PAM50 gene expression subtypes represent a cornerstone in the molecular classification of breast cancer and are included in risk prediction models to guide therapy. We aimed to illustrate the impact of included genes and biological processes on subtyping while considering a tumor’s underlying clinical subgroup defined by ER, PR, and HER2 status. To do this we used a population-representative and c
Background: Multiple system atrophy is a neurodegenerative disease with α-synuclein aggregation in glial cytoplasmic inclusions, leading to dysautonomia, parkinsonism, and cerebellar ataxia. Objective: The aim of this study was to validate the accuracy of the International Parkinson and Movement Disorder Society Multiple System Atrophy clinical diagnostic criteria, particularly considering the imp
BackgroundProenkephalin A 119-159 (PENK) is freely filtered in the glomerulus with plasma levels correlating with glomerular filtration rate. Therefore, PENK has been proposed as an early indicator of acute kidney injury (AKI) although its performance is dependent on the clinical setting. This meta-analysis aimed to investigate the correlation between PENK levels and the development of AKI.Methods
The widespread deployment of digital technologies has made the globe an interconnected world. Among other necessities of the digitalized world, cybersecurity is a crucial component. Therefore, education and proper training of the cybersecurity workforce are essential for building a strong national and global community. However, a significant shortage of proficient cybersecurity experts is reported
Most often, the laminar burning velocity (SL) of ammonia was measured in mixtures diluted by nitrogen bearing in mind its potential use as an alternative carbon-free fuel. Replacing the diluent with argon can increase the flame temperature and thus provide additional targets for validating pertinent detailed kinetic models. The SL data for ammonia + oxygen + argon mixtures are scarce; therefore, i
