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Background Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both
Popular Abstract in Swedish I Sverige analyseras omkring 40 000 DNA-prover från brottsplatser varje år. DNA-profilerna jämförs mot DNA-profiler från misstänkta personer och kan på så vis användas för att knyta en person till ett brott. Alla typer av kroppsvävnader kan analyseras, såsom blod, saliv och hudceller. Vanliga bevismaterial är cigarettfimpar, flaskor, burkar och kläder. De material som cDNA evidence, linking perpetrators to crime scenes, is central to many legal proceedings. However, crime scene samples often contain extraneous substances that may interfere with the PCR-based forensic analysis, resulting in partial or negative DNA profiles. Extensive DNA purification may remove inhibitors, but involves the risk of DNA loss. In this work, pre-PCR processing was applied to improve
Excessive use of water resources in combination with climate change threaten to significantly reduce groundwater in arid and semiarid regions. We studied the effects of climate change on the groundwater level for the important Dehgolan Aquifer in northwestern Iran. The water level in this aquifer has dropped by about 35 m during the last 30 years. Soft computing techniques were used together with
BACKGROUND: Both COVID-19 and its associated societal restrictions have affected individuals' health and everyday life. In Sweden, more lenient public health restrictions were implemented, with individuals asked to act responsibly in terms of reducing spread of disease. The majority of studies reporting on experiences of Covid-19 restrictions have been in the context of more substantial mandatory
BackgroundCorrect ABO blood-group matching between donor and patient is crucial for safe transfusions. We investigated the underlying reason causing inconclusive ABO serology in samples referred to our laboratory.Study Design and MethodsFlow cytometric analysis, ABO genotyping, and sequencing were used to characterize ABO-discrepant blood samples (n = 13). ABO gene variants were inserted in a GFP-
BACKGROUND: Although most pediatric radial neck fractures can be treated with either immobilization alone or closed reduction and immobilization, a small subset result in permanent loss of motion despite surgical management. We sought to characterize the most problematic fractures and correlate final outcomes with both presenting fracture characteristics and the reduction achieved through surgical
Introduction Asthma may increase the risk of comorbidities and systemic inflammation, but population data are scarce. This study aimed to compare comorbidities and systemic inflammation between those with and without current asthma and to identify characteristics linked to comorbidities and biomarkers. Methods In a cross-sectional analysis of 28 828 people aged 50–64 in the Swedish CArdioPulmonary
Background Suicide is more common among males and in older age, but the understanding of sex-specific and age-specific risk indicators is limited. Objective To describe the sex-specific and age-specific prevalence of 25 suicide risk indicators in the year preceding suicide and estimate their associations with suicide. Methods Register-based population-nested case-control study in Sweden, 2009–2021
Background Human papillomavirus (HPV) is associated with an increased risk for a variety of squamous cell carcinomas in the general population. The risk for subsequent squamous cell carcinomas in blood or marrow transplantation survivors that are potentially related to HPV (cervical, oropharyngeal, vulvar, vaginal, anal, and penile cancer; HPV-related squamous cell carcinomas) remains unknown. Met
Objectives: To analyze device designs, similarities and overlaps of custom-made fenestrated arch endografts intended for mid/distal arch thoracic endovascular aortic repair. Materials and Methods: A multicenter cross-sectional study analyzing custom-made anonymized graft plans was performed. Graft plans were included from a cohort of mid/distal aortic arch repairs using custom-made fenestrated aor
BACKGROUND AND OBJECTIVES: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by 3 core symptom complexes: parkinsonism, cerebellar syndrome, and dysautonomia. Recent Movement Disorder Society (MDS) criteria allow for the clinical diagnosis of MSA based solely on motor symptoms, without requiring dysautonomia. This study aimed to evaluate the frequency and disease trajecto
Objective: Foetal growth restriction (FGR) affects 10% of pregnancies, contributing to 30% of stillbirths. Current management of early-onset FGR (< 32 + 0 weeks' gestation) delivers the foetus before stillbirth or irreversible organ damage. The resulting preterm births create additional risks independent of FGR. We determined the economic cost associated with severe early-onset FGR. Design: Econom
BACKGROUND: Patients receiving intraoperative ventilation during general anesthesia often have low end-tidal CO2 (etCO2). We examined the association of intraoperative etCO2 levels with the occurrence of postoperative pulmonary complications (PPCs) in a conveniently-sized international, prospective study named 'Local ASsessment of Ventilatory management during General Anesthesia for Surgery' (LAS
INTRODUCTION: Parents can act as important agents of change and support for healthy childhood growth and development. Studies have found that parents may not be able to accurately perceive their child's weight status. The purpose of this study was to measure parental perceptions of their child's weight status and to identify predictors of potential parental misperceptions.METHODS: We used data fro
BACKGROUND: A significant proportion of acute myocardial infarction (AMI) patients have characteristics of high-bleeding -risk (HBR). Their influence on ischaemic and bleeding-events in AMI all-comers is not well described.METHODS: AMI Patients in England and Wales (E&W), and Sweden between 2005 and 2019 were included from MINAP and SWEDEHEART national registries. Patients were categorised acc
Introduction: Consensus is lacking regarding the upper limit for a safe contraction frequency during labor. We aimed to assess the association between different contraction frequencies and acidemia at birth, and whether an association was affected by oxytocin augmentation, concomitant cardiotocography (CTG) classification, and stage of labor. Material and Methods: This is a case–control study base
OBJECTIVES: We assessed the prevalence of neurodevelopmental disabilities (NDDs; cognition, cerebral palsy, vision/hearing, epilepsy), attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), developmental coordination disorder (DCD), behavior problems, and multimorbidity in a national cohort of children born extremely preterm (EPT, <27-week gestation) to provide a comprehe
Hummeln is a simple impact structure located in south-eastern Sweden. It is approximately 1.2 km in diameter and almost completely covered by a lake. Here, we present the first detailed investigation of impactites and mapping of the 164.25 m deep drill core Hummeln-1 with a focus on impact metamorphism and the impact process. We find that the drilling has penetrated a complex sedimentary successio
Introduction: The prevalence of overweight and obesity in children and adolescents continues to rise, and there is a lack of long-term follow-up to clarify health and well-being trajectories into adolescence and adulthood. This study investigated anthropometry and quality of life (QoL) trajectories in 7-14-year-old vulnerable children three years after attending a lifestyle camp. Methods: Vulnerab
