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Importance: Aortic stenosis (AS) has no approved medical treatment. Identifying etiological pathways for AS could identify pharmacological targets. Objective: To identify novel genetic loci and pathways associated with AS. Design, Setting, and Participants: This genome-wide association study used a case-control design to evaluate 44703 participants (3469 cases of AS) of self-reported European ance

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High hyperdiploid acute lymphoblastic leukemia (ALL) is one of the most common malignancies in children. The main driver event of this disease is a nonrandom aneuploidy consisting of gains of whole chromosomes but without overt evidence of chromosomal instability (CIN). Here, we investigated the frequency and severity of defective sister chromatid cohesion—a phenomenon related to CIN—in primary pe

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How do fungi navigate through the complex microscopic maze-like structures found in the soil? Fungal behaviour, especially at the hyphal scale, is largely unknown and challenging to study in natural habitats such as the opaque soil matrix. We monitored hyphal growth behaviour and strategies of seven Basidiomycete litter decomposing species in a micro-fabricated "Soil Chip" system that simulates pr

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BACKGROUND: The Chronic Kidney Disease in Children Study (CKiD) equation for children and the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation for adults are recommended serum creatinine (SCr)-based calculations for estimating glomerular filtration rate (GFR). However, these equations, as well as their combination, have limitations, notably the problem of implausible changes in

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Aim: The overall aim of was to investigate the impact of self-reportedallergic disease on physical activity (PA) and health-related quality oflife (HRQoL) among adolescents.Methods: A cross-sectional analysis of 1 181 adolescents aged 13-14years (251 with current allergic disease), participating in the baselineinvestigation of the Southern Sweden allergy cohort, including a surveywith questions on

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Material decomposition in computed tomography is a method for differentiation and quantification of materials in a sample and it utilizes the energy dependence of the linear attenuation coefficient. In this study, a post-image reconstruction material decomposition method is constructed for a low-energy micro-CT setup using a photon counting x-ray detector. The low photon energy range (4–11 keV) al

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ABSTRACT: In this observational study, by the use of a multiplex proteomic platform, we aimed to explore associations between 92 targeted proteins involved in cardiovascular disease and/or inflammation, and phenotypes of deteriorating vascular health, with regards to ethnicity.Proteomic profiling (92 proteins) was carried out in 362 participants from the Sympathetic activity and Ambulatory Blood P

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In the context of the COVID-19 pandemic, we aim to identify and understand the obstacles and barriers in applying electronic exams successfully in the process of distance education. We followed an exploratory descriptive approach through a questionnaire (one general, open question) with a sample of university teachers and students in four of the largest universities Palestinian in Gaza. A total of

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The aryl hydrocarbon receptor (AhR) is a master regulator of multiple pathways involved in breast cancer, and influences the estrogen receptor alpha (ER) and aromatase/CYP19A1. The purpose of this study was to elucidate the interplay between intratumoral levels of AhR and aromatase, patient characteristics (including AhR and CYP19A1 genotypes), clinicopathological features, and prognosis in breast

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The detrimental effects of increased length of stay at the emergency department (ED-LOS) for patient outcome have been sparsely studied in the Swedish setting. Our aim was to further explore the association between ED-LOS and short-term mortality in patients admitted to the EDs of two large University hospitals in Sweden. All adult patients (> 18 years) visiting the ED at the Karolinska University

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Objective: To describe a possible novel genetic mechanism for cerebral small vessel disease (cSVD) and stroke.Methods: We studied a Swedish kindred with ischemic stroke and intracerebral hemorrhage, tremor, dysautonomia, and mild cognitive decline. Members were examined clinically, radiologically, and by histopathology. Genetic workup included whole-exome sequencing (WES) and whole-genome sequenci

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Background: Mechanical knee symptoms are often considered important in the decision to perform knee arthroscopy on the suspicion of a meniscal tear. We investigated if presence of a meniscal tear at knee arthroscopy in adults is associated with presence of preoperative self-reported mechanical knee symptoms. Methods: We used data from Knee Arthroscopy Cohort Southern Denmark (KACS). KACS consists

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We have previously shown that there is a distinct longitudinal movement of the arterial wall during a cardiac cycle. This movement is larger in the intima-media region than in the adventitial region which introduces a substantial shear strain within the arterial wall. Our previously developed echo-tracking algorithm measured this shear strain by tracking two separate echoes, one in the intima-medi

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Cancer-associated fibroblasts (CAFs) are a major constituent of the tumor microenvironment, although their origin and roles in shaping disease initiation, progression and treatment response remain unclear due to significant heterogeneity. Here, following a negative selection strategy combined with single-cell RNA sequencing of 768 transcriptomes of mesenchymal cells from a genetically engineered m

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Diamond-Blackfan anemia (DBA) is a bone marrow failure syndrome caused by mutations in ribosomal protein genes. Pathogenic mechanisms are poorly understood but involve severely reduced proliferation of erythroid precursors. Because current DBA therapies are ineffective and associated with severe side effects, disease-specific therapies are urgently needed. We hypothesized that druggable molecular

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Background: Breathlessness, the subjective sensation of breathing discomfort, is common and appears in the daily life of people with cardiorespiratory diseases. Physicians often rely on patient's history based on symptom recall. The relation between recalled and experienced breathlessness is still poorly understood. This paper presents the protocol for a study primarily aimed at evaluating the rel

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Site-specific land management practice taking into account variability in maize yield gaps (the difference between yields in the 90th percentiles and other yields on smallholder farmers’ fields) could improve resource use efficiency and enhance yields. However, the applicability of the practice is constrained by inability to identify patterns of resource utilization to target application of resour