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BACKGROUND: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain
Purpose: To compare the effects of ageing and glaucoma progression on the thickness of the circumpapillary retinal nerve fibre layer (cpRNFL) and to evaluate the performance of a set of optical coherence tomography (OCT) progression analyses. Methods: The cpRNFL was measured twice by OCT at each of two visits made 10 years apart in 69 healthy individuals and 49 glaucoma patients. Both visits also
In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier- and prenatal diagnosis and prediction of risk for development of inhibitors. The PedNet Registry collects clinical, genetic and phenotypic data prospectively on >2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to HGVS nomenclature and re-evaluated using international
Introduction Patient outcome measures are required to assess the quality of healthcare. Tools for a patients' self-assessment of quality of recovery, during perioperative care, have been developed during the last decade. The Postoperative Quality of Recovery Scale (PostopQRS) questionnaire is one of the most well-accepted and validated tools available. Here we assess the PostopORS questionnaire in
The present article describes the approaches of five ensembles specialized in transcultural music-making in the context of contemporary music in Germany, the Netherlands, Uzbekistan and Turkey. While facing similar underlying conceptual and practical challenges in the process of combining different musical traditions and cultural backgrounds, such as the question of how to merge oral and notated t
Hip fractures are a major health problem with high socio-economic costs. Subject-specific finite element (FE) models have been suggested to improve the fracture risk assessment, as compared to clinical tools based on areal bone mineral density, by adding an estimate of bone strength. Typically, such FE models are limited to estimate bone strength and possibly the fracture onset, but do not model t
Objective Survival in epithelial ovarian cancer (EOC) remains poor. Most patients are diagnosed in late stages. Early diagnosis increases the chance of survival. We used the proximity extension assay from Olink Proteomics to search for new protein biomarkers with the potential to improve the diagnostic performance of CA125 and HE4 in patients with ovarian tumors. Material and methods Plasma sample
Background: Atrial fibrillation/atrial flutter (AF/AFL) burden increases with increasing duration of AF/AFL history. Hypothesis: Outcomes with dronedarone may also be impacted by duration of AF/AFL history. Methods: In this post hoc analysis of ATHENA, efficacy and safety of dronedarone vs placebo were assessed in groups categorized by time from first known AF/AFL episode to randomization (ie, dur
In a recent communication on carbon isotope chemostratigraphy of the uppermost Cambrian strata, it was claimed that the Top of Cambrian Excursion (TOCE) is (1) an undocumented negative δ13Ccarb excursion; (2) ambiguously defined; (3) deliberately fictitious or, in the authors’ words, a ‘nihilartikel’; and (4) not synonymous with the Hellnmaria–Red Tops Boundary (HERB) Event. As the authors who hav
In the search for risk factors involved in the etiology of lymphoproliferative malignancies there is still inconsistent evidence regarding effects of smoking tobacco, and the role of smokeless tobacco is poorly investigated. New evidence indicates that excess body weight increases the risk of NHL and HD. To determine if tobacco use of various forms and high Body Mass Index (BMI) affect the occurre
We report measurements of atmospheric composition over a tropical rainforest and over a nearby oil palm plantation in Sabah, Borneo. The primary vegetation in each of the two landscapes emits very different amounts and kinds of volatile organic compounds (VOCs), resulting in distinctive VOC fingerprints in the atmospheric boundary layer for both landscapes. VOCs over the Borneo rainforest are domi
Background: Life expectancy is increasing all over the world. To be able to support this positive development, health interventions focusing on promotion and prevention are crucial. Preventive home visits represent one example of a health intervention which addresses both promotion through a supportive dialogue and prevention by giving advice. However, to give support and advice that older persons
Bees exemplify flights under bright sunlight. A few species across bee families have evolved nocturnality, displaying remarkable adaptations to overcome limitations of their daylight-suited apposition eyes. Phase inversion to nocturnality in a minority of bees that co-exist with diurnal bees provides a unique opportunity to study ecological benefits that mediate total temporal niche shifts. While
Though poetry analysis is a central component of literary studies in higher education, research frequently reports that attitudes of both students and teachers to its incorporation in syllabi are mixed (Weaven & Clark, 2014). Previous research suggests a complex relationship between attitudes to and knowledge of poetry with some studies indicating that negative attitudes might be the result of
A fundamental aspect of the "I" of conscious experience is that the self is experienced as a single coherent representation of the entire, spatially situated body. The purpose of the present study was to investigate agency for the entire body. We provided participants with performance-related auditory cues and induced online sensorimotor conflicts in free walking conditions investigating the limit
