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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report

Background: PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are similar. Elaborating robust criteria to identify loss-of-function variants in PALB2 - without incurring overprediction - is thus of paramount clinical relevance. Towards this aim, we have perf

Atrial fibrillation in cryptogenic stroke and transient ischaemic attack – The Nordic Atrial Fibrillation and Stroke (NOR-FIB) Study : Rationale and design

Purpose: Paroxysmal atrial fibrillation is often suspected as a probable cause of cryptogenic stroke. Continuous long-term ECG monitoring using insertable cardiac monitors is a clinically effective technique to screen for atrial fibrillation and superior to conventional follow-up in cryptogenic stroke. However, more studies are needed to identify factors which can help selecting patients with the

Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry

Hip geometry is an important predictor of fracture. We performed a meta-analysis of GWAS studies in adults to identify genetic variants that are associated with proximal femur geometry phenotypes. We analyzed four phenotypes: (i) femoral neck length; (ii) neck-shaft angle; (iii) femoral neck width, and (iv) femoral neck section modulus, estimated from DXA scans using algorithms of hip structure a

Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall lizard

Reptiles use pterin and carotenoid pigments to produce yellow, orange, and red colors. These conspicuous colors serve a diversity of signaling functions, but their molecular basis remains unresolved. Here, we show that the genomes of sympatric color morphs of the European common wall lizard (Podarcis muralis), which differ in orange and yellow pigmentation and in their ecology and behavior, are vi

Associations between intraoperative factors and surgeons’ self-assessed operative satisfaction

Background: Little is known concerning what may influence surgeon satisfaction with a surgical procedure and its associations with intraoperative factors. The objective was to explore the relationships between surgeons’ self-assessed satisfaction with performed radical prostatectomies and intraoperative factors such as technical difficulties and intraoperative complications as reported by the surg

Above- and belowground insect herbivory modifies the response of a grassland plant community to nitrogen eutrophication

Understanding the role that species interactions play in determining the rate and direction of ecosystem change due to nitrogen (N) eutrophication is important for predicting the consequences of global change. Insects might play a major role in this context. They consume substantial amounts of plant biomass and can alter competitive interactions among plants, indirectly shaping plant community com

Above‐and belowground insect herbivores mediate the impact of nitrogen eutrophication on the soil food web in a grassland ecosystem

Insect herbivores are important drivers of ecosystem processes in grasslands, and can mediate the grassland's response to environmental change. For example, recent evidence shows that above‐ and belowground herbivory, individually and in combination, can modify how a plant community responds to nitrogen (N) eutrophication, an important driver of global change. However, knowledge about how such eff

Long-term outcomes of patients with Takayasu arteritis and renal artery involvement : A cohort study

Objective. To describe the long-term outcomes of patients with Takayasu arteritis (TAK) and renal artery involvement (RAI). Methods. A retrospective review of 122 patients with TAK at three tertiary centres in Canada, Sweden and the UK. Data on demographics, laboratory and clinical parameters, medications and angiography findings were collected. Non-renal and renal parameters were compared at bas

Treatment of hypertensive left ventricular hypertrophy

Background: The development and risk potential of hypertension-induced left ventricular (LV) hypertrophy has been well described in epidemiological studies. Regression of LV hypertrophy reduces cardiovascular morbidity and mortality. However, the best treatment strategy is still debated, as well as the appropriate blood pressure target in these patients. Objective: We here review the treatment of

Theoretical model of droplets motions on solid surface with radial wettable and evaporation rate gradients

Wettability gradient in radial direction and evaporation rate gradient can cause droplet motion on a solid surface. Here a theoretical model is proposed. Besides, an equation of droplet velocity is derived on a solid surface. We consider the wettability and evaporation rate gradients are mainly caused by the chemical composition and surface roughness, only along the radial direction. Surface tensi

Investigation of bubble departure radius in subcooled pool boiling under microgravity condition

The bubble departure radius is a very important parameter for bubble dynamics during boiling heat transfer. In this study, experiments of highly subcooled nucleate pool boiling of FC-72 were conducted on two different sized silicon chips (chip S 2×2 and chip S 1×1) in short-term microgravity and normal gravity conditions by utilizing the drop tower in Beijing. During the experimental study, bubble

Depression and parental stress among Swedish fathers in the postnatal period: Screening and working through help-seeking barriers

Introduction/Objectives: The meta-analytical prevalence of paternal postnatal depression (PPND) is 8.4% (Cameron et al., 2016). However, measures for PPND are scarce and the commonly used Edinburgh Postnatal Depression Scale (EPDS) has low sensitivity, as many men express depression with somatization and/or externalizing symptoms. Recent studies show higher prevalences, indicating that affected me

Spectral design of signal-adapted tight frames on graphs

Analysis of signals defined on complex topologies modeled by graphs is a topic of increasing interest. Signal decomposition plays a crucial role in the representation and processing of such information, in particular, to process graph signals based on notions of scale (e.g., coarse to fine). The graph spectrum is more irregular than for conventional domains; i.e., it is influenced by graph topolog