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Variants in HNF1A encoding hepatocyte nuclear factor 1a (HNF-1A) are associated with maturity-onset diabetes of the young form 3 (MODY 3) and type 2 diabetes. We investigated whether functional classification of HNF1A rare coding variants can inform models of diabetes risk prediction in the general population by analyzing the effect of 27 HNF1A variants identified in well-phenotyped populations (n

Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian,

Background: Effective interventions are needed to increase physical activity in the general population. To target interventions, we need knowledge of insuffciently active groups in society. This study aims to identify demographic and health-related correlates of leisure-time physical inactivity in a general Scandinavian population. Methods: Study participants comprised 5734 control subjects, age 1

Failure of the human heart to maintain sufficient output of blood for the demands of the body, heart failure, is a common condition with high mortality even with modern therapeutic alternatives. To identify molecular determinants of mortality in patients with new-onset heart failure, we performed a meta-analysis of genome-wide association studies and follow-up genotyping in independent populations

The current state of the water and sanitation sector has put water­related innovations high on the global policy agenda. However, the systemic complexity that typically surrounds such contexts call for actionable knowledge of how to enable and orchestrate innovative solutions by connecting different players via organized networks. In this study we explore and analyse the Water Innovation AcceleratThe current state of the water and sanitation sector has put water-related innovations high on the global policy agenda. However, the systemic complexity that typically surrounds such contexts call for actionable knowledge of how to enable and orchestrate innovative solutions by connecting different players via organized networks. In this study we explore and analyse the Water Innovation Accelerat

Conclusion: The data indicate important roles for phosphodiesterase (PDE) 3, 4, 5, and related cAMP and cGMP pools in the regulation of inner ear fluid homeostasis. Thus, dysfunction of these enzymes might contribute to pathologies of the inner ear. Objective: The mechanisms underlying endolymphatic hydrops, a hallmark of inner ear dysfunction, are not known in detail; however, altered balance in

Background and Objectives: Genome-wide association studies (GWAS) have identified several genetic regions involved in immune-regulatory mechanisms to be associated with celiac disease. Previous GWAS also revealed an over-representation of genes involved in type 2 diabetes and anorexia nervosa associated with celiac disease, suggesting involvement of common metabolic pathways for development of the

Today, commercially used brasses commonly contain 2 to 4 wt.% lead. As the availability of low-lead and lead-freebrass increase, there are environmental incentives for investigating the consequences of replacing thelead-containing brasses with lead-free equivalents. Generally, lead-free brass is expected to have a lowermachinability than its lead-alloyed counterpart, implying a higher manufacturin

Background and aims: Ca2+-induced exocytosis is essential for insulin to be secreted from beta-cells, and in islets from type-2 diabetic (T2D) donors the expression of several genes coding for exocytotic proteins is reduced. Largely this phenomenon cannot be explained by polymorphism; rather it is likely due to epigenetic factors like microRNAs (miRNAs). Indeed, previous studies have identified a

Aims/hypothesis: Variations in FTO are the strongest common genetic determinants of adiposity, and may partly act by influencing dopaminergic signalling in the brain leading to altered reward processing that promotes increased food intake. Therefore, we investigated the impact of such an interaction on body composition, and peripheral and brain insulin sensitivity. Methods: Participants from the T

INTRODUCTION: Information about the education, training and future employment prospects of Icelandic surgeons has not been available.MATERIALS AND METHODS: The study included all Icelandic surgeons, in all subspecialties, educated at the Faculty of Medicine at the University of Iceland. Information on specialty training, higher academic degrees and in which country these were obtained was collecte

There has been an increased interest in ways of measuring the value of new therapeutic options in oncology. An example of this in a European context is the ESMO Magnitude of Clinical Benefit Scale (ESMO-MCBS). The purpose of this study is to analyse how the value scales, exemplified with ESMO-MCBS, developed mainly to assist decisions by physicians, relate to other measures of clinical benefit and

Abstract: Objective: Acceptance and readiness to seek professional help have shown to be important factors for favourable audiological rehabilitation outcomes. Theories from health psychology such as the transtheoretical (stages-of-change) model could help understand behavioural change in people with hearing impairment. In recent studies, the University of Rhode Island change assessment (URICA) ha