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Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rer

Calcium Current Inactivation Rather than Pool Depletion Explains Reduced Exocytotic Rate with Prolonged Stimulation in Insulin-Secreting INS-1 832/13 Cells.

Impairment in beta-cell exocytosis is associated with reduced insulin secretion and diabetes. Here we aimed to investigate the dynamics of Ca2+-dependent insulin exocytosis with respect to pool depletion and Ca2+-current inactivation. We studied exocytosis, measured as increase in membrane capacitance (ΔCm), as a function of calcium entry (Q) in insulin secreting INS-1 832/13 cells using patch cla

Common variants associated with plasma triglycerides and risk for coronary artery disease

Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglyceri

Impact of thearubigins on the estimation of total dietary flavonoids in the European Prospective Investigation into Cancer and Nutrition (EPIC) study

Thearubigins (TR) are polymeric flavanol-derived compounds formed during the fermentation of tea leaves. Comprising similar to 70% of total polyphenols in black tea, TR may contribute majorly to its beneficial effects on health. To date, there is no appropriate food composition data on TR, although several studies have used data from the US Department of Agriculture (USDA) database to estimate TR

Diabetes in Friedreich Ataxia

Diabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease. Increased body adiposity and insulin resistance are frequently present in Friedreich ataxia, but pancreatic cell dysfunction and death are a conditio sine qua n

The Use of Central Nervous System Active Drugs During Pregnancy.

CNS-active drugs are used relatively often during pregnancy. Use during early pregnancy may increase the risk of a congenital malformation; use during the later part of pregnancy may be associated with preterm birth, intrauterine growth disturbances and neonatal morbidity. There is also a possibility that drug exposure can affect brain development with long-term neuropsychological harm as a result

Projektet utifrån institutionspersonalens perspektiv

Syftet med denna studie är att utifrån mitt empiriska material kartlägga och beskriva hur de anställda på de särskilda ungdomshemmen tolkar, definierar, och upplever ett behandlingsprojekt, som involverade olika myndigheter, benämnt Motverka Våld och Gäng. Dessutom uppmärksammas hur de anställda samordnarna uppfattades och kategoriserades. I institutionspersonalens framställning är samordnarens

Early lumbar puncture in adult bacterial meningitis-rationale for revised guidelines

Current international guidelines recommend cerebral computerized tomography (CT) before lumbar puncture (LP) in many adults with suspected acute bacterial meningitis (ABM), due to concern about LP-induced cerebral herniation. Despite guideline emphasis on early treatment based on symptoms, performing CT prior to LP implies a risk of delayed ABM treatment, which may be associated with a fatal outco

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combined P < 5 x 10(-8). These include a second independent signal at the KCNQ1 locus; the first report, to

Supplemental instruction for improving first year results in engineering studies

Many studies have been made on the impact of supplemental instruction in supported courses, most show significantly better examination results for students attending supplemental instruction in comparison to those who do not. However, remarkably little attention has been devoted to following up whether the benefits of supplemental instruction reach beyond the course it supports. The present study

Doubly reactive INS-IGF2 autoantibodies in children with newly diagnosed autoimmune (type 1) diabetes.

The splice variant INS-IGF2 entails the preproinsulin signal peptide, the insulin B-chain, eight amino acids of the C-peptide and 138 unique amino acids from an ORF in the IGF2 gene. The aim was to determine whether levels of specific INS-IGF2 autoantibodies (INS-IGF2A) were related to age at diagnosis, islet autoantibodies, HLA-DQ, or both, in newly diagnosed type 1 diabetes patients and controls

Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide

To identify novel genes influencing blood pressure response to thiazide diuretic therapy for hypertension, we conducted genome-wide association meta-analyses of approximate to 1.1 million single-nucleotide polymorphisms in a combined sample of 424 European Americans with primary hypertension treated with hydrochlorothiazide from the Pharmacogenomic Evaluation of Antihypertensive Responses study (n

Detecting the vulnerable plaque in patients.

Atherosclerosis is a systemic condition that eventually evolves into vulnerable plaques and cardiovascular events. Pathology studies reveal that rupture-prone atherosclerotic plaques have a distinct morphology, namely a thin, inflamed fibrous cap covering a large lipidic and necrotic core. With the fast development of imaging techniques in the last decades, detecting vulnerable plaques thereby ide

Evolution and stability of the G-matrix during the colonization of a novel environment.

Populations that undergo a process of rapid evolution present excellent opportunities to investigate the mechanisms driving or restraining adaptive divergence. The genetic variance-covariance matrix (G) is often considered to constrain adaptation but little is known about its potential to evolve during phenotypic divergence. We compared the G-matrices of ancestral and recently established ecotype

Diabetes Mellitus and Elevated Copeptin Levels in Middle Age Predict Low Cognitive Speed after Long-Term Follow-Up.

Background/Aims: We examined the potential impact of vascular risk factors including copeptin - a robust surrogate marker of arginine vasopressin associated with the metabolic syndrome and diabetes risk - on future cognitive abilities in a population-based cohort. Methods: Participants (n = 933) were investigated using baseline data, including copeptin levels, and data collected 16 years later usi