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Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

BACKGROUND. Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function. METHODS. A GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen

Syndromes of orthostatic intolerance and syncope in young adults

Objective To explore the clinical and neuroendocrine characteristics of syndromes of orthostatic intolerance and syncope in young adults. Methods Two hundred and thirty-six patients aged 18-40 years with orthostatic intolerance and/or syncope were examined by head-up tilt test (HUT). Plasma levels of epinephrine, norepinephrine, renin, C-terminal-pro-arginine-vasopressin (CT-proAVP), C-terminal-en

Staging Science : Some aspects of the production and distribution of science knowledge

Popular AbstractAvhandlingen presenterar, från ett fenomenologiskt perspektiv, interaktionen mellan naturvetenskapens kunskap och annan kunskap, här kallad "vardagskunskap". Utgångspunkten i presentationen är människans existens. Två aspekter av denna lyfts fram som centrala - att människan är kroppsligt utsatt för, berörd av, något hon inte har full kontroll över, samt att hon alltid agerar utifrThe dissertation presents a phenomenological view on the interaction between science knowledge and prescientific knowledge. Drawing on Husserl, Merleau-Ponty and Lévinas the human bodily grounded existence is described, the central feature of this existence being its responsivity to the Other. This responsivity is presented as the starting point for the production of science knowledge, thus making

Ectomycorrhizal community structure and function in relation to forest residue harvesting and wood ash applications

Ectomycorrhizal fungi form symbiotic associations with tree roots and assist in nutrient-uptake and -cycling in forest ecosystems, thereby constituting a most significant part of the microbial community. The aims of the studies described in this thesis were to evaluate the potential of DNA-based molecular methods in below-ground ectomycorrhizal community studies and to investigate changes in ectom

Both Low and High Serum IGF-I Levels Associate with Cancer Mortality in Older Men.

Background: Although recent population-based studies suggest a U-shaped relationship between serum IGF-I concentration and all-cause mortality, the distribution of death causes underlying this association remains unclear. We hypothesized that high IGF-I levels associate with increased cancer mortality, whereas low IGF-I levels associate with increased cardiovascular disease (CVD) mortality. Metho

Impact of aspirin, NSAIDs, warfarin, corticosteroids and SSRIs on the site and outcome of non-variceal upper and lower gastrointestinal bleeding.

Abstract Objective. To assess the impact of increased use of low-dose aspirin, other non-steroidal anti-inflammatory drugs (NSAIDs), warfarin, corticosteroids and selective serotonin re-uptake inhibitors (SSRIs) on the site and outcome of non-variceal gastrointestinal (GI) bleeds. Methods. Retrospective review of 731 patients with peptic ulcer bleeds (PUBs), non-ulcer, non-variceal upper (NUUPGIBs

Deoxyribonucleic Acid Methylation and Gene Expression of PPARGC1A in Human Muscle Is Influenced by High-Fat Overfeeding in a Birth-Weight-Dependent Manner.

Context: Low birth weight (LBW) and unhealthy diets are risk factors of metabolic disease including type 2 diabetes (T2D). Genetic, nongenetic, and epigenetic data propose a role of the key metabolic regulator peroxisome proliferator-activated receptor gamma, coactivator 1alpha (PPARGC1A) in the development of T2D. Objective: Our objective was to investigate gene expression and DNA methylation of

Nonendocrine Cancers Associated with Benign and Malignant Parathyroid Tumors.

Context: There are limited reliable epidemiological data concerning whether individuals with benign/malignant parathyroid tumor are at an elevated risk of developing nonendocrine malignancies or vice versa. Objective: The objective of the study was to quantify these risks, especially risk of parathyroid tumors after other cancers. Design: This was a population-based retrospective cohort study. Par

Prevalence of zinc transporter 8 antibodies in gestational diabetes mellitus.

Aims: Gestational diabetes mellitus affects approximately 7% of all pregnant women. Some of these women develop autoantibodies that are generally characteristic of Type 1 diabetes. Autoantibodies targeting glutamic acid decarboxylase and tyrosine phosphatase-like protein are the most frequently reported. A recently identified autoantigen in Type 1 diabetes is zinc transporter 8. Some reports sugg

Reduced Energy Expenditure and Impaired Feeding-Related Signals But Not High Energy Intake Reinforces Hypothalamic Obesity in Adults with Childhood Onset Craniopharyngioma.

Context: Obesity is a frequent manifestation of hypothalamic damage from a craniopharyngioma (CP). It is not yet clarified whether the obesity is due to alterations in energy expenditure, i.e. basal metabolic rate (BMR) and physical activity, or to increased energy intake (EI). Objective: The aim was to investigate whether energy expenditure and EI differed between childhood onset CP patients and

Genetic variation in glutathione-related genes and body burden of methylmercury.

BACKGROUND: Exposure to toxic methylmercury (MeHg) through fish consumption is a large problem worldwide, and it has led to governmental recommendations of reduced fish consumption and blacklisting of mercury-contaminated fish. The elimination kinetics of MeHg varies greatly among individuals. Knowledge about the reasons for such variation is of importance for improving the risk assessment for MeH

Sex-specific interactions between the IRS1 polymorphism and intakes of carbohydrates and fat on incident type 2 diabetes.

BACKGROUND: The minor T allele of rs2943641 near the gene encoding for insulin receptor substrate 1 (IRS1) has been associated with decreased risk of type 2 diabetes (T2D) and adiposity in genome-wide association studies. Dietary intake can influence the regulation of IRS1, and studies have indicated sex-specific associations between IRS1 and adiposity. OBJECTIVE: The objective was to examine the