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A Genome-wide Study of Common and Rare Genetic Variants Associated with Circulating Thrombin Activatable Fibrinolysis Inhibitor

Thrombin-activatable fibrinolysis inhibitor (TAFI) plays a central role in haemostasis, and plasma TAFI concentrations are heritable. Candidate gene studies have identified several variants within the gene encoding TAFI, CPB2, that explain part of the estimated heritability. Here, we describe an exploratory genome-wide association study to identify novel variants within and outside of the CPB2 loc

THOC5 : A novel gene involved in HDL-cholesterol metabolism

Although numerous genes are known to regulate serum lipid traits, identified variants explain only a small proportion of the expected heritability. We intended to identify further genetic variants associated with lipid phenotypes in a self-contained population of Sorbs in Germany. We performed a genome-wide association study (GWAS) on LDL-cholesterol, HDL-cholesterol (HDL-C), and triglyceride (TG)

Immunogenetics of Parkinson's disease: Translational studies from rodents to humans

Parkinson's disease (PD) is a complex neurodegenerative disease, characterized by a progressive lossof dopaminergic neurons (DN) in the substantia nigra (SN) that innervate the striatum (ST) and pathologicalaccumulation of alpha-synuclein (αsyn) protein in aggregates called Lewy bodies (LB) and Lewy neurites(LN). As a complex disease, PD presents a genetically heterogeneous origin. Mutations in si

Risk of invasive breast cancer in relatives of patients with breast carcinoma in situ : a prospective cohort study

Background: Wide implementation of mammography screening has resulted in increased numbers of women diagnosed with breast carcinoma in situ. We aimed to determine the risk of invasive breast cancer in relatives of patients with breast carcinoma in situ in comparison to the risk in relatives of patients with invasive breast cancer. Methods: We analyzed the occurrence of cancer in a nationwide cohor

Human TRPA1 is an inherently mechanosensitive bilayer-gated ion channel

The role of mammalian Transient Receptor Potential Ankyrin 1 (TRPA1) as a mechanosensor is controversial. Here, we report that purified human TRPA1 (hTRPA1) with and without its N-terminal ankyrin repeat domain responded with pressure-dependent single-channel current activity when reconstituted into artificial lipid bilayers. The hTRPA1 activity was abolished by the thiol reducing agent TCEP. Thus

Registered nurseś views on telephone nursing for patients with respiratory tract infections in primary healthcare - A qualitative interview study

Background: Telephone nursing in primary healthcare has been suggested as a solution to the increased demand for easy access to healthcare, increased number of patients with complex problems, and lack of general practitioners. Registered nurses' assessments may also be of great importance for antibiotic prescriptions according to guidelines. The aim of this study was to describe registered nurses'

Survival of Patients With Angina Pectoris Undergoing Percutaneous Coronary Intervention With Intracoronary Pressure Wire Guidance

Background: Intracoronary pressure wire measurement of fractional flow reserve (FFR) provides decision-making guidance during percutaneous coronary intervention (PCI). However, limited data exist on the effect of FFR on long-term clinical outcomes in patients with stable angina pectoris. Objectives: The purpose of this study was to determine the association between the usage of FFR and all-cause m

Accuracy of NIH Stroke Scale for diagnosing aphasia

Objectives: The National Institutes of Health Stroke Scale (NIHSS) has not been validated to diagnose aphasia in the stroke population. We therefore examined the diagnostic accuracy of NIHSS for detecting aphasia in acute ischemic stroke. Methods: Consecutive patients with acute first-ever ischemic stroke were included prospectively in Lund Stroke Register Study at Skåne University Hospital, Swede

Moderate-to-vigorous group aerobic exercise versus group leisure activities for mild-to-moderate depression in adolescents : study protocol for a multicentre randomised controlled trial

INTRODUCTION: Depression is common, increasing among adolescents and carries risk of disability, lower educational achievements, cardiovascular disease, substance abuse, self-harm and suicide. The effects of evidence-based treatments with medication or psychotherapy are modest. Aerobic exercise is a promising intervention for adolescents with depression, but available studies are hampered by metho

Cardiovascular Proteomics : A Post Hoc Analysis from a Phase II Randomized Clinical Trial Comparing GnRH Antagonist vs GnRH Agonist among Men with Advanced Prostate Cancer

PURPOSE: Recent studies demonstrated reduced cardiovascular (CV) risk with gonadotropin-releasing hormone (GnRH) antagonist, yet the underlying mechanism remains undetermined. The objective of this study was to examine longitudinal changes over time in established CV related proteins among men treated with GnRH agonists vs GnRH antagonist. MATERIALS AND METHODS: We performed a proteomics analysis