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The genetic causes of familial breast cancer are still unclear, where only less than 20% have evident germline mutations. Most studies focus on mutations that cause a direct impact in the protein, disregarding the synonymous variants, where the codon is changed but the amino acid encoded remains the same. Synonymous variants can affect mRNA stability and translation, by differences in codon usage

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Objectives: To investigate gender differences in daily smoking prevalence in different age groups in southern Sweden. Methods: The 2004 public-health survey in Skåne is a cross-sectional study. A total of 27,757 persons aged 18-80 years answered a postal questionnaire, which represents 59% of the random sample. A logistic regression model was used to investigate the associations between gender and

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Venous thromboembolism (VTE) clusters in families, but the familial risk of VTE has only been determined in first-degree relatives. This nationwide study aimed to determine the familial risk of VTE in first-, second- and third-degree relatives of affected individuals. The Swedish Multi-Generation Register was linked to Hospital Discharge Register data for the period 1987-2009. This was a case-coho

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Objective. To analyse the management of muscle-invasive bladder cancer in a population-based national register, and specifically to investigate the role of curative therapy (i.e. cystectomy or radiotherapy) in relation to patient, tumour and hospital characteristics. Material and methods. The Swedish Bladder Cancer Register covers more than 90% of all patients in the country who have been diagnose

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Background and Purpose-Although many stroke patients are young or middle-aged, risk factor profiles in these age groups are poorly understood. Methods-The Stroke in Young Fabry Patients (sifap1) study prospectively recruited a large multinational European cohort of patients with cerebrovascular events aged 18 to 55 years to establish their prevalence of Fabry disease. In a secondary analysis of pa

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BackgroundNew evidence indicates that increased dietary protein ingestion promotes health and recovery from illness, and also maintains functionality in older adults. The present study aimed to investigate whether a novel food service concept with protein-supplementation would increase protein and energy intake in hospitalised patients at nutritional risk. MethodsA single-blinded randomised contro

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Much is known about the geoepidemiology of defined autoimmune diseases (AD); however, there is currently limited data regarding the prevalence of autoantibodies among healthy populations of different geographical areas. The aim of this study was to evaluate a large profile of autoantibodies in healthy adults from distinct global regions as well as the prevalence of anti-infectious agents antibodie

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Cathepsin E (CTSE), an aspartic proteinase, is differentially expressed in the metaplasia-dysplasia-neoplasia sequence of gastric and colon cancer. We evaluated CTSE in Barrett's esophagus (BE) and cancer because increased CTSE levels are linked to improved survival in several cancers, and other cathepsins are up-regulated in BE and esophageal adenocarcinoma (EAC). A total of 273 pretreatment tiss

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Objectives High-risk human papillomavirus (hrHPV) is the primary cause of cervical cancer. As Chlamydia trachomatis is also linked to cervical cancer, its role as a potential co-factor in the development of cervical intraepithelial neoplasia (CIN) grade 2 or higher was examined. Methods The placebo arms of two large, multinational, clinical trials of an HPV6/11/16/18 vaccine were combined. A total

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BACKGROUND: Insulin resistance was found in some but not in all previous studies of non-diabetic first degree relatives of Type 2 diabetic patients. Small study groups, ethnic differences and/or non-optimal techniques may explain the conflicting results. AIM: To study the impact of a family history of Type 2 diabetes on insulin action in a large group of non-diabetic Europeans using the 'gold stan

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Connecting science to political agenda-setting is essential for a sustainable transition and acceptable politics. This task is complicated by phenomena like post-truth, for which facts are a non-issue. However, post-truth is not the only issue. The practice of political spin, in which the significance of facts is reconstructed according to specific interests poses another threat to scientific cred

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Due to the world’s growing population and an increase in food demand, new innovative food products need to be developed to maximize the use of limited farmland. Because of global warming and the fact that plant based products generate less greenhouse gases than meat based products, research should focus on new plant-based protein sources. Rapeseed press cake is a residue from rapeseed oil producti

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Populärvetenskaplig sammanfattning: Utvärdering av borrhålsloggar. Syftet med detta examensarbete var att göra en utvärdering av wireline borrhålsloggar från borrhålet Kyrkheddinge-4, 3 km öster om Staffanstorp i Skåne. Den undersökta delen av borrhålet Kyrkheddinge-4 befinner sig inom den potentiella reservoarsandstenen, Lundasandstenen. Wireline borrhålsloggar är geofysiska verktyg som används This study is an evaluation of formation characteristics, as derived from wire-line well logs, of the Lund Member in the borehole Kyrkheddinge-4, 3 km east of Staffanstorp, Skåne, Sweden, through the comparison to measured core data. The purpose is to assess the feasibility of using some of the porosity and permeability equations and cross-plots derived for the investigated section and applying th

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Gene fusion transcripts containing PRDM10 were recently identified in low-grade undifferentiated pleomorphic sarcomas (UPS). Here, we describe the morphologic and clinical features of 9 such tumors from 5 men and 4 women (age: 20 to 61 y). Three cases had previously been diagnosed as UPS, 3 as superficial CD34-positive fibroblastic tumor (SCD34FT), 2 as pleomorphic liposarcoma, and 1 as pleomorphi

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Background: The proportion of adults with liver disease due to severe alpha-1-antitrypsin deficiency (AATD), with PiZZ phenotype, is not clear. The markers of the AATD liver disease, how it progresses, and measures for its prevention have not been established. The aim of this study was to analyze the risk of liver disease in individuals with severe AAT deficiency (PiZZ). Methods: Longitudinal clin

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Background: Successful cardiac resynchronization therapy (CRT) requires appropriate left ventricular (LV) lead placement on a suitable segment of the free LV wall. Current guidelines suggest targeted lead placement, but the individual anatomy of the cardiac veins is often a limiting factor. Purpose: To map cardiac veins with multidetector computed tomography (MDCT) and plot the veins in cardiac se

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BACKGROUND: Arsenic methylation efficiency, a susceptibility factor for arsenic toxicity, is in adults partly explained by variation in arsenite methyltransferase (AS3MT) gene. Little is known about the role of AS3MT for children's arsenic methylation.OBJECTIVES: Evaluating associations between AS3MT polymorphisms and children's arsenic methylation efficiency.METHODS: Bangladeshi children's arseni