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Genetic anticipation in Swedish Lynch syndrome families

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies wit

Pandemrix® vaccination is not associated with increased risk of islet autoimmunity or type 1 diabetes in the TEDDY study children

Aims/hypothesis: During the A/H1N1 2009 (A/California/04/2009) pandemic, mass vaccination with a squalene-containing vaccine, Pandemrix®, was performed in Sweden and Finland. The vaccination was found to cause narcolepsy in children and young adults with the HLA-DQ 6.2 haplotype. The aim of this study was to investigate if exposure to Pandemrix® similarly increased the risk of islet autoimmunity o

Tumor Necrosis Factor Receptor 1 and 2 Are Associated With Risk of Intracerebral Hemorrhage

BACKGROUND AND PURPOSE: Raised plasma concentrations of tumor necrosis factor receptors (TNFR) have been linked to arterial stiffness, cerebral microbleeds, and vascular events. The aim of this study was to investigate the association of circulating levels of TNFR1 and TNFR2 with risk for future intracerebral hemorrhage (ICH).METHODS: The population-based MDCS cohort (Malmö Diet and Cancer Study;

Clothing Insulation Required for Energy Efficiency (IREQee) and Thermal Comfort

Thermal comfort has direction implications for energy efficiency and sustainable development. From a global perspective, about 40% of total primary energy is used in buildings, contributing to more than 30% of CO2 emissions [1]. The fact that the common practices of clothing choices have impact on energy efficiency is ignored [2-3]. This paper analyzed and proposed clothing insulation required for

PreHospital Ambulance Stroke Test - pilot study of a novel stroke test

Background: There is a need for a prehospital stroke test that in addition to high sensitivity for stroke, also is able to communicate stroke severity similar to the National Institute of Health Stroke Scale (NIHSS). Methods: The PreHospital Ambulance Stroke Test (PreHAST), an eight item test based on NIHSS, which scores stroke severity from 0-19 points, was designed and adapted for the ambulance

Activated protein C-protein C inhibitor complex: a new biological marker for aortic aneurysms.

Objective: The concentration of the complex between activated protein C (APC) and protein C inhibitor (PCI) is a measure of thrombin generation. We studied whether it can provide information useful for the diagnosis and treatment of arterial vascular disease. Methods: Blood was obtained from 429 vascular patients admitted consecutively during September 2004 to March 2005. The APC-PCI complex was m

Fibrillatory rate response to candesartan in persistent atrial fibrillation.

Introduction Angiotensin-receptor blockers may exert favourable anti-arrhythmic effects in atrial fibrillation (AF), but their mechanisms are not fully understood. In this study, we tested the hypotheses that (i) candesartan reduces atrial fibrillatory rate and (ii) fibrillatory rate and its response to candesartan are related with the outcome of cardioversion. For this purpose, a post hoc subanal

Iliocaval vein stenting: Long term survey of postthrombotic symptoms and working capacity.

To evaluate the long term effect on lower extremity function and working capacity after stenting of iliocaval vein segments for acute deep venous thrombosis (DVT) or chronic venous occlusive disease. During a 14 year period from November 1994 to October 2008, 114 patients with median age 36 (interquartile range [IQR], 27-48) years, 72 (63%) women, 72 (63%) with hypercoagulable disorders, with acut

Gender aspects on heart failure incidence and mortality in a middle-aged, urban, community-based population sample: the Malmö preventive project.

There is little epidemiological data on heart failure (HF) in the younger age groups dominating clinical HF trials. We assessed gender-specific long-term HF incidence and mortality in an urban community-based sample of middle-aged subjects. Between 1974 and 1992, 33,342 HF-free subjects (10,900 [32.7%] women, mean age 45.7 +/- 7.4 years) were included in the Malmö Preventive Project, on average 21

Risk of pulmonary embolism in patients with autoimmune disorders: a nationwide follow-up study from Sweden.

BACKGROUND: Some autoimmune disorders have been linked to venous thromboembolism. We examined whether there is an association between autoimmune disorders and risk of pulmonary embolism. METHODS: We followed up all individuals in Sweden without previous hospital admission for venous thromboembolism and with a primary or secondary diagnosis of an autoimmune disorder between Jan 1, 1964, and Dec 31,

Evaluation of overheating risks and passive cooling measures in low energy Swedish dwellings

Overheating in buildings is becoming a major concern and cause for various health issues. Existing research and previous studies on the issue were examined to acquire relevant information about the definition of overheating, its possible causes, and the heath impacts it could have on human health. The review included data on the current status of thermal comfort and overheating regulations in Swed

Fibroblast growth factor 23, mineral metabolism and mortality among elderly men (Swedish MrOs)

Background: Fibroblast growth factor 23 (FGF23) is the earliest marker of disturbed mineral metabolism as renal function decreases. Its serum levels are associated with mortality in dialysis patients, persons with chronic kidney disease (CKD) and prevalent cardiovascular disease (CVD), and it is associated with atherosclerosis, endothelial dysfunction and left ventricular hypertrophy in the genera

Metabolic syndrome across Europe: Different clusters of risk factors

Background: Metabolic syndrome (MetS) remains a controversial entity. Specific clusters of MetS components - rather than MetS per se - are associated with accelerated arterial ageing and with cardiovascular (CV) events. To investigate whether the distribution of clusters of MetS components differed cross-culturally, we studied 34,821 subjects from 12 cohorts from 10 European countries and one coho

Cerebrospinal fluid neurofilament light chain protein levels in subtypes of frontotemporal dementia

Background: Frontotemporal dementia (FTD) is recognised as a clinically and morphologically heterogeneous group of interrelated neurodegenerative conditions. One of the subtypes within this disease spectrum is the behavioural variant FTD (bvFTD). This is known to be a varied disorder with a mixture of tau-positive and tau-negative underlying pathologies. The other subtypes include semantic dementi

GAD Autoantibody Affinity in Adult Patients With Latent Autoimmune Diabetes, the Study Participants of a GAD65 Vaccination Trial

OBJECTIVE Patients with latent autoimmune diabetes in adults (LADA) express autoantibodies against the 65-kDa isoform of GAD (GADA). Intervention with recombinant human GAD65 formulated with aluminium hydroxide (GAD-alum) given twice subcutaneously to LADA patients at intervals of 4 weeks was safe and did not compromise beta-cell function in a Phase II clinical trial. GADA affinity has been shown

Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer

Context Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2-related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear. Objective To characterize the survival of BRCA carriers with EOC compared with noncarriers and to determine whether BRCA1 and BRC

BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians

Objective To investigate the possible association of the BANK1 gene with genetic susceptibility to systemic sclerosis (SSc) and its subphenotypes. Methods A large multicentre case-control association study including 2380 patients with SSc and 3270 healthy controls from six independent case-control sets of Caucasian ancestry ( American, Spanish, Dutch, German, Swedish and Italian) was conducted. Th

Early increase in serum-COMP is associated with joint damage progression over the first five years in patients with rheumatoid arthritis

Background: Currently available biomarkers for the early tissue process leading to joint damage in rheumatoid arthritis are insufficient and lack prognostic accuracy, possibly a result of variable activity of the disease over time. This study represents a novel approach to detect an altered activity of the disease process detected as increasing serum-COMP levels over a short time and whether this

Benefit of Treating Hepatocellular Carcinoma Recurrence after Liver Transplantation and Analysis of Prognostic Factors for Survival in a Large Euro-American Series

To identify prognostic factors after hepatocellular carcinoma (HCC) recurrence after liver transplantation (LT). We retrospectively reviewed the combined experience at Toronto General Hospital and Hospital Vall d'Hebron managing HCC recurrence after LT (n = 121) between 2000 and 2012. We analyzed prognostic factors by uni- and multi-variate analysis. Median follow-up from LT was 29.5 (range 2-129.

Helicobacter pylori and CagA seropositivity and its association with gastric and oesophageal carcinoma.

Objective. Helicobacter pylori infection is an established risk factor for non-cardia gastric adenocarcinoma. Infection with H. pylori strains harbouring the cagA pathology island may augment this association. H. pylori infection may at the same time reduce the risk for oesophageal carcinoma. However, prospective data on the association between CagA seropositivity and gastric or oesophageal carcin