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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We te

Incidence, Predictors, and Success of Ventricular Tachycardia Catheter Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy (from the Nordic ARVC Registry)

Catheter ablation may reduce ventricular tachycardia (VT) burden in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. However, little is known about factors predicting need for ablation. Therefore, we sought to investigate predictors and use of VT ablation and to evaluate the postprocedural outcome in ARVC patients. We studied 435 patients from the Nordic ARVC registry including 220

Determinants of generalized fatigue in individuals with symptomatic knee osteoarthritis : The MOST Study

Aim: The aim of the study was to identify sociodemographic, disease-related, physical and mental health-related determinants of fatigue at 2-year follow-up in individuals with symptomatic knee osteoarthritis (OA). Methods: A longitudinal analysis of participants with symptomatic knee OA from the Multicenter Osteoarthritis Study (MOST) was conducted to identify predictors of fatigue at 2-year follo

Occupational exposures and risk of gastric cancer in a population-based case-control study

Gastric cancer trends seem to follow improvements in the environment of blue-collar workers, but the etiological role of occupational exposures in gastric carcinogenesis is scantily investigated. The risk of gastric adenocarcinoma in 10 common occupational industries, and particularly the long-term effects of asbestos, organic solvents, impregnating agents, insecticides, and herbicides, were evalu

Monitoring of cerebral oximetry in patients with postural orthostatic tachycardia syndrome

AIMS : Postural orthostatic tachycardia syndrome (POTS) is a disorder of unknown aetiology characterized by orthostatic intolerance and tachycardia with diverse other symptoms, including neurocognitive deficits. Cerebral oximetry non-invasively measures cerebral tissue saturation (SctO2) and has been shown to be informative in syncope evaluation. We aimed to assess SctO2 in POTS patients and those

Unmanipulated haploidentical stem cell transplantation in adults with acute lymphoblastic leukemia : a study on behalf of the Acute Leukemia Working Party of the EBMT

Background: Allogenic hematopoietic stem cell transplantation (allo-SCT) is the most effective post-remission treatment for adults with high-risk acute lymphoblastic leukemia (ALL). The aim of the study was to analyze results of unmanipulated haploidentical allo-SCT (haplo-SCT) for adults with ALL and to identify prognostic factors. Methods: We performed a retrospective analysis on 208 adults tran

Proteomic analysis reveals sex-specific biomarker signature in postural orthostatic tachycardia syndrome

BACKGROUND: Postural orthostatic tachycardia syndrome (POTS) is a variant of cardiovascular (CV) autonomic disorder of unknown etiology characterized by an excessive heart rate increase on standing and orthostatic intolerance. In this study we sought to identify novel CV biomarkers potentially implicated in POTS pathophysiology.METHODS: We conducted a nested case-control study within the Syncope S

Cancer Risk for Fingolimod, Natalizumab, and Rituximab in Multiple Sclerosis Patients

Objective: Novel, highly effective disease-modifying therapies have revolutionized multiple sclerosis (MS) care. However, evidence from large comparative studies on important safety outcomes, such as cancer, is still lacking. Methods: In this nationwide register-based cohort study, we linked data from the Swedish MS register to the Swedish Cancer Register and other national health care and census

Life-history traits buffer against heat wave effects on predator-prey dynamics in zooplankton

In addition to an increase in mean temperature, extreme climatic events, such as heat waves, are predicted to increase in frequency and intensity with climate change, which are likely to affect organism interactions, seasonal succession, and resting stage recruitment patterns in terrestrial as well as in aquatic ecosystems. For example, freshwater zooplankton with different life-history strategies

Patient satisfaction with prehospital emergency care following a hip fracture : A prospective questionnaire-based study

Background: Older patients with a hip fracture require specialized emergency care and their first healthcare encounter before arriving at the hospital is often with the ambulance service. Since 2005 there has been a registered nurse on the crew of every ambulance in Sweden in order to provide prehospital emergency care and to prepare the patients for hospitalization. It is important to investigate

Evacuation planning optimization based on a multi-objective artificial bee colony algorithm

Evacuation is an important activity for reducing the number of casualties and amount of damage in disaster management. Evacuation planning is tackled as a spatial optimization problem. The decision-making process for evacuation involves high uncertainty, conflicting objectives, and spatial constraints. This study presents a Multi-Objective Artificial Bee Colony (MOABC) algorithm, modified to prov

Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin

Progranulin is a secreted protein with important functions in processes including immune and inflammatory response, metabolism and embryonic development. The present study aimed at identification of genetic factors determining progranulin concentrations. We conducted a genome-wide association meta-analysis for serum progranulin in three independent cohorts from Europe: Sorbs (N=848) and KORA (N=16

Primary producers or consumers? Increasing phytoplankton bacterivory along a gradient of lake warming and browning

Eukaryotic phytoplankton form the basis of aquatic food webs and play a key role in the global carbon cycle. Many of these evolutionarily diverse microalgae are also capable of feeding on other microbes, and hence simultaneously act both as primary producers and consumers. The net ecosystem impact of such mixotrophs depends on their nutritional strategy which is likely to alter with environmental

Treatment of humerus fractures in the elderly : A systematic review covering effectiveness, safety, economic aspects and evolution of practice

Objectives The objective of this Health Technology Assessment was to evaluate effectiveness, complications and cost-effectiveness of surgical or non-surgical treatment for proximal, diaphyseal or distal fractures of the humerus in elderly patients. Secondary objectives were to evaluate the intervention costs per treatment of proximal humerus fractures (PHF) and to investigate treatment traditions

Elevated circulating effector memory T cells but similar levels of regulatory T cells in patients with type 2 diabetes mellitus and cardiovascular disease

Type 2 diabetes mellitus is associated with an elevated risk of cardiovascular disease, but the mechanism through which diabetes contributes to cardiovascular disease development remains incompletely understood. In this study, we compared the association of circulating regulatory T cells, naïve T cells, effector memory T cells or central memory T cells with cardiovascular disease in patients with

PRDM10 -rearranged Soft Tissue Tumor : A Clinicopathologic Study of 9 Cases

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

Increased plasma neurofilament light chain concentration correlates with severity of post-mortem neurofibrillary tangle pathology and neurodegeneration

Alzheimer's disease (AD) is pathologically characterized by the accumulation of amyloid-β (Aβ) plaques, neurofibrillary tangles and widespread neuronal loss in the brain. In recent years, blood biomarkers have emerged as a realistic prospect to highlight accumulating pathology for secondary prevention trials. Neurofilament light chain (NfL), a marker of axonal degeneration, is robustly elevated in

Pharmacokinetic modelling and validation of the half-life extension needed to reduce the burden of infusions compared with standard factor VIII

Introduction: Currently, no universally accepted definition of extended half-life (EHL) recombinant FVIII (rFVIII) exists. Identifying the minimum half-life extension ratio required for a reduction in dosing frequency compared with standard rFVIII could enable a more practical approach to decisions around prophylaxis with EHL rFVIII. Aim: To identify the half-life extension ratio required to decre

Decline of HPV infections in Scandinavian cervical screening populations after introduction of HPV vaccination programs

Objective: To monitor the changes in prevalence of human papillomavirus (HPV) infections in women <50 years of age, participating in cervical screening programs of Denmark, Norway, and Sweden, before and after introduction of quadrivalent HPV (qHPV) vaccination. Methods: Liquid-based cytology samples were collected from 6538 women who attended cervical screening in Denmark, Norway, and Sweden in 2