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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

Whole-genome sequencing based on formalin-fixed paraffin-embedded endomyocardial biopsies for genetic studies on outcomes after heart transplantation

Background Whole-genome sequencing (WGS) of heart transplant recipient- and donor-derived cardiac biopsies may facilitate organ matching, graft failure prediction, and immunotolerance research. The objective of this study was to determine the feasibility of WGS based on formalin-fixed paraffin-embedded endomyocardial biopsies. Methods and results The study included serial donor- and recipient samp

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

Low-molecular-weight heparin adherence and effects on survival within a randomised phase III lung cancer trial (RASTEN)

Background: Coagulation activation is a hallmark of cancer, and anticoagulants have shown tumour-inhibiting properties. However, recent trials have failed to demonstrate improved survival with low-molecular-weight heparin (LMWH) in cancer populations. This has raised the question of suboptimal adherence as a possible explanation for the lack of benefit. Still, there is no standardised method to di

Predicted Heat Strain (PHS) model and the sweat loss in an extremely hot climate

Introduction: The aim was to study if the evaporative water loss can be predicted enough accurately for hydration recommendations by ISO 7933 – Predicted Heat Strain (PHS) model during a student laboratory exercise in an extremely hot environment.Method: Twelve young healthy students (8 males and 4 females), unacclimatized to heat, were exposed in a climatic chamber at 50˚C, 30% relative humidity

Sorbitol and myo-inositol levels and morphology of sural nerve in relation to peripheral nerve function and clinical neuropathy in men with diabetic, impaired, and normal glucose tolerance

Aims: Sorbitol and myo-inositol levels and morphology of sural nerve were compared with nerve function and clinical neuropathy in men with diabetic, impaired (IGT), and normal glucose tolerance. Methods: After neurography of sural nerve and determinations of sensory thresholds for vibration, warm and cold on the foot, whole nerve sural nerve biopsy was performed in 10 men with Type 1 diabetes mell

Vanilloid receptors on capsaicin-sensitive sensory nerves mediate relaxation to methanandamide in the rat isolated mesenteric arterial bed and small mesenteric arteries

1. In the present study, the vasodilator actions of methanandamide and capsaicin in the rat isolated mesenteric arterial bed and small mesenteric arterial segments were investigated. 2. Methanandamide elicited concentration-dependent relaxations of preconstricted mesenteric arterial beds (pEC 50 = 6.0 ± 0.1, E(max) = 87 ± 3%) and arterial segments (pEC 50 = 6.4 ± 0.1, E(max) = 93 ± 3%). 3. In art

In vivo evidence of differential frontal cortex metabolic abnormalities in progressive and relapsing-remitting multiple sclerosis

The pathophysiology of progressive multiple sclerosis remains elusive, significantly limiting available disease-modifying therapies. Proton MRS (1 H-MRS) enables in vivo measurement of small molecules implicated in multiple sclerosis, but its application to key metabolites glutamate, γ-aminobutyric acid (GABA), and glutathione has been sparse. We employed, at 7 T, a previously validated 1 H-MRS pr

Health care workers' self-perceived infection risk and COVID-19 vaccine uptake : A mixed methods study

Vaccination is the most cost-effective way of preventing Coronavirus Disease 2019 (COVID-19) although there was a considerable delay in its institution in Tanzania. This study assessed health care workers' (HCWs) self-perceived infection risk and uptake of COVID-19 vaccines. A concurrent embedded, mixed methods design was utilized to collect data among HCWs in seven Tanzanian regions. Quantitative

Side-chain engineering by thymine groups enables hydrogen bond in P-type donor-acceptor polymers with enhanced optoelectronic properties

Realizing ordered structures at the molecular level is a key approach to increase the charge mobility of organic semiconductors. However, the typical solution-based methods employed for the processing make the achievement of well-organized organic nanostructures difficult with the favored formation of disordered assemblies. To realize well-ordered thin films, one needs to design conjugated materia

Silicon isotope constraints on terrestrial planet accretion

Understanding the nature and origin of the precursor material to terrestrial planets is key to deciphering the mechanisms and timescales of planet formation1. Nucleosynthetic variability among rocky Solar System bodies can trace the composition of planetary building blocks2–5. Here we report the nucleosynthetic composition of silicon (μ30Si), the most abundant refractory planet-building element, i

Steel decarbonization in China–a top-down optimization model for exploring the first steps

The steel industry is a major contributor to emissions of CO2 and key air pollutants. Reducing air pollution has since long been a policy priority in China. Reducing CO2 emissions has more recently also become a key priority partially manifested through the signing of the Paris Agreement in 2015. Although there are often synergies between reducing CO2 emissions and air pollution, it may have impli

Association of anxiety or depression with risk of recurrent cardiovascular events and death after myocardial infarction : A nationwide registry study

Background: Depression and anxiety are risk factors for patients with myocardial infarction (MI). However, the association of a previous psychiatric diagnosis of anxiety or depression, or only such self-reported symptoms, with cardiovascular outcomes and mortality post-MI has not been previously examined in the same nationwide cohort. Methods: We linked demographic, socioeconomic and clinical data

Family cohesion predicts long-term health and well-being after losing a parent to cancer as a teenager : :A nationwide population-based study

Background:Parentally bereaved children are at increased risk of negative consequences, and the mediating factors most consistently identified are found to be related to family function after the loss, including cohesion. However, existing evidence is limited, especially with respect to children and youths’ own perception of family cohesion and its long-term effects on health and well-being. There

Heparin-binding protein as a marker of ventriculostomy related infection and central nervous system inflammation in neuro-intensive care

Objective: Diagnosis of ventriculostomy related infections (VRI) in the neuro-intensive care unit remains challenging and current biomarkers lack adequate precision. The aim of this study was to explore the potential of Heparin-binding protein (HBP) in cerebrospinal fluid (CSF) as a diagnostic biomarker of VRI. Methods: All patients treated with an external ventricular drain (EVD) between January

Ticagrelor Treatment is Associated With Increased Coronary Flow Reserve in Survivors of Myocardial Infarction

Background: The pleiotropic action of ticagrelor, with effects in addition to platelet inhibition, has been shown to improve endothelial function in patients with coronary artery disease. These positive effects are possibly adenosine mediated. This study investigated the association of ticagrelor therapy and coronary artery flow reserve in survivors of myocardial infarction (MI). Methods: This was

Delivery of acute ischaemic stroke treatments in the European region in 2019 and 2020

Introduction: We assessed best available data on access and delivery of acute stroke unit (SU) care, intravenous thrombolysis (IVT) and endovascular treatment (EVT) in the European region in 2019 and 2020. Patients and methods: We compared national data per number of inhabitants and per 100 annual incident first-ever ischaemic strokes (AIIS) in 46 countries. Population estimates and ischaemic stro