20 research outputs found

    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease

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    Background\ud In order to identify novel loci associated with Alzheimer's disease (AD), we conducted a genome-wide association study (GWAS) in the Spanish population.\ud \ud Methods\ud We genotyped 1,128 individuals using the Affymetrix Nsp I 250K chip. A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study. To increase the power of the study, we combined our results with those of four other public GWAS datasets by applying identical quality control filters and the same imputation methods, which were then analyzed with a global meta-GWAS. A replication sample with 2,200 sporadic AD patients and 2,301 controls was genotyped to confirm our GWAS findings.\ud \ud Results\ud Meta-analysis of our data and independent replication datasets allowed us to confirm a novel genome-wide significant association of AD with the membrane-spanning 4-domains subfamily A (MS4A) gene cluster (rs1562990, P = 4.40E-11, odds ratio = 0.88, 95% confidence interval 0.85 to 0.91, n = 10,181 cases and 14,341 controls).\ud \ud Conclusions\ud Our results underscore the importance of international efforts combining GWAS datasets to isolate genetic loci for complex diseases

    A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

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    The management of acute venous thromboembolism in clinical practice. Results from the European PREFER in VTE Registry

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    Venous thromboembolism (VTE) is a significant cause of morbidity and mortality in Europe. Data from real-world registries are necessary, as clinical trials do not represent the full spectrum of VTE patients seen in clinical practice. We aimed to document the epidemiology, management and outcomes of VTE using data from a large, observational database. PREFER in VTE was an international, non-interventional disease registry conducted between January 2013 and July 2015 in primary and secondary care across seven European countries. Consecutive patients with acute VTE were documented and followed up over 12 months. PREFER in VTE included 3,455 patients with a mean age of 60.8 ± 17.0 years. Overall, 53.0 % were male. The majority of patients were assessed in the hospital setting as inpatients or outpatients (78.5 %). The diagnosis was deep-vein thrombosis (DVT) in 59.5 % and pulmonary embolism (PE) in 40.5 %. The most common comorbidities were the various types of cardiovascular disease (excluding hypertension; 45.5 %), hypertension (42.3 %) and dyslipidaemia (21.1 %). Following the index VTE, a large proportion of patients received initial therapy with heparin (73.2 %), almost half received a vitamin K antagonist (48.7 %) and nearly a quarter received a DOAC (24.5 %). Almost a quarter of all presentations were for recurrent VTE, with >80 % of previous episodes having occurred more than 12 months prior to baseline. In conclusion, PREFER in VTE has provided contemporary insights into VTE patients and their real-world management, including their baseline characteristics, risk factors, disease history, symptoms and signs, initial therapy and outcomes

    Comparative Analysis of Barriers for Renewable Energy Technologies Diffusion in Finland and Poland

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    Renewable Energy Technologies (RETs) are critical for the energy transition towards environmentally friendly solutions. There are many international regulations enhancing climate change mitigation. However, on a national level, disruptive technologies often struggle with many various barriers. There is ample evidence supporting the claim that innovative energy technologies require the whole ecosystem to support their diffusion. In fact, it is often a case that the change starts at the regional level. Therefore, some country-specific limitations are worth investigating. In this study, we examine various barriers of renewable energy technologies diffusion in the case of two European countries: Finland and Poland in the first phase. It served to perform a comparative analysis in a second stage, revealing the similarities and differences between them. An analysis provides insightful knowledge about the current constraints of widespread and effective renewable energy technologies diffusion. As a conclusion, the directions and possibilities for improvement are suggested.©2020 Springer Nature Switzerland AG. This is an author’s accepted manuscript of a book part in an article published in: Kantola J., Nazir S., Salminen V. (eds) Advances in Human Factors, Business Management and Leadership. Springer, Cham. The final authenticated version is available online at https://doi.org/10.1007/978-3-030-50791-6_34fi=vertaisarvioitu|en=peerReviewed
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