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- Lumbers, R. T., et al.
(författare)
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The genomics of heart failure: design and rationale of the HERMES consortium
- 2021
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Ingår i: Esc Heart Failure. - : Wiley. - 2055-5822. ; 8:6, s. 5531-5541
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Tidskriftsartikel (refereegranskat)abstract
- Aims The HERMES (HEart failure Molecular Epidemiology for Therapeutic targets) consortium aims to identify the genomic and molecular basis of heart failure. Methods and results The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and performed genome-wide genotyping of common genetic variants. The enrolment of subjects into participating studies ranged from 1948 to the present day, and the median follow-up following heart failure diagnosis ranged from 2 to 116 months. Forty-nine of 51 individual studies enrolled participants of both sexes; in these studies, participants with heart failure were predominantly male (34-90%). The mean age at diagnosis or ascertainment across all studies ranged from 54 to 84 years. Based on the aggregate sample, we estimated 80% power to genetic variant associations with risk of heart failure with an odds ratio of >1.10 for common variants (allele frequency > 0.05) and >1.20 for low-frequency variants (allele frequency 0.01-0.05) at P < 5 x 10(-8) under an additive genetic model. Conclusions HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction.
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| 3. |
- Shah, S, et al.
(författare)
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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.
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- Modin, A., et al.
(författare)
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Closed source experimental system for soft x-ray spectroscopy of radioactive materials
- 2008
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Ingår i: Review of Scientific Instruments. - : AIP Publishing. - 0034-6748 .- 1089-7623. ; 79:9, s. 093103-
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Tidskriftsartikel (refereegranskat)abstract
- An instrumental and experimental setup for soft x-ray spectroscopy meeting the requirements of a closed source for radioactivity is described. The system consists of a vacuum sealed cell containing the sample, mounted on a tubing system to ensure compatibility with most standard manipulators. The soft x rays penetrate a thin x-ray window separating the interior of the cell from the vacuum in the experimental chamber. Our first results for single crystal PuO2 confirm the feasibility of experiments using the setup. The results are consistent with results of first principles calculations and previously recorded spectra obtained using a standard open source setup. The results show that the closed source experimental system can be used to collect valuable experimental data from radioactive materials.
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| 6. |
- Andersson, Erik, et al.
(författare)
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Ambio fit for the 2020s
- 2022
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Ingår i: Ambio. - : Springer Nature. - 0044-7447 .- 1654-7209. ; 51:5, s. 1091-1093
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Tidskriftsartikel (refereegranskat)
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| 8. |
- Sommerfelt, K, et al.
(författare)
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Neuropsychologic and Motor Function in Small-for-Gestation Preschoolers
- 2002
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Ingår i: Pediatric Neurology. - 0887-8994 .- 1873-5150. ; 26:3, s. 186-191
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to evaluate neuropsychologic and motor performance in term small-for-gestation preschool children. A patient-based sample of 311 5-year-old children with birth weights less than the fifteenth percentile for gestation was compared with a random sample of 321 appropriate-for-gestation control subjects. The main assessment tools were subscales from the Wechsler Preschool and Primary Scale of Intelligence Revised, subscales from the Illinois Test of Psycholinguistic Abilities, tests of manual dexterity and figure copying, and the Peabody Developmental Motor Scales. The small-for-gestation children had mean scores on tests of visuospatial and visuomotor abilities that were one fourth standard deviation lower than appropriate-for-gestation control subjects and slightly lower scores on manual dexterity. The small-for-gestation children were comparable to appropriate-for-gestation children regarding motor performance. We therefore conclude that the neuropsychologic and neuromotor performance in preschool years of term small-for-gestation children is reassuring.
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| 9. |
- Thacher, Jesse D., et al.
(författare)
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Occupational noise exposure and risk of incident stroke: a pooled study of five Scandinavian cohorts
- 2022
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Ingår i: OCCUPATIONAL AND ENVIRONMENTAL MEDICINE. - : BMJ. - 1351-0711 .- 1470-7926. ; 79:9, s. 594-601
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To investigate the association between occupational noise exposure and stroke incidence in a pooled study of five Scandinavian cohorts (NordSOUND). Methods We pooled and harmonised data from five Scandinavian cohorts resulting in 78 389 participants. We obtained job data from national registries or questionnaires and recoded these to match a job-exposure matrix developed in Sweden, which specified the annual average daily noise exposure in five exposure classes (L-Aeq8h): <70, 70-74, 75-79, 80-84, >= 85 dB(A). We identified residential address history and estimated 1-year average road traffic noise at baseline. Using national patient and mortality registers, we identified 7777 stroke cases with a median follow-up of 20.2 years. Analyses were conducted using Cox proportional hazards models adjusting for individual and area-level potential confounders. Results Exposure to occupational noise at baseline was not associated with overall stroke in the fully adjusted models. For ischaemic stroke, occupational noise was associated with HRs (95% CI) of 1.08 (0.98 to 1.20), 1.09 (0.97 to 1.24) and 1.06 (0.92 to 1.21) in the 75-79, 80-84 and >= 85 dB(A) exposure groups, compared with <70 dB(A), respectively. In subanalyses using time-varying occupational noise exposure, we observed an indication of higher stroke risk among the most exposed (>= 85 dB(A)), particularly when restricting analyses to people exposed to occupational noise within the last year (HR: 1.27; 95% CI: 0.99 to 1.63). Conclusions We found no association between occupational noise and risk of overall stroke after adjustment for confounders. However, the non-significantly increased risk of ischaemic stroke warrants further investigation.
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