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- Arking, D. E., et al.
(författare)
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
- 2014
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:8, s. 826-836
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Tidskriftsartikel (refereegranskat)abstract
- The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD. © 2014 Nature America, Inc.
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| 3. |
- Lundin, Andrea, et al.
(författare)
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Thoracic injuries in trauma patients : epidemiology and its influence on mortality
- 2022
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Ingår i: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine. - : Springer Science and Business Media LLC. - 1757-7241. ; 30:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Thoracic injuries are common among trauma patients. Studies on trauma patients with thoracic injuries have reported considerable differences in morbidity and mortality, and there is limited research on comparison between trauma patients with and without thoracic injuries, particularly in the Scandinavian population. Thoracic injuries in trauma patients should be identified early and need special attention since the differences in injury patterns among patient population are important as they entail different treatment regimens and influence patient outcomes. The aim of the study was to describe the epidemiology of trauma patients with and without thoracic injuries and its influence on 30-day mortality.METHODS: Patients were identified through the Karolinska Trauma Register. The Abbreviated Injury Scale (AIS) system was used to find patients with thoracic injuries. Logistic regression analysis was performed to evaluate factors [age, gender, ASA class, GCS (Glasgow Coma Scale), NISS (New Injury Severity Score) and thoracic injury] associated with 30-day mortality.RESULTS: A total of 2397 patients were included. Of those, 768 patients (32%) had a thoracic injury. The mean (± SD, range) age of all patients (n = 2397) was 46 (20, 18-98) years, and the majority (n = 1709, 71%) of the patients were males. There was a greater proportion of patients with rib fractures among older (≥ 60 years) patients, whereas younger patients had a higher proportion of injuries to the internal thoracic organs. The 30-day mortality was 11% (n = 87) in patients with thoracic injury and 4.3% (n = 71) in patients without. After multivariable adjustment, a thoracic injury was found to be associated with an increased risk of 30-day mortality (OR 1.9, 95% CI 1.3-3.0); as was age ≥ 60 years (OR 3.7, 95% CI 2.3-6.0), ASA class 3-4 (OR 2.3, 95% CI 1.4-3.6), GCS 1-8 (OR 21, 95% CI 13-33) and NISS > 15 (OR 4.2, 2.4-7.3).CONCLUSION: Thoracic injury was an independent predictor of 30-day mortality after adjustment for relevant key variables. We also found a difference in injury patterns with older patients having a higher proportion of rib fractures, whilst younger patients suffered more internal thoracic organ injuries.
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| 4. |
- O'Keefe, James H., et al.
(författare)
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Omega-3 Blood Levels and Stroke Risk : A Pooled and Harmonized Analysis of 183 291 Participants From 29 Prospective Studies
- 2024
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Ingår i: Stroke. - : American Heart Association. - 0039-2499 .- 1524-4628. ; 55:1, s. 50-58
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND:The effect of marine omega-3 PUFAs on risk of stroke remains unclear.METHODS:We investigated the associations between circulating and tissue omega-3 PUFA levels and incident stroke (total, ischemic, and hemorrhagic) in 29 international prospective cohorts. Each site conducted a de novo individual-level analysis using a prespecified analytical protocol with defined exposures, covariates, analytical methods, and outcomes; the harmonized data from the studies were then centrally pooled. Multivariable-adjusted HRs and 95% CIs across omega-3 PUFA quintiles were computed for each stroke outcome.RESULTS:Among 183 291 study participants, there were 10 561 total strokes, 8220 ischemic strokes, and 1142 hemorrhagic strokes recorded over a median of 14.3 years follow-up. For eicosapentaenoic acid, comparing quintile 5 (Q5, highest) with quintile 1 (Q1, lowest), total stroke incidence was 17% lower (HR, 0.83 [CI, 0.76–0.91]; P<0.0001), and ischemic stroke was 18% lower (HR, 0.82 [CI, 0.74–0.91]; P<0.0001). For docosahexaenoic acid, comparing Q5 with Q1, there was a 12% lower incidence of total stroke (HR, 0.88 [CI, 0.81–0.96]; P=0.0001) and a 14% lower incidence of ischemic stroke (HR, 0.86 [CI, 0.78–0.95]; P=0.0001). Neither eicosapentaenoic acid nor docosahexaenoic acid was associated with a risk for hemorrhagic stroke. These associations were not modified by either baseline history of AF or prevalent CVD.CONCLUSIONS:Higher omega-3 PUFA levels are associated with lower risks of total and ischemic stroke but have no association with hemorrhagic stroke.
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