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- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Warnberg, MG, et al.
(författare)
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A pilot multicentre cluster randomised trial to compare the effect of trauma life support training programmes on patient and provider outcomes
- 2022
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 12:4, s. e057504-
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Tidskriftsartikel (refereegranskat)abstract
- Trauma accounts for nearly 10% of the global burden of disease. Several trauma life support programmes aim to improve trauma outcomes. There is no evidence from controlled trials to show the effect of these programmes on patient outcomes. We describe the protocol of a pilot study that aims to assess the feasibility of conducting a cluster randomised controlled trial comparing advanced trauma life support (ATLS) and primary trauma care (PTC) with standard care.Methods and analysisWe will pilot a pragmatic three-armed parallel, cluster randomised controlled trial in India, where neither of these programmes are routinely taught. We will recruit tertiary hospitals and include trauma patients and residents managing these patients. Two hospitals will be randomised to ATLS, two to PTC and two to standard care. The primary outcome will be all-cause mortality at 30 days from the time of arrival to the emergency department. Our secondary outcomes will include patient, provider and process measures. All outcomes except time-to-event outcomes will be measured both as final values as well as change from baseline. We will compare outcomes in three combinations of trial arms: ATLS versus PTC, ATLS versus standard care and PTC versus standard care using absolute and relative differences along with associated CIs. We will conduct subgroup analyses across the clinical subgroups men, women, blunt multisystem trauma, penetrating trauma, shock, severe traumatic brain injury and elderly. In parallel to the pilot study, we will conduct community consultations to inform the planning of the full-scale trial.Ethics and disseminationWe will apply for ethics approvals to the local institutional review board in each hospital. The protocol will be published to Clinical Trials Registry—India and ClinicalTrials.gov. The results will be published and the anonymised data and code for analysis will be released publicly.
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