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- Gudbjartsson, Tomas, et al.
(författare)
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Sternal wound infections following open heart surgery – a review
- 2016
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Ingår i: Scandinavian Cardiovascular Journal. - : Informa UK Limited. - 1401-7431 .- 1651-2006. ; 50:5-6, s. 341-348
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Forskningsöversikt (refereegranskat)abstract
- Surgical site infections (SSIs) are common complications after open heart surgery. Fortunately, most are superficial and respond to minor wound debridement and antibiotics. However, 1–3% of patients develop deep sternal wound infections that can be fatal. Late infections with sternocutaneous fistulas, are encountered less often, but represent a complex surgical problem. This evidence-based review covers etiology, risk factors, prevention and treatment of sternal SSIs following open heart surgery with special focus on advances in treatment, especially negative-pressure wound therapy.
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| 5. |
- Heckbert, Scott, et al.
(författare)
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Growing the Precolumbian Maya Social-Ecological System from the Bottom Up
- 2019
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Ingår i: The Oxford Handbook of Historical Ecology and Applied Archaeology / edited by Christian Isendahl and Daryl Stump.. - Oxford : Oxford University Press. - 9780199672691 ; , s. 302-322
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Bokkapitel (refereegranskat)abstract
- Archaeological data can be represented in quantitative models to test theories of societal growth, development, and resilience. This chapter describes the results of simulations employing integrated agent-based, cellular automata, and network models to represent elements of the ancient Maya social-ecological system. The purpose of the model is to better understand the complex dynamics of the Maya civilization and to test quantitative indicators of resilience as predictors of system sustainability or decline. The model examines the relationship between population growth, agricultural production, pressure on ecosystem services, forest succession, value of trade, and the stability of trade networks. These combine to allow agents representing Maya settlements to develop and expand within a landscape that changes under climate variation and responds to anthropogenic pressure. The model is able to reproduce spatial patterns and timelines somewhat analogous to that of the ancient Maya, although this model requires refinement and further archaeological data for calibration.
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| 7. |
- Justice, Anne E., et al.
(författare)
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
- 2019
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
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Tidskriftsartikel (refereegranskat)abstract
- Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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| 9. |
- Marouli, Eirini, et al.
(författare)
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Rare and low-frequency coding variants alter human adult height
- 2017
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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