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Search: WFRF:(Davies Helen)

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  • Ademuyiwa, Adesoji O., et al. (author)
  • Determinants of morbidity and mortality following emergency abdominal surgery in children in low-income and middle-income countries
  • 2016
  • In: BMJ Global Health. - : BMJ Publishing Group Ltd. - 2059-7908. ; 1:4
  • Journal article (peer-reviewed)abstract
    • Background: Child health is a key priority on the global health agenda, yet the provision of essential and emergency surgery in children is patchy in resource-poor regions. This study was aimed to determine the mortality risk for emergency abdominal paediatric surgery in low-income countries globally.Methods: Multicentre, international, prospective, cohort study. Self-selected surgical units performing emergency abdominal surgery submitted prespecified data for consecutive children aged <16 years during a 2-week period between July and December 2014. The United Nation's Human Development Index (HDI) was used to stratify countries. The main outcome measure was 30-day postoperative mortality, analysed by multilevel logistic regression.Results: This study included 1409 patients from 253 centres in 43 countries; 282 children were under 2 years of age. Among them, 265 (18.8%) were from low-HDI, 450 (31.9%) from middle-HDI and 694 (49.3%) from high-HDI countries. The most common operations performed were appendectomy, small bowel resection, pyloromyotomy and correction of intussusception. After adjustment for patient and hospital risk factors, child mortality at 30 days was significantly higher in low-HDI (adjusted OR 7.14 (95% CI 2.52 to 20.23), p<0.001) and middle-HDI (4.42 (1.44 to 13.56), p=0.009) countries compared with high-HDI countries, translating to 40 excess deaths per 1000 procedures performed.Conclusions: Adjusted mortality in children following emergency abdominal surgery may be as high as 7 times greater in low-HDI and middle-HDI countries compared with high-HDI countries. Effective provision of emergency essential surgery should be a key priority for global child health agendas.
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  • Zuntini, Alexandre R., et al. (author)
  • Phylogenomics and the rise of the angiosperms
  • 2024
  • In: NATURE. - 0028-0836 .- 1476-4687. ; 629, s. 843-850
  • Journal article (peer-reviewed)abstract
    • Angiosperms are the cornerstone of most terrestrial ecosystems and human livelihoods(1,2). A robust understanding of angiosperm evolution is required to explain their rise to ecological dominance. So far, the angiosperm tree of life has been determined primarily by means of analyses of the plastid genome(3,4). Many studies have drawn on this foundational work, such as classification and first insights into angiosperm diversification since their Mesozoic origins(5-7). However, the limited and biased sampling of both taxa and genomes undermines confidence in the tree and its implications. Here, we build the tree of life for almost 8,000 (about 60%) angiosperm genera using a standardized set of 353 nuclear genes(8). This 15-fold increase in genus-level sampling relative to comparable nuclear studies(9) provides a critical test of earlier results and brings notable change to key groups, especially in rosids, while substantiating many previously predicted relationships. Scaling this tree to time using 200 fossils, we discovered that early angiosperm evolution was characterized by high gene tree conflict and explosive diversification, giving rise to more than 80% of extant angiosperm orders. Steady diversification ensued through the remaining Mesozoic Era until rates resurged in the Cenozoic Era, concurrent with decreasing global temperatures and tightly linked with gene tree conflict. Taken together, our extensive sampling combined with advanced phylogenomic methods shows the deep history and full complexity in the evolution of a megadiverse clade.
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  • Semb, Gunvor, et al. (author)
  • A Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 1. Planning and management.
  • 2017
  • In: Journal of Plastic Surgery and Hand Surgery. - : Taylor & Francis. - 2000-656X .- 2000-6764. ; 51:1, s. 2-13
  • Journal article (peer-reviewed)abstract
    • BACKGROUND AND AIMS: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project.METHOD: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3-4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3-4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3-4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes.RESULTS: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years.CONCLUSION: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series.TRIAL REGISTRATION: ISRCTN29932826.
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  • Su, Zhan, et al. (author)
  • Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
  • 2012
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
  • Journal article (peer-reviewed)abstract
    • Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
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  • Turcot, Valerie, et al. (author)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • Journal article (peer-reviewed)abstract
    • Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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  • Åman, Jan, et al. (author)
  • Umeå X:et, stadsdelarna och en process för framtiden : ett iterativt manifest
  • 2022
  • Other publication (pop. science, debate, etc.)abstract
    • Norrlandsmodellen gör Umeå till modell för framtidens samhällsbyggnad. I Umeå. I Norrland.I ett Sverige som ska visa vägen mot tillgänglighet och demokrati i vår tid. I en värld som behöver läka ihop centrum och periferi, stad och landsbygd, konsumtion och återbruk.Medborgarna har redan engagerats. Och med dem i centrum öppnar sig en unik möjlighet att utveckla ett framtidens Umeå.De gamla europavägarna ger plats för framtiden att gradvis växa fram. Staden kan sys ihop och stadsdelarna får bättre kontakt med varandra.En hållbar livsmiljö, kunskapsstaden och kulturstaden Umeå får en jordmån att växa in de krav som ställs idag: smarta klimatlösningar, zero waste och ökad lokal demokrati samt självförsörjning.Allt börjar i medborgarna. Och fortsätter i samverkan. Välkommen till NORRLANDSMODELLEN.
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Type of publication
journal article (42)
conference paper (3)
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book chapter (2)
other publication (1)
Type of content
peer-reviewed (47)
other academic/artistic (2)
pop. science, debate, etc. (1)
Author/Editor
Nik-Zainal, Serena (16)
Richardson, Andrea L ... (13)
Davies, Helen R. (12)
Martin, Sancha (12)
Borg, Åke (11)
Stratton, Michael R. (11)
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Børresen-Dale, Anne- ... (10)
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Campbell, Peter J. (10)
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Lakhani, Sunil R. (9)
Thomas, Gilles (8)
Alexandrov, Ludmil B ... (8)
Span, Paul N. (8)
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Raine, Keiran (7)
Vincent-Salomon, Ann ... (7)
Caldas, Carlos (6)
Wedge, David C. (6)
Boyault, Sandrine (6)
Knappskog, Stian (6)
Futreal, P. Andrew (6)
Morganella, Sandro (6)
Palmer, Colin N. A. (6)
Salomaa, Veikko (5)
Perola, Markus (5)
Lind, Lars (5)
Rudan, Igor (5)
Wareham, Nicholas J. (5)
Ridker, Paul M. (5)
Chasman, Daniel I. (5)
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Scott, Robert A (5)
Tuomilehto, Jaakko (5)
Rotter, Jerome I. (5)
Samani, Nilesh J. (5)
Butler, Adam (5)
Desmedt, Christine (5)
Foekens, John A. (5)
Papaemmanuil, Elli (5)
Caulfield, Mark J. (5)
Munroe, Patricia B. (5)
Padmanabhan, Sandosh (5)
Deary, Ian J (5)
Zhao, Jing Hua (5)
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Lund University (24)
Karolinska Institutet (15)
Uppsala University (12)
Linköping University (7)
University of Gothenburg (6)
Umeå University (6)
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Linnaeus University (5)
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English (48)
Swedish (2)
Research subject (UKÄ/SCB)
Medical and Health Sciences (36)
Humanities (8)
Natural sciences (7)
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