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Sökning: WFRF:(Kinnunen I) > (2010-2014)

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1.
  • Speliotes, Elizabeth K., et al. (författare)
  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
  • Tidskriftsartikel (refereegranskat)abstract
    • Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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  • Heid, Iris M, et al. (författare)
  • Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
  • Tidskriftsartikel (refereegranskat)abstract
    • Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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  • Jaiswal, Siddhartha, et al. (författare)
  • Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes.
  • 2014
  • Ingår i: New England Journal of Medicine. - 0028-4793. ; 371:26, s. 2488-2498
  • Tidskriftsartikel (refereegranskat)abstract
    • Background The incidence of hematologic cancers increases with age. These cancers are associated with recurrent somatic mutations in specific genes. We hypothesized that such mutations would be detectable in the blood of some persons who are not known to have hematologic disorders. Methods We analyzed whole-exome sequencing data from DNA in the peripheral-blood cells of 17,182 persons who were unselected for hematologic phenotypes. We looked for somatic mutations by identifying previously characterized single-nucleotide variants and small insertions or deletions in 160 genes that are recurrently mutated in hematologic cancers. The presence of mutations was analyzed for an association with hematologic phenotypes, survival, and cardiovascular events. Results Detectable somatic mutations were rare in persons younger than 40 years of age but rose appreciably in frequency with age. Among persons 70 to 79 years of age, 80 to 89 years of age, and 90 to 108 years of age, these clonal mutations were observed in 9.5% (219 of 2300 persons), 11.7% (37 of 317), and 18.4% (19 of 103), respectively. The majority of the variants occurred in three genes: DNMT3A, TET2, and ASXL1. The presence of a somatic mutation was associated with an increase in the risk of hematologic cancer (hazard ratio, 11.1; 95% confidence interval [CI], 3.9 to 32.6), an increase in all-cause mortality (hazard ratio, 1.4; 95% CI, 1.1 to 1.8), and increases in the risks of incident coronary heart disease (hazard ratio, 2.0; 95% CI, 1.2 to 3.4) and ischemic stroke (hazard ratio, 2.6; 95% CI, 1.4 to 4.8). Conclusions Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly due to an increased risk of cardiovascular disease. (Funded by the National Institutes of Health and others.).
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  • Perheentupa, U, et al. (författare)
  • Frontobasilar fractures: proposal for image reviewing algorithm
  • 2014
  • Ingår i: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery. - : Elsevier BV. - 1878-4119. ; 42:4, s. 305-312
  • Tidskriftsartikel (refereegranskat)
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  • Perheentupa, U, et al. (författare)
  • Subcranial craniotomy approach for frontobasal fracture correction
  • 2014
  • Ingår i: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery. - : Elsevier BV. - 1878-4119. ; 42:7, s. 1371-1377
  • Tidskriftsartikel (refereegranskat)
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  • Ruifrok, Anneloes E, et al. (författare)
  • Study protocol : Differential effects of diet and physical activity based interventions in pregnancy on maternal and fetal outcomes: Individual patient data (IPD) meta-analysis and health economic evaluation
  • 2014
  • Ingår i: Systematic Reviews. - : Springer Science and Business Media LLC. - 2046-4053. ; 3
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundPregnant women who gain excess weight are at risk of complications during pregnancy and in the long term. Interventions based on diet and physical activity minimise gestational weight gain with varied effect on clinical outcomes. The effect of interventions on varied groups of women based on body mass index, age, ethnicity, socioeconomic status, parity, and underlying medical conditions is not clear. Our individual patient data (IPD) meta-analysis of randomised trials will assess the differential effect of diet- and physical activity-based interventions on maternal weight gain and pregnancy outcomes in clinically relevant subgroups of women.Methods/designRandomised trials on diet and physical activity in pregnancy will be identified by searching the following databases: MEDLINE, EMBASE, BIOSIS, LILACS, Pascal, Science Citation Index, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, and Health Technology Assessment Database. Primary researchers of the identified trials are invited to join the International Weight Management in Pregnancy Collaborative Network and share their individual patient data. We will reanalyse each study separately and confirm the findings with the original authors. Then, for each intervention type and outcome, we will perform as appropriate either a one-step or a two-step IPD meta-analysis to obtain summary estimates of effects and 95% confidence intervals, for all women combined and for each subgroup of interest. The primary outcomes are gestational weight gain and composite adverse maternal and fetal outcomes. The difference in effects between subgroups will be estimated and between-study heterogeneity suitably quantified and explored. The potential for publication bias and availability bias in the IPD obtained will be investigated. We will conduct a model-based economic evaluation to assess the cost effectiveness of the interventions to manage weight gain in pregnancy and undertake a value of information analysis to inform future research.
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11.
  • Uhlig, Jens, et al. (författare)
  • Table-Top Ultrafast X-Ray Microcalorimeter Spectrometry for Molecular Structure
  • 2013
  • Ingår i: Physical Review Letters. - 1079-7114. ; 110:13
  • Tidskriftsartikel (refereegranskat)abstract
    • This work presents an x-ray absorption measurement by use of ionizing radiation generated by a femtosecond pulsed laser source. The spectrometer was a microcalorimetric array whose pixels are capable of accurately measuring energies of individual radiation quanta. An isotropic continuum x-ray spectrum in the few-keV range was generated from a laser plasma source with a water-jet target. X rays were transmitted through a ferrocene powder sample to the detector, whose pixels have average photon energy resolution Delta E = 3.14 eV full-width-at-half-maximum at 5.9 keV. The bond distance of ferrocene was retrieved from this first hard-x-ray absorption fine-structure spectrum collected with an energy-dispersive detector. This technique will be broadly enabling for time-resolved observations of structural dynamics in photoactive systems. DOI: 10.1103/PhysRevLett.110.138302
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  • Veljkovic, Milan, et al. (författare)
  • High-strength tower in steel for wind turbines (Histwin) : Final report
  • 2012
  • Rapport (refereegranskat)abstract
    • Innovative solutions for assembling joints of a tubular tower for wind turbines were studied and the project provides a background for design. This solution is simpler to produce and 80 % less expensive than traditional flange connection. Our feasibility study at the production plant indicates that the towers would be easy to assemble in situ. In addition to the direct cost savings due to the technical simplicity of the solution, the higher fatigue endurance than that of the flange connection is experimentally established. Further reduction of costs due to optimal use of higher-strength steel grades, especially in the bottom segments of the tower where the stiffening of the door opening is costly, is shown in the report. The total reduction of the costs for tower is estimated at about 10–15 % compared to the traditional tower. The project objectives are achieved in following sequences. • Experimental activities of the friction connection: small-scale tests to establish resistance of the friction connection for a variety of faying surfaces and bolt types, accompanying testing to ensure realistic input data for FEA, long-term testing to establish loss of pretension forces during the lifetime and fatigue tests.• Bending test of the friction and flange connection in a down-scaled tower. • Feasibility of production of the tower segments in the laboratory and at the production plant. • Monitoring of the existing tower to access a stress variation during the operation. • FEA analysis of experimental results and a complete case study of the monitored tower. Numerical examples for design of the friction connection are given for the sake of illustration and to encourage use of the new connection
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