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Träfflista för sökning "WFRF:(Hanna Michael G.) srt2:(2015-2019);spr:eng;srt2:(2019)"

Search: WFRF:(Hanna Michael G.) > (2015-2019) > English > (2019)

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1.
  • Pennells, Lisa, et al. (author)
  • Equalization of four cardiovascular risk algorithms after systematic recalibration : individual-participant meta-analysis of 86 prospective studies
  • 2019
  • In: European Heart Journal. - : Oxford University Press (OUP). - 0195-668X .- 1522-9645. ; 40:7, s. 621-
  • Journal article (peer-reviewed)abstract
    • Aims: There is debate about the optimum algorithm for cardiovascular disease (CVD) risk estimation. We conducted head-to-head comparisons of four algorithms recommended by primary prevention guidelines, before and after ‘recalibration’, a method that adapts risk algorithms to take account of differences in the risk characteristics of the populations being studied.Methods and results: Using individual-participant data on 360 737 participants without CVD at baseline in 86 prospective studies from 22 countries, we compared the Framingham risk score (FRS), Systematic COronary Risk Evaluation (SCORE), pooled cohort equations (PCE), and Reynolds risk score (RRS). We calculated measures of risk discrimination and calibration, and modelled clinical implications of initiating statin therapy in people judged to be at ‘high’ 10 year CVD risk. Original risk algorithms were recalibrated using the risk factor profile and CVD incidence of target populations. The four algorithms had similar risk discrimination. Before recalibration, FRS, SCORE, and PCE over-predicted CVD risk on average by 10%, 52%, and 41%, respectively, whereas RRS under-predicted by 10%. Original versions of algorithms classified 29–39% of individuals aged ≥40 years as high risk. By contrast, recalibration reduced this proportion to 22–24% for every algorithm. We estimated that to prevent one CVD event, it would be necessary to initiate statin therapy in 44–51 such individuals using original algorithms, in contrast to 37–39 individuals with recalibrated algorithms.Conclusion: Before recalibration, the clinical performance of four widely used CVD risk algorithms varied substantially. By contrast, simple recalibration nearly equalized their performance and improved modelled targeting of preventive action to clinical need.
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2.
  • Kehoe, Laura, et al. (author)
  • Make EU trade with Brazil sustainable
  • 2019
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Journal article (other academic/artistic)
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3.
  • Bugiardini, Enrico, et al. (author)
  • MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
  • 2019
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 28:16, s. 2711-2719
  • Journal article (peer-reviewed)abstract
    • Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respiratory chain capacity; yet, only a few have been linked to dysfunction in the protein components of the mitochondrial ribosomes. Here, we report a subject presenting with dyskinetic cerebral palsy and partial agenesis of the corpus callosum, while histochemical and biochemical analyses of skeletal muscle revealed signs of mitochondrial myopathy. Using exome sequencing, we identified a homozygous variant c.215C>T in MRPS25, which encodes for a structural component of the 28S small subunit of the mitochondrial ribosome (mS25). The variant segregated with the disease and substitutes a highly conserved proline residue with leucine (p.P72L) that, based on the high-resolution structure of the 28S ribosome, is predicted to compromise inter-protein contacts and destabilize the small subunit. Concordant with the in silico analysis, patient's fibroblasts showed decreased levels of MRPS25 and other components of the 28S subunit. Moreover, assembled 28S subunits were scarce in the fibroblasts with mutant mS25 leading to impaired mitochondrial translation and decreased levels of multiple respiratory chain subunits. Crucially, these abnormalities were rescued by transgenic expression of wild-type MRPS25 in the mutant fibroblasts. Collectively, our data demonstrate the pathogenicity of the p.P72L variant and identify MRPS25 mutations as a new cause of mitochondrial translation defect.
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  • Result 1-3 of 3
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journal article (3)
Type of content
peer-reviewed (2)
other academic/artistic (1)
Author/Editor
Engström, Gunnar (1)
Khaw, Kay-Tee (1)
Wareham, Nick (1)
Rothhaupt, Karl-Otto (1)
Salomaa, Veikko (1)
Weigend, Maximilian (1)
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Ingelsson, Martin (1)
Farrell, Katharine N ... (1)
Melander, Olle (1)
Nilsson, Peter M (1)
Cooper, Cyrus (1)
Davey Smith, George (1)
Nordestgaard, Borge ... (1)
Brenner, Hermann (1)
Sattar, Naveed (1)
Rosengren, Annika, 1 ... (1)
Hedblad, Bo (1)
Islar, Mine (1)
Krause, Torsten (1)
Uddling, Johan, 1972 (1)
Alexanderson, Helena (1)
Schneider, Christoph (1)
Björkelund, Cecilia, ... (1)
Battiston, Roberto (1)
Geleijnse, Johanna M ... (1)
Gillum, Richard F. (1)
Sundström, Johan, Pr ... (1)
Arndt, Volker (1)
Panico, Salvatore (1)
Lukic, Marko (1)
Pereira, Laura (1)
Riggi, Laura (1)
Cattaneo, Claudio (1)
Jung, Martin (1)
Holleczek, Bernd (1)
Schottker, Ben (1)
Andresen, Louise C. (1)
Kasimir, Åsa (1)
Wang-Erlandsson, Lan (1)
Ridker, Paul M. (1)
Jorgensen, Torben (1)
Gaziano, J Michael (1)
Sutherland, William ... (1)
Tybjaerg-Hansen, Ann ... (1)
Boonstra, Wiebren J. (1)
Dankner, Rachel (1)
Amunts, Alexey (1)
Vajda, Vivi (1)
Pascual, Unai (1)
Tscharntke, Teja (1)
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University
Lund University (2)
University of Gothenburg (1)
Royal Institute of Technology (1)
Uppsala University (1)
Stockholm University (1)
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Chalmers University of Technology (1)
Karolinska Institutet (1)
Swedish University of Agricultural Sciences (1)
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Language
English (3)Undo refine
Research subject (UKÄ/SCB)
Natural sciences (2)
Engineering and Technology (1)
Medical and Health Sciences (1)
Social Sciences (1)
Year
2019 (3)Undo refine

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