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Sökning: WFRF:(Nickelsen C)

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1.
  • Surendran, Praveen, et al. (författare)
  • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
  • 2016
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1151-1161
  • Tidskriftsartikel (refereegranskat)abstract
    • High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used -1/4155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
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2.
  • Ayres-de-Campos, D, et al. (författare)
  • Can the reproducibility of fetal heart rate baseline estimation be improved?
  • 2004
  • Ingår i: European Journal of Obstetrics, Gynecology, and Reproductive Biology. - 0301-2115. ; 112:1, s. 49-54
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: To evaluate the reproducibility of fetal heart rate (FHR) baseline estimation according to an objective and detailed definition presented in this article, by comparison with the FIGO guidelines' definition. Study design: Three hundred consecutively acquired FHR tracings, 150 from antepartum high-risk pregnancies and 150 from unselected intrapartum cases, were presented to nine experienced clinicians included in three different groups, for an estimation of the FHR baseline. The first group consisted of clinicians using the proposed definition, without previous training in its use. The second group consisted of clinicians using the proposed definition, where a previous training session was promoted. The third group consisted of clinicians using the FIGO guidelines' definition. Agreement in baseline estimation was evaluated using the kappa statistic, the proportions of agreement and the intra-class correlation coefficient. Results: Using the baseline definition proposed in this article, agreement was significantly higher in the group with prior training in its use. This group also showed a trend towards a higher agreement than the one using the FIGO guidelines. Conclusion: The FHR baseline definition proposed in this article provides an extremely reproducible estimation when associated with prior training in its use.
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