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Search: WFRF:(Bizzarro S.)

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1.
  • de Rojas, I., et al. (author)
  • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
  • 2021
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
  • Journal article (peer-reviewed)abstract
    • Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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2.
  • Le Roch, Sarah, et al. (author)
  • European survey on criteria of aesthetics for periodontal evaluation: The ESCAPE study
  • 2019
  • In: Journal of Clinical Periodontology. - : Wiley. - 0303-6979 .- 1600-051X. ; 46:11, s. 1116-1123
  • Journal article (peer-reviewed)abstract
    • © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Objective: The ESCAPE multicentre survey was designed to (a) compare the agreement of three relevant aesthetic scoring systems among different centres, and (b) evaluate the reproducibility of each question of the questionnaires. Materials and Methods: EFP centres (n=14) were involved in an e-survey. Forty-two participants (28 teachers, 14 postgraduate students) were asked to score the one-year aesthetic outcomes of photographs using the Before–After Scoring System (BASS), the Pink Esthetic Score (PES) and the Root coverage Esthetic Score (RES). Mean values of kappa statistics performed on each question were provided to resume global agreement of each method. Results: Between teachers, a difference of kappa≥0.41 (p=.01) was found for BASS (75%) and PES (57%). Similarly, RES (84%) and PES (57%) were different (p<.001). No difference was found between BASS (75%) and RES (84%). No difference was found between students, whatever the scoring system. Questions of each scoring system showed differences in their reproducibility. Conclusions: The outcomes of this study indicate that BASS and RES scoring systems are reproducible tools to evaluate aesthetic after root coverage therapies between different centres. Among the various variables, lack of scar, degree of root coverage, colour match and gingival margin that follows the CEJ show the best reliability.
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3.
  • Saji, N. S., et al. (author)
  • Hadean geodynamics inferred from time-varying 142Nd/144Nd in the early Earth rock record
  • 2018
  • In: Geochemical Perspectives Letters. ; 7, s. 43-48
  • Journal article (peer-reviewed)abstract
    • Tracking the secular evolution of 142Nd/144Nd anomalies is important towards understanding the crust-mantle dynamics in the early Earth. Excessive scatter in the published data, however, precludes identifying the fine structure of 142Nd/144Nd evolution as the expected variability is on the order of few parts per million. We report ultra-high precision 142Nd/144Nd data for Eoarchean and Palaeoarchean rocks from the Isua Supracrustal Belt (SW Greenland) that show a well-resolved 142Nd/144Nd temporal variability suggesting progressive convective homogenisation of the Hadean Isua depleted mantle. This temporally decreasing 142Nd/144Nd signal provides a direct measure of early mantle dynamics, defining a stirring timescale of <250 Myr consistent with vigorous convective stirring in the early mantle. The 142Nd/144Nd evolution suggests protracted crustal residence times of ~1000-2000 Myr, inconsistent with modern-style plate tectonics in the Archean. In contrast, a stagnant-lid regime punctuated by episodes of mantle overturns accounts for the long life-time estimated here for the Hadean proto-crust.
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