| 1. |
- Tobias, Deirdre K, et al.
(författare)
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Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
- 2023
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Ingår i: Nature Medicine. - 1546-170X. ; 29:10, s. 2438-2457
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Forskningsöversikt (refereegranskat)abstract
- Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine.
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| 2. |
- Solé Navais, Pol, et al.
(författare)
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Genetic effects on the timing of parturition and links to fetal birth weight.
- 2023
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Ingår i: Nature genetics. - 1546-1718. ; 55:4, s. 559-567
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Tidskriftsartikel (refereegranskat)abstract
- The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n=195,555), identifying 22 associated loci (24 independent variants) and an enrichment in genes differentially expressed during labor. A meta-analysis of preterm delivery (18,797 cases, 260,246 controls) revealed six associated loci and large genetic similarities with gestational duration. Analysis of the parental transmitted and nontransmitted alleles (n=136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, whereas 7 act both through the maternal and fetal genomes and 2 act only via the fetal genome. Finally, the maternal effects on gestational duration show signs of antagonistic pleiotropy with the fetal effects on birth weight: maternal alleles that increase gestational duration have negative fetal effects on birth weight. The present study provides insights into the genetic effects on the timing of parturition and the complex maternal-fetal relationship between gestational duration and birth weight.
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| 3. |
- Fritsch, Daniel J., et al.
(författare)
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Experimental and Computational Study of 2D Smooth Wall Turbulent Boundary Layers in Pressure Gradient
- 2022
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Ingår i: AIAA Science and Technology Forum and Exposition, AIAA SciTech Forum 2022. - Reston, Virginia : American Institute of Aeronautics and Astronautics.
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Konferensbidrag (refereegranskat)abstract
- This paper describes a collaborative experimental and computational study of smooth wall boundary layers in a systematic family of favorable and adverse pressure gradients. The objective is to advance turbulence modeling of these flows, in particular the effects of pressure gradients that can be classified as non-equilibrium. This collaboration is a component of the larger NATO AVT-349 Research Task Group. Experiments under this effort are conducted at Virginia Tech and computational efforts are presented from Virginia Tech, the German Aerospace Center (DLR), the University of Melbourne, Chalmers University of Technology, the Maritime Research Institute Netherlands (MARIN) in conjunction with the University of Lisbon Instituto Superior Técnico (IST) (MARIN/IST), and the Sirehna Naval Group. This paper describes some of the key elements of the experimental and computational approaches, the efforts made for cross-discipline collaboration, verification, and validation, and reports on some initial results and findings. The agreement between various RANS solutions and RANS turbulence models and between RANS solutions and experiment are generally good, but questions remain as to the efficacy of RANS modeling for non-equilibrium boundary layer flows and some potential directions for future investigations are suggested.
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