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- Riddle, Matthew C., et al.
(författare)
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Monogenic diabetes : From genetic insights to population-based precision in care. reflections from a diabetes care editors’ expert forum
- 2020
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Ingår i: Diabetes Care. - : American Diabetes Association. - 0149-5992 .- 1935-5548. ; 43:12, s. 3117-3128
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Tidskriftsartikel (refereegranskat)abstract
- Individualization of therapy based on a person’s specific type of diabetes is one key element of a “precision medicine” approach to diabetes care. However, applying such an approach remains difficult because of barriers such as disease heterogeneity, difficulties in accurately diagnosing different types of diabetes, multiple genetic influences, incomplete understanding of pathophysiology, limitations of current therapies, and environmental, social, and psychological factors. Monogenic diabetes, for which single gene mutations are causal, is the category most suited to a precision approach. The pathophysiological mechanisms of monogenic diabetes are understood better than those of any other form of diabetes. Thus, this category offers the advantage of accurate diagnosis of nonoverlapping etiological subgroups for which specific interventions can be applied. Although representing a small proportion of all diabetes cases, monogenic forms present an opportunity to demonstrate the feasibility of precision medicine strategies. In June 2019, the editors of Diabetes Care convened a panel of experts to discuss this opportunity. This article summarizes the major themes that arose at that forum. It presents an overview of the common causes of monogenic diabetes, describes some challenges in identifying and treating these disorders, and reports experience with various approaches to screening, diagnosis, and management. This article complements a larger American Diabetes Association effort supporting implementation of precision medicine for monogenic diabetes, which could serve as a platform for a broader initiative to apply more precise tactics to treating the more common forms of diabetes.
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| 4. |
- Schönström, Rikard
(författare)
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Skapande falskhet. Till metaforens teori
- 1980
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Ingår i: Radix. Tidskrift för humanism. - 0348-0682. ; :3-4, s. 18-59
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 6. |
- Bryant, Fred B., et al.
(författare)
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Confirmatory Factor Analysis of Ordinal Data Using Full-Information Adaptive Quadrature
- 2016
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Ingår i: Australian & New Zealand journal of statistics (Print). - : Wiley. - 1369-1473 .- 1467-842X. ; 58:2, s. 173-196
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Tidskriftsartikel (refereegranskat)abstract
- We conducted confirmatory factor analysis (CFA) of responses (N=803) to a self-reported measure of optimism, using full-information estimation via adaptive quadrature (AQ), an alternative estimation method for ordinal data. We evaluated AQ results in terms of the number of iterations required to achieve convergence, model fit, parameter estimates, standard errors (SE), and statistical significance, across four link-functions (logit, probit, log-log, complimentary log-log) using 3-10 and 20 quadrature points. We compared AQ results with those obtained using maximum likelihood, robust maximum likelihood, and robust diagonally weighted least-squares estimation. Compared to the other two link-functions, logit and probit not only produced fit statistics, parameters estimates, SEs, and levels of significance that varied less across numbers of quadrature points, but also fitted the data better and provided larger completely standardised loadings than did maximum likelihood and diagonally weighted least-squares. Our findings demonstrate the viability of using full-information AQ to estimate CFA models with real-world ordinal data.
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| 7. |
- Vogan, Aaron A., et al.
(författare)
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Meiotic drive is associated with sexual incompatibility in Neurospora
- 2022
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Ingår i: Evolution. - : Wiley. - 0014-3820 .- 1558-5646. ; 76:11, s. 2687-2696
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Tidskriftsartikel (refereegranskat)abstract
- Evolution of Bateson-Dobzhansky-Muller (BDM) incompatibilities is thought to represent a key step in the formation of separate species. They are incompatible alleles that have evolved in separate populations and are exposed in hybrid offspring as hybrid sterility or lethality. In this study, we reveal a previously unconsidered mechanism promoting the formation of BDM incompatibilities, meiotic drive. Theoretical studies have evaluated the role that meiotic drive, the phenomenon whereby selfish elements bias their transmission to progeny at ratios above 50:50, plays in speciation, and have mostly concluded that drive could not result in speciation on its own. Using the model fungus Neurospora, we demonstrate that the large meiotic drive haplotypes, Sk-2 and Sk-3, contain putative sexual incompatibilities. Our experiments revealed that although crosses between Neurospora intermedia and Neurospora metzenbergii produce viable progeny at appreciable rates, when strains of N. intermedia carry Sk-2 or Sk-3 the proportion of viable progeny drops substantially. Additionally, it appears that Sk-2 and Sk-3 have accumulated different incompatibility phenotypes, consistent with their independent evolutionary history. This research illustrates how meiotic drive can contribute to reproductive isolation between populations, and thereby speciation.
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| 10. |
- Lowry, Stephanie, 1979-, et al.
(författare)
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Lightweight, Viewpoint-Invariant Visual Place Recognition in Changing Environments
- 2018
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Ingår i: IEEE Robotics and Automation Letters. - : Institute of Electrical and Electronics Engineers (IEEE). - 2377-3766. ; 3:2, s. 957-964
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a viewpoint-invariant place recognition algorithm which is robust to changing environments while requiring only a small memory footprint. It demonstrates that condition-invariant local features can be combined with Vectors of Locally Aggregated Descriptors (VLAD) to reduce high-dimensional representations of images to compact binary signatures while retaining place matching capability across visually dissimilar conditions. This system provides a speed-up of two orders of magnitude over direct feature matching, and outperforms a bag-of-visual-words approach with near-identical computation speed and memory footprint. The experimental results show that single-image place matching from non-aligned images can be achieved in visually changing environments with as few as 256 bits (32 bytes) per image.
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