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- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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- Clark, K, et al.
(författare)
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Stigma, displacement stressors and psychiatric morbidity among displaced Syrian men who have sex with men (MSM) and transgender women: a cross-sectional study in Lebanon
- 2021
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:5, s. e046996-
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Tidskriftsartikel (refereegranskat)abstract
- Displaced Syrians face psychiatric morbidity often resulting from displacement-related stressors (eg, resource scarcity). Both men who have sex with men (MSM) and transgender women among the displaced Syrians are particularly vulnerable to mental health challenges given that they also often face stigma-related stressors (eg, discrimination).MethodsBetween January and December 2019 in greater Beirut, 258 Lebanese-born MSM and transgender women and 230 displaced Syrian MSM and transgender women were recruited via respondent-driven sampling to complete an in-person survey assessing displacement-related stressors, stigma-related stressors, depression, anxiety and post-traumatic stress disorder. In the total sample, we first documented the prevalence of psychiatric morbidity among the displaced Syrians; we then assessed associations among displacement-related and stigma-related stressors and each psychiatric outcome.ResultsSixty-three per cent of Syrian participants met criteria for depression compared with 43.8% of Lebanese participants (p<0.001); 21.3% of Syrians met criteria for severe anxiety compared with 13.1% of Lebanese participants (p<0.05) and 33.0% of Syrians met criteria for post-traumatic stress disorder compared with 18.4% of Lebanese participants (p<0.001). Among Syrian MSM and transgender women, sociodemographic characteristics, displacement-related stressors and stigma-related stressors were uniquely associated with psychiatric morbidity.ConclusionDisplaced Syrian MSM and transgender women experience higher levels of psychiatric comorbidities than Lebanese MSM and transgender women in part due to compounding exposure to displacement-related stressors and stigma-related stressors. Informed by tenets of minority stress theory and intersectionality theory, we discuss mental health intervention implications and future directions.
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- Blanken, M. A. J. T., et al.
(författare)
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Sex-specifics of ECT outcome
- 2023
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Ingår i: Journal of Affective Disorders. - : ELSEVIER. - 0165-0327 .- 1573-2517. ; 326, s. 243-248
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Electroconvulsive therapy (ECT) is the most effective treatment for patients with severe major depressive disorder (MDD). Given the known sex differences in MDD, improved knowledge may provide more sex-specific recommendations in clinical guidelines and improve outcome. In the present study we examine sex differences in ECT outcome and its predictors. Methods: Clinical data from 20 independent sites participating in the Global ECT-MRI Research Collaboration (GEMRIC) were obtained for analysis, totaling 500 patients with MDD (58.6 % women) with a mean age of 54.8 years. Severity of depression before and after ECT was assessed with validated depression scales. Remission was defined as a HAM-D score of 7 points or below after ECT. Variables associated with remission were selected based on literature (i.e. depression severity at baseline, age, duration of index episode, and presence of psychotic symptoms). Results: Remission rates of ECT were independent of sex, 48.0 % in women and 45.7 % in men (X2(1) = 0.2, p = 0.70). In the logistic regression analyses, a shorter index duration was identified as a sex-specific predictor for ECT outcome in women (X2(1) = 7.05, p = 0.01). The corresponding predictive margins did show overlapping confidence intervals for men and women. Conclusion: The evidence provided by our study suggests that ECT as a biological treatment for MDD is equally effective in women and men. A shorter duration of index episode was an additional sex-specific predictor for remission in women. Future research should establish whether the confidence intervals for the corresponding predictive margins are overlapping, as we find, or not.
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- Rudman, S. M., et al.
(författare)
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What genomic data can reveal about eco-evolutionary dynamics
- 2018
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Ingår i: Nature Ecology & Evolution. - : Springer Science and Business Media LLC. - 2397-334X. ; 2:1, s. 9-15
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Tidskriftsartikel (refereegranskat)abstract
- Recognition that evolution operates on the same timescale as ecological processes has motivated growing interest in eco-evolutionary dynamics. Nonetheless, generating sufficient data to test predictions about eco-evolutionary dynamics has proved challenging, particularly in natural contexts. Here we argue that genomic data can be integrated into the study of eco-evolutionary dynamics in ways that deepen our understanding of the interplay between ecology and evolution. Specifically, we outline five major questions in the study of eco-evolutionary dynamics for which genomic data may provide answers. Although genomic data alone will not be sufficient to resolve these challenges, integrating genomic data can provide a more mechanistic understanding of the causes of phenotypic change, help elucidate the mechanisms driving eco-evolutionary dynamics, and lead to more accurate evolutionary predictions of eco-evolutionary dynamics in nature.
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- Wasmann, Jan-Willem A., et al.
(författare)
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Computational Audiology: New Approaches to Advance Hearing Health Care in the Digital Age
- 2021
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Ingår i: Ear and Hearing. - : LIPPINCOTT WILLIAMS & WILKINS. - 0196-0202 .- 1538-4667. ; 42:6, s. 1499-1507
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Tidskriftsartikel (refereegranskat)abstract
- The global digital transformation enables computational audiology for advanced clinical applications that can reduce the global burden of hearing loss. In this article, we describe emerging hearing-related artificial intelligence applications and argue for their potential to improve access, precision, and efficiency of hearing health care services. Also, we raise awareness of risks that must be addressed to enable a safe digital transformation in audiology. We envision a future where computational audiology is implemented via interoperable systems using shared data and where health care providers adopt expanded roles within a network of distributed expertise. This effort should take place in a health care system where privacy, responsibility of each stakeholder, and patients safety and autonomy are all guarded by design.
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