| 1. |
- 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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| 3. |
- Bethlehem, RAI, et al.
(författare)
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Brain charts for the human lifespan
- 2022
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 604:79057906, s. 525-
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Tidskriftsartikel (refereegranskat)abstract
- Over the past few decades, neuroimaging has become a ubiquitous tool in basic research and clinical studies of the human brain. However, no reference standards currently exist to quantify individual differences in neuroimaging metrics over time, in contrast to growth charts for anthropometric traits such as height and weight1. Here we assemble an interactive open resource to benchmark brain morphology derived from any current or future sample of MRI data (http://www.brainchart.io/). With the goal of basing these reference charts on the largest and most inclusive dataset available, acknowledging limitations due to known biases of MRI studies relative to the diversity of the global population, we aggregated 123,984 MRI scans, across more than 100 primary studies, from 101,457 human participants between 115 days post-conception to 100 years of age. MRI metrics were quantified by centile scores, relative to non-linear trajectories2 of brain structural changes, and rates of change, over the lifespan. Brain charts identified previously unreported neurodevelopmental milestones3, showed high stability of individuals across longitudinal assessments, and demonstrated robustness to technical and methodological differences between primary studies. Centile scores showed increased heritability compared with non-centiled MRI phenotypes, and provided a standardized measure of atypical brain structure that revealed patterns of neuroanatomical variation across neurological and psychiatric disorders. In summary, brain charts are an essential step towards robust quantification of individual variation benchmarked to normative trajectories in multiple, commonly used neuroimaging phenotypes.
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| 9. |
- Stones, W, et al.
(författare)
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Management of the second stage of labor
- 2012
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Ingår i: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. - : Wiley. - 1879-3479. ; 119:2, s. 111-116
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Tidskriftsartikel (refereegranskat)
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| 10. |
- Ba, Bocar A., et al.
(författare)
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Estimating (Easily Interpreted) Dynamic Training Effects from Experimental Data
- 2017
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Ingår i: Journal of Labor Economics. - : University of Chicago Press. - 0734-306X .- 1537-5307. ; 35, s. S149-S200
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Tidskriftsartikel (refereegranskat)abstract
- We estimate the effect of endogenous training participation on transitions in and out of employment for disadvantaged women in the Job Training Partnership Act (JTPA) study. Decomposing the effect of training on employment into its effects on transitions in and out of employment has the potential to develop more effective programs. We also consider a potentially serious identification problem that arises when individuals do not undertake training immediately, and we propose a test to shed light on this problem. We find that this problem is not important in our context. JTPA classroom training substantially reduced unemployment durations, and thus it complements programs that increase employment durations.
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| 12. |
- Boucher, L. M., et al.
(författare)
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Expanding conceptualizations of harm reduction: results from a qualitative community-based participatory research study with people who inject drugs
- 2017
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Ingår i: Harm Reduction Journal. - : Springer Science and Business Media LLC. - 1477-7517. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- Background: The perspectives of people who use drugs are critical in understanding why people choose to reduce harm in relation to drug use, what practices are considered or preferred in conceptualizations of harm reduction, and which environmental factors interfere with or support the use of harm reduction strategies. This study explores how people who inject drugs (PWID) think about harm reduction and considers the critical imperative of equity in health and social services delivery for this community. Methods: This community-based participatory research study was conducted in a Canadian urban centre. Using a peer-based recruitment and interviewing strategy, semi-structured qualitative interviews were conducted by and with PWID. The Vidaview Life Story Board, an innovative tool where interviewers and participant co-construct a visual "life-scape" using a board, markers, and customized picture magnets, was used to facilitate the interviews. The topics explored included injection drug use and harm reduction histories, facilitators and barriers to using harm reduction strategies, and suggestions for improving services and supports. Results: Twenty-three interviews with PWID (14 men and 9 women) were analysed, with a median age of 50. Results highlighted an expanded conceptualization of harm reduction from the perspectives of PWID, including motivations for adopting harm reduction strategies and a description of harm reduction practices that went beyond conventional health-focused concerns. The most common personal practices that PWID used included working toward moderation, employing various cognitive strategies, and engaging in community activities. The importance of social or peer support and improving self-efficacy was also evident. Further, there was a call for less rigid eligibility criteria and procedures in health and social services, and the need to more adequately address the stigmatization of drug users. Conclusions: These findings demonstrated that PWID incorporate many personal harm reduction practices in their daily lives to improve their well-being, and these practices highlight the importance of agency, self-care, and community building. Health and social services are needed to better support these practices because the many socio-structural barriers this community faces often interfere with harm reduction efforts. Finally, "one size does not fit all" when it comes to harm reduction, and more personalized or de-medicalized conceptualizations are recommended.
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| 13. |
- Chi Fru, Ernest, et al.
(författare)
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Cu isotopes in marine black shales record the Great Oxidation Event
- 2016
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 113:18, s. 4941-4946
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Tidskriftsartikel (refereegranskat)abstract
- The oxygenation of the atmosphere similar to 2.45-2.32 billion years ago (Ga) is one of the most significant geological events to have affected Earth's redox history. Our understanding of the timing and processes surrounding this key transition is largely dependent on the development of redox-sensitive proxies, many of which remain unexplored. Here we report a shift from negative to positive copper isotopic compositions (delta Cu-65(ERM-AE633)) in organic carbon-rich shales spanning the period 2.66-2.08 Ga. We suggest that, before 2.3 Ga, a muted oxidative supply of weathering-derived copper enriched in Cu-65, along with the preferential removal of Cu-65 by iron oxides, left seawater and marine biomass depleted in Cu-65 but enriched in Cu-63. As banded iron formation deposition waned and continentally sourced Cu became more important, biomass sampled a dissolved Cu reservoir that was progressively less fractionated relative to the continental pool. This evolution toward heavy delta Cu-65 values coincides with a shift to negative sedimentary delta Fe-56 values and increased marine sulfate after the Great Oxidation Event (GOE), and is traceable through Phanerozoic shales to modern marine settings, where marine dissolved and sedimentary delta Cu-65 values are universally positive. Our finding of an important shift in sedimentary Cu isotope compositions across the GOE provides new insights into the Precambrian marine cycling of this critical micronutrient, and demonstrates the proxy potential for sedimentary Cu isotope compositions in the study of biogeochemical cycles and oceanic redox balance in the past.
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| 14. |
- Lalonde, A, et al.
(författare)
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Mother-baby friendly birthing facilities
- 2015
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Ingår i: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. - : Wiley. - 1879-3479. ; 128:2, s. 95-99
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Tidskriftsartikel (refereegranskat)
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| 18. |
- Lazarus, Jeffrey, et al.
(författare)
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Reducing postpartum hemorrhage in Africa.
- 2005
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Ingår i: International Journal of Gynecology & Obstetrics. - : Wiley. - 1879-3479 .- 0020-7292. ; 88:1, s. 89-90
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Tidskriftsartikel (refereegranskat)abstract
- Postpartum hemorrhage (PPH) is the leading cause of maternal mortality in sub-Saharan Africa. This is being addressed by leading professional organizations, which point to the importance of a skilled attendant at birth. But they also emphasize that the active management of the third stage of labor is proven to reduce the incidence of PPH. In low-income settings, the prostaglandin misoprostol should be considered as it is low-cost, stable at room temperature and easy to administer.
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| 19. |
- Serra-Majem, L, et al.
(författare)
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Comparative analysis of nutrition data from national, household, and individual levels : results from a WHO-CINDI collaborative project in Canada, Finland, Poland, and Spain
- 2003
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Ingår i: Journal of Epidemiology and Community Health. - : BMJ. - 0143-005X .- 1470-2738. ; 57:1, s. 74-80
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Tidskriftsartikel (refereegranskat)abstract
- STUDY OBJECTIVE: This project determined to what extent data on diet and nutrition, which were collected in a non-uniform manner, could be harmonised and pooled for international and national comparison.DESIGN: Direct comparisons of dietary data between studies were made using food balance sheets (FBS), household budget surveys (HBS), and individual dietary data (IDS); comparisons were also made within countries. Differences in study design and methodological approaches were taken into consideration. Data from research projects from the following four World Health Organisation (WHO) Countrywide Integrated Noncommunicable Disease Intervention (CINDI) countries were included-Canada, Finland, Poland, and Spain.MAIN RESULTS: FBS overestimated food consumption and nutrient intake compared to IDS. Results between HBS and IDS were quite similar, except for fish, meat, pulses and vegetables, which were underestimated by HBS, and sugar and honey and cereals, which were overestimated. Percentages of energy from fat, carbohydrates and proteins were higher when estimated from FBS, HBS, and IDS respectively.CONCLUSIONS: Results suggest that estimations from these three sources of dietary data are difficult to compare because they are measuring different levels of dietary information. The understanding of their relations may be important in formulating and evaluating a nutrition policy.
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