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- Cousin, E., et al.
(författare)
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Diabetes mortality and trends before 25 years of age: an analysis of the Global Burden of Disease Study 2019
- 2022
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Ingår i: Lancet Diabetes & Endocrinology. - : Elsevier BV. - 2213-8587. ; 10:3, s. 177-192
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Tidskriftsartikel (refereegranskat)abstract
- Background Diabetes, particularly type 1 diabetes, at younger ages can be a largely preventable cause of death with the correct health care and services. We aimed to evaluate diabetes mortality and trends at ages younger than 25 years globally using data from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019. Methods We used estimates of GBD 2019 to calculate international diabetes mortality at ages younger than 25 years in 1990 and 2019. Data sources for causes of death were obtained from vital registration systems, verbal autopsies, and other surveillance systems for 1990-2019. We estimated death rates for each location using the GBD Cause of Death Ensemble model. We analysed the association of age-standardised death rates per 100 000 population with the Socio-demographic Index (SDI) and a measure of universal health coverage (UHC) and described the variability within SDI quintiles. We present estimates with their 95% uncertainty intervals. Findings In 2019, 16 300 (95% uncertainty interval 14 200 to 18 900) global deaths due to diabetes (type 1 and 2 combined) occurred in people younger than 25 years and 73.7% (68.3 to 77.4) were classified as due to type 1 diabetes. The age-standardised death rate was 0.50 (0.44 to 0.58) per 100 000 population, and 15 900 (97.5%) of these deaths occurred in low to high-middle SDI countries. The rate was 0.13 (0.12 to 0.14) per 100 000 population in the high SDI quintile, 0.60 (0.51 to 0.70) per 100 000 population in the low-middle SDI quintile, and 0.71 (0.60 to 0.86) per 100 000 population in the low SDI quintile. Within SDI quintiles, we observed large variability in rates across countries, in part explained by the extent of UHC (r(2)=0.62). From 1990 to 2019, age-standardised death rates decreased globally by 17.0% (-28.4 to -2.9) for all diabetes, and by 21.0% (-33.0 to -5.9) when considering only type 1 diabetes. However, the low SDI quintile had the lowest decline for both all diabetes (-13.6% [-28.4 to 3.4]) and for type 1 diabetes (-13.6% [-29.3 to 8.9]). Interpretation Decreasing diabetes mortality at ages younger than 25 years remains an important challenge, especially in low and low-middle SDI countries. Inadequate diagnosis and treatment of diabetes is likely to be major contributor to these early deaths, highlighting the urgent need to provide better access to insulin and basic diabetes education and care. This mortality metric, derived from readily available and frequently updated GBD data, can help to monitor preventable diabetes-related deaths over time globally, aligned with the UN's Sustainable Development Targets, and serve as an indicator of the adequacy of basic diabetes care for type 1 and type 2 diabetes across nations. Copyright (C) 2022 The Author(s). Published by Elsevier Ltd.
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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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| 9. |
- Choubey, Sandhya, et al.
(författare)
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Sensitivity to neutrino decay with atmospheric neutrinos at the INO-ICAL detector
- 2018
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Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 97:3
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Tidskriftsartikel (refereegranskat)abstract
- Sensitivity of the magnetized Iron Calorimeter (ICAL) detector at the proposed India-based Neutrino Observatory (INO) to invisible decay of the mass eigenstate nu(3) using atmospheric neutrinos is explored. A full three-generation analysis including Earth matter effects is performed in a framework with both decay and oscillations. The wide energy range and baselines offered by atmospheric neutrinos are shown to be excellent for constraining the nu(3) lifetime. We find that with an exposure of 500 kton - yr the ICAL atmospheric experiment could constrain the. 3 lifetime to tau(3)/m(3) > 1.51 x 10(-10) s/eV at the 90% C.L. This is 2 orders of magnitude tighter than the bound from MINOS. The effect of invisible decay on the precision measurement of theta(23) and vertical bar Delta m(32)(2)vertical bar is also studied.
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- Coomar, Poulomee, et al.
(författare)
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Contrasting controls on hydrogeochemistry of arsenic-enriched groundwater in the homologous tectonic settings of Andean and Himalayan basin aquifers, Latin America and South Asia
- 2019
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Ingår i: Science of the Total Environment. - : Elsevier BV. - 0048-9697 .- 1879-1026. ; 689, s. 1370-1387
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Tidskriftsartikel (refereegranskat)abstract
- High groundwater arsenic (As) across the globe has been one of the most well researched environmental concerns during the last two decades. Consequently, a large scientific knowledge-base has been developed on As distributions from local to global scales. However, differences in bulk sediment As concentrations cannot account for the As concentration variability in groundwater. Instead, in general, only aquifers in sedimentary basins adjacent to mountain chains (orogenic foreland basins) along continental convergent tectonic margins are found to be As enriched. We illustrate this association by integrating observations from long-term studies of two of the largest orogenic systems (i.e., As sources) and the aquifers in their associated foreland basins (As sinks), which are located in opposite hemispheres and experience distinct differences in climate and land-use patterns. The Andean orogenic system of South America (AB), an active continental margin, is in principle a modern analogue of the Himalayan orogenic system associated with the Indus-Ganges-Brahmaputra river systems in South Asia (HB). In general, the differences in hydrogeochemistry between AB and HB groundwaters are conspicuous. Major-solute composition of the arid, oxic AB groundwater exhibits a mixed-ion hydrochemical facies dominated by Na-Ca-Cl-SO4-HCO3. Molar calculations and thermodynamic modeling show that although groundwater of AB is influenced by cation exchange, its hydrochemical evolution is predominated by feldspar dissolution and relationships with secondary clays. In contrast, humid, strongly reducing groundwater of HB is dominated by Ca-HCO3 facies, suggestive of calcite dissolution, along with some weathering of silicates (monosiallitization). This work demonstrates that although hydrogeochemical evolutionary trends may vary with local climate and lithology, the fundamental similarities in global tectonic settings can still lead to the elevated concentrations of groundwater As.
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