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- 2019
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Vos, Theo, et al.
(författare)
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Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013
- 2015
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Ingår i: The Lancet. - 1474-547X .- 0140-6736. ; 386:9995, s. 743-800
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Tidskriftsartikel (refereegranskat)abstract
- Background Up-to-date evidence about levels and trends in disease and injury incidence, prevalence, and years lived with disability (YLDs) is an essential input into global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013), we estimated these quantities for acute and chronic diseases and injuries for 188 countries between 1990 and 2013. Methods Estimates were calculated for disease and injury incidence, prevalence, and YLDs using GBD 2010 methods with some important refinements. Results for incidence of acute disorders and prevalence of chronic disorders are new additions to the analysis. Key improvements include expansion to the cause and sequelae list, updated systematic reviews, use of detailed injury codes, improvements to the Bayesian meta-regression method (DisMod-MR), and use of severity splits for various causes. An index of data representativeness, showing data availability, was calculated for each cause and impairment during three periods globally and at the country level for 2013. In total, 35 620 distinct sources of data were used and documented to calculated estimates for 301 diseases and injuries and 2337 sequelae. The comorbidity simulation provides estimates for the number of sequelae, concurrently, by individuals by country, year, age, and sex. Disability weights were updated with the addition of new population-based survey data from four countries. Findings Disease and injury were highly prevalent; only a small fraction of individuals had no sequelae. Comorbidity rose substantially with age and in absolute terms from 1990 to 2013. Incidence of acute sequelae were predominantly infectious diseases and short-term injuries, with over 2 billion cases of upper respiratory infections and diarrhoeal disease episodes in 2013, with the notable exception of tooth pain due to permanent caries with more than 200 million incident cases in 2013. Conversely, leading chronic sequelae were largely attributable to non-communicable diseases, with prevalence estimates for asymptomatic permanent caries and tension-type headache of 2.4 billion and 1.6 billion, respectively. The distribution of the number of sequelae in populations varied widely across regions, with an expected relation between age and disease prevalence. YLDs for both sexes increased from 537.6 million in 1990 to 764.8 million in 2013 due to population growth and ageing, whereas the age-standardised rate decreased little from 114.87 per 1000 people to 110.31 per 1000 people between 1990 and 2013. Leading causes of YLDs included low back pain and major depressive disorder among the top ten causes of YLDs in every country. YLD rates per person, by major cause groups, indicated the main drivers of increases were due to musculoskeletal, mental, and substance use disorders, neurological disorders, and chronic respiratory diseases; however HIV/AIDS was a notable driver of increasing YLDs in sub-Saharan Africa. Also, the proportion of disability-adjusted life years due to YLDs increased globally from 21.1% in 1990 to 31.2% in 2013. Interpretation Ageing of the world's population is leading to a substantial increase in the numbers of individuals with sequelae of diseases and injuries. Rates of YLDs are declining much more slowly than mortality rates. The non-fatal dimensions of disease and injury will require more and more attention from health systems. The transition to non-fatal outcomes as the dominant source of burden of disease is occurring rapidly outside of sub-Saharan Africa. Our results can guide future health initiatives through examination of epidemiological trends and a better understanding of variation across countries.
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| 3. |
- Hollestelle, Antoinette, et al.
(författare)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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Tidskriftsartikel (refereegranskat)abstract
- Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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| 4. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 5. |
- Ferrari, Raffaele, et al.
(författare)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 6. |
- Su, Zhan, et al.
(författare)
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
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Tidskriftsartikel (refereegranskat)abstract
- Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
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| 7. |
- Achtert, Peggy, et al.
(författare)
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Properties of Arctic liquid and mixed-phase clouds from shipborne Cloudnet observations during ACSE 2014
- 2020
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Ingår i: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 20:23, s. 14983-15002
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Tidskriftsartikel (refereegranskat)abstract
- This study presents Cloudnet retrievals of Arctic clouds from measurements conducted during a 3-month research expedition along the Siberian shelf during summer and autumn 2014. During autumn, we find a strong reduction in the occurrence of liquid clouds and an increase for both mixed-phase and ice clouds at low levels compared to summer. About 80 % of all liquid clouds observed during the research cruise show a liquid water path below the infrared black body limit of approximately 50 g m(-2). The majority of mixed-phase and ice clouds had an ice water path below 20 g m(-2). Cloud properties are analysed with respect to cloud-top temperature and boundary layer structure. Changes in these parameters have little effect on the geometric thickness of liquid clouds while mixed-phase clouds during warm-air advection events are generally thinner than when such events were absent. Cloud-top temperatures are very similar for all mixed-phase clouds. However, more cases of lower cloudtop temperature were observed in the absence of warm-air advection. Profiles of liquid and ice water content are normalized with respect to cloud base and height. For liquid water clouds, the liquid water content profile reveals a strong increase with height with a maximum within the upper quarter of the clouds followed by a sharp decrease towards cloud top. Liquid water content is lowest for clouds observed below an inversion during warm-air advection events. Most mixedphase clouds show a liquid water content profile with a very similar shape to that of liquid clouds but with lower maximum values during events with warm air above the planetary boundary layer. The normalized ice water content profiles in mixed-phase clouds look different from those of liquid water content. They show a wider range in maximum values with the lowest ice water content for clouds below an inversion and the highest values for clouds above or extending through an inversion. The ice water content profile generally peaks at a height below the peak in the liquid water content profile - usually in the centre of the cloud, sometimes closer to cloud base, likely due to particle sublimation as the crystals fall through the cloud.
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| 8. |
- Brooks, Ian M., et al.
(författare)
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The Turbulent Structure of the Arctic Summer Boundary Layer During The Arctic Summer Cloud-Ocean Study
- 2017
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Ingår i: Journal of Geophysical Research - Atmospheres. - 2169-897X .- 2169-8996. ; 122:18, s. 9685-9704
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Tidskriftsartikel (refereegranskat)abstract
- The mostly ice covered Arctic Ocean is dominated by low-level liquid-or mixed-phase clouds. Turbulence within stratocumulus is primarily driven by cloud top cooling that induces convective instability. Using a suite of in situ and remote sensing instruments we characterize turbulent mixing in Arctic stratocumulus, and for the first time we estimate profiles of the gradient Richardson number at relatively high resolution in both time (10 min) and altitude (10 m). It is found that the mixing occurs both within the cloud, as expected, and by wind shear instability near the surface. About 75% of the time these two layers are separated by a stably stratified inversion at 100-200 m altitude. Exceptions are associated with low cloud bases that allow the cloud-driven turbulence to reach the surface. The results imply that turbulent coupling between the surface and the cloud is sporadic or intermittent.Plain Language Summary: The lower atmosphere over the summertime Arctic Ocean often consists of two well-mixed layers-a surface mixed layer and a cloud mixed layer-that are separated by a weak decoupling layer at about 100 to 300 m above the surface. In these cases, the cloud cannot interact directly with the surface. Large-scale forecast and climate models consistently fail to reproduce this observed structure and may thus fail to correctly reproduce the cloud properties and the amount of energy absorbed by or emitted from the surface as solar and infrared radiation. This contributes to errors in reproducing changes in sea ice concentration over time. Here we use measurements made in the central Arctic to study the processes controlling whether or not the cloud is coupled to the surface. The effect of wind at the surface is found not to be a controlling factor. The depth of the cloud mixed layer is critical, but the multiple processes influencing it cannot be separated using the data available here. However, cooling at cloud top by infrared radiation is key, as is the extension of cloud into the temperature inversion-a unique feature of Arctic clouds.
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| 9. |
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| 10. |
- Cummins, Donald P., et al.
(författare)
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Reducing Parametrization Errors for Polar Surface Turbulent Fluxes Using Machine Learning
- 2024
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Ingår i: Boundary-layer Meteorology. - : Springer. - 0006-8314 .- 1573-1472. ; 190:3
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Tidskriftsartikel (refereegranskat)abstract
- Turbulent exchanges between sea ice and the atmosphere are known to influence the melting rate of sea ice, the development of atmospheric circulation anomalies and, potentially, teleconnections between polar and non-polar regions. Large model errors remain in the parametrization of turbulent heat fluxes over sea ice in climate models, resulting in significant uncertainties in projections of future climate. Fluxes are typically calculated using bulk formulae, based on Monin-Obukhov similarity theory, which have shown particular limitations in polar regions. Parametrizations developed specifically for polar conditions (e.g. representing form drag from ridges or melt ponds on sea ice) rely on sparse observations and thus may not be universally applicable. In this study, new data-driven parametrizations have been developed for surface turbulent fluxes of momentum, sensible heat and latent heat in the Arctic. Machine learning has already been used outside the polar regions to provide accurate and computationally inexpensive estimates of surface turbulent fluxes. To investigate the feasibility of this approach in the Arctic, we have fitted neural-network models to a reference dataset (SHEBA). Predictive performance has been tested using data from other observational campaigns. For momentum and sensible heat, performance of the neural networks is found to be comparable to, and in some cases substantially better than, that of a state-of-the-art bulk formulation. These results offer an efficient alternative to the traditional bulk approach in cases where the latter fails, and can serve to inform further physically based developments.
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