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- Hay, S. I., et al.
(author)
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Global, regional, and national disability-adjusted life-years (DALYs) for 333 diseases and injuries and healthy life expectancy (HALE) for 195 countries and territories, 1990-2016 : A systematic analysis for the Global Burden of Disease Study 2016
- 2017
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In: The Lancet. - : Lancet Publishing Group. - 0140-6736 .- 1474-547X. ; 390:10100, s. 1260-1344
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Journal article (peer-reviewed)abstract
- Background: Measurement of changes in health across locations is useful to compare and contrast changing epidemiological patterns against health system performance and identify specific needs for resource allocation in research, policy development, and programme decision making. Using the Global Burden of Diseases, Injuries, and Risk Factors Study 2016, we drew from two widely used summary measures to monitor such changes in population health: disability-adjusted life-years (DALYs) and healthy life expectancy (HALE). We used these measures to track trends and benchmark progress compared with expected trends on the basis of the Socio-demographic Index (SDI). Methods: We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 for all-cause mortality, cause-specific mortality, and non-fatal disease burden to derive HALE and DALYs by sex for 195 countries and territories from 1990 to 2016. We calculated DALYs by summing years of life lost and years of life lived with disability for each location, age group, sex, and year. We estimated HALE using age-specific death rates and years of life lived with disability per capita. We explored how DALYs and HALE difered from expected trends when compared with the SDI: the geometric mean of income per person, educational attainment in the population older than age 15 years, and total fertility rate. Findings: The highest globally observed HALE at birth for both women and men was in Singapore, at 75·2 years (95% uncertainty interval 71·9-78·6) for females and 72·0 years (68·8-75·1) for males. The lowest for females was in the Central African Republic (45·6 years [42·0-49·5]) and for males was in Lesotho (41·5 years [39·0-44·0]). From 1990 to 2016, global HALE increased by an average of 6·24 years (5·97-6·48) for both sexes combined. Global HALE increased by 6·04 years (5·74-6·27) for males and 6·49 years (6·08-6·77) for females, whereas HALE at age 65 years increased by 1·78 years (1·61-1·93) for males and 1·96 years (1·69-2·13) for females. Total global DALYs remained largely unchanged from 1990 to 2016 (-2·3% [-5·9 to 0·9]), with decreases in communicable, maternal, neonatal, and nutritional (CMNN) disease DALYs ofset by increased DALYs due to non-communicable diseases (NCDs). The exemplars, calculated as the fve lowest ratios of observed to expected age-standardised DALY rates in 2016, were Nicaragua, Costa Rica, the Maldives, Peru, and Israel. The leading three causes of DALYs globally were ischaemic heart disease, cerebrovascular disease, and lower respiratory infections, comprising 16·1% of all DALYs. Total DALYs and age-standardised DALY rates due to most CMNN causes decreased from 1990 to 2016. Conversely, the total DALY burden rose for most NCDs; however, age-standardised DALY rates due to NCDs declined globally. Interpretation: At a global level, DALYs and HALE continue to show improvements. At the same time, we observe that many populations are facing growing functional health loss. Rising SDI was associated with increases in cumulative years of life lived with disability and decreases in CMNN DALYs ofset by increased NCD DALYs. Relative compression of morbidity highlights the importance of continued health interventions, which has changed in most locations in pace with the gross domestic product per person, education, and family planning. The analysis of DALYs and HALE and their relationship to SDI represents a robust framework with which to benchmark location-specific health performance. Country-specific drivers of disease burden, particularly for causes with higher-than-expected DALYs, should inform health policies, health system improvement initiatives, targeted prevention eforts, and development assistance for health, including fnancial and research investments for all countries, regardless of their level of sociodemographic development. The presence of countries that substantially outperform others suggests the need for increased scrutiny for proven examples of best practices, which can help to extend gains, whereas the presence of underperforming countries suggests the need for devotion of extra attention to health systems that need more robust support. © The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.
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- Clark, DW, et al.
(author)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Journal article (peer-reviewed)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Locke, Adam E, et al.
(author)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Journal article (peer-reviewed)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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- Ried, Janina S., et al.
(author)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Journal article (peer-reviewed)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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- Park, Joochun, et al.
(author)
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Toward the limit of nuclear binding on the N = Z line : Spectroscopy of Cd-96
- 2019
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In: Physical Review C. - : AMER PHYSICAL SOC. - 2469-9985 .- 2469-9993. ; 99:2
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Journal article (peer-reviewed)abstract
- A gamma -decaying isomeric state (tau(1/2) = 197(-17)(+19) ns) has been identified in Cd-96, which is one alpha particle away from the last known bound N = Z nucleus, Sn-100. Comparison of the results with shell-model calculations has allowed a tentative experimental level scheme to be deduced and the isomer to be interpreted as a medium-spin negative-parity spin trap based on the coupling of isoscalar (T = 0) and isovector (T = 1) neutron-proton pairs. The data also suggest evidence for the population of a 9(+) T = 1 state, which is predicted by shell-model calculations to be yrast. Such a low-lying T = 1 state, which is unknown in lighter mass even-even self-conjugate nuclei, can also be interpreted in terms of the coupling of T = 0 and T = 1 neutron-proton pairs.
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- Ralet, D., et al.
(author)
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Lifetime measurement of neutron-rich even-even molybdenum isotopes
- 2017
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In: Physical Review C: covering nuclear physics. - : AMER PHYSICAL SOC. - 2469-9985 .- 2469-9993. ; 95:3
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Journal article (peer-reviewed)abstract
- Background: In the neutron-rich A≈100 mass region, rapid shape changes as a function of nucleon number as well as coexistence of prolate, oblate, and triaxial shapes are predicted by various theoretical models. Lifetime measurements of excited levels in the molybdenum isotopes allow the determination of transitional quadrupole moments, which in turn provides structural information regarding the predicted shape change. Purpose: The present paper reports on the experimental setup, the method that allowed one to measure the lifetimes of excited states in even-even molybdenum isotopes from mass A=100 up to mass A=108, and the results that were obtained. Method: The isotopes of interest were populated by secondary knock-out reaction of neutron-rich nuclei separated and identified by the GSI fragment separator at relativistic beam energies and detected by the sensitive PreSPEC-AGATA experimental setup. The latter included the Lund-York-Cologne calorimeter for identification, tracking, and velocity measurement of ejectiles, and AGATA, an array of position sensitive segmented HPGe detectors, used to determine the interaction positions of the γ ray enabling a precise Doppler correction. The lifetimes were determined with a relativistic version of the Doppler-shift-attenuation method using the systematic shift of the energy after Doppler correction of a γ-ray transition with a known energy. This relativistic Doppler-shift-attenuation method allowed the determination of mean lifetimes from 2 to 250 ps. Results: Even-even molybdenum isotopes from mass A=100 to A=108 were studied. The decays of the low-lying states in the ground-state band were observed. In particular, two mean lifetimes were measured for the first time: τ=29.7-9.1+11.3 ps for the 4+ state of Mo108 and τ=3.2-0.7+0.7 ps for the 6+ state of Mo102. Conclusions: The reduced transition strengths B(E2), calculated from lifetimes measured in this experiment, compared to beyond-mean-field calculations, indicate a gradual shape transition in the chain of molybdenum isotopes when going from A=100 to A=108 with a maximum reached at N=64. The transition probabilities decrease for Mo108 which may be related to its well-pronounced triaxial shape indicated by the calculations.
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