1. |
- Feigin, Valery L., et al.
(författare)
-
Global, regional, and national burden of neurological disorders, 1990–2016 : a systematic analysis for the Global Burden of Disease Study 2016
- 2019
-
Ingår i: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 18:5, s. 459-480
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Neurological disorders are increasingly recognised as major causes of death and disability worldwide. The aim of this analysis from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016 is to provide the most comprehensive and up-to-date estimates of the global, regional, and national burden from neurological disorders.Methods: We estimated prevalence, incidence, deaths, and disability-adjusted life-years (DALYs; the sum of years of life lost [YLLs] and years lived with disability [YLDs]) by age and sex for 15 neurological disorder categories (tetanus, meningitis, encephalitis, stroke, brain and other CNS cancers, traumatic brain injury, spinal cord injury, Alzheimer's disease and other dementias, Parkinson's disease, multiple sclerosis, motor neuron diseases, idiopathic epilepsy, migraine, tension-type headache, and a residual category for other less common neurological disorders) in 195 countries from 1990 to 2016. DisMod-MR 2.1, a Bayesian meta-regression tool, was the main method of estimation of prevalence and incidence, and the Cause of Death Ensemble model (CODEm) was used for mortality estimation. We quantified the contribution of 84 risks and combinations of risk to the disease estimates for the 15 neurological disorder categories using the GBD comparative risk assessment approach.Findings: Globally, in 2016, neurological disorders were the leading cause of DALYs (276 million [95% UI 247–308]) and second leading cause of deaths (9·0 million [8·8–9·4]). The absolute number of deaths and DALYs from all neurological disorders combined increased (deaths by 39% [34–44] and DALYs by 15% [9–21]) whereas their age-standardised rates decreased (deaths by 28% [26–30] and DALYs by 27% [24–31]) between 1990 and 2016. The only neurological disorders that had a decrease in rates and absolute numbers of deaths and DALYs were tetanus, meningitis, and encephalitis. The four largest contributors of neurological DALYs were stroke (42·2% [38·6–46·1]), migraine (16·3% [11·7–20·8]), Alzheimer's and other dementias (10·4% [9·0–12·1]), and meningitis (7·9% [6·6–10·4]). For the combined neurological disorders, age-standardised DALY rates were significantly higher in males than in females (male-to-female ratio 1·12 [1·05–1·20]), but migraine, multiple sclerosis, and tension-type headache were more common and caused more burden in females, with male-to-female ratios of less than 0·7. The 84 risks quantified in GBD explain less than 10% of neurological disorder DALY burdens, except stroke, for which 88·8% (86·5–90·9) of DALYs are attributable to risk factors, and to a lesser extent Alzheimer's disease and other dementias (22·3% [11·8–35·1] of DALYs are risk attributable) and idiopathic epilepsy (14·1% [10·8–17·5] of DALYs are risk attributable).Interpretation: Globally, the burden of neurological disorders, as measured by the absolute number of DALYs, continues to increase. As populations are growing and ageing, and the prevalence of major disabling neurological disorders steeply increases with age, governments will face increasing demand for treatment, rehabilitation, and support services for neurological disorders. The scarcity of established modifiable risks for most of the neurological burden demonstrates that new knowledge is required to develop effective prevention and treatment strategies.Funding: Bill & Melinda Gates Foundation.
|
|
2. |
- Lozano, Rafael, et al.
(författare)
-
Measuring progress from 1990 to 2017 and projecting attainment to 2030 of the health-related Sustainable Development Goals for 195 countries and territories: a systematic analysis for the Global Burden of Disease Study 2017
- 2018
-
Ingår i: The Lancet. - : Elsevier. - 1474-547X .- 0140-6736. ; 392:10159, s. 2091-2138
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Efforts to establish the 2015 baseline and monitor early implementation of the UN Sustainable Development Goals (SDGs) highlight both great potential for and threats to improving health by 2030. To fully deliver on the SDG aim of “leaving no one behind”, it is increasingly important to examine the health-related SDGs beyond national-level estimates. As part of the Global Burden of Diseases, Injuries, and Risk Factors Study 2017 (GBD 2017), we measured progress on 41 of 52 health-related SDG indicators and estimated the health-related SDG index for 195 countries and territories for the period 1990–2017, projected indicators to 2030, and analysed global attainment. Methods: We measured progress on 41 health-related SDG indicators from 1990 to 2017, an increase of four indicators since GBD 2016 (new indicators were health worker density, sexual violence by non-intimate partners, population census status, and prevalence of physical and sexual violence [reported separately]). We also improved the measurement of several previously reported indicators. We constructed national-level estimates and, for a subset of health-related SDGs, examined indicator-level differences by sex and Socio-demographic Index (SDI) quintile. We also did subnational assessments of performance for selected countries. To construct the health-related SDG index, we transformed the value for each indicator on a scale of 0–100, with 0 as the 2·5th percentile and 100 as the 97·5th percentile of 1000 draws calculated from 1990 to 2030, and took the geometric mean of the scaled indicators by target. To generate projections through 2030, we used a forecasting framework that drew estimates from the broader GBD study and used weighted averages of indicator-specific and country-specific annualised rates of change from 1990 to 2017 to inform future estimates. We assessed attainment of indicators with defined targets in two ways: first, using mean values projected for 2030, and then using the probability of attainment in 2030 calculated from 1000 draws. We also did a global attainment analysis of the feasibility of attaining SDG targets on the basis of past trends. Using 2015 global averages of indicators with defined SDG targets, we calculated the global annualised rates of change required from 2015 to 2030 to meet these targets, and then identified in what percentiles the required global annualised rates of change fell in the distribution of country-level rates of change from 1990 to 2015. We took the mean of these global percentile values across indicators and applied the past rate of change at this mean global percentile to all health-related SDG indicators, irrespective of target definition, to estimate the equivalent 2030 global average value and percentage change from 2015 to 2030 for each indicator. Findings: The global median health-related SDG index in 2017 was 59·4 (IQR 35·4–67·3), ranging from a low of 11·6 (95% uncertainty interval 9·6–14·0) to a high of 84·9 (83·1–86·7). SDG index values in countries assessed at the subnational level varied substantially, particularly in China and India, although scores in Japan and the UK were more homogeneous. Indicators also varied by SDI quintile and sex, with males having worse outcomes than females for non-communicable disease (NCD) mortality, alcohol use, and smoking, among others. Most countries were projected to have a higher health-related SDG index in 2030 than in 2017, while country-level probabilities of attainment by 2030 varied widely by indicator. Under-5 mortality, neonatal mortality, maternal mortality ratio, and malaria indicators had the most countries with at least 95% probability of target attainment. Other indicators, including NCD mortality and suicide mortality, had no countries projected to meet corresponding SDG targets on the basis of projected mean values for 2030 but showed some probability of attainment by 2030. For some indicators, including child malnutrition, several infectious diseases, and most violence measures, the annualised rates of change required to meet SDG targets far exceeded the pace of progress achieved by any country in the recent past. We found that applying the mean global annualised rate of change to indicators without defined targets would equate to about 19% and 22% reductions in global smoking and alcohol consumption, respectively; a 47% decline in adolescent birth rates; and a more than 85% increase in health worker density per 1000 population by 2030. Interpretation: The GBD study offers a unique, robust platform for monitoring the health-related SDGs across demographic and geographic dimensions. Our findings underscore the importance of increased collection and analysis of disaggregated data and highlight where more deliberate design or targeting of interventions could accelerate progress in attaining the SDGs. Current projections show that many health-related SDG indicators, NCDs, NCD-related risks, and violence-related indicators will require a concerted shift away from what might have driven past gains—curative interventions in the case of NCDs—towards multisectoral, prevention-oriented policy action and investments to achieve SDG aims. Notably, several targets, if they are to be met by 2030, demand a pace of progress that no country has achieved in the recent past. The future is fundamentally uncertain, and no model can fully predict what breakthroughs or events might alter the course of the SDGs. What is clear is that our actions—or inaction—today will ultimately dictate how close the world, collectively, can get to leaving no one behind by 2030.
|
|
3. |
- Murray, Christopher J. L., et al.
(författare)
-
Population and fertility by age and sex for 195 countries and territories, 1950–2017: a systematic analysis for the Global Burden of Disease Study 2017
- 2018
-
Ingår i: The Lancet. - 1474-547X .- 0140-6736. ; 392:10159, s. 1995-2051
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Population estimates underpin demographic and epidemiological research and are used to track progress on numerous international indicators of health and development. To date, internationally available estimates of population and fertility, although useful, have not been produced with transparent and replicable methods and do not use standardised estimates of mortality. We present single-calendar year and single-year of age estimates of fertility and population by sex with standardised and replicable methods. Methods: We estimated population in 195 locations by single year of age and single calendar year from 1950 to 2017 with standardised and replicable methods. We based the estimates on the demographic balancing equation, with inputs of fertility, mortality, population, and migration data. Fertility data came from 7817 location-years of vital registration data, 429 surveys reporting complete birth histories, and 977 surveys and censuses reporting summary birth histories. We estimated age-specific fertility rates (ASFRs; the annual number of livebirths to women of a specified age group per 1000 women in that age group) by use of spatiotemporal Gaussian process regression and used the ASFRs to estimate total fertility rates (TFRs; the average number of children a woman would bear if she survived through the end of the reproductive age span [age 10–54 years] and experienced at each age a particular set of ASFRs observed in the year of interest). Because of sparse data, fertility at ages 10–14 years and 50–54 years was estimated from data on fertility in women aged 15–19 years and 45–49 years, through use of linear regression. Age-specific mortality data came from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017 estimates. Data on population came from 1257 censuses and 761 population registry location-years and were adjusted for underenumeration and age misreporting with standard demographic methods. Migration was estimated with the GBD Bayesian demographic balancing model, after incorporating information about refugee migration into the model prior. Final population estimates used the cohort-component method of population projection, with inputs of fertility, mortality, and migration data. Population uncertainty was estimated by use of out-of-sample predictive validity testing. With these data, we estimated the trends in population by age and sex and in fertility by age between 1950 and 2017 in 195 countries and territories. Findings: From 1950 to 2017, TFRs decreased by 49·4% (95% uncertainty interval [UI] 46·4–52·0). The TFR decreased from 4·7 livebirths (4·5–4·9) to 2·4 livebirths (2·2–2·5), and the ASFR of mothers aged 10–19 years decreased from 37 livebirths (34–40) to 22 livebirths (19–24) per 1000 women. Despite reductions in the TFR, the global population has been increasing by an average of 83·8 million people per year since 1985. The global population increased by 197·2% (193·3–200·8) since 1950, from 2·6 billion (2·5–2·6) to 7·6 billion (7·4–7·9) people in 2017; much of this increase was in the proportion of the global population in south Asia and sub-Saharan Africa. The global annual rate of population growth increased between 1950 and 1964, when it peaked at 2·0%; this rate then remained nearly constant until 1970 and then decreased to 1·1% in 2017. Population growth rates in the southeast Asia, east Asia, and Oceania GBD super-region decreased from 2·5% in 1963 to 0·7% in 2017, whereas in sub-Saharan Africa, population growth rates were almost at the highest reported levels ever in 2017, when they were at 2·7%. The global average age increased from 26·6 years in 1950 to 32·1 years in 2017, and the proportion of the population that is of working age (age 15–64 years) increased from 59·9% to 65·3%. At the national level, the TFR decreased in all countries and territories between 1950 and 2017; in 2017, TFRs ranged from a low of 1·0 livebirths (95% UI 0·9–1·2) in Cyprus to a high of 7·1 livebirths (6·8–7·4) in Niger. The TFR under age 25 years (TFU25; number of livebirths expected by age 25 years for a hypothetical woman who survived the age group and was exposed to current ASFRs) in 2017 ranged from 0·08 livebirths (0·07–0·09) in South Korea to 2·4 livebirths (2·2–2·6) in Niger, and the TFR over age 30 years (TFO30; number of livebirths expected for a hypothetical woman ageing from 30 to 54 years who survived the age group and was exposed to current ASFRs) ranged from a low of 0·3 livebirths (0·3–0·4) in Puerto Rico to a high of 3·1 livebirths (3·0–3·2) in Niger. TFO30 was higher than TFU25 in 145 countries and territories in 2017. 33 countries had a negative population growth rate from 2010 to 2017, most of which were located in central, eastern, and western Europe, whereas population growth rates of more than 2·0% were seen in 33 of 46 countries in sub-Saharan Africa. In 2017, less than 65% of the national population was of working age in 12 of 34 high-income countries, and less than 50% of the national population was of working age in Mali, Chad, and Niger. Interpretation: Population trends create demographic dividends and headwinds (ie, economic benefits and detriments) that affect national economies and determine national planning needs. Although TFRs are decreasing, the global population continues to grow as mortality declines, with diverse patterns at the national level and across age groups. To our knowledge, this is the first study to provide transparent and replicable estimates of population and fertility, which can be used to inform decision making and to monitor progress. Funding: Bill & Melinda Gates Foundation.
|
|
4. |
|
|
5. |
- Ercan, Ayse Bahar, et al.
(författare)
-
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
- 2024
-
Ingår i: The Lancet Oncology. - 1470-2045. ; 25:5, s. 668-682
-
Tidskriftsartikel (refereegranskat)abstract
- Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries. Clinical data were extracted from the IRRDC database, medical records, and physician-completed case record forms. The primary objective was to describe the clinical features, cancer spectrum, and biology of the condition. Secondary objectives included estimations of cancer incidence and of the impact of the specific mismatch-repair gene and genotype on cancer onset and survival, including after cancer surveillance and immunotherapy interventions.We analysed data from 201 patients (103 males, 98 females) enrolled between June 5, 2007 and Sept 9, 2022. Median age at diagnosis of CMMRD or a related cancer was 8·9 years (IQR 5·9-12·6), and median follow-up from diagnosis was 7·2 years (3·6-14·8). Endogamy among minorities and closed communities contributed to high homozygosity within countries with low consanguinity. Frequent dermatological manifestations (117 [93%] of 126 patients with complete data) led to a clinical overlap with neurofibromatosis type 1 (35 [28%] of 126). 339 cancers were reported in 194 (97%) of 201 patients. The cumulative cancer incidence by age 18 years was 90% (95% CI 80-99). Median time between cancer diagnoses for patients with more than one cancer was 1·9 years (IQR 0·8-3·9). Neoplasms developed in 15 organs and included early-onset adult cancers. CNS tumours were the most frequent (173 [51%] cancers), followed by gastrointestinal (75 [22%]), haematological (61 [18%]), and other cancer types (30 [9%]). Patients with CNS tumours had the poorest overall survival rates (39% [95% CI 30-52] at 10 years from diagnosis; log-rank p<0·0001 across four cancer types), followed by those with haematological cancers (67% [55-82]), gastrointestinal cancers (89% [81-97]), and other solid tumours (96% [88-100]). All cancers showed high mutation and microsatellite indel burdens, and pathognomonic mutational signatures. MLH1 or MSH2 variants caused earlier cancer onset than PMS2 or MSH6 variants, and inferior survival (overall survival at age 15 years 63% [95% CI 55-73] for PMS2, 49% [35-68] for MSH6, 19% [6-66] for MLH1, and 0% for MSH2; p<0·0001). Frameshift or truncating variants within the same gene caused earlier cancers and inferior outcomes compared with missense variants (p<0·0001). The greater deleterious effects of MLH1 and MSH2 variants as compared with PMS2 and MSH6 variants persisted despite overall improvements in survival after surveillance or immune checkpoint inhibitor interventions.The very high cancer burden and unique genomic landscape of CMMRD highlight the benefit of comprehensive assays in timely diagnosis and precision approaches toward surveillance and immunotherapy. These data will guide the clinical management of children and patients who survive into adulthood with CMMRD.The Canadian Institutes for Health Research, Stand Up to Cancer, Children's Oncology Group National Cancer Institute Community Oncology Research Program, Canadian Cancer Society, Brain Canada, The V Foundation for Cancer Research, BioCanRx, Harry and Agnieszka Hall, Meagan's Walk, BRAINchild Canada, The LivWise Foundation, St Baldrick Foundation, Hold'em for Life, and Garron Family Cancer Center.
|
|
6. |
- Stanaway, Jeffrey D., et al.
(författare)
-
Global, regional, and national comparative risk assessment of 84 behavioural, environmental and occupational, and metabolic risks or clusters of risks for 195 countries and territories, 1990-2017: A systematic analysis for the Global Burden of Disease Study 2017
- 2018
-
Ingår i: The Lancet. - 1474-547X .- 0140-6736. ; 392:10159, s. 1923-1994
-
Tidskriftsartikel (refereegranskat)abstract
- Background The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017 comparative risk assessment (CRA) is a comprehensive approach to risk factor quantification that offers a useful tool for synthesising evidence on risks and risk-outcome associations. With each annual GBD study, we update the GBD CRA to incorporate improved methods, new risks and risk-outcome pairs, and new data on risk exposure levels and risk- outcome associations. Methods We used the CRA framework developed for previous iterations of GBD to estimate levels and trends in exposure, attributable deaths, and attributable disability-adjusted life-years (DALYs), by age group, sex, year, and location for 84 behavioural, environmental and occupational, and metabolic risks or groups of risks from 1990 to 2017. This study included 476 risk-outcome pairs that met the GBD study criteria for convincing or probable evidence of causation. We extracted relative risk and exposure estimates from 46 749 randomised controlled trials, cohort studies, household surveys, census data, satellite data, and other sources. We used statistical models to pool data, adjust for bias, and incorporate covariates. Using the counterfactual scenario of theoretical minimum risk exposure level (TMREL), we estimated the portion of deaths and DALYs that could be attributed to a given risk. We explored the relationship between development and risk exposure by modelling the relationship between the Socio-demographic Index (SDI) and risk-weighted exposure prevalence and estimated expected levels of exposure and risk-attributable burden by SDI. Finally, we explored temporal changes in risk-attributable DALYs by decomposing those changes into six main component drivers of change as follows: (1) population growth; (2) changes in population age structures; (3) changes in exposure to environmental and occupational risks; (4) changes in exposure to behavioural risks; (5) changes in exposure to metabolic risks; and (6) changes due to all other factors, approximated as the risk-deleted death and DALY rates, where the risk-deleted rate is the rate that would be observed had we reduced the exposure levels to the TMREL for all risk factors included in GBD 2017.
|
|
7. |
- Niemi, MEK, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
8. |
- Kanai, M, et al.
(författare)
-
- 2023
-
swepub:Mat__t
|
|
9. |
- Abelev, B., et al.
(författare)
-
Charged jet cross sections and properties in proton-proton collisions at root s=7 TeV
- 2015
-
Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - 1550-2368. ; 91:11
-
Tidskriftsartikel (refereegranskat)abstract
- The differential charged jet cross sections, jet fragmentation distributions, and jet shapes are measured in minimum bias proton-proton collisions at center-of-mass energy root s = 7 TeV using the ALICE detector at the LHC. Jets are reconstructed from charged particle momenta in the midrapidity region using the sequential recombination k(T) and anti-k(T) as well as the SISCone jet finding algorithms with several resolution parameters in the range R = 0.2-0.6. Differential jet production cross sections measured with the three jet finders are in agreement in the transverse momentum (p(T)) interval 20 < p(T)(jet,ch) < 100 GeV/c. They are also consistent with prior measurements carried out at the LHC by the ATLAS Collaboration. The jet charged particle multiplicity rises monotonically with increasing jet p(T), in qualitative agreement with prior observations at lower energies. The transverse profiles of leading jets are investigated using radial momentum density distributions as well as distributions of the average radius containing 80% (< R-80 >) of the reconstructed jet p(T). The fragmentation of leading jets with R = 0.4 using scaled p(T) spectra of the jet constituents is studied. The measurements are compared to model calculations from event generators (PYTHIA, PHOJET, HERWIG). The measured radial density distributions and < R-80 > distributions are well described by the PYTHIA model (tune Perugia-2011). The fragmentation distributions are better described by HERWIG.
|
|
10. |
- Abelev, B., et al.
(författare)
-
Event-by-event mean p(T) fluctuations in pp and Pb-Pb collisions at the LHC
- 2014
-
Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 74:10
-
Tidskriftsartikel (refereegranskat)abstract
- Event-by-event fluctuations of the mean transverse momentum of charged particles produced in pp collisions at root s = 0.9, 2.76 and 7 TeV, and Pb-Pb collisions at root S-NN = 2.76 TeV are studied as a function of the charged-particle multiplicity using the ALICE detector at the LHC. Dynamical fluctuations indicative of correlated particle emission are observed in all systems. The results in pp collisions show little dependence on collision energy. The Monte Carlo event generators PYTHIA and PHOJET are in qualitative agreement with the data. Peripheral Pb-Pb data exhibit a similar-multiplicity dependence as that observed in pp. In central Pb-Pb, the results deviate from this trend, featuring a significant reduction of the fluctuation strength. The results in Pb-Pb are in qualitative agreement with previous measurements in Au-Au at lower collision energies and with expectations from models that incorporate collective phenomena.
|
|
11. |
- Abelev, B., et al.
(författare)
-
Inclusive photon production at forward rapidities in proton-proton collisions at root s=0.9, 2.76 and 7 TeV
- 2015
-
Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:4
-
Tidskriftsartikel (refereegranskat)abstract
- The multiplicity and pseudorapidity distributions of inclusive photons have been measured at forward rapidities (2.3 < eta < 3.9) in proton-proton collisions at three center-of-mass energies, root s = 0.9, 2.76 and 7 TeV using the ALICE detector. It is observed that the increase in the average photon multiplicity as a function of beam energy is compatible with both a logarithmic and a power-law dependence. The relative increase in average photon multiplicity produced in inelastic pp collisions at 2.76 and 7 TeV center-of-mass energies with respect to 0.9 TeV are 37.2 +/- 0.3% (stat) +/- 8.8% (sys) and 61.2 +/- 0.3% (stat) +/- 7.6% (sys), respectively. The photon multiplicity distributions for all center-of-mass energies are well described by negative binomial distributions. The multiplicity distributions are also presented in terms of KNO variables. The results are compared to model predictions, which are found in general to underestimate the data at large photon multiplicities, in particular at the highest center-of-mass energy. Limiting fragmentation behavior of photons has been explored with the data, but is not observed in the measured pseudorapidity range.
|
|
12. |
- Abelev, B., et al.
(författare)
-
Production of inclusive gamma(1S) and gamma(2S) in p-Pb collisions at, root S-NN=5.02 TeV
- 2015
-
Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 740, s. 105-117
-
Tidskriftsartikel (refereegranskat)abstract
- We report on the production of inclusive gamma(1S) and gamma(2S) in p-Pb collisions at root S-NN = 5.02 TeV at the LHC. The measurement is performed with the ALICE detector at backward (-4.46 < ycms < 2.96) and forward (2.03 < ycms <3.53) rapidity down to zero transverse momentum. The production cross sections of the gamma(1S) and gamma(2S) are presented, as well as the nuclear modification factor and the ratio of the forward to backward yields of gamma(1S). A suppression of the inclusive gamma(1S) yield in p-Pb collisions with respect to the yield from pp collisions scaled by the number of binary nucleon-nucleon collisions is observed at forward rapidity but not at backward rapidity. The results are compared to theoretical model calculations including nuclear shadowing or partonic energy loss effects. (C) 2014 The Authors. Published by Elsevier B.V.
|
|
13. |
- Abelev, B., et al.
(författare)
-
Production of Sigma (1385)(+/-) and Xi (1530)(0) in proton-proton collisions at root s=7 TeV
- 2015
-
Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:1
-
Tidskriftsartikel (refereegranskat)abstract
- The production of the strange and double-strange baryon resonances (Sigma (1385)(+/-), Xi (1530)(0)) has been measured at mid-rapidity (vertical bar y vertical bar < 0.5) in proton-proton collisions at root s = 7 TeV with the ALICE detector at the LHC. Transverse momentum spectra for inelastic collisions are compared to QCD-inspired models, which in general underpredict the data. A search for the phi (1860) pentaquark, decaying in the Xi pi channel, has been carried out but no evidence is seen.
|
|
14. |
- Afroz, Laila, et al.
(författare)
-
Nanocomposite Catalyst (1 – x)NiO-xCuO/yGDC for Biogas Fueled Solid Oxide Fuel Cells
- 2023
-
Ingår i: ACS Applied Energy Materials. - : American Chemical Society (ACS). - 2574-0962. ; 6:21, s. 10918-10928
-
Tidskriftsartikel (refereegranskat)abstract
- The composites of Ni–Cu oxides with gadolinium doped ceria (GDC) are emerging as highly proficient anode catalysts, owing to their remarkable performance for solid oxide fuel cells operated with biogas. In this context, the nanocomposite catalysts (1 – x)NiO-xCuO/yGDC (x = 0.2–0.8; y = 1,1.3) are synthesized using a solid-state reaction route. The cubic and monoclinic structures are observed for NiO and CuO phases, respectively, while CeO2 showed cubic fluorite structure. The scanning electron microscopic images revealed a rise in the particle size with an increase in the copper and GDC concentration. The optical band gap values are calculated in the range 2.82–2.33 eV from UV–visible analysis. The Raman spectra confirmed the presence of vibration modes of CeO2 and NiO. The electrical conductivity of the nanocomposite anodes is increased as the concentration of copper and GDC increased and reached at 9.48 S cm–1 for 0.2NiO-0.8CuO/1.3GDC composition at 650 °C. The electrochemical performance of (1 – x)NiO-xCuO/yGDC (x = 0.2–0.8; y = 1,1.3)-based fuel cells is investigated with biogas fuel at 650 °C. Among all of the as-synthesized anodes, the fuel cell with composition 0.2NiO-0.8CuO/1.3GDC showed the best performance, such as an open circuit voltage of 0.84 V and peak power density of 72 mW cm–2. However, from these findings, it can be inferred that among all other compositions, the 0.2NiO-0.8CuO/1.3GDC anode is a superior combination for the high electrochemical performance of solid oxide fuel cells fueled with biogas.
|
|
15. |
- Ahmad, Tariq, et al.
(författare)
-
Machine Learning Methods Improve Prognostication, Identify Clinically Distinct Phenotypes, and Detect Heterogeneity in Response to Therapy in a Large Cohort of Heart Failure Patients
- 2018
-
Ingår i: Journal of the American Heart Association. - : WILEY. - 2047-9980. ; 7:8
-
Tidskriftsartikel (refereegranskat)abstract
- Background-Whereas heart failure (HF) is a complex clinical syndrome, conventional approaches to its management have treated it as a singular disease, leading to inadequate patient care and inefficient clinical trials. We hypothesized that applying advanced analytics to a large cohort of HF patients would improve prognostication of outcomes, identify distinct patient phenotypes, and detect heterogeneity in treatment response. Methods and Results-The Swedish Heart Failure Registry is a nationwide registry collecting detailed demographic, clinical, laboratory, and medication data and linked to databases with outcome information. We applied random forest modeling to identify predictors of 1-year survival. Cluster analysis was performed and validated using serial bootstrapping. Association between clusters and survival was assessed with Cox proportional hazards modeling and interaction testing was performed to assess for heterogeneity in response to HF pharmacotherapy across propensity-matched clusters. Our study included 44 886 HF patients enrolled in the Swedish Heart Failure Registry between 2000 and 2012. Random forest modeling demonstrated excellent calibration and discrimination for survival (C-statistic=0.83) whereas left ventricular ejection fraction did not (C-statistic=0.52): there were no meaningful differences per strata of left ventricular ejection fraction (1-year survival: 80%, 81%, 83%, and 84%). Cluster analysis using the 8 highest predictive variables identified 4 clinically relevant subgroups of HF with marked differences in 1-year survival. There were significant interactions between propensity-matched clusters (across age, sex, and left ventricular ejection fraction and the following medications: diuretics, angiotensin-converting enzyme inhibitors, )i-blockers, and nitrates, Pamp;lt;0.001, all). Conclusions-Machine learning algorithms accurately predicted outcomes in a large data set of HF patients. Cluster analysis identified 4 distinct phenotypes that differed significantly in outcomes and in response to therapeutics. Use of these novel analytic approaches has the potential to enhance effectiveness of current therapies and transform future HF clinical trials.
|
|
16. |
- Ahmad, Waqas, et al.
(författare)
-
Computationally Efficient Light Field Image Compression Using a Multiview HEVC Framework
- 2019
-
Ingår i: IEEE Access. - 2169-3536. ; 7, s. 143002-143014
-
Tidskriftsartikel (refereegranskat)abstract
- The acquisition of the spatial and angular information of a scene using light eld (LF) technologies supplement a wide range of post-processing applications, such as scene reconstruction, refocusing, virtual view synthesis, and so forth. The additional angular information possessed by LF data increases the size of the overall data captured while offering the same spatial resolution. The main contributor to the size of captured data (i.e., angular information) contains a high correlation that is exploited by state-of-the-art video encoders by treating the LF as a pseudo video sequence (PVS). The interpretation of LF as a single PVS restricts the encoding scheme to only utilize a single-dimensional angular correlation present in the LF data. In this paper, we present an LF compression framework that efciently exploits the spatial and angular correlation using a multiview extension of high-efciency video coding (MV-HEVC). The input LF views are converted into multiple PVSs and are organized hierarchically. The rate-allocation scheme takes into account the assigned organization of frames and distributes quality/bits among them accordingly. Subsequently, the reference picture selection scheme prioritizes the reference frames based on the assigned quality. The proposed compression scheme is evaluated by following the common test conditions set by JPEG Pleno. The proposed scheme performs 0.75 dB better compared to state-of-the-art compression schemes and 2.5 dB better compared to the x265-based JPEG Pleno anchor scheme. Moreover, an optimized motionsearch scheme is proposed in the framework that reduces the computational complexity (in terms of the sum of absolute difference [SAD] computations) of motion estimation by up to 87% with a negligible loss in visual quality (approximately 0.05 dB).
|
|
17. |
- Ahmed Waqas, Hafiz, et al.
(författare)
-
Performance Prediction of Hybrid Bamboo-Reinforced Concrete Beams Using Gene Expression Programming for Sustainable Construction
- 2023
-
Ingår i: Materials. - : MDPI. - 1996-1944. ; 16:20
-
Tidskriftsartikel (refereegranskat)abstract
- The building and construction industry’s demand for steel reinforcement bars has increased with the rapid growth and development in the world. However, steel production contributes to harmful waste and emissions that cause environmental pollution and climate change-related problems. In light of sustainable construction practices, bamboo, a readily accessible and ecofriendly building material, is suggested as a viable replacement for steel rebars. Its cost-effectiveness, environmental sustainability, and considerable tensile strength make it a promising option. In this research, hybrid beams underwent analysis through the use of thoroughly validated finite element models (FEMs), wherein the replacement of steel rebars with bamboo was explored as an alternative reinforcement material. The standard-size beams were subjected to three-point loading using FEMs to study parameters such as the load–deflection response, energy absorption, maximum capacity, and failure patterns. Then, gene expression programming was integrated to aid in developing a more straightforward equation for predicting the flexural strength of bamboo-reinforced concrete beams. The results of this study support the conclusion that the replacement of a portion of flexural steel with bamboo in reinforced concrete beams does not have a detrimental impact on the overall load-bearing capacity and energy absorption of the structure. Furthermore, it may offer a cost-effective and feasible alternative.
|
|
18. |
- Arslan, Muhammad, et al.
(författare)
-
Impact of Varying Load Conditions and Cooling Energy Comparison of a Double-Inlet Pulse Tube Refrigerator
- 2020
-
Ingår i: Processes. - : MDPI. - 2227-9717. ; 8:3
-
Tidskriftsartikel (refereegranskat)abstract
- Modeling and optimization of a double-inlet pulse tube refrigerator (DIPTR) is very difficult due to its geometry and nature. The objective of this paper was to optimize-DIPTR through experiments with the cold heat exchanger (CHX) along the comparison of cooling load with experimental data using different boundary conditions. To predict its performance, a detailed two-dimensional DIPTR model was developed. A double-drop pulse pipe cooler was used for solving continuity, dynamic and power calculations. External conditions for applicable boundaries include sinusoidal pressure from an end of the tube from a user-defined function and constant temperature or limitations of thermal flux within the outer walls of exchanger walls under colder conditions. The results of the system's cooling behavior were reported, along with the connection between the mass flow rates, heat distribution along pulse tube and cold-end pressure, the cooler load's wall temp profile and cooler loads with varied boundary conditions i.e. opening of 20% double-inlet and 40-60% orifice valves, respectively. Different loading conditions of 1 and 5W were applied on the CHX. At 150 K temperature of the cold-end heat exchanger, a maximum load of 3.7 W was achieved. The results also reveal a strong correlation between computational fluid dynamics modeling results and experimental results of the DIPTR.
|
|
19. |
- Asif, Muhammad, et al.
(författare)
-
Comprehensive genomic analysis of Bacillus paralicheniformis strain BP9, pan-genomic and genetic basis of biocontrol mechanism
- 2023
-
Ingår i: Computational and Structural Biotechnology Journal. - : Elsevier B.V.. - 2001-0370. ; 21, s. 4647-4662
-
Tidskriftsartikel (refereegranskat)abstract
- Many Bacillus species are essential antibacterial agents, but their antibiosis potential still needs to be elucidated to its full extent. Here, we isolated a soil bacterium, BP9, which has significant antibiosis activity against fungal and bacterial pathogens. BP9 improved the growth of wheat seedlings via active colonization and demonstrated effective biofilm and swarming activity. BP9 sequenced genome contains 4282 genes with a mean G-C content of 45.94% of the whole genome. A single copy concatenated 802 core genes of 28 genomes, and their calculated average nucleotide identity (ANI) discriminated the strain BP9 from Bacillus licheniformis and classified it as Bacillus paralicheniformis. Furthermore, a comparative pan-genome analysis of 40 B. paralicheniformis strains suggested that the genetic repertoire of BP9 belongs to open-type genome species. A comparative analysis of a pan-genome dataset using the Kyoto Encyclopedia of Genes and Genomes (KEGG) and Cluster of Orthologous Gene groups (COG) revealed the diversity of secondary metabolic pathways, where BP9 distinguishes itself by exhibiting a greater prevalence of loci associated with the metabolism and transportation of organic and inorganic substances, carbohydrate and amino acid for effective inhabitation in diverse environments. The primary secondary metabolites and their genes involved in synthesizing bacillibactin, fencing, bacitracin, and lantibiotics were identified as acquired through a recent Horizontal gene transfer (HGT) event, which contributes to a significant part of the strain`s antimicrobial potential. Finally, we report some genes essential for plant-host interaction identified in BP9, which reduce spore germination and virulence of multiple fungal and bacterial species. The effective colonization, diverse predicted metabolic pathways and secondary metabolites (antibiotics) suggest testing the suitability of strain BP9 as a potential bio-preparation in agricultural fields.
|
|
20. |
- Aziz, Maria, et al.
(författare)
-
Efficient Removal of Lead and Chromium From Aqueous Media Using Selenium Based Nanocomposite Supported by Orange Peel
- 2022
-
Ingår i: Frontiers in Environmental Science. - : Frontiers Media S.A.. - 2296-665X. ; 10
-
Tidskriftsartikel (refereegranskat)abstract
- This study presents the synthesis of activated orange peel, derived from bio-waste (orange peel) and its doping with selenium nano-particles to enhance the adsorption capacity. The synthesized nanocomposite orange peel/Selenium (OP/Se) was applied as adsorbents for the removal of Lead (Pb) and Chromium (Cr) from synthetic waste water as an economical water cleaning technology. Orange peel/Selenium nanocomposite was characterized by X-Ray diffraction (XRD), Fourier transform infrared spectroscopy (FT-IR) and Scanning electron microscopy (SEM). Scanning electron microscopy results showed the porous structure of OP/Se nanocomposite and distinct peaks observed in XRD and FTIR spectra depicted the successful synthesis of nanocomposite. Batch experiments were conducted to figure out the effect of different parameters on adsorption of Pb and Cr by using Atomic Absorption Spectroscopy. The maximum adsorption capacity of 99.9% was achieved for both lead and chromium at acidic pH. While at temperature of 60°C the maximum adsorption of 98.3 and 95.9% was found for Pb and Cr respectively. Furthermore the experimental data was examined with Pseudo-first order, first-order and Pseudo-second order kinetic model, as well as Morris Intraparticle diffusion model where the pseudo second order was best fitted which indicated the chemisorption mechanism in adsorption process. The adsorption process followed the Langmuir isotherm model verified that OP/Se nanocomposite was found to be favorable for the process of adsorption. The adsorption thermodynamics indicate that adsorption of heavy metals ions is spontaneous (ΔG° < 0) and the adsorption increases with increase in temperature which means that reaction was endothermic in nature. This study revealed that the synthesized bio-activated nanocomposite was an efficient adsorbent material for the removal of heavy metals from waste water.
|
|
21. |
- Cleynen, Isabelle, et al.
(författare)
-
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes : a genetic association study
- 2016
-
Ingår i: The Lancet. - New York, USA : Elsevier. - 0140-6736 .- 1474-547X. ; 387:10014, s. 156-167
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases.Methods This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34,819 patients (19,713 with Crohn's disease, 14,683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype-phenotype associations across 156,154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile.Findings: After quality control, the primary analysis included 29,838 patients (16,902 with Crohn's disease, 12,597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for inflammatory bowel disease showed strong association with disease subphenotype (p=1·65 × 10(-78)), even after exclusion of NOD2, MHC, and 3p21 (p=9·23 × 10(-18)). Predictive models based on the genetic risk score strongly distinguished colonic from ileal Crohn's disease. Our genetic risk score could also identify a small number of patients with discrepant genetic risk profiles who were significantly more likely to have a revised diagnosis after follow-up (p=6·8 × 10(-4)).Interpretation: Our data support a continuum of disorders within inflammatory bowel disease, much better explained by three groups (ileal Crohn's disease, colonic Crohn's disease, and ulcerative colitis) than by Crohn's disease and ulcerative colitis as currently defined. Disease location is an intrinsic aspect of a patient's disease, in part genetically determined, and the major driver to changes in disease behaviour over time.Funding: International Inflammatory Bowel Disease Genetics Consortium members funding sources (see Acknowledgments for full list).
|
|
22. |
- Craddock, Nick, et al.
(författare)
-
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
-
Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
|
|
23. |
- Fatima, Iza, et al.
(författare)
-
Individual and synergistic effects of different fertilizers and gibberellin on growth and morphology of chili seedlings
- 2024
-
Ingår i: Ecological Frontiers. - 1872-2032. ; 44:2, s. 275-281
-
Tidskriftsartikel (refereegranskat)abstract
- Gibberellins (GA3), as well as the basic elements phosphorus (P), nitrogen (N), and potassium (K), are crucial to the growth of chili. This study investigates the effect of different fertilizers and plant growth regulator on the growth and morphology of chili seedlings. Soil application of NPK, urea, SOP, and DAP (2.5 g/L) was applied during sowing, and N in two splits at sowing and after twenty days of sowing while foliar application of GA3 (50 mg/L) was applied after fifteen days of germination. The result of five seedlings' traits plant height (PH), plant girth (PG), plant spread (PS), number of leaves (NOF), and root length (RL) demonstrated a significant difference among growth-related traits in chili seedlings owing to the use of fertilizers, GA3, and their combinations. An optimum level of K and P alone or in combination with GA3 had a significant effect on all traits. PH was particularly influenced by the combination of GA3 with K and P whereas other traits like PG, NOF, PS, and RL are greatly influenced by the application of NPK, urea, SOP, DAP, and their combination with GA3. The study results showed an increase in chili seedlings' growth and morphology in response to various fertilizers and GA3.
|
|
24. |
- Franke, Andre, et al.
(författare)
-
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
- 2010
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1118-1125
-
Tidskriftsartikel (refereegranskat)abstract
- We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 × 10⁻⁸). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease.
|
|
25. |
- Ghafoor, Mubeen, et al.
(författare)
-
Perceptually Lossless Surgical Telementoring System Based on Non-Parametric Segmentation
- 2019
-
Ingår i: Journal of Medical Imaging and Health Informatics. - : American Scientific Publishers. - 2156-7018 .- 2156-7026. ; 9:3, s. 464-473
-
Tidskriftsartikel (refereegranskat)abstract
- Bandwidth constraint is one of the significant concerns of surgical telementoring, especially in rural areas. High-Efficiency Video Coding (H.265/HEVC) based video compression techniques have shown promising results for telementoring applications. However, there is a tradeoff between the quality of video received by the remote surgeon and the bandwidth resources required for video transmission. In order to efficiently compress and transmit real-time surgical videos, a hybrid lossless-lossy approach is proposed where surgical incision region (location of surgery) is coded in high quality while the background (non-incision) region is coded in medium to low quality depending on the nature of the region. The surgical incision region is detected based on an efficient color and location-based non-parametric segmentation approach. This approach takes explicitly into account the physiological nature of the human visual system and efficiently encodes the video by providing good overall visual impact in the location of surgery. The results of the proposed approach are shown in terms of video quality metrics such as Bjontegaard delta bitrate (BD-BR), Bjontegaard delta peak signal-to-noise ratio (BD-PSNR), and structural similarity index measurement (SSIM). Experimental results showed that in comparison with default full-frame HEVC encoding, the proposed surgical incision region based encoding achieved an average BD-BR reduction of 77.5% at high-quality settings (QP in range of 0 to 20 in surgical incision region and an increasing QP in skin and background region). The average gain in BD-PSNR of the proposed algorithm was 6.99 dB in surgical incision region at high-quality setting, and the average SSIM index came out to be 0.9926 which is only 0.006% less than the default full-frame HEVC coding. Based on these results, the proposed encoding algorithm can be considered as an efficient and effective solution for surgical telementoring systems for limited bandwidth networks.
|
|
26. |
- Hassan, A., et al.
(författare)
-
High Efficiency Video Coding (HEVC)–Based Surgical Telementoring System Using Shallow Convolutional Neural Network
- 2019
-
Ingår i: Journal of digital imaging. - : Springer Science and Business Media LLC. - 0897-1889 .- 1618-727X. ; 32:6, s. 1027-1043
-
Tidskriftsartikel (refereegranskat)abstract
- Surgical telementoring systems have gained lots of interest, especially in remote locations. However, bandwidth constraint has been the primary bottleneck for efficient telementoring systems. This study aims to establish an efficient surgical telementoring system, where the qualified surgeon (mentor) provides real-time guidance and technical assistance for surgical procedures to the on-spot physician (surgeon). High Efficiency Video Coding (HEVC/H.265)–based video compression has shown promising results for telementoring applications. However, there is a trade-off between the bandwidth resources required for video transmission and quality of video received by the remote surgeon. In order to efficiently compress and transmit real-time surgical videos, a hybrid lossless-lossy approach is proposed where surgical incision region is coded in high quality whereas the background region is coded in low quality based on distance from the surgical incision region. For surgical incision region extraction, state-of-the-art deep learning (DL) architectures for semantic segmentation can be used. However, the computational complexity of these architectures is high resulting in large training and inference times. For telementoring systems, encoding time is crucial; therefore, very deep architectures are not suitable for surgical incision extraction. In this study, we propose a shallow convolutional neural network (S-CNN)–based segmentation approach that consists of encoder network only for surgical region extraction. The segmentation performance of S-CNN is compared with one of the state-of-the-art image segmentation networks (SegNet), and results demonstrate the effectiveness of the proposed network. The proposed telementoring system is efficient and explicitly considers the physiological nature of the human visual system to encode the video by providing good overall visual impact in the location of surgery. The results of the proposed S-CNN-based segmentation demonstrated a pixel accuracy of 97% and a mean intersection over union accuracy of 79%. Similarly, HEVC experimental results showed that the proposed surgical region–based encoding scheme achieved an average bitrate reduction of 88.8% at high-quality settings in comparison with default full-frame HEVC encoding. The average gain in encoding performance (signal-to-noise) of the proposed algorithm is 11.5 dB in the surgical region. The bitrate saving and visual quality of the proposed optimal bit allocation scheme are compared with the mean shift segmentation–based coding scheme for fair comparison. The results show that the proposed scheme maintains high visual quality in surgical incision region along with achieving good bitrate saving. Based on comparison and results, the proposed encoding algorithm can be considered as an efficient and effective solution for surgical telementoring systems for low-bandwidth networks.
|
|
27. |
- Heap, Graham A., et al.
(författare)
-
Clinical Features and HLA Association of 5-Aminosalicylate (5-ASA)-induced Nephrotoxicity in Inflammatory Bowel Disease
- 2016
-
Ingår i: Journal of Crohn's & Colitis. - : Oxford University Press. - 1873-9946 .- 1876-4479. ; 10:2, s. 149-158
-
Tidskriftsartikel (refereegranskat)abstract
- Background and Aims: Nephrotoxicity is a rare idiosyncratic reaction to 5-aminosalicylate (5-ASA) therapies. The aims of this study were to describe the clinical features of this complication and identify clinically useful genetic markers so that these drugs can be avoided or so that monitoring can be intensified in high-risk patients.Methods: Inflammatory bowel disease patients were recruited from 89 sites around the world. Inclusion criteria included normal renal function prior to commencing 5-ASA, >= 50% rise in creatinine any time after starting 5-ASA, and physician opinion implicating 5-ASA strong enough to justify drug withdrawal. An adjudication panel identified definite and probable cases from structured case report forms. A genome-wide association study was then undertaken with these cases and 4109 disease controls.Results: After adjudication, 151 cases of 5-ASA-induced nephrotoxicity were identified. Sixty-eight percent of cases were males, with nephrotoxicity occurring at a median age of 39.4 years (range 6-79 years). The median time for development of renal injury after commencing 5-ASA was 3.0 years (95% confidence interval [CI] 2.3-3.7). Only 30% of cases recovered completely after drug withdrawal, with 15 patients requiring permanent renal replacement therapy. A genome-wide association study identified a suggestive association in the HLA region (p = 1 x 10(-7)) with 5-ASA-induced nephrotoxicity. A sub-group analysis of patients who had a renal biopsy demonstrating interstitial nephritis (n = 55) significantly strengthened this association (p = 4 x 10(-9), odds ratio 3.1).Conclusions: This is the largest and most detailed study of 5-ASA-induced nephrotoxicity to date. It highlights the morbidity associated with this condition and identifies for the first time a significant genetic predisposition to drug-induced renal injury.
|
|
28. |
- Heap, Graham A., et al.
(författare)
-
HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants
- 2014
-
Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:10, s. 1131-1134
-
Tidskriftsartikel (refereegranskat)abstract
- Pancreatitis occurs in approximately 4% of patients treated with the thiopurines azathioprine or mercaptopurine. Its development is unpredictable and almost always leads to drug withdrawal. We identified patients with inflammatory bowel disease (IBD) who had developed pancreatitis within 3 months of starting these drugs from 168 sites around the world. After detailed case adjudication, we performed a genome-wide association study on 172 cases and 2,035 controls with IBD. We identified strong evidence of association within the class II HLA region, with the most significant association identified at rs2647087 (odds ratio 2.59, 95% confidence interval 2.07-3.26, P = 2 x 10(-16)). We replicated these findings in an independent set of 78 cases and 472 controls with IBD matched for drug exposure. Fine mapping of the H LA region identified association with the HLA-DQA1*02:01-HLA-DRB1*07:01 haplotype. Patients heterozygous at rs2647087 have a 9% risk of developing pancreatitis after administration of a thiopurine, whereas homozygotes have a 17% risk.
|
|
29. |
|
|
30. |
- Kilpeläinen, Tuomas O, et al.
(författare)
-
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.
- 2011
-
Ingår i: PLoS medicine. - : Public Library of Science (PLoS). - 1549-1676 .- 1549-1277. ; 8:11
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA) may attenuate the effect of FTO on obesity risk, other studies have not been able to confirm this interaction. To confirm or refute unambiguously whether PA attenuates the association of FTO with obesity risk, we meta-analyzed data from 45 studies of adults (n=218,166) and nine studies of children and adolescents (n=19,268). METHODS AND FINDINGS: All studies identified to have data on the FTO rs9939609 variant (or any proxy [r(2)>0.8]) and PA were invited to participate, regardless of ethnicity or age of the participants. PA was standardized by categorizing it into a dichotomous variable (physically inactive versus active) in each study. Overall, 25% of adults and 13% of children were categorized as inactive. Interaction analyses were performed within each study by including the FTO×PA interaction term in an additive model, adjusting for age and sex. Subsequently, random effects meta-analysis was used to pool the interaction terms. In adults, the minor (A-) allele of rs9939609 increased the odds of obesity by 1.23-fold/allele (95% CI 1.20-1.26), but PA attenuated this effect (p(interaction) =0.001). More specifically, the minor allele of rs9939609 increased the odds of obesity less in the physically active group (odds ratio =1.22/allele, 95% CI 1.19-1.25) than in the inactive group (odds ratio =1.30/allele, 95% CI 1.24-1.36). No such interaction was found in children and adolescents. CONCLUSIONS: The association of the FTO risk allele with the odds of obesity is attenuated by 27% in physically active adults, highlighting the importance of PA in particular in those genetically predisposed to obesity.
|
|
31. |
- Naqvi, Salman Raza, et al.
(författare)
-
Pyrolysis of high ash sewage sludge : Kinetics and thermodynamic analysis using Coats-Redfern method
- 2019
-
Ingår i: Renewable energy. - : Elsevier Ltd. - 0960-1481 .- 1879-0682. ; 131, s. 854-860
-
Tidskriftsartikel (refereegranskat)abstract
- This study aims to investigate the thermo-kinetics of high-ash sewage sludge using thermogravimetric analysis. Sewage sludge was dried, pulverized and heated non-isothermally from 25 to 800 °C at different heating rates (5, 10 and 20 °C/min) in N2 atmosphere. TG and DTG results indicate that the sewage sludge pyrolysis may be divided into three stages. Coats-Redfern integral method was applied in the 2nd and 3rd stage to estimate the activation energy and pre-exponential factor from mass loss data using five major reaction mechanisms. The low-temperature stable components (LTSC) of the sewage sludge degraded in the temperature regime of 250–450 °C while high-temperature stable components (HTSC) decomposed in the temperature range of 450–700 °C. According to the results, first-order reaction model (F1) showed higher Ea with better R2 for all heating rates. D3, N1, and S1 produced higher Ea at higher heating rates for LTSC pyrolysis and lower Ea with the increase of heating rates for HTSC pyrolysis. All models showed positive ΔH except F1.5. Among all models, Diffusion (D1, D2, D3) and phase interfacial models (S1, S2) showed higher ΔG as compared to reaction, nucleation, and power-law models in section I and section II.
|
|
32. |
- Nawaz, Sadia, et al.
(författare)
-
Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12
- 2012
-
Ingår i: EJD. European journal of dermatology. - : John Libbey Eurotext. - 1167-1122 .- 1952-4013. ; 22:2, s. 178-181
-
Tidskriftsartikel (refereegranskat)abstract
- A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We have identified a large consanguineous Pakistani family affected by NCIE. Autozygosity mapping showed that affected individuals are homozygous for the ABCA12 gene region. Subsequent mutation screening revealed a homozygous c.4676G>T transition in all five affected family members. The mutation results in a novel p.G1559V substitution within the first nucleotide binding domain of ABCA12. The combined results support that an ABCA12 missense mutation, despite its location in a functional domain, may be associated with a mild ichthyosis phenotype. Furthermore, our findings increase the mutational spectrum in ABCA12 associated with ARCI of diagnostic and prognostic importance.
|
|
33. |
- Nawaz, Sadia, et al.
(författare)
-
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
- 2011
-
Ingår i: Pakistan journal of medical sciences print. - 1682-024X .- 1681-715X. ; 27:3, s. 686-689
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mat de Meleda (MDM) or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Methodology: Single nucleotide polymorphism (SNPs) genotyping was performed using the Gene Chip Mapping 250K array (Affymetrix). Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel pOlymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fast link computer package. All three coding exons of ARS (component B) gene were amplified by PCR and sequenced. Conclusion: Sequencing of all the coding exons of ARS (component B) gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine (256G>A) and as a result the amino acid Glycine is replaced by Arginine at position 86 (G86R). This finding will facilitate control of affected MDM births in the Pakistani families.
|
|
34. |
- Nguyen, Thanh N, et al.
(författare)
-
Global Impact of the COVID-19 Pandemic on Stroke Volumes and Cerebrovascular Events: A 1-Year Follow-up.
- 2023
-
Ingår i: Neurology. - 1526-632X. ; 100:4
-
Tidskriftsartikel (refereegranskat)abstract
- Declines in stroke admission, IV thrombolysis (IVT), and mechanical thrombectomy volumes were reported during the first wave of the COVID-19 pandemic. There is a paucity of data on the longer-term effect of the pandemic on stroke volumes over the course of a year and through the second wave of the pandemic. We sought to measure the effect of the COVID-19 pandemic on the volumes of stroke admissions, intracranial hemorrhage (ICH), IVT, and mechanical thrombectomy over a 1-year period at the onset of the pandemic (March 1, 2020, to February 28, 2021) compared with the immediately preceding year (March 1, 2019, to February 29, 2020).We conducted a longitudinal retrospective study across 6 continents, 56 countries, and 275 stroke centers. We collected volume data for COVID-19 admissions and 4 stroke metrics: ischemic stroke admissions, ICH admissions, IVT treatments, and mechanical thrombectomy procedures. Diagnoses were identified by their ICD-10 codes or classifications in stroke databases.There were 148,895 stroke admissions in the 1 year immediately before compared with 138,453 admissions during the 1-year pandemic, representing a 7% decline (95% CI [95% CI 7.1-6.9]; p < 0.0001). ICH volumes declined from 29,585 to 28,156 (4.8% [5.1-4.6]; p < 0.0001) and IVT volume from 24,584 to 23,077 (6.1% [6.4-5.8]; p < 0.0001). Larger declines were observed at high-volume compared with low-volume centers (all p < 0.0001). There was no significant change in mechanical thrombectomy volumes (0.7% [0.6-0.9]; p = 0.49). Stroke was diagnosed in 1.3% [1.31-1.38] of 406,792 COVID-19 hospitalizations. SARS-CoV-2 infection was present in 2.9% ([2.82-2.97], 5,656/195,539) of all stroke hospitalizations.There was a global decline and shift to lower-volume centers of stroke admission volumes, ICH volumes, and IVT volumes during the 1st year of the COVID-19 pandemic compared with the prior year. Mechanical thrombectomy volumes were preserved. These results suggest preservation in the stroke care of higher severity of disease through the first pandemic year.This study is registered under NCT04934020.
|
|
35. |
|
|
36. |
- Rasool, Mahmood, et al.
(författare)
-
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia
- 2008
-
Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 53:10, s. 894-8
-
Tidskriftsartikel (refereegranskat)abstract
- Isolated hypodontia, or congenital absence of one to six permanent teeth (OMIM 300606), is a common condition that affects about 20% of individuals worldwide. We identified two extended Pakistani pedigrees segregating X-linked hypodontia with variable expressivity. Affected males show no other associated anomalies, and obligate carrier females have normal dentition. We analyzed the families with polymorphic markers in the ectodysplasin A (EDA) gene region and obtained significant linkage to the phenotype in each pedigree (Z(max) 3.29 and 2.65, respectively, at theta = 0.00). Sequence analysis of the coding regions of EDA revealed a novel missense mutation c.1091T>C resulting in a methionine to threonine substitution (p.M364T) in the tumor necrosis factor (TNF) homology domain. Met364 is a highly conserved residue located on the outer surface of the EDA protein. From our findings, we suggest that the mutation disturbs but does not destroy the EDA structure, resulting in the partial and unusually mild ED phenotype restricted to hypodontia.
|
|
37. |
- Rivas, Manuel A., et al.
(författare)
-
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
- 2016
-
Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
-
Tidskriftsartikel (refereegranskat)abstract
- Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
|
|
38. |
- Suiter, Chase C., et al.
(författare)
-
Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity
- 2020
-
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. ; 117:10, s. 5394-5401
-
Tidskriftsartikel (refereegranskat)abstract
- As a prototype of genomics-guided precision medicine, individualized thiopurine dosing based on pharmacogenetics is a highly effective way to mitigate hematopoietic toxicity of this class of drugs. Recently, NUDT15 deficiency was identified as a genetic cause of thiopurine toxicity, and NUDT15-informed preemptive dose reduction was quickly adopted in clinical settings. To exhaustively identify pharmacogenetic variants in this gene, we developed massively parallel NUDT15 function assays to determine the variants' effect on protein abundance and thiopurine cytotoxicity. Of the 3,097 possible missense variants, we characterized the abundance of 2,922 variants and found 54 hotspot residues at which variants resulted in complete loss of protein stability. Analyzing 2,935 variants in the thiopurine cytotoxicity-based assay, we identified 17 additional residues where variants altered NUDT15 activity without affecting protein stability. We identified structural elements key to NUDT15 stability and/or catalytical activity with single amino acid resolution. Functional effects for NUDT15 variants accurately predicted toxicity risk alleles in patients treated with thiopurines with far superior sensitivity and specificity compared to bioinformatic prediction algorithms. In conclusion, our massively parallel variant function assays identified 1,152 deleterious NUDT15 variants, providing a comprehensive reference of variant function and vastly improving the ability to implement pharmacogenetics-guided thiopurine treatment individualization.
|
|
39. |
- Tariq, S., et al.
(författare)
-
Comparative study of Ce0.80Sm0.20 Ba0.80Y0.20O3-δ (YB-SDC) electrolyte by various chemical synthesis routes
- 2018
-
Ingår i: Results in Physics. - : Elsevier B.V.. - 2211-3797. ; 8, s. 780-784
-
Tidskriftsartikel (refereegranskat)abstract
- Solid Oxide Fuel Cells is received a significant attention in recent years due to higher efficiency and fuel flexibility. The one of the main challenge for SOFC is to lower the operating temperature of SOFCs. Therefore, different strategies are used in order to enhance the ionic conduction of electrolyte, which can lower the overall SOFC operating temperature. The present work is focused on this strategy to enhance the electrolytic conductivity. Therefore, the ceria based composite electrolytes Ce0.80Sm0.20B0.80Y0.20O3-δ (YBSDC) are synthesized using three different approaches i.e. co-precipitation (YBSDC-1), sol-gel (YBSDC-2) and ball milling (YBSDC-3). Their crystal structures and surface morphologies are characterized through X-ray Diffraction (XRD) and Scanning Electron Microscopy (SEM) techniques, respectively. The four-probe technique is employed to measure their dc conductivities in the temperature range (300–700) °C under air atmosphere. The open circuit voltage (OCV) and current are recorded with natural gas as fuel {flow rate kept at 100 ml min−1 at 1 atm pressure} over the temperature range (300–600) °C. The electrolyte (YBSDC-1) prepared by co-precipitation technique is shown better results as compare to other two electrolytes (YBSDC-2 and YBSDC-3). The electrolyte (YBSDC-1) having maximum dc conductivity (0.096 S/cm), peak power density 224 mW cm−2 and OCV 0.94 V at 600 °C. These results show that YBSDC-1electrolyte is potential candidate for low temperature SOFCs.
|
|
40. |
- Waseem, Muhammad, et al.
(författare)
-
Effect of Microwave Heat Processing on Nutritional Indices, Antinutrients, and Sensory Attributes of Potato Powder-Supplemented Flatbread
- 2022
-
Ingår i: Journal of Food Quality. - : Hindawi Limited. - 0146-9428 .- 1745-4557. ; 2022
-
Tidskriftsartikel (refereegranskat)abstract
- This study aims at evaluating nutritional, toxicological, and sensory attributes of microwave heat-treated potato powder-supplemented unleavened flatbread. Straight-grade wheat flour (SGF) was substituted with potato powder at the rate of 2.5-10% d.w. A comparison was made for nutritional, antinutrient, and organoleptic attributes of microwave heat-treated potato powder and SGF - potato powder composite flour-based flatbreads. The results suggest processed potato powder supplementation in SGF to significantly (p<0.05) improve ash (0.48 to 0.63 g/100 g), dietary fiber (2.15 to 2.61 g/100 g), and protein (8.33 to 9.91 g/100 g) contents of composite chapatis. Likewise, significant (p<0.05) improvement in the concentration of microelements and trace elements was observed including Ca, Na, K, Fe, and Zn contents, which were increased from 29.7 to 33.5 mg/100 g, 2.8 to 6.3 mg/100 g, 376 to 466 mg/100 g, 3.1 to 3.4 mg/100 g, and 3.17 to 3.25 mg/100 g, respectively. Microwave heating of potato powder was observed to reduce the load of alkaloids, oxalates, tannins, and phytates of the raw potato powder at the rate of 76%, 80%, 84%, and 82%, respectively, thus anticipating a promising response to minimize toxicant load in supplemented flatbread. Supplementing potato powder in SGF elucidated significant (p<0.05) improvement in color values, i.e., a∗ (1.89-2.32) and b∗ (10.95-13.22), and increased product hardness from 3.17 to 7.9 N. The study concludes that microwave heat-treated potato powder yield improved nutritional and safety concerns of the consumers when used alone or as a supplement for developing composite flours based on value-added products.
|
|
41. |
- Zakaria, Muhammad, et al.
(författare)
-
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42
- 2019
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 40:7, s. 899-903
-
Tidskriftsartikel (refereegranskat)abstract
- Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case has reached their third decade. Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648–5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]. Brain MRI of one affected individual showed markedly reduced volume of cerebral lobes and enlarged sulci but without signs of neural migration defects. Our assessment of three adult cases with a biallelic RTTN variant shows that a predicted shortened Rotatin, lacking the C‐terminal end, are associated with stationary clinical features into the seventh decade. Furthermore, our report adds brachydactyly to the phenotypic spectrum in this pleiotropic entity.
|
|
42. |
- Bravo, L, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
43. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|