1. |
- Lozano, Rafael, et al.
(author)
-
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
-
In: The Lancet. - : Elsevier. - 1474-547X .- 0140-6736. ; 392:10159, s. 2091-2138
-
Journal article (peer-reviewed)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.
|
|
2. |
- Sánchez Van Kammen, Mayte, et al.
(author)
-
Characteristics and Outcomes of Patients with Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia
- 2021
-
In: JAMA Neurology. - : American Medical Association. - 2168-6149 .- 2168-6157. ; 78:11, s. 1314-1323
-
Journal article (peer-reviewed)abstract
- Importance: Thrombosis with thrombocytopenia syndrome (TTS) has been reported after vaccination with the SARS-CoV-2 vaccines ChAdOx1 nCov-19 (Oxford-AstraZeneca) and Ad26.COV2.S (Janssen/Johnson & Johnson).Objective: To describe the clinical characteristics and outcome of patients with cerebral venous sinus thrombosis (CVST) after SARS-CoV-2 vaccination with and without TTS.Design, Setting, and Participants: This cohort study used data from an international registry of consecutive patients with CVST within 28 days of SARS-CoV-2 vaccination included between March 29 and June 18, 2021, from 81 hospitals in 19 countries. For reference, data from patients with CVST between 2015 and 2018 were derived from an existing international registry. Clinical characteristics and mortality rate were described for adults with (1) CVST in the setting of SARS-CoV-2 vaccine-induced immune thrombotic thrombocytopenia, (2) CVST after SARS-CoV-2 vaccination not fulling criteria for TTS, and (3) CVST unrelated to SARS-CoV-2 vaccination.Exposures: Patients were classified as having TTS if they had new-onset thrombocytopenia without recent exposure to heparin, in accordance with the Brighton Collaboration interim criteria.Main Outcomes and Measures: Clinical characteristics and mortality rate.Results: Of 116 patients with postvaccination CVST, 78 (67.2%) had TTS, of whom 76 had been vaccinated with ChAdOx1 nCov-19; 38 (32.8%) had no indication of TTS. The control group included 207 patients with CVST before the COVID-19 pandemic. A total of 63 of 78 (81%), 30 of 38 (79%), and 145 of 207 (70.0%) patients, respectively, were female, and the mean (SD) age was 45 (14), 55 (20), and 42 (16) years, respectively. Concomitant thromboembolism occurred in 25 of 70 patients (36%) in the TTS group, 2 of 35 (6%) in the no TTS group, and 10 of 206 (4.9%) in the control group, and in-hospital mortality rates were 47% (36 of 76; 95% CI, 37-58), 5% (2 of 37; 95% CI, 1-18), and 3.9% (8 of 207; 95% CI, 2.0-7.4), respectively. The mortality rate was 61% (14 of 23) among patients in the TTS group diagnosed before the condition garnered attention in the scientific community and 42% (22 of 53) among patients diagnosed later.Conclusions and Relevance: In this cohort study of patients with CVST, a distinct clinical profile and high mortality rate was observed in patients meeting criteria for TTS after SARS-CoV-2 vaccination..
|
|
3. |
|
|
4. |
- Murray, Christopher J. L., et al.
(author)
-
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
-
In: The Lancet. - 1474-547X .- 0140-6736. ; 392:10159, s. 1995-2051
-
Journal article (peer-reviewed)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.
|
|
5. |
- Sharma, Amit Kumar, et al.
(author)
-
Environment-Friendly Biodiesel/Diesel Blends for Improving the Exhaust Emission and Engine Performance to Reduce the Pollutants Emitted from Transportation Fleets
- 2020
-
In: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 17:11
-
Journal article (peer-reviewed)abstract
- Biodiesel derived from biomass is a renewable source of fuel, and global application of biodiesel in the transport sector has rapidly expanded over the last decade. However, effort has been made to overcome its main shortcoming, i.e., efficiency and exhaust emission characteristics (NOx emissions) in unmodified diesel engines. Biodiesel combustion generally results in lower unburned hydrocarbons (HC), carbon monoxide (CO), and particulate matter (PM) in exhaust emissions compared to fossil diesel. In this study, various biodiesel blends (Chlorella vulgaris, Jatropha curcus, and Calophyllum inophyllum) were investigated for fuel characteristics, and engine performance with exhaust emission compared to diesel. Chlorella vulgaris, Jatropha curcus, and Calophyllum inophyllum biodiesel were synthesized by the acid–base transesterification approach in a microwave reactor and blended with conventional diesel fuel by volume. The fuel blends were denoted as MB10 (90% diesel + 10% microalgae biodiesel), MB20 (80% diesel + 20% microalgae biodiesel), JB10 (90% diesel + 10% jatropha biodiesel), JB20 (80% diesel + 20% jatropha biodiesel), PB10 (90% diesel + 10% polanga biodiesel) and PB20 (80% diesel + 20% polanga biodiesel). Experiments were performed using these fuel blends with a single-cylinder four-stroke diesel engine at different loads. It was shown in the results that, at rated load, thermal efficiency of the engine decreased from 34.6% with diesel to 34.1%, 33.7%, 34.1%, 34.0%, 33.9%, and 33.5% with MB10, MB20, JB10, JB20, PB10, and PB20 fuels, respectively. Unburned hydrocarbon, carbon monoxide and smoke emissions improved with third-generation fuels (MB10, MB20) in comparison to base diesel fuel and second-generation fuels (JB10, JB20, PB10 and PB20). Oxides of nitrogen emissions were slightly increased with both the third- and second-generation fuels as compared to the base diesel. The combustion behavior of microalgae biodiesel was also very close to diesel fuels. In the context of comparable engine performance, emissions, and combustion characteristics, along with biofuel production yield (per year per acre), microalgae biodiesel could have a great potential as a next-generation sustainable fuel in compression engine (CI) engines compared to jatropha and polanga biodiesel fuels.
|
|
6. |
|
|
7. |
- Albano, Michele, et al.
(author)
-
Energy Saving by Blockchaining Maintenance.
- 2018
-
In: Journal of Industrial Engineering and Management Science. - : River Publishers. - 2446-1822. ; 2018:1, s. 63-88
-
Journal article (peer-reviewed)abstract
- The development and interest in Industry 4.0 together with rapid development of Cyber Physical Systems has created magnificent opportunities to develop maintenance to a totally new level. The Maintenance 4.0 vision considers massive exploitation of information regarding factories and machines to improve maintenance efficiency and efficacy, for example by facilitating logistics of spare parts, but on the other hand this creates other logistics issues on the data itself, which only exacerbate data management issues that emerge when distributed maintenance platforms scale up. In fact, factories can be delocalized with respect to the data centers, where data has to be transferred to be processed. Moreover, any transaction needs communication, be it related to purchase of spare parts, sales contract, and decisions making in general, and it has to be verified by remote parties. Keeping in mind the current average level of Overall Equipment Efficiency (50%) i.e. there is a hidden factory behind every factory, the potential is huge. It is expected that most of this potential can be realised based on the use of the above named technologies, and relying on a new approach called blockchain technology, the latter aimed at facilitating data and transactions management. Blockchain supports logistics by a distributed ledger to record transactions in a verifiable and permanent way, thus removing the need for multiple remote parties to verify and store every transaction made, in agreement with the first “r” of maintenance (reduce, repair, reuse, recycle). Keeping in mind the total industrial influence on the consumption of natural resources, such as energy, the new technology advancements can allow for dramatic savings, and can deliver important contributions to the green economy that Europe aims for. The paper introduces the novel technologies that can support sustainability of manufacturing and industry at large, and proposes an architecture to bind together said technologies to realise the vision of Maintenance 4.0.
|
|
8. |
|
|
9. |
- Ay, Hakan, et al.
(author)
-
Pathogenic Ischemic Stroke Phenotypes in the NINDS-Stroke Genetics Network
- 2014
-
In: Stroke. - 0039-2499. ; 45:12, s. 3589-3596
-
Journal article (peer-reviewed)abstract
- BACKGROUND AND PURPOSE: NINDS (National Institute of Neurological Disorders and Stroke)-SiGN (Stroke Genetics Network) is an international consortium of ischemic stroke studies that aims to generate high-quality phenotype data to identify the genetic basis of pathogenic stroke subtypes. This analysis characterizes the etiopathogenetic basis of ischemic stroke and reliability of stroke classification in the consortium. METHODS: Fifty-two trained and certified adjudicators determined both phenotypic (abnormal test findings categorized in major pathogenic groups without weighting toward the most likely cause) and causative ischemic stroke subtypes in 16954 subjects with imaging-confirmed ischemic stroke from 12 US studies and 11 studies from 8 European countries using the web-based Causative Classification of Stroke System. Classification reliability was assessed with blinded readjudication of 1509 randomly selected cases. RESULTS: The distribution of pathogenic categories varied by study, age, sex, and race (P<0.001 for each). Overall, only 40% to 54% of cases with a given major ischemic stroke pathogenesis (phenotypic subtype) were classified into the same final causative category with high confidence. There was good agreement for both causative (κ 0.72; 95% confidence interval, 0.69-0.75) and phenotypic classifications (κ 0.73; 95% confidence interval, 0.70-0.75). CONCLUSIONS: This study demonstrates that pathogenic subtypes can be determined with good reliability in studies that include investigators with different expertise and background, institutions with different stroke evaluation protocols and geographic location, and patient populations with different epidemiological characteristics. The discordance between phenotypic and causative stroke subtypes highlights the fact that the presence of an abnormality in a patient with stroke does not necessarily mean that it is the cause of stroke.
|
|
10. |
- Baglee, David, et al.
(author)
-
How can SMEs adopt a new method to advanced maintenance strategies : A Case study approach
- 2018
-
In: Conference Proceedings: 30th International Conference on Condition Monitoring and Diagnostic Engineering Management (COMADEM 2017). - : University of Central Lancashire. - 9781909755154 ; , s. 155-162
-
Conference paper (peer-reviewed)abstract
- Maintenance is crucial to manufacturing operations. In many organisations, the production equipmentrepresents the majority of invested capital, and deterioration of these facilities and equipment increasesproduction costs, reduces product quality. Over recent years the importance of maintenance, and thereforemaintenance management, within manufacturing organisations has grown. The maintenance function hasbecome an increasingly important and complex activity, particularly as automation increases. Theopportunity exists for many organisations to benefit substantially through improvements to theircompetitiveness and profitability by adopting a new approach to maintenance management. Several toolsand technologies including Condition Based Maintenance (CBM), Reliability Centred Maintenance (RCM)and more recently e-maintenance have developed under the heading of Advanced Maintenance Strategies.However, the adoption of advanced maintenance strategies and their potential benefits are usuallydemonstrated in large organisations. Unfortunately, the majority of organisations are constrained by thelack of knowledge and understanding on the requirements, which need to be in place before adopting anadvanced maintenance strategy. These are usually classified as Small and Medium Sized Enterprises(SMEs).The research strategy is based on ‘empirical iterations’ using survey secondary data, experts’ interviewsinformation and multiple case studies. The results show that there is a set of recommendations, whichstrongly influence the implementation of an Advanced Maintenance Strategy (AMS) with a Small toMedium Enterprise (SME). Organisations require a structured and integrative approach in order to takeadvantage of a new approach to maintenance management. This paper will propose recommendations forintegrating an AMS into the organisation and provide evidence of a successful implementation.
|
|
11. |
- Baglee, David, et al.
(author)
-
How Does CBM Function in the Real World?
- 2016
-
In: MFPT 2015 and ISA’s 61st International Instrumentation Symposium, At Dayton. Ohio.
-
Conference paper (peer-reviewed)abstract
- Manufacturing organizations are under increasing pressure to meet customer and corporate demands by implementing improved maintenance initiatives to reduce costs, improve equipment availability, and protect against failure of critical equipment. Condition Based Maintenance (CBM) is widely accepted and used as a financially effective maintenance strategy which is used to anticipate equipment or component failure. Recent technological advances in component sensitivities, size reductions, and most importantly, cost has opened up an entirely new area of diagnostics. The economic benefit of CBM is achieved if the approach to maintenance is applied to the right equipment and through appropriate tools. In particular the degradation behavior of the equipment needs to be understood to correctly deploy a CBM approach and specific actions to specific equipment or components. Failure modes can be applied to support and optimise the decision making process. Using failure modes can be an efficient low-risk tool process for the prevention of problems, and is referred to as a deductive technique that consists of failure identification in each component. However, the literature is limited regarding the importance and the role of various failure models in different industrial sectors. Thus, if failure models are not known, understood and utilised correctly the use of CBM will not lead to financial benefits. The paper examines the relationship between the failure patterns observed in industrial maintenance practice and the corresponding impact on adoption and potential benefits of Condition-Based Maintenance (CBM). The paper will explain the need for accurate and up to date equipment information to support the correct maintenance approach. The paper suggests the importance of further supporting such investments by appropriately addressing the need to collect relevant data as a basis upon which to make the right decisions.
|
|
12. |
- Baglee, David, et al.
(author)
-
Optimizing Condition Monitoring of Big Data Systems
- 2017
-
In: Proceedings of the 2017 International Conference on Data Mining. - : CSREA Press. - 1601324537 ; , s. 127-131
-
Conference paper (peer-reviewed)abstract
- Industrial communication networks are common in a number of manufacturing organisations. The high availability of these networks is crucial for smooth plant operations. Therefore local and remote diagnostics of these networks is of primary importance in determining issues relating to plant reliability and availability. Condition Monitoring (CM) techniques when connected to a network provide a diagnostic system for remote monitoring of manufacturing equipment. The system monitors the health of the network and the equipment and is therefore able to predict performance. However, this leads to the collection, storage and analyses of large amounts of data, which must provide value. These large data sets are commonly referred to as Big Data. This paper presents a general concept of the use of condition monitoring and big data systems to show how they complement each other to provide valuable data to enhance manufacturing competiveness.
|
|
13. |
- Bellenguez, Celine, et al.
(author)
-
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke
- 2012
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:3, s. 141-328
-
Journal article (peer-reviewed)abstract
- Genetic factors have been implicated in stroke risk, but few replicated associations have been reported. We conducted a genome-wide association study (GWAS) for ischemic stroke and its subtypes in 3,548 affected individuals and 5,972 controls, all of European ancestry. Replication of potential signals was performed in 5,859 affected individuals and 6,281 controls. We replicated previous associations for cardioembolic stroke near PITX2 and ZFHX3 and for large vessel stroke at a 9p21 locus. We identified a new association for large vessel stroke within HDAC9 (encoding histone deacetylase 9) on chromosome 7p21.1 (including further replication in an additional 735 affected individuals and 28,583 controls) (rs11984041; combined P = 1.87 x 10(-11); odds ratio (OR) = 1.42, 95% confidence interval (CI) = 1.28-1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes.
|
|
14. |
- Bishnoi, Sunita, et al.
(author)
-
Electrochemical Sensing of Chlorpyrifos, a Carcinogen Responsible for Breast Cancer, in Milk and Plasma of Lactating Mothers
- 2023
-
In: Electroanalysis. - : Wiley. - 1040-0397 .- 1521-4109. ; 35:2
-
Journal article (peer-reviewed)abstract
- In view of the increase in breast cancer cases at the global level, electrochemical sensing of the carcinogenic pesticide, chlorpyrifos (CPF) in breast milk is proposed. The determination is based on the nucleophilic substitution reaction of pralidoxime (PAM) with CPF. The proposed method offers a linear concentration range of 0.002 to 0.08 μmol/L. The limit of detection and limit of quantification was found to be 0.05×10−9 and 0.167×10−9M, respectively. The offered “unmodified edge plane pyrolytic graphite sensor” proved to be a better substrate than the earlier reported modified sensors. The limit of detection for the proposed method was found to be nearly fifty times lower than reported at modified electrodes. The interference study proved the adequate selectivity of the offered sensor. The sensor has good stability and reproducibility along with high sensitivity. The offered sensor is very useful for cancer hospitals, pesticide industries, and the study of environmental toxicity-related issues.
|
|
15. |
- Bonkhoff, Anna K, et al.
(author)
-
The relevance of rich club regions for functional outcome post-stroke is enhanced in women.
- 2023
-
In: Human brain mapping. - : Wiley. - 1097-0193 .- 1065-9471. ; 44:4, s. 1579-1592
-
Journal article (peer-reviewed)abstract
- This study aimed to investigate the influence of stroke lesions in predefined highly interconnected (rich-club) brain regions on functional outcome post-stroke, determine their spatial specificity and explore the effects of biological sex on their relevance. We analyzed MRI data recorded at index stroke and ~3-months modified Rankin Scale (mRS) data from patients with acute ischemic stroke enrolled in the multisite MRI-GENIE study. Spatially normalized structural stroke lesions were parcellated into 108 atlas-defined bilateral (sub)cortical brain regions. Unfavorable outcome (mRS>2) was modeled in a Bayesian logistic regression framework. Effects of individual brain regions were captured as two compound effects for (i) six bilateral rich club and (ii) all further non-rich club regions. In spatial specificity analyses, we randomized the split into "rich club" and "non-rich club" regions and compared the effect of the actual rich club regions to the distribution of effects from 1000 combinations of six random regions. In sex-specific analyses, we introduced an additional hierarchical level in our model structure to compare male and female-specific rich club effects. A total of 822 patients (age: 64.7[15.0], 39% women) were analyzed. Rich club regions had substantial relevance in explaining unfavorable functional outcome (mean of posterior distribution: 0.08, area under the curve: 0.8). In particular, the rich club-combination had a higher relevance than 98.4% of random constellations. Rich club regions were substantially more important in explaining long-term outcome in women than in men. All in all, lesions in rich club regions were associated with increased odds of unfavorable outcome. These effects were spatially specific and more pronounced in women.
|
|
16. |
- Bretzner, Martin, et al.
(author)
-
Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke.
- 2023
-
In: Neurology. - 1526-632X .- 0028-3878. ; 100:8
-
Journal article (peer-reviewed)abstract
- While chronological age is one of the most influential determinants of poststroke outcomes, little is known of the impact of neuroimaging-derived biological "brain age." We hypothesized that radiomics analyses of T2-FLAIR images texture would provide brain age estimates and that advanced brain age of patients with stroke will be associated with cardiovascular risk factors and worse functional outcomes.We extracted radiomics from T2-FLAIR images acquired during acute stroke clinical evaluation. Brain age was determined from brain parenchyma radiomics using an ElasticNet linear regression model. Subsequently, relative brain age (RBA), which expresses brain age in comparison with chronological age-matched peers, was estimated. Finally, we built a linear regression model of RBA using clinical cardiovascular characteristics as inputs and a logistic regression model of favorable functional outcomes taking RBA as input.We reviewed 4,163 patients from a large multisite ischemic stroke cohort (mean age = 62.8 years, 42.0% female patients). T2-FLAIR radiomics predicted chronological ages (mean absolute error = 6.9 years, r = 0.81). After adjustment for covariates, RBA was higher and therefore described older-appearing brains in patients with hypertension, diabetes mellitus, a history of smoking, and a history of a prior stroke. In multivariate analyses, age, RBA, NIHSS, and a history of prior stroke were all significantly associated with functional outcome (respective adjusted odds ratios: 0.58, 0.76, 0.48, 0.55; all p-values < 0.001). Moreover, the negative effect of RBA on outcome was especially pronounced in minor strokes.T2-FLAIR radiomics can be used to predict brain age and derive RBA. Older-appearing brains, characterized by a higher RBA, reflect cardiovascular risk factor accumulation and are linked to worse outcomes after stroke.
|
|
17. |
- Campos, Jaime, et al.
(author)
-
A big data analytical architecture for the Asset Management
- 2017
-
In: Industrial Product/Service-Systems (IPSS) Conference. - : Elsevier. ; , s. 369-374
-
Conference paper (peer-reviewed)abstract
- The paper highlights the characteristics of data and big data analytics in manufacturing, more specifically for the industrial asset management. The authors highlight important aspects of the analytical system architecture for purposes of asset management. The authors cover the data and big data technology aspects of the domain of interest. This is followed by application of the big data analytics and technologies, such as machine learning and data mining for asset management. The paper also presents the aspects of visualisation of the results of data analytics. In conclusion, the architecture provides a holistic view of the aspects and requirements of a big data technology application system for purposes of asset management. The issues addressed in the paper, namely equipment health, reliability, effects of unplanned breakdown, etc., are extremely important for today's manufacturing companies. Moreover, the customer's opinion and preferences of the product/services are crucial as it gives an insight into the ways to improve in order to stay competitive in the market. Finally, a successful asset management function plays an important role in the manufacturing industry, which is dependent on the support of proper ICTs for its further success. (C) 2017 The Authors Published by Elsevier B.V.
|
|
18. |
- Campos, Jaime, et al.
(author)
-
An Open Source Framework Approach to Support Condition Monitoring and Maintenance
- 2020
-
In: Applied Sciences. - : MDPI. - 2076-3417. ; 10:18, s. 1-17
-
Journal article (peer-reviewed)abstract
- This paper discusses the integration of emergent ICTs, such as the Internet of Things (IoT), the Arrowhead Framework, and the best practices from the area of condition monitoring and maintenance. These technologies are applied, for instance, for roller element bearing fault diagnostics and analysis by simulating faults. The authors first undertook the leading industry standards for condition-based maintenance (CBM), i.e., open system architecture–condition-based maintenance (OSA–CBM) and Machinery Information Management Open System Alliance (MIMOSA), which has been working towards standardizing the integration and interchangeability between systems. In addition, this paper highlights the predictive health monitoring methods that are needed for an effective CBM approach. The monitoring of industrial machines is discussed as well as the necessary details are provided regarding a demonstrator built on a metal sheet bending machine of the Greenbender family. Lastly, the authors discuss the benefits of the integration of the developed prototypes into a service-oriented platform, namely the Arrowhead Framework, which can be instrumental for the remotization of maintenance activities, such as the analysis of various equipment that are geographically distributed, to push forward the grand vision of the servitization of predictive health monitoring methods for large-scale interoperability.
|
|
19. |
- Campos, Jaime, et al.
(author)
-
Arrowhead Framework services for condition monitoring and maintenance based on the open source approach
- 2019
-
In: 6th International Conference on Control Decision Information Technologies (CoDIT 2019). - : IEEE. - 9781728105215 - 9781728105208 - 9781728105222 ; , s. 697-702
-
Conference paper (peer-reviewed)abstract
- The emergence of new Information and Communication Technologies, such as the Internet of Things and big data and data analytics provides opportunities as well as challenges for the domain of interest, and this paper discusses their importance in condition monitoring and maintenance. In addition, the Open system architecture for condition-based maintenance (OSA-CBM), and the Predictive Health Monitoring methods are gone through. Thereafter, the paper uses bearing fault data from a simulation model with the aim to produce vibration signals where different parameters of the model can be controlled. In connection to the former mentioned a prototype was developed and tested for purposes of simulated rolling element bearing fault systems signals with appropriate fault diagnostic and analytics. The prototype was developed taking into consideration recommended standards (e.g., the OSA-CBM). In addition, the authors discuss the possibilities to incorporate the developed prototype into the Arrowhead framework, which would bring possibilities to: analyze various equipment geographically dispersed, especially in this case its rolling element bearing; support servitization of Predictive Health Monitoring methods and large-scale interoperability; and, to facilitate the appearance of novel actors in the area and thus competition.
|
|
20. |
- Campos, Jaime, et al.
(author)
-
Business Performance Measurements in Asset Management with the Support of Big Data Technologies
- 2017
-
In: Management Systems in Production Engineering. - : De Gruyter Open. - 2299-0461 .- 2450-5781. ; 25:3, s. 143-149
-
Journal article (peer-reviewed)abstract
- The paper reviews the performance measurement in the domain of interest. Important data in asset management are further, discussed. The importance and the characteristics of today’s ICTs capabilities are also mentioned in the paper. The role of new concepts such as big data and data mining analytical technologies in managing the performance measurements in asset management are discussed in detail. The authors consequently suggest the use of the modified Balanced Scorecard methodology highlighting both quantitative and qualitative aspects, which is crucial for optimal use of the big data approach and technologies.
|
|
21. |
- Campos, Jaime, et al.
(author)
-
Business performance measurements in asset management with the support of big data technologies
- 2016
-
In: Proceedings of MPMM 2016. - : Luleå tekniska universitet. - 9789175838410 ; , s. 89-95
-
Conference paper (peer-reviewed)abstract
- The paper reviews the performancemeasurement in the domain of interest. Important data in assetmanagement are further, discussed. The importance and thecharacteristics of today’s ICTs capabilities are also mentionedin the paper. The role of new concepts such as big data anddata mining analytical technologies in managing theperformance measurements in asset management are discussedin detail. The authors consequently suggest the use of themodified Balanced Scorecard methodology highlighting bothquantitative and qualitative aspects, which is crucial foroptimal use of the big data approach and technologies.
|
|
22. |
- Campos, Jaime, et al.
(author)
-
The challenges of cybersecurity frameworks to protect data required for the development of advanced maintenance
- 2016
-
In: Product-Service Systems Across Life Cycle. - : Elsevier. ; , s. 222-227
-
Conference paper (peer-reviewed)abstract
- The main objective of the paper is to highlight the important aspects of the data management in condition monitoring and maintenance, especially when the emergent technologies, such as the cloud computing and big data, are to be considered in the maintenance department. In addition, one of the main data management elements highlighted in the current work are the cybersecurity issues which might be one of the biggest obstacles hindering the development of cloud based big data for condition-based maintenance (CBM) purposes. Further, the benefits and current risks of storing a company's data in the cloud are highlighted. The authors discuss as well different data needs in various processes in the area of asset management. In addition, the challenges and issues to be addressed for the optimal use of the company data at the cloud together with the big data approach are addressed. This is seen as an important part in an effort to achieve sustainable information and communication technologies for the industry.
|
|
23. |
- Campos, Jaime, et al.
(author)
-
The Use of Relational and NoSQL Databases in Industrial Asset Management
- 2020
-
In: Engineering Assets and Public Infrastructures in the Age of Digitalization. - Cham : Springer. - 9783030480219 - 9783030480202 ; , s. 302-308
-
Book chapter (peer-reviewed)abstract
- The advancements concerning the development of ICT systemsincluding Internet of Things (IoT), big data, cloud computing and NoSQLdatabases provide new opportunities and challenges for industrial asset management.The use of NoSQL databases has emerged due to the limitations of therelational databases, in particular, the inability to scale-up horizontally and tomanage the data that is constantly generated by industry. The current workhighlights the key aspects of both relational and NoSQL databases. The paperprovides a review of the database technologies mentioned above. In this context,in order to demonstrate the effectiveness and adequacy of NoSQL databases, areal industrial case study is presented. The authors also discuss the differentdatabase technologies and their suitability in the domain of interest.
|
|
24. |
- Cheng, Yu-Ching, et al.
(author)
-
Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2.
- 2016
-
In: Stroke; a journal of cerebral circulation. - 1524-4628. ; 47:2, s. 307-16
-
Journal article (peer-reviewed)abstract
- Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been identified by large-scale genetic association studies to date. Hypothesizing that genetic effects might be stronger for early- versus late-onset stroke, we conducted a 2-stage meta-analysis of genome-wide association studies, focusing on stroke cases with an age of onset <60 years.
|
|
25. |
- Cole, John W, et al.
(author)
-
Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.
- 2018
-
In: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 13:11
-
Journal article (peer-reviewed)abstract
- Polymorphisms in coagulation genes have been associated with early-onset ischemic stroke. Here we pursue an a priori hypothesis that genetic variation in the endothelial-based receptors of the thrombomodulin-protein C system (THBD and PROCR) may similarly be associated with early-onset ischemic stroke. We explored this hypothesis utilizing a multi-stage design of discovery and replication.Discovery was performed in the Genetics-of-Early-Onset Stroke (GEOS) Study, a biracial population-based case-control study of ischemic stroke among men and women aged 15-49 including 829 cases of first ischemic stroke (42.2% African-American) and 850 age-comparable stroke-free controls (38.1% African-American). Twenty-four single-nucleotide-polymorphisms (SNPs) in THBD and 22 SNPs in PROCR were evaluated. Following LD pruning (r2≥0.8), we advanced uncorrelated SNPs forward for association analyses. Associated SNPs were evaluated for replication in an early-onset ischemic stroke population (onset-age<60 years) consisting of 3676 cases and 21118 non-stroke controls from 6 case-control studies. Lastly, we determined if the replicated SNPs also associated with older-onset ischemic stroke in the METASTROKE data-base.Among GEOS Caucasians, PROCR rs9574, which was in strong LD with 8 other SNPs, and one additional independent SNP rs2069951, were significantly associated with ischemic stroke (rs9574, OR = 1.33, p = 0.003; rs2069951, OR = 1.80, p = 0.006) using an additive-model adjusting for age, gender and population-structure. Adjusting for risk factors did not change the associations; however, associations were strengthened among those without risk factors. PROCR rs9574 also associated with early-onset ischemic stroke in the replication sample (OR = 1.08, p = 0.015), but not older-onset stroke. There were no PROCR associations in African-Americans, nor were there any THBD associations in either ethnicity.PROCR polymorphisms are associated with early-onset ischemic stroke in Caucasians.
|
|
26. |
- Cotlarciuc, Ioana, et al.
(author)
-
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
- 2016
-
In: BMJ open. - : BMJ. - 2044-6055. ; 6:11
-
Journal article (peer-reviewed)abstract
- Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease.BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders.
|
|
27. |
- Debette, Stéphanie, et al.
(author)
-
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
- 2015
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 47, s. 78-83
-
Journal article (peer-reviewed)abstract
- Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year)1. Minor cervical traumas, infection, migraine and hypertension are putative risk factors1–3, and inverse associations with obesity and hypercholesterolemia are described3,4. No confirmed genetic susceptibility factors have been identified using candidate gene approaches5. We performed genome-wide association studies (GWAS) in 1 1,393 CeAD cases and 1 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69–0.82; P = 4.46 × 1 10−10), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 1 × 1 10−3; combined P = 1 1.00 × 1 10−1111). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction6–9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.
|
|
28. |
- Giese, Anne Katrin, et al.
(author)
-
Design and rationale for examining neuroimaging genetics in ischemic stroke : The MRI-GENIE study
- 2017
-
In: Neurology: Genetics. - 2376-7839. ; 3:5
-
Journal article (peer-reviewed)abstract
- Objective: To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. Methods: MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 international SiGN sites contributedMRIs of 3,301 patients with AIS. Detailed clinical phenotyping with the web-based Causative Classification of Stroke (CCS) system and genome-wide genotyping data were available for all participants. Neuroimaging analyses include themanual and automated assessments of established MRI markers. A high-throughputMRI analysis pipeline for the automated assessment of cerebrovascular lesions on clinical scans will be developed in a subset of scans for both acute and chronic lesions, validated against gold standard, and applied to all available scans. The extracted neuroimaging phenotypes will improve characterization of acute and chronic cerebrovascular lesions in ischemic stroke, including CCS subtypes, and their effect on functional outcomes after stroke. Moreover, genetic testing will uncover variants associated with acute and chronic MRI manifestations of cerebrovascular disease.Conclusions: The MRI-GENIE study aims to develop, validate, and distribute the MRI analysis platform for scans acquired as part of clinical care for patients with AIS, which will lead to (1) novel genetic discoveries in ischemic stroke, (2) strategies for personalized stroke risk assessment, and (3) personalized stroke outcome assessment.
|
|
29. |
- Giese, Anne Katrin, et al.
(author)
-
White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype
- 2020
-
In: Neurology. - 0028-3878. ; 95:1, s. 79-88
-
Journal article (peer-reviewed)abstract
- ObjectiveTo examine etiologic stroke subtypes and vascular risk factor profiles and their association with white matter hyperintensity (WMH) burden in patients hospitalized for acute ischemic stroke (AIS).MethodsFor the MRI Genetics Interface Exploration (MRI-GENIE) study, we systematically assembled brain imaging and phenotypic data for 3,301 patients with AIS. All cases underwent standardized web tool-based stroke subtyping with the Causative Classification of Ischemic Stroke (CCS). WMH volume (WMHv) was measured on T2 brain MRI scans of 2,529 patients with a fully automated deep-learning trained algorithm. Univariable and multivariable linear mixed-effects modeling was carried out to investigate the relationship of vascular risk factors with WMHv and CCS subtypes.ResultsPatients with AIS with large artery atherosclerosis, major cardioembolic stroke, small artery occlusion (SAO), other, and undetermined causes of AIS differed significantly in their vascular risk factor profile (all p < 0.001). Median WMHv in all patients with AIS was 5.86 cm3 (interquartile range 2.18-14.61 cm3) and differed significantly across CCS subtypes (p < 0.0001). In multivariable analysis, age, hypertension, prior stroke, smoking (all p < 0.001), and diabetes mellitus (p = 0.041) were independent predictors of WMHv. When adjusted for confounders, patients with SAO had significantly higher WMHv compared to those with all other stroke subtypes (p < 0.001).ConclusionIn this international multicenter, hospital-based cohort of patients with AIS, we demonstrate that vascular risk factor profiles and extent of WMH burden differ by CCS subtype, with the highest lesion burden detected in patients with SAO. These findings further support the small vessel hypothesis of WMH lesions detected on brain MRI of patients with ischemic stroke.
|
|
30. |
- Heddam, Salim, et al.
(author)
-
Hybrid river stage forecasting based on machine learning with empirical mode decomposition
- 2024
-
In: Applied water science. - : Springer Nature. - 2190-5487 .- 2190-5495. ; 14:3
-
Journal article (peer-reviewed)abstract
- The river stage is certainly an important indicator of how the water level fluctuates overtime. Continuous control of the water stage can help build an early warning indicator of floods along rivers and streams. Hence, forecasting river stages up to several days in advance is very important and constitutes a challenging task. Over the past few decades, the use of machine learning paradigm to investigate complex hydrological systems has gained significant importance, and forecasting river stage is one of the promising areas of investigations. Traditional in situ measurements, which are sometime restricted by the existing of several handicaps especially in terms of regular access to any points alongside the streams and rivers, can be overpassed by the use of modeling approaches. For more accurate forecasting of river stages, we suggest a new modeling framework based on machine learning. A hybrid forecasting approach was developed by combining machine learning techniques, namely random forest regression (RFR), bootstrap aggregating (Bagging), adaptive boosting (AdaBoost), and artificial neural network (ANN), with empirical mode decomposition (EMD) to provide a robust forecasting model. The singles models were first applied using only the river stage data without preprocessing, and in the following step, the data were decomposed into several intrinsic mode functions (IMF), which were then used as new input variables. According to the obtained results, the proposed models showed improved results compared to the standard RFR without EMD for which, the error performances metrics were drastically reduced, and the correlation index was increased remarkably and great changes in models’ performances have taken place. The RFR_EMD, Bagging_EMD, and AdaBoost_EMD were less accurate than the ANN_EMD model, which had higher R≈0.974, NSE≈0.949, RMSE≈0.330 and MAE≈0.175 values. While the RFR_EMD and the Bagging_EMD were relatively equal and exhibited the same accuracies higher than the AdaBoost_EMD, the superiority of the ANN_EMD was obvious. The proposed model shows the potential for combining signal decomposition with machine learning, which can serve as a basis for new insights into river stage forecasting.
|
|
31. |
|
|
32. |
- Jantunen, Erkki, et al.
(author)
-
Digitalisation of Maintenance
- 2017
-
In: 2nd International Conference on System Reliability and Safety, ICSRS 2017, 20 - 22 December 2017, Milan, Italy. - : IEEE. - 9781538633229 ; , s. 343-347
-
Conference paper (peer-reviewed)abstract
- The digitalisation of industry and the Industry 4.0 concept with its connected ICTs are important developments for the industry to acquire and implement to be able to keep ahead in competition. In connection to Industry 4.0, the predictive maintenance systems and approach are getting more popular in maintenance. This is because these systems enable a change in the maintenance mind-set where the break-fix mentality is substituted by a predictive maintenance system, such as Condition Based Maintenance (CBM), where the equipment is monitored with the support of ICTs to detect failures before they occur. The Industry 4.0 seems more attainable even for small and medium sized companies because of the drop in the prices of the components of these systems, both in the sensing elements and in the data processing part. The manufacturing methods used in the Integrated Circuit (IC) industry create the possibility to reduce significantly the price tag of sensors and processors. Therefore, the authors go through the CBM approach and technologies, such as Microelectromechanical System (MEMS) sensors as well as such emerging ICTs as the Cloud and Big data. These could offer a turning point in traditional maintenance by widening the amount of monitored assets, allowing multiple parameters to be measured and analysed and enabling wireless and immediate data access across the globe.
|
|
33. |
|
|
34. |
- Kabir, Zarina Nahar, et al.
(author)
-
mHealth based intervention by social care professionals to support family caregivers to persons with dementia living at home in Sweden (Caregiver Connect) : A randomized controlled trial
- 2024
-
In: BMC Geriatrics. - 1471-2318. ; 24
-
Journal article (peer-reviewed)abstract
- BACKGROUND: The majority of persons with dementia in Sweden reside in their own homes with support from family members. Approximately, 12% of persons with dementia have immigrant background. Within the next 20 years, the number of persons with dementia who are non-ethnic Swedes is said to double. Family caregivers with immigrant backgrounds are noted to receive less support in the community than ethnic Swedes and rate their health status lower than ethnic Swedish peers. The Swedish National Board of Health and Welfare have highlighted the importance of follow-up support for family caregivers with immigrant backgrounds as there is a recognized gap in research and available information tailored to meet the needs of this group.PURPOSE OF THE STUDY: The purpose of the study is to test effectiveness of an mHealth based intervention through which community social workers can improve caregiving competence of non-European immigrant family caregivers of people with dementia living at home in Sweden. The overarching aim is to reduce caregiver burden and depressive symptoms, and improve quality of life.METHODS: A randomized controlled trial (RCT) including wait list control group will be performed consisting of an intervention group (A, n = 44) and a wait list control group (B, n = 44), totaling a sample size of 88. On completion of the 10-weeks long intervention in the intervention group, the intervention will be delivered to group B. Effect of the intervention will be analyzed between and within groups over time. The content of the educational component of the intervention is inspired by the iSupport manual developed by the World Health Organization. The contents, in the form of a booklet, aims to equip the family caregivers with structured information on understanding dementia as a condition and its management at home, including self-care guidance designed specifically for family caregivers themselves.DISCUSSION: Similar telephone-delivered intervention studies targeted for family caregivers to persons with dementia are ongoing in Malaysia and will start in India using the same booklet adapted to the local context. These studies will provide evidence on the effectiveness of using digital technologies to deliver support to those who may not be reached or adequately served by the traditional healthcare system.TRIAL REGISTRATION: ISRCTN registry, Registration number ISRCTN64235563.
|
|
35. |
- Kilarski, Laura L., et al.
(author)
-
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12
- 2014
-
In: Neurology. - 1526-632X .- 0028-3878. ; 83:8, s. 678-685
-
Journal article (peer-reviewed)abstract
- Objectives: To perform a genome-wide association study (GWAS) using the Immunochip array in 3,420 cases of ischemic stroke and 6,821 controls, followed by a meta-analysis with data from more than 14,000 additional ischemic stroke cases. Methods: Using the Immunochip, we genotyped 3,420 ischemic stroke cases and 6,821 controls. After imputation we meta-analyzed the results with imputed GWAS data from 3,548 cases and 5,972 controls recruited from the ischemic stroke WTCCC2 study, and with summary statistics from a further 8,480 cases and 56,032 controls in the METASTROKE consortium. A final in silico "look-up" of 2 single nucleotide polymorphisms in 2,522 cases and 1,899 controls was performed. Associations were also examined in 1,088 cases with intracerebral hemorrhage and 1,102 controls. Results: In an overall analysis of 17,970 cases of ischemic stroke and 70,764 controls, we identified a novel association on chromosome 12q24 (rs10744777, odds ratio [OR] 1.10 [1.07-1.13], p = 7.12 x 10(-11)) with ischemic stroke. The association was with all ischemic stroke rather than an individual stroke subtype, with similar effect sizes seen in different stroke subtypes. There was no association with intracerebral hemorrhage (OR 1.03 [0.90-1.17], p = 0.695). Conclusion: Our results show, for the first time, a genetic risk locus associated with ischemic stroke as a whole, rather than in a subtype-specific manner. This finding was not associated with intracerebral hemorrhage.
|
|
36. |
- Koettgen, Anna, et al.
(author)
-
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
- 2013
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:2, s. 145-154
-
Journal article (peer-reviewed)abstract
- Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SEMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.
|
|
37. |
- Kumar, Nitish, et al.
(author)
-
Functional surface layers in relaxor ferroelectrics
- 2020
-
In: Journal of Materials Chemistry C. - : Royal Society of Chemistry (RSC). - 2050-7534 .- 2050-7526. ; 8:23, s. 7663-7671
-
Journal article (peer-reviewed)abstract
- Relaxor ferroelectrics are technologically important materials for applications in, for example, high-temperature capacitors, transducers and nano-positioning systems. These materials have often been reported to exhibit surface or skin layers with distinct physical properties to the bulk. The control of formation and functionality of these skin layers has remained elusive and is becoming increasingly critical due to device miniaturization, where the surface contribution to overall material properties becomes significant. We recently demonstrated that the distinct structural distortion of the skin layer is intimately related to the internal chemical pressure applied by oxygen vacancies and the plane stress conditions at the surface. (S. Kong, N. Kumar, S. Checchia, C. Cazorla and J. Daniels, Adv. Funct. Mater., 2019, 29, 1900344) Here, we demonstrate a unique capability to control the formation and properties of the skin layer through the control of defect concentration. Most interestingly, the skin layer is polar and both electrically and optically active, making it functional and a new candidate for low operating voltage and/or optoelectronic devices. The surface domains in the skin could be altered by applying a small voltage bias (1000 times lower than bulk) or light illumination. A reversible optical change in surface domains provides a new non-contact external control to tune the material polarisation.
|
|
38. |
- Malik, Rainer, et al.
(author)
-
Low-frequency and common genetic variation in ischemic stroke : The METASTROKE collaboration
- 2016
-
In: Neurology. - 1526-632X. ; 86:13, s. 26-1217
-
Journal article (peer-reviewed)abstract
- OBJECTIVE: To investigate the influence of common and low-frequency genetic variants on the risk of ischemic stroke (all IS) and etiologic stroke subtypes.METHODS: We meta-analyzed 12 individual genome-wide association studies comprising 10,307 cases and 19,326 controls imputed to the 1000 Genomes (1 KG) phase I reference panel. We selected variants showing the highest degree of association (p < 1E-5) in the discovery phase for replication in Caucasian (13,435 cases and 29,269 controls) and South Asian (2,385 cases and 5,193 controls) samples followed by a transethnic meta-analysis. We further investigated the p value distribution for different bins of allele frequencies for all IS and stroke subtypes.RESULTS: We showed genome-wide significance for 4 loci: ABO for all IS, HDAC9 for large vessel disease (LVD), and both PITX2 and ZFHX3 for cardioembolic stroke (CE). We further refined the association peaks for ABO and PITX2. Analyzing different allele frequency bins, we showed significant enrichment in low-frequency variants (allele frequency <5%) for both LVD and small vessel disease, and an enrichment of higher frequency variants (allele frequency 10% and 30%) for CE (all p < 1E-5).CONCLUSIONS: Our findings suggest that the missing heritability in IS subtypes can in part be attributed to low-frequency and rare variants. Larger sample sizes are needed to identify the variants associated with all IS and stroke subtypes.
|
|
39. |
- Mejia Niño, Carolina, et al.
(author)
-
An iterative process to extract value from maintenance projects
- 2018
-
In: Proceedings of the 3rd International Conference on Maintenance Engineering IncoME-III 2018. - : University of Coimbra. - 9789898200174 ; , s. 319-335
-
Conference paper (peer-reviewed)abstract
- Research and development projects are producing novel maintenance strategies and techniques. Anyway, it is not straightforward to transfer results from the lab to the real world, and thus many projects, both internal to a company and in cooperation between the members of a consortium, speculate how to perform this feat, called “exploitation” in the context of European projects. This paper discusses the necessity of novel techniques in modern maintenance, and then introduces a novel approach to the problem of transferring innovation from the lab to the market. The novel approach spawns from the “spiral software development” process and proceeds as a set of iterations that bring together different stakeholders to increase the number of products, techniques and results in general that can survive the end of a research and development project. The approach was applied to a large European project, which is described as use case, and the paper reports on the encouraging results that were attained.
|
|
40. |
|
|
41. |
- Ranjan, Redoy, et al.
(author)
-
Coma in adult cerebral venous thrombosis: The BEAST study
- 2024
-
In: EUROPEAN JOURNAL OF NEUROLOGY. - 1351-5101 .- 1468-1331. ; 31:8
-
Journal article (peer-reviewed)abstract
- Background and purpose: Coma is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT. Methods: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with <10% missing data in univariate analysis were considered for the multivariate logistic regression model. Results: Of the 596 adult patients with CVT (75.7% women), 53 (8.9%) patients suffered coma. Despite being a female-predominant disease, the prevalence of coma was higher among men than women (13.1% vs. 7.5%, p = 0.04). Transverse sinus thrombosis was least likely to be associated with coma (23.9% vs. 73.3%, p < 0.001). The prevalence of superior sagittal sinus thrombosis was higher among men than women in the coma sample (73.6% vs. 37.5%, p = 0.01). Men were significantly older than women, with a median (interquartile range) age of 51 (38.5-60) versus 40 (33-47) years in the coma (p = 0.04) and 44.5 (34-58) versus 37 (29-48) years in the non-coma sample (p < 0.001), respectively. Furthermore, an age- and superior sagittal sinus-adjusted multivariate logistic regression model found male sex (odds ratio = 1.8, 95% confidence interval [CI] = 1.0-3.4, p = 0.04) to be an independent predictor of coma in CVT, with an area under the receiver operating characteristic curve of 0.61 (95% CI = 0.52-0.68, p = 0.01). Conclusions: Although CVT is a female-predominant disease, men were older and nearly twice as likely to suffer from coma than women.
|
|
42. |
- Rannikmaee, Kristiina, et al.
(author)
-
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease
- 2015
-
In: Neurology. - 1526-632X. ; 84:9, s. 918-926
-
Journal article (peer-reviewed)abstract
- Objectives:We hypothesized that common variants in the collagen genes COL4A1/COL4A2 are associated with sporadic forms of cerebral small vessel disease.Methods:We conducted meta-analyses of existing genotype data among individuals of European ancestry to determine associations of 1,070 common single nucleotide polymorphisms (SNPs) in the COL4A1/COL4A2 genomic region with the following: intracerebral hemorrhage and its subtypes (deep, lobar) (1,545 cases, 1,485 controls); ischemic stroke and its subtypes (cardioembolic, large vessel disease, lacunar) (12,389 cases, 62,004 controls); and white matter hyperintensities (2,733 individuals with ischemic stroke and 9,361 from population-based cohorts with brain MRI data). We calculated a statistical significance threshold that accounted for multiple testing and linkage disequilibrium between SNPs (p < 0.000084).Results:Three intronic SNPs in COL4A2 were significantly associated with deep intracerebral hemorrhage (lead SNP odds ratio [OR] 1.29, 95% confidence interval [CI] 1.14-1.46, p = 0.00003; r(2) > 0.9 between SNPs). Although SNPs associated with deep intracerebral hemorrhage did not reach our significance threshold for association with lacunar ischemic stroke (lead SNP OR 1.10, 95% CI 1.03-1.18, p = 0.0073), and with white matter hyperintensity volume in symptomatic ischemic stroke patients (lead SNP OR 1.07, 95% CI 1.01-1.13, p = 0.016), the direction of association was the same. There was no convincing evidence of association with white matter hyperintensities in population-based studies or with non-small vessel disease cerebrovascular phenotypes.Conclusions:Our results indicate an association between common variation in the COL4A2 gene and symptomatic small vessel disease, particularly deep intracerebral hemorrhage. These findings merit replication studies, including in ethnic groups of non-European ancestry.
|
|
43. |
- Sharma, Pankaj, et al.
(author)
-
Big data collection and analysis for manufacturing organisations
- 2017
-
In: Big Data and Information Analytics. - : American Institute of Mathematical Sciences. - 2380-6966 .- 2380-6974. ; 2:2, s. 127-139
-
Journal article (peer-reviewed)abstract
- Data mining applications are becoming increasingly important for the wide range of manufacturing and maintenance processes. During daily operations, large amounts of data are generated. This large volume and variety of data, arriving at a greater velocity has its own advantages and disadvantages. On the negative side, the abundance of data often impedes the ability to extract useful knowledge. In addition, the large amounts of data stored in often unconnected databases make it impractical to manually analyse for valuable decision-making information. However, an advent of new generation big data analytical tools has started to provide large scale benefits for the organizations. The paper examines the possible data inputs from machines, people and organizations that can be analysed for maintenance. Further, the role of big data within maintenance is explained and how, if not managed correctly, big data can create problems rather than provide solutions. The paper highlights the need to have advanced mining techniques to enable conversion of data into information in an acceptable time frame and to have modern analytical tools to extract value from the big datasets.
|
|
44. |
|
|
45. |
- Soam, Shveta, 1987-, et al.
(author)
-
Life cycle assessment of fuel ethanol from sugarcane molasses in northern and western India and its impact on Indian biofuel programme
- 2015
-
In: Energy Journal. - : Elsevier BV. - 0195-6574 .- 1944-9089. ; 83, s. 307-315
-
Journal article (peer-reviewed)abstract
- India's biofuel programme relies on the ethanol from molasses for blending into gasoline. Therefore, quantification of GHG (green house gas) emissions and the energy consumed during the process of ethanol production is desirable to help policy makers to take meaningful decisions. In order to establish the environmental impact of the biofuels, LCA (life cycle assessment) is conducted for 1 ton of fuel grade ethanol in the NR (northern region) and WR (western region) of India. Four different allocation approaches, WA (without any allocation), MA (mass allocation), EA (energy allocation) and MPA (market price allocation) are used to distribute emissions and energy consumption between the product and the co-products. Total GHG emissions are from 543.3 (−75.9%) to 8219.8 kg CO2-eq. (262.7%) in NR and 552.0 (−75.8%) to 7382.4 kg CO2-eq. (225.6%) with respect to gasoline. Similarly, the NER (net energy ratio) also varies with different allocation approaches and ranged from 0.38 to 3.39 in the NR and 0.48 to 4.23 in WR. Using MA approach, maximum GHG emissions reduction are, −75.9 and −75.8% and NER, 3.39 and 4.23 in NR and WR respectively indicates the environment and net energy benefits of fuel ethanol. It is observed that MA and EA approaches give more acceptable and real life results.
|
|
46. |
- Soam, Shveta, 1987-, et al.
(author)
-
Life cycle assessment of rice straw utilization practices in India
- 2017
-
In: Bioresource Technology. - : Elsevier BV. - 0960-8524 .- 1873-2976. ; 228, s. 89-98
-
Journal article (peer-reviewed)abstract
- The aim of this study is to find potential utilization practice of rice straw in India from an environmental perspective. Life cycle assessment (LCA) is conducted for four most realistic utilization practices of straw including: (1) incorporation into the field as fertilizer (2) animal fodder (3) electricity (4) biogas. The results show that processing of 1 ton straw to electricity and biogas resulted in net reduction of 1471 and 1023 kg CO2 eq., 15.0 and 3.4 kg SO2 eq. and 6.7 and 7.1 kg C2H6 eq. emissions in global warming, acidification and photochemical oxidation creation potential respectively. Electricity production from straw replaces the coal based electricity and resulted in benefits in most of the environmental impacts whereas use as an animal fodder resulted in eutrophication benefits. The burning of straw is a harmful practice of managing straw in India which can be avoided by utilizing straw for bioenergy.
|
|
47. |
- Traylor, Matthew, et al.
(author)
-
A Novel MMP12 Locus Is Associated with Large Artery Atherosclerotic Stroke Using a Genome-Wide Age-at-Onset Informed Approach.
- 2014
-
In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:7
-
Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have begun to identify the common genetic component to ischaemic stroke (IS). However, IS has considerable phenotypic heterogeneity. Where clinical covariates explain a large fraction of disease risk, covariate informed designs can increase power to detect associations. As prevalence rates in IS are markedly affected by age, and younger onset cases may have higher genetic predisposition, we investigated whether an age-at-onset informed approach could detect novel associations with IS and its subtypes; cardioembolic (CE), large artery atherosclerosis (LAA) and small vessel disease (SVD) in 6,778 cases of European ancestry and 12,095 ancestry-matched controls. Regression analysis to identify SNP associations was performed on posterior liabilities after conditioning on age-at-onset and affection status. We sought further evidence of an association with LAA in 1,881 cases and 50,817 controls, and examined mRNA expression levels of the nearby genes in atherosclerotic carotid artery plaques. Secondly, we performed permutation analyses to evaluate the extent to which age-at-onset informed analysis improves significance for novel loci. We identified a novel association with an MMP12 locus in LAA (rs660599; p = 2.5×10-7), with independent replication in a second population (p = 0.0048, OR(95% CI) = 1.18(1.05-1.32); meta-analysis p = 2.6×10-8). The nearby gene, MMP12, was significantly overexpressed in carotid plaques compared to atherosclerosis-free control arteries (p = 1.2×10-15; fold change = 335.6). Permutation analyses demonstrated improved significance for associations when accounting for age-at-onset in all four stroke phenotypes (p<0.001). Our results show that a covariate-informed design, by adjusting for age-at-onset of stroke, can detect variants not identified by conventional GWAS.
|
|
48. |
- Traylor, Matthew, et al.
(author)
-
Genetic basis of lacunar stroke : a pooled analysis of individual patient data and genome-wide association studies
- 2021
-
In: The Lancet Neurology. - 1474-4422. ; 20:5, s. 351-361
-
Journal article (peer-reviewed)abstract
- Background: The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide mechanistic insights into the disease. Methods: We did a pooled analysis of data from newly recruited patients with an MRI-confirmed diagnosis of lacunar stroke and existing genome-wide association studies (GWAS). Patients were recruited from hospitals in the UK as part of the UK DNA Lacunar Stroke studies 1 and 2 and from collaborators within the International Stroke Genetics Consortium. Cases and controls were stratified by ancestry and two meta-analyses were done: a European ancestry analysis, and a transethnic analysis that included all ancestry groups. We also did a multi-trait analysis of GWAS, in a joint analysis with a study of cerebral white matter hyperintensities (an aetiologically related radiological trait), to find additional genetic associations. We did a transcriptome-wide association study (TWAS) to detect genes for which expression is associated with lacunar stroke; identified significantly enriched pathways using multi-marker analysis of genomic annotation; and evaluated cardiovascular risk factors causally associated with the disease using mendelian randomisation. Findings: Our meta-analysis comprised studies from Europe, the USA, and Australia, including 7338 cases and 254 798 controls, of which 2987 cases (matched with 29 540 controls) were confirmed using MRI. Five loci (ICA1L-WDR12-CARF-NBEAL1, ULK4, SPI1-SLC39A13-PSMC3-RAPSN, ZCCHC14, ZBTB14-EPB41L3) were found to be associated with lacunar stroke in the European or transethnic meta-analyses. A further seven loci (SLC25A44-PMF1-BGLAP, LOX-ZNF474-LOC100505841, FOXF2-FOXQ1, VTA1-GPR126, SH3PXD2A, HTRA1-ARMS2, COL4A2) were found to be associated in the multi-trait analysis with cerebral white matter hyperintensities (n=42 310). Two of the identified loci contain genes (COL4A2 and HTRA1) that are involved in monogenic lacunar stroke. The TWAS identified associations between the expression of six genes (SCL25A44, ULK4, CARF, FAM117B, ICA1L, NBEAL1) and lacunar stroke. Pathway analyses implicated disruption of the extracellular matrix, phosphatidylinositol 5 phosphate binding, and roundabout binding (false discovery rate <0·05). Mendelian randomisation analyses identified positive associations of elevated blood pressure, history of smoking, and type 2 diabetes with lacunar stroke. Interpretation: Lacunar stroke has a substantial heritable component, with 12 loci now identified that could represent future treatment targets. These loci provide insights into lacunar stroke pathogenesis, highlighting disruption of the vascular extracellular matrix (COL4A2, LOX, SH3PXD2A, GPR126, HTRA1), pericyte differentiation (FOXF2, GPR126), TGF-β signalling (HTRA1), and myelination (ULK4, GPR126) in disease risk. Funding: British Heart Foundation.
|
|
49. |
- Traylor, Matthew, et al.
(author)
-
Genetic Variation at 16q24.2 is associated with small vessel stroke.
- 2017
-
In: Annals of neurology. - : Wiley. - 1531-8249 .- 0364-5134. ; 81:3, s. 383-394
-
Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises a quarter of all ischaemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown younger onset cases have an increased genetic burden. We leveraged this increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a large younger onset SVS population, to identify novel associations with stroke.We used a three-stage age-at-onset informed GWAS to identify novel genetic variants associated with stroke. On identifying a novel locus associated with SVS, we assessed its influence on other small vessel disease phenotypes, as well as on mRNA expression of nearby genes, and on DNA methylation of nearby CpG sites in whole blood and in the fetal brain.We identified an association with SVS in 4,203 cases and 50,728 controls on chromosome 16q24.2 (OR(95% CI)=1.16(1.10-1.22); p=3.2x10(-9) ). The lead SNP (rs12445022) was also associated with cerebral white matter hyperintensities (OR(95% CI)=1.10(1.05-1.16); p=5.3x10(-5) ; N=3,670), but not intracerebral haemorrhage (OR(95% CI)=0.97(0.84-1.12); p=0.71; 1,545 cases, 1,481 controls). rs12445022 is associated with mRNA expression of ZCCHC14 in arterial tissues (p=9.4x10(-7) ), and DNA methylation at probe cg16596957 in whole blood (p=5.3x10(-6) ).16q24.2 is associated with SVS. Associations of the locus with expression of ZCCHC14 and DNA methylation suggest the locus acts through changes to regulatory elements. This article is protected by copyright. All rights reserved.
|
|
50. |
- Williams, Frances M. K., et al.
(author)
-
Ischemic stroke is associated with the ABO locus : the EuroCLOT study
- 2013
-
In: Annals of Neurology. - : Wiley-Blackwell. - 0364-5134 .- 1531-8249. ; 73:1, s. 16-31
-
Journal article (peer-reviewed)abstract
- Objective: End-stage coagulation and the structure/function of fibrin are implicated in the pathogenesis of ischemic stroke. We explored whether genetic variants associated with end-stage coagulation in healthy volunteers account for the genetic predisposition to ischemic stroke and examined their influence on stroke subtype. Methods: Common genetic variants identified through genome-wide association studies of coagulation factors and fibrin structure/function in healthy twins (n = 2,100, Stage 1) were examined in ischemic stroke (n = 4,200 cases) using 2 independent samples of European ancestry (Stage 2). A third clinical collection having stroke subtyping (total 8,900 cases, 55,000 controls) was used for replication (Stage 3). Results: Stage 1 identified 524 single nucleotide polymorphisms (SNPs) from 23 linkage disequilibrium blocks having significant association (p < 5 x 10(-8)) with 1 or more coagulation/fibrin phenotypes. The most striking associations included SNP rs5985 with factor XIII activity (p = 2.6 x 10(-186)), rs10665 with FVII (p = 2.4 x 10(-47)), and rs505922 in the ABO gene with both von Willebrand factor (p = 4.7 x 10(-57)) and factor VIII (p = 1.2 x 10(-36)). In Stage 2, the 23 independent SNPs were examined in stroke cases/noncases using MOnica Risk, Genetics, Archiving and Monograph (MORGAM) and Wellcome Trust Case Control Consortium 2 collections. SNP rs505922 was nominally associated with ischemic stroke (odds ratio = 0.94, 95% confidence interval = 0.88-0.99, p = 0.023). Independent replication in Meta-Stroke confirmed the rs505922 association with stroke, beta (standard error, SE) = 0.066 (0.02), p = 0.001, a finding specific to large-vessel and cardioembolic stroke (p = 0.001 and p = < 0.001, respectively) but not seen with small-vessel stroke (p = 0.811). Interpretation: ABO gene variants are associated with large-vessel and cardioembolic stroke but not small-vessel disease. This work sheds light on the different pathogenic mechanisms underpinning stroke subtype.
|
|