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- Auffray, Charles, et al.
(författare)
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Making sense of big data in health research: Towards an EU action plan
- 2016
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Ingår i: Genome Medicine. - : BIOMED CENTRAL LTD. - 1756-994X. ; 8:71
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Tidskriftsartikel (refereegranskat)abstract
- Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health arid healthcare for all Europearis.
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- Comendeiro-Maaløe, Micaela, et al.
(författare)
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Acknowledging the role of patient heterogeneity in hospital outcome reporting : Mortality after acute myocardial infarction in five European countries
- 2020
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 15:2, s. 0228425-0228425
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Hospital performance, presented as the comparison of average measurements, dismisses that hospital outcomes may vary across types of patients. We aim at drawing out the relevance of accounting for patient heterogeneity when reporting on hospital performance.METHODS: An observational study on administrative data from virtually all 2009 hospital admissions for Acute Myocardial Infarction (AMI) discharged in Denmark, Portugal, Slovenia, Spain, and Sweden. Hospital performance was proxied using in-hospital risk-adjusted mortality. Multilevel Regression Modelling (MLRM) was used to assess differences in hospital performance, comparing the estimates of random intercept modelling (capturing hospital general contextual effects (GCE)), and random slope modelling (capturing hospital contextual effects for patients with and without congestive heart failure -CHF). The weighted Kappa Index (KI) was used to assess the agreement between performance estimates.RESULTS: We analysed 46,875 admissions of AMI, 6,314 with coexistent CHF, discharged from 107 hospitals. The overall in-hospital mortality rate was 5.2%, ranging from 4% in Sweden to 6.9% in Portugal. The MLRM with random slope outperformed the model with only random intercept, highlighting a much higher GCE in CHF patients [VPC = 8.34 (CI95% 4.94 to 13.03) and MOR = 1.69 (CI95% 1.62 to 2.21) vs. VPC = 3.9 (CI95% 2.4 to 5.9), MOR of 1.42 (CI95% 1.31 to 1.54) without CHF]. No agreement was observed between estimates [KI = -0,02 (CI95% -0,08 to 0.04].CONCLUSIONS: The different GCE in AMI patients with and without CHF, along with the lack of agreement in estimates, suggests that accounting for patient heterogeneity is required to adequately characterize and report on hospital performance.
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- Delgado-Vega, Angélica M., et al.
(författare)
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Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein
- 2012
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 71:7, s. 1219-1226
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Tidskriftsartikel (refereegranskat)abstract
- ObjectivesTo perform fine mapping of the autoimmunity susceptibility gene BLK and identify functional variants involved in systemic lupus erythematosus (SLE).MethodsGenotyping of 1163 European SLE patients and 1482 controls and imputation were performed covering the BLK gene with 158 single-nucleotide polymorphisms. Logistic regression analysis was done using PLINK and conditional analyses using GENABEL's test score. Transfections of BLK constructs on HEK293 cells containing the novel mutation or the wild type form were analysed for their effect on protein half-life using a protein stability assay, cycloheximide and western blot. CHiP-qPCR for detection of nuclear factor. B (NFkB) binding.ResultsFine mapping of BLK identified two independent genetic effects with functional consequences: one represented by two tightly linked associated haplotype blocks significantly enriched for NF kappa B-binding sites and numerous putative regulatory variants whose risk alleles correlated with low BLK mRNA levels. Binding of NFkBp50 and p65 to an associated 1.2 Kb haplotype segment was confirmed. A second independent genetic effect was represented by an Ala71Thr, low-frequency missense substitution with an OR = 2.31 (95% CI 1.38 to 3.86). The 71Thr decreased BLK protein half-life.ConclusionsThese results show that rare and common regulatory variants in BLK are involved in disease susceptibility and both, albeit independently, lead to reduced levels of BLK protein.
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| 5. |
- Librero, Julian, et al.
(författare)
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Timing of surgery for hip fracture and in-hospital mortality: a retrospective population-based cohort study in the Spanish National Health System
- 2012
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Ingår i: BMC Health Services Research. - : Springer Science and Business Media LLC. - 1472-6963. ; 12:15
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Tidskriftsartikel (refereegranskat)abstract
- Background: While the benefits or otherwise of early hip fracture repair is a long-running controversy with studies showing contradictory results, this practice is being adopted as a quality indicator in several health care organizations. The aim of this study is to analyze the association between early hip fracture repair and in-hospital mortality in elderly people attending public hospitals in the Spanish National Health System and, additionally, to explore factors associated with the decision to perform early hip fracture repair. Methods: A cohort of 56,500 patients of 60-years-old and over, hospitalized for hip fracture during the period 2002 to 2005 in all the public hospitals in 8 Spanish regions, were followed up using administrative databases to identify the time to surgical repair and in-hospital mortality. We used a multivariate logistic regression model to analyze the relationship between the timing of surgery (< 2 days from admission) and in-hospital mortality, controlling for several confounding factors. Results: Early surgery was performed on 25% of the patients. In the unadjusted analysis early surgery showed an absolute difference in risk of mortality of 0.57 (from 4.42% to 3.85%). However, patients undergoing delayed surgery were older and had higher comorbidity and severity of illness. Timeliness for surgery was not found to be related to in-hospital mortality once confounding factors such as age, sex, chronic comorbidities as well as the severity of illness were controlled for in the multivariate analysis. Conclusions: Older age, male gender, higher chronic comorbidity and higher severity measured by the Risk Mortality Index were associated with higher mortality, but the time to surgery was not.
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