| 1. |
- Romagnoni, A, et al.
(författare)
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Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10351-
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Tidskriftsartikel (refereegranskat)abstract
- Crohn Disease (CD) is a complex genetic disorder for which more than 140 genes have been identified using genome wide association studies (GWAS). However, the genetic architecture of the trait remains largely unknown. The recent development of machine learning (ML) approaches incited us to apply them to classify healthy and diseased people according to their genomic information. The Immunochip dataset containing 18,227 CD patients and 34,050 healthy controls enrolled and genotyped by the international Inflammatory Bowel Disease genetic consortium (IIBDGC) has been re-analyzed using a set of ML methods: penalized logistic regression (LR), gradient boosted trees (GBT) and artificial neural networks (NN). The main score used to compare the methods was the Area Under the ROC Curve (AUC) statistics. The impact of quality control (QC), imputing and coding methods on LR results showed that QC methods and imputation of missing genotypes may artificially increase the scores. At the opposite, neither the patient/control ratio nor marker preselection or coding strategies significantly affected the results. LR methods, including Lasso, Ridge and ElasticNet provided similar results with a maximum AUC of 0.80. GBT methods like XGBoost, LightGBM and CatBoost, together with dense NN with one or more hidden layers, provided similar AUC values, suggesting limited epistatic effects in the genetic architecture of the trait. ML methods detected near all the genetic variants previously identified by GWAS among the best predictors plus additional predictors with lower effects. The robustness and complementarity of the different methods are also studied. Compared to LR, non-linear models such as GBT or NN may provide robust complementary approaches to identify and classify genetic markers.
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| 2. |
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| 3. |
- Momozawa, Y, et al.
(författare)
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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
- 2018
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1, s. 2427-
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Tidskriftsartikel (refereegranskat)abstract
- GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 candidate genes in 6600 Crohn disease (CD) cases and 5500 controls, and show with burden tests that they include likely causative genes. Our analyses indicate that ≥10-fold larger sample sizes will be required to demonstrate the causality of individual genes using this approach.
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| 4. |
- Bousquet, J. Jean, et al.
(författare)
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Next-generation ARIA care pathways for rhinitis and asthma : a model for multimorbid chronic diseases
- 2019
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Ingår i: Clinical and Translational Allergy. - : BMC. - 2045-7022. ; 9
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Forskningsöversikt (refereegranskat)abstract
- Background: In all societies, the burden and cost of allergic and chronic respiratory diseases are increasing rapidly. Most economies are struggling to deliver modern health care effectively. There is a need to support the transformation of the health care system into integrated care with organizational health literacy.Main body: As an example for chronic disease care, MASK (Mobile Airways Sentinel NetworK), a new project of the ARIA (Allergic Rhinitis and its Impact on Asthma) initiative, and POLLAR (Impact of Air POLLution on Asthma and Rhinitis, EIT Health), in collaboration with professional and patient organizations in the field of allergy and airway diseases, are proposing real-life ICPs centred around the patient with rhinitis, and using mHealth to monitor environmental exposure. Three aspects of care pathways are being developed: (i) Patient participation, health literacy and self-care through technology-assisted "patient activation", (ii) Implementation of care pathways by pharmacists and (iii) Next-generation guidelines assessing the recommendations of GRADE guidelines in rhinitis and asthma using real-world evidence (RWE) obtained through mobile technology. The EU and global political agendas are of great importance in supporting the digital transformation of health and care, and MASK has been recognized by DG Sante as a Good Practice in the field of digitally-enabled, integrated, person-centred care.Conclusion: In 20 years, ARIA has considerably evolved from the first multimorbidity guideline in respiratory diseases to the digital transformation of health and care with a strong political involvement.
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| 5. |
- Gardulf, A, et al.
(författare)
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The Nurse Professional Competence (NPC) Scale: A tool that can be used in national and international assessments of nursing education programmes.
- 2019
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Ingår i: Nordic Journal of Nursing Research. - : SAGE Publications. - 2057-1585 .- 2057-1593. ; 39:3, s. 137-42
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Tidskriftsartikel (refereegranskat)abstract
- Abstract The quality of basic nursing bachelor programmes nationally and internationally must regularly be assessed to ensure that they fulfil requirements and are appropriate in relation to developments and changes in societies and healthcare systems. There is a need for instruments in helping to assess this. The aim of this study was to investigate whether the Nurse Professional Competence (NPC) Scale could serve as a tool to measure and detect possible differences between universities/university colleges regarding nursing students’ self-reported competence. Totally, 543 nursing students who had just completed their academic three-year nursing bachelor programmes at 10 universities/university colleges in Sweden participated in the study (response rate 71%). The students answered the NPC Scale with its 88 items constituting eight competence areas (CAs) and two overarching themes. The results from using the NPC Scale by the students were then compared between the 10 universities/university colleges. Significant mean score differences were found between the universities/university colleges on all CAs and on both themes. The highest mean score differences were found for the CAs ‘Medical and technical care’ and ‘Documentation and information technology’. The lowest mean score differences were found for the CAs ‘Value-based nursing care’ and ‘Leadership in and development of nursing’. It is concluded that the NPC Scale can serve as a useful tool in national and international assessments of nursing bachelor programmes.
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| 6. |
- Berg, Lena M, et al.
(författare)
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Factors influencing clinicians' perceptions of interruptions as disturbing or non-disturbing : a qualitative study
- 2016
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Ingår i: International Emergency Nursing. - : Elsevier. - 1755-599X .- 1878-013X. ; 27, s. 11-16
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Emergency departments consist of multiple systems requiring interaction with one another while still being able to operate independently, creating frequent interruptions in the clinical workflow. Most research on interruptions in health care settings has focused on the relationship between interruptions and negative outcomes. However, there are indications that not all interruptions are negatively perceived by those being interrupted. Therefore, this study aimed to explore factors that influence when a clinician perceives interruptions as non-disturbing or disturbing in an emergency department context.METHOD: Explorative design based on interviews with 10 physicians and 10 registered nurses at two Swedish emergency departments. Data were analyzed using qualitative content analysis.RESULT: Factors influencing whether emergency department clinicians perceived interruptions as non-disturbing or disturbing were identified: clinician's constitution, external factors of influence and the nature of the interrupted task. The clinicians' perceptions were related to a complex of attributes inherent in these three factors at the time of the interruption. Thus, the same type of interruption could be perceived as either non-disturbing or disturbing contingent on the surrounding circumstances in which the event occurred.CONCLUSION: Emergency department clinicians' perceptions of interruptions as non-disturbing or disturbing were related to the character of identified influencing factors.
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| 7. |
- Pascual, Unai, et al.
(författare)
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Valuing nature's contributions to people : the IPBES approach
- 2017
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Ingår i: Current Opinion in Environmental Sustainability. - : Elsevier BV. - 1877-3435. ; 26-27, s. 7-16
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Forskningsöversikt (refereegranskat)abstract
- Nature is perceived and valued in starkly different and often conflicting ways. This paper presents the rationale for the inclusive valuation of nature's contributions to people (NCP) in decision making, as well as broad methodological steps for doing so. While developed within the context of the Intergovernmental Platform on Biodiversity and Ecosystem Services (IPBES), this approach is more widely applicable to initiatives at the knowledge–policy interface, which require a pluralistic approach to recognizing the diversity of values. We argue that transformative practices aiming at sustainable futures would benefit from embracing such diversity, which require recognizing and addressing power relationships across stakeholder groups that hold different values on human nature-relations and NCP.
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