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- Gisslander, Karl, et al.
(författare)
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Can active sun exposure decrease the risk of giant cell arteritis and polymyalgia rheumatica in women?
- 2023
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Ingår i: Rheumatology Advances in Practice. - 2514-1775. ; 7:3
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Tidskriftsartikel (refereegranskat)abstract
- ObjectivesTo study if active sun exposure among women affects the risk of developing GCA or PMR in a prospective cohort study with restricted latitudinal variability.MethodsWe linked the response to questions relating to sun exposure from the Melanoma Inquiry in Southern Sweden (MISS) prospective cohort study in women to the risk of developing GCA or PMR. Healthcare data were gathered from the Skåne Healthcare Register (SHR), covering all public healthcare consultations. The direct effect of active sun exposure on the risk of developing GCA or PMR was assessed using Cox proportional hazards models adjusted for covariates based on a directed acyclic graph.ResultsA total of 14 574 women were included in the study; 601 women were diagnosed with GCA or PMR (144 and 457, respectively) during the follow-up time. Women with moderate or high sun exposure were not less likely to develop GCA or PMR compared with women that indicated they avoided sun exposure [hazard ratio (HR) 1.2 (CI 0.9, 1.6) and 1.3 (0.9, 1.9), respectively] when adjusted for diabetes, hyperlipidaemia, hypertension, smoking, obesity and stratified by age. Similar patterns were observed when studying only GCA [HR 1.2 (CI 0.7, 2.3) and 1.3 (0.7, 2.6)] and only PMR [HR 1.3 (CI 0.9, 1.8) and 1.4 (0.9, 2.0)].ConclusionActive sun exposure did not affect the risk of developing GCA or PMR in women in a cohort with restricted latitudinal variability.
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- Gisslander, Karl, et al.
(författare)
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Data quality and patient characteristics in European ANCA-associated vasculitis registries : data retrieval by federated querying
- 2023
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Ingår i: Annals of the Rheumatic Diseases. - 0003-4967. ; 83:1, s. 112-120
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Tidskriftsartikel (refereegranskat)abstract
- Objectives This study aims to describe the data structure and harmonisation process, explore data quality and define characteristics, treatment, and outcomes of patients across six federated antineutrophil cytoplasmic antibody-associated vasculitis (AAV) registries. Methods Through creation of the vasculitis-specific Findable, Accessible, Interoperable, Reusable, VASCulitis ontology, we harmonised the registries and enabled semantic interoperability. We assessed data quality across the domains of uniqueness, consistency, completeness and correctness. Aggregated data were retrieved using the semantic query language SPARQL Protocol and Resource Description Framework Query Language (SPARQL) and outcome rates were assessed through random effects meta-analysis. Results A total of 5282 cases of AAV were identified. Uniqueness and data-type consistency were 100% across all assessed variables. Completeness and correctness varied from 49%-100% to 60%-100%, respectively. There were 2754 (52.1%) cases classified as granulomatosis with polyangiitis (GPA), 1580 (29.9%) as microscopic polyangiitis and 937 (17.7%) as eosinophilic GPA. The pattern of organ involvement included: lung in 3281 (65.1%), ear-nose-throat in 2860 (56.7%) and kidney in 2534 (50.2%). Intravenous cyclophosphamide was used as remission induction therapy in 982 (50.7%), rituximab in 505 (17.7%) and pulsed intravenous glucocorticoid use was highly variable (11%-91%). Overall mortality and incidence rates of end-stage kidney disease were 28.8 (95% CI 19.7 to 42.2) and 24.8 (95% CI 19.7 to 31.1) per 1000 patient-years, respectively. Conclusions In the largest reported AAV cohort-study, we federated patient registries using semantic web technologies and highlighted concerns about data quality. The comparison of patient characteristics, treatment and outcomes was hampered by heterogeneous recruitment settings.
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- Gisslander, Karl, et al.
(författare)
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Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective
- 2023
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Ingår i: Orphanet Journal of Rare Diseases. - 1750-1172. ; 18, s. 1-3
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Tidskriftsartikel (refereegranskat)abstract
- The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare disease experts, leading to limited involvement by domain expertise in the data integration process. Here, we propose a data integration framework starting from the perspective of the clinical researcher, allowing for purposeful rare disease registry integration driven by clinical research questions.
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- Gisslander, Karl, et al.
(författare)
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The Role of Sural Nerve Biopsy in the Diagnosis of Vasculitis
- 2022
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Ingår i: Journal of Rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 49:9, s. 1031-1036
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Tidskriftsartikel (refereegranskat)abstract
- Objective. The diagnostic yield of sural nerve biopsy (SNB) in vasculitis is uncertain. Our aim was to document relevant characteristics of patients undergoing SNB in the investigation of vasculitis; determine the diagnostic yield; relate positive biopsy findings to patient demographic, laboratory, and clinical variables; and to calculate the rate of surgical complications. Methods. Patients with suspected vasculitis that underwent SNB as part of diagnostic evaluation at academic medical centers in Sweden and the United Kingdom were identified by searching local pathology databases and clinic registers. A structured review of medical case records and pathology reports was conducted. Histological findings were categorized as definite, probable, or no vasculitis in accordance with the 2015 Brighton Collaboration reinterpretation and update of the Peripheral Nerve Society guidelines for vasculitic neuropathy. Definite and probable findings were considered positive for vasculitis. Results. Ninety-one patients that underwent SNB were identified (45% female). Forty (44%) patients showed histological evidence of vasculitis: 14 definite and 26 probable. A concomitant muscle biopsy conducted in 10 patients did not contribute to the diagnostic yield. Positive antineutrophil cytoplasmic antibody test, organ involvement other than the nervous system, and a longer biopsy sample were associated with a positive biopsy. The reported surgical complication rate was 15%. Conclusion. SNB of sufficient length is a useful procedure to confirm a diagnosis of vasculitis.
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- McGlinn, Kris, et al.
(författare)
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FAIRVASC: A semantic web approach to rare disease registry integration
- 2022
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Ingår i: Computers in Biology and Medicine. - : Elsevier BV. - 0010-4825. ; 145
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Tidskriftsartikel (refereegranskat)abstract
- Rare disease data is often fragmented within multiple heterogeneous siloed regional disease registries, each containing a small number of cases. These data are particularly sensitive, as low subject counts make the identification of patients more likely, meaning registries are not inclined to share subject level data outside their registries. At the same time access to multiple rare disease datasets is important as it will lead to new research opportunities and analysis over larger cohorts. To enable this, two major challenges must therefore be overcome. The first is to integrate data at a semantic level, so that it is possible to query over registries and return results which are comparable. The second is to enable queries which do not take subject level data from the registries. To meet the first challenge, this paper presents the FAIRVASC ontology to manage data related to the rare disease anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV), which is based on the harmonisation of terms in seven European data registries. It has been built upon a set of key clinical questions developed by a team of experts in vasculitis selected from the registry sites and makes use of several standard classifications, such as Systematized Nomenclature of Medicine - Clinical Terms (SNOMED-CT) and Orphacode. It also presents the method for adding semantic meaning to AAV data across the registries using the declarative Relational to Resource Description Framework Mapping Language (R2RML). To meet the second challenge a federated querying approach is presented for accessing aggregated and pseudonymized data, and which supports analysis of AAV data in a manner which protects patient privacy. For additional security the federated querying approach is augmented with a method for auditing queries (and the uplift process) using the provenance ontology (PROV-O) to track when queries and changes occur and by whom. The main contribution of this work is the successful application of semantic web technologies and federated queries to provide a novel infrastructure that can readily incorporate additional registries, thus providing access to harmonised data relating to unprecedented numbers of patients with rare disease, while also meeting data privacy and security concerns.
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