Autor: Tesi, Michelangelo - Prolib Integro

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Tytuł:: Ontology-based integration and querying of heterogeneous rare disease data sources : POLVAS perspective
Autorzy:: Little, Mark A.
Wójcik, Krzysztof
Gisslander, Karl
Strug, Barbara
O’Sullivan, Declan
Lichołai, Sabina
Ślusarczyk, Grażyna
Palacz, Wojciech
Musiał, Jacek
Yaman, Beyza
Tesi, Michelangelo
Vaglio, Augusto
Emmi, Giacomo
Wawrzycka-Adamczyk, Katarzyna
Dostawca treści:: Repozytorium Uniwersytetu Jagiellońskiego

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Tytuł:: Data quality and patient characteristics in European ANCA-associated vasculitis registries : data retrieval by federated querying
Autorzy:: Wójcik, Krzysztof
Mohammad, Aladdin J
Gisslander, Karl
Lamprecht, Peter
Lichołai, Sabina
Rutherford, Matthew
Basu, Neil
O’Sullivan, Declan
Little, Mark A
Tesi, Michelangelo
Yaman, Beyza
Hruskova, Zdenka
Wandrei, Dagmar
Hederman, Lucy
Terrier, Benjamin
Dradin, François
Aslett, Louis
Segelmark, Mårten
Straka, Richard
Tesar, Vladimir
Musiał, Jacek
Scott, Jennifer
Kardaoui, Hicham
Puechal, Xavier
Vaglio, Augusto
White, Arthur
Opis:: 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.
Dostawca treści:: Repozytorium Uniwersytetu Jagiellońskiego

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