Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD
Event: WORLDSymposium 2024 San Diego, USA Authors: M. Domenica Cappellini, R. Giugliani, M. Törnqvist, P. Guilmin, C.Clémente, M. Montmerle, A. Chiorean, T. Reppelin, Stefaan Sansen, Alexandra Dumitriu, Neha Shah, Maja Gasparic View Poster Abstract Acid sphingomyelinase deficiency (ASMD) is a rare and debilitating lysosomal storage disease and delays in diagnosis are common. We employed machine learning (ML) on electronic health […]
Machine learned decision tree for diagnosis of ASMD among patients with unexplained Interstitial Lung Disease
Event: European Respiratory Society (ERS) International Congress 2023, Milan, Italy Authors: I. Noth, F. Bonella, W.A. Wuyts,P. Guilmin, M. Törnqvist, S. Sansen, A. Dumitriu, N. Shah, M. Gasparic, M. Montmerle View Poster Background Patients with acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, suffer interstitial lung disease (ILD) as a common clinical manifestation. Patients […]
Development of a rare disease algorithm to identify persons at risk of Gaucher disease using Electronic Health Records (EHR) in the United States
Publisher: Orphanet Journal of Rare DiseasesAuthors: A. Wilson, A. Chiorean, M. Aguiar, D. Sekulic, P. Pavlick, N. Shah, L. Sniderman King, M. Génin, M. Rollot, M. Blanchon, S. Gosset, M. Montmerle, C. Molony, A. Dumitriu View publication Background Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, […]
Estimating the pertussis burden in adolescents and adults in the United States between 2007 and 2019
Publisher: Taylor & Francis OnlineAuthors: D. Macina, S. Mathur, M. Dvaretskaya, S. Ekhtiari, P. Hayat, M. Montmerle, C.Daluwatte View publication Objectives We developed a machine learning algorithm to identify undiagnosed pertussis episodes in adolescent and adult patients with reported acute respiratory disease (ARD) using clinician notes in an electronic healthcare record (EHR) database. Here, we utilized the algorithm to […]
Development of an algorithm for finding pertussis episodes in a population-based electronic health record database
Publisher: Taylor & Francis OnlineAuthors: C. Daluwatte, M. Dvaretskaya, S. Ekhtiari, P. Hayat, M. Montmerle, S. Mathur, D. Macina View publication Background While tetanus-diphtheria-acellular pertussis (Tdap) vaccines for adolescents and adults were licensed in 2005 and immunization strategies proposed, the burden of pertussis in this population remains under-recognized mainly due to atypical disease presentation, undermining efforts to optimize protection […]
Identifying patients with Gaucher Disease type 3 (GD3) in the Optum’s de-identified Market Clarity database: a clustering analysis
Event: WORLD Symposium 2022, San Diego, CA, USA Authors: C. Rochmann, M. Génin, M. Blanchon, N. Lambert, L. Deplante, W. Heine, S.Kabadi View Poster Objectives GD3 is a progressive, Lysosomal Storage Disorder (LSD), distinguished from GD1 by early heterogenous neurological manifestations. Neurological presentation in GD1 patients is not well understood. Differentiation of GD3 from GD1 […]
