ArticleJournal of internal medicine2025
An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.
Article in Journal of internal medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a multicenter derivation and external validation study.BMC medicine · 2026Article
- Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia.Orphanet journal of rare diseases · 2025Article
- Feasibility of Machine Learning Analysis for the Identification of Patients with Possible Primary Ciliary Dyskinesia.medRxiv : the preprint server for health sciences · 2025Article
- An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.Journal of internal medicine · 2025Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease. Due to difficulty accessing diagnostic services and a lack of awareness of the syndrome, clinicians often fail to recognize the classic phenotype, leading to missed diagnoses.
methodsRelevant medical records were accessed through The BIG DATA QUERY AND ANALYSIS SYSTEM of Peking Union Medical College Hospital from September 1, 2012 to March 31, 2024. The search strategy included the following key terms: (bronchiectasis OR atelectasis OR recurrent cough OR recurrent expectoration OR hemoptysis) AND (sinusitis OR nasal polyps OR otitis media OR neonatal pneumonia OR neonatal respiratory distress OR ectopic pregnancy OR infertility OR artificial insemination OR assisted reproduction OR hydrocephalus OR congenital heart disease OR organ laterality defect OR right-sided heart OR semen OR consanguineous marriage). Patients were filtered according to inclusion and exclusion criteria, and those with clinical suspicion of PCD were invited for screening, which included nasal nitric oxide and whole exome sequencing.
resultsA total of 874 medical records were retrieved. After filtering based on inclusion and exclusion criteria, 65 patients with clinical suspicion of PCD were identified, 21 of whom accepted our invitation to complete PCD-related screening. Among them, four were diagnosed with PCD, one was diagnosed with cystic fibrosis, and one was diagnosed with immunodeficiency-21.
conclusionsThis is the first study to use an electronic medical record retrieval system to identify missed diagnoses PCD. We believe that the methods used in this study can be extended to other rare diseases in the future.
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