ArticleDiagnostics (Basel, Switzerland)2021
A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia-Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center.
Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Quantitative analysis of mucociliary activity by computational high-speed video reflection microscopy.European biophysics journal : EBJ · 2026Article
- Article
- Influence of Insert Brand and Culture Method on Ciliary Activity and Epithelial Cell Types in Human Nasal Air-Liquid Interface Cell Cultures.Life (Basel, Switzerland) · 2025Article
- Assessment of liquid media requirements for storing and evaluating respiratory cilia motility.PeerJ · 2025Article
- Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect.Frontiers in molecular biosciences · 2025Article
- Evaluation of Open-Source Ciliary Analysis Software in Primary Ciliary Dyskinesia: A Comparative Assessment.Diagnostics (Basel, Switzerland) · 2024Article
- Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis.Cells · 2024Article
- Novel pathogenic variants ofFrontiers in genetics · 2024Article
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia. Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is challenging, as PCD diagnostics requires different methods with high expertise. We founded PCD-UNIBE as the first comprehensive PCD diagnostic center in Switzerland. Our diagnostic approach includes nasal brushing and cell culture with analysis of ciliary motility via high-speed-videomicroscopy (HSVM) and immunofluorescence labeling (IF) of structural proteins. Selected patients undergo electron microscopy (TEM) of ciliary ultrastructure and genetics. We report here on the first 100 patients assessed by PCD-UNIBE. All patients received HSVM fresh, IF, and cell culture (success rate of 90%). We repeated the HSVM with cell cultures and conducted TEM in 30 patients and genetics in 31 patients. Results from cell cultures were much clearer compared to fresh samples. For 80 patients, we found no evidence of PCD, 17 were diagnosed with PCD, two remained inconclusive, and one case is ongoing. HSVM was diagnostic in 12, IF in 14, TEM in five and genetics in 11 cases. None of the methods was able to diagnose all 17 PCD cases, highlighting that a comprehensive approach is essential for an accurate diagnosis of PCD.
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