Publications by authors named "Mirjam Nussbaumer"
Background: Diagnosis of primary ciliary dyskinesia (PCD) is challenging since there is no gold standard test. The European Respiratory (ERS) and American Thoracic (ATS) Societies developed evidence-based diagnostic guidelines with considerable differences.
Objective: We aimed to compare the algorithms published by the ERS and the ATS with each other and with our own PCD-UNIBE algorithm in a clinical setting.
Article Synopsis
- - Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects cilia movement and leads to respiratory issues from birth, but diagnosing it has no standard method and requires specialized tests.
- - The PCD-UNIBE center in Switzerland developed a thorough diagnostic process including nasal brushing, high-speed videomicroscopy (HSVM), immunofluorescence (IF), and electron microscopy (TEM) to assess patients.
- - In their assessment of 100 patients, they found that no single diagnostic method was sufficient; 17 patients were confirmed with PCD while others were either inconclusive or ruled out, emphasizing the need for a multi-faceted approach to reliably diagnose the condition.