Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis.

Diagnosis of primary ciliary dyskinesia (PCD) sometimes requires repeated nasal brushing to exclude secondary ciliary alterations.To evaluate whether the use of a new method of nasal epithelial cell culture can speed PCD diagnosis in doubtful cases and to identify which are the most informative parameters by means of a multi-layer Artificial Neural Network (ANN).A cross-sectional study was performed in patients with suspected PCD. All patients underwent nasal brushing for ciliary motion analysis, ultrastructural assessment, and evaluation of ciliary function after ciliogenesis in culture by ANN.One hundred fifty-one subjects were studied. A diagnostic suspension cell culture was obtained in 117 nasal brushings. A diagnosis of PCD was made in 36 (29 children) subjects. In 9 out of the 36 patients the diagnosis was made only after a second brushing because of equivocal results of both tests at first examination. In each of these subjects diagnosis of PCD was confirmed by cell culture results.Cell culture in suspension evaluated by means of ANN allows the separation of PCD from SCD patients after only 5 days of culture and allows the diagnosis to be reached in doubtful cases, thus avoiding the necessity of a second sample.