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We originally described how analysis of ciliary beat pattern may be associated with the underlying ultrastructural defect in primary ciliary dyskinesia (PCD)1 and have since described the use of beat pattern analysis in diagnosing patients with PCD.2 Our article in CHEST3 referred to the maintenance, at low temperatures, of a normal ciliary beat pattern of cilia from subjects without PCD, which resulted in cilia slowing sufficiently to allow observation of their beat pattern. We are currently investigating whether such a low-cost alternative to slow-motion video analysis may be of use in the diagnostic testing of PCD.
We thank Dr Jackson and colleagues for their letter describing a potential problem relating to the possibility that a phenotype of PCD may exist, in which abnormalities in ciliary beat pattern may not be obvious at low temperatures. This is based on their description of one patient with a hyperfrequent ciliary beat frequency who had no associated ultrastructural abnormalities of the ciliary axoneme. Additional confirmatory evidence of PCD using cell culture or genetic testing would certainly be useful in this case.
We have recently had the opportunity to review with a member of the Southampton team the video files relating to the patient described and have also reviewed the files provided with the letter. The focus of the two videos is different at 37°C and at room temperature; however, each member of our nationally funded PCD diagnostic center independently felt the abnormal ciliary beat pattern could be seen at both the lower and higher temperatures. We do not agree, therefore, that this rare phenotype of PCD would be missed if the ciliary beat pattern was observed at a lower temperature.
It was also noted that the beat frequency at room temperature was within the normal range. However, this would have to be a normal range obtained from large numbers of patients at room temperature. It is unclear from the letter that this is the case. We do believe, however, that analysis of ciliary beat pattern in a cohort of patients with PCD using high-speed video analysis needs to be compared with results at low temperatures; this work is currently being undertaken.
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