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Coordinating Centre:

Hospital of Padua
Department of Woman and Child Health
via Giustiniani 3, 35128 Padua
Phone number (Phone): +39 049-8218015
Fax number (fax): +39 049-8215430
E-mail: info@pcd-italia.it

RSS

26|11|13
"Clinical and molecular aspects of primary ciliary dyskinesia (PCD)"

Jerusalem - 29-30 January, 2014 read more

27|09|13
"Up to date on primary ciliary dyskinesia in children"

Pifferi M, Di Cicco M, Piras M, Cangiotti AM, Saggese G. Early Hum Dev. 2013 Aug 21. pii:..read more

4|02|13
"A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia."

Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S,..read more

4|02|13
"Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia."

Shoemark A, Dixon M, Corrin B, Dewar A.- J Clin Pathol. 2012 Mar;65(3):267-71 read more

News

4|02|13
"Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia."

 Shoemark A, Dixon M, Corrin B, Dewar A. - J Clin Pathol. 2012 Mar;65(3):267-71

Abstract:

BACKGROUND:  The examination of ciliary ultrastructure in a nasal sample remains a definitive diagnostic test for primary ciliary dyskinesia (PCD).

METHODS: The quantitative assessment of ciliary ultrastructure in the diagnosis of PCD over a 20-year period was reviewed.

RESULTS: During this period, 1182 patients were referred for ciliary ultrastructural analysis, 242 (20%) of whom were confirmed as having the disease. The two main causes of PCD identified were a lack of outer dynein arms (43%) and a lack of both inner and outer dynein arms (24%). Other causes included transposition, radial spoke and inner dynein arm defects. No specific ultrastructural defects were detected in 33 patients (3%) diagnosed as having PCD on the basis of their clinical features and screening tests that included a low nasal nitric oxide concentration or slow saccharine clearance and abnormal ciliary beat frequency or pattern.

CONCLUSIONS: Electron microscopy analysis can confirm but does not always exclude a diagnosis of PCD.