Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.

Primary ciliary dyskinesia (PCD) is under diagnosed and underestimated. Most clinical research has used some form of questionnaires to capture data but none has been critically evaluated particularly with respect to its end-user feasibility and utility. To critically appraise a clinical data collection questionnaire for PCD used in a large national PCD consortium in order to apply conclusions in future PCD research.

Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.

Background: Primary Ciliary Dyskinesia (PCD) is rare and its features in Israel have not been described.

Aims: to assess prevalence utilizing state-of-the-art diagnostic techniques, and describe clinical features, diagnostic and management practices in Israel.

Methods: A national multicenter study from 2012 to 2013 recruited patients diagnosed or suspected of having PCD.

Pulmonary function tests leading to the diagnosis of vascular ring in an infant.

A 5-month-old baby was referred to our pulmonary clinic because of chronic cough and wheeze, unresponsive to antiasthmatic treatment. Examination in the Infant Pulmonary Function Laboratory suggested an upper airway obstruction. An aberrant right subclavian artery was subsequently confirmed by a barium swallow, flexible bronchoscopy, and an angiographic reconstructed chest CT study.