The dangers of widespread nitric oxide screening for primary ciliary dyskinesia.

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The dangers of widespread nitric oxide screening for primary ciliary dyskinesia.

Thorax. 2016 Feb 19;

Authors: Collins SA, Behan L, Harris A, Gove K, Lucas JS

Abstract
Primary ciliary dyskinesia (PCD) is underdiagnosed and requires complex testing at specialist diagnostic centres. Measurement of nasal nitric oxide (nNO) has good sensitivity and specificity screening for PCD, but is currently usually measured at PCD centres rather than prior to referral. Proposals to include NO testing for asthma diagnoses could widen access to PCD screening if nasal mode analysers are available. Data from 282 consecutive referrals to our PCD diagnostic centre (31 PCD positive) were used to model predictive values for nNO testing with varying pretest probability and showed that predictive values were good in the referral population, but extending screening to more general populations would result in excessive false positives that may overwhelm diagnostic services. Although nNO remains a useful test, a ‘normal’ result with classical clinical history should still be considered for further testing.

PMID: 26896442 [PubMed – as supplied by publisher]

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Gene mutations in primary ciliary dyskinesia related to otitis media.

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Gene mutations in primary ciliary dyskinesia related to otitis media.

Curr Allergy Asthma Rep. 2014 Mar;14(3):420

Authors: Mata M, Milian L, Armengot M, Carda C

Abstract
Otitis media with effusion (OME) is the most common cause of conductive hearing loss in children and is strongly associated with primary ciliary dyskinesia (PCD). Approximately half of the children with PCD require otolaryngology care, posing a major problem in this population. Early diagnosis of PCD is critical in these patients to minimise the collateral damage related to OME. The current gold standard for PCD diagnosis requires determining ciliary structure defects by transmission electron microscopy (TEM) or clearly documenting ciliary dysfunction via digital high-speed video microscopy (DHSV). Although both techniques are useful for PCD diagnosis, they have limitations and need to be supported by new methodologies, including genetic analysis of genes related to PCD. In this article, we review classical and recently associated mutations related to ciliary alterations leading to PCD, which can be useful for early diagnosis of the disease and subsequent early management of OME.

PMID: 24459089 [PubMed – in process]

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