Accuracy of diagnostic testing in primary ciliary dyskinesia
نویسندگان
چکیده
منابع مشابه
Accuracy of diagnostic testing in primary ciliary dyskinesia
Diagnosis of primary ciliary dyskinesia (PCD) lacks a "gold standard" test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred f...
متن کاملAccuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?
Although primary ciliary dyskinesia (PCD) is a rare disease, symptoms like recurrent upper and lower respiratory tract infections are extremely common, especially in the paediatric population. Therefore, an important but complicated task for clinicians is to identify patients suffering from this autosomal-recessive condition among the large cohort of individuals with recurrent respiratory sympt...
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RATIONALE The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unkno...
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BACKGROUND To date, diagnosis of Primary Ciliary Dyskinesia (PCD) remains difficult and challenging. We systematically evaluated the diagnostic performance of nasal Nitric Oxide (nNO) measurement for the detection of PCD, using either velum-closure (VC) or non-velum-closure (non-VC) techniques. METHODS All major electronic databases were searched from inception until March 2015 using appropri...
متن کاملPrimary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2015
ISSN: 0903-1936,1399-3003
DOI: 10.1183/13993003.00749-2015