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New publication by Bestcilia partner: nasal scrape biopsies in PCD diagnostics

Another noteworthy publication with contribution from Bestcilia partner has recently been made available to the public. Margaret Leigh (WP4, University of North Carolina, USA) has co-authored an article on nasal scrape biopsies and their efficiency in PCD diagnostics. The research team intended to assess the possibility of creating a standardized method of sampling material for transmission electron micrographs (TEM), across 7 PCD diagnostic centers in the US.

Examination of ciliary ultrastructure is one of the major diagnostic tests for PCD. The material for observation is typically obtained via a nasal or bronchial biopsy and later used to produce TEMs; this procedure, however, is not without its challenges. There is no standard method for processing tissues, which would optimally preserve the axonemal structure of cilia in the sample and thus render high-quality micrographs. The present study used a standard operating procedure (SOP) for collecting nasal scrape biopsies in the 7 American diagnostic centers and subsequent processing of the TEMs in a centralized laboratory.

The study utilized RhinoPro curettes to obtain 448 specimens from patients with suspected PCD enrolled at research sites of the Genetic Disorders of Mucociliary Clearance Consortium. As many as 88% of the samples produced good quality TEMs, which is a significant result. The proportion of adequate specimens obtained from adult patients was higher than in children. Subsequent analysis of the obtained micrographs revealed that 39% of them bore ultrastructural changes typical for PCD, e.g. defects of the central apparatus, sometimes coupled with outer and/or inner dynein arms defects.

Producing TEMs is one of the most vital stages of arriving at a PCD diagnosis. Unlike the standard bronchoscopy, nasal biopsies using RhinoPro curettes do not require the patient to be hospitalized or sedated. As shown in the present study, nasal scrape biopsies are a viable diagnostic method yielding interpretable TEM results. Crucially, they can be employed in outpatient clinics, provided that they are performed by individuals with appropriate experience and training.

Full article is available here.