Progress in Diagnosing and Managing Primary Ciliary Dyskinesia: 2nd Edition
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 3714
Special Issue Editor
2. Royal Brompton & Harefield NHS Trust, London, UK
Interests: repiratory disease and ophthalmology
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia that can result in severe multisystem, disease including chronic lung disease, rhinosinusitis, hearing impairment, and subfertility. An early and accurate diagnosis of PCD is vital to implement appropriate treatment aimed at preventing lung damage in childhood and preserving lung function. Confirmation of a diagnosis of PCD relies on a combination of tests, including measurement of nasal nitric oxide as well as acquiring cells by nasal brushings for examination of cilia motility using high-speed video microscopy, immunofluorescence microscopy, transmission electron microscopy, and genotyping. To date, there are >50 known PCD genes that have been identified, which reflects the complexity of the disease and challenges to reach a diagnosis. Research to advance the current testing methodology including greater genetic and phenotypic knowledge and introduction of new technologies has the potential to improve the accuracy and turnaround time of diagnosis and to enhance the management of PCD patients.
In this Special Issue, we are looking for original papers and reviews on the progress of diagnosing and managing PCD patients. This includes but is not limited to the following topics: (i) Advances in our understanding of genetic mutations that lead to PCD, (ii) imaging techniques examining mucociliary clearance as well as structure abnormalities or absence of axonemal components required for normal ciliary function, (iii) respiratory epithelial cell culture techniques, (iv) novel diagnostic procedures, and (v) innovative therapeutic approaches.
Dr. Thomas Burgoyne
Guest Editor
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Keywords
- cilia
- mucociliary clearance
- mucus
- sputum
- infection
- genetics
- cell culture
- electron microscopy
- immunofluorescence
- high-speed video microscopy
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