Diagnosis and New Insights in Primary Ciliary Dyskinesia
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: closed (20 December 2022) | Viewed by 3027
Special Issue Editors
Interests: Cilia and ciliopathies; Airway inflammation; Head and Neck Oncology and Surgery; Sensorineural Hearing loss and ciliopathies
2 . Molecular, Cellular, and Genomic Biomedicine Group, IIS La Fe, 46020 Valencia, Spain
Interests: rare diseases, ciliopathies; primary ciliary dyskinesia; physiology; molecular biomedicine and genetics of rare respiratory diseases
Special Issue Information
Dear Colleagues,
Primary Ciliary Dyskinesia (PCD) is a rare respiratory disease characterized by an alteration in ciliary function, patients exhibiting classic symptoms such as neonatal respiratory distress, recurrent airway infections, chronic rhinitis, otitis media and sinusitis, laterality defects, and male infertility. Diagnosis is complex with no currently existing gold standard technique. Studying ciliary function and structure combined with genetics and compatible clinical symptoms are all required in order to arrive to a conclusive diagnosis. The management of PCD patients is very challenging, and an early diagnosis is vital in order for a better prognosis.
In this Special Issue, we look for original papers and reviews based on the early and accurate diagnosis, treatment guidelines, and experimental gene therapy in PCD, including, but not limited to, the following topics: (i) advances in PCD diagnostic techniques, including high-speed video microscopy, electron microscopy, immunofluorescence analysis, and potential serological determinations; (ii) new methods and analysis models for the objective determination of the ciliary beat that allows a rapid diagnosis of the disease; (iii) advances in genetics of PCD, including new mutations and correlations regarding the genotype–phenotype of this rare disease; (iv) airway epithelial cell culture advances; (v) progress in the management of adult and children PCD patients according to their diagnosis; (vi) new therapeutic approaches for PCD patients; (vii) gene therapy in PCD.
Dr. Miguel Armengot-Carceller
Dr. Ana Reula
Guest Editors
Manuscript Submission Information
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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- primary ciliary dyskinesia
- cilia
- mucociliary clearance
- rare diseases
- rare respiratory diseases
- Kartagener syndrome
- nasal nitric oxide
- cilia motility
- high-speed video microscopy
- electron microscopy
- genetics
- gene therapy
- immunofluorescence
- air–liquid interface culture
