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Diagnostics
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Progress in Diagnosing and Managing Primary Ciliary Dyskinesia: 2nd Edition
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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 3316

Special Issue Editor

Dr. Thomas Burgoyne

E-Mail Website
Guest Editor
1. UCL Institute of Ophthalmology, University College London, London, UK
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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • cilia
  • mucociliary clearance
  • mucus
  • sputum
  • infection
  • genetics
  • cell culture
  • electron microscopy
  • immunofluorescence
  • high-speed video microscopy

Published Papers (2 papers)

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Research

12 pages, 3446 KiB  
Article
Temporal Stability of Ciliary Beating Post Nasal Brushing, Modulated by Storage Temperature
by Noemie Bricmont, Romane Bonhiver, Lionel Benchimol, Bruno Louis, Jean-François Papon, Justine Monseur, Anne-Françoise Donneau, Catherine Moermans, Florence Schleich, Doriane Calmès, Anne-Lise Poirrier, Renaud Louis, Marie-Christine Seghaye and Céline Kempeneers
Diagnostics 2023, 13(18), 2974; https://doi.org/10.3390/diagnostics13182974 - 18 Sep 2023
Cited by 1 | Viewed by 726
Abstract
Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations have been associated with particular ciliary beating alterations. Ciliary beating can be evaluated using digital high-speed videomicroscopy (DHSV). However, [...] Read more.
Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations have been associated with particular ciliary beating alterations. Ciliary beating can be evaluated using digital high-speed videomicroscopy (DHSV). However, normal reference values, essential to assess ciliary beating in patients referred for a PCD diagnostic, vary between centres, as minor variations in protocols might influence ciliary beating. Consequently, establishment of normal values is essential for each PCD diagnostic centre. We aimed to evaluate whether delay after sampling, and temperature for conservation of respiratory ciliated samples, might modify assessments of ciliary beating. In total, 37 healthy nasal brushing samples of respiratory ciliated epithelia were collected. Video sequences were recorded at 37 °C immediately using DHSV. Then, the samples were divided and conserved at 4 °C or at room temperature (RT). Ciliated beating edges were then recorded at 37 °C, at 3 h and at 9 h post sampling. In six samples, recordings were continued up to 72 h after sampling. Ciliary beating was assessed manually by ciliary beat frequency (CBFM) and ciliary beat pattern (CBP). A semi-automatic software was used for quantitative analysis. Both CBF and CBP evaluated manually and by a semi-automated method were stable 9 h after sampling. CBFM was higher when evaluated using samples stored at RT than at 4 °C. CBP and the semi-automated evaluation of ciliary beating were not affected by storage temperature. When establishing normal references values, ciliary beating can be evaluated at 37 °C up to 9 h after nasal brushing, but the storage temperature modifies ciliary beating and needs to be controlled. Full article
(This article belongs to the Special Issue Progress in Diagnosing and Managing Primary Ciliary Dyskinesia: 2nd Edition)
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9 pages, 1024 KiB  
Article
Bronchiectasis Assessment in Primary Ciliary Dyskinesia: A Non-Invasive Approach Using Forced Oscillation Technique
by Wilfredo De Jesús-Rojas, Luis Reyes-Peña, José Muñiz-Hernández, Patricia Quiles Ruiz de Porras, Jesús Meléndez-Montañez, Marcos J. Ramos-Benitez and Ricardo A. Mosquera
Diagnostics 2023, 13(13), 2287; https://doi.org/10.3390/diagnostics13132287 - 6 Jul 2023
Viewed by 1878
Abstract
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder that results from the dysfunction of motile cilia, which can cause chronic upper and lower respiratory infections leading to bronchiectasis. However, there is a need for additional tools to monitor the progression of bronchiectasis [...] Read more.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder that results from the dysfunction of motile cilia, which can cause chronic upper and lower respiratory infections leading to bronchiectasis. However, there is a need for additional tools to monitor the progression of bronchiectasis in PCD. The forced oscillation technique (FOT) is an effort-independent lung function test that can be used to evaluate respiratory mechanics. In this retrospective study, we aimed to describe the radiographic findings associated with respiratory impedance (resistance (Rrs) and reactance (Xrs)) measured by FOT in six adult PCD patients and one pediatric with the (RSPH4A (c.921+3_921+6delAAGT (intronic)) founder mutation. We compared the radiographic findings on a high-resolution chest computed tomography (CT) scan with the FOT results. Our findings suggest that respiratory impedance measured by FOT may be a valuable tool for detecting and monitoring the progression of bronchiectasis in PCD patients with the (RSPH4A (c.921+3_921+6delAAGT (intronic)) founder mutation. However, further research is necessary to validate these results and determine the sensitivity and specificity of bronchiectasis monitoring in PCD patients with other genetic mutations. Full article
(This article belongs to the Special Issue Progress in Diagnosing and Managing Primary Ciliary Dyskinesia: 2nd Edition)
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