scholarly journals Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

2003 ◽  
Vol 112 (3) ◽  
pp. 518-524 ◽  
Author(s):  
M Chilvers
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Beat Pattern ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

Ciliary Beat Pattern Analysis Below 37°C May Increase Risk of Primary Ciliary Dyskinesia Misdiagnosis: Response

CHEST Journal ◽  
2012 ◽  
Vol 142 (2) ◽  
pp. 544-545
Author(s):  
Chris O'Callaghan ◽  
Claire M. Smith ◽  
Robert A. Hirst ◽  
Andrew Rutman ◽  
Gwyneth Williams
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Pattern Analysis ◽  
Beat Pattern ◽  
Increase Risk ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

scholarly journals Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

2014 ◽  
Vol 44 (6) ◽  
pp. 1579-1588 ◽  
Author(s):  
Johanna Raidt ◽  
Julia Wallmeier ◽  
Rim Hjeij ◽  
Jörg Große Onnebrink ◽  
Petra Pennekamp ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Genetic Disorder ◽  
Beat Frequency ◽  
Detailed Knowledge ◽  
Beat Pattern ◽  
Biallelic Mutations ◽  
Tract Infections ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spectrum of HVMA findings in PCD from grossly abnormal to very subtle. The objective of this study was to describe the diversity of HVMA findings in genetically confirmed PCD individuals.HVMA was performed as part of the routine work-up of individuals with suspected PCD. Subsequent molecular analysis identified biallelic mutations in the PCD-related genes of 66 individuals. 1072 videos of these subjects were assessed for correlation with the genotype.Biallelic mutations (19 novel) were found in 17 genes: DNAI1, DNAI2, DNAH5, DNAH11, CCDC103, ARMC4, KTU/DNAAF2, LRRC50/DNAAF1, LRRC6, DYX1C1, ZMYND10, CCDC39, CCDC40, CCDC164, HYDIN, RSPH4A and RSPH1. Ciliary beat pattern variations correlated well with the genetic findings, allowing the classification of typical HVMA findings for different genetic groups. In contrast, analysis of ciliary beat frequency did not result in additional diagnostic impact.In conclusion, this study provides detailed knowledge about the diversity of HVMA findings in PCD and may therefore be seen as a guide to the improvement of PCD diagnostics.

scholarly journals Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

Diagnostics ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 129
Author(s):  
Rosana Blanco-Máñez ◽  
Miguel Armengot-Carceller ◽  
Teresa Jaijo ◽  
Francisco Vera-Sempere
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Molecular Genetic ◽  
Transmission Electron ◽  
Beat Pattern ◽  
Significant Difference ◽  
Unknown Significance ◽  
Genetic Techniques ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission electron microscopy (TEM). Historically, TEM was considered to be the “gold standard” for the diagnosis of PCD. However, with the advances in molecular genetic techniques, an increasing number of PCD variants show normal ultrastructure and cannot be diagnosed by TEM. During ultrastructural assessment of ciliary biopsies of patients with suspicion of PCD, we observed an axonemal defect not previously described that affects peripheral doublets tilting. To further characterize this defect of unknown significance, we studied the ciliary axonemes by TEM from both PCD-confirmed patients and patients with other sino-pulmonary diseases. We detected peripheral doublets tilting in all the PCD patients, without any significant difference in the distribution of ciliary beat pattern or mutated gene. This defect was also present in those patients with normal ultrastructure PCD subtypes. We believe that the performance of axonemal asymmetry analysis would be helpful to enhance diagnosis of PCD.

scholarly journals CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia

2021 ◽  
Vol 7 (1) ◽  
pp. 00792-2020
Author(s):  
Pedro Sampaio ◽  
Mónica Ferro da Silva ◽  
Inês Vale ◽  
Mónica Roxo-Rosa ◽  
Andreia Pinto ◽  
...  
Keyword(s):  
Healthy Volunteers ◽  
Open Source ◽  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Beat Frequency ◽  
Ciliary Beat Frequency ◽  
Control Group ◽  
Observation Method ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

Evaluation of ciliary beat frequency (CBF) performed by high-speed videomicroscopy analysis (HVMA) is one of the techniques required for the correct diagnosis of primary ciliary dyskinesia (PCD). Currently, due to lack of open-source software, this technique is widely performed by visually counting the ciliary beatings per a given time-window. Our aim was to generate open-source, fast and intuitive software for evaluating CBF, validated in Portuguese PCD patients and healthy volunteers.Nasal brushings collected from 17 adult healthy volunteers and 34 PCD-referred subjects were recorded using HVMA. Evaluation of CBF was compared by two different methodologies: the new semi-automated computer software CiliarMove and the manual observation method using slow-motion movies. Clinical history, nasal nitric oxide and transmission electron microscopy were performed for diagnosis of PCD in the patient group. Genetic analysis was performed in a subset (n=8) of suspected PCD patients.The correlation coefficient between the two methods was R2=0.9895. The interval of CBF values obtained from the healthy control group (n=17) was 6.18–9.17 Hz at 25°C. In the PCD-excluded group (n=16), CBF ranged from 6.84 to 10.93 Hz and in the PCD group (n=18), CBF ranged from 0 to 14.30 Hz.We offer an automated open-source programme named CiliarMove, validated by the manual observation method in a healthy volunteer control group, a PCD-excluded group and a PCD-confirmed group. In our hands, comparisons between CBF intervals alone could discern between healthy and PCD groups in 78% of the cases.

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