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High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature.

ABSTRACT: Primary ciliary dyskinesia (PCD) is a rare disease resulting from a defect in ciliary function that generates, among other issues, chronic upper and lower respiratory tract infections. European guidelines recommend studying ciliary function (pattern (CBP) and frequency (CBF)), together with characteristic clinical symptoms, as one of the definitive tests. However, there is no "gold standard". The present study aims to use high-speed video microscopy to describe how CBF and CBP alter over time and at different temperatures to reduce the error rate in the diagnosis of PCD. Samples of nasal epithelium from 27 healthy volunteers were studied to assess CBF and CBP at 0, 3, 24, 48, and 72 h, at room temperature and 4 °C. It was observed that CBF increased while CBP became dyskinetic, both at room temperature and at 4 °C, as time passed, especially after 3 h. In order to preserve all ciliary function parameters and to perform a reliable analysis to improve the diagnostic process of PCD, analysis should be performed within the first 3 h of sample collection, preferably in reference centers.

SUBMITTER: Reula A

PROVIDER: S-EPMC8305583 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Primary ciliary dyskinesia (PCD) impairs pulmonary function, respiratory and peripheral muscle strength, and exercise capacity. We aimed to investigate the effects of active video games (AVGs) on pulmonary function, respiratory and peripheral muscle strength, exercise capacity, muscle oxygenation (SMO2), physical activity, activities of daily living (ADL), and quality of life (QOL) in PCD. Thirty-two PCD patients were randomly assigned to AVG group (n = 16) and the control group (n = 16). AVG group underwent AVGs using Xbox-Kinect-360 device for 40 min/day, 3 days/week for 8 weeks plus airway clearance techniques (ACT), and the control group was applied ACT only. Pulmonary function, respiratory and quadriceps muscle strength, exercise capacity (6-min walk test [6MWT], incremental shuttle walk test [ISWT]), and ADL (Glittre ADL test) were assessed. SMO2 during ISWT and ADL test was also recorded. Physical activity and QOL (PCD-QOL) were evaluated. Pulmonary function; respiratory and quadriceps muscle strength; 6MWT and ISWT distance; physical activity; ADL performance; SMO2; physical, emotional, and social functioning; treatment burden; and upper and lower symptom parameters of PCD-QOL significantly improved after 8 weeks in the AVG group (p < 0.05). There were no significant differences in measured parameters except emotional function and upper respiratory symptom scores of PCD-QOL in the control group (p > 0.05). Conclusion: The AVGs positively affect pulmonary (pulmonary function, respiratory muscle strength) and extrapulmonary (peripheral muscle strength, exercise capacity, SMO2, physical activity, ADL, and QOL) characteristics in children with PCD. The AVGs may be added to the pulmonary rehabilitation program as an exercise training modality in patients with PCD. Trial registration: This study registered at ClinicalTrials.gov with NCT03832491 on February 6, 2019. What is Known: • It is indicated that exercise capacity is increased with traditional exercise-training in a case report of Kartagener Syndrome. What is New: • No randomized controlled study investigated the effects of exercise-training in PCD. • 8-week moderate-intensity active video gaming (AVGs) improves pulmonary and extrapulmonary features in children with PCD. AVGs may be preferable due to being enjoyable, providing visual and audial feedback in the pulmonary rehabilitation programs of PCD.

Project description:BackgroundIt is estimated that 1-13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium structure or function, resulting in impaired mucociliary clearance. Symptoms appear in infancy but diagnosis is often late or missed, often due to the lack of a "gold standard" diagnostic tool and non-specific symptoms. Mutations in > 50 genes account for around 70% of cases, with additional genes, and non-coding, synonymous, missense changes or structural variants (SVs) in known genes presumed to account for the missing heritability.MethodsUK patients with no identified genetic confirmation for the cause of their PCD or bronchiectasis were eligible for whole genome sequencing (WGS) in the Genomics England Ltd 100,000 Genomes Project. 21 PCD probands and 52 non-cystic fibrosis (CF) bronchiectasis probands were recruited in Wessex Genome Medicine Centre (GMC). We carried out analysis of single nucleotide variants (SNVs) and SVs in all families recruited in Wessex GMC.Results16/21 probands in the PCD cohort received confirmed (n = 9), probable (n = 4) or possible (n = 3) diagnosis from WGS, although 13/16 of these could have been picked up by current standard of care gene panel testing. In the other cases, SVs were identified which were missed by panel testing. We identified variants in novel PCD candidate genes (IFT140 and PLK4) in 2 probands in the PCD cohort. 3/52 probands in the non-CF bronchiectasis cohort received a confirmed (n = 2) or possible (n = 1) diagnosis of PCD. We identified variants in novel PCD candidate genes (CFAP53 and CEP164) in 2 further probands in the non-CF bronchiectasis cohort.ConclusionsGenetic testing is an important component of diagnosing PCD, especially in cases of atypical disease history. WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants. In these cases it may detect SVs and is a powerful tool for novel gene discovery.

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High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature.

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