The Cilialyzer – A freely available open-source software for the analysis of mucociliary activity in respiratory cells

Schneiter, Martin; Tschanz, Stefan A.; Escher, Anaïs; Müller, Loretta; Frenz, Martin

doi:10.1016/j.cmpb.2023.107744

Cited by 5 publications

(4 citation statements)

References 42 publications

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“…As the field moves towards the implementation of advanced tools like HSVA to offer deeper insights into specific PCD phenotypes and ciliary behaviors, it raises the necessity of following rigorous protocols and ensuring standardization across diagnostic platforms. Future studies are needed to explore the utility of new open-source software such as Cilialyzer and CiliarMove to provide a standardized approach to measuring CBF [23,24]. Although manual counting has demonstrated a reasonable and easy methodology to measure CBF directly, proving reliable, objective, and accessible software tools may offer a standardized measurement system to facilitate the comparison and translatability of the findings across different cohorts.…”

Section: Discussionmentioning

confidence: 99%

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis

De Jesús-Rojas,

Demetriou,

Muñiz-Hernández

et al. 2024

Cells

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Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA). Our study implemented HSVA for the first time on the island as a tool to better diagnose and characterize the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in Puerto Rican patients. By applying HSVA, we analyzed the ciliary beat frequency (CBF) and pattern (CBP) in native Puerto Rican patients with PCD. Our results showed decreased CBF and a rotational CBP linked to the RSPH4A founder mutation in Puerto Ricans, presenting a novel diagnostic marker that could be implemented as an axillary test into the PCD diagnosis algorithm in Puerto Rico. The integration of HSVA technology in Puerto Rico substantially enhances the PCD evaluation and diagnosis framework, facilitating prompt detection and early intervention for improved disease management. This initiative, demonstrating the potential of HSVA as an adjunctive test within the PCD diagnostic algorithm, could serve as a blueprint for analogous developments throughout Latin America.

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Section: Discussionmentioning

confidence: 99%

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis

De Jesús-Rojas,

Demetriou,

Muñiz-Hernández

et al. 2024

Cells

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“…Approximately half of the patients with PCD have SI, called KS, which is caused by defects in the function of lymph node cilia during embryonic development 50 . There are at least 30 loci associated with PCD (CILD1-30), and 28 disease-causing genes of PCD have been identified to date 51 . The variant of DNAH5, encoding a heavy chain of outer dynein arms, is the main genetic etiologies of 15–28% of PCD families 52 , 53 .…”

Section: Discussionmentioning

confidence: 99%

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Xue,

Yu,

Chen

et al. 2024

Sci Rep

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To evaluate the genetic etiology of fetal dextrocardia, associated ultrasound anomalies, and perinatal outcomes, we investigated the utility of whole exome sequencing (WES) for prenatal diagnosis of dextrocardia. Fetuses with dextrocardia were prospectively collected between January 2016 and December 2022. Trio-WES was performed on fetuses with dextrocardia, following normal karyotyping and/or chromosomal microarray analysis (CMA) results. A total of 29 fetuses with dextrocardia were collected, including 27 (93.1%) diagnosed with situs inversus totalis and 2 (6.9%) with situs inversus partialis. Cardiac malformations were present in nine cases, extra-cardiac anomalies were found in seven cases, and both cardiac and extra-cardiac malformations were identified in one case. The fetal karyotypes and CMA results of 29 cases were normal. Of the 29 cases with dextrocardia, 15 underwent WES, and the other 14 cases refused. Of the 15 cases that underwent WES, clinically relevant variants were identified in 5/15 (33.3%) cases, including the diagnostic variants DNAH5, DNAH11, LRRC56, PEX10, and ZIC3, which were verified by Sanger sequencing. Of the 10 cases with non-diagnostic results via WES, eight (80%) chose to continue the pregnancies. Of the 29 fetuses with dextrocardia, 10 were terminated during pregnancy, and 19 were live born. Fetal dextrocardia is often accompanied by cardiac and extra-cardiac anomalies, and fetal dextrocardia accompanied by situs inversus is associated with a high risk of primary ciliary dyskinesia. Trio-WES is recommended following normal karyotyping and CMA results because it can improve the diagnostic utility of genetic variants of fetal dextrocardia, accurately predict fetal prognosis, and guide perinatal management and the reproductive decisions of affected families.

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“…For both types of analyses the following timepoints were used: baseline (before the application of any liquids), 1 min (only for the 1 min treatment), 5 min, 10 min, 15 min, 30 min, 60 min, 90 min, 120 min and 150 min. CBF (of top and side view recordings) was computated using a Fourier-Transformation-based algorithm of the Cilialyzer, a Python-based program [30]. CBF values are presented as the mean of all recorded videos.…”

Section: Methodsmentioning

confidence: 99%

Similar effect of lidocaine and saline on ciliary beating of nasal epithelial cells in vitro

Savas,

Tschanz,

Latzin

et al. 2024

Preprint

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Rationale: Primary ciliary dyskinesia is a rare genetic disease affecting ciliary motility and causing respiratory symptoms. Diagnosis can be done by high-speed-videomicroscopy using nasal epithelial cells (NECs) obtained via brushings. This procedure can be painful, especially for children. The use of lidocaine is proposed to reduce this pain; however, it is not clear whether lidocaine changes ciliary beating frequency (CBF) or pattern (CBP) in the subsequent high-speed-videomicroscopy. Objective: The aim of this study was to analyse the effect of lidocaine on the CBF and the CBP of differentiated, air-liquid-interface cultured NECs. Methods: NECs from healthy volunteers were obtained via brushings and cultured at the air-liquid-interface. After differentiation, lidocaine or isotonic saline (IS, control) were added apically for 1 or 5 min each and CBF (in top view of whole inserts and side views of scratched cells) and CBP (only side view) were assessed and recorded up to 150 min. CBF was computed and CBP was analysed semiquantitatively. Results: Lidocaine as well as IS increased the CBF in the top view approach significantly compared to baseline. However, we found no significant differences between lidocaine and IS (control) treatment. Additionally, no effect of lidocaine on CBF, CBP, amplitude, inter- and intracellular coordination or transport was seen in the side view approach. Conclusion: We conclude that the observed CBF increase is related to the addition of liquid on the mucus layer and not by the lidocaine itself. Therefore, it seems possible to use lidocaine for nasal analgesia without impact on subsequent analysis of the ciliary motility.

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The Cilialyzer – A freely available open-source software for the analysis of mucociliary activity in respiratory cells

Cited by 5 publications

References 42 publications

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Similar effect of lidocaine and saline on ciliary beating of nasal epithelial cells in vitro

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