Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia

Yıl: 2022 Cilt: 64 Sayı: 4 Sayfa Aralığı: 612 - 618 Metin Dili: İngilizce DOI: 10.24953/turkjped.2020.3361 İndeks Tarihi: 15-12-2022

Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia

Öz:
Background. Cell culture increases both diagnostic specificity and sensitivity of primary ciliary dyskinesia (PCD) and the most important reason to use cell culture for definitive diagnosis in PCD is to exclude secondary ciliary defects. Here we aimed to evaluate the cilia functions and cilia ultrastructural abnormalities after ciliogenesis of cell culture in patients with definitive diagnosis of PCD. We also aimed to compare high speed videomicroscopy (HSVM) results of patients before and after ciliogenesis and to compare them with electron microscopy, genetic and immunofluorescence results in patients with positive diagnosis of PCD. Methods. This study was conducted as a cross-sectional study in patients with PCD. HSVM, transmission electron microscopy (TEM) and immunofluorescence staining results of the nasal biopsy samples taken from patients with the definitive diagnosis of PCD were evaluated and HSVM findings before and after cell culture were described. Results. Ciliogenesis and regrowth in the cell culture occurred in the nasal biopsy sample of eight patients with PCD. The mean age of the patients was 15.5±4.2 years (8.5-18 years). Mean beat frequency was found to be 7.54±1.01 hz (6.53-9.45 hz) before cell culture, and 7.36±0.86 hz (6.02-7.99 hz) after cell culture in the nasal biopsy of patients. There was no significant difference in the beat frequency of PCD patients before and after cell culture. Ciliary function analysis showed the similar beating pattern before and after cell culture in patients with PCD. Conclusions. This study showed us that there was no difference between cilia beat frequency and beat pattern before and after cell culture in patients with definitive diagnosis of PCD and repeated HSVM would be a useful diagnostic approach in patients who have no possibility to reach other diagnostic methods.
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  • 1. Shapiro AJ, Zariwala MA, Ferkol T, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol 2016; 51: 115-132. https://doi.org/10.1002/ppul.23304
  • 2. Lucas JS, Burgess A, Mitchison HM, et al. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child 2014; 99: 850-856. https://doi.org/10.1136/archdischild-2013-304831
  • 3. Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015; 4: 2. https://doi.org/10.1186/s13630-014-0011-8
  • 4. Kuehni CE, Lucas JS. Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. Breathe (Sheff) 2017; 13: 166-178. https://doi.org/10.1183/20734735.008517
  • 5. Shapiro AJ, Davis SD, Polineni D, et al. Diagnosis of primary ciliary dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med 2018; 197: e24-e39. https://doi.org/10.1164/rccm.201805-0819ST
  • 6. Dalrymple RA, Kenia P. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review. Arch Dis Child Educ Pract Ed 2019; 104: 265-269. https://doi. org/10.1136/archdischild-2017-312902
  • 7. Jorissen M, Willems T, Van der Schueren B. Ciliary function analysis for the diagnosis of primary ciliary dyskinesia: advantages of ciliogenesis in culture. Acta Otolaryngol 2000; 120: 291-295. https://doi.org/10.1080/000164800750001116
  • 8. Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr 2013; 172: 151-162. https://doi.org/10.1007/s00431-012-1785-6
  • 9. Boon M, Smits A, Cuppens H, et al. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis 2014; 9: 11. https://doi.org/10.1186/1750-1172-9-11
  • 10. Jorissen M, Van der Schueren B, Van den Berghe H, Cassiman JJ. In vitro ciliogenesis in respiratory epithelium of cystic fibrosis patients. Ann Otol Rhinol Laryngol 1991; 100: 366-371. https://doi.org/10.1177/000348949110000504
  • 11. Jorissen M, Willems T, Van der Schueren B, Verbeken E, De Boeck K. Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture. Acta Otorhinolaryngol Belg 2000; 54: 343-356.
  • 12. Hirst RA, Rutman A, Williams G, O’Callaghan C. Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia. Chest 2010; 138: 1441-1447. https://doi.org/10.1378/chest.10-0175
  • 13. Willems T, Jorissen M. Sequential monolayersuspension culture of human airway epithelial cells. J Cyst Fibros 2004; 3 Suppl 2: 53-54. https://doi.org/10.1016/j.jcf.2004.05.011
  • 14. Shoemark A, Boon M, Brochhausen C, et al. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J 2020; 55: 1900725. https://doi.org/10.1183/13993003.00725-2019
  • 15. Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J 2017; 49: 1601090. https://doi.org/10.1183/13993003.01090-2016
  • 16. Jorissen M, Bessems A. Normal ciliary beat frequency after ciliogenesis in nasal epithelial cells cultured sequentially as monolayer and in suspension. Acta Otolaryngol 1995; 115: 66-70. https://doi.org/10.3109/00016489509133349
  • 17. Pifferi M, Montemurro F, Cangiotti AM, et al. Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. Thorax 2009; 64: 1077-1081. https://doi.org/10.1136/thx.2008.110940
  • 18. Pifferi M, Bush A, Montemurro F, et al. Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis. Eur Respir J 2013; 41: 960-965. https://doi.org/10.1183/09031936.00039412
  • 19. Hirst RA, Jackson CL, Coles JL, et al. Culture of primary ciliary dyskinesia epithelial cells at airliquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid. PLoS One 2014; 9: e89675. https://doi.org/10.1371/journal.pone.0089675
  • 20. Jackson CL, Behan L, Collins SA, et al. Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur Respir J 2016; 47: 837-848. https://doi.org/10.1183/13993003.00749-2015
APA Emiralioglu N, HEKİMOĞLU R, kaya z, Karakoc E, ATILLA P, Günaydın R, Tuğcu G, Eryilmaz Polat S, Hizal m, Yalçın E, Dogru D, Kiper N, Özçelik U (2022). Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. , 612 - 618. 10.24953/turkjped.2020.3361
Chicago Emiralioglu Nagehan,HEKİMOĞLU RÜMEYSA HEKİMOĞLU,kaya zeynep bengisu,Karakoc Elif,ATILLA PERGIN,Günaydın Rıza Önder,Tuğcu Gökçen Dilşa,Eryilmaz Polat Sanem,Hizal mina,Yalçın Ebru Güneş,Dogru Deniz,Kiper Nural,Özçelik Uğur Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. (2022): 612 - 618. 10.24953/turkjped.2020.3361
MLA Emiralioglu Nagehan,HEKİMOĞLU RÜMEYSA HEKİMOĞLU,kaya zeynep bengisu,Karakoc Elif,ATILLA PERGIN,Günaydın Rıza Önder,Tuğcu Gökçen Dilşa,Eryilmaz Polat Sanem,Hizal mina,Yalçın Ebru Güneş,Dogru Deniz,Kiper Nural,Özçelik Uğur Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. , 2022, ss.612 - 618. 10.24953/turkjped.2020.3361
AMA Emiralioglu N,HEKİMOĞLU R,kaya z,Karakoc E,ATILLA P,Günaydın R,Tuğcu G,Eryilmaz Polat S,Hizal m,Yalçın E,Dogru D,Kiper N,Özçelik U Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. . 2022; 612 - 618. 10.24953/turkjped.2020.3361
Vancouver Emiralioglu N,HEKİMOĞLU R,kaya z,Karakoc E,ATILLA P,Günaydın R,Tuğcu G,Eryilmaz Polat S,Hizal m,Yalçın E,Dogru D,Kiper N,Özçelik U Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. . 2022; 612 - 618. 10.24953/turkjped.2020.3361
IEEE Emiralioglu N,HEKİMOĞLU R,kaya z,Karakoc E,ATILLA P,Günaydın R,Tuğcu G,Eryilmaz Polat S,Hizal m,Yalçın E,Dogru D,Kiper N,Özçelik U "Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia." , ss.612 - 618, 2022. 10.24953/turkjped.2020.3361
ISNAD Emiralioglu, Nagehan vd. "Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia". (2022), 612-618. https://doi.org/10.24953/turkjped.2020.3361
APA Emiralioglu N, HEKİMOĞLU R, kaya z, Karakoc E, ATILLA P, Günaydın R, Tuğcu G, Eryilmaz Polat S, Hizal m, Yalçın E, Dogru D, Kiper N, Özçelik U (2022). Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. Turkish Journal of Pediatrics, 64(4), 612 - 618. 10.24953/turkjped.2020.3361
Chicago Emiralioglu Nagehan,HEKİMOĞLU RÜMEYSA HEKİMOĞLU,kaya zeynep bengisu,Karakoc Elif,ATILLA PERGIN,Günaydın Rıza Önder,Tuğcu Gökçen Dilşa,Eryilmaz Polat Sanem,Hizal mina,Yalçın Ebru Güneş,Dogru Deniz,Kiper Nural,Özçelik Uğur Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. Turkish Journal of Pediatrics 64, no.4 (2022): 612 - 618. 10.24953/turkjped.2020.3361
MLA Emiralioglu Nagehan,HEKİMOĞLU RÜMEYSA HEKİMOĞLU,kaya zeynep bengisu,Karakoc Elif,ATILLA PERGIN,Günaydın Rıza Önder,Tuğcu Gökçen Dilşa,Eryilmaz Polat Sanem,Hizal mina,Yalçın Ebru Güneş,Dogru Deniz,Kiper Nural,Özçelik Uğur Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. Turkish Journal of Pediatrics, vol.64, no.4, 2022, ss.612 - 618. 10.24953/turkjped.2020.3361
AMA Emiralioglu N,HEKİMOĞLU R,kaya z,Karakoc E,ATILLA P,Günaydın R,Tuğcu G,Eryilmaz Polat S,Hizal m,Yalçın E,Dogru D,Kiper N,Özçelik U Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. Turkish Journal of Pediatrics. 2022; 64(4): 612 - 618. 10.24953/turkjped.2020.3361
Vancouver Emiralioglu N,HEKİMOĞLU R,kaya z,Karakoc E,ATILLA P,Günaydın R,Tuğcu G,Eryilmaz Polat S,Hizal m,Yalçın E,Dogru D,Kiper N,Özçelik U Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia. Turkish Journal of Pediatrics. 2022; 64(4): 612 - 618. 10.24953/turkjped.2020.3361
IEEE Emiralioglu N,HEKİMOĞLU R,kaya z,Karakoc E,ATILLA P,Günaydın R,Tuğcu G,Eryilmaz Polat S,Hizal m,Yalçın E,Dogru D,Kiper N,Özçelik U "Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia." Turkish Journal of Pediatrics, 64, ss.612 - 618, 2022. 10.24953/turkjped.2020.3361
ISNAD Emiralioglu, Nagehan vd. "Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia". Turkish Journal of Pediatrics 64/4 (2022), 612-618. https://doi.org/10.24953/turkjped.2020.3361