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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.<\/jats:p>","DOI":"10.3390\/cells13070567","type":"journal-article","created":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T12:50:49Z","timestamp":1711371049000},"page":"567","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6133-3517","authenticated-orcid":false,"given":"Wilfredo","family":"De Jes\u00fas-Rojas","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachary J.","family":"Demetriou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Mu\u00f1iz-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Medicine, San Juan Bautista School of Medicine, Caguas, PR 00725, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Rosario-Ortiz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances M.","family":"Qui\u00f1ones","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos J.","family":"Ramos-Benitez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Basic Science, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo A.","family":"Mosquera","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,24]]},"reference":[{"key":"ref_1","first-page":"51","article-title":"Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia","volume":"4","author":"Leigh","year":"2019","journal-title":"Transl. Sci. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ppul.23304","article-title":"Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review","volume":"51","author":"Shapiro","year":"2016","journal-title":"Pediatr. Pulmonol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"399","DOI":"10.3390\/arm90050050","article-title":"Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico","volume":"90","author":"Mosquera","year":"2022","journal-title":"Adv. Respir. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S2213-2600(21)00453-7","article-title":"The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: A genetic database analysis","volume":"10","author":"Hannah","year":"2022","journal-title":"Lancet Respir. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"De Jesus-Rojas, W., Jesus, D.R.-D., and Mosquera, R.A. (2021). Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation. Diagnostics, 11.","DOI":"10.3390\/diagnostics11020281"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Li, Y., Fu, W., Geng, G., Dai, J., Fu, Z., and Tian, D. (2022). Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China. 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Sci., 24.","DOI":"10.3390\/ijms24031936"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"L909","DOI":"10.1152\/ajplung.00556.2017","article-title":"Seeing cilia: Imaging modalities for ciliary motion and clinical connections","volume":"314","author":"Peabody","year":"2018","journal-title":"Am. J. Physiol. Lung Cell Mol. Physiol."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Fawcett, L.K., Turgutoglu, N., Allan, K.M., Belessis, Y., Widger, J., Jaffe, A., and Waters, S.A. (2023). Comparing Cytology Brushes for Optimal Human Nasal Epithelial Cell Collection: Implications for Airway Disease Diagnosis and Research. J. Pers. Med., 13.","DOI":"10.3390\/jpm13050864"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1901066","DOI":"10.1183\/13993003.01066-2019","article-title":"ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: Similarities and differences in approach to diagnosis","volume":"54","author":"Shoemark","year":"2019","journal-title":"Eur. Respir. J."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"M\u00fcller, L., Savas, S.T., Tschanz, S.A., Stokes, A., Escher, A., Nussbaumer, M., and Jung, A. (2021). A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia-Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center. Diagnostics, 11.","DOI":"10.3390\/diagnostics11091540"},{"key":"ref_15","unstructured":"Brown, D.H., Robert, H., and Wolfgang, C. (2023, December 10). Tracker Video Analysis and Modeling Tool. Available online: https:\/\/www.compadre.org\/osp\/items\/detail.cfm?ID=7365."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2102300","DOI":"10.1183\/13993003.02300-2021","article-title":"Methods for the assessment of human airway ciliary function","volume":"60","author":"Jackson","year":"2022","journal-title":"Eur. Respir. J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1146\/annurev.physiol.69.040705.141236","article-title":"Overview of structure and function of mammalian cilia","volume":"69","author":"Satir","year":"2007","journal-title":"Annu. Rev. Physiol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1002\/humu.22371","article-title":"Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia","volume":"34","author":"Daniels","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0248-4900(92)90436-5","article-title":"Temperature effect on the ciliary beat frequency of human nasal and tracheal ciliated cells","volume":"76","author":"Cosson","year":"1992","journal-title":"Biol. Cell"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1091\/mbc.E20-12-0806","article-title":"Structural insights into the cause of human RSPH4A primary ciliary dyskinesia","volume":"32","author":"Zhao","year":"2021","journal-title":"Mol. Biol. Cell"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ajhg.2009.01.011","article-title":"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities","volume":"84","author":"Castleman","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1513\/AnnalsATS.201511-748OC","article-title":"Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents","volume":"13","author":"Leigh","year":"2016","journal-title":"Ann. Am. Thorac. Soc."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1183\/23120541.00792-2020","article-title":"CiliarMove: New software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia","volume":"7","author":"Sampaio","year":"2021","journal-title":"ERJ Open Res."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Schneiter, M., Tschanz, S.A., Escher, A., M\u00fcller, L., and Frenz, M. (2023). The Cilialyzer\u2014A freely available open-source software for the analysis of mucociliary activity in respiratory cells. Comput. Methods Programs Biomed., 241.","DOI":"10.1016\/j.cmpb.2023.107744"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Hirst, R.A., Jackson, C.L., Coles, J.L., Williams, G., Rutman, A., Goggin, P.M., Adam, E.C., Page, A., Evans, H.J., and Lackie, P.M. (2014). Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0089675"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1164\/ajrccm.153.3.8630556","article-title":"A human respiratory-tissue organ culture incorporating an air interface","volume":"153","author":"Jackson","year":"1996","journal-title":"Am. J. Respir. Crit. Care Med."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/13\/7\/567\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:17:45Z","timestamp":1760105865000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/13\/7\/567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,24]]},"references-count":26,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,4]]}},"alternative-id":["cells13070567"],"URL":"https:\/\/doi.org\/10.3390\/cells13070567","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,24]]}}}