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

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

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dc.contributor.author Blanco-Máñez, Rosana
dc.contributor.author Armengot Carceller, Miguel
dc.contributor.author Jaijo, Teresa
dc.contributor.author Vera Sempere, Francisco José
dc.date.accessioned 2022-01-11T13:18:23Z
dc.date.available 2022-01-11T13:18:23Z
dc.date.issued 2022
dc.identifier.uri https://hdl.handle.net/10550/81296
dc.description.abstract 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.
dc.language.iso eng
dc.relation.ispartof Diagnostics, 2022, vol. 12 (1), num. 129, p. 1-10
dc.rights.uri info:eu-repo/semantics/openAccess
dc.source Blanco-Máñez, Rosana Armengot Carceller, Miguel Jaijo, Teresa Vera Sempere, Francisco José 2022 Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia? Diagnostics 12 (1) 129 1 10
dc.subject Diagnòstic
dc.title Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
dc.type info:eu-repo/semantics/article
dc.date.updated 2022-01-11T13:18:24Z
dc.identifier.doi https://doi.org/10.3390/diagnostics12010129
dc.identifier.idgrec 149604

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