Background: The diagnosis of primary ciliary dyskinesia (PCD) can be challenging, and it may be particularly difficult to distinguish primary ciliary disease from the secondary changes after infections.
Objectives: The purpose of the study was to evaluate if nasal epithelial cells, obtained with nasal brushing instead of a biopsy, could be used in a culture system for the diagnosis of PCD in difficult cases.
Methods And Main Results: Ciliary motion analysis (CMA) and transmission electron microscopy (TEM) were performed on 59 subjects with persistent or recurrent pneumonia. These investigations allowed the diagnosis of PCD in 13 (22%) patients while the defect of the cilia was considered secondary to infections in 37 (63%) subjects. In the remaining nine (15%) patients the diagnostic evaluation with CMA and TEM remained inconclusive. Ciliogenesis in culture allowed the diagnosis of PCD in four of these patients, it was indicative of a secondary defect in two subjects, and it was not helpful in the remaining three patients.
Conclusions: Culture of cells obtained with brushing of the nasal turbinate is not a perfect test, nevertheless it may offer diagnostic help in doubtful cases of PCD.
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http://dx.doi.org/10.1136/thx.2008.110940 | DOI Listing |
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Primary cilia play a pivotal role in cellular signaling and development and disruptions in ciliary form and/or function leads to human ciliopathies. Here, we examine the role of , a key component of the intraflagellar transport-A complex, in mouse forebrain development using a null allele. Our findings reveal significant microcephaly in homozygous mutants is caused by disrupted neural progenitor proliferation and differentiation.
View Article and Find Full Text PDFCureus
December 2024
Pulmonology, Algemeen Ziekenhuis Glorieux, Ronse, BEL.
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized. This report describes a 20-year-old female of North African descent with consanguineous parentage, who presented with chronic cough and exertional dyspnea persisting over several years.
View Article and Find Full Text PDFBiomedicines
January 2025
Institute of Ophthalmology, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria di Modena, 41122 Modena, Italy.
Background/objectives: Micropulse laser trabeculoplasty (MLT) is gaining attention as a non-invasive treatment option for primary open-angle glaucoma (POAG), offering an alternative to traditional surgeries and medications. This systematic review evaluates the effectiveness, safety, and potential of MLT in glaucoma management.
Methods: This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.
Cell Mol Life Sci
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing, 211166, China.
Defects in motile cilia and flagella lead to motile ciliopathies, including primary ciliary dyskinesia (PCD), which manifests as multi-organ dysfunction such as hydrocephalus, infertility, and respiratory issues. CFAP65 variants are a common cause of male infertility, but its localization and function have remained unclear. In this study, we systematically evaluated CFAP65's role using Cfap65 knockout mice and human patients with CFAP65 variants.
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