Primary ciliary dyskinesia (PCD) is caused by pathogenetic variants in >55 genes. PCD is associated with early-onset chronic wet cough and rhinosinusitis, laterality defects, middle ear disease, and reduced fertility. The clinical presentation is heterogeneous, and diagnosis often relies on multiple tests. The American Thoracic Society (ATS) and European Respiratory Society (ERS) have previously developed separate guidelines for diagnosis. Here, ERS and ATS members systematically reviewed the literature on diagnostic tools used in practice and developed unified evidence-based guidelines for PCD diagnosis using GRADE (Grading of Recommendations, Assessment, Development and Evaluations) methodology, and a transparent process of decision-making using Evidence-to-Decision (EtD) frameworks. The Task Force panel formulated three PICO (Patients, Intervention, Comparison, Outcomes) questions and three narrative questions. The accuracies of high-speed video microscopy (HSVM), immunofluorescence (IF), and nasal nitric oxide (nNO) were compared to a reference test of transmission electron microscopy (TEM) and/or genetics. The panel gives strong recommendation for use of HSVM, IF, and nNO as adjunct tests to TEM and/or genetics for PCD diagnosis. However, no adjunct test is suitable as a standalone test to diagnose PCD and no single adjunct or reference test is suitable to exclude PCD. Pursuing a genetic diagnosis is encouraged due to the implication on management. The panel emphasizes that tests should meet a minimum standard and proposes evaluation of patients at a referral centre experienced in diagnosis. The pretest probability based on symptoms should be considered when interpreting results.

BSCB GenSoc UK Cilia and Centrosome Network e-Symposia Series

Primary cilia orchestrate several signaling pathways, and their disruption results in pleiotropic disorders called ciliopathies. Bardet Beidl syndrome (BBS), one such ciliopathy, provides insights int...

Primary cilia are conserved sensory hubs essential for signaling transduction and embryonic development. Ciliary dysfunction causes a variety of developmental syndromes with neurological features and ...

by Roudabeh Vakil Monfared, Sherif Abdelkarim, Pieter Derdeyn, Kiki Chen, Hanting Wu, Kenneth Leong, Tiffany Chang, Justine Lee, Sara Versales, Surya M. Nauli, Kevin Beier, Pierre Baldi, Amal Alachkar In this study, we conducted high-throughput spatiotemporal analysis of primary cilia length and orientation across 22 mouse brain regions. We developed automated image analysis algorithms, which enabled us to examine over 10 million individual cilia, generating the largest spatiotemporal atlas of cilia. We found that cilia length and orientation display substantial variations across different brain regions and exhibit fluctuations over a 24-h period, with region-specific peaks during light-dark phases. Our analysis revealed unique orientation patterns of cilia, suggesting that cilia orientation within the brain is not random but follows specific patterns. Using BioCycle, we identified rhythmic fluctuations in cilia length across five brain regions: the nucleus accumbens core, somatosensory cortex, and the dorsomedial, ventromedial, and arcuate hypothalamic nuclei. Our findings present novel insights into the brain cilia dynamics, and highlight the need for further investigation into cilia’s role in the brain’s response to environmental changes and regulation of oscillatory physiological processes.

The CPLANE complex is essential for ciliogenesis, and mutations to all but one subunit have been associated with ciliopathies. Here they identify three familial mutations in the final subunit, RSG1, t...

Motile cilia are unique organelles with the ability to move autonomously. The force generated by beating cilia propels cells and moves fluids. The cil…

An international team of researchers, led by the University of Exeter, have been awarded a Wellcome Discovery Award grant of almost £5 million to investigate one of the body’s most fascinating microsc...