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Primary ciliary dyskinesia is an inherited disorder in which respiratory cilia are stationary, or beat in a slow or dyskinetic manner, leading to impaired mucociliary clearance and significant sinopulmonary disease. One diagnostic test is ciliary functional analysis using digital high-speed video microscopy (DHSV), which allows real-time analysis of complete ciliary function, comprising ciliary beat frequency (CBF) and ciliary beat pattern (CBP). However, DHSV lacks standardization. In this paper, the current knowledge of DHSV ciliary functional analysis is presented, and recommendations given for a standardized protocol for ciliary sample collection and processing. A proposal is presented for a quantitative and qualitative CBP evaluation system, to be used to develop international consensus agreement, and future DHSV research areas are identified.
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http://dx.doi.org/10.1002/ppul.24439 | DOI Listing |
Environ Res
September 2025
Institute of Environmental Medicine and Integrative Health, Faculty of Medicine, University Hospital Augsburg, Augsburg, Germany; Institute of Environmental Medicine, Helmholtz Munich, Neuherberg, Germany. Electronic address:
Background: Currently, most researchers apply pollen extracts or -suspensions to assess the effects of pollen exposure on airway epithelia. How respiratory epithelia respond to pollen aerosols is not well studied because standardised methods to aerosolize pollen were not available until recently.
Aim Of Study: To develop and test a near-natural exposure model for pollen grains based on differentiated human nasal epithelial cells and a novel particle aerosoliser.
J Am Soc Nephrol
September 2025
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Background: Genetic modifiers are believed to play an important role in the onset and severity of polycystic kidney disease (PKD), but identifying these modifiers has been challenging due to the lack of effective methodologies.
Methods: We generated zebrafish mutants of IFT140, a skeletal ciliopathy gene and newly identified autosomal dominant PKD (ADPKD) gene, to examine skeletal development and kidney cyst formation in larval and juvenile mutants. Additionally, we utilized ift140 crispants, generated through efficient microhomology-mediated end joining (MMEJ)-based genome editing, to compare phenotypes with mutants and conduct a pilot genetic modifier screen.
Curr Opin Pulm Med
September 2025
Division Pediatric Pulmonary Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Purpose Of Review: There is a significant overlap between the diagnostic evaluation for adult and pediatric patients with bronchiectasis; however, also important age-specific unique considerations. This review focuses on these specific considerations.
Recent Findings: Bronchiectasis refers to the radiographic evidence of dilation of distal and proximal bronchi secondary to chronic infection and inflammation.
Exp Eye Res
September 2025
Department of Ophthalmology, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, Henan, China; Henan Key Laboratory of Ophthalmology and Visual Science, Henan Eye Hospital, Henan Provincial People's Hospital, Zhengzhou, Henan, China; Eye institu
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by genetic heterogeneity. Despite significant progress in understanding the BBSome-coding genes associated with ciliopathies, the pathogenesis linked to mutations in chaperonin-coding genes (BBS6, BBS10, and BBS12) remains poorly defined. This study aims to confirm the genetic diagnosis of BBS and elucidate the pathological mechanisms in causative genes of BBS10 and BBS12.
View Article and Find Full Text PDFCytoskeleton (Hoboken)
September 2025
College of Life Sciences, Shandong Normal University, Jinan, China.
Cilia, evolutionarily conserved organelles on eukaryotic cell surfaces, depend on the intraflagellar transport (IFT) system for their assembly, maintenance, and signaling. The IFT system orchestrates bidirectional trafficking of structural components and signaling molecules through coordinated actions of protein complexes and molecular motors. IFT complexes assemble into anterograde trains at the ciliary base and undergo structural remodeling at the ciliary tip to form retrograde trains, with bidirectional motility regulated by modifications on the trains per se and the microtubule tracks.
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