Background: Primary ciliary dyskinesia (PCD) is a genetically diverse disease which causes impaired mucociliary clearance, and results in pulmonary, otologic, and rhinologic disease in affected patients. Genetic mutations in multiple genes impair the ability of patients to clear mucous from the lungs, middle ear, and sinonasal cavity and lead to chronic pulmonary and sinonasal symptoms.
Methods: We identified 17 PCD patients who had available CT scans. Volumes for bilateral maxillary, sphenoid, and frontal sinuses were calculated. A control population of patients who had preoperative CT scans for endoscopic endonasal resection of skull base pathology without sinonasal cavity involvement was also identified.
Results: The mean age of PCD was 33 and ranged from 13 to 54 years. Patients were age- and gender-matched to a control group that underwent resection of anterior skull-base tumors and had a mean age of 35 that ranged between 17-53 years old. The volumes for all thee sinus cavities were significantly smaller (p < 0.007) compared to the control population. The average Lund-Mackay score was 10.6 in the PCD cohort (range 6-16) in comparison to an average of 0.7 in the control cohort (range 0-2).
Conclusions: Overall sinus volumes were smaller in patients with PCD compared to our control population. Future studies will be aimed at understanding defects in sinus development as a function of specific genetic mutations in PCD patients. Ultimately, a better understanding of the underlying pathophysiology of PCD will allow us to identify the optimal treatment practices for this unique patient group.
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http://dx.doi.org/10.1177/1945892420933175 | DOI Listing |
Am J Physiol Cell Physiol
December 2024
Institute of Physiology, University Duisburg-Essen, Essen, Germany.
Over the last few decades, the primary cilium, an inconspicuous cell organelle, has increasingly become the focus of current research. The primary cilium is a microtubule-based, non-motile, antenna-like structure that is present on almost all mammalian cells. The ciliary membrane incorporates a large number of receptor molecules, which further characterize this cellular organelle.
View Article and Find Full Text PDFFront Public Health
December 2024
School of Physical Education, Soochow University, Suzhou, China.
Purpose: This study investigates the impact of physical exercise supplemented with visual tasks on children's uncorrected distance visual acuity (UDVA), kinetic visual acuity (KVA), and accommodative sensitivity, with an analysis of the mediating role of KVA.
Methods: A total of 168 third-grade students from four natural classes in a primary school in Suzhou City were randomly assigned to either an experimental group ( = 86) or a control group ( = 82). The experimental group engaged in 30 cycles of ciliary muscle training tasks with visual targets presented for 3 s during physical exercises, while the control group participated in regular physical exercises.
Brain
December 2024
Department of Neurosciences, Laboratory of Neurobiology and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, 3000 Leuven, Belgium.
Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length.
View Article and Find Full Text PDFAnn Am Thorac Soc
December 2024
The Hospital for Sick Children, Division of Respiratory Medicine, Translational Medicine, Research Institute, Toronto, Ontario, Canada.
Rationale: Patients with Primary Ciliary Dyskinesia (PCD) experience acute pulmonary exacerbations (PEx). In Cystic Fibrosis (CF), PEx treated with oral antibiotics (oPEx) were found to be related to short and long-term lung function deficits, however the impact oPEx on lung function in patients with PCD has not yet been assessed.
Objective: To assess the impact of oPEx on lung function recovery in PCD and determine the factors associated with poorer response.
Cureus
December 2024
Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo, JPN.
We report three cases demonstrating the efficacy and versatility of the micro-incision scleral tunnel (MIST) technique, a novel method for Ahmed glaucoma valve (AGV) tube insertion. MIST is characterized by its small incision, sutureless approach, anterior-to-posterior tunnel creation, and allograft-free design. The technique involves creating a scleral tunnel using a 1-mm crescent knife (Bleb Knife II), allowing for secure tube placement into the anterior chamber, ciliary sulcus, or vitreous cavity.
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