Mucociliary clearance is a main defense mechanism of the respiratory tract, which can be inherently impaired in primary ciliary dyskinesia (PCD) or reversibly altered in secondary ciliary dyskinesia (SCD). Limited diagnostic test availability likely leads to misdiagnosis or underdiagnosis of PCD in animals. This study evaluated the light and transmission electron microscopy (TEM) changes in the respiratory mucosa of 15 dogs with chronic respiratory disease suspected of PCD. Necropsy was performed in 1 case and 2 dogs were used as negative controls. PCD was confirmed in 1 dog, which presented with chronic otitis, bronchopneumonia, hydrocephalus and ultrastructural abnormalities in 84% of the assessed cilia, including absence of dynein arms and microtubular changes. The 14 other cases showed only nonspecific alterations, such as ciliary disorientation, compound cilia, ciliary edema, and axoneme bubbles in a minority of the evaluated cilia and were classified as SCD. Ciliary ultrastructural analysis can confirm a diagnosis of PCD if specific abnormalities exist. TEM remains an important investigational tool in veterinary medicine, as no other specific test for PCD in dogs has been standardized yet.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/0300985817705170 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
CFAP65 is essential for C2a projection integrity in axonemes: implications for organ-specific ciliary dysfunction and infertility.
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.
View Article and Find Full Text PDFExpanding the Genetic Etiology of Multiple Morphological Abnormalities of the Sperm Flagella: A Case Report of Two Novel DNAH1 Variants.
S D Med
December 2024
Sanford Health Reproductive Medicine, Fargo, North Dakota.
Background: The following case report details the genetic evaluation and treatment of a 30-year-old male with a history of asthenoteratospermia and notable abnormalities of the sperm flagella.
Methods: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.
Results: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.
Sequential Double-Lung Transplantation In Kartagener Syndrome: A Case Report.
Port J Card Thorac Vasc Surg
October 2024
Thoracic Surgery Department - Hospital de Santa Marta, Centro Hospitalar Universitário Lisboa Central, Portugal.
Kartagener syndrome (KS) is a rare congenital disorder, characterized by sinusitis, bronchiectasis and situs inversus. Lung transplantation is an effective treatment for end-stage lung failure, but dextrocardia and differences between hilar structures and pulmonary lobes require adjustments to conventional surgical technique. We present a case of a double-lung transplant without extracorporeal oxygenation in a 48-year-old male patient with KS.
View Article and Find Full Text PDFFirst Case of Primary Ciliary Dyskinesia in Greenland.
Pediatr Pulmonol
January 2025
Department of Pediatrics and Adolescent Medicine, Danish PCD Centre, Danish Pediatric Pulmonary Service, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
FHIR PIT: a geospatial and spatiotemporal data integration pipeline to support subject-level clinical research.
BMC Med Inform Decis Mak
January 2025
Renaissance Computing Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Background: Environmental exposures such as airborne pollutant exposures and socio-economic indicators are increasingly recognized as important to consider when conducting clinical research using electronic health record (EHR) data or other sources of clinical data such as survey data. While numerous public sources of geospatial and spatiotemporal data are available to support such research, the data are challenging to work with due to inconsistencies in file formats and spatiotemporal resolutions, computational challenges with large file sizes, and a lack of tools for patient- or subject-level data integration.
Results: We developed FHIR PIT (HL7® Fast Healthcare Interoperability Resources Patient data Integration Tool) as an open-source, modular, data-integration software pipeline that consumes EHR data in FHIR® format and integrates the data at the level of the patient or subject with environmental exposures data of varying spatiotemporal resolutions and file formats.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!