Diagnosis of primary ciliary dyskinesia (PCD) sometimes requires repeated nasal brushing to exclude secondary ciliary alterations. Our aim was to evaluate whether the use of a new method of nasal epithelial cell culture can speed PCD diagnosis in doubtful cases and to identify which are the most informative parameters by means of a multilayer artificial neural network (ANN). A cross-sectional s...

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...

BACKGROUND: Ciliary dysfunction underlies the pathogenesis of both heterotaxy syndrome and primary ciliary dyskinesia (PCD), often with overlapping genetic variants. OBJECTIVE: This case series aims to describe testing postoperative outcomes for infants heterotaxy-associated congenital heart disease (H-CHD) pathogenic variants in genes associated structure or function. METHODS: Infants who unde...

Situs inversus with dextrocardia is a rare congenital anomaly. Azoospermia and situs inversus may be encountered in ciliary dyskinesia syndromes. We report the case of a 30-year-old male who manifested situs inversus totalis, dextrocardia and azoospermia with maturation arrest at primary spermatogenesis who presented with liver abscess. The patient responded well to treatment with i.v. metronid...

Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

Correspondence: Jane S. Lucas, Primary Ciliary Dyskinesia Centre, Clinical and Experimental Sciences Academic Unit (Mail Point 803), University of Southampton Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK. E-mail: [email protected] Margaret W. Leigh, Dept of Pediatrics, University of North Carolina School of Medicine, Chapel...

Primary Ciliary Dyskinesia is a heterogeneous genetic disease that is characterized by cilia dysfunction of the epithelial cells lining the respiratory tracts, resulting in recurrent respiratory tract infections. Despite lifelong physiological therapy and antibiotics, the lungs of affected patients are progressively destroyed, leading to respiratory insufficiency. Recessive mutations in Dynein ...