Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting
in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians …

The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

Breath tests cover the fraction of nitric oxide in expired gas (F ENO), volatile organic
compounds (VOCs), variables in exhaled breath condensate (EBC) and other …

Background: This document presents the American Thoracic Society clinical practice
guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians …

Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …

Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia associated with respiratory distress in term neonates, chronic otosinopulmonary …

Ciliopathies are a collection of disorders related to cilia dysfunction. Cilia are specialized
organelles that project from the surface of most cells. Motile and primary (sensory) cilia are …

Rationale: The relationship between clinical phenotype of childhood primary ciliary
dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. Objectives: To …