Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23905
Abstract: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North‐African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and… read more here.
Keywords: primary ciliary; ciliary dyskinesia; pcd; dyskinesia gene ... See more keywords
Situs inversus totalis and prenatal diagnosis of a primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.22862
Abstract: Situs inversus, a condition in which the major visceral organs are reversed from their normal positions in the body, can be detected by prenatal ultrasonography. Often benign, it may be associated with primary ciliary dyskinesia,… read more here.
Keywords: ciliary dyskinesia; situs inversus; primary ciliary;
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24159
Abstract: Primary ciliary dyskinesia (PCD) and cri du chat syndrome (CdCS) are distinct disorders that can co‐occur due to a common genetic locus on chromosome 5p. Chronic respiratory symptoms associated with PCD can occur in CdCS… read more here.
Keywords: cri chat; ciliary dyskinesia; chat syndrome; primary ciliary ... See more keywords
Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24528
Abstract: The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A recently described cytoplasmic ultrastructural change… read more here.
Keywords: diagnosis primary; primary ciliary; diagnosis; ciliary dyskinesia ... See more keywords
Primary ciliary dyskinesia due to CCNO mutations—A genotype‐phenotype correlation contribution
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25440
Abstract: Primary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that CCNO is mutated more frequently than expected,… read more here.
Keywords: primary ciliary; genotype phenotype; due ccno; ciliary dyskinesia ... See more keywords
Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25853
Abstract: Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and… read more here.
Keywords: primary ciliary; ciliary dyskinesia; laterality; beyond chest ... See more keywords
Primary ciliary dyskinesia and fungal infections: Two cases of allergic bronchopulmonary aspergillosis in children
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25945
Abstract: Primary ciliary dyskinesia (PCD) is a rare inherited disease that affects the movement of the respiratory cilia. The main clinical manifestations are chronic upper and lower respiratory symptoms and recurrent lung infections, particularly bacterial and… read more here.
Keywords: primary ciliary; bronchopulmonary aspergillosis; allergic bronchopulmonary; fungal infections ... See more keywords
Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4‐year‐old child: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26167
Abstract: A congenital pulmonary airway malformation (CPAM) combined with primary ciliary dyskinesia (PCD) has not been described in literature. Herein, we described the case of a 4‐year‐old boy who presented to us with recurrent productive cough… read more here.
Keywords: primary ciliary; airway malformation; pulmonary airway; year old ... See more keywords
In children with primary ciliary dyskinesia, which type of lung function test is the earliest determinant of decline in lung health: A systematic review
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26213
Abstract: Primary ciliary dyskinesia is a rare genetic disorder characterized by recurrent sinopulmonary infections and worsening obstructive lung disease. Kidney and brain involvement is less common and is associated with overlapping ciliopathies/syndromes. The lungs are impacted… read more here.
Keywords: primary ciliary; lung function; systematic review; lung ... See more keywords
Using electrical impedance tomography to characterize lung impairment of children with primary ciliary dyskinesia: A pilot cross‐sectional study
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26293
Abstract: In children with primary ciliary dyskinesia (PCD), measures more sensitive than spirometry are needed to characterize underlying pulmonary impairment. Electrical impedance tomography (EIT) is a promising noninvasive method for monitoring the distribution of lung ventilation,… read more here.
Keywords: electrical impedance; primary ciliary; children primary; lung ... See more keywords
Primary ciliary dyskinesia: A multicenter survey on clinical practice and patient management in Italy
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26303
Abstract: There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Italy. read more here.
Keywords: primary ciliary; multicenter survey; dyskinesia multicenter; survey clinical ... See more keywords