Primary ciliary dyskinesia in the genomics age

JS Lucas, SD Davis, H Omran… - The Lancet Respiratory …, 2020 - thelancet.com
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …

[HTML][HTML] Non-cystic fibrosis bronchiectasis in children and adolescents: Neglected and emerging issues

M Poeta, M Maglione, M Borrelli, F Santamaria - Pediatrics & Neonatology, 2020 - Elsevier
Pediatric non-cystic fibrosis (CF) bronchiectasis is characterized by endobronchial
suppuration, airway neutrophilic inflammation and poor mucus clearance and is associated …

Structural and functional lung impairment in primary ciliary dyskinesia. Assessment with magnetic resonance imaging and multiple breath washout in comparison to …

S Nyilas, G Bauman, O Pusterla, G Sommer… - Annals of the …, 2018 - atsjournals.org
Rationale: Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by
heterogeneous airway disease. Traditional lung function techniques (eg, spirometry) may …

Image Phenotyping of Preterm-Born Children Using Hyperpolarized 129Xe Lung Magnetic Resonance Imaging and Multiple-Breath Washout

HF Chan, LJ Smith, AM Biancardi, J Bray… - American Journal of …, 2023 - atsjournals.org
Rationale: Preterm birth is associated with low lung function in childhood, but little is known
about the lung microstructure in childhood. Objectives: We assessed the differential …

Magnetic resonance imaging of pulmonary and paranasal sinus abnormalities in children with primary ciliary dyskinesia compared to children with cystic fibrosis

L Wucherpfennig, F Wuennemann… - Annals of the …, 2024 - atsjournals.org
Rationale: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are characterized by
inherited impaired mucociliary clearance leading to chronic progressive lung disease as …

[HTML][HTML] Primary Ciliary Dyskinesia: A Clinical Review

KA Despotes, MA Zariwala, SD Davis, TW Ferkol - Cells, 2024 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy,
characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract …

[HTML][HTML] Lung function in children with primary ciliary dyskinesia

VA Ferraro, RJ Castaldo, V Tonazzo, S Zanconato… - Children, 2023 - mdpi.com
Background: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary
clearance that results in accumulation of mucus and bacteria in the airways. Lower …

[HTML][HTML] Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

F Gahleitner, J Thompson, CL Jackson… - ERJ Open …, 2021 - Eur Respiratory Soc
Objectives Disease-specific, well-defined and validated clinical outcome measures are
essential in designing research studies. Poorly defined outcome measures hamper pooling …

Structural and Functional Lung Impairment in PCD: Assessment with MRI and Multiple Breath Washout in Comparison to Spirometry.

SM Nyilas, G Bauman, O Pusterla… - Annals of the …, 2018 - boris.unibe.ch
RATIONALE Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by
heterogeneous airway disease. Traditional lung function techniques (eg spirometry) may …

[HTML][HTML] Simultaneous multiple breath washout and oxygen-enhanced magnetic resonance imaging in healthy adults

AC Kentgens, O Pusterla, G Bauman, F Santini… - … medicine and research, 2023 - Elsevier
Lung function testing and lung imaging are commonly used techniques to monitor
respiratory diseases, such as cystic fibrosis (CF). The nitrogen (N 2) multiple-breath washout …