scholarly journals Comparison of Multiple Breath Washout and Spirometry in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis and Healthy Controls

2020 ◽  
Vol 17 (9) ◽  
pp. 1085-1093 ◽  
Author(s):  
BreAnna Kinghorn ◽  
Sharon McNamara ◽  
Alan Genatossio ◽  
Erin Sullivan ◽  
Molly Siegel ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Healthy Controls ◽  
Multiple Breath Washout ◽  
Ciliary Dyskinesia

scholarly journals Etiological Work-Up for Adults with Bronchiectasis: A Predictive Diagnostic Score for Primary Ciliary Dyskinesia and Cystic Fibrosis

2021 ◽  
Vol 10 (16) ◽  
pp. 3478
Author(s):  
Frederic Schlemmer ◽  
Agnes Hamzaoui ◽  
Sonia Zebachi ◽  
Aurelie Le Thuaut ◽  
Gilles Mangiapan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Score ◽  
Adult Patients ◽  
Operating Characteristics ◽  
Diagnostic Score ◽  
Receiver Operating Characteristics Curve ◽  
Diagnostic Work ◽  
Work Up ◽  
Ciliary Dyskinesia

Background: etiological investigations are not done for all adult patients with bronchiectasis because of the availability and interpretation of tests. The aim of the study was to elaborate a score to identify patients at high risk of having cystic fibrosis or primary ciliary dyskinesia (CF/PCD), which require appropriate management. Methods: diagnostic work-ups were carried out on a French monocenter cohort, and results were subjected to logistic-regression analyses to identify the independent factors associated with CF/PCD diagnosis and, thereby, elaborate a score to validate in a second cohort. Results: among 188 patients, 158 had no obvious diagnosis and were enrolled in the algorithm-construction group. In multivariate analyses, age at symptom onset (8.69 (2.10–35.99); p = 0.003), chronic ENT symptoms or diagnosed sinusitis (10.53 (1.26–87.57); p = 0.03), digestive symptoms or situs inversus (5.10 (1.23–21.14); p = 0.025), and Pseudomonas. aeruginosa and/or Staphylococcus aureus isolated from sputum (11.13 (1.34–92.21); p = 0.02) are associated with CF or PCD. Receiver operating characteristics curve analysis, using a validation group of 167 patients with bronchiectasis, confirmed the score’s performance with AUC 0.92 (95% CI: 0.84–0.98). Conclusions: a clinical score may help identify adult patients with bronchiectasis at higher risk of having CF or PCD.

Caregiver burden in children with cystic fibrosis and primary ciliary dyskinesia

2019 ◽  
Vol 54 (12) ◽  
pp. 1936-1940 ◽  
Author(s):  
Özge Keniş Coşkun ◽  
Kardelen Gençer Atalay ◽  
Ela Erdem ◽  
Evrim Karadag‐Saygi ◽  
Yasemin Gökdemir ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Caregiver Burden ◽  
Primary Ciliary Dyskinesia ◽  
Ciliary Dyskinesia

scholarly journals Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

2018 ◽  
Vol 51 (2) ◽  
pp. 1701809 ◽  
Author(s):  
Amelia Shoemark ◽  
Thomas Burgoyne ◽  
Robert Kwan ◽  
Mellisa Dixon ◽  
Mitali P. Patel ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Electron Tomography ◽  
Three Dimensional ◽  
Structural Abnormality ◽  
Healthy Controls ◽  
Ultrastructural Studies ◽  
Transmission Electron ◽  
Causal Variants ◽  
Diagnostic Samples ◽  
Ciliary Dyskinesia

In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30% of patients, such as those with DNAH11 mutations, apparently normal ultrastructure makes diagnosis difficult. Genetic analysis supports diagnosis, but may not identify definitive causal variants. Electron tomography, an extension of TEM, produces three-dimensional ultrastructural ciliary models with superior resolution to TEM. Our hypothesis is that tomography using existing patient samples will enable visualisation of DNAH11-associated ultrastructural defects. Dual axis tomograms from araldite-embedded nasal cilia were collected in 13 PCD patients with normal ultrastructure (DNAH11 n=7, HYDIN n=2, CCDC65 n=3 and DRC1 n=1) and six healthy controls, then analysed using IMOD and Chimera software.DNAH11 protein is localised to the proximal ciliary region. Within this region, electron tomography indicated a deficiency of >25% of proximal outer dynein arm volume in all patients with DNAH11 mutations (n=7) compared to other patients with PCD and normal ultrastructure (n=6) and healthy controls (n=6). DNAH11 mutations cause a shared abnormality in ciliary ultrastructure previously undetectable by TEM. Advantageously, electron tomography can be used on existing diagnostic samples and establishes a structural abnormality where ultrastructural studies were previously normal.

Exhaled Molecular Profiles In The Diagnosis Of Cystic Fibrosis And Primary Ciliary Dyskinesia

2012 ◽  
Author(s):  
Tamara Paff ◽  
Marc P. van der Schee ◽  
Johannes M.A. Daniels ◽  
Gerard Pals ◽  
Pieter E. Postmus ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Molecular Profiles ◽  
Ciliary Dyskinesia

scholarly journals Computed Tomography Description of the Uncinate Process Angulation in Patients With Cystic Fibrosis and Comparison With Primary Ciliary Dyskinesia, Nasal Polyposis, and Controls

2019 ◽  
Vol 98 (2) ◽  
pp. 89-93 ◽  
Author(s):  
Rémi Hervochon ◽  
Natacha Teissier ◽  
Jean-Robert Blondeau ◽  
Natacha Remus ◽  
Laurence Bassinet ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Cystic Fibrosis ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Polyposis ◽  
Uncinate Process ◽  
Ct Scans ◽  
Lateral Nasal Wall ◽  
Average Value ◽  
Significant Difference ◽  
Ciliary Dyskinesia

Background: There is a medial bulging of the lateral nasal wall in patients with cystic fibrosis (CF). Aims: Uncinate process (UP) angulation measurements in patients and controls to objectify this bulging. Materials and Methods: Thirty CF, 17 primary ciliary dyskinesia (PCD), 13 chronic rhinosinusitis with polyps (CRSwp), and 30 controls were included. Angles were measured bilaterally on computed tomography (CT) scans: A, B, C on coronal sections, D and E on axial sections. Angle A was between the UP and the orbit inner wall, whereas the others were between UP and midline. Results: There was no significant difference between controls, PCD, and CRSwp. However, CF had 3 statistically different angles with controls, 5 with CRSwp, and 4 with PCD. Angle A average value was 126° (±16°) in patients with CF, 138° (±19°) in controls ( P = .007), 145° (±15°) in PCD ( P = .001), and 138° (±14°) in CRSwp ( P = .001). Angle E average value was 35° (±10°) in patients with CF, 20° (±6°) in controls ( P < .001), 21° (±4°) in PCD ( P < .001), and 22° (±6°) in CRSwp ( P < .001). Conclusion: Uncinate process’s anatomy is only modified in CF: Angle between UP and inner wall of orbit is closed, and angles between UP and midline are opened. Significance: These measures quantify the medial bulging of lateral nasal wall and support nasofibroscopic observations.

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