A comprehensive approach for the diagnosis of primary ciliary dyskinesia—experiences from the first 100 patients of the PCD-UNIBE diagnostic center

L Müller, ST Savas, SA Tschanz, A Stokes, A Escher… - Diagnostics, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia.
Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is …

Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms

M Nussbaumer, E Kieninger, SA Tschanz… - ERJ Open …, 2021 - Eur Respiratory Soc
Background Diagnosis of primary ciliary dyskinesia (PCD) is challenging since there is no
gold standard test. The European Respiratory (ERS) and American Thoracic (ATS) Societies …

Towards an artificial human lung: modelling organ-like complexity to aid mechanistic understanding

MV Humbert, CM Spalluto, J Bell… - European …, 2022 - Eur Respiratory Soc
Respiratory diseases account for over 5 million deaths yearly and are a huge burden to
healthcare systems worldwide. Murine models have been of paramount importance to …

Challenges in diagnosing primary ciliary dyskinesia in a Brazilian tertiary hospital

MDC Toro, JD Ribeiro, FAL Marson, É Ortiz… - Genes, 2022 - mdpi.com
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical
manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD …

High-speed video microscopy for primary ciliary dyskinesia diagnosis: A study of ciliary motility variations with time and Temperature

A Reula, J Pitarch-Fabregat, J Milara, J Cortijo… - Diagnostics, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare disease resulting from a defect in ciliary function
that generates, among other issues, chronic upper and lower respiratory tract infections …

Temporal stability of ciliary beating post nasal brushing, modulated by storage temperature

N Bricmont, R Bonhiver, L Benchimol, B Louis… - Diagnostics, 2023 - mdpi.com
Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory
cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations …

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia

A Fleming, M Galey, L Briggs, M Edwards… - European Journal of …, 2024 - nature.com
Primary ciliary dyskinesia (PCD), a disorder of the motile cilia, is now recognised as an
underdiagnosed cause of bronchiectasis. Accurate PCD diagnosis comprises clinical …

Comparison of ciliary beat frequencies at different temperatures in young adults

W Nikolaizik, J Hahn, M Bauck, S Weber - ERJ Open Research, 2020 - Eur Respiratory Soc
Rationale Direct visualisation of ciliary beat pattern (CBP) and ciliary beat frequency (CBF)
has been recommended as the first-line diagnostic test in patients suspected of having …

[HTML][HTML] The primary ciliary dyskinesia computed tomography score in adults with bronchiectasis: a derivation und validation study

J Rademacher, S Dettmer, J Fuge, J Vogel-Claussen… - Respiration, 2021 - karger.com
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder which requires a
complex diagnostic workup. Thus, an easy and widely available screening method would be …

Respiratory Aspects of Primary Ciliary Dyskinesia

W De Jesús-Rojas, AJ Shapiro… - Clinics in Chest …, 2024 - chestmed.theclinics.com
Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting motile cilia in the
respiratory tract. 1 The estimated prevalence is 1: 7500 to 1: 15,000, although recent studies …