Motile ciliopathies

J Wallmeier, KG Nielsen, CE Kuehni… - Nature reviews Disease …, 2020 - nature.com
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) …

Rhinitis 2020: a practice parameter update

MS Dykewicz, DV Wallace, DJ Amrol… - Journal of Allergy and …, 2020 - Elsevier
This comprehensive practice parameter for allergic rhinitis (AR) and nonallergic rhinitis
(NAR) provides updated guidance on diagnosis, assessment, selection of monotherapy and …

[HTML][HTML] British Thoracic Society Guideline for bronchiectasis in adults

AT Hill, AL Sullivan, JD Chalmers, A De Soyza… - Thorax, 2019 - thorax.bmj.com
CT scanning can also aid in identifying an aetiology of bronchiectasis eg Allergic
bronchopulmonary aspergillosis (ABPA), Non-tuberculous mycobacteria (NTM), primary …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
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 …

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 …

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

L Behan, BD Dimitrov, CE Kuehni… - European respiratory …, 2016 - Eur Respiratory Soc
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to
refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring …

[PDF][PDF] Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

NT Loges, D Antony, A Maver, MA Deardorff… - The American Journal of …, 2018 - cell.com
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …

[HTML][HTML] Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia

B Rubbo, A Shoemark, CL Jackson, R Hirst… - Chest, 2019 - Elsevier
Background Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests.
High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis …

Nitric oxide in primary ciliary dyskinesia

WT Walker, CL Jackson, PM Lackie… - European …, 2012 - Eur Respiratory Soc
Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in
response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by …

Primary ciliary dyskinesia: mechanisms and management

N Damseh, N Quercia, N Rumman… - The application of …, 2017 - Taylor & Francis
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is
predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal …