Results 81 to 90 of about 9,533 (204)

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey [PDF]

, 2015
Primary ciliary dyskinesia and heterotaxy are rare but not mutually exclusive disorders, which result from cilia dysfunction. Heterotaxy occurs in at least 12.1% of primary ciliary dyskinesia patients, but the prevalence of primary ciliary dyskinesia ...
Tolleson-Rinehart, Sue, Zariwala, Maimoona A., Leigh, Margaret W., Shapiro, Adam J., Knowles, Michael R.   +4 more
core   +2 more sources

Clinical and Genetic Study of a Pseudo‐Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1‐Associated Family Reported in Chinese Population

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Zhuoyao Guo, Ping Li, Gaoli Jiang, Weicheng Chen   +3 more
wiley   +1 more source

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. [PDF]

, 2019
Primary ciliary dyskinesia (PCD) is a hereditary defect of motile cilia in humans and several domestic animal species. Typical clinical findings are chronic recurrent infections of the respiratory tract and fertility problems.
Danika Bannasch (102080), Minor, Katie M, Kevin Batcher (7340258), Michelle Im Hof Gut (7340243), Katie M. Minor (7340252), Gut, Michelle Im Hof, Udo Hetzel (162762), Louise Pettitt (814652), Kaisa Kyöstilä (158442), Elizabeth W. Howerth (7340246), Cathryn Mellersh (838866), Im Hof Gut, Michelle, Mellersh, Cathryn, Fabienne Leuthard (7340249), Leuthard, Fabienne, Linda Anderegg (7340240), Hetzel, Udo, Leuthard, Fabienne Nadja, Howerth, Elizabeth W, Batcher, Kevin, James R. Mickelson (7340255), Kyöstilä, Kaisa, Lohi, Hannes, Howerth, Elizabeth W., Jagannathan, Vidya, Pettitt, Louise, Jagannathan, Vidhya, Mickelson, James R, Leeb, Tosso, Vidhya Jagannathan (13914), Minor, Katie M., Hannes Lohi (102236), Tosso Leeb (81674), Anderegg, Linda, Bannasch, Danika, Mickelson, James R.   +35 more
core   +1 more source

Pulmonary Exacerbations and Treatment in PCD: A Narrative Review

Pediatric Pulmonology, Volume 61, Issue 7, July 2026.
ABSTRACT Primary ciliary dyskinesia (PCD) is a rare genetic disorder that causes chronic lung disease. Patients with PCD often experience pulmonary exacerbations with worsening symptoms and lung function decline. This review provides an overview of the existing knowledge regarding the PEx in PCD and reveals understudied topics that should be addressed ...
Pinelopi Anagnostopoulou, Stephanie Thee, Panayiotis Kouis, Panayiotis Yiallouros   +3 more
wiley   +1 more source

Non‐Linear Dysanaptic Lung Growth in Patients With Post‐Infectious Bronchiolitis Obliterans

Pediatric Pulmonology, Volume 61, Issue 7, July 2026.
ABSTRACT Introduction Few studies have assessed longitudinal pulmonary function outcomes in post‐infectious bronchiolitis obliterans (PIBO). This study analyzes pulmonary function changes from patients with PIBO at a single center with respect to time and inciting respiratory pathogen.
James M. Clegg, Ferdinand Cacho, Matthew D. McGraw, Michael G. O'Connor   +3 more
wiley   +1 more source

Alexithymia in primary ciliary dyskinesia

Pediatric Pulmonology
AbstractObjectiveRecent evidence suggests that alexithymic deficits in emotional processing may also affect physical health, and alexithymia may also be associated with organic disorders. The emotional well‐being of patients with primary ciliary dyskinesia (PCD) is often negatively affected by uncertainty about the prognosis, lack of ongoing medical ...
Hanife Tuğçe Çağlar, Sevgi Pekcan, Semih Erden, Gökçen Ünal, Aslı İmran Yılmaz, Fatih Ercan, Suat Savaş, Fatma Nur Ayman, Hasan Arif İstanbullu   +8 more
openaire   +2 more sources

Primary ciliary dyskinesia: A review

Rare
Context: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by impaired mucociliary clearance in the respiratory tract due to abnormal ciliary motility. The disease is often diagnosed late with bronchiectasis.
Shally Awasthi, Shambhavi Mishra
doaj   +1 more source

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

Molecular Genetics & Genomic Medicine, 2019
Background OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial‐digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X‐linked intellectual disability ...
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala   +8 more
doaj   +1 more source

Postural Influence on Ventilation Efficiency and Relationship With Oxygen‐Enhanced MRI in Cystic Fibrosis

Pediatric Pulmonology, Volume 61, Issue 7, July 2026.
ABSTRACT Background Pulmonary function tests (PFTs) and medical imaging in cystic fibrosis (CF) occasionally show discrepancies in severity levels, potentially due to different postures during testing (seated PFTs and supine imaging). To assess this, we utilised multiple breath washout with Short extension (MBWShX) and oxygen‐enhanced MRI (OE‐MRI ...
Constantinos Efthyvoulou, Thomas Semple, Mary Abkir, Marta Tibiletti, Simon Padley, Geoff J. M. Parker, Jane C. Davies, Christopher Short   +7 more
wiley   +1 more source

Primary ciliary dyskinesia and the middle ear [PDF]

, 1991
The middle ear cavity and the eustachian tube contain a well-functioning mucociliary clearance system. To learn more about the importance of this mucociliary clearance, we studied patients with primary ciliary dyskinesia, in whom mucociliary clearance is
van der Baan, S., S. Van Der Baan
core   +1 more source