Results 91 to 100 of about 16,014 (252)

Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD) [PDF]

, 2017
Background: Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability ...
Behan, Laura, Dell, Sharon D., Dunn Galvin, Audrey, Leigh, Margaret W., Lucas, Jane S., Quittner, Alexandra L.   +5 more
core   +2 more sources

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice [PDF]

, 2021
Zakia Abdelhamed, Marshall Lukacs, Sandra Cindrić, Saima Ali, Heymut Omran, Rolf W. Stottmann   +5 more
openalex   +1 more source

Impact of Anesthesia Strategy on Infant Pulmonary Function Test Quality and Duration

Pediatric Pulmonology, Volume 61, Issue 1, January 2026.
ABSTRACT Introduction While chloral hydrate (CH) has been standard for infant pulmonary function testing (iPFT) sedation, CH shortages are necessitating use of different sedation approaches. We aimed to compare the safety, test duration, and test quality of alternative sedation strategies for iPFT.
Aditi K. Zaveri, Brian Yoho, Brian Blasiole, Erick Forno, Daniel J. Weiner, Kristina Gaietto   +5 more
wiley   +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

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

Kartagener Syndrome: A Rare Genetic Disorder

Journal of Nepal Medical Association, 2009
Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure ...
Kunjan Shakya
doaj   +1 more source

Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia [PDF]

, 2023
Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara Honecker, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E. M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran   +15 more
openalex   +1 more source

Primary Antibody Deficiency in Patients With Chronic Rhinosinusitis: A Call for Immunologic Evaluation Prior to Biologic Therapy

Clinical Otolaryngology, Volume 51, Issue 1, Page 144-152, January 2026.
ABSTRACT Objective Chronic rhinosinusitis (CRS) is prevalent and causes a great negative impact on quality of life. Primary antibody deficiency (PAD) is highly prevalent with CRS compared to the background population. There are efficient treatment options to consider when CRS is a symptom of PAD. The condition seems to be underdiagnosed.
Anita García Petersen, Kasra Zainali‐Gill, Carsten Schade Larsen, Christian Nielsen, Therese Ovesen   +4 more
wiley   +1 more source

Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene

Stem Cell Research, 2020
Dynein axonemal heavy chain 5 (DNAH5) is part of a microtubule-associated protein complex found within the cilia of the lung. Mutations in the DNAH5 gene lead to impaired ciliary function and are linked to primary ciliary dyskinesia (PCD), a rare ...
Nora Drick, Julia Dahlmann, Anais Sahabian, Alexandra Haase, Gudrun Göhring, Nico Lachmann, Felix C. Ringshausen, Tobias Welte, Ulrich Martin, Ruth Olmer   +9 more
doaj   +1 more source

Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella [PDF]

, 2016
Propulsive forces generated by cilia and flagella are used in events that are critical for the thriving of diverse eukaryotic organisms in their environments. Despite distinctive strokes and regulations, the majority of them adopt the 9+2 axoneme that is
Liu, Yi, Yang, Pinfen, Zhu, Xiaoyan
core   +1 more source