Advances in bronchiectasis:endotyping, genetics, microbiome, and disease heterogeneity [PDF]
Bronchiectasis is characterised by pathological dilation of the airways. More specifically, the radiographic demonstration of airway enlargement is the common feature of a heterogeneous set of conditions and clinical presentations.
Chalmers, James D. +2 more
core +2 more sources
Lung organoids as a human system for Mycobacteria infection modeling and drug testing
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza +4 more
wiley +1 more source
Modern Approaches to the Diagnosis and Management of Children With Primary Ciliary Dyskinesia
The article presents the most modern positions of healthcare delivery for children with primary ciliary dyskinesia. Symptoms of this pathology in clinical practice vary that is conditioned by genetic heterogeneity of the disease.
A. A. Baranov +11 more
doaj +1 more source
General and Specific Promotion of Flagellar Assembly by a Flagellar Nucleoside Diphosphate Kinase [PDF]
Nucleoside diphosphate kinases (NDKs) play a central role in diverse cellular processes using the canonical NDK activity or alternative mechanisms that remain poorly defined.
Ciruelas, Kristine S. +9 more
core +1 more source
A NIMA-related kinase suppresses the flagellar instability associated with the loss of multiple axonemal structures [PDF]
CCDC39 and CCDC40 were first identified as causative mutations in primary ciliary dyskinesia patients; cilia from patients show disorganized microtubules, and they are missing both N-DRC and inner dynein arms proteins.
Chen, Fan +6 more
core +4 more sources
Situs Inversus Totalis: A Case Report and Literature Review
ABSTRACT Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror‐image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy‐related disorders, most notably Primary Ciliary Dyskinesia (PCD).
Xin Du +4 more
wiley +1 more source
Automating the measurement of physiological parameters: a case study in the image analysis of cilia motion [PDF]
International audienceAs image processing and analysis techniques improve, an increasing number of procedures in bio-medical analyses can be automated.
Bequignon, E +7 more
core +4 more sources
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang +21 more
wiley +1 more source
Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable? [PDF]
Primary Ciliary Dyskinesia (PCD) is a rare inherited disease with impaired mucociliary clearance. Airway clearance techniques (ACTs) are commonly recommended for patients with PCD to facilitate mucus clearance, despite a lack of evidence in this group ...
Barbato +42 more
core +1 more source
ABSTRACT Question Cystic fibrosis (CF) affects > 11,300 people in the UK and is characterized by thick, sticky mucus in the lungs, leading to recurrent infections, inflammation, and progressive respiratory decline. Chest physiotherapy remains a cornerstone of airway clearance; however, many people with CF (pwCF) find it burdensome and time‐consuming ...
Emily Taylor +36 more
wiley +1 more source

