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| http://dx.doi.org/10.1183/23120541.00507-2021 | DOI Listing |
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The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis.
Pediatr Pulmonol
April 2024
Department of Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.
Background: International guidelines disagree on how best to diagnose primary ciliary dyskinesia (PCD), not least because many tests rely on pattern recognition. We hypothesized that quantitative distribution of ciliary ultrastructural and motion abnormalities would detect most frequent PCD-causing groups of genes by soft computing analysis.
Methods: Archived data on transmission electron microscopy and high-speed video analysis from 212 PCD patients were re-examined to quantitate distribution of ultrastructural (10 parameters) and functional ciliary features (4 beat pattern and 2 frequency parameters).
Endotypes in bronchiectasis: moving towards precision medicine. A narrative review.
Pulmonology
November 2023
Division of Molecular and Clinical Medicine, Ninewells Hospital and Medical School, Dundee, DD1 9SY, Scotland, United Kinkdom.
Bronchiectasis is a highly complex entity that can be very challenging to investigate and manage. Patients are diverse in their aetiology, symptoms, risk of complications and outcomes. "Endotypes"- subtypes of disease with distinct biological mechanisms, has been proposed as a means of better managing bronchiectasis.
View Article and Find Full Text PDFNovel Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review.
J Clin Med
December 2022
Department of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic condition affecting ciliary function and structure, diagnosed through genotyping, with an estimated incidence of 1 in 15,000-20,000 individuals.
- A 39-year-old Japanese woman suffering from long-term respiratory issues was diagnosed with PCD after whole-exome analysis revealed novel genetic variants and confirmed lack of a key protein in her cilia.
- The case highlights that patients with certain PCD variants may experience moderate ciliary dysfunction, a reduced number of moving cilia, and potentially severe respiratory conditions.
Structured report improves radiology residents' performance in reporting chest high-resolution computed tomography: a study in patients with connective tissue disease.
Diagn Interv Radiol
November 2022
Department of Medicine, Institute of Radiology, University of Udine, Udine, Italy.
PURPOSE To evaluate the performance of radiology residents (RRs) when using a dedicated structured report (SR) template for chest HRCT in patients with suspected connective tissue disease-interstitial lung disease (CTD-ILD), compared to the traditional narrative report (NR). METHODS We retrospectively evaluated 50 HRCT exams in patients with suspected CTD-ILD. A chest-devoted radiologist reported all the HRCT exams as the reference standard, pointing out pulmonary fibrosis findings (i.
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