Oct 2026· Pediatric Pulmonology· Vol 61· 0 citations· 21 references
Medicine
TL;DR
This retrospective study aimed to describe the clinical characteristics of patients, and algorithm used to diagnose PCD in New South Wales between 2014 and 2024.
Abstract
Primary Ciliary Dyskinesia (PCD) is a genetic disorder associated with recurrent infections and irreversible airway damage. No single diagnostic test exists, necessitating use of a diagnostic algorithm that varies internationally. This retrospective study aimed to describe the clinical characteristics of patients, and algorithm used to diagnose PCD in New South Wales between 2014 and 2024.
Prevalence and longitudinal changes of respiratory microbiological profile in children and young adults with PCD, and their association with clinical, functional, and radiological features are evaluated.
V. Ferraro, Valentina Tonazzo, A. Pandolfo et al.· Pediatric Pulmonology· 0 citations
Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non‐motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss. However, congenital mi...
A. Bergman-Sieger, Marc-André Turcot, L. E. Ostrowski et al.· Pediatric Pulmonology· 0 citations
The need to consider Primary ciliary dyskinesia (PCD) in patients with chronic sinonasal disease and situs inversus, even without bronchiectasis, is highlighted.
Sanyam K. Mahajan, Rubina Galib, Mehtab Alam· International journal of re...· 0 citations
Galli, Recher et al. describe two patients with hypogammaglobulinemia associated with myotonic dystrophy type 1 (DM1), a rare and underdiagnosed monogenic neuromuscular disorder. The authors present clinical and immunophenotypic clues to aid clinical immunologists in making a correct diagnosis, while discussing the kno...
E. Galli, Christoph T. Berger, T. Daikeler et al.· Journal of human immunity· 0 citations
This JAMA Clinical Guidelines Synopsis summarizes the 2025 update of the American Academy of Otolaryngology–Head and Neck Surgery Foundation guideline on diagnosis and management of acute rhinosinusitis in adults.
James Fan, Jason T. Alexander· Journal of the American Medi...· 0 citations
AOSD is challenging to diagnose. Chong et al. examine the clinical utility of skin biopsy, an inexpensive and widely available test, in 16 patients with AOSD. They demonstrate that dyskeratotic keratinocytes in the superficial layers are useful for diagnosing AOSD.
Derrick H. Y. Chong, Caroline Spaner, Ibrahim Elsharawi et al.· Journal of human immunity· 0 citations
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