ArticleScientific reports2019
Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in bronchiectasis.The European respiratory journal · 2026Article
- Article
- A novel homozygous frameshift mutation in theFrontiers in medicine · 2026Article
- Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Molecular diagnosis & therapy · 2025Article
- Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Orphanet journal of rare diseases · 2024Article
- Primary Ciliary Dyskinesia.Pediatrics · 2024Review
- Racial disparities in primary ciliary dyskinesia: Defining the problem and potential solutions.Pediatric pulmonology · 2023Article
- Primary Ciliary Dyskinesia.CHEST pulmonary · 2023Review
- Cystic Fibrosis: A Descriptive Analysis of Deaths in a Two-Decade Period in Brazil According to Age, Race, and Sex.Diagnostics (Basel, Switzerland) · 2023Article
- Cross-sectional evaluation of the saccharin transit time test for primary ciliary dyskinesia: did we discard this tool too soon?Sao Paulo medical journal = Revista paulista de medicina · 2023Observational
- Observational
- Retrospective Natural History Study ofInternational journal of molecular sciences · 2022Article
- Case Report:Frontiers in genetics · 2022Article
- Case Report: Identification of a NovelFrontiers in genetics · 2021Article
- Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period.The American journal of case reports · 2020Article
- The Primary Ciliary Dyskinesia Computed Tomography Score in Adults with Bronchiectasis: A Derivation und Validation Study.Respiration; international review of thoracic diseasesArticle
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary Ciliary Dyskinesia (PCD) is underdiagnosed in Brazil. We enrolled patients from an adult service of Bronchiectasis over a two-year period in a cross-sectional study. The inclusion criteria were laterality disorders (LD), cough with recurrent infections and the exclusion of other causes of bronchiectasis. Patients underwent at least two of the following tests: nasal nitric oxide, ciliary movement and analysis of ciliary immunofluorescence, and genetic tests (31 PCD genes + CFTR gene). The clinical characterization included the PICADAR and bronchiectasis scores, pulmonary function, chronic Pseudomonas aeruginosa (cPA) colonization, exhaled breath condensate (EBC) and mucus rheology (MR). Forty-nine of the 500 patients were diagnosed with definite (42/49), probable (5/49), and clinical (2/49) PCD. Twenty-four patients (24/47) presented bi-allelic pathogenic variants in a total of 31 screened PCD genes. A PICADAR score > 5 was found in 37/49 patients, consanguinity in 27/49, LD in 28/49, and eight PCD sibling groups. FACED diagnosed 23/49 patients with moderate or severe bronchiectasis; FEV
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