SynthesisBMC pulmonary medicine2019
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
Synthesis in BMC pulmonary medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- Nontuberculous Mycobacteria in Primary Ciliary Dyskinesia: A National Multicenter Cohort Study.Respiration; international review of thoracic diseases · 2026Article
- Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2024Article
- X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due toRespirology case reports · 2023Article
- The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants.Journal of human genetics · 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
- Sexually dimorphic expression and regulatory sequence of dnali1 in the olive flounder Paralichthys olivaceus.Molecular biology reports · 2021Article
- Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.The American journal of case reports · 2020Article
- Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diagnosis in Asia. To characterize PCD previously reported in Japan, we conducted a systematic review and meta-analysis.
methodsA search using MEDLINE, EMBASE, and Japana Centra Revuo Medicina (in Japanese) databases was carried out to identify articles reporting PCD, Kartagener syndrome, or immotile cilia syndrome in Japanese patients and published between 1985 and 2015.
resultsAfter excluding duplication from 334 reports, we extracted 316 patients according to the criteria. Diagnosis was most frequently made in adulthood (148 patients [46.8%] ≥ 18 years old, 24 patients [7.6%] < 1 year old, 68 patients [21.5%] 1-17 years old and 76 patients [24.1%] lacking information). Of the 230 patients (72.8%) who received EM examination, there were patients with inner dynein arm (IDA) defects (n = 55; 23.9%), outer dynein arm (ODA) defects (14; 6.1%), both ODA and IDA defects (57; 24.8%), other structural abnormalities (25; 10.9%), no abnormalities (4; 1.7%), and no detailed conclusion or description (75; 32.6%).
conclusionDelayed diagnosis of this congenital disease with high frequency of IDA defects and low frequency of ODA defects appear to be historical features of PCD reported in Japan, when EM was a main diagnostic tool. This review highlights problems experienced in this field, and provides basic information to establish a modernized PCD diagnosis and management system in the future.
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