SynthesisOrphanet journal of rare diseases2022
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.
Synthesis in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in bronchiectasis.The European respiratory journal · 2026Article
- [Report of 24 cases of primary ciliary dyskinesia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a multicenter derivation and external validation study.BMC medicine · 2026Article
- BiallelicFrontiers in genetics · 2026Article
- Case report: novelFrontiers in genetics · 2026Article
- Clinical features, misdiagnosis, and treatment of clinically diagnosed complete Kartagener syndrome: A three-case series for primary care.SAGE open medical case reports · 2026Article
- Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.International journal of molecular sciences · 2025Article
- Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.Medicine and pharmacy reports · 2025Article
- Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.Orphanet journal of rare diseases · 2025Article
- The role of Xuanfei Zhisou mixture plus fluticasone propionate suspension in the treatment of variant cough in children and its effect on serum amyloid A and c-reactive protein.Frontiers in medicine · 2025Article
- An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.Journal of internal medicine · 2025Article
- Kartagener Syndrome Complicated by Middle and Lower Lobar Mucinous Adenocarcinoma in the Left Lung.Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia · 2025Article
- Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.Frontiers in pharmacology · 2025Article
- Article
- Loss ofCells · 2024Article
- DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice.eLife · 2024Article
- Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2024Article
- A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review.Frontiers in genetics · 2024Article
- X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due toRespirology case reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about Chinese patients are limited. We aimed to summarize the clinical and genetic spectrum of Chinese PCD patients based on all available literatures.
methodsWe searched Embase, Pubmed, Web of Science and Chinese databases including CNKI, SinoMed and Wanfang from 1981 to 2021, to identify articles reporting patients with PCD in China, which had included information about transmission electron microscopy and/or genetic testing.
resultsA total of 244 Chinese PCD patients in 52 articles were included. Of these patients, the mean age was 13.1 years, and 55 patients (22.5%) were diagnosed with PCD after 18 years old. Compared with patients diagnosed with PCD in childhood or infancy, patients diagnosed with PCD in adulthood had a higher prevalence of chronic wet cough, sinusitis, Pseudomonas aeruginosa (PA) isolation and radiological bronchiectasis as well as worse lung function. 25 PCD-related genes were identified in 142 patients, and DNAH5, DNAH11, CCDC39 and CCDC40 were the most frequently detected mutations. More than half of genetic variants were loss-of-function mutations, and the majority of these variants were seen only once. Correlations between PCD phenotype, genotype and ciliary ultrastructure were also evidenced.
conclusionsDiagnostic delay and under-recognition of PCD remain a big issue in China, which contributes to progressive lung disease and PA infection indicating worse outcome. Specialist equipment and expertise are urgently required to facilitate the early diagnosis and treatment of PCD. TRIAL REGISTRY: PROSPERO; No.: CRD42021257804; URL: www.crd.york.ac.uk/prospero/.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.