ReviewAmerican journal of respiratory and critical care medicine2013
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.
Review in American journal of respiratory and critical care medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 249 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
249 citing papers in PubMed, 7 syntheses or guidelines pooled it, 499 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols.Annals of the American Thoracic Society · 2020Guideline
- Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.BMC pulmonary medicine · 2019Pooled it
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.American journal of respiratory and critical care medicine · 2018Pooled it
- Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review.American journal of rhinology & allergy · 2017Pooled it
- Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.Annals of the American Thoracic Society · 2017Pooled it
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.BMC pulmonary medicine · 2016Trial
- Atypical Kartagener syndrome in a 40-year-old woman: Computed Tomography findings of situs inversus with bronchiectasis and infertility.Radiology case reports · 2026Article
- Acute Appendicitis as an Incidental Diagnosis of Situs Inversus Totalis: A Case Report and Literature Review.Cureus · 2026Article
- Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.Scientific reports · 2026Article
- Developmental Progress and Future Potential for Inhaled Biologics in the Treatment of Respiratory Diseases.Drugs · 2026Review
- Advances in Health-Related Quality of Life in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Article
- Nontuberculous Mycobacteria in Primary Ciliary Dyskinesia: A National Multicenter Cohort Study.Respiration; international review of thoracic diseases · 2026Article
- Tubulin glutamylation: a key regulator of flagella, cilia, centrosomes, and disease pathways.Journal of biomedical science · 2026Review
- Function and Structure Relationships With Inflammation Differ in Two Chronic Suppurative Lung Diseases.Pediatric pulmonology · 2026Article
- Physiological responses to cardiopulmonary and field exercise tests in primary ciliary dyskinesia compared with healthy peers.European journal of applied physiology · 2026Article
- Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms.Clinical case reports · 2026Article
- Integrated traditional Chinese medicine and Western medicine strategies for the treatment of bronchiectasis: a comprehensive review.Chinese medicine · 2026Review
189 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary ultrastructure and function. Diagnostic capabilities have recently benefitted from (1) documentation of low nasal nitric oxide production in PCD and (2) discovery of biallelic mutations in multiple PCD-causing genes. The use of these complementary diagnostic approaches shows that at least 30% of patients with PCD have normal ciliary ultrastructure. More accurate identification of patients with PCD has also allowed definition of a strong clinical phenotype, which includes neonatal respiratory distress in >80% of cases, daily nasal congestion and wet cough starting soon after birth, and early development of recurrent/chronic middle-ear and sinus disease. Recent studies, using advanced imaging and pulmonary physiologic assessments, clearly demonstrate early onset of lung disease in PCD, with abnormal air flow mechanics by age 6-8 years that is similar to cystic fibrosis, and age-dependent onset of bronchiectasis. The treatment of PCD is not standardized, and there are no validated PCD-specific therapies. Most patients with PCD receive suboptimal management, which should include airway clearance, regular surveillance of pulmonary function and respiratory microbiology, and use of antibiotics targeted to pathogens. The PCD Foundation is developing a network of clinical centers, which should improve diagnosis and management of PCD.
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Registered trials
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.