Trial reportChest2014
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
Trial report in Chest, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00323167 (Rare Genetic Disorders of the Airways), which is not on this map. Cited by 131 papers, 8 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.
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
Who cites it
131 citing papers in PubMed, 8 syntheses or guidelines pooled it, 230 citations in OpenAlex.
- Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.Clinical genetics · 2026Pooled it
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- 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
- The patient's experience of primary ciliary dyskinesia: a systematic review.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2017Pooled it
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.BMJ case reports · 2015Pooled it
- Article
- Global research trends in heterotaxy syndrome with congenital heart defects: a 20-year bibliometric analysis (2006-2025).Translational pediatrics · 2026Article
- Article
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- Early Life Disease Burden and Outcomes in Children Diagnosed With Primary Ciliary Dyskinesia in Infancy.Pediatric pulmonology · 2026Article
- Biallelic TruncatingInternational journal of molecular sciences · 2026Review
- Improved Surgical Management of Complex Neonates With Heterotaxy Syndrome.World journal for pediatric & congenital heart surgery · 2026Article
- Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder.The application of clinical genetics · 2026Article
- Patients' research priorities and participation in primary ciliary dyskinesia research.BMJ open respiratory research · 2025Article
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
- Incidental Diagnosis of Situs Inversus Totalis in a 45-Year-Old Male Who Presented With Acute Asthma Exacerbation: A Case Report and Brief Literature Review.Clinical case reports · 2025Article
- Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia.Orphanet journal of rare diseases · 2025Article
71 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Commented on byResponse.2014
Authors and funding
17 authors at 9 institutions in 2 countries.
Funding
Abstract
backgroundMotile cilia dysfunction causes primary ciliary dyskinesia (PCD), situs inversus totalis (SI), and a spectrum of laterality defects, yet the prevalence of laterality defects other than SI in PCD has not been prospectively studied.
methodsIn this prospective study, participants with suspected PCD were referred to our multisite consortium. We measured nasal nitric oxide (nNO) level, examined cilia with electron microscopy, and analyzed PCD-causing gene mutations. Situs was classified as (1) situs solitus (SS), (2) SI, or (3) situs ambiguus (SA), including heterotaxy. Participants with hallmark electron microscopic defects, biallelic gene mutations, or both were considered to have classic PCD.
resultsOf 767 participants (median age, 8.1 years, range, 0.1-58 years), classic PCD was defined in 305, including 143 (46.9%), 125 (41.0%), and 37 (12.1%) with SS, SI, and SA, respectively. A spectrum of laterality defects was identified with classic PCD, including 2.6% and 2.3% with SA plus complex or simple cardiac defects, respectively; 4.6% with SA but no cardiac defect; and 2.6% with an isolated possible laterality defect. Participants with SA and classic PCD had a higher prevalence of PCD-associated respiratory symptoms vs SA control participants (year-round wet cough, P < .001; year-round nasal congestion, P = .015; neonatal respiratory distress, P = .009; digital clubbing, P = .021) and lower nNO levels (median, 12 nL/min vs 252 nL/min; P < .001).
conclusionsAt least 12.1% of patients with classic PCD have SA and laterality defects ranging from classic heterotaxy to subtle laterality defects. Specific clinical features of PCD and low nNO levels help to identify PCD in patients with laterality defects. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT00323167; URL: www.clinicaltrials.gov.
Indexed as
Identifiers
What OpenQuestion holds
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.