ReviewUltrastructural pathology
Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
Review in Ultrastructural pathology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis 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
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics.The Journal of clinical investigation · 2026Article
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Case report: novelFrontiers in genetics · 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
- A protein complex in the extreme distal tip of vertebrate motile cilia controls their organization, length, and function.Nature communications · 2025Article
- 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
- Primary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach.Journal of clinical medicine · 2025Review
- CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.International journal of molecular sciences · 2025Article
- A 28-year-old woman with chronic respiratory symptoms: navigating a diagnostic puzzle.Breathe (Sheffield, England) · 2025Article
- A protein complex in the extreme distal tip of vertebrate motile cilia controls their organization, length, and function.bioRxiv : the preprint server for biology · 2025Article
- Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.Medicine and pharmacy reports · 2025Article
- Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.American journal of medical genetics. Part A · 2025Article
- Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.Frontiers in molecular biosciences · 2025Article
- Recognizing clinical features of primary ciliary dyskinesia in the perinatal period.Journal of perinatology : official journal of the California Perinatal Association · 2024Review
- Article
- The utility of nasal nitric oxide in the diagnostic evaluation of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.Cureus · 2024Article
- Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review.Frontiers in pediatrics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes. Autosomal recessive mutations in DNAH11 and HYDIN produce normal TEM ciliary ultrastructure, while mutations in genes encoding for radial spoke head proteins result in some cross-sections with non-diagnostic alterations in the central apparatus interspersed with normal ciliary cross-sections. Mutations in nexin link and dynein regulatory complex genes lead to a collection of different ciliary ultrastructures; mutations in CCDC65, CCDC164, and GAS8 produce normal ciliary ultrastructure, while mutations in CCDC39 and CCDC40 cause absent inner dynein arms and microtubule disorganization in some ciliary cross-sections. Mutations in CCNO and MCIDAS cause near complete absence of respiratory cilia due to defects in generation of multiple cellular basal bodies; however, the scant cilia generated may have normal ultrastructure. Lastly, a syndromic form of PCD with retinal degeneration results in normal ciliary ultrastructure through mutations in the RPGR gene. Clinicians must be aware of these genetic causes of PCD resulting in non-diagnostic TEM ciliary ultrastructure and refrain from using TEM of respiratory cilia as a test to rule out 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.