Evidence map›Paper›PMID 38891105›Full record

ReviewCells2024

Primary Ciliary Dyskinesia: A Clinical Review.

Katherine A Despotes, Maimoona A Zariwala, Stephanie D Davis, Thomas W Ferkol

Registry-linked trialAbstract readReview
In one paragraph

Review in Cells, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07740538 (Associations Between the Status of Malnutrition and Sarcopenia in Children and Adolescents With Primary Ciliary Dyskinesia), which is not on this map. Cited by 62 papers.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

NCT07740538 not yet recruitingnot on this mapstarted 2026, after this paper: background citation

Associations Between the Status of Malnutrition and Sarcopenia in Children and Adolescents With Primary Ciliary Dyskinesia

Typeobservational_patient_registrySponsorIzmir Democracy UniversityRan2026 to 2028Enrolled15ConditionsPrimary Ciliary Dyskinesia (PCD)ArmsPhysical assessments of individuals
3 · Its place in the literature

Who cites it

62 citing papers in PubMed.

  1. Article
  2. Article
  3. AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways.American journal of respiratory and critical care medicine · 2026
    Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Observational
  11. Article
  12. Article
  13. Article
  14. [Report of 24 cases of primary ciliary dyskinesia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Rule-Based Synthesis of Microscopy Images by Diffusion Refinement.Journal of imaging informatics in medicine · 2026
    Article

2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Katherine A DespotesDepartment of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0002-8464-6946
Maimoona A ZariwalaDepartment of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Stephanie D DavisDepartment of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Thomas W FerkolDepartment of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FERKOL, THOMAS W · 2009 to 2023
$20.0M
Pathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2M
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to PhenotypeR01HL117836 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OSTROWSKI, LAWRENCE E · 2013 to 2023
$4.4M
New test for the diagnosis of acute respiratory infection that detects viruses and evaluates host gene expression in a nasal sampleR21AI146999 · NIAID · WASHINGTON UNIVERSITY · PI STORCH, GREGORY A. · 2019 to 2020
$432k
Characterizing respiratory exacerbations in primary ciliary dyskinesiaR21TR003860 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FERKOL, THOMAS W, STORCH, GREGORY A. · 2022 to 2023
$428k
NCATS NIH HHS R21 TR003860NHGRI NIH HHS U24 HG009650NHLBI NIH HHS R01 HL071798NHLBI NIH HHS R01 HL117836NHLBI NIH HHS U54 HL096458NIAID NIH HHS R21 AI146999NIH HHS U2CTR002818NIH HHS U54HL096458
6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects. Diagnosis relies on a combination of tests for confirmation, including nasal nitric oxide (nNO) measurements, high-speed videomicroscopy analysis (HSVMA), immunofluorescent staining, axonemal ultrastructure analysis via transmission electron microscopy (TEM), and genetic testing. Notably, there is no single gold standard confirmatory or exclusionary test. Currently, 54 causative genes involved in cilia assembly, structure, and function have been linked to PCD; this rare disease has a spectrum of clinical manifestations and emerging genotype-phenotype relationships. In this review, we provide an overview of the structure and function of motile cilia, the emerging genetics and pathophysiology of this rare disease, as well as clinical features associated with motile ciliopathies, novel diagnostic tools, and updates on genotype-phenotype relationships in PCD.

Indexed as

CiliaCiliary Motility DisordersHumansPhenotypebronchiectasisciliagenotypemotile ciliopathyphenotypeprimary ciliary dyskinesia

Identifiers

PMID38891105
PMCPMC11171568

What OpenQuestion holds

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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.