Evidence map›Paper›PMID 38695103›Full record

ReviewPediatrics2024

Primary Ciliary Dyskinesia.

Wallace B Wee, BreAnna Kinghorn, Stephanie D Davis, Thomas W Ferkol, Adam J Shapiro

Open access · bronzeAbstract readReview
In one paragraph

Review in Pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
13.0field-weighted citation impact, top 1% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 33 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. BiallelicFrontiers in genetics · 2026
    Article
  9. Research Progress on the Mechanisms of High Mucus Secretion in the Airway: A Scoping Review.International journal of chronic obstructive pulmonary disease · 2026
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Primary ciliary dyskinesia.Paediatrics & child health · 2025
    Article
  18. Review
  19. Article
  20. Article
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

5 authors at 4 institutions in 2 countries.

Wallace B WeeHospital for Sick Children, Toronto, Ontario, Canada.
BreAnna KinghornUniversity of Washington, School of Medicine, Pediatrics, Seattle, Washington.
Stephanie D DavisDepartment of Pediatrics, University of North Carolina School of Medicine, UNC Children's, Chapel Hill, North Carolina.
Thomas W FerkolDepartment of Pediatrics, University of North Carolina School of Medicine, UNC Children's, Chapel Hill, North Carolina.
Adam J ShapiroMcGill University Health Centre Research Institute, Montreal Children's Hospital, Montreal, Quebec, Canada.
University of North Carolina at Chapel Hill · USHospital for Sick Children · CAMontreal Children's Hospital · CAUniversity of Washington · US

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
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ROSENFELD, MARGARET · 2009 to 2023
$20.0M
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 TR003860NCATS NIH HHS U2C TR002818NHLBI NIH HHS U54 HL096458
6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by dysfunctional motile cilia and abnormal mucociliary clearance, resulting in chronic sino-oto-pulmonary disease, neonatal respiratory distress, subfertility, and organ laterality defects. Over the past 2 decades, research and international collaborations have led to an improved understanding of disease prevalence, classic and variable phenotypes, novel diagnostics, genotype-phenotype correlations, long term morbidity, and innovative therapeutics. However, PCD is often underrecognized in clinical settings and the recent analyses of genetic databases suggest that only a fraction of these patients are being accurately diagnosed. Knowledge of significant advancements, from pathophysiology to the expanded range of clinical manifestations, will have important clinical impacts. These may include increasing disease recognition, improving diagnostic testing and management, and establishing an adequate pool of affected patients to enroll in upcoming clinical therapeutic trials. The objective of this state-of-the-art review is for readers to gain a greater understanding of the clinical spectrum of motile ciliopathies, cutting-edge diagnostic practices, emerging genotype-phenotype associations, and currently accepted management of people with PCD.

Indexed as

Kartagener SyndromeCiliary Motility DisordersHumansPhenotype

Identifiers

PMID38695103
PMCPMC11153322
OpenAlexW4396585664

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.