Evidence map›Paper›PMID 29033599›Full record

ReviewThe application of clinical genetics2017

Primary ciliary dyskinesia: mechanisms and management.

Nadirah Damseh, Nada Quercia, Nisreen Rumman, Sharon D Dell, Raymond H Kim

Abstract readReview
In one paragraph

Review in The application of clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing 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.

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

36 citing papers in PubMed.

  1. Article
  2. Review
  3. Case Report: Minigene assays reveal a novelFrontiers in genetics · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Novel PathogenicJournal of pediatric genetics · 2023
    Article
  12. Siewert-Kartagener's syndrome in a dog.Journal of veterinary science · 2023
    Article
  13. Article
  14. International journal of molecular sciences · 2023
    Review
  15. Case reports in medicine · 2023
    Article
  16. Article
  17. Article
  18. Article
  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.

Nadirah DamsehDivision of Clinical and Metabolic Genetics.
Nada QuerciaDivision of Clinical and Metabolic Genetics.
Nisreen RummanPediatric Department, Makassed Hospital, Jerusalem, Palestine.
Sharon D DellDivision of Respiratory Medicine, Department of Pediatrics, Child Health Evaluative Sciences, Hospital for Sick Children.
Raymond H KimFred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada.

Funding

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

Abstract

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence. Here, we review its clinical features, diagnostic methods, molecular basis, and available therapies.

Indexed as

genetic testingKartagener’s syndromeprimary ciliary dyskinesia

Identifiers

PMID29033599
PMCPMC5614735

What OpenQuestion holds

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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.