Evidence map›Paper›PMID 35352480›Full record

ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2022

Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.

Kim G Nielsen, Mathias G Holgersen, Suzanne Crowley, June K Marthin

Open access · greenAbstract readReview
In one paragraph

Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.7field-weighted citation impact, top 16% 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

10 citing papers in PubMed, 11 citations in OpenAlex.

  1. Trial
  2. Trial
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Cilia-related diseases.Journal of cellular and molecular medicine · 2023
    Review
  10. Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.American journal of medical genetics. Part C, Seminars in medical genetics · 2022
    Review
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 at 3 institutions in 2 countries.

Kim G NielsenDepartment of Paediatrics and Adolescent Medicine, Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, ERN Accredited, Copenhagen, Denmark.ORCID 0000-0001-5906-9449
Mathias G HolgersenDepartment of Paediatrics and Adolescent Medicine, Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, ERN Accredited, Copenhagen, Denmark.ORCID 0000-0001-9944-6253
Suzanne CrowleyPaediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Rikshospitalet, Oslo, Norway.ORCID 0000-0003-2786-8718
June K MarthinDepartment of Paediatrics and Adolescent Medicine, Danish PCD & chILD Centre, CF Centre Copenhagen, Paediatric Pulmonary Service, ERN Accredited, Copenhagen, Denmark.ORCID 0000-0002-4420-3091
Danish Gas Technology Centre (Denmark) · DKOslo University Hospital · NOUniversity of Copenhagen · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) can be defined as a multiorgan ciliopathy with a dominant element of chronic airway disease affecting the nose, sinuses, middle ear, and in particular, the lower airways. Although most patients with PCD are diagnosed during preschool years, it is obvious that the chronic lung disease starts its course already from birth. The many faces of the clinical picture change, as does lung function, structural lung damage, the burden of infection, and of treatment throughout life. A markedly severe neutrophil inflammation in the respiratory tract seems pervasive and is only to a minimal extent ameliorated by a treatment strategy, which is predominantly aimed at bacterial infections. An ever-increasing understanding of the different aspects, their interrelationships, and possible different age courses conditioned by the underlying genotype is the focus of much attention. The future is likely to offer personalized medicine in the form of mRNA therapy, but to that end, it is of utmost importance that all patients with PCD be carefully characterized and given a genetic diagnosis. In this narrative review, we have concentrated on lower airways and summarized the current understanding of the chronic airway disease in this motile ciliopathy. In addition, we highlight the challenges, gaps, and opportunities in PCD lung disease research.

Indexed as

Ciliary Motility DisordersCiliopathiesPulmonary Disease, Chronic ObstructiveChild, PreschoolGenotypeHumansairway diseasechronicciliarydyskinesiaPrimary

Identifiers

PMID35352480
PMCPMC9314966
OpenAlexW4220696674

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.