Evidence map›Paper›PMID 30209139›Full record

ArticleBMJ case reports2018

Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia.

Hasan Ghandourah, Sharon D Dell

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.Diagnostics (Basel, Switzerland) · 2022
    Article
  3. Novel Compound Heterozygous Variants inPharmacogenomics and personalized medicine · 2022
    Article
  4. 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

2 authors at 1 institution in 1 country.

Hasan GhandourahDivision of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Sharon D DellDivision of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
University of Toronto · CA

Funding

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

Abstract

Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD.

Indexed as

Delayed DiagnosisDiagnosis, DifferentialFemaleHumansInfant, NewbornKartagener SyndromeLungMutationPneumonectomyProteinsRespiratory Distress Syndrome, NewbornTomography, X-Ray ComputedCCDC40 protein, humanProteinsgeneticspaediatricspaediatric surgeryrespiratory medicine

Identifiers

PMID30209139
PMCPMC6144183
OpenAlexW2892368445

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.