Evidence map›Paper›PMID 40344341›Full record

ArticlePediatric pulmonology2025

The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia.

Andrew T Barber, Stephanie D Davis, Thomas W Ferkol, Adam J Shapiro, Jeff Atkinson, Scott D Sagel, Sharon D Dell, Kenneth Olivier, Carlos Milla, Margaret Rosenfeld and 8 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric pulmonology, 2025. 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
–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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Noncoding DNA Variants in Primary Ciliary Dyskinesia: Another Piece of the Diagnostic Puzzle.American journal of respiratory and critical care medicine · 2025
    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

18 authors.

Andrew T BarberDepartment of Pediatrics, Virginia Commonwealth University, Richmond, Virginia, USA.
Stephanie D DavisDepartment of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.
Thomas W FerkolDepartment of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.
Adam J ShapiroDepartment of Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.
Jeff AtkinsonWashington University School of Medicine, St. Louis, Missouri, USA.
Scott D SagelDepartment of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.ORCID http://orcid.org/0000-0001-6172-4465
Sharon D DellDepartment of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.
Kenneth OlivierDepartment of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Carlos MillaDepartment of Pediatrics, Stanford University, Palo Alto, California, USA.
Margaret RosenfeldDepartment of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
Lang LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Feng-Chang LinDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Kelli M SullivanDepartment of Pediatrics and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Nicole A CappsDepartment of Pediatrics and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Maimoona A ZariwalaDepartment of Pathology/Lab Medicine and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Michael R KnowlesDepartment of Medicine and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Margaret W LeighDepartment of Pediatrics and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

Funding

Colorado Clinical and Translational Sciences Institute (CCTSI)UM1TR004399 · NCATS · UNIVERSITY OF COLORADO DENVER · PI JANINE A HIGGINS, RONALD J. SOKOL · 2023 to 2026
$30.7M
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
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
Pathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2M
NCATS NIH HHS UM1 TR004399NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS R01 HL071798NHLBI NIH HHS U54 HL096458Supported by the National Institute of Health (NIH) U54HL096458 funded by the Office of Rare Disease Research (National Center for Advancing Translational Science) and administered by NHLBI and the Carolina For The Kids Grant Program, US NIH/NHLBI grant R01HL071798 to MRK and MAZ, NIH/NCATS Colorado CTSA Grant Number UM1 TR004399. This study was performed at the University of North Carolina at Chapel Hill under IRB numbers 05-2979 and 14-1225.
6 · The paper itself

Abstract

objectiveTo evaluate the relationship between ciliary ultrastructure/genotype and prevalence of neonatal respiratory distress (NRD) in primary ciliary dyskinesia (PCD). STUDY

designThis was a retrospective analysis from a multicenter, prospective study of children and adults with PCD. Participants were classified by ultrastructural defect associated with their diagnostic genetic variants: 1) outer dynein arm defect alone (ODA), 2) outer plus inner dynein arm defect (ODA/IDA), 3) inner dynein arm defect with microtubular disorganization (IDA/MTD), 4) DNAH11 (encodes ODA protein but has normal ultrastructure), and 5) normal/near-normal/other. The likelihood of NRD between ultrastructure groups or genotypes was evaluated by multivariate analysis using logistic regression, controlled for age, gender, race, and variant type. Similar analysis was performed within individual genotypes to assess association of NRD with the presence of 2 loss-of-function variants.

resultsOf the 455 participants analyzed, 305 (67.0%) reported NRD. The odds ratio for NRD in the DNAH11 group was significantly lower (OR: 0.35, 95% CI: 0.16-0.76) compared to NRD in the ODA group. Within the DNAH5 group, those with two loss-of-function variants were more likely to have NRD compared to those with possible residual function variants (OR: 3.06, 95% CI: 1.33-7).

conclusionNRD is less common in those with DNAH11 variants, thus a high index of suspicion should remain for PCD in the absence of NRD. Variant type (loss-of-function vs. residual function) may explain phenotypic variability within individual PCD genes.

Indexed as

CiliaCiliary Motility DisordersKartagener SyndromeRespiratory Distress Syndrome, NewbornAdultAxonemal DyneinsChildChild, PreschoolFemaleGenotypeHumansInfantInfant, NewbornMaleProspective StudiesRetrospective StudiesAxonemal DyneinsDNAH11 protein, humangenotype/phenotype correlationneonatal respiratory distressprimary ciliary dyskinesia

Identifiers

PMID40344341
PMCPMC12063519

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Registered trials

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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.