Evidence map›Paper›PMID 38321508›Full record

ArticleOrphanet journal of rare diseases2024

Quantification of Proteus syndrome-associated lung disease.

Christopher A Ours, Anna Buser, Mia B Hodges, Marcus Y Chen, Julie C Sapp, Bernadette R Gochuico, Leslie G Biesecker

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

7 authors.

Christopher A OursCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. chris.ours@nih.gov.ORCID 0000-0002-7831-1621
Anna BuserCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Mia B HodgesCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Marcus Y ChenSection of Inflammation and Cardiovascular Diseases, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Julie C SappCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Bernadette R GochuicoMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

Funding

Cardiovascular CT Clinical ResearchZIAHL006220 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI CHEN, MARCUS · 2017 to 2025
$22.5M
Rare & Mosaic Disorders - Clinical ResearchZIAHG200388 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$17.3M
Cardiovascular Clinical Section StudiesZICHL006199 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI SACK, MICHAEL · 2017 to 2025
$8.8M
NHGRI NIH HHS HG200388-09
6 · The paper itself

Abstract

backgroundProteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical intervention. This retrospective study seeks to quantify the radiographic features of Proteus syndrome-associated lung disease using computed tomography (CT) of the chest. The first method derives a Cystic Lung Score (CLS) by using a computer-aided diagnostic tool to quantify the fraction of cystic involvement of the lung. The second method yields a Clinician Visual Score (CVS), an observer reported scale of severity based on multiple radiographic features. The aim of this study was to determine if these measurements are associated with clinical symptoms, pulmonary function test (PFT) measurements, and if they may be used to assess progression of pulmonary disease.

resultsOne hundred and thirteen imaging studies from 44 individuals with Proteus syndrome were included. Dyspnea and oxygen use were each associated with higher CLS (p = 0.001 and < 0.001, respectively) and higher CVS (p < 0.001 and < 0.001). Decreases in percent predicted FVC, FEV

conclusionsProteus syndrome-associated lung disease is progressive. The rate of cystic progression is increased in children. Increased scores in CLS and CVS were associated with clinical symptoms and decreased pulmonary function. Both methods were able to detect change over time and were associated with clinically meaningful outcomes which may enable their use in interventional studies.

Indexed as

Lung DiseasesProteus SyndromeAdultChildHumansLungRetrospective StudiesTomography, X-Ray ComputedLung diseaseOutcome assessmentProteus syndrome

Identifiers

PMID38321508
PMCPMC10848554

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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.