Evidence map›Paper›PMID 34984346›Full record

ArticleJACC. Case reports2021

Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement.

Dalton J Sherwood, Michael C Adams, Anthony J Mazzella, Ahad Abid, Sudhir Prasada, Joseph Muenzer, Steven M Johnson, Michael Yeung

Abstract readCase Reports
In one paragraph

Article in JACC. Case reports, 2021. 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. Article
  3. Misdiagnosis in mucopolysaccharidoses.Journal of applied genetics · 2022
    Review
  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

8 authors.

Dalton J SherwoodDepartment of Medicine, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
Michael C AdamsDivision of Genetics and Metabolism, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
Anthony J MazzellaDivision of Cardiology, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
Ahad AbidDepartment of Medicine, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
Sudhir PrasadaNash Heart Center, Nash UNC Health Center, Rocky Mount, North Carolina, USA.
Joseph MuenzerDivision of Genetics and Metabolism, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
Steven M JohnsonDepartment of Pathology and Laboratory Medicine, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.
Michael YeungDivision of Cardiology, University of North Carolina Hospitals, Chapel Hill, North Carolina, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 32-year-old developmentally delayed man presenting with dyspnea was found to have severe aortic and mitral valve stenosis. After double valve replacement, unique histologic findings prompted a genetics evaluation, ultimately leading to the diagnosis of mucopolysaccharidosis type I, a rare lysosomal storage disorder with high rates of cardiac manifestations. (

Indexed as

CNS, central nervous systemechocardiographyGAG, glycosaminoglycangeneticsinherited metabolic disordersLVOT, left ventricular outflow tractMPS, mucopolysaccharidosisTTE, transthoracic echocardiogramvalve replacement

Identifiers

PMID34984346
PMCPMC8693276

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.