Evidence map›Paper›PMID 39759977›Full record

ArticleCase reports in genetics2024

Jose G Acuña-Ochoa, Norma A Balderrábano-Saucedo, Ana C Cepeda-Nieto, Maria Y Alvarado-Cervantes, Vianca L Ibarra-Garcia, Daniel Barr, Matthew J Gage, Ryan Pfeiffer, Dan Hu, Hector Barajas-Martinez

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in genetics, 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

10 authors.

Jose G Acuña-OchoaCardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.ORCID https://orcid.org/0009-0000-0230-7346
Norma A Balderrábano-SaucedoCardiomyopathies and Arrhythmias Research Laboratory/Department, Federico Gómez Children's Hospital of Mexico, Mexico 06720, Mexico.ORCID https://orcid.org/0000-0003-3026-1992
Ana C Cepeda-NietoMolecular Genomics Laboratory/Department, Faculty of Medicine, Universidad Autónoma de Coahuila, Saltillo, Coahuila 25000, Mexico.ORCID https://orcid.org/0000-0003-2563-6171
Maria Y Alvarado-CervantesCardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.ORCID https://orcid.org/0000-0003-0169-6129
Vianca L Ibarra-GarciaTherapeutic Innovation Program/Division, Center for Applied Medical Research, University of Navarra, Pamplona 31008, Spain.ORCID https://orcid.org/0009-0000-5423-7351
Daniel BarrChemistry Department, University of Mary, Bismarck, North Dakota 58504, USA.ORCID https://orcid.org/0000-0003-4660-5649
Matthew J GageChemistry Department, University of Massachusetts at Lowell, Lowell, Massachusetts, 01854, USA.
Ryan PfeifferMolecular Genetics Department, Masonic Medical Research Institute, Utica, New York 13501, USA.ORCID https://orcid.org/0000-0002-4139-4881
Dan HuMolecular Genetics Department, Masonic Medical Research Institute, Utica, New York 13501, USA.ORCID https://orcid.org/0000-0002-0994-8434
Hector Barajas-MartinezCardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.ORCID https://orcid.org/0000-0002-2704-3807

Funding

ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIASR01HL047678 · NHLBI · MASONIC MEDICAL RESEARCH LABORATORY, INC · PI ANTZELEVITCH, CHARLES · 1993 to 2014
$5.7M
Development of a whole heart model of the J wave syndromes and novel approaches to pharmacologic management of associated life-threatening arrhythmiasR01HL152201 · NHLBI · LANKENAU INSTITUTE FOR MEDICAL RESEARCH · PI ANTZELEVITCH, CHARLES, DI DIEGO, JOSE M. · 2020 to 2023
$2.5M
NHLBI NIH HHS R01 HL047678NHLBI NIH HHS R01 HL152201
6 · The paper itself

Abstract

Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD. A total of 132 genes (48 structure- and 84 electrical-related genes) were examined by next generation sequencing to identify potential causative mutations in comparison to control population.

Indexed as

ACTC1dilated cardiomyopathypathogenic variationssudden cardiac deathTTN

Identifiers

PMID39759977
PMCPMC11699985

What OpenQuestion holds

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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.