Evidence map›Paper›PMID 39822994›Full record

ArticleTranslational pediatrics2024

Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.

Lianqin Mo, Shuhong Xu, Jun Jiang, Antônio da Silva Menezes Júnior, Dong Huang

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

Article in Translational pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

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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

5 authors.

Lianqin MoDepartment of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.
Shuhong XuDepartment of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.
Jun JiangDepartment of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.
Antônio da Silva Menezes JúniorDepartment of Medicine, Federal University of Goiás, Goiânia, GO, Brazil.
Dong HuangDepartment of Pediatric Intensive Care Unit, National Regional Medical Center, Guizhou Branch of Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Guizhou Provincial People's Hospital, Guiyang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy. The heart is one of the most metabolically active organs in the human body. Metabolic disorders may lead to insufficient myocardial energy production, and unwanted metabolites may be produced, which may cause spontaneous chemical damage in the body. Specific metabolic repair enzymes are required to remove accumulated metabolites. The metabolite repair enzyme NAD(P)HX dehydratase ( Case Description: This paper reported a patient with a novel Conclusions: This is one of the few cases of metabolic cardiomyopathy caused by a compound heterozygous NAXD mutation in China.

Indexed as

case reportheterozygousmutationNAD(P)HX dehydratase (NAXD)

Identifiers

PMID39822994
PMCPMC11732623

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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.