Evidence map›Paper›PMID 36727025›Full record

ArticleFrontiers in cardiovascular medicine2022

Case report: Rare novel

Ling Wang, Pengtao Lu, Jie Yin, Kangkang Xu, Dandan Xiang, Zhongman Zhang, Han Zhang, Bixia Zheng, Wei Zhou, Chunli Wang and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cardiovascular medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 30% of its field
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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Functional characterization of a biallelicMolecular genetics and metabolism reports · 2026
    Article
  2. 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

11 authors at 1 institution in 1 country.

Ling WangDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Pengtao LuDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Jie YinDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Kangkang XuDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Dandan XiangDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Zhongman ZhangDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Han ZhangDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Bixia ZhengNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Wei ZhouNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Chunli WangNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Shiwei YangDepartment of Cardiology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Second Affiliated Hospital of Nanjing Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mitochondrial intermediate peptidase, encoded by the Methods: Trio-whole-exome sequencing and copy number variation sequencing were performed to identify mutated genetic loci. Sanger sequencing and quantitative real-time PCR were used to validate the candidate single nucleotide variants and copy number variants, respectively. Results: The proband was an 8-month-old boy with HCM, severe lactic acidosis, and hypotonia who died 2 months after his first admission. Two novel compound heterozygous variants, c.1081T > A (p. Tyr361Asn) and a whole deletion (Ex1-19 del), were found in the Conclusion: We are the first to report a patient with rare

Indexed as

combined oxidative phosphorylation deficiency-31hypertrophic cardiomyopathyMIPEPmitochondrial diseaseoxidative phosphorylation

Identifiers

PMID36727025
PMCPMC9884671
OpenAlexW4316664919

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.