Evidence map›Paper›PMID 37293289›Full record

ArticleFrontiers in cardiovascular medicine2023

The implication of chromosomal abnormalities in the surgical outcomes of Chinese pediatric patients with congenital heart disease.

Xiafeng Yu, Yu Tao, Xu Liu, Feng Yu, Chuan Jiang, Yingying Xiao, Haibo Zhang, Yongrui He, Lincai Ye, Ying Wang and 4 more

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

Article in Frontiers in cardiovascular medicine, 2023. 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
0.6field-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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024
    Review
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

14 authors at 2 institutions in 1 country.

Xiafeng Yu *Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yu Tao *Department of Genetics, Genesky Biotechnologies Inc., Shanghai, China.
Xu LiuDepartment of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Feng YuDepartment of Genetics, Genesky Biotechnologies Inc., Shanghai, China.
Chuan JiangDepartment of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yingying XiaoDepartment of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Haibo ZhangDepartment of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yongrui HeInstitute of Pediatric Congenital Heart Disease, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Lincai YeInstitute of Pediatric Congenital Heart Disease, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Ying WangDepartment of Genetics, Genesky Biotechnologies Inc., Shanghai, China.
Chunxia ZhouDepartment of Cardiothoracic Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Jian WangDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Zhengwen JiangDepartment of Genetics, Genesky Biotechnologies Inc., Shanghai, China.
Haifa HongInstitute of Pediatric Congenital Heart Disease, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Shanghai Children's Medical Center · CNState Key Laboratory of Oncogene and Related Genes · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Copy number variations (CNVs) have been shown to be overrepresented in children with congenital heart disease (CHD). Genetic evaluation of CHD is currently underperformed in China. We sought to determine the occurrence of CNVs in CNV regions with disease-causing potential among a large cohort of Chinese pediatric CHD patients and investigate whether these CNVs could be the important critical modifiers of surgical intervention. Methods: CNVs screenings were performed in 1,762 Chinese children who underwent at least one cardiac surgery. CNV status at over 200 CNV locus with disease-causing potential was analyzed with a high-throughput ligation-dependent probe amplification (HLPA) assay. Results: We found 378 out of 1,762 samples (21.45%) to have at least one CNV and 2.38% of them were carrying multiple CNVs. The detection rates of ppCNVs (pathogenic and likely pathogenic CNVs) were 9.19% (162/1,762), significantly higher than that of the healthy Han Chinese individuals from The Database of Genomic Variants archive (9.19% vs. 3.63%; Conclusions: CNV burden is an important contributor to Chinese children with CHD. Our study demonstrated the robustness and diagnostic efficiency of HLPA method in the genetic screening of CNVs in CHD patients.

Indexed as

congenital heart diseasecopy number variationligation-dependent probe amplificationpediatricsurgery

Identifiers

PMID37293289
PMCPMC10244782
OpenAlexW4378072273

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.