Evidence map›Paper›PMID 34268379›Full record

ArticleAnnals of translational medicine2021

Genetic identification of pathogenic variations of the

Tiantian Xiao, Bingbing Wu, Yun Cao, Renchao Liu, Guoqiang Cheng, Laishuan Wang, Deyi Zhuang, Zhengyan Zhao, Huijun Wang, Wenhao Zhou

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

Article in Annals of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Incidental finding of aFrontiers in pediatrics · 2025
    Article
  2. Article
  3. Review
  4. Review
  5. 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

10 authors at 4 institutions in 1 country.

Tiantian XiaoDepartment of Neonates, Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Bingbing WuCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yun CaoDepartment of Neonates, Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Renchao LiuCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Guoqiang ChengDepartment of Neonates, Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Laishuan WangDepartment of Pediatrics, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Deyi ZhuangDepartment of Pediatrics, Xiamen Children's Hospital, Xiamen, China.
Zhengyan ZhaoDepartment of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Huijun WangCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wenhao ZhouDepartment of Neonates, Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Children's Hospital of Fudan University · CNChengdu Women's and Children's Central Hospital · CNChildren’s Hospital of Fudan University Xiamen Branch · CNChildren's Hospital of Zhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAn elevated level of creatine kinase (CK) is usually the primary screening marker for Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD). This study investigated the clinical application of next-generation sequencing (NGS) in newborns with a possible diagnosis of DMD/BMD in the neonatal intensive care unit (NICU).

methodsNGS data from the NICU between June 1, 2016, and June 30, 2020, were reanalyzed by an in-house pipeline. Other methods confirmed the genetic findings, and clinical follow-up was performed until August 1, 2020.

resultsOf the 10,481 newborns, 19 (0.18%, 19/10,481) cases with pathogenic variations of the

conclusionsOur study showed that DMD/BMD could be diagnosed earlier in the neonatal stage before the typical clinical symptoms appear. Early diagnosis may provide an opportunity for guiding the care and treatment of patients. However, ethical issues need to be kept in mind in the process of genetic counseling.

Indexed as

Becker muscular dystrophy (BMD)Duchenne muscular dystrophy (DMD)next-generation sequencing (NGS)

Identifiers

PMID34268379
PMCPMC8246177
OpenAlexW3153393270

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.