Evidence map›Paper›PMID 27974115›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2016

[Maple syrup urine disease and gene mutations in twin neonates].

Tao Li, Yu Wang, Cui Li, Wei-Wei Xu, Feng-Hai Niu, Di Zhang

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

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2016. 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
0.2field-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

1 citing paper in PubMed, 2 citations in OpenAlex.

  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

6 authors at 1 institution in 1 country.

Tao LiDepartment of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, China. jyfylitao@163.com.
Yu Wang
Cui Li
Wei-Wei Xu
Feng-Hai Niu
Di Zhang
Affiliated Hospital of Jining Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD.

methodsThe clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed.

resultsTwo mutations were detected in the BCKDHB gene, missense mutation c.304G>A (p.Gly102Arg) and nonsense mutation c.331C>T (p.Arg111*), and both of them were heterozygotes. The mutation c.304G>A (p.Gly102Arg) had not been reported in the world. Their father carried the missense mutation c.304G>A (p.Gly102Arg), and their mother carried the nonsense mutation c.331C>T (p.Arg111*).

conclusionsThe c.331C>T (p.Arg111*) heterozygous mutation in BCKDHB gene is the pathogenic mutation in these twin neonates and provides a genetic and molecular basis for the clinical features of children with MSUD.

Indexed as

Diseases in TwinsMutation3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)FemaleHumansInfant, NewbornMaleMaple Syrup Urine Disease3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)

Identifiers

PMID27974115
PMCPMC7403074
OpenAlexW2564885924

What OpenQuestion holds

Textmetadata
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.