Evidence map›Paper›PMID 34433328›Full record

ArticleThe Journal of international medical research2021

Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation.

Lin Qiao, Yuting Yang, Dongmei Yue

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

Article in The Journal of international medical research, 2021. 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
0.4field-weighted citation impact, top 41% 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. 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

3 authors at 1 institution in 1 country.

Lin QiaoDepartment of Pediatrics, 85024Shengjing Hospital of China Medical University, Shengjing Hospital of China Medical University, Shenyang, Liaoning, P.R. China.ORCID https://orcid.org/0000-0002-6040-2867
Yuting YangDepartment of Pediatrics, 85024Shengjing Hospital of China Medical University, Shengjing Hospital of China Medical University, Shenyang, Liaoning, P.R. China.
Dongmei YueDepartment of Pediatrics, 85024Shengjing Hospital of China Medical University, Shengjing Hospital of China Medical University, Shenyang, Liaoning, P.R. China.
China Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC.

methodsA newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of the

resultsThe results of MLPA were negative, but NGS showed a heterozygous mutation in the

conclusionsIn this case, a case of TSC caused by a heterozygous mutation in the

Indexed as

Tuberous SclerosisTuberous Sclerosis Complex 1 ProteinDNA Mutational AnalysisEarly DiagnosisHumansInfant, NewbornMutationTuberous Sclerosis Complex 2 ProteinTumor Suppressor ProteinsTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinTumor Suppressor ProteinsGeneintensive care unitneonatenext-generation sequencingTSC1tuberous sclerosis

Identifiers

PMID34433328
PMCPMC8404652
OpenAlexW3195325011

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.