Evidence map›Paper›PMID 38737634›Full record

ArticleFrontiers in pediatrics2024

Case Report: A novel

Yanjun Wang, Ling Hang, Weihua Shou, Cuifen Li, Fangling Dong, Xingxing Feng, Ruohong Jin, Bin Li, Shufang Xiao

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Yanjun Wang *Pediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Ling Hang *Pediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Weihua Shou *Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, China.
Cuifen LiPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Fangling DongPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Xingxing FengDepartment of Clinical Laboratory, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Ruohong JinPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Bin LiPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.
Shufang XiaoPediatric Intensive Care Unit, Kunming Children's Hospital, Children's Hospital Affiliated to Kunming Medical University, Kunming, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: There are few reports of infantile mitochondrial DNA depletion syndrome (MDDS) caused by variants in Methods: Routine physical examinations, laboratory assays, which included gas chromatography-mass spectrometry of blood and urine, and MRI scans were performed to obtain an exact diagnosis. Whole-exome sequencing was used to pinpoint the abnormal gene and bioinformatic analyses were performed on the identified variant. Results: The case presented with progressive neurologic deterioration, failure to thrive, respiratory distress and lactic acidosis. Sequencing revealed that the patient had a homozygous novel missense variant, c.155T>C (p.Ile52Thr), in exon 2 of the Conclusion: The novel variant is a likely genetic cause of MDDS. It expands our understanding of the pathogenic variant spectrum and the contribution of the

Indexed as

disease etiologydisease spectrummitochondrial DNA depletion syndromeRRM2Bwhole-exome sequencing

Identifiers

PMID38737634
PMCPMC11084280

What OpenQuestion holds

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Registered trials

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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.