Evidence map›Paper›PMID 42015702›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2026

[Diagnostic accuracy of tandem mass spectrometry combined with artificial intelligence for neonatal methylmalonic acidemia and associated factors].

Peng-Yue Yan, Yang Yu, Shan Jiang, Hong-Wei Li, Hong-Li Wu

Abstract readEnglish Abstract
In one paragraph

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2026. 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

5 authors.

Peng-Yue YanGenetic and Eugenics Laboratory, Qinhuangdao Maternal and Child Health Hospital, Qinhuangdao, Hebei 066000, China.
Yang YuGenetic and Eugenics Laboratory, Qinhuangdao Maternal and Child Health Hospital, Qinhuangdao, Hebei 066000, China.
Shan JiangGenetic and Eugenics Laboratory, Qinhuangdao Maternal and Child Health Hospital, Qinhuangdao, Hebei 066000, China.
Hong-Wei Li
Hong-Li WuGenetic and Eugenics Laboratory, Qinhuangdao Maternal and Child Health Hospital, Qinhuangdao, Hebei 066000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo evaluate the diagnostic accuracy of tandem mass spectrometry (MS/MS) combined with artificial intelligence (AI) for neonatal methylmalonic acidemia (MMA), and to identify factors associated with diagnostic accuracy.

methodsA total of 246 neonates with positive initial MMA screening at Qinhuangdao Maternal and Child Health Hospital from January 2019 to December 2024 were recalled for confirmatory testing. Using genetic diagnosis as the reference standard, all cases underwent MS/MS diagnosis, AI diagnosis, and combined diagnosis (MS/MS plus AI). Sensitivity, specificity, accuracy, and other diagnostic performance indices were calculated; agreement with genetic diagnosis was assessed; and multivariable logistic regression was performed to identify factors associated with diagnostic accuracy.

resultsThe combined diagnosis yielded a sensitivity of 92.3%, a specificity of 97.0%, and an accuracy of 96.7%, with high agreement with genetic diagnosis (

conclusionsMS/MS combined with AI shows high diagnostic accuracy for neonatal MMA. Lower levels of methionine, phenylalanine, ornithine, glycine, blood ammonia, and lactic acid and abnormal electrophysiological findings may affect the diagnostic accuracy of MMA.

Indexed as

Amino Acid Metabolism, Inborn ErrorsArtificial IntelligenceTandem Mass SpectrometryFemaleHumansInfant, NewbornMaleAccuracyDiagnosisMethylmalonic acidemiaNeonateTandem mass spectrometry

Identifiers

PMID42015702
PMCPMC13108945

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.