Evidence map›Paper›PMID 39076170›Full record

ArticleFrontiers in genetics2024

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Dongfan Xiao, Congcong Shi, Yinchun Zhang, Sitao Li, Yuhao Ye, Guilong Yuan, Taohan Miu, Haiyan Ma, Shiguang Diao, Chaoyun Su and 11 more

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In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06183138 (Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases), which is not on this map. Not yet cited in PubMed.

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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.

NCT06183138 unknown statusnot on this map

Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases

TypeobservationalSponsorSixth Affiliated Hospital, Sun Yat-sen UniversityRan2022 to 2025Enrolled40,000ConditionsHereditary DiseasesArmsGenomic sequencing
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

21 authors.

Dongfan Xiao *Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.
Congcong Shi *Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.
Yinchun Zhang *Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.
Sitao Li *Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.
Yuhao Ye *Department of Bioengineering, College of Food Science, South China Agricultural University, Guangzhou, China.
Guilong YuanNeonates Department, Nanhai Maternity and Child Healthcare Hospital of Foshan, Foshan, China.
Taohan MiuNeonatology Departmen, Heyuan Women and Children's Hospital and Health Institute, Heyuan, China.
Haiyan MaDepartment of Neonatology, Zhuhai Women and Children's Hospital, Zhuhai, China.
Shiguang DiaoDepartment of Neonatology, Yuebei People's Hospital, Shaoguan, China.
Chaoyun SuDepartment of Neonatology, Maoming Huazhou People's Hospital, Huazhou, China.
Zhitao LiGuangzhou Baiyun District Maternal and Child Health Hospital, Guangzhou, China.
Haiyan LiDepartment of Pediatrics, Huidong County Maternal and Child Health Hospital, Huidong, China.
Guiying ZhuangDepartment of Neonatology, The Maternal and Child Healthcare Hospital of Huadu, Guangzhou, China.
Yuanli WangPrecision Medicine Laboratory, The First People's Hospital of Qinzhou, Qinzhou, China.
Feiyan LuHuizhou Huiyang District Maternal and Child Health Hospital, Huizhou, China.
Xia GuDepartment of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.
Wei ZhouDepartment of Neonatology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Xin XiaoDepartment of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.
Weiben HuangDepartment of Neonatology, The Fifth Affiliated Hospital of Southern Medical University, Guangzhou, China.
Tao WeiDepartment of Bioengineering, College of Food Science, South China Agricultural University, Guangzhou, China.
Hu HaoDepartment of Pediatrics, The Sixth Affiliated Hospital, Sun Yat Sen University, Guangzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To accurately verify the pathogenicity of variants of uncertain significance (VUS) in Methods: This multicenter retrospective study included 35 participating units (ClinicalTrials.gov ID: NCT06183138). A total of 3,071 newborns (within 7 days of birth) were sorted into carrying pathogenic/likely pathogenic (P/LP) variants and carrying VUS, non-variant groups. Differences in metabolites among the groups were calculated using statistical analyses. Changes in conservatism, free energy, and interaction force of Results: The percentage of those carrying VUS cases was 68.15% (659/967). In the Conclusion: Common variants of methylmalonic acidemia in the study population were categorized as VUS. In the neonatal period, the metabolic biomarkers of those carrying the P/LP variant group of the

Indexed as

mass spectrometrymethylmalonic acidemianeonatal periodsilico analysisvariants of uncertain significant

Identifiers

PMID39076170
PMCPMC11284102

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