Evidence map›Paper›PMID 36207832›Full record

ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2022

Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.

Yanling Gong, Yinhong Zhang, Fan Liu, Baosheng Zhu, Xiaoyan Zhou, Ying Chan, Suyun Li, Li Li

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2022. 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
0.1field-weighted citation impact, top 50% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

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

8 authors at 3 institutions in 1 country.

Yanling Gong1. School of Medicine, Kunming University of Science and Technology, Kunming 650500, China.
Yinhong Zhang3. Department of Medical Genetics, the First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, Kunming 650032, China.
Fan Liu4. Children's Medical Center, Chuxiong Yi Autonomous Prefecture People's Hospital, Chuxiong 675000, Yunnan Province, China.
Baosheng Zhu3. Department of Medical Genetics, the First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, Kunming 650032, China.
Xiaoyan Zhou3. Department of Medical Genetics, the First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, Kunming 650032, China.
Ying Chan3. Department of Medical Genetics, the First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, Kunming 650032, China.
Suyun Li3. Department of Medical Genetics, the First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, Kunming 650032, China.
Li Li1. School of Medicine, Kunming University of Science and Technology, Kunming 650500, China.
First People's Hospital of Yunnan Province · CNKunming University of Science and Technology · CNThe Fourth People's Hospital of Ningxia Hui Autonomous Region · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo investigate molecular and clinical characteristics of children with permanent congenital hypothyroidism (CH) in Yunnan, China.

methodsThe clinical data of 40 children with CH diagnosed and treated in the First People's Hospital of Yunnan Province during January 2016 and January 2019 were retrospectively analyzed. All children were followed up to 3 years old, and Gesell intelligent score was evaluated at age of 1, 2 and 3 years, respectively. Developmental status and prognosis were evaluated. Next-generation sequencing (NGS) was used to screen all exons and exon-intron boundary sequences of the 27 known CH associated genes, and the relationship between genotypes and clinical phenotypes was analyzed.

resultsAmong the 40 children, the thyroid related pathogenic gene mutations were detected in 23 cases with a rate of 57.5%, and a total of 32 mutations of 8 genes were detected. Mutations in

conclusionThe detection rate of

Indexed as

Congenital HypothyroidismChinaDual OxidasesHumansMutationRetrospective StudiesDual OxidasesCongenital hypothyroidismGene mutationHigh-throughput sequencingNeonatal screeningThyroid hormone

Identifiers

PMID36207832
PMCPMC9511479
OpenAlexW4286292803

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.