Evidence map›Paper›PMID 34382350›Full record

ArticleJournal of diabetes investigation2022

A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.

Taka-Aki Sakaue, Yoshinari Obata, Yuya Fujishima, Junji Kozawa, Michio Otsuki, Toshiyuki Yamamoto, Norikazu Maeda, Hitoshi Nishizawa, Iichiro Shimomura

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

Article in Journal of diabetes investigation, 2022. 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
0.5field-weighted citation impact, top 29% 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, 4 citations in OpenAlex.

  1. Trans-Ancestral Genetic Risk Factors for Treatment-Related Type 2 Diabetes Mellitus in Survivors of Childhood Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024
    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

9 authors at 2 institutions in 1 country.

Taka-Aki SakaueDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
Yoshinari ObataDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
Yuya FujishimaDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
Junji KozawaDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.ORCID https://orcid.org/0000-0001-9665-8947
Michio OtsukiDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.ORCID https://orcid.org/0000-0001-5947-8621
Toshiyuki YamamotoInstitute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Norikazu MaedaDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
Hitoshi NishizawaDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.ORCID https://orcid.org/0000-0002-7845-9693
Iichiro ShimomuraDepartment of Metabolic Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
The University of Osaka · JPTokyo Women's Medical University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

2p25.3 deletion syndrome is a rare genetic disorder that accompanies various phenotypic features, including early-onset obesity and intellectual disability. Here, we report the first Japanese case of this deletion associated with severe obesity and diabetes mellitus. Microarray-based comparative genomic hybridization analysis identified a 3.1-Mb deletion of distal chromosome band 2p25.3, which was suspected as de novo. The patient also presented bilateral cataracts and adolescent-onset muscular weakness of the upper limbs, both of which were uncommon in previously reported cases. It is possible that these symptoms are also important clinical features suggestive of this syndrome.

Indexed as

Diabetes MellitusIntellectual DisabilityAdolescentComparative Genomic HybridizationHumansJapanObesityPhenotype2p25.3 deletionDiabetes mellitusObesity

Identifiers

PMID34382350
PMCPMC8847130
OpenAlexW3189215918

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.