Evidence map›Paper›PMID 39720245›Full record

ArticleFrontiers in endocrinology2024

Case report: Duplication of the

Takashi Shoji, Ichiro Yamauchi, Hidenori Kawasaki, Kogoro Iwanaga, Takuro Hakata, Daisuke Tanaka, Junji Fujikura, Toshihiko Masui, Hisato Suzuki, Mamiko Yamada and 10 more

Abstract readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 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

20 authors.

Takashi ShojiDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Ichiro YamauchiDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Hidenori KawasakiDepartment of Genomic Medicine, Kyoto University School of Public Health, Kyoto, Japan.
Kogoro IwanagaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Takuro HakataDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Daisuke TanakaDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Junji FujikuraDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Toshihiko MasuiDepartment of Surgery, Kurashiki Central Hospital, Kurashiki, Japan.
Hisato SuzukiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Mamiko YamadaCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Yosuke KasaiDepartment of Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Etsuro HatanoDepartment of Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Akira InabaClinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan.
Takahito WadaClinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan.
Shinji KosugiClinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan.
Yohei UedaDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Toshihito FujiiDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Daisuke TauraDepartment of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Nobuya InagakiMedical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia. We diagnosed him with hyperinsulinemic hypoglycemia (HH) and treated him with laparoscopic distal pancreatectomy. Histological examination led to a diagnosis of nesidioblastosis. The juvenile onset of his nesidioblastosis and its slowly progressive course suggested a genetic etiology. Whole-exome sequencing (WES) identified the heterozygous

Indexed as

Chromosomes, Human, Pair 7NesidioblastosisPhenotypeSilver-Russell SyndromeAdultGene DuplicationGerminal Center KinasesHumansMaleGerminal Center KinasesMAP4K2 protein, humanchromosome 7glucokinasehyperinsulinemic hypoglycemianesidioblastosisSilver-Russell Syndrome

Identifiers

PMID39720245
PMCPMC11666348

What OpenQuestion holds

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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.