Evidence map›Paper›PMID 33132306›Full record

ArticleInternal medicine (Tokyo, Japan)2020

Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.

Kentaro Horiuchi, Tomomi Kogiso, Takaomi Sagawa, Taito Ito, Makiko Taniai, Kenichiro Miura, Motoshi Hattori, Naoya Morisada, Etsuko Hashimoto, Katsutoshi Tokushige

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

Article in Internal medicine (Tokyo, Japan), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 28% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

10 authors at 3 institutions in 1 country.

Kentaro HoriuchiInstitute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan.
Tomomi KogisoInstitute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan.
Takaomi SagawaInstitute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan.
Taito ItoInstitute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan.
Makiko TaniaiInstitute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan.
Kenichiro MiuraDepartment of Pediatric Nephrology, Tokyo Women's Medical University, Japan.
Motoshi HattoriDepartment of Pediatric Nephrology, Tokyo Women's Medical University, Japan.
Naoya MorisadaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Japan.
Etsuko HashimotoSeibu Railway Company Health Support Center, Japan.
Katsutoshi TokushigeInstitute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan.
Tokyo Women's Medical University · JPEast Japan Railway (Japan) · JPKobe University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed with Bardet-Biedl syndrome (BBS). Skipping of exons 14 and 17 in the sodium channel and clathrin linker 1 (SCLT1) gene was observed. At 22 years of age, the liver enzyme levels were further elevated and a diagnosis of microvesicular steatohepatitis was made. Insulin resistance, a reduction of muscle mass, an impairment of the fatty acid metabolism, and hyperleptinemia in this syndrome may cause steatohepatitis.

Indexed as

MutationAdultBardet-Biedl SyndromeFatty LiverHumansJapanMaleSodium ChannelsYoung AdultSCLT1 protein, humanSodium ChannelsBardet-Biedl syndromehepatic fibrosishyperleptinemiamicrovesicular steatohepatitissodium channel and clathrin linker 1 (SCLT1)

Identifiers

PMID33132306
PMCPMC7691027
OpenAlexW3096625059

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.