A Clinical Case of Probable Sitosterolemia.

Michishige Terasaki, Mikiko Izumi, Sho-Ichi Yamagishi

Open access · goldAbstract readCase Reports

In one paragraph

Article in International journal of molecular sciences, 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

0.6field-weighted citation impact, top 38% 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

3 authors at 2 institutions in 1 country.

Michishige TerasakiDivision of Diabetes, Metabolism and Endocrinology, Showa University Graduate School of Medicine, 1-5-8 Shinagawa, Tokyo 142-8666, Japan.ORCID 0000-0002-7405-7419

Mikiko IzumiCenter for Clinical Genetics, Showa University Hospital, 1-5-8 Shinagawa, Tokyo 142-8666, Japan.

Sho-Ichi YamagishiDivision of Diabetes, Metabolism and Endocrinology, Showa University Graduate School of Medicine, 1-5-8 Shinagawa, Tokyo 142-8666, Japan.ORCID 0000-0003-0102-0823

Showa University · JPShowa University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering agents. Although her LDL-C level remained high (220 mg/dL) with diet therapy plus 10 mg/day rosuvastatin, it was drastically decreased to 46 mg/dL with the addition of 10 mg/day ezetimibe. Finally, her LDL-C level was well-controlled at about 70 mg/dL with 10 mg/day ezetimibe alone. Furthermore, while her serum sitosterol level was elevated at 10.5 μg/mL during the first visit to our hospital, it decreased to 3.6 μg/mL with the 10 mg/day ezetimibe treatment alone. These observations suggest that she might probably suffer from sitosterolemia. Therefore, targeted gene sequencing analysis was performed using custom panels focusing on the exome regions of 21 lipid-associated genes, including

Indexed as

HypercholesterolemiaHyperlipoproteinemia Type IIIntestinal DiseasesLipid Metabolism, Inborn ErrorsPhytosterolsAdultATP Binding Cassette Transporter, Subfamily G, Member 5Cholesterol, LDLEzetimibeFemaleHumansProprotein Convertase 9Young AdultATP Binding Cassette Transporter, Subfamily G, Member 5Cholesterol, LDLEzetimibePCSK9 protein, humanPhytosterolsProprotein Convertase 9ABCG8ezetimibeMet429Valsitosterolemia

Identifiers

PMID38338819

DOI10.3390/ijms25031535

PMCPMC10855567

OpenAlexW4391255562

What OpenQuestion holds

Textmetadata

LicenceCC BY

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.