Evidence map›Paper›PMID 27799961›Full record

ArticleHepatitis monthly2016

Heterozygous Inactivation of the Nuclear Receptor PXR/NR1I2 in a Patient With Anabolic Steroid-Induced Intrahepatic Cholestasis.

Roman Liebe, Marcin Krawczyk, Joanna Raszeja-Wyszomirska, Beata Kruk, Rebecca Preis, Jocelyn Trottier, Olivier Barbier, Piotr Milkiewicz, Frank Lammert

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Hepatitis monthly, 2016. 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
0.3field-weighted citation impact, top 34% 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, 6 citations in OpenAlex.

  1. 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 5 institutions in 3 countries.

Roman LiebeDepartment of Medicine II, Saarland University, Homburg, Germany.
Marcin KrawczykDepartment of Medicine II, Saarland University, Homburg, Germany; Department of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.
Joanna Raszeja-WyszomirskaDepartment of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.
Beata KrukDepartment of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland.
Rebecca PreisGemeinschaftspraxis fur Humangenetik, Homburg, Germany.
Jocelyn TrottierCHU-Quebec, Research Center and the Faculty of Pharmacy, Laval University, Quebec, Canada.
Olivier BarbierCHU-Quebec, Research Center and the Faculty of Pharmacy, Laval University, Quebec, Canada.
Piotr MilkiewiczDepartment of General, Transplant and Liver Surgery, Medical University of Warsaw, Warsaw, Poland; Department of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, Poland.
Frank LammertDepartment of Medicine II, Saarland University, Homburg, Germany.
Saarland University · DEMedical University of Warsaw · PLUniversité Laval · CAPomeranian Medical University · PLPraxis für Humangenetik · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe incidence of liver damage due to steroid consumption is increasing due to the omnipresence of the idealized body image and the widespread availability of drugs via the Internet. The genetic factors underlying individual susceptibility are not presently known. CASE PRESENTATION: A male patient developed cholestatic liver injury two weeks after a two-month course of anabolic steroids. Next-generation sequencing (NGS) of 24 cholestasis-related genes revealed a heterozygous two-basepair deletion in exon 1 of the pregnane X receptor gene (PXR). Serum bile salt levels showed marked imbalances, strongly resembling the changes observed in patients with biliary obstruction.

conclusionsThis case of PXR haploinsufficiency reveals transcriptional regulatory functions activated in the liver under xenobiotic stress by steroids, which appear to require two functional copies of the nuclear receptor gene. Deranged bile salt levels outline the central role of PXR in bile acid synthesis, modification, and export.

Indexed as

Anabolic SteroidsBile Acid MetabolismDrug-Induced CholestasisLiver DiseaseNuclear Receptor PXR/NR1I2

Identifiers

PMID27799961
PMCPMC5075225
OpenAlexW2481657687

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.