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Genomic and Transcriptomic Profile of HNF1A-Mutated Liver Adenomas Highlights Molecular Signature and Potential Therapeutic Implications.
Int J Mol Sci
September 2024
Immunogenetics and Transplant Biology Service, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, 10126 Turin, Italy.
Article Synopsis
- - Hepatocellular adenomas (HAs) are liver tumors linked to genetic mutations, with this study focusing on a 17-year-old with multiple HAs and a specific pathogenic mutation known to have a dominant negative effect.
- - The study identified additional somatic variants in some HAs and revealed significant transcriptomic changes, including alterations in various metabolic pathways, angiogenesis, and immune response.
- - Findings provide a detailed molecular profile of HAs associated with the identified mutation, paving the way for possible non-surgical treatment strategies by pinpointing new therapeutic targets.
Hepatic Adenomatosis in a Transgender Man on Gender-Affirming Testosterone Therapy.
ACG Case Rep J
September 2024
Department of Transplantation, Mayo Clinic, Jacksonville, FL.
Article Synopsis
- - The management of hepatic adenoma in transgender individuals on hormone therapy is not clearly defined, particularly in relation to sex assigned at birth versus the therapy received.
- - A case study is presented involving a transgender man who experienced hepatic adenomatosis with a molecular profile different from typical cases seen in cisgender males on testosterone.
- - Discontinuing testosterone led to the self-resolution of the adenoma, suggesting the need for personalized treatment strategies in transgender patients, challenging the current norms based on biological sex.
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections - a nationwide Danish cohort study with long-term follow-up.
Fam Cancer
November 2024
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Background: Familial adenomatous polyposis (FAP) predisposes individuals to duodenal adenomas. This study describes the histopathological features of endoscopic and surgical specimens from the duodenum, as well as genotype-phenotype associations.
Methods: All known FAP patients were included from the Danish Polyposis Register.
Fatal rupture of hepatic adenomatosis: Autopsy case and review of the literature.
J Forensic Sci
July 2023
Ibn El Jazzar Faculty of Medicine, The University of Sousse, Sousse, Tunisia.
Hepatic adenomatosis is a rare disease consisting of multiple adenomas in otherwise-normal liver parenchyma. Though the discovery of this entity goes back several years, its diagnosis is still challenging in terms of its definition and pathophysiology. Clinically, patients may be completely asymptomatic and the diagnosis is only made incidentally through imaging tests.
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