Publications by authors named "M L Pinon"
Menetrier's disease (MD) is a protein-losing gastropathy characterized by acute generalized edema due to hypoalbuminemia. MD is rare in childhood, and it is commonly associated with cytomegalovirus infection. We reported two children, who presented with a history of generalized edema after some days of abdominal pain and diarrhea.
View Article and Find Full Text PDFBackground & Aims: Glecaprevir/Pibrentasvir (GLE/PIB) has been approved by the European Medicine Agency (EMA) and by the US Food and Drug Administration (US-FDA) for the treatment of children and adolescents from 3 years of age with chronic hepatitis C virus (CHC) infection. The aim of this study was to confirm the real-world effectiveness and safety of GLE/PIB in children and adolescents (3 to < 18 years old) with CHC.
Methods: This prospective, multicentre study involved 11 Italian centres.
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.
Introduction And Objectives: Transcatheter mitral valve replacement (TMVR) is an emerging treatment alternative for mitral valve (MV) disease in patients who were ineligible for surgical intervention or edge-to-edge repair. This study aimed to assess the short- and mid-term outcomes of this procedure.
Methods: We conducted a prospective registry to include the initial experience with symptomatic, consecutive patients who underwent TMVR using the transapical Tendyne system at 7 centers in the Iberian Peninsula.
Purpose Of Review: To highlight recent advances in pediatric cholestatic liver disease, including promising novel prognostic markers and new therapies.
Findings: Additional genetic variants associated with the progressive familial intrahepatic cholestasis (PFIC) phenotype and new genetic cholangiopathies, with an emerging role of ciliopathy genes, are increasingly being identified. Genotype severity predicts outcomes in bile salt export pump (BSEP) deficiency, and post-biliary diversion serum bile acid levels significantly affect native liver survival in BSEP and progressive familial intrahepatic cholestasis type 1 (FIC1 deficiency) patients.