Event Videos

https://pubmed.ncbi.nlm.nih.gov/34016879/ Cholestasis

J Pediatr Gastroenterol Nutr. 2021 May 13.
doi: 10.1097/MPG.0000000000003153.Online ahead of print.

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children with Monogenic Cholestasis

Heather van Doren 1, Paula M Hertel, Laura N Bull, Richard J Thompson, Nathan P Goodrich, Wen Ye, John C Magee, Robert H Squires, Lee M Bass, James E Heubi, Grace E Kim, Sarangarajan Ranganathan, Kathleen B Schwarz, Molly A Bozic, Simon P Horslen, Matthew S Clifton, Yumirle P Turmelle, Frederick J Suchy, Riccardo A Superina, Kasper S Wang, Kathleen M Loomes, Binita M Kamath, Ronald J Sokol, Benjamin L Shneider, Childhood Liver Disease Research Network (ChiLDReN)

Abstract

Published on: 
May-2021

https://pubmed.ncbi.nlm.nih.gov/34044196/ Wilsons

J Acad Consult Liaison Psychiatry. 2021 May 24;S2667-2960(21)00078-1.
doi: 10.1016/j.jaclp.2021.04.004. Online ahead of print.

Effect of Mental Health, Neurological and Liver Disease on Quality of Life in Patients with Wilson Disease

Michelle A Camarata 1, Aftab Ala 2, Ayse K Coskun 3, Yanhong Deng 4, Regino Gonzalez-Peralta 5, Kaitlin R Maciejewski 4, Amar Patel 6, Susan Rubman 7, Uyen To 3, Ricarda Tomlin 3, Michael L Schilsky 3, Paula C Zimbrean 7
Affiliations expand
PMID: 34044196

DOI: 10.1016/j.jaclp.2021.04.004

Abstract

Published on: 
May-2021

https://pubmed.ncbi.nlm.nih.gov/34046333/ NAFLD

Pediatr Gastroenterol Hepatol Nutr. 2021 May;24(3):295-305.
doi: 10.5223/pghn.2021.24.3.295.Epub 2021 May 4.

Hepcidin Levels and Pathological Characteristics in Children with Fatty Liver Disease

Norito Tsutsumi 1, Shigeo Nishimata 1, Masaru Shimura 1 2, Yasuyo Kashiwagi 1, Hisashi Kawashima 1

Abstract

Purpose: Hepcidin levels have previously been reported to be correlated with liver damage. However, the association between hepcidin levels and liver fibrosis in children with fatty liver disease remains unclear. This study therefore aimed to investigate the pathophysiology of fibrosis in children with fatty liver disease and its association with hepcidin levels.

Published on: 
May-2021

https://pubmed.ncbi.nlm.nih.gov/34022250/ Hepatitis C

J Pediatr. 2021 May 19;S0022-3476(21)00458-3.
doi: 10.1016/j.jpeds.2021.05.035.Online ahead of print.

Chronic Hepatitis Is Common and Often Untreated Among Children With Hepatitis B Infection in the United States and Canada

Simon C Ling 1, Hsing-Hua S Lin 2, Karen F Murray 3, Philip Rosenthal 4, Douglas Mogul 5, Norberto Rodriguez-Baez 6, Sarah Jane Schwarzenberg 7, Jeffrey Teckman 8, Kathleen B Schwarz 5, Hepatitis B Research Network (HBRN)

Abstract

Objective: To determine the outcomes of chronic hepatitis B virus (HBV) infection in a large, prospectively studied cohort of children in the USA and Canada.

Published on: 
May-2021

https://pubmed.ncbi.nlm.nih.gov/34046462/ PFIC

Case Reports

World J Clin Cases. 2021 May 26;9(15):3631-3636.
doi: 10.12998/wjcc.v9.i15.3631.

Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4mutation: A case report

Piotr Czubkowski 1, Richard J Thompson 2, Irena Jankowska 3, A S Knisely 4, Milton Finegold 5, Pamela Parsons 5, Joanna Cielecka-Kuszyk 6, Sandra Strautnieks 2, Joanna Pawłowska 3, Laura N Bull 7

Abstract

Background: Functioning farnesoid X receptor (FXR; encoded by NR1H4) is key to normal bile acid homeostasis. Biallelic mutations in NR1H4 are reported in a few children with intrahepatic cholestasis. We describe a boy with progressive familial intrahepatic cholestasis and homozygous mutation in NR1H4.

Published on: 
May-2021

https://pubmed.ncbi.nlm.nih.gov/34023347/ Acute liver failure

J Pediatr. 2021 May 20;S0022-3476(21)00491-1.
doi: 10.1016/j.jpeds.2021.05.041.Online ahead of print.

Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology

Robert Hegarty 1, Philippa Gibson 2, Melissa Sambrotta 2, Sandra Strautnieks 3, Pierre Foskett 3, Sian Ellard 4, Julia Baptista 4, Suzanne Lillis 5, Sanjay Bansal 6, Roshni Vara 6, Anil Dhawan 7, Tassos Grammatikopoulos 7, Richard J Thompson 7

Abstract

Objective: To use next generation sequencing (NGS) technology to identify undiagnosed, monogenic diseases in a cohort of children who suffered from acute liver failure (ALF) without an identifiable etiology.

Published on: 
May-2021

https://pubmed.ncbi.nlm.nih.gov/34058057/ Liver Transplant
Liver Transpl. 2021 May 31.

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time

Ioannis A Ziogas 1, W Kelly Wu 1, Lea K Matsuoka 1, Anita K Pai 2, Einar T Hafberg 2, Lynette A Gillis 2, Thomas M Morgan 3, Sophoclis P Alexopoulos 1

Abstract

Background: Liver transplantation (LT) for children with urea cycle disorders (UCD) is capable of correcting the enzymatic defect and preventing progressive neurologic injury. We describe the characteristics and outcomes of pediatric LT recipients with UCD.

Published on: 
May-2021

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