A5069377290- Liver Disease and Transplantation
- Metabolism and Genetic Disorders
- Organ Transplantation Techniques and Outcomes
- Pediatric Hepatobiliary Diseases and Treatments
- Liver Disease Diagnosis and Treatment
- Neonatal Health and Biochemistry
- Clinical Nutrition and Gastroenterology
- Drug Transport and Resistance Mechanisms
- Liver Diseases and Immunity
- Amino Acid Enzymes and Metabolism
- Congenital Anomalies and Fetal Surgery
- Diet and metabolism studies
- Gallbladder and Bile Duct Disorders
- Renal Transplantation Outcomes and Treatments
- Glycogen Storage Diseases and Myoclonus
- Pharmacological Effects and Toxicity Studies
- Mitochondrial Function and Pathology
- Pancreatic function and diabetes
- Biochemical and Molecular Research
- Folate and B Vitamins Research
- Childhood Cancer Survivors' Quality of Life
- Lysosomal Storage Disorders Research
- Diabetes and associated disorders
- Hemoglobinopathies and Related Disorders
- Genetic and Kidney Cyst Diseases
Children's Hospital of Pittsburgh
2009-2024
University of Pittsburgh
2016-2024
Birmingham Women’s and Children’s NHS Foundation Trust
2018-2024
University of Pittsburgh Medical Center
2017-2022
Research Network (United States)
2021-2022
Golisano Children's Hospital
2021
University of Rochester
2021
University of Zurich
2021
Pennsylvania State System of Higher Education
2021
Birmingham Children's Hospital
2010-2019
Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic in children and adolescents United States, probably also rest industrialized world.As prevalence NAFLD childhood increases with worldwide obesity epidemic, there an urgent need for diagnostic standards that can be commonly used by pediatricians hepatologists. To this end, we performed a PubMed search adult pediatric literature on diagnosis through May 2011 using Topics and/or relevant Authors as words. According to...
Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited paediatric liver diseases resulting from mutations in genes that impact bile secretion. We aimed to evaluate the effects odevixibat, an ileal acid transporter inhibitor, versus placebo children with PFIC.Patients eligible for this 24-week, randomised, double-blind, completed, phase 3 study were outpatients diagnosed PFIC1 or PFIC2 who had pruritus and elevated serum acids at screening. Patients randomly assigned...
The long-term histological outcome after pediatric liver transplantation (OLT) is not yet fully understood. De novo autoimmune hepatitis, consisting of chronic hepatitis associated with autoantibody formation and allograft dysfunction, increasingly recognized as an important complication transplantation, particularly in the population. In this study, 158 asymptomatic children 5-year graft survival underwent protocol biopsies (113, 135, 64 at 1, 5, 10 years OLT, respectively). Histological...
ABSTRACT Objective: To study the etiology, outcome and prognostic indicators in children with fulminant hepatic failure United Kingdom. Design: Retrospective review of all patients <17 years from 1991 to 2000. Fulminant was defined as presence coagulopathy (prothrombin time >24 seconds or International Normalized Ratio >2.0) without encephalopathy within 8 weeks onset symptoms. Setting: Liver Unit, Birmingham Children's Hospital, Results: Ninety‐seven (48 male, 49 female; median...
Abstract Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and limited dextrin. Patients with GSDIIIa show involvement liver cardiac/skeletal muscle, whereas GSDIIIb patients display only symptoms signs. The International Study on Storage Disease (ISGSDIII) descriptive retrospective, international, multi‐centre cohort study diagnosis, genotype, management, clinical course outcome 175 from...
Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim our study was to collect cross-sectional data. Via questionnaires we collected retrospective data 168 with Tyr 1 from 21 centres (Europe, Turkey Israel) about diagnosis, monitoring outcome. In subsequent consensus workshop, discussed clinical implications. Early...
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute (RALF), about 50% of cases, the underlying molecular remains unresolved. Exome sequencing five unrelated individuals with fever-dependent RALF revealed biallelic mutations NBAS. Subsequent Sanger NBAS 15 additional or ALF identified compound heterozygous an six from families. Immunoblot analysis mutant fibroblasts showed reduced protein levels its proposed...
Morbid obesity is strongly associated with nonalcoholic fatty liver disease (NAFLD), which one of the most common causes chronic worldwide. The present best treatment for NAFLD and steatohepatitis (NASH) weight reduction through lifestyle modification. Because frustrating inefficiency such a therapeutic approach, bariatric surgery increasingly performed in adolescents as an alternative option reduction. Standards care consensus indications are, however, scarce. We explore limitations...
Non-alcoholic steatohepatitis (NASH) is an increasing cause of liver disease necessitating transplantation.In patients with advanced NASH, there are often coexistent clinical issues that impact on the outcome transplantation.There no guidelines for assessment and management NASH undergoing transplantation.A group was therefore invited by Council British Transplant Society (BTS) to prepare before after transplantation.
Propionic acidemia (PA) and methylmalonic (MMA) comprise the most common organic acidemias account for profound morbidity in affected individuals. Although liver transplantation (LT) has emerged as a bulk enzyme-replacement strategy to stabilize metabolically fragile patients, it is not metabolic cure because patients remain at risk disease-related complications. We retrospectively studied LT and/or liver-kidney transplant 9 with PA or MMA additional focus on optimization of control...