Publications by authors named "C A Jimenez-Rivera"
Article Synopsis
- - Hepatorenal tyrosinemia type 1 (HT-1) is a rare genetic disorder caused by a deficiency in the enzyme fumaryl acetoacetate hydrolase, leading to toxic metabolite buildup that can harm the liver, kidneys, and nervous system.
- - The introduction of the drug NTBC (nitisinone) has greatly enhanced HT-1 management when treatment begins early, alongside the importance of newborn screening for timely diagnosis.
- - Patients require regular monitoring of liver and kidney function, and those who do not respond to treatment may need a liver transplant; they are also at risk for long-term neurocognitive issues, necessitating ongoing assessments and therapies.
Metabolic-(non-alcoholic) associated fatty liver disease (MAFLD/NAFLD) has increasingly become a worldwide epidemic. It has been suggested that renaming NAFLD to MAFLD is critical in identifying patients with advanced fibrosis and poor cardiovascular outcomes. There are concerns that the progression to non-alcoholic steatohepatitis (NASH) may become a constant drive in the future healthcare of children and adolescents.
View Article and Find Full Text PDFBackground And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.
View Article and Find Full Text PDFArticle Synopsis
- - A patient with infantile-onset Crohn's disease showed some initial improvement with corticosteroids, but their condition worsened when the medication was tapered off, prompting the switch to a monoclonal antibody treatment.
- - Infliximab, the first monoclonal antibody used, was metabolized quickly, leading to the development of antibodies before the third dose was given; this caused a need for a different medication.
- - Adalimumab was started and showed a good clinical response, but it also cleared quickly, necessitating higher doses to maintain effectiveness; monitoring drug levels can help prevent loss of response in young children.
Unlabelled: Fontan-Associated Liver Disease (FALD) is a common extracardiac complication seen in patients following the Fontan procedure. There are no consensus guidelines on screening and management of children with FALD.
Objective: The current study aims to determine academic pediatric hepatologists' practices and identify variability in management provided to children with FALD in Canada.