Publications by authors named "A Nagral"
Ubiquitin-specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the homozygous, compound heterozygous, or heterozygous state and presented with cholestasis were included.
View Article and Find Full Text PDFArticle Synopsis
- - The text discusses the rising prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD), which has become the leading chronic liver disease globally among both children and adults, highlighting a lack of regional guidelines for its prevention and management in young populations.
- - A consensus meeting was held in Mumbai on April 20, 2024, where national and international experts collaborated to develop recommendations for the diagnostic evaluation and management of pediatric MASLD, given the condition's significant burden and epidemiology.
- - The recommendations suggest using the term MASLD instead of non-alcoholic fatty liver disease (NAFLD), noting that the disease is particularly common among overweight Indian children and adolescents, and is often asymptomatic or shows mild symptoms,
Timely diagnosis and management of pediatric acute liver failure (PALF) is of paramount importance to improve survival. The Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition invited national and international experts to identify and review important management and research questions. These covered the definition, age appropriate stepwise workup for the etiology, non-invasive diagnosis and management of cerebral edema, prognostic scores, criteria for listing for liver transplantation (LT) and bridging therapies in PALF.
View Article and Find Full Text PDFBackground And Aims: The study aimed to describe the clinical course and outcomes, and analyze the genotype-phenotype correlation in patients with tight junction protein 2 (TJP2) deficiency.
Approach And Results: Data from all children with chronic cholestasis and either homozygous or compound heterozygous mutations in TJP2 were extracted and analyzed. The patients were categorized into 3 genotypes: TJP2-A (missense mutations on both alleles), TJP2-B (missense mutation on one allele and a predicted protein-truncating mutation [PPTM] on the other), and TJP2-C (PPTMs on both alleles).