Publications by authors named "Ashritha A"
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 PDFObjectives: This study aimed to evaluate the safety and efficacy of therapeutic plasma exchange (TPE) in pediatric acute liver failure (PALF).
Methods: All children aged 2-18 years with PALF were included. The intervention cohort included a subset of PALF patients undergoing complete three sessions of TPE, whereas the matching controls were derived by propensity score matching from the patient cohort who did not receive any TPE.
Background 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).
Objectives: Midodrine, an oral α-1-adrenergic receptor agonist, counters arterial hypovolemia and reduces complications in adult patients with cirrhosis. This randomized controlled trial (RCT) aimed to assess the efficacy and safety of midodrine in preventing complications and improving survival in children with cirrhosis and ascites who are awaiting liver transplantation (LT).
Methods: This open-label RCT conducted from January 2022 to May 2023 included children under 18 years with cirrhosis and ascites.
Background/objectives: Adherence to medication(s) is an essential component of holistic management in any chronic disease including in post liver transplant (LT) patients. Thus, this study aimed to assess adherence to medications in Indian pediatric liver disease patients (including post LT recipients) and to identify variables affecting its occurrence.
Methods: A cross-sectional study was conducted among pediatric (<18 years of age) subjects with Wilson disease (WD) and autoimmune liver disease (AILD) along with post LT recipients from May 2021 to October 2021.
The objective of this study was to evaluate the feasibility, safety, and diagnostic accuracy of percutaneous cholecystocholangiography (PCC) in cases of conjugated hyperbilirubinemia in which biliary atresia (BA) could not be diagnosed or ruled out based on clinical, radiological, and histopathological findings. This was a retrospective, chart review of all cholestatic infants who underwent PCC within the last 5 y. PCC was performed via the transhepatic route using 23-g needle.
View Article and Find Full Text PDFEvaluation of Bone Mineral Density in Children With Hemophilia: An Observational Case-Control Study.
J Pediatr Hematol Oncol
October 2019
Objectives: The objectives of this study were to study bone mineral content (BMC), bone mineral density (BMD), vitamin D level, and bone turnover markers in children with hemophilia and compare it with their normal counterparts.
Design: This was an observational case-control study.
Setting: This study was conducted in our tertiary care institute during the period spanning from September 2016 to June 2018.