Publications by authors named "A Dezsofi"
Introduction: Sarcopenia is associated with poor clinical outcomes in chronic diseases. Our study aimed to characterize body composition (BC) parameters in patients with inflammatory bowel disease (IBD) and compare skeletal muscle mass (SMM) parameters with the healthy pediatric population.
Methods: BC of healthy controls (HC) and of patients with IBD were measured via multifrequency bioelectrical impedance (InBody 720 device) in a cross-sectional manner.
Background 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.
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- - Pediatric acute liver failure (PALF) is a serious condition with up to 50% of cases remaining unexplained, hindering effective treatment options like liver transplantation.
- - In a study involving 260 children from 19 countries, whole-exome sequencing (WES) identified genetic causes in 37% of indeterminate PALF cases, with a particularly high diagnostic rate in infants and those with recurrent liver failure.
- - The research uncovered 36 distinct genes associated with PALF, highlighting mitochondrial diseases as the most common cause and underscoring the need for advanced genetic testing in diagnosing and treating this condition.
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 () gene. Acid sphingomyelinase deficiency is characterized by a spectrum of disease and is broadly divided into three types (ASMD type A, ASMD type A/B, and ASMD type B). More than 220 disease-associated variants have been reported, and genotype/phenotype correlations are limited.
View Article and Find Full Text PDFBackground & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.
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