Gastrointestinal involvement in STEC-associated hemolytic uremic syndrome: 10 years in a pediatric center.

Background: The gastrointestinal (GI) tract represents one of the main targets of typical hemolytic uremic syndrome (HUS) in children. In this observational study, we tried to establish (1) the main features of GI complications during STEC-HUS and (2) the relationship between Escherichia coli serotypes and Shiga toxin (Stx) variants with hepatopancreatic involvement.

Methods: A total of 79 STEC-HUS patients were admitted to our pediatric nephrology department between January 2012 and June 2021.

Novel Variant in the Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.

Introduction: The X-chromosomal gene encodes a deubiquitylating enzyme involved in protein turnover and TGF-β signaling during fetal and neuronal development. variants in females are primarily associated with complete loss-of-function (LOF) alleles, leading to neurodevelopmental delay and intellectual disability, as well as a wide range of congenital anomalies. In contrast, missense variants in males often result in partial rather than complete LOF, specifically affecting neuronal migration and development.

Case report: Late-onset hypertrophic pyloric stenosis in a 3-year-old boy: It is never too late.

Hypertrophic Pyloric Stenosis (HPS) represents a relatively rare occurrence beyond infancy. Here, we present the case of a barely 3-year-old boy diagnosed with late-onset HPS and successfully treated with extra-mucosal pyloromyotomy. We review the literature, challenging the principle that more aggressive surgical approaches should be preferred over less invasive ones.