Differential modulation of the hepatocellular metabolome, cytoprotective and inflammatory responses due to endotoxemia and lipotoxicity.

The present work aimed to examine the primary mechanisms of liver damage, namely the impact of gut-derived endotoxins along the gut-liver axis and adipose-derived free fatty acids along the adipose-liver axis. These processes are known to play a significant role in the development of hepatic inflammation and steatosis. Although possible overlapping in the pathogenesis was expected, these processes have unique pathophysiological consequences.

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.

Hepatic Mesenchymal Hamartoma With Elevated Alpha-Fetoprotein: A Diagnostic Dilemma.

Hepatic mesenchymal hamartoma (HMH) is an uncommon, benign liver tumor predominantly affecting children under three years of age. It is characterized histologically by disorganized mesenchymal stroma, abnormal bile ducts, blood vessels, and hepatocytes. HMH can present as a large cystic mass, a solid mass, or a combination of both.