Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.

Occupational exposure to carcinogenic wood dust in two Italian biomass power plants.

In this study we monitored exposure to airborne dust in workers performing various tasks at two biomass-fuelled thermal power plants (27 and 46 MW) over six years. The plants are mainly fuelled by forest wood chips and, to a lesser extent, by agro-food products, with annual consumption of about 300 and 450 kt. We focused on inhalable wood dust because of its potential carcinogenicity to humans.

Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro.

Dietary sphingomyelin (SM) has been reported to favorably modulate postprandial lipemia. Mechanisms underlying these beneficial effects on cardiovascular risk markers are not fully elucidated. Rodent studies showed that tritiated SM was hydrolyzed in the intestinal lumen into ceramides (Cer) and further to sphingosine (SPH) and fatty acids (FA) that were absorbed by the intestine.