Screening for Lysosomal Acid Lipase Deficiency in a Lipid Clinic.

Background: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disease, with massive accumulation of cholesteryl esters and triglycerides in many organs, leading to hepatosplenomegaly, microvesicular steatosis, cirrhosis and premature death. Early recognition is crucial for timely enzyme replacement therapy.

Objectives: To screen for LAL-D in subjects with dyslipidemias and/or liver disease at an outpatient lipid clinic.

Behavior of Blood Pressure Variables in Children and Adolescents with Duchenne Muscular Dystrophy.

Background: Duchenne muscular dystrophy is an X-chromosome-linked genetic disorder (locus Xp21). Involvement of the cardiovascular system is characterized by fibrous degeneration/replacement of myocytes with consequent ventricular hypertrophy and arterial hypertension.

Objective: To assess, by using 24-hour ambulatory blood pressure monitoring, the behavior of blood pressure variables in children and adolescents with a confirmed diagnosis of Duchenne muscular dystrophy.