Objectives: Spontaneous portosystemic shunts (SPSSs) are associated with complications and death in cirrhosis. We evaluated chronic portosystemic encephalopathy (CPSE) and survival in cirrhotic patients with massive (>10 mm diameter) SPSS (MSPSS).
Methods: We have retrospectively compared 77 cirrhotic patients with MSPSS and 77 paired-matched patients without SPSS.
Background: Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of the disease, as implantation of early therapeutic measures fully prevents its symptoms. As population genetics data predict a higher than initially expected prevalence, it was important to define the basic diagnostic tools to approach population screening.
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