Multicentre, retrospective study to assess long-term outcomes of chelator based treatment with trientine in Wilson disease patients withdrawn from therapy with d -penicillamine.

Objectives: Trientine dihydrochloride (TETA-2HCl) has been used for the treatment of Wilson disease for over 30 years. The current study was designed to systematically evaluate existing data to further define the long-term outcome of the efficacy and tolerability of TETA-2HCl in Wilson disease patients.

Methods: Medical records of 77 Wilson disease patients were reviewed to collect data on hepatic and neurologic symptoms, copper (Cu) homeostasis and adverse events.

Prevalence and clinical course of hepatitis delta infection in Greece: a 13-year prospective study.

Background & Aims: Hepatitis D virus (HDV) has decreased in Europe, but recent reports indicate a rising trend. We report the epidemiological changes, clinical progress, and effect of treatment on the natural course of HDV infection in Greece during the last 13 years.

Methods: Prospective data were extracted from the HepNet.

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.

Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome. Fluorescent in situ hybridization analysis (FISH), MLPA or multiplex quantitative PCR allow detection of total/partial NSD1 deletions and direct sequencing allows detection of NSD1 mutations. We describe two boys with Sotos syndrome in whom PCR amplification and direct sequencing of the NSD1 gene identified two novel mutations not previously described: c.

Hepatitis C treatment concomitant to chemotherapy as "salvage" therapy in children with hematologic malignancies.

In patients with malignancies, chronic hepatitis C reactivation or severe flare is uncommon and antiviral treatment is deferred mainly due to underlying bone marrow and immune suppression. We report the use of antiviral treatment concomitantly to chemotherapy in 3 children with hematologic malignancies, chronic hepatitis C, and significant liver dysfunction.