Ursodeoxycholic acid therapy in children with cholestatic liver disease.

The beneficial effect of ursodeoxycholic add have been documented in adults but experience with this agent is limited in the pediatric population. The objective of this study was to evaluate ursodeoxycholic acid treatment in children with cholestatic liver disease. Twenty-four patients with intrahepatic cholestasis (neonatal hepatitis 7, Byler disease 7, idiopathic intrahepatic cholestasis 10) whose ages ranged from 1.

Wilson's disease with hepatic presentation in childhood.

Objective: To evaluate clinical, laboratory findings, treatment and long-term follow-up of children with Wilson's disease with hepatic presentation.

Design: Retrospective study with a median follow-up period of 9 years.

Setting: University medical center.

Interferon-alpha treatment for chronic hepatitis C in children.

Interferon-alpha therapy has been proven efficient in chronic hepatitis C infection. Although it has been used as a standard therapy in adults, there are limited data on benefits of interferon treatment in children. We conducted a study of recombinant interferon-alpha therapy in 10 children with chronic hepatitis C.

Propranolol for primary and secondary prophylaxis of variceal bleeding in children with cirrhosis.

Variceal bleeding due to portal hypertension is a frequent and severe complication of cirrhosis in children as in adults. The prophylactic approach is important for these high mortality bleedings, both for the first and for recurrent attacks. Variceal bleeding/rebleeding rates were evaluated in sixty patients with cirrhosis who received 1-2 mg/kg/day propranolol p.

Comparison of standard and high dosage recombinant interferon alpha 2b for treatment of children with chronic hepatitis B infection.

Background: Interferon is currently the most useful therapeutic agent for chronic viral hepatitis. The aim of this study was to compare the efficacy of standard and high dosages of interferon in children with chronic hepatitis B virus (HBV) infection.

Methods: Thirty children with chronic hepatitis B infection were randomly assigned to receive 5 million units/m2 body surface area (Group I) or 10 million units/m2 body surface area (Group II) recombinant interferon alpha 2b three times weekly for 6 months.

Ursodeoxycholic acid treatment in children with Byler disease.

Background: There have been a few reports of patients with Byler disease and the best medical treatment is not known. The aim of the present study is to show the effect of ursodeoxycholic acid (UDCA) on clinical, laboratory and histologic findings in children with Byler disease.

Methods: Nine children aged between 1.

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them.

Cholesteryl ester storage disease: case report during childhood.

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3(1/2)-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have marked insulin resistance, hypertriglyceridemia and acanthosis nigricans, and develop diabetes mellitus during teenage years. The genetic defect for CGL is unknown.

Retreatment with higher dose interferon alpha in children with chronic hepatitis B infection.

Background: More than 50% of children with chronic hepatitis B infection do not respond to interferon-alpha (IFN-alpha) treatment and are prone to have progressive liver disease. The best treatment modality is unknown in these children. The aim of this study was to evaluate the possible benefit of a second higher dose IFN-alpha therapy for children with chronic hepatitis B diseases who failed previous therapy.

Recombinant interferon-alpha-2A with or without steroid pretreatment in children with chronic hepatitis B.

Interferon is the most promising therapeutic agent for the treatment of chronic viral hepatitis. The results of studies suggest that corticosteroid pretreatment may improve the response rate. Twenty-nine children with chronic hepatitis B (CHB) were randomly assigned to receive recombinant interferon alpha (rIFN-alpha) alone (Group 1.

Acromesomelic dysplasia associated with mild lumbar spine stenosis.

A rare case of acromesomelic dysplasia is reported. The radiological findings were consistent with shortness of all tubular bones, especially those of the forearms. There was also evidence of mild lumbar spine stenosis.

Long-term follow-up of hepatitis B virus carriers with normal transaminases levels.

There has been very little data recorded on the natural course of chronic hepatitis B virus infection in asymptomatic children. In order to assess the natural course of liver disease in hepatitis B surface antigen (HBsAg) carriers with normal liver tests, 124 such children (81 males, 65.3%) were followed for six to 144 months (mean 36.

Pseudotumor formation in tibia in Gaucher's disease.

A very rare case of type 1 Gaucher's disease with pseudotumor formation in the right tibia is presented. In addition to the characteristic radiographic finding of distal femoral flaring (Erlenmeyer flask deformity), a lobulated osteolytic area with surrounding sclerosis was seen in the proximal metaphysis of the right tibia. Adjacent to this pseudotumor appearance was an old pathologic fracture and no significant soft tissue swelling was evident, both of these features being reported for the first time in association with Gaucher's disease.