Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.

Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes.

Non-invasive predictors of esophageous varices in children and adolescents with chronic liver disease or extrahepatic portal venous obstruction.

Objective: To identify non-invasive predictors of esophageal varices in children and adolescents with chronic liver disease or extrahepatic portal venous obstruction (EHPVO).

Methods: 53 patients younger than 20 years with chronic liver disease or EHPVO and no history of bleeding or prophylactic treatment of esophageal varices (EV) were assessed. They were divided into 2 groups: group I (35 with chronic liver disease) and group II (18 with EHPVO).

Biliary atresia: the Brazilian experience.

Objective: To evaluate epidemiological, clinical and prognostic characteristics of children with biliary atresia.

Methods: Data regarding portoenterostomy, liver transplantation (LTx), age at last follow-up and survival were collected from the records of patients followed up in six Brazilian centers (1982-2008) and compared regarding decades of surgery.

Results: Of 513 patients, 76.

Cytomegalovirus frequency in neonatal intrahepatic cholestasis determined by serology, histology, immunohistochemistry and PCR.

Aim: To determine cytomegalovirus (CMV) frequency in neonatal intrahepatic cholestasis by serology, histological revision (searching for cytomegalic cells), immunohistochemistry, and polymerase chain reaction (PCR), and to verify the relationships among these methods.

Methods: The study comprised 101 non-consecutive infants submitted for hepatic biopsy between March 1982 and December 2005. Serological results were obtained from the patient's files and the other methods were performed on paraffin-embedded liver samples from hepatic biopsies.

Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report.

Background/purpose: The purpose of the study was to describe the initial experience with a novel approach to the surgical treatment of progressive familial intrahepatic cholestasis (PFIC), avoiding the creation of a permanent stoma.

Methods: Two teenaged patients, aged 15 and 17 years, underwent partial internal biliary diversion to treat uncontrollable pruritus associated with PFIC. The surgical technique involved the creation of an isolated jejunal conduit, anastomosed proximally in a terminolateral fashion to the gallbladder and distally to the ascending colon.

Clinical and biochemical features of autoimmune hepatitis in 36 pediatric patients.

Background: Few studies on autoimmune hepatitis have enrolled non-Caucasian groups.

Aims: To evaluate Brazilian children with type 1 and 2 autoimmune hepatitis regarding outcome and clinical and biochemical parameters.

Patients And Methods: Thirty-six patients were submitted to a protocol that evaluated the clinical history, physical and biochemical data, and the course of the disease.

High frequency of human cytomegalovirus DNA in the liver of infants with extrahepatic neonatal cholestasis.

Background: Biliary atresia (BA) is the most severe hepatic disorder in newborns and its etiopathogenesis remains unknown. Viral involvement has been proposed, including the human cytomegalovirus (HCMV). The aims of the study were to use the polymerase chain reaction (PCR) to screen the liver tissue of infants with extrahepatic cholestasis for HCMV and to correlate the results with serological antibodies against HCMV and histological findings.

Paucity of intrahepatic bile ducts in infancy--experience of a tertiary center.

Background: Intrahepatic cholestasis secondary to paucity of bile duct is an alteration of the anatomic integrity of the biliary tract. Can be defined only histologically and, clinically, two categories are recognized: syndromic and non-syndromic, where the prognosis is generally more severe.

Aim: To evaluate the history, clinical and biochemical characteristics, etiology and improvement of children who have paucity of intrahepatic bile duct followed at tertiary center.

Caroli's disease: 6 case studies.

Caroll's disease is characterized by congenital non-obstructive dilatation of the intrahepatic bile ducts of undefined etiology. It is a rare disease usually affecting the whole liver but it may affect a lobe or a segment (11). This study shows the evolution of 6 cases (2 boys and 4 giris) that were diagnosed with Caroli's disease at a referral service.

Steroid-induced cataracts in patients with autoimmune hepatitis.

Background: Posterior subcapsular cataract (PSC) has been reported in patients on corticosteroids therapy for various pathologies. Autoimmune hepatitis (AIH) is a progressive inflammatory hepatic disease for which corticosteroids are recommended but PSC has not yet been reported in AIH patients on corticosteroids therapy.

Methods: The AIH patients at our service underwent an ophthalmological assessment and their files were analyzed establish the dosage and duration of medication, the presence of visual complaints and the type of AIH, in order to correlate these with the ophthalmological findings.