Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

Ineffective penicillin treatment and absence of partner treatment may drive the congenital syphilis epidemic in Brazil.

Background: Reducing congenital syphilis has been the focus of Brazilian health programs for decades, yet the cases continue to increase. Although health interventions have targeted HIV screening and treatment, syphilis management continues to be challenging. Syphilis during pregnancy may enhance the HIV maternal seroconversion risk.

Prospective cohort study of children exposed to hepatitis C virus through a pregnancy screening program.

Objectives: Porto Alegre, in south Brazil, has one of the highest hepatitis C virus (HCV) infection rates in the country (84.4 cases/100 000 in 2018). Prenatal screening of HCV, however, has not been routinely offered.

Prevalence of celiac disease in a large cohort of young patients with type 1 diabetes.

Background: Serological screening for celiac disease (CD) allows the identification of individuals genetically predisposed, as type 1 diabetes mellitus (T1DM). However, the diagnosis is confirmed by intestinal biopsy. The aim was to determine the prevalence of immunoglobulin-A anti-tissue transglutaminase antibodies (IgA-tTG) and CD in a large cohort of young T1DM patients.

Hirschsprung disease and hepatoblastoma: case report of a rare association.

Context: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000.

Cirrhosis in children and adolescents: An overview.

Several conditions, especially chronic liver diseases, can lead to cirrhosis in children and adolescents. Most cases in clinical practice are caused by similar etiologies. In infants, cirrhosis is most often caused by biliary atresia and genetic-metabolic diseases, while in older children, it tends to result from autoimmune hepatitis, Wilson's disease, alpha-1-antitrypsin deficiency and primary sclerosing cholangitis.

Low plasma zinc concentrations in pediatric patients with cirrhosis.

Objective: To determine plasma zinc concentrations in children and adolescents with cirrhosis and to investigate the association between these results and dietary zinc intake, anthropometric data, and severity of liver disease.

Methods: Plasma zinc concentration was assessed by atomic absorption spectrophotometry in 30 children and adolescents with cirrhosis (105.0+/-60.

[Nutritional risk and malnutrition determination by anthropometry in cirrhotic children and adolescents].

Background: The malnutrition is a frequent finding in adults with cirrhosis, but the prevalence of nutritional risk and malnutrition is little known in pediatric patients.

Aim: To evaluate through anthropometry the presence of nutritional risk and malnutrition in cirrhotic pediatric patients regularly attended at the Pediatric Gastroenterology Service of "Hospital de Clínicas" of Porto Alegre, RS, Brazil.

Methods: Cross-sectional study with 42 cirrhotic children and adolescents aged between 3 months and 18 years.

Portal vein thrombosis in children and adolescents: the low prevalence of hereditary thrombophilic disorders.

Purpose: The aim of this study was to determine the frequency of thrombophilic disorders in children and adolescents with portal vein thrombosis (PVT) as well as assessing the hereditary character of this disorder.

Methods: A 2-year prospective study was carried out in pediatric PVT patients (n = 14), their parents (n = 25), and an age-matched control group free of liver disease (n = 28). The presence of PVT was assessed by means of Doppler ultrasound scan or angiography.

[Thrombophilic disorders in children and adolescents with portal vein thrombosis].

Objective: To determine the frequency of protein C, protein S and antithrombin deficiency, and factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations in children and adolescents with portal vein thrombosis, as well as assessing the hereditary character of this disorders.

Methods: A two-year study was carried out to determine the frequency of thrombophilic disorders in children and adolescents with portal vein thrombosis (n = 14), their parents (n = 24), and two control groups, one age-matched children and adolescents free of liver disease (n = 28) and another group with cirrhosis (n = 24). The portal vein thrombosis patients were investigated by clinical and laboratory means, esophagogastroduodenal endoscopy and liver biopsies.