Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.

Pediatric Liver Transplantation: Caregivers' Quality of Life.

Purpose: The survival rate of pediatric patients undergoing liver transplantation has increased considerably. Despite this, the period after transplantation is still complex and poses several challenges to the recipient's family, which is responsible for care management. Recently, more attention has been paid to the impact of this complex procedure on the quality of life of caregivers.

Progressive Familial Intrahepatic Cholestasis Type 2 and Recurrence After Liver Transplantation: A Case Report.

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare autosomal recessive disorder caused by mutations in the ABCB11 gene. Clinical manifestations include cholestasis with low γ-glutamyltransferase (GGT), hepatosplenomegaly, and severe pruritus. Liver transplantation is required for individuals with progressive liver disease or failure of the bypass procedure and has been considered curative.

Autoimmune Hepatitis: Predictors of Native Liver Survival in Children and Adolescents.

Objective: To determine predictors of native liver survival (NLS) in children and adolescents with autoimmune hepatitis (AIH).

Study Design: The medical records of children and adolescents with AIH were reviewed. A questionnaire was used to collect data on clinical presentation, biochemical and histologic findings, and treatment.

Relationship between beta-adrenergic agonists, calpain system activity and beef texture: A systematic review.

The objective was to conduct a systematic review to evaluate the effects of dietary supplementation with beta-adrenergic agonists on calpains and calpastatin activity in bovine muscle and changes in meat tenderness. A survey was conducted in June 2019 on Science Direct, Web of Science, Scopus, PubMed and Capes Periodicals, using four keyword combinations: agonist and calpain and cattle; agonist and calpain and bovine; agonist and calpain and heifers; agonist and calpain and steers. Thirteen studies were selected, 54% concluded that supplementation with beta-adrenergic agonists increases calpastatin activity, 23% observed increase in their gene expression and 23% reported no effect on activity or expression of this enzyme.

Foreign Body Granuloma in the Tongue by a Pequi Spine.

Substances considered foreign to the human organism can penetrate it due to local trauma, initially causing an acute inflammatory response against these substances, involving a neutrophilic infiltrate that, when it fails to deal with these foreign bodies, ends up generating a granulomatous inflammatory response. Granuloma formation has been associated with a variety of conditions. The correct clinical and imaging diagnoses are extremely important for the dentist to choose an appropriate therapeutic approach, aiming at the best possible treatment.

Quality of Life in Children and Adolescents with Inflammatory Bowel Disease: Impact and Predictive Factors.

Purpose: Inflammatory bowel disease (IBD) in children and adolescents is associated with high morbidity and possibly has a significant negative impact on their quality of life. This study aimed to evaluate the quality of life of children and adolescents with IBD and define the variables that impact these individuals.

Methods: We administered the Pediatric Quality of Life Questionnaire (PedsQL) to 35 children and adolescents diagnosed with IBD and with available quantitative data from clinical records on epidemiology, clinical evolution, complementary tests, medical interventions, and disease activity.

Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents.

Purpose: The objective of this study was to describe the clinical phenotypes of children and adolescents with cystic fibrosis (CF); and to assess the role of pancreatic insufficiency and neonatal screening in diagnosis.

Methods: A cross-sectional study was conducted, which included 77 patients attending a reference center of CF between 2014 and 2016. Epidemiological data, anthropometric measurements, and the presence of pulmonary, pancreatic, gastrointestinal and hepatobiliary manifestations were evaluated based on clinical data and complementary examinations.

Autoimmune hepatitis in 828 Brazilian children and adolescents: clinical and laboratory findings, histological profile, treatments, and outcomes.

Objective: This large study with a long-term follow-up aimed to evaluate the clinical presentation, laboratory findings, histological profile, treatments, and outcomes of children and adolescents with autoimmune hepatitis.

Methods: The medical records of 828 children and adolescents with autoimmune hepatitis were reviewed. A questionnaire was used to collect anonymous data on clinical presentation, biochemical and histological findings, and treatments.

Autoimmune Hepatitis in Children and Adolescents: Effect on Quality of Life.

Objectives: The aim of this study was to evaluate the effect of autoimmune hepatitis (AIH) on the quality of life of children and adolescents and to identify which variables effect health-related quality of life (HRQoL).

Methods: The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.

Use of sanitizing products: safety practices and risk situations.

Objectives: to evaluate the handling and risk factors for poisoning and/or digestive tract injuries associated with the use of sanitizing products at home.

Methods: interviews were conducted in 419 households from different regions, collecting epidemiological data from residents and risk habits related to the use and storage of cleaning products.

Results: sanitizing products considered to be a health risk were found in 98% of the households where the research was conducted, and in 54% of cases, they were stored in places easily accessible to children.

Gastroesophageal reflux disease: exaggerations, evidence and clinical practice.

Objective: there are many questions and little evidence regarding the diagnosis and treatment of gastroesophageal reflux disease (GERD) in children. The association between GERD and cow's milk protein allergy (CMPA), overuse of abdominal ultrasonography for the diagnosis of GERD, and excessive pharmacological treatment, especially proton-pump inhibitors (PPIs) are some aspects that need clarification. This review aimed to establish the current scientific evidence for the diagnosis and treatment of GERD in children.

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.

Extrahepatic biliary atresia: current concepts and future directions.

Objective: To provide an updated review on extrahepatic biliary atresia, focusing mainly on its etiopathogenesis, diagnosis, treatment and prognosis.

Sources: MEDLINE and PubMed databases were searched using the following keywords: biliary atresia, etiopathogenesis, diagnosis, treatment, prognosis, children.

Summary Of The Findings: Extrahepatic biliary atresia is the main indication for liver transplantation among pediatric patients.