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.

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.

Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal.

Neonatal cholestasis (NC) starts during the first three months of life and comprises extrahepatic and intrahepatic groups of diseases, some of which have high morbimortality rates if not timely identified and treated. Prolonged jaundice, clay-colored or acholic stools, and choluria in an infant indicate the urgent need to investigate the presence of NC, and thenceforth the differential diagnosis of extra- and intrahepatic causes of NC. The differential diagnosis of NC is a laborious process demanding the accurate exclusion of a wide range of diseases, through the skillful use and interpretation of several diagnostic tests.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, its etiology in infants is much less understood. In this study, we report 14 children from ten unrelated families presenting with a syndromic form of pediatric liver cirrhosis.

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.

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

Background And Aims: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.

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.

Differentially expressed mRNAs, proteins and miRNAs associated to energy metabolism in skeletal muscle of beef cattle identified for low and high residual feed intake.

Background: Feed efficiency is one of the most important parameters that affect beef production costs. The energy metabolism of skeletal muscle greatly contributes to variations in feed efficiency. However, information regarding differences in proteins involved in the energy metabolism of the skeletal muscle in beef cattle divergently identified for feed efficiency is scarce.

Clinical effect of Lactobacillus on the treatment of severe periodontitis and halitosis: A double-blinded, placebo-controlled, randomized clinical trial.

Purpose: To evaluate the clinical association between Lactobacillus and the efficacy of adjuvant treatment of severe periodontitis, periodontal parameters, and halitosis.

Methods: 60 healthy volunteers with severe periodontitis were randomized into two groups to receive periodontal therapy in a single session and lactobacillus or a placebo for 90 days. The test group received Lactobacillus reuteri, salivarius and acidophilus, and the control group received placebo with xylitol.

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.

Effectiveness of muscle strengthening and description of protocols for preventing falls in the elderly: a systematic review.

Background: Falls are a geriatric syndrome that is considered a significant public health problem in terms of morbidity and mortality because they lead to a decline in functional capacity and an impaired quality of life in the elderly. Lower limb muscle strengthening seems to be an effective intervention for preventing falls; however, there is no consensus regarding the best method for increasing lower limb muscle strength.

Objectives: To analyze the effectiveness of lower limb muscle strengthening and to investigate and describe the protocols used for preventing falls in elderly subjects.

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.