Echinococcal disease can present with giant abdominal cysts at very young age: A case report.

Echinococcus granulosus larvae can cause cystic echinococcosis (CE, also known as hydatid disease) in humans. The latent phase of hydatid disease lasts for years as a result of the slow growth of the cysts, which only become symptomatic when they are large. Therefore, CE is seldomly seen in very young children.

Noninvasive scores are poorly predictive of histological fibrosis in paediatric fatty liver disease.

Objectives: Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in children. Roughly a quarter of paediatric patients with NAFLD develop nonalcoholic steatohepatitis and fibrosis. Here, we evaluated the diagnostic accuracy of previously published noninvasive fibrosis scores to predict liver fibrosis in a large European cohort of paediatric patients with NAFLD.

A multisociety Delphi consensus statement on new fatty liver disease nomenclature.

The principal limitations of the terms NAFLD and NASH are the reliance on exclusionary confounder terms and the use of potentially stigmatising language. This study set out to determine if content experts and patient advocates were in favor of a change in nomenclature and/or definition. A modified Delphi process was led by three large pan-national liver associations.

A multisociety Delphi consensus statement on new fatty liver disease nomenclature.

The principal limitations of the terms NAFLD and NASH are the reliance on exclusionary confounder terms and the use of potentially stigmatising language. This study set out to determine if content experts and patient advocates were in favour of a change in nomenclature and/or definition. A modified Delphi process was led by three large pan-national liver associations.

A multisociety Delphi consensus statement on new fatty liver disease nomenclature.

The principal limitations of the terms NAFLD and NASH are the reliance on exclusionary confounder terms and the use of potentially stigmatising language. This study set out to determine if content experts and patient advocates were in favor of a change in nomenclature and/or definition. A modified Delphi process was led by three large pan-national liver associations.

Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms.

Genome-wide association studies in adults have identified variants in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) and mitochondrial amidoxime reducing component 1 (MTARC1) as protective against nonalcoholic fatty liver disease (NAFLD). We aimed to test their association with pediatric NAFLD liver histology and investigate their function using metabolomics. A total of 1450 children (729 with NAFLD, 399 with liver histology) were genotyped for rs72613567T>TA in HSD17B13, rs2642438G>A in MTARC1, and rs738409C>G in patatin-like phospholipase domain-containing protein 3 (PNPLA3).

Comparison of the Lipidomic Signature of Fatty Liver in Children and Adults: A Cross-Sectional Study.

Objective: Non-alcoholic fatty liver disease (NAFLD) is an increasingly common condition in children characterised by insulin resistance and altered lipid metabolism. Affected patients are at increased risk of cardiovascular disease (CVD) and children with NAFLD are likely to be at risk of premature cardiac events. Evaluation of the plasma lipid profile of children with NAFLD offers the opportunity to investigate these perturbations and understand how closely they mimic the changes seen in adults with cardiometabolic disease.

Hepatic late adverse effects after antineoplastic treatment for childhood cancer.

Background: Survival rates have greatly improved as a result of more effective treatments for childhood cancer. Unfortunately, the improved prognosis has been accompanied by the occurrence of late, treatment-related complications. Liver complications are common during and soon after treatment for childhood cancer.

Identification of human D lactate dehydrogenase deficiency.

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate.

Relationship of clinical symptoms with biomarkers of inflammation in pediatric inflammatory bowel disease.

Unlabelled: In adult inflammatory bowel disease (IBD) patients, there is a strong discrepancy between symptoms and biomarkers of inflammation. Data on pediatric IBD patients are conflicting. Therefore, we aimed to investigate the relationship between clinical symptoms and biomarkers of inflammation in pediatric IBD.

Cholic acid therapy in Zellweger spectrum disorders.

Introduction: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in different PEX genes. At least some of the progressive and irreversible clinical abnormalities in patients with a ZSD, particularly liver dysfunction, are likely caused by the accumulation of toxic bile acid intermediates. We investigated whether cholic acid supplementation can suppress bile acid synthesis, reduce accumulation of toxic bile acid intermediates and improve liver function in these patients.

Noncirrhotic Portal Hypertension in Perinatally HIV-infected Adolescents Treated With Didanosine-containing Antiretroviral Regimens in Childhood.

Background: Noncirrhotic portal hypertension (NCPH) has been reported in HIV-infected adults. Antiretroviral drugs, as well as genetic and thrombophilic predisposition, have been suggested as possible etiologic factors.

Methods: Clinical data were collected from 6 HIV-infected patients attending the Infectious Diseases Departments at respectively Emma Children's Hospital Academic Medical Centre in Amsterdam, The Thai Red Cross AIDS Research Centre, Bangkok, Imperial College Healthcare NHS Trust, London who were diagnosed with NCPH.

A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.

Non-cirrhotic portal hypertension is characterized by histopathological abnormalities in the liver, mostly affecting small intrahepatic portal veins that cause portal hypertension in the absence of cirrhosis. It can be secondary to coagulation disorders or toxic agents. However, most cases are idiopathic non-cirrhotic portal hypertension (INCPH) and familial cases are rare.

Electromagnetic Guided Postpyloric Tube Placement in Children: A Feasible and Promising Technique.

Objectives: Postpyloric feeding tube (PPFT) placement can be cumbersome. Fluoroscopic and endoscopic placements are required when unguided placement fails. We aimed to evaluate the feasibility and safety of PPFT placement in children, using an electromagnetic (EM) guided system as a rescue strategy in case unguided tube insertion fails.

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Objective: Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing.

Accuracy of prediction scores and novel biomarkers for predicting nonalcoholic fatty liver disease in obese children.

Background: Accurate prediction scores for liver steatosis are demanded to enable clinicians to noninvasively screen for nonalcoholic fatty liver disease (NAFLD). Several prediction scores have been developed, however external validation is lacking.

Objective: The aim was to determine the diagnostic accuracy of four existing prediction scores in severely obese children, to develop a new prediction score using novel biomarkers and to compare these results to the performance of ultrasonography.

Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment.

Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later diagnosed as a rare form of a communicating bronchopulmonary foregut malformation, an esophageal atresia combined with right main bronchus originating from the lower esophagus. Therapeutic resection of the right lung was complicated by postpneumonectomy syndrome.

Surveillance of hepatic late adverse effects in a large cohort of long-term survivors of childhood cancer: prevalence and risk factors.

Background: Childhood cancer survivors (CCS) are a growing group of young individuals with a high risk of morbidity and mortality. We evaluated the prevalence and risk factors of hepatic late adverse effects, defined as elevated liver enzymes, in a large cohort of CCS.

Methods: The cohort consisted of all five-year CCS treated in the EKZ/AMC between 1966 and 2003, without hepatitis virus infection and history of veno-occlusive disease (VOD).

[Dysphagia after introduction of solid food: typical presentation of congenital oesophageal stenosis].

Background: Congenital oesophageal stenosis is a rare cause of food passage symptoms in infants. It has a typical presentation with symptoms of dysphagia of solid food, starting at the time of introducing supplementary feeding.

Case Description: We present a 6-month-old girl, who started spitting and coughing and had a slower growth rate after the introduction of solid food.

US cannot be used to predict the presence or severity of hepatic steatosis in severely obese adolescents.

Purpose: To evaluate the diagnostic accuracy of ultrasonography (US) for the assessment of hepatic steatosis in severely obese adolescents, with proton magnetic resonance (MR) spectroscopy as the reference standard, and to provide insight on the influence of prevalence on predictive values by calculating positive and negative posttest probabilities.

Materials And Methods: This prospective study was institutional review board approved. All participants, and/or their legal representatives, gave written informed consent.

Hepatic late adverse effects after antineoplastic treatment for childhood cancer.

Background: Survival rates have greatly improved as a result of more effective treatments for childhood cancer. Unfortunately the improved prognosis has resulted in the occurrence of late, treatment-related complications. Liver complications are common during and soon after treatment for childhood cancer.

Lifestyle intervention for non-alcoholic fatty liver disease: prospective cohort study of its efficacy and factors related to improvement.

Background: Non-alcoholic fatty liver disease (NAFLD) has a high prevalence in obese children. Lifestyle intervention is the primary treatment for NAFLD. However, limited data are available regarding the efficacy of lifestyle interventions.