Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.

Objectives: Paediatric acute liver failure (PALF) is a rare but life-threatening condition, yet comprehensive epidemiological data in Germany are lacking. Our study aimed to systematically analyse incidence, aetiology, and outcome of PALF in Germany.

Methods: In a nationwide, population-based surveillance study, cases of PALF (defined following the PALF study group inclusion criteria) were queried from 2016 to 2018 through the German Paediatric Surveillance Unit (ESPED).

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.

Neonatal sclerosing cholangitis (NSC) is associated with progressing biliary fibrosis that often requires liver transplantation in childhood. Several recent studies have identified variants in DCDC2, encoding doublecortin domain-containing protein 2 (DCDC2), expressed in primary cilia, that accompany syndromic disease and NSC. We report four patients with hepatobiliary disease associated with two novel homozygous or compound heterozygous variants in DCDC2.

Comments and illustrations of the WFUMB CEUS liver guidelines: rare congenital vascular pathology.

In this overview of vascular changes of the liver, variations in the liver vessels are discussed, in addition to congenital malformations such as Abernethy malformation, patent ductus venosus Arantii and hereditary hemorrhagic telangiectasia (OslerWeber-Rendu disease). Particular attention is paid to focal liver lesions, especially focal nodular hyperplasia (FNH), but also other solid tumours that develop as a result of altered liver vascularisation. The article focuses on the ultrasonic appearances and changes of the liver, depicted in B-mode sonography, Doppler studies and in contrast-enhanced ultrasonography (CEUS).

Over 30 Years of Pediatric Liver Transplantation at the Charité-Universitätsmedizin Berlin.

Background: Pediatric liver transplantation (LT) is the treatment of choice for children with end-stage liver disease and in certain cases of hepatic malignancies. Due to low case numbers, a technically demanding procedure, the need for highly specialized perioperative intensive care, and immunological, as well as infectious, challenges, the highest level of interdisciplinary cooperation is required. The aim of our study was to analyze short- and long-term outcomes of pediatric LT in our center.

Feasibility of percutaneous endoscopic gastrostomy insertion in children receiving peritoneal dialysis.

Background: Peritoneal dialysis (PD) is the preferred dialysis modality for paediatric patients with end-stage kidney disease. Frequently, malnutrition is encountered. Percutaneous endoscopic gastrostomy (PEG) is the preferred mode of feeding because of its minimal invasive mode of placement and easy handling in daily life.

Hepatic artery reconstruction using an operating microscope in pediatric liver transplantation-Is it worth the effort?

Introduction: In pediatric liver transplantation (pLT), hepatic artery thrombosis (HAT) is associated with inferior transplant outcome. Hepatic artery reconstruction (HAR) using an operating microscope (OM) is considered to reduce the incidence of HAT.

Methods: HAR using an OM was compared to a historic cohort using surgical loupes (SL) in pLT performed between 2009 and 2020.

Regulation of the cytochrome P450 epoxyeicosanoid pathway is associated with distinct histologic features in pediatric non-alcoholic fatty liver disease.

Non-alcoholic fatty liver disease (NAFLD) is a significant health burden in obese children for which there is currently no specific therapy. Preclinical studies indicate that epoxyeicosanoids, a class of bioactive lipid mediators that are generated by cytochrome P450 (CYP) epoxygenases and inactivated by the soluble epoxide hydrolase (sEH), play a protective role in NAFLD. We performed a comprehensive lipidomics analysis using liver tissue and blood samples of 40 children with NAFLD.

Gene-Dose Effect of Gain-of-Function Mutations Determines Neutrophil Activation in Familial Mediterranean Fever.

Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever () gene. Disease severity depends on genotype and gene dose with most serious clinical courses observed in patients with M694V homozygosity. Neutrophils are thought to play an important role in the initiation and perpetuation of inflammatory processes in FMF, but little is known about the specific characteristics of these cells in FMF patients.

Outcome after pediatric liver transplantation for staged abdominal wall closure with use of biological mesh-Study with long-term follow-up.

Abdominal wall closure after pediatric liver transplantation (pLT) in infants may be hampered by graft-to-recipient size discrepancy. Herein, we describe the use of a porcine dermal collagen acellular graft (PDCG) as a biological mesh (BM) for abdominal wall closure in pLT recipients. Patients <2 years of age, who underwent pLT from 2011 to 2014, were analyzed, divided into definite abdominal wall closure with and without implantation of a BM.

Early Exchange Transfusion to Treat Neonates With Gestational Alloimmune Liver Disease: An 11-Year Cohort Study.

Objectives: Exchange transfusion (ET) and intravenous immunoglobulin are potentially life-saving treatment options in newborns with gestational alloimmune liver disease (GALD). Since 2008, early ET has been the standard of care for symptomatic neonates with suspected GALD in our unit. The present study's aim was to investigate the outcomes of this approach.

Single-Pass Albumin Dialysis in the Treatment of Children with Liver Failure.

Background And Aims: Acute and acute on chronic liver failure are life-threatening conditions, and bridging to transplantation is complicated by a paucity of suitable organs for children. While different modalities of extracorporeal liver support exist, their use in children is complicated by a large extracorporeal volume, and data on their use in children is limited. The aim of this analysis was to investigate the efficacy and safety of single-pass albumin dialysis (SPAD) in children with liver failure.

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia.

Tomoelastography for the Evaluation of Pediatric Nonalcoholic Fatty Liver Disease.

Objectives: Today, nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in children and adults alike. Yet, the noninvasive evaluation of disease severity remains a diagnostic challenge. In this study, we apply multifrequency magnetic resonance elastography (mMRE) for the quantification of liver steatosis and fibrosis in adolescents with NAFLD.

Genetic determinants of steatosis and fibrosis progression in paediatric non-alcoholic fatty liver disease.

Background And Aims: Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease in children and adolescents today. In comparison with adult disease, paediatric NAFLD may show a periportal localization, which is associated with advanced fibrosis. This study aimed to assess the role of genetic risk variants for histological disease pattern and severity in childhood NAFLD.

Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area.

Objectives: To describe characteristics of visceral leishmaniasis-associated hemophagocytic lymphohistiocytosis (HLH) with focus on diagnostic clues and pitfalls, including the frequency of central nervous system (CNS) involvement, and to determine the efficacy of liposomal amphotericin B (L-AmB).

Study Design: We retrospectively analyzed clinical and laboratory features, diagnostic procedures, and treatment of 13 patients with HLH with imported visceral leishmaniasis, reported to the German HLH reference center (1999-2012).

Results: The spectrum of presentations was indistinguishable from patients with hereditary HLH or with acquired HLH because of infections with other pathogens.

Respiratory alkalosis in children with febrile seizures.

Purpose: Febrile seizures (FS) are the most common type of convulsive events in children. FS are suggested to result from a combination of genetic and environmental factors. However, the pathophysiologic mechanisms underlying FS remain unclear.

[Review: common pediatric emergencies].

Pediatric emergencies are exceptional challenges for every emergency doctor. Referring to the complete spectrum of all emergencies the percentage of pediatric cases amounts 5-10%. In adulthood cardiovascular diseases represent the major cause for emergencies whereas in childhood respiratory disturbances and seizures prevail.

Task- and EEG-correlated analyses of BOLD MRI responses to eyes opening and closing.

Variations of a subject's vigilance may pose a severe confound during functional brain mapping. Here, we focused on BOLD MRI responses to eyes opening and closing in complete darkness and the associated changes in the EEG's alpha frequency band (Berger's effect) as a possible approach to this problem. In awake subjects, BOLD MRI activation patterns were positively correlated to eyes opening and negatively to alpha power.

Simultaneous recordings of visual evoked potentials and BOLD MRI activations in response to visual motion processing.

Visual motion processing in humans was studied by simultaneous 32-channel electroencephalography (EEG) recordings of visual evoked potentials and BOLD MRI activations at 2.9 T. The paradigms compared three different random dot patterns (12 s duration) with stationary random dots (18 s) or with each other.