Langerhans Cell Histiocytosis or Acute Cellular Rejection?

Background: Langerhans cell histiocytosis (LCH) is a rare malignant disorder of epidermal antigen presenting cells. It is characterized by infiltration of various tissues with dendritic cells (Langerhans cells, LC) that express CD1a or CD207 (langerin), often leading to organ dysfunction. A patient with LCH required liver transplantation (LT) for LCH-associated biliary-tract disease.

The influence of liver transplantation on the interplay between gut microbiome and bile acid homeostasis in children with biliary atresia.

Background: Biliary atresia (BA) causes neonatal cholestasis and rapidly progresses into cirrhosis if left untreated. Kasai portoenterostomy may delay cirrhosis. BA remains among the most common indications for liver transplantation (LT) during childhood.

Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation.

Background: Progressive Familial Intrahepatic cholestasis type I (PFIC1) is a rare congenital hepatopathy causing cholestasis with progressive liver disease. Surgical interruption of the enterohepatic circulation, e.g.

New Therapeutic Approach in an Infant With Systemic Myofibromatosis and Intestinal Hemorrhage.

We report the case of an infant with multicentric myofibromatosis affecting the gastric and intestinal mucosa, leading to continuous intestinal hemorrhage and iron deficiency. Conventional vinblastine and methotrexate combination treatment was administered for 4 months, but persistent intestinal blood loss required repeated blood transfusions. Because of insufficient tumor response to treatment, we opted for the experimental combination of rapamycin and dasatinib.

Influence of early biliary complications on survival rates after pediatric liver transplantation-A positive outlook.

Background: Early biliary complications (EBC) constitute a burden after pediatric liver transplantation frequently requiring immediate therapy. We aimed to assess the impact of EBC on short- and long-term patient and graft survival as well as post-transplant morbidity.

Methods: We analyzed 121 pediatric liver transplantations performed between 1984 and 2019 at the Medical University of Innsbruck for the occurrence of early (<90 days) biliary complications and investigated the influence of EBC on patient and graft survival.

Method comparison of HPLC-ninhydrin-photometry and UHPLC-PITC-tandem mass spectrometry for serum amino acid analyses in patients with complex congenital heart disease and controls.

Introduction: Metabolomics studies are not routine when quantifying amino acids (AA) in congenital heart disease (CHD).

Objectives: Comparative analysis of 24 AA in serum by traditional high-performance liquid chromatography (HPLC) based on ion exchange and ninhydrin derivatisation followed by photometry (PM) with ultra-high-performance liquid chromatography and phenylisothiocyanate derivatisation followed by tandem mass spectrometry (TMS); interpretation of findings in CHD patients and controls.

Methods: PM: Sample analysis as above (total run time, ~ 119 min).

Stereotactic radiofrequency ablation of a variety of liver masses in children.

Background And Aims: Surgical resection is currently the cornerstone of liver tumor treatment in children. In adults radiofrequency ablation (RFA) is an established minimally invasive treatment option for small focal liver tumors. Multiprobe stereotactic RFA (SRFA) with intraoperative image fusion to confirm ablation margins allows treatment for large lesions.

Targeted metabolomic analysis of serum amino acids in the adult Fontan patient with a dominant left ventricle.

Growing interest lies in the assessment of the metabolic status of patients with a univentricular circulation after Fontan operation, especially in changes of amino acid metabolism. Using targeted metabolomic examinations, we investigated amino acid metabolism in a homogeneous adult Fontan-patient group with a dominant left ventricle, seeking biomarker patterns that might permit better understanding of Fontan pathophysiology and early detection of subtle ventricular or circulatory dysfunction. We compared serum amino acid levels (42 analytes; AbsoluteIDQ p180 kit, Biocrates Life Sciences, Innsbruck, Austria) in 20 adult Fontan patients with a dominant left ventricle and those in age- and sex-matched biventricular controls.

Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle.

Background: Patients with a Fontan circulation have altered cholesterol and lipoprotein values. We analysed small organic molecules in extended phopsholipid and acylcarnitine metabolic pathways ('metabolomes') in adult Fontan patients with a dominant left ventricle, seeking differences between profiles in baseline and Fontan circulations.

Methods: In an observational matched cross-sectional study, we compared phosphatidylcholine (PC), sphingomyelin (SM), and acylcarnitine metabolomes (105 analytes; AbsoluteIDQ p180 kit (Biocrates Life Sciences AG, Innsbruck, Austria) in 20 adult Fontan patients having a dominant left ventricle with those in 20 age- and sex-matched healthy controls.

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.

A boy exhibiting conjugated hyperbilirubinemia from birth, with elevated serum gamma-glutamyl transpeptidase activity (GGT), developed liver failure unusually early (7mo); GGT concomitantly normalized. ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABCB11 variant c.

Left ventricular mass estimation by real-time 3D echocardiography favourably competes with CMR in congenital left ventricular disease.

Assessment of left ventricular mass (LVM) is important in the evaluation of patients with congenital heart disease (CHD) and cardiac magnetic resonance imaging (CMR) is the gold standard. Recent software allows LVM calculation by real-time 3-dimensional echocardiography (RT3DE). We investigated the impact of different software analysis tools on LVM determination by CMR or RT3DE in a cohort of patients with heterogeneous left ventricular (LV) disease.

The dilemma to diagnose Wilson disease by genetic testing alone.

Background: Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About sixty per cent of patients present with liver disease. WD is considered a fatal disease if undiagnosed and/or untreated but recent data indicate that disease penetrance may not be 100%.

Vaccination Status in Pediatric Solid-Organ Transplant Recipients and Their Household Members.

Objectives: Vaccine-preventable diseases remain a major cause of morbidity and mortality in solid-organ transplant candidates and recipients. Newer recommendations include vaccination of all household members to create a herd immunity around the transplant recipient. This study evaluated the vaccination status of pediatric solid-organ transplant recipients and their household members.

Impact of the Fontan Operation on Organ Systems.

In patients having undergone the Fontan operation, besides the well discussed changes in the cardiac, pulmonary and gastrointestinal system, alterations of further organ systems including the hematologic, immunologic, endocrinological and metabolic are reported. As a medical adjunct to Fontan surgery, the systematic study of the central role of the liver as a metabolizing and synthesizing organ should allow for a better understanding of the pathomechanism underlying the typical problems in Fontan patients, and in this context, the profiling of endocrinological and metabolic patterns might offer a tool for the optimization of Fontan follow-up, targeted monitoring and specific adjunct treatment.

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged 6 months, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.

Inflammatory and coagulatory parameters linked to survival in critically ill children with sepsis.

Background: Sepsis is associated with a deflection of inflammatory and coagulative parameters, since some clotting factors are known to be involved in the host's defense against infection and inflammation. These parameters could play a crucial role in the course of sepsis and be used as prognostic markers in critically ill children.

Methods: A total of 250 critically ill pediatric patients diagnosed with sepsis were retrospectively analyzed to identify routinely measured predictors for in-hospital mortality at the peak level of C-reactive protein.

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

The syndromic form of congenital sodium diarrhea (SCSD) is caused by bi-allelic mutations in SPINT2, which encodes a Kunitz-type serine protease inhibitor (HAI-2). We report three novel SCSD patients, two novel SPINT2 mutations and review published cases. The most common findings in SCSD patients were choanal atresia (20/34) and keratitis of infantile onset (26/34).

Vedolizumab use after failure of TNF-α antagonists in children and adolescents with inflammatory bowel disease.

Background: Vedolizumab is safe and effective in adult patients with Crohn's disease (CD) and ulcerative colitis (UC); however, data in children with inflammatory bowel disease (IBD) are scarce. Therefore, we evaluated vedolizumab use in a cohort of Austrian paediatric patients with IBD.

Methods: Twelve patients (7 female; 7 CD; 5 UC), aged 8-17 years (median, 15 years), with severe IBD who received vedolizumab after tumour necrosis factor α antagonist treatment were retrospectively analysed.

Combination therapy of omega-3 fatty acids and acipimox for children with hypertriglyceridemia and acute lymphoblastic leukemia.

Background: Lipemic alterations are commonly seen in pediatric patients with acute lymphoblastic leukemia (ALL) treated with corticosteroids and L-asparaginase.

Objective: In these children, hypertriglyceridemia rarely causes symptoms and mostly responds well to a low-fat diet. Only few patients demand further therapy, which is not clearly approved in the literature to date.

The transverse four-chamber view for the assessment of atrial tissue deformation in the fetus.

Aims: To determine if atrial tissue deformation (peak strain, PS) and time to peak strain (TTPS) can be assessed in the fetus, with identification of best echocardiographic plane.

Materials And Methods: Pulsed-wave tissue Doppler study of a longitudinal and a transverse four-chamber view (FCV) in each of 20 healthy fetuses. Determination of PS and TTPS in regions of interest (ROI), viz.

Standardized training for AVT pacing in paediatric patients with postoperative junctional ectopic tachycardia.

Background: Junctional ectopic tachycardia is a serious complication of surgery for paediatric congenital heart disease. R-wave synchronized atrial (AVT) pacing, an innovative temporary pacing technique, restores atrioventricular synchrony in these patients. The method is highly effective but technically complex.

R-wave synchronised atrial pacing in pediatric patients with postoperative junctional ectopic tachycardia: the atrioventricular interval investigated by computational analysis and clinical evaluation.

Background: R-wave synchronised atrial pacing is an effective temporary pacing therapy in infants with postoperative junctional ectopic tachycardia. In the technique currently used, adverse short or long intervals between atrial pacing and ventricular sensing (AP-VS) may be observed during routine clinical practice.

Objectives: The aim of the study was to analyse outcomes of R-wave synchronised atrial pacing and the relationship between maximum tracking rates and AP-VS intervals.

Management of postoperative junctional ectopic tachycardia in pediatric patients: a survey of 30 centers in Germany, Austria, and Switzerland.

Unlabelled: Postoperative junctional ectopic tachycardia (JET) is a frequent complication after pediatric cardiac surgery. Current recommendations on how and when to treat JET are inconsistent. We evaluated the management strategies of postoperative JET in German-speaking countries.

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome (CNS) diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing, two homozygous truncating mutations, c.1513C>T (p.