A5035084533- Congenital Heart Disease Studies
- Cardiovascular Function and Risk Factors
- Cardiac pacing and defibrillation studies
- Cardiac Arrhythmias and Treatments
- Atrial Fibrillation Management and Outcomes
- Cardiac Valve Diseases and Treatments
- Neonatal Respiratory Health Research
- Pulmonary Hypertension Research and Treatments
- Metabolomics and Mass Spectrometry Studies
- Rabbits: Nutrition, Reproduction, Health
- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- Cardiovascular Syncope and Autonomic Disorders
- Neuroscience of respiration and sleep
- Prenatal Screening and Diagnostics
- Advanced MRI Techniques and Applications
- Cerebral Venous Sinus Thrombosis
- Metabolism and Genetic Disorders
- Hemoglobinopathies and Related Disorders
- Pneumocystis jirovecii pneumonia detection and treatment
- Retinal Development and Disorders
- Infant Development and Preterm Care
- Pregnancy and Medication Impact
- Genetic and Kidney Cyst Diseases
- Tumors and Oncological Cases
Innsbruck Medical University
2015-2024
Universität Innsbruck
2016-2021
University of Lübeck
2004-2016
University Hospital Schleswig-Holstein
2004-2016
Kiel University
2009-2016
Asklepios Kliniken Hamburg
2013-2014
Universitäts Hautklinik Kiel
2012
Universitäres Kinderwunschzentrum Lübeck
2005
Bernstein Center for Computational Neuroscience Tübingen
1985
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome (CNS) diagnosed in first days life, hypogonadism, and prenatally detected adrenal calcifications, associated insufficiency one case. Using exome sequencing targeted Sanger sequencing, homozygous truncating mutations, c.1513C>T (p.Arg505*) c.934delC (p.Leu312Phefs*30), were SGPL1-encoding sphingosine-1-phosphate (S1P) lyase 1. SGPL1 catalyzes irreversible...
Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About sixty per cent patients present with liver disease. WD considered a fatal if undiagnosed and/or untreated but recent data indicate that penetrance may not be 100%.All underwent biopsy as part the diagnostic workup. Genetic testing for ATP7B was performed by Sanger sequencing.We report on large family multiple affected siblings. The first patient (male, 31 years) orthotopic transplantation (OLT) because...
Vedolizumab is safe and effective in adult patients with Crohn's disease (CD) ulcerative colitis (UC); however, data children inflammatory bowel (IBD) are scarce. Therefore, we evaluated vedolizumab use a cohort of Austrian paediatric IBD.Twelve (7 female; 7 CD; 5 UC), aged 8-17 years (median, 15 years), severe IBD who received after tumour necrosis factor α antagonist treatment were retrospectively analysed. Clinical activity scores, relevant laboratory parameters, auxological measures...
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 inflammation. These parameters could play crucial role course sepsis used as prognostic markers critically ill children. A total 250 pediatric patients diagnosed were retrospectively analyzed identify routinely measured predictors for in-hospital mortality at peak level C-reactive protein. Those entered multivariate...
Patients with a Fontan circulation have altered cholesterol and lipoprotein values. We analysed small organic molecules in extended phopsholipid acylcarnitine metabolic pathways ('metabolomes') adult patients dominant left ventricle, seeking differences between profiles baseline circulations.In an observational matched cross-sectional study, we compared phosphatidylcholine (PC), sphingomyelin (SM), metabolomes (105 analytes; AbsoluteIDQ® p180 kit (Biocrates Life Sciences AG, Innsbruck,...
ABSTRACT 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 mutations, which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged months, supporting link between DNA and tumorigenesis; liver transplantation proved beneficial regard to both tumor treatment psychomotor development.
Objectives: Junctional ectopic tachycardia is a frequent complication after pediatric cardiac surgery. A uniform definition of postoperative junctional has yet to be established in the literature. The objective this study analyze differences general and age-related prevalence according different diagnostic definitions. Design: Data files electrocardiograms 743 patients (age, 1 d 17.6 yr) who underwent surgery for congenital heart disease during 3-year period were reviewed. cohort was...
Background and aims Surgical resection is currently the cornerstone of liver tumor treatment in children. In adults radiofrequency ablation (RFA) an established minimally invasive option for small focal tumors. Multiprobe stereotactic RFA (SRFA) with intraoperative image fusion to confirm margins allows large lesions. We describe our experience SRFA children masses.Methods was performed 10 patients a median age 14 years (range 0.5–17.0 years) suffering from adenoma (n = 3), hepatocellular...
Lactose malabsorption (LM) is caused by insufficient enzymatic degradation of the disaccharide intestinal lactase. Although hydrogen (H2) breath tests (HBTs) are routinely applied to diagnose LM, false-negative results not uncommon. Thirty-two pediatric patients (19 females, 13 males) were included in this prospective study. After oral lactose administration (1 g kg(-1) bodyweight a maximum 25 g), H2 was measured electrochemical detection. HBT considered positive if concentration exceeded an...
ABSTRACT Background Langerhans cell histiocytosis (LCH) is a rare malignant disorder of epidermal antigen presenting cells. It characterized by infiltration various tissues with dendritic cells (Langerhans cells, LC) that express CD1a or CD207 (langerin), often leading to organ dysfunction. A patient LCH required liver transplantation (LT) for LCH‐associated biliary‐tract disease. Cholangiopathy developed after LT. The question arose: In this patient, did LC in damaged liver‐allograft...
Abstract Introduction Metabolomics studies are not routine when quantifying amino acids (AA) in congenital heart disease (CHD). Objectives Comparative analysis of 24 AA serum by traditional high-performance liquid chromatography (HPLC) based on ion exchange and ninhydrin derivatisation followed photometry ( PM ) with ultra-high-performance phenylisothiocyanate tandem mass spectrometry TMS ); interpretation findings CHD patients controls. Methods : Sample as above (total run time, ~ 119 min)....
Vaccine-preventable diseases remain a major cause of morbidity and mortality in solid-organ transplant candidates recipients. Newer recommendations include vaccination all household members to create herd immunity around the recipient. This study evaluated status pediatric recipients their members.We 30 (14 kidney, 13 liver, 3 heart) (26 siblings, parents) at time transplant.Fourteen (47%) received scheduled vaccinations before were up date for age with diphtheria, tetanus, pertussis;...
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 methods Pulsed-wave Doppler study a longitudinal transverse four-chamber view (FCV) each 20 healthy fetuses. Determination PS TTPS regions interest (ROI), viz., lateral walls right left atria (RA, LA); comparison values depending on section plane, results-based discussion physiology fetal possible clinical...
Postoperative junctional ectopic tachycardia (JET) occurs frequently after pediatric cardiac surgery. R-wave synchronized atrial (AVT) pacing is used to re-establish atrioventricular synchrony. AVT complex, with technical pitfalls. We sought establish and test a low-cost simulation model suitable for training analysis in pacing.A was developed based on JET simulator, doll, monitor, pacemaker. A computer program simulated electrocardiograms. Ten experienced cardiologists tested the model....
Schlüsselwörter pulmonale Infektion - multiresistenter Acinetobacter baumanii Weihwasser Übertragung
The determination of right ventricular volumes and function is increasing interest for the postoperative care patients with congenital heart defects. presentation volumetry data in terms volume-time curves allows a comprehensive functional assessment. By using manual contour tracing, generation exceedingly time-consuming.This study describes fast precise method determining ventricle outflow tract. applies detection includes feature identifying tract volume. segregation performed by...