Ulrike Herberg - Profile on Academia.edu (original) (raw)

Papers by Ulrike Herberg

Teamtraining für pädiatrische Notfälle - ein Ausbildungskonzept auch für Medizinstudenten

Fragestellung: Die Reanimation im Kindesalter stellt eine besondere Herausforderung an Ärzte und ... more Fragestellung: Die Reanimation im Kindesalter stellt eine besondere Herausforderung an Ärzte und Pflegekräfte dar. Die Leitlinien des European Resuscitation Council von 2005 bieten allgemeingültige und gut verständliche Algorithmen zur Wiederbelebung im Kindesalter an. Leider mangelt[for full text, please go to the a.m. URL]

Pressure-Volume Relations in Patients with Single Ventricle: Feasibility and Comparison of Obtainment by 3D-Real Time Echocardiography and Mini Pressure-Wire with Conductance Technology

50th Annual Meeting of the German Society for Pediatric Cardiology (DGPK), 2018

Data-Driven Decision Support for the Diagnosis and Prognosis of Critical Heart Failures Based on 3D Echocardiography Data

The Thoracic and Cardiovascular Surgeon, 2017

Probleme der Volumenmessungen fetaler Ventrikel mittels 2D- und 3D-Echokardiographie

Ultraschall in der Medizin - European Journal of Ultrasound, 2006

Fetale dreidimensionale Echokardiographie – Live-3D im Vergleich zur 3D-Rekonstruktion

Ultraschall in der Medizin - European Journal of Ultrasound, 2004

Validation of Pressure Volume Relations Derived from 3D Real-Time Echocardiography and Mini Pressure Wire in Piglets

The Thoracic and Cardiovascular Surgeon, 2015

Background: Pressure-volume relations (PVR) provide vital information regarding ventricular perfo... more Background: Pressure-volume relations (PVR) provide vital information regarding ventricular performance and cardiac pathophysiology. However, in children acquisition of PVR by conductance-technology is - due to catheter size and invasiveness - restricted to an older age. Objectives: The aim of the study was to validate the accuracy of minimal invasive assessment of PVR in small hearts using volume data obtained by real-time three-dimensional echocardiography (3D) and simultaneously acquired pressure data. Methods: In 17 piglets (mean weight:5 0.9 ± 1.3 [range 3.6–8.0] kg) left ventricular PVR were generated by 3D in conjunction with simultaneously recording of left ventricular pressure using a mini pressure wire (PVR3D). PVR3D were compared with conductance catheter measurements (PVRCond) under various hemodynamic conditions: baseline, adrenergic stimulation (phenylephrine) and β-adrenoreceptor blockage (esmolol). In another 8 pigles, the accuracy of 3D volumetric data including volume changes over time was validated by cardiac magnetic resonance imaging (CMR) . Results: Computation of PVR3D was feasible, reproducible and comparable to results obtained by conductance technology . Bland-Altman analysis showed a low bias between PVR3D and PVRCond for systolic (systolic myocardial elastance, arterial elastance dp/dtmax) and diastolic parameters (Tau, enddiastolic PVR, dp/dtmin). The dynamic changes under different hemodynamics conditions correlated well between the two methods (Fig. 1). Comparision of CMR and 3DE revealed excellent correlation (r = 0.8829). Inter- and intraobserver- coefficients of variation were below 5% for all parameters . Conclusions: 3D echocardiography generated PVR represent a novel, feasible and reliable method to assess different conditions of cardiac function in small hearts. Due to its minimal invasive character this methodology may be implemented into daily practice and contribute to clinical decision making in this crucial age group.

Additional file 5: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Figure S1. Representative picture of Complex I assembly in fibroblasts of individual 1 (A, upper ... more Figure S1. Representative picture of Complex I assembly in fibroblasts of individual 1 (A, upper panels) Two-dimensional BN/SDS-PAGE separation and quantification of fluorescent-labelled mitochondrial complexes from 10 mg patient (left) and control fibroblasts (right) are shown. (A, lower panels) show silver stained 2 D gels. (B) Quantified Supercomplexes in 2D gels from control and patient fibroblast with and without bezafibrate treatment for 72 h. (C) Panoramaplots of 2D gels with assignment of signals used for quantification of complexes. Assignment of complexes: O, OGDC, oxoglutarate dehydrogenase complex; V, complex V or ATP synthase; III, complex III or cytochrome c reductase; IV, complex IV or cytochrome c oxidase; S, supercomplexes composed of respiratory chain complexes I, III, and IV. 2-D gels were scanned side by side for direct comparison and are shown as pseudocolors. (pdf). (PDF 1109 kb)

Additional file 3: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Table S2. Calculation of European incidence of ACAD9 deficiency (DOCX 36Â kb)

Additional file 2: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Table S1. Compound heterozygous and homozygous ACAD9 variants identified in 67 patients present i... more Table S1. Compound heterozygous and homozygous ACAD9 variants identified in 67 patients present in this study (DOCX 75Â kb)

Additional file 1: of Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Additional data. (DOCX 38Â kb)

Journal of Medical Genetics, 2012

Background Next generation sequencing has become the core technology for gene discovery in rare i... more Background Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, the interpretation of the numerous sequence variants identified remains challenging. We assessed the application of exome sequencing for diagnostics in complex I deficiency, a disease with vast genetic heterogeneity. Methods Ten unrelated individuals with complex I deficiency were selected for exome sequencing and sequential bioinformatic filtering. Cellular rescue experiments were performed to verify pathogenicity of novel disease alleles. Results The first filter criterion was 'Presence of known pathogenic complex I deficiency variants'. This revealed homozygous mutations in NDUFS3 and ACAD9 in two individuals. A second criterion was 'Presence of two novel potentially pathogenic variants in a structural gene of complex I', which discovered rare variants in NDUFS8 in two unrelated individuals and in NDUFB3 in a third. Expression of wild-type cDNA in mutant cell lines rescued complex I activity and assembly, thus providing a functional validation of their pathogenicity. Using the third criterion 'Presence of two potentially pathogenic variants in a gene encoding a mitochondrial protein', loss-of-function mutations in MTFMT were discovered in two patients. In three patients the molecular genetic correlate remained unclear and follow-up analysis is ongoing. Conclusion Appropriate in silico filtering of exome sequencing data, coupled with functional validation of new disease alleles, is effective in rapidly identifying disease-causative variants in known and new complex I associated disease genes.

Pränatale Detektion einer isolierten gigantischen Koronarfistel – ein Fallbericht

Abstracts zum 19. Kongress der Deutschen Gesellschaft für Pränatal- und Geburtsmedizin e. V., 2020

Atrioventricular Coupling in Infants and Children Assessed by Three-Dimensional Echocardiography

Journal of the American Society of Echocardiography

Cardiovascular Engineering and Technology, 2021

Purpose Patients with a functionally univentricular heart represent one of the most common severe... more Purpose Patients with a functionally univentricular heart represent one of the most common severe cardiac lesions with a prevalence of 3 per 10,000 live births. Hemodynamics of the singular ventricle is a major research topic in cardiology and there exists a relationship between fluid dynamical features and cardiac behavior in health and disease. The aim of the present work was to compare intraventricular flow in single right ventricle (SRV) patients and subjects with healthy left hearts (LV) through patient-specific CFD simulations. Methods Three-dimensional real-time echocardiographic images were obtained for five SRV patients and two healthy subjects and CFD simulations with a moving mesh methodology were performed. Intraventricular vortex formation and vortex formation time (VFT) as well as the turbulent kinetic energy (TKE) and ventricular washout were evaluated. Results The results show significantly lower values for the VFT and the TKE in SRV patients compared with healthy LV...

Archives of Disease in Childhood, 1993

Ten haemophilia centres in northern Europe have pooled data on 202 haemophilic children who were ... more Ten haemophilia centres in northern Europe have pooled data on 202 haemophilic children who were infected with HIV between 1979 and 1986. All cases were under 16 years of age on 1 July 1985. The age at infection ranged from 1-15 years. Thirty seven cases (18%) had progressed to AIDS by 1 July 1991 and 15 of these have died. Persistent generalised lymphadenopathy has been noted in 102 patients of whom 18 (17%) have developed AIDS. Twenty three of the remaining patients (23%) have not. CD4+ T cell counts have fallen steadily. Of 36 patients who have had shingles since seroconversion, 19 (53%) had counts below 0 2x 109/1. Thirty five out of 145 patients with- out shingles (24%) had similar values. The mean IgA concentration in patients with CD4+ T cell counts above 0-5x109/l was 2-38

Journal of Clinical Medicine, 2022

Scimitar syndrome is a rare disease characterized by hypoplasia of the right lung and partial ano... more Scimitar syndrome is a rare disease characterized by hypoplasia of the right lung and partial anomalous pulmonary venous drainage to the inferior vena cava. All cases with a prenatal diagnosis of scimitar syndrome with or without associated malformations in an 18-year period (2000–2018) in two large tertiary referral centers (University of Bonn and University of Cologne, Germany) were retrospectively reviewed for the intrauterine course and postnatal outcome. Six cases were diagnosed in the study period. All presented with hypoplasia of the right lung, right-sided mediastinal shift, and abnormal pulmonary venous drainage to the inferior vena cava. Systemic arterial blood supply to the right lung, albeit postnatally present in all cases, could not be detected prenatally. Major associated anomalies were present in all cases and included atrial septal defect (n = 5), coarctation (n = 3), diaphragmatic hernia (n = 2), and VACTERL association (n = 1). Half of the cohort died within 6 mon...

9 Fetale Interventionen bei kritischer Aortenstenose, hypoplastischem Linksherzsyndrom und Pulmonalatresie mit intaktem Ventrikelseptum

Fetale Therapie, 2017

Software Impacts, 2020

In medicine, reference curves serve as an important tool for everyday clinical practice. Pediatri... more In medicine, reference curves serve as an important tool for everyday clinical practice. Pediatricians assess the growth process of children with the help of percentile curves serving as norm references. The mathematical methods for the construction of these reference curves are sophisticated and often require technical knowledge beyond the scope of physicians. An easy-to-use software for life scientists and physicians is missing. As a consequence, most medical publications do not document the construction properly. This project aims to develop a software that enables non-technical users to apply modern statistical methods to create and analyze reference curves. In this paper, we present RefCurv, a software that facilitates the construction of reference curves. The software comprises functionalities to select and visualize data. Users can fit models to the data and graphically present them as percentile curves. Furthermore, the software provides features to highlight possible outliers, perform model selection, and analyze the sensitivity. RefCurv is an open-source software with a graphical user interface (GUI) written in Python. It uses R and the gamlss add-on package (Rigby and Stasinopoulos ( )) as the underlying statistical engine. RefCurv simplifies the process to create percentile curves with a broad set of data processing features. The tool can help to standardize the procedure and plan the acquisition of data. An exemplary analysis of the robustness for the underlying statistical methods is shown in case scenarios. Also, a method to design studies concerning the required sample size and the model setting is demonstrated. In summary, RefCurv is the first software based on the gamlss package, which enables practitioners to construct and analyze reference curves in a user-friendly GUI. In broader terms, the software brings together the fields of statistical learning and medical application. Consequently, RefCurv can help to establish the construction of reference curves in other medical fields.

Case Report - Intrauterine Aortenklappensprengung und atriale Stenteinlage bei kritischer fetaler Aortenklappenstenose mit intaktem interatrialem Septum

Zeitschrift für Geburtshilfe und Neonatologie, 2012