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468 Publications visible to you, out of a total of 468
The SNIK Graph: Visualization of a Medical Informatics Ontology
Management of health information systems

Abstract

Not specified

Authors: Franziska Jahn, Konrad Höffner, Birgit Schneider, Anna Lörke, Thomas Pause, Elske Ammenwerth, Alfred Winter

Date Published: 2019

Publication Type: InCollection

An Ontology for Describing Health IT Interventions: Methodological Considerations
Management of health information systems

Abstract

Not specified

Authors: Elske Ammenwerth, Verena Dornauer, Maryam Ghalandari, Franziska Jahn, Nicolette de Keizer

Date Published: 2019

Publication Type: InCollection

Towards Customer-Induced Service Orchestration: Requirements for the Next Step of Customer Orientation
Management of health information systems

Abstract

Not specified

Authors: Rainer Alt, Jan Fabian Ehmke, Alfred Winter, et al.

Date Published: 2019

Publication Type: Journal article

Modeling a graph data model for FHIR resources
SMITH - Smart Medical Information Technology for Healthcare

Abstract (Expand)

Introduction: (Fast Healthcare Interoperability Resources) is a modern standard for communication and representation of clinical data, where each dataset is defined by a single resource, linked to other … resources [ref:1]. But FHIR\textregistered does explicitely not define how to persist these resources[for full text, please go to the a.m. URL]

Authors: Henner M Kruse, Alexander Helhorn, Lo An Phan-Vogtmann, Eric Thomas, Andrew J Heidel, Kutaiba Saleh, André Scherag, Danny Ammon

Date Published: 2019

Publication Type: Misc

Approaching Clinical Data Transformation from Disparate Healthcare IT Systems Through a Modular Framework.
SMITH - Smart Medical Information Technology for Healthcare

Abstract (Expand)

Many healthcare IT systems in Germany are unable to interoperate with other systems through standardised data formats. Therefore it is difficult to store and retrieve data and to establish a systematic … collection of data with provenance across systems and even healthcare institutions. We outline the concept for a Transformation Pipeline that can act as a processor for proprietary medical data formats from multiple sources. Through a modular construction, the pipeline relies on different data extraction and data enrichment modules as well as on interfaces to external definitions for interoperability standards. The developed solution is extendable and reusable, enabling data transformation independent from current format definitions and entailing the opportunity of collaboration with other research groups.

Authors: Lo An Phan-Vogtmann, Alexander Helhorn, Henner M. Kruse, Eric Thomas, Andrew J. Heidel, Kutaiba Saleh, F. Rissner, Martin Specht, Andreas Henkel, André Scherag 

Date Published: 2019

Publication Type: Journal article

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Germline mutations in the BRIP1 gene have been described as conferring a moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) pathogenesis remains controversial. …. METHODS To assess the role of deleterious BRIP1 germline mutations in BC/OC predisposition, 6341 well-characterized index patients with BC, 706 index patients with OC, and 2189 geographically matched female controls were screened for loss-of-function (LoF) mutations and potentially damaging missense variants. All index patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germline testing and tested negative for pathogenic BRCA1/2 variants. RESULTS BRIP1 LoF mutations confer a high OC risk in familial index patients (odds ratio (OR) = 20.97, 95% confidence interval (CI) = 12.02-36.57, P \textless 0.0001) and in the subgroup of index patients with late-onset OC (OR = 29.91, 95% CI = 14.99-59.66, P \textless 0.0001). No significant association of BRIP1 LoF mutations with familial BC was observed (OR = 1.81 95% CI = 1.00-3.30, P = 0.0623). In the subgroup of familial BC index patients without a family history of OC there was also no apparent association (OR = 1.42, 95% CI = 0.70-2.90, P = 0.3030). In 1027 familial BC index patients with a family history of OC, the BRIP1 mutation prevalence was significantly higher than that observed in controls (OR = 3.59, 95% CI = 1.43-9.01; P = 0.0168). Based on the negative association between BRIP1 LoF mutations and familial BC in the absence of an OC family history, we conclude that the elevated mutation prevalence in the latter cohort was driven by the occurrence of OC in these families. Compared with controls, predicted damaging rare missense variants were significantly more prevalent in OC (P = 0.0014) but not in BC (P = 0.0693) patients. CONCLUSIONS To avoid ambiguous results, studies aimed at assessing the impact of candidate predisposition gene mutations on BC risk might differentiate between BC index patients with an OC family history and those without. In familial cases, we suggest that BRIP1 is a high-risk gene for late-onset OC but not a BC predisposition gene, though minor effects cannot be excluded.

Authors: Nana Weber-Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Britta Blümcke, Andrea Gehrig, Anne-Karin Kahlert, Clemens R. Müller, Karl Hackmann, Ellen Honisch, Konstantin Weber-Lassalle, Dieter Niederacher, Julika Borde, Holger Thiele, Corinna Ernst, Janine Altmüller, Guido Neidhardt, Peter Nürnberg, Kristina Klaschik, Christopher Schroeder, Konrad Platzer, Alexander E. Volk, Shan Wang-Gohrke, Walter Just, Bernd Auber, Christian Kubisch, Gunnar Schmidt, Judit Horvath, Barbara Wappenschmidt, Christoph Engel, Norbert Arnold, Bernd Dworniczak, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

Date Published: 1st Dec 2018

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The Li-Fraumeni cancer predisposition syndrome (LFS1) presents with a variety of tumor types and the TP53 gene is covered by most diagnostic cancer gene panels. We demonstrate that deleterious TP53 … variants identified in blood-derived DNA of 523 patients with ovarian cancer (AGO-TR1 trial) were not causal for the patients’ ovarian cancer in three out of six TP53-positive cases. In three out of six patients, deleterious TP53 mutations were identified with low variant fractions in blood-derived DNA but not in the tumor of the patient seeking advice. The analysis of the TP53 and PPM1D genes, both intimately involved in chemotherapy-induced and/or age-related clonal hematopoiesis (CH), in 523 patients and 1,053 age-matched female control individuals revealed that CH represents a frequent event following chemotherapy, affecting 26 of the 523 patients enrolled (5.0%). Considering that TP53 mutations may arise from chemotherapy-induced CH, our findings help to avoid false-positive genetic diagnoses of LFS1.

Authors: Konstantin Weber-Lassalle, Philipp Harter, Jan Hauke, Corinna Ernst, Stefan Kommoss, Frederik Marmé, Nana Weber-Lassalle, Katharina Prieske, Dimo Dietrich, Julika Borde, Esther Pohl-Rescigno, Alexander Reuss, Beyhan Ataseven, Christoph Engel, Julia C. Stingl, Rita K. Schmutzler, Eric Hahnen

Date Published: 1st Dec 2018

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

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