Publications

468 Publications visible to you, out of a total of 468

Abstract (Expand)

Feeding cancer registries with data extracted from textual reports, while maintaining a high level of data quality, has always been a labour-intensive task, due to the heterogeneity of the sources. The support of this task by IT solutions is expected to accelerate and optimise this process. To this end, the commercial text mining system Averbis Health Discovery was tailored to extract information from free text at the cancer registry of the federal state of Baden-Württemberg. The following entity types were extracted from German-language pathology reports: tumour localisation and morphology, pTNM, grading, (sentinel) nodes examined and affected, laterality and R-class. According to the entity type, several machine learning approaches as well as rules were used for the tumour types breast, prostate, colorectal and skin. Whereas for the pilot site, F values ranged between 0.800 and 0.996, values dropped when applying the extraction pipeline to two new sites (cancer registries Rhineland-Palatinate and Lower Saxony), for morphology from 0.950 to 0.657 and 0.933, and for localisation (topography) from 0.902 to 0.675 and 0.768. There was much less difference with R-class and lymph node counts. A thorough error analysis revealed numerous issues that explain these differences, such as different workflows between the sites, disagreements between textual and coded content as well as different handlings of missing values.

Authors: Stefan Schulz, Sonja Fix, Peter Klügl, Tamira Bachmayer, Tobias Hartz, Martin Richter, Nils Herm-Stapelberg, Philipp Daumke

Date Published: 2021

Publication Type: Journal article

Abstract (Expand)

Acute Respiratory Distress Syndrome (ARDS) is a common cause for respiratory failure and has a high mortality rate of 30-40% in most studies. The current standard for the diagnosis of ARDS was proposed by the Berlin Definition from 2012. This article proposes an algorithmic classification to distinguish between patients with ARDS and those with heart failure (HF). Currently, the available database is not sufficient in regards to the necessary data quality to evaluate this classification. Therefore an approach of simulating data for patients with ARDS and HF by using a computer model was implemented. The model and classification are evaluated using selected patient data, which is recorded with medical embedded systems in intensive care units, as an input for the simulation. The included scores provide a retrospective assessment of whether or not a patient has developed an ARDS.

Authors: Simon Fonck, Sebastian Fritsch, Stefan Kowalewski, Raimund Hensen, André Stollenwerk

Date Published: 2021

Publication Type: Journal article

Abstract (Expand)

BACKGROUND The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effectt but may be substantially biased. Prospective studies have had limited power, particularly for BRCA2 mutation carriers. Further, previous studies have not considered the effect of RRSO in the context of natural menopause. METHODS A multi-centre prospective cohort of 2272 BRCA1 and 1605 BRCA2 mutation carriers was followed for a mean of 5.4 and 4.9 years, respectively; 426 women developed incident breast cancer. RRSO was modelled as a time-dependent covariate in Cox regression, and its effect assessed in premenopausal and postmenopausal women. RESULTS There was no association between RRSO and breast cancer for BRCA1 (HR = 1.23; 95% CI 0.94-1.61) or BRCA2 (HR = 0.88; 95% CI 0.62-1.24) mutation carriers. For BRCA2 mutation carriers, HRs were 0.68 (95% CI 0.40-1.15) and 1.07 (95% CI 0.69-1.64) for RRSO carried out before or after age 45 years, respectively. The HR for BRCA2 mutation carriers decreased with increasing time since RRSO (HR = 0.51; 95% CI 0.26-0.99 for 5 years or longer after RRSO). Estimates for premenopausal women were similar. CONCLUSION We found no evidence that RRSO reduces breast cancer risk for BRCA1 mutation carriers. A potentially beneficial effect for BRCA2 mutation carriers was observed, particularly after 5 years following RRSO. These results may inform counselling and management of carriers with respect to RRSO.

Authors: Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton

Date Published: 1st Dec 2020

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Abstract

After publication of the original article [1], we were notified that columns in Table 2 were erroneously displayed.

Authors: Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton

Date Published: 1st Dec 2020

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Abstract (Expand)

Background The use of mobile devices in hospital care constantly increases. However, smartphones and tablets have not yet widely become official working equipment in medical care. Meanwhile, the parallel use of private and official devices in hospitals is common. Medical staff use smartphones and tablets in a growing number of ways. This mixture of devices and how they can be used is a challenge to persons in charge of defining strategies and rules for the usage of mobile devices in hospital care. Objective Therefore, we aimed to examine the status quo of physicians’ mobile device usage and concrete requirements and their future expectations of how mobile devices can be used. Methods We performed a web-based survey among physicians in 8 German university hospitals from June to October 2019. The online survey was forwarded by hospital management personnel to physicians from all departments involved in patient care at the local sites. Results A total of 303 physicians from almost all medical fields and work experience levels completed the web-based survey. The majority regarded a tablet (211/303, 69.6%) and a smartphone (177/303, 58.4%) as the ideal devices for their operational area. In practice, physicians are still predominantly using desktop computers during their worktime (mean percentage of worktime spent on a desktop computer: 56.8%; smartphone: 12.8%; tablet: 3.6%). Today, physicians use mobile devices for basic tasks such as oral (171/303, 56.4%) and written (118/303, 38.9%) communication and to look up dosages, diagnoses, and guidelines (194/303, 64.0%). Respondents are also willing to use mobile devices for more advanced applications such as an early warning system (224/303, 73.9%) and mobile electronic health records (211/303, 69.6%). We found a significant association between the technical affinity and the preference of device in medical care (\chis2=53.84, P Conclusions Physicians in German university hospitals have a high technical affinity and positive attitude toward the widespread implementation of mobile devices in clinical care. They are willing to use official mobile devices in clinical practice for basic and advanced mobile health uses. Thus, the reason for the low usage is not a lack of willingness of the potential users. Challenges that hinder the wider adoption of mobile devices might be regulatory, financial and organizational issues, and missing interoperability standards of clinical information systems, but also a shortage of areas of application in which workflows are adapted for (small) mobile devices.

Authors: Oliver Maassen, Sebastian Fritsch, Julia Gantner, Saskia Deffge, Julian Kunze, Gernot Marx, Johannes Bickenbach

Date Published: 1st Dec 2020

Publication Type: Journal article

Abstract (Expand)

BACKGROUND: The successful determination and analysis of phenotypes plays a key role in the diagnostic process, the evaluation of risk factors and the recruitment of participants for clinical and epidemiological studies. The development of computable phenotype algorithms to solve these tasks is a challenging problem, caused by various reasons. Firstly, the term ’phenotype’ has no generally agreed definition and its meaning depends on context. Secondly, the phenotypes are most commonly specified as non-computable descriptive documents. Recent attempts have shown that ontologies are a suitable way to handle phenotypes and that they can support clinical research and decision making. The SMITH Consortium is dedicated to rapidly establish an integrative medical informatics framework to provide physicians with the best available data and knowledge and enable innovative use of healthcare data for research and treatment optimisation. In the context of a methodological use case ’phenotype pipeline’ (PheP), a technology to automatically generate phenotype classifications and annotations based on electronic health records (EHR) is developed. A large series of phenotype algorithms will be implemented. This implies that for each algorithm a classification scheme and its input variables have to be defined. Furthermore, a phenotype engine is required to evaluate and execute developed algorithms. RESULTS: In this article, we present a Core Ontology of Phenotypes (COP) and the software Phenotype Manager (PhenoMan), which implements a novel ontology-based method to model, classify and compute phenotypes from already available data. Our solution includes an enhanced iterative reasoning process combining classification tasks with mathematical calculations at runtime. The ontology as well as the reasoning method were successfully evaluated with selected phenotypes including SOFA score, socio-economic status, body surface area and WHO BMI classification based on available medical data. CONCLUSIONS: We developed a novel ontology-based method to model phenotypes of living beings with the aim of automated phenotype reasoning based on available data. This new approach can be used in clinical context, e.g., for supporting the diagnostic process, evaluating risk factors, and recruiting appropriate participants for clinical and epidemiological studies.

Authors: Alexandr Uciteli, Christoph Beger, Toralf Kirsten, Frank A Meineke, Heinrich Herre

Date Published: 1st Dec 2020

Publication Type: Journal article

Abstract (Expand)

Aryl hydrocarbon receptor (AHR) activation by tryptophan (Trp) catabolites enhances tumor malignancy and suppresses anti-tumor immunity. The context specificity of AHR target genes has so far impeded systematic investigation of AHR activity and its upstream enzymes across human cancers. A pan-tissue AHR signature, derived by natural language processing, revealed that across 32 tumor entities, interleukin-4-induced-1 (IL4I1) associates more frequently with AHR activity than IDO1 or TDO2, hitherto recognized as the main Trp-catabolic enzymes. IL4I1 activates the AHR through the generation of indole metabolites and kynurenic acid. It associates with reduced survival in glioma patients, promotes cancer cell motility, and suppresses adaptive immunity, thereby enhancing the progression of chronic lymphocytic leukemia (CLL) in mice. Immune checkpoint blockade (ICB) induces IDO1 and IL4I1. As IDO1 inhibitors do not block IL4I1, IL4I1 may explain the failure of clinical studies combining ICB with IDO1 inhibition. Taken together, IL4I1 blockade opens new avenues for cancer therapy.

Authors: Ahmed Sadik, Luis F Somarribas Patterson, Selcen Öztürk, Soumya R Mohapatra, Verena Panitz, Philipp F Secker, Pauline Pfänder, Stefanie Loth, Heba Salem, Mirja Tamara Prentzell, Bianca Berdel, Murat Iskar, Erik Faessler, Friederike Reuter, Isabelle Kirst, Verena Kalter, Kathrin I Foerster, Evelyn Jäger, Carina Ramallo Guevara, Mansour Sobeh, Thomas Hielscher, Gernot Poschet, Annekathrin Reinhardt, Jessica C Hassel, Marc Zapatka, Udo Hahn, Andreas von Deimling, Carsten Hopf, Rita Schlichting, Beate I Escher, Jürgen Burhenne, Walter E Haefeli, Naveed Ishaque, Alexander Böhme, Sascha Schäuble, Kathrin Thedieck, Saskia Trump, Martina Seiffert, Christiane A Opitz

Date Published: 1st Sep 2020

Publication Type: Journal article

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