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Harmonization of growth hormone measurements with different immunoassays by data adjustment
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND\backslashr\backslashnThe aim of our study was to evaluate the between-assay variability of commercially available immunoassays for the measurement of human growth hormone (hGH). In addition, … we asked whether the comparability of the diagnosis of childhood onset growth hormone deficiency could be improved by adjusting hGH results by statistical methods, such as linear regression, conversion factors, and quantile transformation.\backslashr\backslashnMETHODS\backslashr\backslashnIn archived sera from 312 children and adolescents (age: 17 days-17 years) hGH values between 0.01 and 16.5 ng/mL were determined by using the following immunoassays: AutoDELFIA (PerkinElmer), BC-IRMA (Beckman-Coulter), ELISA (Mediagnost), IMMULITE 2000 (Siemens), iSYS (IDS), Liaison (DiaSorin), UniCel DxI 800 Access (BeckmanCoulter) and {\textquotedblIn house{\textquotedbl-RIA (Tübingen).\backslashr\backslashnRESULTS\backslashr\backslashnThe assays differed in median hGH concentrations by as much as 5.44 ng/mL (Immulite), and as little as 2.67 ng/mL (BC-IRMA). The mean difference between assays ranged from 0.35 to 2.71 ng/mL, whereas several samples displayed differences up to 11.4 ng/mL. The best correlation (r=0.992) was found between AutoDELFIA and Liasion, the lowest (r=0.864) was between an in-house RIA and iSYS. The between-assay CV (mean \pm SD) of values within the cut-off range was 24.3% \pm 7.4%, resulting in an assay-dependent diagnosis of growth hormone deficiency (GHD) in more than 27% of patients. Yet, adjustment of this data by linear regression or a conversion factor reduced the CV below 14%, and the ratio of assay-dependent diagnoses below 8%. Using quantile transformation, the CV and ratio were reduced to 11.4% and \textless1%, respectively.\backslashr\backslashnCONCLUSIONS\backslashr\backslashnhGH measurements using different assays vary significantly. Linear regression, conversion factors, or particularly quantile transformation are useful tools to improve comparability in the diagnostic procedure for the confirmation of GHD in childhood and adolescence.

Authors: Anne Müller, Markus Scholz, Oliver Blankenstein, Gerhard Binder, Roland Pfäffle, Antje Körner, Wieland Kiess, Annegret Heider, Martin Bidlingmaier, Joachim Thiery, Jürgen Kratzsch

Date Published: 2011

Publication Type: Journal article

Health Informatics learning objectives on an interoperable, collaborative platform
SMITH - Smart Medical Information Technology for Healthcare

Abstract (Expand)

Catalogues of learning objectives for Biomedical and Health Informatics are relevant prerequisites for systematic and effective qualification. Catalogue management needs to integrate different catalogues … and support collaborative revisioning. The Health Informatics Learning Objectives Navigator (HI-LONa) offers an open, interoperable platform based on Semantic Web Technology. At present HI-LONa contains 983 learning objectives of three relevant catalogues. HI-LONa successfully supported a multiprofessional consensus process.

Authors: Cord Spreckelsen, Ulrike Schemmann, Lo An Phan-Vogtmann, André Scherag, Alfred Winter, Birgit Schneider

Date Published: 1st May 2021

Publication Type: Journal article

Health Informatics-Learning Objectiv Navigator (HI-LONa) – eine Open-Access-Plattform für ein agiles Lernzielmanagement
SMITH - Smart Medical Information Technology for Healthcare

Abstract (Expand)

Hintergrund: Ausgangspunkt von Hi-LONa ist der Auftrag der Medizininformatik-Initiative, die Lehre in der Medizinischen Informatik (MI) zu stärken. Voraussetzung hierzu ist ein Lernzielkatalog, der das … heterogene Feld der MI abdeckt und insbesondere mit dem sich hochdynamisch entwickelnden Fachgebiet[zum vollständigen Text gelangen Sie über die oben angegebene URL]

Authors: Birgit Schneider, Ulrike Schemmann, Lo An Phan-Vogtmann, Stefan Kropf, Cord Spreckelsen

Date Published: 2021

Publication Type: Misc

Health Information Systems
Management of health information systems

Abstract

Not specified

Author: Alfred Winter

Date Published: 2004

Publication Type: InCollection

Health Information Systems - Architectures and Strategies
Management of health information systems

Abstract

Not specified

Authors: Alfred Winter, Reinhold Haux, Elske Ammenwerth, Birgit Brigl, Nils Hellrung, Franziska Jahn

Date Published: 2011

Publication Type: Book

Health professional workstations and their integration in a hospital information system: the pragmatic approach MEDIAS
Management of health information systems

Abstract (Expand)

Within the daily workload at a ward there is a considerable amount of information processing. It is the task of a systematic management of hospital information systems to provide health professionals … with the right information in the right place at the right time. This paper deals with the consequences for the management of hospital information systems if health professional workstations are introduced as a means for this information logistic and with the experiences gained in the Heidelberg University Hospital. Health professional workstations are formally defined in the context of a three level graph-based model of hospital information systems. It is found that health professional workstations have communication needs not only on the physical level of computer systems in the hospital information system but also on the logical tool level, which is the level of application systems. On this level communication servers or brokers are of considerable importance. In Heidelberg there are about 200 health professional workstations (MEDIAS) in routine use.

Authors: Alfred Winter, A. Lagemann, B. Budig, W. Grothe, Reinhold Haux, S. Herr, J. Pilz, R. Sawinski, P. Schmucker

Date Published: 1996

Publication Type: Journal article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Background BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 …2 mutation carriers remains unclear. Methods We used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided. Results Observed height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer. Conclusion Height is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.

Authors: Frank Qian, Shengfeng Wang, Jonathan Mitchell, Lesley McGuffog, Daniel Barrowdale, Goska Leslie, Jan C. Oosterwijk, Wendy K. Chung, D. Gareth Evans, Christoph Engel, Karin Kast, Cora M. Aalfs, Muriel A. Adank, Julian Adlard, Bjarni A. Agnarsson, Kristiina Aittomäki, Elisa Alducci, Irene L. Andrulis, Banu K. Arun, Margreet G. E. M. Ausems, Jacopo Azzollini, Emmanuelle Barouk-Simonet, Julian Barwell, Muriel Belotti, Javier Benitez, Andreas Berger, Ake Borg, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Trinidad Caldes, Maria A. Caligo, Ian Campbell, Sandrine M. Caputo, Jocelyne Chiquette, Kathleen B. M. Claes, J. Margriet Collée, Fergus J. Couch, Isabelle Coupier, Mary B. Daly, Rosemarie Davidson, Orland Diez, Susan M. Domchek, Alan Donaldson, Cecilia M. Dorfling, Ros Eeles, Lidia Feliubadaló, Lenka Foretova, Jeffrey Fowler, Eitan Friedman, Debra Frost, Patricia A. Ganz, Judy Garber, Vanesa Garcia-Barberan, Gord Glendon, Andrew K. Godwin, Encarna B. Gómez Garcia, Jacek Gronwald, Eric Hahnen, Ute Hamann, Alex Henderson, Carolyn B. Hendricks, John L. Hopper, Peter J. Hulick, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Ángel Izquierdo, Anna Jakubowska, Katarzyna Kaczmarek, Eunyoung Kang, Beth Y. Karlan, Carolien M. Kets, Sung-Won Kim, Zisun Kim, Ava Kwong, Yael Laitman, Christine Lasset, Min Hyuk Lee, Jong Won Lee, Jihyoun Lee, Jenny Lester, Fabienne Lesueur, Jennifer T. Loud, Jan Lubinski, Noura Mebirouk, Hanne E. J. Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Thea M. Mooij, Patrick J. Morrison, Emmanuelle Mouret-Fourme, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Dieter Niederacher, Finn C. Nielsen, Robert L. Nussbaum, Kenneth Offit, Edith Olah, Kai-Ren Ong, Laura Ottini, Sue K. Park, Paolo Peterlongo, Georg Pfeiler, Catherine M. Phelan, Bruce Poppe, Nisha Pradhan, Paolo Radice, Susan J. Ramus, Johanna Rantala, Mark Robson, Gustavo C. Rodriguez, Rita K. Schmutzler, Christina G. Hutten Selkirk, Payal D. Shah, Jacques Simard, Christian F. Singer, Johanna Sokolowska, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, R. Manuel Teixeira, Soo H. Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda E. Toland, Katherine M. Tucker, Nadine Tung, Christi J. van Asperen, Klaartje van Engelen, Elizabeth J. van Rensburg, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Drakoulis Yannoukakos, Mark H. Greene, Matti A. Rookus, Douglas F. Easton, Georgia Chenevix-Trench, Antonis C. Antoniou, David E. Goldgar, Olufunmilayo I. Olopade, Timothy R. Rebbeck, Dezheng Huo

Date Published: 1st Apr 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

HematoWork: A Knowledge-based Workflow System for Distributed Cancer Therapy
Management of health information systems

Abstract

Not specified

Authors: R. Müller, B. Heller, M. Löffler, Alfred Winter, R. Speer, H. Berger, M. Klös, F. Brümmer, E. Jödecke, U. Neubert, F. Fiebig, E. Rahm

Date Published: 1998

Publication Type: InCollection

High acceptance of an early dyslexia screening test involving genetic analyses in Germany
Genetical Statistics and Systems Biology

Abstract (Expand)

Dyslexia is a developmental disorder characterized by severe problems in the acquisition of reading and writing skills. It has a strong neurobiological basis. Genetic influence is estimated at 50-70%. … One of the central problems with dyslexia is its late diagnosis, normally not before the end of the 2nd grade, resulting in the loss of several years for early therapy. Currently, research is focusing on the development of early tests for dyslexia, which may be based on EEG and genetics. Our aim was to determine the acceptance of such a future test among parents. We conducted a representative survey in Germany with 1000 parents of children aged 3-7 years, with and without experience of dyslexia. 88.7% of the parents supported the introduction of an early test for dyslexia based on EEG and genetics; 82.8% would have their own children tested, and 57.9% were willing to pay for the test if health insurance did not cover the costs. Test acceptance was significantly higher if parents had prior experience with dyslexia. The perceived benefits of such a test were early recognition and remediation and, preventing deficits. Concerns regarded the precision of the test, its potentially stigmatizing effect and its costs. The high overall support for the test leads to the conclusion that parents would accept a test for dyslexia based on EEG and genetics.

Authors: Arndt Wilcke, Bent Müller, Gesa Schaadt, Holger Kirsten, Johannes Boltze

Date Published: 1st Feb 2016

Publication Type: Journal article

High-dose CHOP plus etoposide (MegaCHOEP) in T-cell lymphoma: a comparative analysis of patients treated within trials of the German High-Grade Non-Hodgkin Lymphoma Study Group (DSHNHL).
GLA - German Lymphoma Alliance

Abstract (Expand)

BACKGROUND: T-cell lymphomas (T-NHL) generally carry a poor prognosis. High-dose therapy (HDT) and autologous stem cell transplantation (ASCT) are increasingly used to treat younger patients. DESIGN … AND METHODS: We treated patients <61 years with high-risk aggressive lymphoma with four to six courses of dose-escalated CHOP plus etoposide (MegaCHOEP) necessitating repeated ASCT. Outcomes of patients with mature T-NHL (excluding anaplastic lymphoma kinase-positive anaplastic large cell lymphoma) and aggressive B-NHL were compared using multivariate Cox regression analysis. RESULTS: Compared with 84.4% of B-NHL patients, 66.7% of T-NHL patients were able to receive all treatments; the rates of progressive disease were 27.3% in T-NHL and 16.3% in B-NHL patients. At 3 years, event-free survival (EFS) and overall survival were significantly worse for T-NHL [25.9% confidence interval (CI) 10.4% to 41.4% and 44.5% CI 26.5% to 62.5%) than for B-NHL patients (60.1% CI 52.1% to 68.1%; P < 0.001 and 63.4% CI 55.4% to 71.4%; P = 0.016). In multivariate analysis, T-NHL was a strongly significant adverse risk factor for EFS (relative risk 2.2, P = 0.001). CONCLUSIONS: MegaCHOEP for T-NHL patients was no better than other high-dose regimens and was unable to address the major problems of HDT/ASCT: neither early progressions nor early relapses were reduced. This study sheds some doubt on expectations that HDT/ASCT will significantly improve outcomes for patients with T-NHL.

Authors: M. Nickelsen, M. Ziepert, S. Zeynalova, B. Glass, B. Metzner, M. Leithaeuser, H. K. Mueller-Hermelink, M. Pfreundschuh, N. Schmitz

Date Published: 3rd Jul 2009

Publication Type: Not specified

Human Diseases: T-cell leukemia

Higher BMI, but not obesity-related genetic polymorphisms, correlates with lower structural connectivity of the reward network in a population-based study.
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND: Obesity is of complex origin, involving genetic and neurobehavioral factors. Genetic polymorphisms may increase the risk for developing obesity by modulating dopamine-dependent behaviors, … such as reward processing. Yet, few studies have investigated the association of obesity, related genetic variants, and structural connectivity of the dopaminergic reward network. METHODS: We analyzed 347 participants (age range: 20-59 years, BMI range: 17-38 kg/m(2)) of the LIFE-Adult Study. Genotyping for the single nucleotid polymorphisms rs1558902 (FTO) and rs1800497 (near dopamine D2 receptor) was performed on a microarray. Structural connectivity of the reward network was derived from diffusion-weighted magnetic resonance imaging at 3 T using deterministic tractography of Freesurfer-derived regions of interest. Using graph metrics, we extracted summary measures of clustering coefficient and connectivity strength between frontal and striatal brain regions. We used linear models to test the association of BMI, risk alleles of both variants, and reward network connectivity. RESULTS: Higher BMI was significantly associated with lower connectivity strength for number of streamlines (beta = -0.0025, 95%-C.I.: [-0.004, -0.0008], p = 0.0042), and, to lesser degree, fractional anisotropy (beta = -0.0009, 95%-C.I. [-0.0016, -0.00008], p = 0.031), but not clustering coefficient. Strongest associations were found for left putamen, right accumbens, and right lateral orbitofrontal cortex. As expected, the polymorphism rs1558902 in FTO was associated with higher BMI (F = 6.9, p < 0.001). None of the genetic variants was associated with reward network structural connectivity. CONCLUSIONS: Here, we provide evidence that higher BMI correlates with lower reward network structural connectivity. This result is in line with previous findings of obesity-related decline in white matter microstructure. We did not observe an association of variants in FTO or near DRD2 receptor with reward network structural connectivity in this population-based cohort with a wide range of BMI and age. Future research should further investigate the link between genetics, obesity and fronto-striatal structural connectivity.

Authors: F. Beyer, R. Zhang, M. Scholz, K. Wirkner, M. Loeffler, M. Stumvoll, A. Villringer, A. V. Witte

Date Published: 25th Oct 2020

Publication Type: Journal article

Higher body mass index is associated with reduced posterior default mode connectivity in older adults.
LIFE Adult

Abstract (Expand)

Obesity is a complex neurobehavioral disorder that has been linked to changes in brain structure and function. However, the impact of obesity on functional connectivity and cognition in aging humans … is largely unknown. Therefore, the association of body mass index (BMI), resting-state network connectivity, and cognitive performance in 712 healthy, well-characterized older adults of the Leipzig Research Center for Civilization Diseases (LIFE) cohort (60-80 years old, mean BMI 27.6 kg/m(2) +/- 4.2 SD, main sample: n = 521, replication sample: n = 191) was determined. Statistical analyses included a multivariate model selection approach followed by univariate analyses to adjust for possible confounders. Results showed that a higher BMI was significantly associated with lower default mode functional connectivity in the posterior cingulate cortex and precuneus. The effect remained stable after controlling for age, sex, head motion, registration quality, cardiovascular, and genetic factors as well as in replication analyses. Lower functional connectivity in BMI-associated areas correlated with worse executive function. In addition, higher BMI correlated with stronger head motion. Using 3T neuroimaging in a large cohort of healthy older adults, independent negative associations of obesity and functional connectivity in the posterior default mode network were observed. In addition, a subtle link between lower resting-state connectivity in BMI-associated regions and cognitive function was found. The findings might indicate that obesity is associated with patterns of decreased default mode connectivity similar to those seen in populations at risk for Alzheimer's disease. Hum Brain Mapp 38:3502-3515, 2017. (c) 2017 Wiley Periodicals, Inc.

Authors: F. Beyer, S. Kharabian Masouleh, J. M. Huntenburg, L. Lampe, T. Luck, S. G. Riedel-Heller, M. Loeffler, M. L. Schroeter, M. Stumvoll, A. Villringer, A. V. Witte

Date Published: 12th Apr 2017

Publication Type: Journal article

Human Diseases: obesity

High resolution genomic profiling and classical cytogenetics in a group of benign and atypical meningiomas
Genetical Statistics and Systems Biology

Abstract (Expand)

Meningiomas are classified as benign, atypical, or anaplastic. The majority are sporadic, solitary, and benign tumors with favorable prognoses. However, the prognosis for patients with anaplastic … meningiomas remains less favorable. High resolution genomic profiling has the capacity to provide more detailed information. Therefore, we analyzed genomic aberrations of benign and atypical meningiomas using single nucleotide polymorphism (SNP) array, combined with G-banding by trypsin using Giemsa stain (GTG banding), spectral karyotyping, and locus-specific fluorescence in situ hybridization (FISH). We confirmed frequently detected chromosomal aberrations in meningiomas and identified novel genetic events. Applying SNP array, we identified constitutional de novo loss or gain within chromosome 22 in three patients, possibly representing inherited causal events for meningioma formation. We show evidence for somatic segmental uniparental disomy in regions 4p16.1, 7q31.2, 8p23.2, and 9p22.1 not previously described for primary meningioma. GTG-banding and spectral karyotyping detected a novel balanced reciprocal translocation t(4;10)(q12;q26) in one benign meningioma. A paracentric inversion within 1p36, previously described as novel, was detected as a recurrent chromosomal aberration in benign and atypical meningiomas. Analyses of tumors and matched normal tissues with a combination of SNP arrays and complementary techniques will help to further elucidate potentially causal genetic events for tumorigenesis of meningioma.

Authors: Heidrun Holland, Kristin Mocker, Peter Ahnert, Holger Kirsten, Helene Hantmann, Ronald Koschny, Manfred Bauer, Ralf Schober, Markus Scholz, Jürgen Meixensberger, Wolfgang Krupp

Date Published: 1st Oct 2011

Publication Type: Journal article

High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

PURPOSE To report on 10 years of high-risk service screening with annual MRI in the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). METHODS A cohort of 4,573 high-risk, previously …sly unaffected women (954 BRCA1 carriers, 598 BRCA2 carriers, 3021 BRCA1/2 non-carriers) participating in the GC-HBOC surveillance program was prospectively followed. Screening outcomes for 14,142 screening rounds with MRI between 2006 and 2015 were analyzed and stratified by risk group, type of screening round, and age. RESULTS A total of 221 primary breast cancers (185 invasive, 36 in situ) were diagnosed within 12 months of an annual screening round with MRI. Of all cancers, 84.5% (174/206, 15 unknown) were stage 0 or I. In BRCA1 carriers, 16.9% (10/59, 5 unknown) of all incident cancers (screen-detected and interval cancers combined) and in BRCA2 carriers 12.5% (3/24, 4 unknown) were stage IIA or higher, compared to only 4.8% (2/42, 2 unknown) in high-risk BRCA1/2 non-carriers. Program sensitivity was 89.6% (95% CI 84.9-93.0) with no significant differences in sensitivity between risk groups or by age. Specificity was significantly lower in the first screening round (84.6%, 95% CI 83.6-85.7) than in subsequent screening rounds (91.1%, 95% CI 90.6-91.7), p \textless 0.001. Cancer detection rates (CDRs) and as a result positive predictive values were strongly dependent on type of screening round, risk group and patient age. CDRs ranged from 43.5‰ (95% CI 29.8-62.9) for the first screening round in BRCA2 carriers to 2.9‰ (95% CI 1.3-6.3) for subsequent screening rounds in high-risk non-carriers in the age group 30 to 39 years. CONCLUSIONS High-risk screening with MRI was successfully implemented in the GC-HBOC with high sensitivity and specificity. Risk prediction and inclusion criteria in high-risk non-carriers need to be adjusted to improve CDRs and thus screening efficacy in these patients.

Authors: Ulrich Bick, Christoph Engel, Barbara Krug, Walter Heindel, Eva M. Fallenberg, Kerstin Rhiem, David Maintz, Michael Golatta, Dorothee Speiser, Dorothea Rjosk-Dendorfer, Irina Lämmer-Skarke, Frederic Dietzel, Karl Werner Fritz Schäfer, Elena Leinert, Stefanie Weigel, Stephanie Sauer, Stefanie Pertschy, Thomas Hofmockel, Anne Hagert-Winkler, Karin Kast, Anne Quante, Alfons Meindl, Marion Kiechle, Markus Loeffler, Rita K. Schmutzler

Date Published: 1st May 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

HLA Class II Allele Analyses Implicate Common Genetic Components in Type 1 and Non-Insulin-Treated Type 2 Diabetes
Genetical Statistics and Systems Biology

Abstract (Expand)

CONTEXT Common genetic susceptibility may underlie the frequently observed co-occurrence of type 1 and type 2 diabetes in families. Given the role of HLA class II genes in the pathophysiology of type …e 1 diabetes, the aim of the present study was to test the association of high density imputed human leukocyte antigen (HLA) genotypes with type 2 diabetes. OBJECTIVES AND DESIGN Three cohorts (Ntotal = 10 413) from Leipzig, Germany were included in this study: LIFE-Adult (N = 4649), LIFE-Heart (N = 4815) and the Sorbs (N = 949) cohort. Detailed metabolic phenotyping and genome-wide single nucleotide polymorphism (SNP) data were available for all subjects. Using 1000 Genome imputation data, HLA genotypes were imputed on 4-digit level and association tests for type 2 diabetes, and related metabolic traits were conducted. RESULTS In a meta-analysis including all 3 cohorts, the absence of HLA-DRB5 was associated with increased risk of type 2 diabetes (P = 0.001). In contrast, HLA-DQB*06:02 and HLA-DQA*01:02 had a protective effect on type 2 diabetes (P = 0.005 and 0.003, respectively). Both alleles are part of the well-established type 1 diabetes protective haplotype DRB1*15:01~DQA1*01:02~DQB1*06:02, which was also associated with reduced risk of type 2 diabetes (OR 0.84; P = 0.005). On the contrary, the DRB1*07:01~DQA1*02:01~DQB1*03:03 was identified as a risk haplotype in non-insulin-treated diabetes (OR 1.37; P = 0.002). CONCLUSIONS Genetic variation in the HLA class II locus exerts risk and protective effects on non-insulin-treated type 2 diabetes. Our data suggest that the genetic architecture of type 1 diabetes and type 2 diabetes might share common components on the HLA class II locus.

Authors: Thomas Jacobi, Lucas Massier, Nora Klöting, Katrin Horn, Alexander Schuch, Peter Ahnert, Christoph Engel, Markus Löffler, Ralph Burkhardt, Joachim Thiery, Anke Tönjes, Michael Stumvoll, Matthias Blüher, Ilias Doxiadis, Markus Scholz, Peter Kovacs

Date Published: 1st Mar 2020

Publication Type: Journal article

Hospital-wide ELectronic medical record evaluated computerised decision support system to improve outcomes of Patients with staphylococcal bloodstream infection (HELP): study protocol for a multicentre stepped-wedge cluster randomised trial
SMITH - Smart Medical Information Technology for Healthcare

Abstract

Not specified

Authors: Stefan Hagel, Julia Gantner, Cord Spreckelsen, Claudia Fischer, Danny Ammon, Kutaiba Saleh, Lo An Phan-Vogtmann, Andrew Heidel, Susanne Müller, Alexander Helhorn, Henner Kruse, Eric Thomas, Florian Rißner, Silke Haferkamp, Jens Vorwerk, Saskia Deffge, Marc Fabian Juzek-Küpper, Norman Lippmann, Christoph Lübbert, Henning Trawinski, Sebastian Wendt, Thomas Wendt, Andreas Dürschmid, Margarethe Konik, Stefan Moritz, Daniel Tiller, Rainer Röhrig, Jonas Schulte-Coerne, Jonas Fortmann, Stephan Jonas, Oliver Witzke, Peter-Michael Rath, Mathias W Pletz, André Scherag

Date Published: 10th Feb 2020

Publication Type: Journal article

Human Diseases: staphyloenterotoxemia

How to Assess Quality of Electronic Health Record Systems
Management of health information systems

Abstract

Not specified

Author: Alfred Winter

Date Published: 2014

Publication Type: InCollection

How to Face Organizational Issues: Structuring Information Management in Hospitals
Management of health information systems

Abstract

Not specified

Authors: Alfred Winter, Birgit Brigl, Anke Häber

Date Published: 2001

Publication Type: InCollection

How to use information technology to improve medication safety
Management of health information systems

Abstract (Expand)

The publication of a memorandum on improving medication safety by information technology in both the German journal GMS Medical Informatics, Biometry and Epidemiology (MIBE) and the journal Methods of … Information in Medicine (MIM) gives reason to strengthen cooperation of MIBE and MIM and to report on more publications of MIBE here. The publications in focus deal with simulation-based optimization of emergency processes, handling of research data in publications, open access to research metadata, reliability of digital patient records in medical research, assessment methods for physical activity, using of insurance databases for epidemiological studies, certificates for epidemiological professionals, regression models, computer based training, and performance management in Swiss hospitals. Finally determining factors for scientific careers are discussed.

Authors: Alfred Winter, R. D. Hilgers, R. Hofestadt, Petra Knaup-Gregori, C. Ose, A. Timmer

Date Published: 20th Jan 2018

Publication Type: Journal article

Human brain arousal in the resting state: a genome-wide association study
Genetical Statistics and Systems Biology

Abstract (Expand)

Arousal affects cognition, emotion, and behavior and has been implicated in the etiology of psychiatric disorders. Although environmental conditions substantially contribute to the level of arousal, … stable interindividual characteristics are well-established and a genetic basis has been suggested. Here we investigated the molecular genetics of brain arousal in the resting state by conducting a genome-wide association study (GWAS). We selected N = 1877 participants from the population-based LIFE-Adult cohort. Participants underwent a 20-min eyes-closed resting state EEG, which was analyzed using the computerized VIGALL 2.1 (Vigilance Algorithm Leipzig). At the SNP-level, GWAS analyses revealed no genome-wide significant locus (p \textless 5E-8), although seven loci were suggestive (p \textless 1E-6). The strongest hit was an expression quantitative trait locus (eQTL) of TMEM159 (lead-SNP: rs79472635, p = 5.49E-8). Importantly, at the gene-level, GWAS analyses revealed significant evidence for TMEM159 (p = 0.013, Bonferroni-corrected). By mapping our SNPs to the GWAS results from the Psychiatric Genomics Consortium, we found that all corresponding markers of TMEM159 showed nominally significant associations with Major Depressive Disorder (MDD; 0.006 ≤ p ≤ 0.011). More specifically, variants associated with high arousal levels have previously been linked to an increased risk for MDD. In line with this, the MetaXcan database suggests increased expression levels of TMEM159 in MDD, as well as Autism Spectrum Disorder, and Alzheimer’s Disease. Furthermore, our pathway analyses provided evidence for a role of sodium/calcium exchangers in resting state arousal. In conclusion, the present GWAS identifies TMEM159 as a novel candidate gene which may modulate the risk for psychiatric disorders through arousal mechanisms. Our results also encourage the elaboration of the previously reported interrelations between ion-channel modulators, sleep-wake behavior, and psychiatric disorders.   Arousal affects cognition, emotion, and behavior and has been implicated in the etiology of psychiatric disorders. Although environmental conditions substantially contribute to the level of arousal, stable interindividual characteristics are well-established and a genetic basis has been suggested. Here we investigated the molecular genetics of brain arousal in the resting state by conducting a genome-wide association study (GWAS). We selected N = 1877 participants from the population-based LIFE-Adult cohort. Participants underwent a 20-min eyes-closed resting state EEG, which was analyzed using the computerized VIGALL 2.1 (Vigilance Algorithm Leipzig). At the SNP-level, GWAS analyses revealed no genome-wide significant locus (p \textless 5E-8), although seven loci were suggestive (p \textless 1E-6). The strongest hit was an expression quantitative trait locus (eQTL) of TMEM159 (lead-SNP: rs79472635, p = 5.49E-8). Importantly, at the gene-level, GWAS analyses revealed significant evidence for TMEM159 (p = 0.013, Bonferroni-corrected). By mapping our SNPs to the GWAS results from the Psychiatric Genomics Consortium, we found that all corresponding markers of TMEM159 showed nominally significant associations with Major Depressive Disorder (MDD; 0.006 ≤ p ≤ 0.011). More specifically, variants associated with high arousal levels have previously been linked to an increased risk for MDD. In line with this, the MetaXcan database suggests increased expression levels of TMEM159 in MDD, as well as Autism Spectrum Disorder, and Alzheimer’s Disease. Furthermore, our pathway analyses provided evidence for a role of sodium/calcium exchangers in resting state arousal. In conclusion, the present GWAS identifies TMEM159 as a novel candidate gene which may modulate the risk for psychiatric disorders through arousal mechanisms. Our results also encourage the elaboration of the previously reported interrelations between ion-channel modulators, sleep-wake behavior, and psychiatric disorders. // Arousal affects cognition, emotion, and behavior and has been implicated in the etiology of psychiatric disorders. Although environmental conditions substantially contribute to the level of arousal, stable interindividual characteristics are well-established and a genetic basis has been suggested. Here we investigated the molecular genetics of brain arousal in the resting state by conducting a genome-wide association study (GWAS). We selected N = 1877 participants from the population-based LIFE-Adult cohort. Participants underwent a 20-min eyes-closed resting state EEG, which was analyzed using the computerized VIGALL 2.1 (Vigilance Algorithm Leipzig). At the SNP-level, GWAS analyses revealed no genome-wide significant locus (p \textless 5E-8), although seven loci were suggestive (p \textless 1E-6). The strongest hit was an expression quantitative trait locus (eQTL) of TMEM159 (lead-SNP: rs79472635, p = 5.49E-8). Importantly, at the gene-level, GWAS analyses revealed significant evidence for TMEM159 (p = 0.013, Bonferroni-corrected). By mapping our SNPs to the GWAS results from the Psychiatric Genomics Consortium, we found that all corresponding markers of TMEM159 showed nominally significant associations with Major Depressive Disorder (MDD; 0.006 ≤ p ≤ 0.011). More specifically, variants associated with high arousal levels have previously been linked to an increased risk for MDD. In line with this, the MetaXcan database suggests increased expression levels of TMEM159 in MDD, as well as Autism Spectrum Disorder, and Alzheimer’s Disease. Furthermore, our pathway analyses provided evidence for a role of sodium/calcium exchangers in resting state arousal. In conclusion, the present GWAS identifies TMEM159 as a novel candidate gene which may modulate the risk for psychiatric disorders through arousal mechanisms. Our results also encourage the elaboration of the previously reported interrelations between ion-channel modulators, sleep-wake behavior, and psychiatric disorders.

Authors: Philippe Jawinski, Holger Kirsten, Christian Sander, Janek Spada, Christine Ulke, Jue Huang, Ralph Burkhardt, Markus Scholz, Tilman Hensch, Ulrich Hegerl

Date Published: 1st Nov 2019

Publication Type: Journal article

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