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265 Publications visible to you, out of a total of 265
Conceptualizing neuropsychiatric diseases with multimodal data-driven meta-analyses - the case of behavioral variant frontotemporal dementia.
LIFE Adult

Abstract (Expand)

INTRODUCTION: Uniform coordinate systems in neuroimaging research have enabled comprehensive systematic and quantitative meta-analyses. Such approaches are particularly relevant for neuropsychiatric … diseases, the understanding of their symptoms, prediction and treatment. Behavioral variant frontotemporal dementia (bvFTD), a common neurodegenerative syndrome, is characterized by deep alterations in behavior and personality. Investigating this 'nexopathy' elucidates the healthy social and emotional brain. METHODS: Here, we combine three multimodal meta-analyses approaches - anatomical and activation likelihood estimates and behavioral domain profiles - to identify neural correlates of bvFTD in 417 patients and 406 control subjects and to extract mental functions associated with this disease by meta-analyzing functional activation studies in the comprehensive probabilistic functional brain atlas of the BrainMap database. RESULTS: The analyses identify the frontomedian cortex, basal ganglia, anterior insulae and thalamus as most relevant hubs, with a regional dissociation between atrophy and hypometabolism. Neural networks affected by bvFTD were associated with emotion and reward processing, empathy and executive functions (mainly inhibition), suggesting these functions as core domains affected by the disease and finally leading to its clinical symptoms. In contrast, changes in theory of mind or mentalizing abilities seem to be secondary phenomena of executive dysfunctions. CONCLUSIONS: The study creates a novel conceptual framework to understand neuropsychiatric diseases by powerful data-driven meta-analytic approaches that shall be extended to the whole neuropsychiatric spectrum in the future.

Authors: M. L. Schroeter, A. R. Laird, C. Chwiesko, C. Deuschl, E. Schneider, D. Bzdok, S. B. Eickhoff, J. Neumann

Date Published: 26th Apr 2014

Publication Type: Not specified

Human Diseases: frontotemporal dementia

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility … genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p\textless0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 \times 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 \times 10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.

Authors: Ana Osorio, Roger L. Milne, Karoline Kuchenbaecker, Tereza Vaclová, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de La Hoya, Mercedes Duran, Orland Díez, Teresa Ramón y Cajal, Irene Konstantopoulou, Cristina Martínez-Bouzas, Raquel Andrés Conejero, Penny Soucy, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Swe-Brca, Brita Arver, Johanna Rantala, Niklas Loman, Hans Ehrencrona, Olufunmilayo I. Olopade, Mary S. Beattie, Susan M. Domchek, Katherine Nathanson, Timothy R. Rebbeck, Banu K. Arun, Beth Y. Karlan, Christine Walsh, Jenny Lester, Esther M. John, Alice S. Whittemore, Mary B. Daly, Melissa Southey, John Hopper, Mary B. Terry, Saundra S. Buys, Ramunas Janavicius, Cecilia M. Dorfling, Elizabeth J. van Rensburg, Linda Steele, Susan L. Neuhausen, Yuan Chun Ding, Thomas v. O. Hansen, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Mar Infante, Belén Herráez, Leticia Thais Moreno, Jeffrey N. Weitzel, Josef Herzog, Kisa Weeman, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Bernardo Bonanni, Frederique Mariette, Sara Volorio, Alessandra Viel, Liliana Varesco, Laura Papi, Laura Ottini, Maria Grazia Tibiletti, Paolo Radice, Drakoulis Yannoukakos, Judy Garber, Steve Ellis, Debra Frost, Radka Platte, Elena Fineberg, Gareth Evans, Fiona Lalloo, Louise Izatt, Ros Eeles, Julian Adlard, Rosemarie Davidson, Trevor Cole, Diana Eccles, Jackie Cook, Shirley Hodgson, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Mary Porteous, Lucy Side, Lisa Walker, Patrick Morrison, Alan Donaldson, John Kennedy, Claire Foo, Andrew K. Godwin, Rita Katharina Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hans Jörg Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Dominique Stoppa-Lyonnet, Olga M. Sinilnikova, Sylvie Mazoyer, Francesca Damiola, Bruce Poppe, Kathleen Claes, Marion Piedmonte, Kathy Tucker, Floor Backes, Gustavo Rodríguez, Wendy Brewster, Katie Wakeley, Thomas Rutherford, Trinidad Caldés, Heli Nevanlinna, Kristiina Aittomäki, Matti A. Rookus, Theo A. M. van Os, Lizet van der Kolk, J. L. de Lange, Hanne E. J. Meijers-Heijboer, A. H. van der Hout, Christi J. van Asperen, Encarna B. Gómez Garcia, Nicoline Hoogerbrugge, J. Margriet Collée, Carolien H. M. van Deurzen, Rob B. van der Luijt, Peter Devilee, Hebon, Edith Olah, Conxi Lázaro, Alex Teulé, Mireia Menéndez, Anna Jakubowska, Cezary Cybulski, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Oskar Th Johannsson, Christine Maugard, Marco Montagna, Silvia Tognazzo, Manuel R. Teixeira, Sue Healey, Kconfab Investigators, Curtis Olswold, Lucia Guidugli, Noralane Lindor, Susan Slager, Csilla I. Szabo, Joseph Vijai, Mark Robson, Noah Kauff, Liying Zhang, Rohini Rau-Murthy, Anneliese Fink-Retter, Christian F. Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy-Kheng Tea, Andreas Berger, Catherine M. Phelan, Mark H. Greene, Phuong L. Mai, Flavio Lejbkowicz, Irene Andrulis, Anna Marie Mulligan, Gord Glendon, Amanda Ewart Toland, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Mads Thomassen, Torben A. Kruse, Uffe Birk Jensen, Eitan Friedman, Yael Laitman, Shani Paluch Shimon, Jacques Simard, Douglas F. Easton, Kenneth Offit, Fergus J. Couch, Georgia Chenevix-Trench, Antonis C. Antoniou, Javier Benitez

Date Published: 3rd Apr 2014

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Structural and functional MRI study of the brain, cognition and mood in long-term adequately treated Hashimoto's thyroiditis.
LIFE Adult

Abstract (Expand)

The current study investigated neuropsychological and underlying structural and functional brain alterations in long-term adequately treated patients with Hashimoto's thyroiditis in order to examine … much discussed residual complaints in patients in relation to possible long-term neural alterations with a specific interest in the underlying autoimmune process. Eighteen patients with treated hypothyroidism due to Hashimoto's thyroiditis (mean age 32, range 18-54 years; two males; mean treatment duration 4.4 years) and 18 healthy matched control subjects underwent 3-Tesla magnetic resonance imaging (MRI). Voxel-based morphometry was used to investigate grey matter density, resting-state functional MRI to analyse the brain connectivity of areas known to be altered in hypothyroidism and event-related functional MRI to examine brain activity during associative memory encoding. Neuropsychological assessment included memory, working memory, psychomotor speed and attention. We previously reported subclinically reduced mood in this study population and investigated its neural correlates here. Thyroid stimulating hormone, free triiodthyronine, free thyroxine and thyroid peroxidase antibodies were measured in serum. We did not find cognitive deficits or alterations in grey matter density, functional connectivity or associative memory-related brain activity in comparison to the control group and cognition was unrelated to thyroid serum measures in the patient group. Thyroid peroxidase antibodies in the patient group correlated with increased grey matter density in right amygdala and enhanced connectivity between subcallosal and parahippocampal areas. Treatment duration was associated with brain structure in frontal and occipital cortex and connectivity between left amygdala and frontal cortex. Mood correlated with brain areas associated with distinct functional networks, but not with those most prominently affected in depression. In conclusion, no cognitive or neural alterations were detected in this young and otherwise healthy cohort of patients in comparison to a healthy control group and current mood status could not be related to depression-related networks. However, autoimmune activity and treatment duration showed a relationship with depression and hypothyroidism-related brain structure and function. They are thus promising factors to further investigate residual complaints despite biochemically adequate treatment in patients with Hashimoto's thyroiditis. Given the small sample size, all findings require replication.

Authors: E. M. Quinque, S. Karger, K. Arelin, M. L. Schroeter, J. Kratzsch, A. Villringer

Date Published: 19th Mar 2014

Publication Type: Not specified

Human Diseases: autoimmune thyroiditis, hypothyroidism

Further evidence for a role of S100B in mood disorders: a human gene expression mega-analysis.
LIFE Adult

Abstract

Not specified

Authors: M. L. Schroeter, J. Steiner, P. Schonknecht, K. Mueller

Date Published: 18th Mar 2014

Publication Type: Not specified

Human Diseases: mood disorder, neurotic disorder

Impact of compliance with infection management guidelines on outcome in patients with severe sepsis: a prospective observational multi-center study.
SepNet - German Competence Network Sepsis

Abstract (Expand)

INTRODUCTION: Current sepsis guidelines recommend antimicrobial treatment (AT) within one hour after onset of sepsis-related organ dysfunction (OD) and surgical source control within 12 hours. The … objective of this study was to explore the association between initial infection management according to sepsis treatment recommendations and patient outcome. METHODS: In a prospective observational multi-center cohort study in 44 German ICUs, we studied 1,011 patients with severe sepsis or septic shock regarding times to AT, source control, and adequacy of AT. Primary outcome was 28-day mortality. RESULTS: Median time to AT was 2.1 (IQR 0.8 - 6.0) hours and 3 hours (-0.1 - 13.7) to surgical source control. Only 370 (36.6%) patients received AT within one hour after OD in compliance with recommendation. Among 422 patients receiving surgical or interventional source control, those who received source control later than 6 hours after onset of OD had a significantly higher 28-day mortality than patients with earlier source control (42.9% versus 26.7%, P <0.001). Time to AT was significantly longer in ICU and hospital non-survivors; no linear relationship was found between time to AT and 28-day mortality. Regardless of timing, 28-day mortality rate was lower in patients with adequate than non-adequate AT (30.3% versus 40.9%, P < 0.001). CONCLUSIONS: A delay in source control beyond 6 hours may have a major impact on patient mortality. Adequate AT is associated with improved patient outcome but compliance with guideline recommendation requires improvement. There was only indirect evidence about the impact of timing of AT on sepsis mortality.

Authors: F. Bloos, D. Thomas-Ruddel, H. Ruddel, C. Engel, D. Schwarzkopf, J. C. Marshall, S. Harbarth, P. Simon, R. Riessen, D. Keh, K. Dey, M. Weiss, S. Toussaint, D. Schadler, A. Weyland, M. Ragaller, K. Schwarzkopf, J. Eiche, G. Kuhnle, H. Hoyer, C. Hartog, U. Kaisers, K. Reinhart

Date Published: 3rd Mar 2014

Publication Type: Not specified

Human Diseases: bacterial infectious disease

Impact of image acquisition on voxel-based-morphometry investigations of age-related structural brain changes.
LIFE Adult

Abstract (Expand)

A growing number of magnetic resonance imaging studies employ voxel-based morphometry (VBM) to assess structural brain changes. Recent reports have shown that image acquisition parameters may influence … VBM results. For systematic evaluation, gray-matter-density (GMD) changes associated with aging were investigated by VBM employing acquisitions with different radiofrequency head coils (12-channel matrix coil vs. 32-channel array), different pulse sequences (MP-RAGE vs. MP2RAGE), and different voxel dimensions (1mm vs. 0.8mm). Thirty-six healthy subjects, classified as young, middle-aged, or elderly, participated in the study. Two-sample and paired t-tests revealed significant effects of acquisition parameters (coil, pulse sequence, and resolution) on the estimated age-related GMD changes in cortical and subcortical regions. Potential advantages in tissue classification and segmentation were obtained for MP2RAGE. The 32-channel coil generally outperformed the 12-channel coil, with more benefit for MP2RAGE. Further improvement can be expected from higher resolution if the loss in SNR is accounted for. Use of inconsistent acquisition parameters in VBM analyses is likely to introduce systematic bias. Overall, acquisition and protocol changes require careful adaptations of the VBM analysis strategy before generalized conclusion can be drawn.

Authors: D. P. Streitburger, A. Pampel, G. Krueger, J. Lepsien, M. L. Schroeter, K. Mueller, H. E. Moller

Date Published: 15th Feb 2014

Publication Type: Not specified

External ventricular drain infections: risk factors and outcome
SepNet - German Competence Network Sepsis

Abstract (Expand)

External ventricular drainage (EVD) is frequently used in neurosurgery to drain cerebrospinal fluid in patients with raised intracranial pressure. We performed a retrospective single center study in … order to evaluate the incidence of EVD-related infections and to identify underlying risk factors. 246 EVDs were placed in 218 patients over a 30-month period. EVD was continued in median for 7 days (range 1-44). The cumulative incidence of EVD-related infections was 8.3% (95% CI, 5.3-12.7) with a device-associated infection rate of 10.4 per 1000 drainage days (95% CI, 6.2-16.5). The pathogens most commonly identified were coagulase-negative Staphylococcus (62%) followed by Enterococcus spp. (19%). Patients with an EVD-related infection had a significantly longer ICU (11 versus 21 days, P \textless 0.01) and hospital stay (20 versus 28.5 days, P \textless 0.01) than patients without. Median total duration of external drainage was twice as long in patients with EVD-related infection (6 versus 12 days, P \textless 0.01). However, there was no significant difference in the duration between first EVD placement and the occurrence of EVD-related infection and EVD removal in patients without EVD-related infection (6 versus 7 days, P = 0.87), respectively. Interestingly no risk factor for EVD-related infection could be identified in our cohort of patients.

Authors: S. Hagel, T. Bruns, M. W. Pletz, C. Engel, R. Kalff, C. Ewald

Date Published: 2014

Publication Type: Journal article

Human Diseases: disease by infectious agent

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