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2. Experience of urologists, oncologists and nurse practitioners with mainstream genetic testing in metastatic prostate cancer

Author

Vlaming, Michiel, Ausems, Margreet G. E. M., Kiemeney, Lambertus A. L. M., Schijven, Gina, van Melick, Harm H. E., Noordzij, M. Arjen, Somford, Diederik M., van der Poel, Henk G., Wijburg, Carl J., Wijsman, Bart P., Hoekstra, Robert J., van Moorselaar, Reindert J. A., van Bezooijen, Bart P. J., Meijer, Richard P., Busstra, Martijn B., van den Berg, H. Pieter, Robbrecht, Debbie G. J., Doornweerd, Benjamin H. J., Bleiker, Eveline M. A., and van Oort, Inge M.

Published
2024
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4. Digital consults in heart failure care: a randomized controlled trial

Author

Man, Jelle P., Koole, Maarten A. C., Meregalli, Paola G., Handoko, M. Louis, Stienen, Susan, de Lange, Frederik J., Winter, Michiel M., Schijven, Marlies P., Kok, Wouter E. M., Kuipers, Dorianne I., van der Harst, Pim, Asselbergs, Folkert W., Zwinderman, Aeilko H., Dijkgraaf, Marcel G. W., Chamuleau, Steven A. J., and Schuuring, Mark J.

Published
2024
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9. Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium.

Author

Schijven, Dick, Postema, Merel C, Fukunaga, Masaki, Matsumoto, Junya, Miura, Kenichiro, de Zwarte, Sonja MC, van Haren, Neeltje EM, Cahn, Wiepke, Hulshoff Pol, Hilleke E, Kahn, René S, Ayesa-Arriola, Rosa, Ortiz-García de la Foz, Víctor, Tordesillas-Gutierrez, Diana, Vázquez-Bourgon, Javier, Crespo-Facorro, Benedicto, Alnæs, Dag, Dahl, Andreas, Westlye, Lars T, Agartz, Ingrid, Andreassen, Ole A, Jönsson, Erik G, Kochunov, Peter, Bruggemann, Jason M, Catts, Stanley V, Michie, Patricia T, Mowry, Bryan J, Quidé, Yann, Rasser, Paul E, Schall, Ulrich, Scott, Rodney J, Carr, Vaughan J, Green, Melissa J, Henskens, Frans A, Loughland, Carmel M, Pantelis, Christos, Weickert, Cynthia Shannon, Weickert, Thomas W, de Haan, Lieuwe, Brosch, Katharina, Pfarr, Julia-Katharina, Ringwald, Kai G, Stein, Frederike, Jansen, Andreas, Kircher, Tilo TJ, Nenadić, Igor, Krämer, Bernd, Gruber, Oliver, Satterthwaite, Theodore D, Bustillo, Juan, Mathalon, Daniel H, Preda, Adrian, Calhoun, Vince D, Ford, Judith M, Potkin, Steven G, Chen, Jingxu, Tan, Yunlong, Wang, Zhiren, Xiang, Hong, Fan, Fengmei, Bernardoni, Fabio, Ehrlich, Stefan, Fuentes-Claramonte, Paola, Garcia-Leon, Maria Angeles, Guerrero-Pedraza, Amalia, Salvador, Raymond, Sarró, Salvador, Pomarol-Clotet, Edith, Ciullo, Valentina, Piras, Fabrizio, Vecchio, Daniela, Banaj, Nerisa, Spalletta, Gianfranco, Michielse, Stijn, van Amelsvoort, Therese, Dickie, Erin W, Voineskos, Aristotle N, Sim, Kang, Ciufolini, Simone, Dazzan, Paola, Murray, Robin M, Kim, Woo-Sung, Chung, Young-Chul, Andreou, Christina, Schmidt, André, Borgwardt, Stefan, McIntosh, Andrew M, Whalley, Heather C, Lawrie, Stephen M, du Plessis, Stefan, Luckhoff, Hilmar K, Scheffler, Freda, Emsley, Robin, Grotegerd, Dominik, Lencer, Rebekka, Dannlowski, Udo, Edmond, Jesse T, Rootes-Murdy, Kelly, Stephen, Julia M, Mayer, Andrew R, and Antonucci, Linda A

Subjects
Brain, Cerebral Cortex, Humans, Magnetic Resonance Imaging, Case-Control Studies, Schizophrenia, Female, Male, Functional Laterality, asymmetry, brain imaging, cortical, subcortical, Clinical Research, Mental Health, Neurosciences, Brain Disorders, Mental health
Abstract

Left-right asymmetry is an important organizing feature of the healthy brain that may be altered in schizophrenia, but most studies have used relatively small samples and heterogeneous approaches, resulting in equivocal findings. We carried out the largest case-control study of structural brain asymmetries in schizophrenia, with MRI data from 5,080 affected individuals and 6,015 controls across 46 datasets, using a single image analysis protocol. Asymmetry indexes were calculated for global and regional cortical thickness, surface area, and subcortical volume measures. Differences of asymmetry were calculated between affected individuals and controls per dataset, and effect sizes were meta-analyzed across datasets. Small average case-control differences were observed for thickness asymmetries of the rostral anterior cingulate and the middle temporal gyrus, both driven by thinner left-hemispheric cortices in schizophrenia. Analyses of these asymmetries with respect to the use of antipsychotic medication and other clinical variables did not show any significant associations. Assessment of age- and sex-specific effects revealed a stronger average leftward asymmetry of pallidum volume between older cases and controls. Case-control differences in a multivariate context were assessed in a subset of the data (N = 2,029), which revealed that 7% of the variance across all structural asymmetries was explained by case-control status. Subtle case-control differences of brain macrostructural asymmetry may reflect differences at the molecular, cytoarchitectonic, or circuit levels that have functional relevance for the disorder. Reduced left middle temporal cortical thickness is consistent with altered left-hemisphere language network organization in schizophrenia.

Published
2023

11. Better stoma care using the Stoma App: does it help? A first randomized double-blind clinical trial on the effect of mobile healthcare on quality of life in stoma patients

Author

van der Storm, Sebastiaan L., Consten, Esther C. J., Govaert, Marc J. P. M., Tuynman, Jurriaan B., Oosterling, Steven J., Grotenhuis, Brechtje A., Smits, Anke B., Marsman, Hendrik A., van Rossem, Charles C., van Duyn, Eino B., de Nes, Lindsey C. F., Verdaasdonk, Emiel, de Vries Reilingh, Tammo S., Vening, Wouter, Bemelman, Willem A., and Schijven, Marlies P.

Published
2024
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12. Rare copy number variation in posttraumatic stress disorder

Author

Maihofer, Adam X, Engchuan, Worrawat, Huguet, Guillaume, Klein, Marieke, MacDonald, Jeffrey R, Shanta, Omar, Thiruvahindrapuram, Bhooma, Jean-louis, Martineau, Saci, Zohra, Jacquemont, Sebastien, Scherer, Stephen W, Ketema, Elizabeth, Aiello, Allison E, Amstadter, Ananda B, Avdibegović, Esmina, Babic, Dragan, Baker, Dewleen G, Bisson, Jonathan I, Boks, Marco P, Bolger, Elizabeth A, Bryant, Richard A, Bustamante, Angela C, Caldas-de-Almeida, Jose Miguel, Cardoso, Graça, Deckert, Jurgen, Delahanty, Douglas L, Domschke, Katharina, Dunlop, Boadie W, Dzubur-Kulenovic, Alma, Evans, Alexandra, Feeny, Norah C, Franz, Carol E, Gautam, Aarti, Geuze, Elbert, Goci, Aferdita, Hammamieh, Rasha, Jakovljevic, Miro, Jett, Marti, Jones, Ian, Kaufman, Milissa L, Kessler, Ronald C, King, Anthony P, Kremen, William S, Lawford, Bruce R, Lebois, Lauren AM, Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D, Lugonja, Bozo, Luykx, Jurjen J, Lyons, Michael J, Mavissakalian, Matig R, McLaughlin, Katie A, McLean, Samuel A, Mehta, Divya, Mellor, Rebecca, Morris, Charles Phillip, Muhie, Seid, Orcutt, Holly K, Peverill, Matthew, Ratanatharathorn, Andrew, Risbrough, Victoria B, Rizzo, Albert, Roberts, Andrea L, Rothbaum, Alex O, Rothbaum, Barbara O, Roy-Byrne, Peter, Ruggiero, Kenneth J, Rutten, Bart PF, Schijven, Dick, Seng, Julia S, Sheerin, Christina M, Sorenson, Michael A, Teicher, Martin H, Uddin, Monica, Ursano, Robert J, Vinkers, Christiaan H, Voisey, Joanne, Weber, Heike, Winternitz, Sherry, Xavier, Miguel, Yang, Ruoting, McD Young, Ross, Zoellner, Lori A, Salem, Rany M, Shaffer, Richard A, Wu, Tianying, Ressler, Kerry J, Stein, Murray B, Koenen, Karestan C, Sebat, Jonathan, and Nievergelt, Caroline M

Subjects
Post-Traumatic Stress Disorder (PTSD), Mental Health, Human Genome, Genetics, Neurosciences, Brain Disorders, Mental health, Humans, DNA Copy Number Variations, Stress Disorders, Post-Traumatic, Genome, Brain, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Psychiatric Genomics Consortium PTSD Working Group, Psychiatric Genomics Consortium CNV Working Group, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Posttraumatic stress disorder (PTSD) is a heritable (h2 = 24-71%) psychiatric illness. Copy number variation (CNV) is a form of rare genetic variation that has been implicated in the etiology of psychiatric disorders, but no large-scale investigation of CNV in PTSD has been performed. We present an association study of CNV burden and PTSD symptoms in a sample of 114,383 participants (13,036 cases and 101,347 controls) of European ancestry. CNVs were called using two calling algorithms and intersected to a consensus set. Quality control was performed to remove strong outlier samples. CNVs were examined for association with PTSD within each cohort using linear or logistic regression analysis adjusted for population structure and CNV quality metrics, then inverse variance weighted meta-analyzed across cohorts. We examined the genome-wide total span of CNVs, enrichment of CNVs within specified gene-sets, and CNVs overlapping individual genes and implicated neurodevelopmental regions. The total distance covered by deletions crossing over known neurodevelopmental CNV regions was significant (beta = 0.029, SE = 0.005, P = 6.3 × 10-8). The genome-wide neurodevelopmental CNV burden identified explains 0.034% of the variation in PTSD symptoms. The 15q11.2 BP1-BP2 microdeletion region was significantly associated with PTSD (beta = 0.0206, SE = 0.0056, P = 0.0002). No individual significant genes interrupted by CNV were identified. 22 gene pathways related to the function of the nervous system and brain were significant in pathway analysis (FDR q

Published
2022

13. Psychological trauma and the genetic overlap between posttraumatic stress disorder and major depressive disorder

Author

Mundy, Jessica, Hübel, Christopher, Gelernter, Joel, Levey, Daniel, Murray, Robin M, Skelton, Megan, Stein, Murray B, Maihofer, Adam X, Nievergelt, Caroline M, Baker, Dewlen G, Risborough, Victoria B, Calabrese, Joseph R, Galea, Sandro, Stein, Dan J, Koen, Nastassja, Dalvie, Shareefa, Aiello, Allison E, Roberts, Andrea L, Koenen, KC, Solovieff, Nadia, Kranzler, Henry R, Zhao, Hongyu, Farrer, Lindsay A, Johnson, Eric Otto, Rice, John P, Bierut, Laura J, Saccone, Nancy L, McFarlane, Alexander, Forbes, David, Silove, Derrick, O'Donnell, Meaghan, Bryant, Richard A, van Hooff, Miranda, Sponheim, Scott R, Disner, Seth G, Pietrzak, Robert H, Chen, Chia-Yen, Smoller, Jordan W, Ursano, Robert J, Kessler, Ronald C, Junglen, Angela G, Delahanty, Douglas L, Amstadter, Ananda B, Sheerin, Christina M, Ruggiero, Ken, McLaughlin, Katie A, Peverill, Matthew, Caldas-de-Almeida, JM, Austin, S Bryn, Gelaye, Bizu, Williams, Michelle A, Sanchez, Sixto E, Franz, Carol E, Panizzon, Matthew S, Lyons, Michael J, Kremen, William S, Andreassen, Ole A, Dale, Anders M, Rutten, Bart PF, Vinkers, Christiaan, Schijven, Dick, Geuze, Elbert, Vermetten, Eric, Luykx, Jurjen J, Boks, Marco P, Ashley-Koch, Allison E, Beckham, Jean C, Garrett, Melanie E, Hauser, Michael A, Dennis, Michelle F, Kimbrel, Nathan A, Qin, Xue-Jun, Karstoft, Karen-Inge, Andersen, Soren B, Borglum, Anders D, Hougaard, David Michael, Bybjerg-Grauholm, Jonas, Duncan, Laramie E, Bµkvad-Hansen, Marie, Nordentoft, Merete, Mors, Ole, Mortensen, PB, Werge, Thomas, Thompson, Wesley K, Wang, Yunpeng, Heath, Andrew C, Nelson, Elliot C, Martin, Nicholas G, Gordon, Scott D, Wolf, Erika J, Logue, Mark W, Miller, Mark W, McGlinchey, Regina E, Milberg, William, Erbes, Christopher R, Polusny, Melissa A, Arbisi, Paul A, and Peterson, Alan L

Subjects
Prevention, Clinical Research, Genetics, Serious Mental Illness, Depression, Post-Traumatic Stress Disorder (PTSD), Mental Health, Brain Disorders, Anxiety Disorders, Major Depressive Disorder, Human Genome, 2.3 Psychological, social and economic factors, Aetiology, Mental health, Good Health and Well Being, Posttraumatic stress disorder, major depressive disorder, psychological trauma, genetics, genetic correlations, polygenic risk scores, Million Veteran Program, Post Traumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium, Neurosciences, Public Health and Health Services, Psychology, Psychiatry
Abstract

BackgroundPosttraumatic stress disorder (PTSD) and major depressive disorder (MDD) are commonly reported co-occurring mental health consequences of psychological trauma exposure. The disorders have high genetic overlap. Trauma is a complex phenotype but research suggests that trauma sensitivity has a heritable basis. We investigated whether sensitivity to trauma in those with MDD reflects a similar genetic component in those with PTSD.MethodsGenetic correlations between PTSD and MDD in individuals reporting trauma and MDD in individuals not reporting trauma were estimated, as well as with recurrent MDD and single-episode MDD, using genome-wide association study (GWAS) summary statistics. Genetic correlations were replicated using PTSD data from the Psychiatric Genomics Consortium and the Million Veteran Program. Polygenic risk scores were generated in UK Biobank participants who met the criteria for lifetime MDD (N = 29 471). We investigated whether genetic loading for PTSD was associated with reporting trauma in these individuals.ResultsGenetic loading for PTSD was significantly associated with reporting trauma in individuals with MDD [OR 1.04 (95% CI 1.01-1.07), Empirical-p = 0.02]. PTSD was significantly more genetically correlated with recurrent MDD than with MDD in individuals not reporting trauma (rg differences = ~0.2, p < 0.008). Participants who had experienced recurrent MDD reported significantly higher rates of trauma than participants who had experienced single-episode MDD (χ2 > 166, p < 0.001).ConclusionsOur findings point towards the existence of genetic variants associated with trauma sensitivity that might be shared between PTSD and MDD, although replication with better powered GWAS is needed. Our findings corroborate previous research highlighting trauma exposure as a key risk factor for recurrent MDD.

Published
2022

15. Mapping brain asymmetry in health and disease through the ENIGMA consortium

Author

Kong, Xiang‐Zhen, Postema, Merel C, Guadalupe, Tulio, de Kovel, Carolien, Boedhoe, Premika SW, Hoogman, Martine, Mathias, Samuel R, van Rooij, Daan, Schijven, Dick, Glahn, David C, Medland, Sarah E, Jahanshad, Neda, Thomopoulos, Sophia I, Turner, Jessica A, Buitelaar, Jan, van Erp, Theo GM, Franke, Barbara, Fisher, Simon E, van den Heuvel, Odile A, Schmaal, Lianne, Thompson, Paul M, and Francks, Clyde

Subjects
Biological Psychology, Psychology, Neurosciences, Mental Health, Mental Illness, Clinical Research, Behavioral and Social Science, Pediatric, Brain Disorders, Mental health, Neurological, Autism Spectrum Disorder, Cerebral Cortex, Depressive Disorder, Major, Gray Matter, Humans, Magnetic Resonance Imaging, Multicenter Studies as Topic, Neuroimaging, Obsessive-Compulsive Disorder, autism spectrum disorder, brain asymmetry, brain laterality, major depressive disorder, mega-analysis, meta-analysis, obsessive-compulsive disorder, structural imaging, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract

Left-right asymmetry of the human brain is one of its cardinal features, and also a complex, multivariate trait. Decades of research have suggested that brain asymmetry may be altered in psychiatric disorders. However, findings have been inconsistent and often based on small sample sizes. There are also open questions surrounding which structures are asymmetrical on average in the healthy population, and how variability in brain asymmetry relates to basic biological variables such as age and sex. Over the last 4 years, the ENIGMA-Laterality Working Group has published six studies of gray matter morphological asymmetry based on total sample sizes from roughly 3,500 to 17,000 individuals, which were between one and two orders of magnitude larger than those published in previous decades. A population-level mapping of average asymmetry was achieved, including an intriguing fronto-occipital gradient of cortical thickness asymmetry in healthy brains. ENIGMA's multi-dataset approach also supported an empirical illustration of reproducibility of hemispheric differences across datasets. Effect sizes were estimated for gray matter asymmetry based on large, international, samples in relation to age, sex, handedness, and brain volume, as well as for three psychiatric disorders: autism spectrum disorder was associated with subtly reduced asymmetry of cortical thickness at regions spread widely over the cortex; pediatric obsessive-compulsive disorder was associated with altered subcortical asymmetry; major depressive disorder was not significantly associated with changes of asymmetry. Ongoing studies are examining brain asymmetry in other disorders. Moreover, a groundwork has been laid for possibly identifying shared genetic contributions to brain asymmetry and disorders.

Published
2022

16. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Author

Stevelink, Remi, Luykx, Jurjen J, Lin, Bochao D, Leu, Costin, Lal, Dennis, Smith, Alexander W, Schijven, Dick, Carpay, Johannes A, Rademaker, Koen, Baldez, Roiza A Rodrigues, Devinsky, Orrin, Braun, Kees PJ, Jansen, Floor E, Smit, Dirk JA, Koeleman, Bobby PC, Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit‐Jan, De Jonghe, Peter, de Kovel, Carolien GF, Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B, Gui, Hongsheng, Guo, Youling, Haas, Kevin F, Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R, Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Trenite, Dorothee Kasteleijn‐Nolst, Kirsch, Heidi E, Knowlton, Robert C, Krause, Roland, Krenn, Martin, Kunz, Wolfram S, Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D, Lopes‐Cendes, Iscia, Lowenstein, Daniel H, Malovini, Alberto, Marson, Anthony G, Mayer, Thomas, McCormack, Mark, and Mills, James L

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Human Genome, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Algorithms, Beta Rhythm, Cohort Studies, Databases, Factual, Electroencephalography, Epilepsy, Generalized, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mendelian Randomization Analysis, Risk Assessment, Theta Rhythm, beta power, EEG, generalized epilepsy, GGE, oscillations, PRS, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveParoxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations.MethodsConfounding factors, including the heterogeneous etiology of epilepsies and medication effects, hamper studies on background brain activity in people with epilepsy. To overcome this limitation, we compared genetic data from a genome-wide association study (GWAS) on epilepsy (n = 12 803 people with epilepsy and 24 218 controls) with that from a GWAS on background EEG (n = 8425 subjects without epilepsy), in which background EEG oscillation power was quantified in four different frequency bands: alpha, beta, delta, and theta. We replicated our findings in an independent epilepsy replication dataset (n = 4851 people with epilepsy and 20 428 controls). To assess the genetic overlap between these phenotypes, we performed genetic correlation analyses using linkage disequilibrium score regression, polygenic risk scores, and Mendelian randomization analyses.ResultsOur analyses show strong genetic correlations of genetic generalized epilepsy (GGE) with background EEG oscillations, primarily in the beta frequency band. Furthermore, we show that subjects with higher beta and theta polygenic risk scores have a significantly higher risk of having generalized epilepsy. Mendelian randomization analyses suggest a causal effect of GGE genetic liability on beta oscillations.SignificanceOur results point to shared biological mechanisms underlying background EEG oscillations and the susceptibility for GGE, opening avenues to investigate the clinical utility of background EEG oscillations in the diagnostic workup of epilepsy.

Published
2021

19. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Author

Schijven, Dick, Stevelink, Remi, McCormack, Mark, van Rheenen, Wouter, Luykx, Jurjen J, Koeleman, Bobby PC, Veldink, Jan H, Consortium, Project MinE ALS GWAS, and Epilepsies, International League Against Epilepsy Consortium on Complex

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Epilepsy, Biotechnology, Brain Disorders, Genetics, Human Genome, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Humans, Negative Results, Risk, Project MinE ALS GWAS Consortium, International League Against Epilepsy Consortium on Complex Epilepsies, ALS, Genetic correlation, Clinical Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins.

Published
2020

20. European Association for Endoscopic Surgery (EAES) consensus on Indocyanine Green (ICG) fluorescence-guided surgery

Author

Cassinotti, E., Al-Taher, M., Antoniou, S. A., Arezzo, A., Baldari, L., Boni, L., Bonino, M. A., Bouvy, N. D., Brodie, R., Carus, T., Chand, M., Diana, M., Eussen, M. M. M., Francis, N., Guida, A., Gontero, P., Haney, C. M., Jansen, M., Mintz, Y., Morales-Conde, S., Muller-Stich, B. P., Nakajima, K., Nickel, F., Oderda, M., Parise, P., Rosati, R., Schijven, M. P., Silecchia, G., Soares, A. S., Urakawa, S., and Vettoretto, N.

Published
2023
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23. Take It Personal! Development and Modelling Study of an Indicated Prevention Programme for Substance Use in Adolescents and Young Adults with Mild Intellectual Disabilities and Borderline Intellectual Functioning

Author

Schijven, Esmée P., VanDerNagel, Joanneke E. L., Otten, Roy, Lammers, Jeroen, and Poelen, Evelien A. P.

Abstract

Background: This paper describes the theory and development of Take it personal! an indicated prevention programme aimed at reducing substance use in individuals with mild intellectual disabilities and borderline intellectual functioning. Method: The process of the development of Take it personal! followed the steps of the Intervention Mapping protocol. Take it personal! is based on the theory that personality traits are an important construct to understand substance use (14-30 years old). A small modelling study was conducted with six adolescents to examine the feasibility, user-friendliness and potential effectiveness of the intervention. Results: The results showed that the intervention has good feasibility and user-friendliness. Post-intervention evaluation of frequency, binge drinking and problematic use indicated that use was lower than at pre-intervention. Conclusions: Take it Personal! can be a promising preventive intervention designed to reduce substance use in individuals in this target group. A larger scale study is needed to draw further conclusions.

Published
2021
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24. Cardiopulmonary Resuscitation Training for High School Students Using an Immersive 360-Degree Virtual Reality Environment

Author

Barsom, E. Z., Duijm, R. D., Dusseljee-Peute, L. W. P., Landman-van der Boom, E. B., van Lieshout, E. J., Jaspers, M. W., and Schijven, M. P.

Abstract

Cardiopulmonary resuscitation (CPR) is a lifesaving emergency procedure. To increase survival rates, it is recommended to increase the number of high school students who know how to perform CPR. We have developed an immersive "Virtual Reality (VR) Resuscitation Training" to train the theoretical knowledge of CPR in which trainees must save the life of the patient in a virtual environment. This paper presents a randomized controlled study with a pre-posttest design to explore whether a VR enhanced curriculum improves high school students' theoretical CPR knowledge. Forty students without previous CPR experience in the past year were randomly assigned to either the VR group or the standard group. The VR group had a significant higher increase of correct answers in comparison with the Standard group. More importantly, the gain in score on taking the correct sequence of CPR steps was significant favouring the VR-enhanced protocol over the Standard protocol. Therefore, the use of a VR training for CPR training appears to be an effective learning method for non-medical students and may be of great value skilling high school students in becoming adequate CPR providers.

Published
2020
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25. Development and validity evidence of an objective structured assessment of technical skills score for minimally invasive linear-stapled, hand-sewn intestinal anastomoses: the A-OSATS score

Author

Schmidt, Mona W., Haney, Caelan M., Kowalewski, Karl-Friedrich, Bintintan, Vasile V., Abu Hilal, Mohammed, Arezzo, Alberto, Bahra, Marcus, Besselink, Marc G., Biebl, Matthias, Boni, Luigi, Diana, Michele, Egberts, Jan H., Fischer, Lars, Francis, Nader, Hashimoto, Daniel A., Perez, Daniel, Schijven, Marlies, Schmelzle, Moritz, Soltes, Marek, Swanstrom, Lee, Welsch, Thilo, Müller-Stich, Beat P., and Nickel, Felix

Published
2022
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29. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

Author

McLaughlin, Russell L, Schijven, Dick, van Rheenen, Wouter, van Eijk, Kristel R, O'Brien, Margaret, Kahn, René S, Ophoff, Roel A, Goris, An, Bradley, Daniel G, Al-Chalabi, Ammar, van den Berg, Leonard H, Luykx, Jurjen J, Hardiman, Orla, Veldink, Jan H, Project MinE GWAS Consortium, and Schizophrenia Working Group of the Psychiatric Genomics Consortium

Subjects
Project MinE GWAS Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Humans, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Linear Models, Odds Ratio, Case-Control Studies, Cohort Studies, Family, Schizophrenia, Comorbidity, Multifactorial Inheritance, Linkage Disequilibrium, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Genome-Wide Association Study, Serious Mental Illness, Genetics, Neurodegenerative, Brain Disorders, Mental Health, Human Genome, ALS, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Mental health
Abstract

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P=1 × 10-4) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10-7). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.

Published
2017

30. Information Dimension of Dissipative Quantum Walks

Author

Schijven, P. and Muelken, O.

Subjects
Quantum Physics, Condensed Matter - Statistical Mechanics
Abstract

We study the temporal growth of the von Neumann entropy for dissipative quantum walks on networks. By using a phenomenological quantum master equation, the quantum stochastic walk (QSW), we are able to parametrically scan the crossover from purely coherent quantum walks to purely diffusive random walks. In the latter limit the entropy shows a logarithmic growth, which is proportional to the information dimension of the random walk on the network. Here we present results for the von Neumann entropy based on the reduced density operator of the QSW. It shows a similar logarithmic growth for a wide range of parameter values and networks. As a consequence, we propose the logarithmic growth rate of the von Neumann entropy to be a natural extension of the information dimension to dissipative quantum systems. We corroborate our results by comparing to numerically exact simulations., Comment: 5 pages, 3 figures

Published
2014

33. Holographic description of strongly correlated electrons in external magnetic fields

Author

Gubankova, E., Brill, J., Cubrovic, M., Schalm, K., Schijven, P., and Zaanen, J.

Subjects
High Energy Physics - Theory, Condensed Matter - Strongly Correlated Electrons, High Energy Physics - Phenomenology
Abstract

We study the Fermi level structure of (2+1)-dimensional strongly interacting electron systems in external magnetic field using the AdS/CFT correspondence. The gravity dual of a finite density fermion system is a Dirac field in the background of the dyonic AdS-Reissner-Nordstrom black hole. In the probe limit the magnetic system can be reduced to the non-magnetic one, with Landau-quantized momenta and rescaled thermodynamical variables. We find that at strong enough magnetic fields, the Fermi surface vanishes and the quasiparticle is lost either through a crossover to conformal regime or through a phase transition to an unstable Fermi surface. In the latter case, the vanishing Fermi velocity at the critical magnetic field triggers the non-Fermi liquid regime with unstable quasiparticles and a change in transport properties of the system. We associate it with a metal-"strange metal" phase transition. We compute the DC Hall and longitudinal conductivities using the gravity-dressed fermion propagators. As expected, the Hall conductivity is quantized according to integer Quantum Hall Effect (QHE) at weak magnetic fields. At strong magnetic fields, new plateaus typical for the fractional QHE appear. Our pattern closely resembles the experimental results on graphite which are described using the fractional filling factor proposed by Halperin., Comment: 39 pages, 11 figures, Ch. 21, Lect. Notes Phys. "Strongly interacting matter in magnetic fields" (Springer), edited by D. Kharzeev, K. Landsteiner, A. Schmitt, H.-U. Yee. arXiv admin note: substantial text overlap with arXiv:1011.4051

Published
2013
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34. Energy transfer properties and absorption spectra of the FMO complex: from exact PIMC calculations to TCL master equations

Author

Schijven, Piet, Muehlbacher, Lothar, and Muelken, Oliver

Subjects
Physics - Chemical Physics, Condensed Matter - Statistical Mechanics, Physics - Biological Physics, Quantum Physics
Abstract

We investigate the excitonic energy transfer (EET) in the Fenna-Matthews-Olsen complex and obtain the linear absorption spectrum (at 300 K) by a phenomenological time-convolutionless (TCL) master equation which is validated by utilizing Path Integral Monte Carlo (PIMC) simulations. By applying Marcus' theory for choosing the proper Lindblad operators for the long-time incoherent hopping process and using local non-Markovian dephasing rates, our model shows very good agreement with the PIMC results for EET. It also correctly reproduces the linear absorption spectrum that is found in experiment, without using any fitting parameters., Comment: Added citations and small typographic corrections

Published
2013

35. Avoiding dark states in open quantum systems by tailored initial correlations

Author

Schijven, Piet and Muelken, Oliver

Subjects
Quantum Physics
Abstract

We study the transport of excitations on a V-shaped network of three coupled two-level systems that are subjected to an environment that induces incoherent hopping between the nodes. Two of the nodes are coupled to a source while the third node is coupled to a drain. A common feature of these networks is the existence of a dark-state that blocks the transport to the drain. Here we propose a means to avoid this state by a suitable choice of initial correlations, induced by a source that is common to both coupled nodes., Comment: 5 pages, 3 figures

Published
2012
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36. Transport efficiency in topologically disordered networks with environmentally induced diffusion

Author

Schijven, Petrus, Kohlberger, Johannes, Blumen, Alexander, and Muelken, Oliver

Subjects
Quantum Physics, Condensed Matter - Statistical Mechanics
Abstract

We study transport in topologically disordered networks that are subjected to an environment that induces classical diffusion. The dynamics is phenomenologically described within the framework of the recently introduced quantum stochastic walk, allowing to study the crossover between coherent transport and purely classical diffusion. We find that the coupling to the environment removes all effects of localization and quickly leads to classical transport. Furthermore, we find that on the level of the transport efficiency, the system can be well described by reducing it to a two-node network (a dimer)., Comment: 10 pages, 7 figures

Published
2011
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37. Holographic fermions in external magnetic fields

Author

Gubankova, E., Brill, J., Cubrovic, M., Schalm, K., Schijven, P., and Zaanen, J.

Subjects
High Energy Physics - Theory, Condensed Matter - Strongly Correlated Electrons
Abstract

We study the Fermi level structure of 2+1-dimensional strongly interacting electron systems in external magnetic field using the AdS/CFT correspondence. The gravity dual of a finite density fermion system is a Dirac field in the background of the dyonic AdS-Reissner-Nordstrom black hole. In the probe limit the magnetic system can be reduced to the non-magnetic one, with Landau-quantized momenta and rescaled thermodynamical variables. We find that at strong enough magnetic fields, the Fermi surface vanishes and the quasiparticle is lost either through a crossover to conformal regime or through a phase transition to an unstable Fermi surface. In the latter case, the vanishing Fermi velocity at the critical magnetic field triggers the non-Fermi liquid regime with unstable quasiparticles and a change in transport properties of the system. We associate it with a metal-"strange metal" phase transition. Next we compute the DC Hall and longitudinal conductivities using the gravity-dressed fermion propagators. For dual fermions with a large charge, many different Fermi surfaces contribute and the Hall conductivity is quantized as expected for integer Quantum Hall Effect (QHE). At strong magnetic fields, as additional Fermi surfaces open up, new plateaus typical for the fractional QHE appear. The somewhat irregular pattern in the length of fractional QHE plateaus resemble the outcomes of experiments on thin graphite in a strong magnetic field. Finally, motivated by the absence of the sign problem in holography, we suggest a lattice approach to the AdS calculations of finite density systems., Comment: 34 pages, 14 figures

Published
2010
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41. The use of 3D laparoscopic imaging systems in surgery: EAES consensus development conference 2018

Author

Arezzo, Alberto, Vettoretto, Nereo, Francis, Nader K., Bonino, Marco Augusto, Curtis, Nathan J., Amparore, Daniele, Arolfo, Simone, Barberio, Manuel, Boni, Luigi, Brodie, Ronit, Bouvy, Nicole, Cassinotti, Elisa, Carus, Thomas, Checcucci, Enrico, Custers, Petra, Diana, Michele, Jansen, Marilou, Jaspers, Joris, Marom, Gadi, Momose, Kota, Müller-Stich, Beat P., Nakajima, Kyokazu, Nickel, Felix, Perretta, Silvana, Porpiglia, Francesco, Sánchez-Margallo, Francisco, Sánchez-Margallo, Juan A., Schijven, Marlies, Silecchia, Gianfranco, Passera, Roberto, and Mintz, Yoav

Published
2019
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46. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

Author

Nievergelt, Caroline M., Maihofer, Adam X., Klengel, Torsten, Atkinson, Elizabeth G., Chen, Chia-Yen, Choi, Karmel W., Coleman, Jonathan R. I., Dalvie, Shareefa, Duncan, Laramie E., Gelernter, Joel, Levey, Daniel F., Logue, Mark W., Polimanti, Renato, Provost, Allison C., Ratanatharathorn, Andrew, Stein, Murray B., Torres, Katy, Aiello, Allison E., Almli, Lynn M., Amstadter, Ananda B., Andersen, Søren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegovic, Esmina, Babić, Dragan, Bækvad-Hansen, Marie, Baker, Dewleen G., Beckham, Jean C., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Børglum, Anders D., Bradley, Bekh, Brashear, Megan, Breen, Gerome, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Calabrese, Joseph R., Caldas- de- Almeida, José M., Dale, Anders M., Daly, Mark J., Daskalakis, Nikolaos P., Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Disner, Seth G., Domschke, Katharina, Dzubur-Kulenovic, Alma, Erbes, Christopher R., Evans, Alexandra, Farrer, Lindsay A., Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gelaye, Bizu, Geuze, Elbert, Gillespie, Charles, Uka, Aferdita Goci, Gordon, Scott D., Guffanti, Guia, Hammamieh, Rasha, Harnal, Supriya, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M. J., Hougaard, David Michael, Jakovljevic, Miro, Jett, Marti, Johnson, Eric Otto, Jones, Ian, Jovanovic, Tanja, Qin, Xue-Jun, Junglen, Angela G., Karstoft, Karen-Inge, Kaufman, Milissa L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kranzler, Henry R., Kremen, William S., Lawford, Bruce R., Lebois, Lauren A. M., Lewis, Catrin E., Linnstaedt, Sarah D., Lori, Adriana, Lugonja, Bozo, Luykx, Jurjen J., Lyons, Michael J., Maples-Keller, Jessica, Marmar, Charles, Martin, Alicia R., Martin, Nicholas G., Maurer, Douglas, Mavissakalian, Matig R., McFarlane, Alexander, McGlinchey, Regina E., McLaughlin, Katie A., McLean, Samuel A., McLeay, Sarah, Mehta, Divya, Milberg, William P., Miller, Mark W., Morey, Rajendra A., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben B., Neale, Benjamin M., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., O’Donnell, Meaghan, Orcutt, Holly K., Panizzon, Matthew S., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Rice, John P., Ripke, Stephan, Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Ken, Rung, Ariane, Rutten, Bart P. F., Saccone, Nancy L., Sanchez, Sixto E., Schijven, Dick, Seedat, Soraya, Seligowski, Antonia V., Seng, Julia S., Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stevens, Jennifer S., Sumner, Jennifer A., Teicher, Martin H., Thompson, Wesley K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., van den Heuvel, Leigh Luella, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan H., Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Wolff, Jonathan D., Yehuda, Rachel, Young, Ross McD., Young, Keith A., Zhao, Hongyu, Zoellner, Lori A., Liberzon, Israel, Ressler, Kerry J., Haas, Magali, and Koenen, Karestan C.

Published
2019
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48. Approaches to Evaluating Digital Health Technologies: Scoping Review.

Author

Rauwerdink, Anneloek, Spinazze, Pier, Gijsbers, Harm, Molendijk, Juul, Zwolsman, Sandra, Schijven, Marlies P, Chavannes, Niels H, and Kasteleyn, Marise J

Subjects
DIGITAL health, TECHNICAL literature, RANDOMIZED controlled trials, MEDICAL technology, MEDICAL specialties & specialists
Abstract

Background: Profound scientific evaluation of novel digital health technologies (DHTs) is key to enhance successful development and implementation. As such, we previously developed the eHealth evaluation cycle. The eHealth evaluation cycle contains 5 consecutive study phases: conceptual, development, feasibility, effectiveness, and implementation. Objective: The aim of this study is to develop a better understanding of the daily practice of the eHealth evaluation cycle. Therefore, the objectives are to conduct a structured analysis of literature data to analyze the practice of the evaluation study phases and to determine which evaluation approaches are used in which study phase of the eHealth evaluation cycle. Methods: We conducted a systematic literature search in PubMed including the MeSH term "telemedicine" in combination with a wide variety of evaluation approaches. Original peer-reviewed studies published in the year 2019 (pre-COVID-19 cohort) were included. Nonpatient-focused studies were excluded. Data on the following variables were extracted and systematically analyzed: journal, country, publication date, medical specialty, primary user, functionality, evaluation study phases, and evaluation approach. RStudio software was used to summarize the descriptive data and to perform statistical analyses. Results: We included 824 studies after 1583 titles and abstracts were screened. The majority of the evaluation studies focused on the effectiveness (impact; 304/824, 36.9%) study phase, whereas uptake (implementation; 70/824, 8.5%) received the least focus. Randomized controlled trials (RCTs; 170/899, 18.9%) were the most commonly used DHT evaluation method. Within the effectiveness (impact) study phase, RCTs were used in one-half of the studies. In the conceptual and planning phases, survey research (27/78, 35%) and interview studies (27/78, 35%) were most frequently used. The United States published the largest amount of DHT evaluation studies (304/824, 36.9%). Psychiatry and mental health (89/840, 10.6%) and cardiology (75/840, 8.9%) had the majority of studies published within the field. Conclusions: We composed the first comprehensive overview of the actual practice of implementing consecutive DHT evaluation study phases. We found that the study phases of the eHealth evaluation cycle are unequally studied and most attention is paid to the effectiveness study phase. In addition, the majority of the studies used an RCT design. However, in order to successfully develop and implement novel DHTs, stimulating equal evaluation of the sequential study phases of DHTs and selecting the right evaluation approach that fits the iterative nature of technology might be of the utmost importance. [ABSTRACT FROM AUTHOR]

Published
2024
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