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3. Gadolinium-enhanced intracranial aneurysm wall imaging and risk of aneurysm growth and rupture: a multicentre longitudinal cohort study

Author

van der Kamp, Laura T., Edjlali, Myriam, Naggara, Olivier, Matsushige, Toshinori, Bulters, Diederik O., Digpal, Ronneil, Zhu, Chengcheng, Saloner, David, Hu, Peng, Zhai, Xiaodong, Mossa-Basha, Mahmud, Tian, Bing, Sakamoto, Shigeyuki, Fu, Qichang, Ruigrok, Ynte M., Zhao, Huilin, Chen, Huijun, Rinkel, Gabriel J. E., van der Schaaf, Irene C., and Vergouwen, Mervyn D. I.

Published
2024
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5. A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis

Author

Gaastra, Ben, Alexander, Sheila, Bakker, Mark K., Bhagat, Hemant, Bijlenga, Philippe, Blackburn, Spiros L., Collins, Malie K., Doré, Sylvain, Griessenauer, Christoph J., Hendrix, Philipp, Hong, Eun Pyo, Hostettler, Isabel C., Houlden, Henry, IIhara, Koji, Jeon, Jin Pyeong, Kim, Bong Jun, Li, Jiang, Morel, Sandrine, Nyquist, Paul, Ren, Dianxu, Ruigrok, Ynte M., Werring, David, Tapper, Will, Galea, Ian, and Bulters, Diederik

Published
2023
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7. Variational Autoencoders with a Structural Similarity Loss in Time of Flight MRAs

Author

Timmins, Kimberley M., van der Schaaf, Irene C., Ruigrok, Ynte M., Velthuis, Birgitta K., and Kuijf, Hugo J.

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning
Abstract

Time-of-Flight Magnetic Resonance Angiographs (TOF-MRAs) enable visualization and analysis of cerebral arteries. This analysis may indicate normal variation of the configuration of the cerebrovascular system or vessel abnormalities, such as aneurysms. A model would be useful to represent normal cerebrovascular structure and variabilities in a healthy population and to differentiate from abnormalities. Current anomaly detection using autoencoding convolutional neural networks usually use a voxelwise mean-error for optimization. We propose optimizing a variational-autoencoder (VAE) with structural similarity loss (SSIM) for TOF-MRA reconstruction. A patch-trained 2D fully-convolutional VAE was optimized for TOF-MRA reconstruction by comparing vessel segmentations of original and reconstructed MRAs. The method was trained and tested on two datasets: the IXI dataset, and a subset from the ADAM challenge. Both trained networks were tested on a dataset including subjects with aneurysms. We compared VAE optimization with L2-loss and SSIM-loss. Performance was evaluated between original and reconstructed MRAs using mean square error, mean-SSIM, peak-signal-to-noise-ratio and dice similarity index (DSI) of segmented vessels. The L2-optimized VAE outperforms SSIM, with improved reconstruction metrics and DSIs for both datasets. Optimization using SSIM performed best for visual image quality, but with discrepancy in quantitative reconstruction and vascular segmentation. The larger, more diverse IXI dataset had overall better performance. Reconstruction metrics, including SSIM, were lower for MRAs including aneurysms. A SSIM-optimized VAE improved the visual perceptive image quality of TOF-MRA reconstructions. A L2-optimized VAE performed best for TOF-MRA reconstruction, where the vascular segmentation is important. SSIM is a potential metric for anomaly detection of MRAs., Comment: SPIE Medical Imaging 2021

Published
2021
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10. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author

Bakker, Mark K, van der Spek, Rick AA, van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C, Alg, Varinder S, van Eijk, Kristel R, Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G, Lin, Kuang, Li, Liming, Millwood, Iona Y, Chen, Zhengming, Rouleau, Guy A, Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie LM, Houlden, Henry, van den Berg, Leonard H, Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S, Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M, Sandvei, Marie Søfteland, Willer, Cristen J, Hveem, Kristian, Zwart, John-Anker, Verschuren, WM Monique, Friedrich, Christoph M, Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Jones, Gregory T, Bown, Matthew J, Ko, Nerissa U, Kim, Helen, Coleman, Jonathan RI, Breen, Gerome, Zaroff, Jonathan G, Klijn, Catharina JM, Malik, Rainer, Dichgans, Martin, Sargurupremraj, Muralidharan, Tatlisumak, Turgut, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel JE, Worrall, Bradford B, Pera, Joanna, Slowik, Agnieszka, Gaál-Paavola, Emília I, Niemelä, Mika, Jääskeläinen, Juha E, von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P, Werring, David J, Woo, Daniel, Redon, Richard, Bijlenga, Philippe, Kamatani, Yoichiro, Veldink, Jan H, and Ruigrok, Ynte M

Subjects
Genetics, Brain Disorders, Human Genome, Clinical Research, Prevention, Stroke, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Asian People, Blood Pressure, Case-Control Studies, Endothelial Cells, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Hypertension, Intracranial Aneurysm, Polymorphism, Single Nucleotide, Risk Factors, Smoking, Subarachnoid Hemorrhage, White People, HUNT All-In Stroke, China Kadoorie Biobank Collaborative Group, BioBank Japan Project Consortium, ICAN Study Group, CADISP Group, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators, International Stroke Genetics Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.

Published
2020

11. Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie

Published
2022
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13. Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol

Author

Gaastra, Ben, Alexander, Sheila, Bakker, Mark K., Bhagat, Hemant, Bijlenga, Philippe, Blackburn, Spiros, Collins, Malie K., Doré, Sylvain, Griessenauer, Christoph, Hendrix, Philipp, Hong, Eun Pyo, Hostettler, Isabel C., Houlden, Henry, IIhara, Koji, Jeon, Jin Pyeong, Kim, Bong Jun, Kumar, Munish, Morel, Sandrine, Nyquist, Paul, Ren, Dianxu, Ruigrok, Ynte M., Werring, David, Galea, Ian, Bulters, Diederik, and Tapper, Will

Published
2022
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17. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Author

Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K., Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A., Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L., Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M., Coleman, Dawn M., d’Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z., Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C., Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, Amouyel, Philippe, De Buyzere, Marc L., Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L., Olin, Jeffrey W., Piwonski, Jerzy, Rietzschel, Ernst R., Ruigrok, Ynte M., Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J., Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C., Ganesh, Santhi K., and Bouatia-Naji, Nabila

Published
2022
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20. Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Author

Bakker, Mark K., Kanning, Jos P., Abraham, Gad, Martinsen, Amy E., Winsvold, Bendik S., Zwart, John-Anker, Bourcier, Romain, Sawada, Tomonobu, Koido, Masaru, Kamatani, Yoichiro, Morel, Sandrine, Amouyel, Philippe, Debette, Stéphanie, Bijlenga, Philippe, Berrandou, Takiy, Ganesh, Santhi K., Bouatia-Naji, Nabila, Jones, Gregory, Bown, Matthew, Rinkel, Gabriel J.E., Veldink, Jan H., Ruigrok, Ynte M., Hege Aamodt, Anne, Heidi Skogholt, Anne, Brumpton, Ben M, Willer, Cristen J, Sandset, Else C, Kristoffersen, Espen S, Ellekjær, Hanne, Heuch, Ingrid, Nielsen, Jonas B, Hagen, Knut, Hveem, Kristian, Fritsche, Lars G, Thomas, Laurent F, Pedersen, Linda M, Gabrielsen, Maiken E, Holmen, Oddgeir L, Børte, Sigrid, Zhou, Wei, Abboud, Shérine, Pandolfo, Massimo, Thijs, Vincent, Leys, Didier, Bodenant, Marie, Louillet, Fabien, Touzé, Emmanuel, Mas, Jean-Louis, Samson, Yves, Leder, Sara, Léger, Anne, Deltour, Sandrine, Crozier, Sophie, Méresse, Isabelle, Canaple, Sandrine, Godefroy, Olivier, Giroud, Maurice, Béjot, Yannick, Decavel, Pierre, Medeiros, Elizabeth, Montiel, Paola, Moulin, Thierry, Vuillier, Fabrice, Dallongeville, Jean, Metso, Antti J, Metso, Tiina, Tatlisumak, Turgut, Grond-Ginsbach, Caspar, Lichy, Christoph, Kloss, Manja, Werner, Inge, Arnold, Marie-Luise, Dos Santos, Michael, Grau, Armin, Dichgans, Martin, Thomas-Feles, Constanze, Weber, Ralf, Brandt, Tobias, Pezzini, Alessandro, De Giuli, Valeria, Caria, Filomena, Poli, Loris, Padovani, Alessandro, Bersano, Anna, Lanfranconi, Silvia, Beretta, Simone, Ferrarese, Carlo, Giacolone, Giacomo, Paolucci, Stefano, Lyrer, Philippe, Engelter, Stefan, Fluri, Felix, Hatz, Florian, Gisler, Dominique, Bonati, Leo, Gensicke, Henrik, Amort, Margareth, Markus, Hugh, Majersik, Jennifer, Worrall, Bradford, Southerland, Andrew, Cole, John, Kittner, Steven, Evangelou, Evangelos, Warren, Helen R, Gao, He, Ntritsos, Georgios, Dimou, Niki, Esko, Tonu, Mägi, Reedik, Milani, Lili, Almgren, Peter, Boutin, Thibaud, Ding, Jun, Giulianini, Franco, Holliday, Elizabeth G, Jackson, Anne U, Li-Gao, Ruifang, Lin, Wei-Yu, Luan, Jian’an, Mangino, Massimo, Oldmeadow, Christopher, Peter Prins, Bram, Qian, Yong, Sargurupremraj, Muralidharan, Shah, Nabi, Surendran, Praveen, Thériault, Sébastien, Verweij, Niek, Willems, Sara M, Zhao, Jing-Hua, Connell, John, de Mutsert, Renée, Doney, Alex SF, Farrall, Martin, Menni, Cristina, Morris, Andrew D, Noordam, Raymond, Paré, Guillaume, Poulter, Neil R, Shields, Denis C, Stanton, Alice, Thom, Simon, Abecasis, Gonçalo, Amin, Najaf, Arking, Dan E, Ayers, Kristin L, Barbieri, Caterina M, Batini, Chiara, Bis, Joshua C, Blake, Tineka, Bochud, Murielle, Boehnke, Michael, Boerwinkle, Eric, Boomsma, Dorret I, Bottinger, Erwin P, Braund, Peter S, Brumat, Marco, Campbell, Archie, Campbell, Harry, Chakravarti, Aravinda, Chambers, John C, Chauhan, Ganesh, Ciullo, Marina, Cocca, Massimiliano, Collins, Francis, Cordell, Heather J, Davies, Gail, de Borst, Martin H, de Geus, Eco J, Deary, Ian J, Deelen, Joris, Del Greco M, Fabiola, Yusuf Demirkale, Cumhur, Dörr, Marcus, Ehret, Georg B, Elosua, Roberto, Enroth, Stefan, Mesut Erzurumluoglu, A, Ferreira, Teresa, Frånberg, Mattias, Franco, Oscar H, Gandin, Ilaria, Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Goel, Anuj, Gow, Alan J, Gudnason, Vilmundur, Guo, Xiuqing, Gyllensten, Ulf, Hamsten, Anders, Harris, Tamara B, Harris, Sarah E, Hartman, Catharina A, Havulinna, Aki S, Hicks, Andrew A, Hofer, Edith, Hofman, Albert, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Shih-Jen, Ingelsson, Erik, James, Alan, Jansen, Rick, Jarvelin, Marjo-Riitta, Joehanes, Roby, Johansson, Åsa, Johnson, Andrew D, Joshi, Peter K, Jousilahti, Pekka, Wouter Jukema, J, Jula, Antti, Kähönen, Mika, Kathiresan, Sekar, Keavney, Bernard D, Khaw, Kay-Tee, Knekt, Paul, Knight, Joanne, Kolcic, Ivana, Kooner, Jaspal S, Koskinen, Seppo, Kristiansson, Kati, Kutalik, Zoltan, Laan, Maris, Larson, Marty, Launer, Lenore J, Lehne, Benjamin, Lehtimäki, Terho, Liewald, David CM, Lin, Li, Lind, Lars, Lindgren, Cecilia M, Liu, YongMei, Loos, Ruth JF, Lopez, Lorna M, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamasoula, Chrysovalanto, Marrugat, Jaume, Marten, Jonathan, Milaneschi, Yuri, Morgan, Anna, Morris, Andrew P, Morrison, Alanna C, Munson, Peter J, Nalls, Mike A, Nandakumar, Priyanka, Nelson, Christopher P, Niiranen, Teemu, Nolte, Ilja M, Nutile, Teresa, Oldehinkel, Albertine J, Oostra, Ben A, O’Reilly, Paul F, Org, Elin, Padmanabhan, Sandosh, Palmas, Walter, Palotie, Aarno, Pattie, Alison, WJH Penninx, Brenda, Perola, Markus, Peters, Annette, Polasek, Ozren, Pramstaller, Peter P, Tri Nguyen, Quang, Raitakari, Olli T, Rettig, Rainer, Rice, Kenneth, Ridker, Paul M, Ried, Janina S, Riese, Harriëtte, Ripatti, Samuli, Robino, Antonietta, Rose, Lynda M, Rotter, Jerome I, Rudan, Igor, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia F, Salomaa, Veikko, Samani, Nilesh J, Sarin, Antti-Pekka, Schmidt, Reinhold, Schmidt, Helena, Shrine, Nick, Siscovick, David, Smith, Albert V, Snieder, Harold, Sõber, Siim, Sorice, Rossella, Starr, John M, Stott, David J, Strachan, David P, Strawbridge, Rona J, Sundström, Johan, Swertz, Morris A, Taylor, Kent D, Teumer, Alexander, Tobin, Martin D, Tomaszewski, Maciej, Toniolo, Daniela, Traglia, Michela, Trompet, Stella, Tuomilehto, Jaakko, Tzourio, Christophe, Uitterlinden, André G, Vaez, Ahmad, van der Most, Peter J, van Duijn, Cornelia M, Verwoert, Germaine C, Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Vuckovic, Dragana, Watkins, Hugh, Wild, Sarah H, Willemsen, Gonneke, Wilson, James F, Wright, Alan F, Yao, Jie, Zemunik, Tatijana, Zhang, Weihua, Attia, John R, Butterworth, Adam S, Chasman, Daniel I, Conen, David, Cucca, Francesco, Danesh, John, Hayward, Caroline, Howson, Joanna MM, Laakso, Markku, Lakatta, Edward G, Langenberg, Claudia, Melander, Olle, Mook-Kanamori, Dennis O, Palmer, Colin NA, Risch, Lorenz, Scott, Robert A, Scott, Rodney J, Sever, Peter, Spector, Tim D, van der Harst, Pim, Wareham, Nicholas J, Zeggini, Eleftheria, Levy, Daniel, Munroe, Patricia B, Newton-Cheh, Christopher, Brown, Morris J, Metspalu, Andres, Psaty, Bruce M., Wain, Louise V, Elliott, Paul, Caulfield, Mark J, Gormley, Padhraig, Anttila, Verneri, Palta, Priit, Esko, Tonu, Pers, Tune H, Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A, Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M, Kallela, Mikko, Freilinger, Tobias M, Ran, Caroline, Gordon, Scott G, Stam, Anine H, Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H H, Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A, Buring, Julie E, Schürks, Markus, Ridker, Paul M, Gudlaug Hrafnsdottir, Maria, Stefansson, Hreinn, Ring, Susan M, Hottenga, Jouke-Jan, Penninx, Brenda W J H, Färkkilä, Markus, Artto, Ville, Kaunisto, Mari, Vepsäläinen, Salli, Malik, Rainer, Heath, Andrew C, Madden, Pamela A F, Martin, Nicholas G, Montgomery, Grant W, Kurki, Mitja I, Kals, Mart, Mägi, Reedik, Pärn, Kalle, Hämäläinen, Eija, Huang, Hailiang, Byrnes, Andrea E, Franke, Lude, Huang, Jie, Stergiakouli, Evie, Lee, Phil H, Sandor, Cynthia, Webber, Caleb, Cader, Zameel, Muller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Eriksson, Johan G, Salomaa, Veikko, Heikkilä, Kauko, Loehrer, Elizabeth, Uitterlinden, Andre G, Hofman, Albert, van Duijn, Cornelia M, Cherkas, Lynn, Pedersen, Linda M, Stubhaug, Audun, Nielsen, Christopher S, Männikkö, Minna, Mihailov, Evelin, Milani, Lili, Göbel, Hartmut, Esserlind, Ann-Louise, Francke Christensen, Anne, Folkmann Hansen, Thomas, Werge, Thomas, Kaprio, Jaakko, Aromaa, Arpo J, Raitakari, Olli, Arfan Ikram, M, Spector, Tim, Järvelin, Marjo-Riitta, Metspalu, Andres, Kubisch, Christian, Strachan, David P, Ferrari, Michel D, Belin, Andrea C, Dichgans, Martin, Wessman, Maija, van den Maagdenberg, Arn M J M, Boomsma, Dorret I, Davey Smith, George, Stefansson, Kari, Eriksson, Nicholas, Daly, Mark J, Neale, Benjamin M, Olesen, Jes, Chasman, Daniel I, Nyholt, Dale R, Palotie, Aarno, Akiyama, Masato, Alg, Varinder S., Børte, Sigrid, Broderick, Joseph P., Brumpton, Ben M., Dauvillier, Jérôme, Desal, Hubert, Dina, Christian, Friedrich, Christoph M., Gaál-Paavola, Emília I., Gentric, Jean-Christophe, Hirsch, Sven, Hostettler, Isabel C., Houlden, Henry, Hveem, Kristian, Jääskeläinen, Juha E., Johnsen, Marianne Bakke, Li, Liming, Lin, Kuang, Lindgren, Antti, Martin, Olivier, Matsuda, Koichi, Millwood, Iona Y., Naggara, Olivier, Niemelä, Mika, Pera, Joanna, Redon, Richard, Rouleau, Guy A., Sandvei, Marie Søfteland, Schilling, Sabine, Shotar, Eimad, Slowik, Agnieszka, Terao, Chikashi, Verschuren, W. M. Monique, Walters, Robin G., Werring, David J., Willer, Cristen J., Woo, Daniel, Worrall, Bradford B., and Zhou, Sirui

Published
2023
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21. Comparing methods of detecting and segmenting unruptured intracranial aneurysms on TOF-MRAS: The ADAM challenge

Author

Timmins, Kimberley M., van der Schaaf, Irene C., Bennink, Edwin, Ruigrok, Ynte M., An, Xingle, Baumgartner, Michael, Bourdon, Pascal, De Feo, Riccardo, Noto, Tommaso Di, Dubost, Florian, Fava-Sanches, Augusto, Feng, Xue, Giroud, Corentin, Group, Inteneural, Hu, Minghui, Jaeger, Paul F., Kaiponen, Juhana, Klimont, Michał, Li, Yuexiang, Li, Hongwei, Lin, Yi, Loehr, Timo, Ma, Jun, Maier-Hein, Klaus H., Marie, Guillaume, Menze, Bjoern, Richiardi, Jonas, Rjiba, Saifeddine, Shah, Dhaval, Shit, Suprosanna, Tohka, Jussi, Urruty, Thierry, Walińska, Urszula, Yang, Xiaoping, Yang, Yunqiao, Yin, Yin, Velthuis, Birgitta K., and Kuijf, Hugo J.

Published
2021
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23. Prescribed Drug Use and Aneurysmal Subarachnoid Hemorrhage Incidence: A Drug-Wide Association Study

Author

Kanning, Jos P., Abtahi, Shahab, Schnier, Christian, Klungel, Olaf H., Geerlings, Mirjam I., Ruigrok, Ynte M., Kanning, Jos P., Abtahi, Shahab, Schnier, Christian, Klungel, Olaf H., Geerlings, Mirjam I., and Ruigrok, Ynte M.

Abstract

BACKGROUND AND OBJECTIVES: Current benefits of invasive intracranial aneurysm treatment to prevent aneurysmal subarachnoid hemorrhage (aSAH) rarely outweigh treatment risks. Most intracranial aneurysms thus remain untreated. Commonly prescribed drugs reducing aSAH incidence may provide leads for drug repurposing. We performed a drug-wide association study (DWAS) to systematically investigate the association between commonly prescribed drugs and aSAH incidence. METHODS: We defined all aSAH cases between 2000 and 2020 using International Classification of Diseases codes from the Secure Anonymised Information Linkage databank. Each case was matched with 9 controls based on age, sex, and year of database entry. We investigated commonly prescribed drugs (>2% in study population) and defined 3 exposure windows relative to the most recent prescription before index date (i.e., occurrence of aSAH): current (within 3 months), recent (3-12 months), and past (>12 months). A logistic regression model was fitted to compare drug use across these exposure windows vs never use, controlling for age, sex, known aSAH risk factors, and health care utilization. The family-wise error rate was kept at p < 0.05 through Bonferroni correction. RESULTS: We investigated exposure to 205 commonly prescribed drugs between 4,879 aSAH cases (mean age 61.4, 61.2% women) and 43,911 matched controls. We found similar trends for lisinopril and amlodipine, with a decreased aSAH risk for current use (lisinopril odds ratio [OR] 0.63, 95% CI 0.44-0.90, amlodipine OR 0.82, 95% CI 0.65-1.04) and an increased aSAH risk for recent use (lisinopril OR 1.30, 95% CI 0.61-2.78, amlodipine OR 1.61, 95% CI 1.04-2.48). A decreased aSAH risk in current use was also found for simvastatin (OR 0.78, 95% CI 0.64-0.96), metformin (OR 0.58, 95% CI 0.43-0.78), and tamsulosin (OR 0.55, 95% CI 0.32-0.93). By contrast, an increased aSAH risk was found for current use of warfarin (OR 1.35, 95% CI 1.02-1.79), venlafaxin

Published
2024

24. Coma in adult cerebral venous thrombosis: The BEAST study

Author

Neurologen, Brain, Circulatory Health, Ranjan, Redoy, Ken-Dror, Gie, Martinelli, Ida, Grandone, Elvira, Hiltunen, Sini, Lindgren, Erik, Margaglione, Maurizio, Duchez, Veronique Le Cam, Triquenot Bagan, Aude, Zedde, Marialuisa, Giannini, Nicola, Ruigrok, Ynte M., Worrall, Bradford B., Majersik, Jennifer J., Putaala, Jukka, Haapaniemi, Elena, Zuurbier, Susanna M., Brouwer, Matthijs C., Passamonti, Serena M., Abbattista, Maria, Bucciarelli, Paolo, Lemmens, Robin, Pappalardo, Emanuela, Costa, Paolo, Colombi, Marina, Aguiar de Sousa, Diana, Rodrigues, Sofia, Canhão, Patrícia, Tkach, Aleksander, Santacroce, Rosa, Favuzzi, Giovanni, Arauz, Antonio, Colaizzo, Donatella, Spengos, Kostas, Hodge, Amanda, Ditta, Reina, Pezzini, Alessandro, Coutinho, Jonathan M., Thijs, Vincent, Jood, Katarina, Tatlisumak, Turgut, Ferro, José M., Sharma, Pankaj, Neurologen, Brain, Circulatory Health, Ranjan, Redoy, Ken-Dror, Gie, Martinelli, Ida, Grandone, Elvira, Hiltunen, Sini, Lindgren, Erik, Margaglione, Maurizio, Duchez, Veronique Le Cam, Triquenot Bagan, Aude, Zedde, Marialuisa, Giannini, Nicola, Ruigrok, Ynte M., Worrall, Bradford B., Majersik, Jennifer J., Putaala, Jukka, Haapaniemi, Elena, Zuurbier, Susanna M., Brouwer, Matthijs C., Passamonti, Serena M., Abbattista, Maria, Bucciarelli, Paolo, Lemmens, Robin, Pappalardo, Emanuela, Costa, Paolo, Colombi, Marina, Aguiar de Sousa, Diana, Rodrigues, Sofia, Canhão, Patrícia, Tkach, Aleksander, Santacroce, Rosa, Favuzzi, Giovanni, Arauz, Antonio, Colaizzo, Donatella, Spengos, Kostas, Hodge, Amanda, Ditta, Reina, Pezzini, Alessandro, Coutinho, Jonathan M., Thijs, Vincent, Jood, Katarina, Tatlisumak, Turgut, Ferro, José M., and Sharma, Pankaj

Published
2024

25. Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study

Author

Neurologen, Brain, Circulatory Health, Ken-Dror, Gie, Martinelli, Ida, Grandone, Elvira, Hiltunen, Sini, Lindgren, Erik, Margaglione, Maurizio, Le Cam Duchez, Veronique, Triquenot, Aude B., Zedde, Marialuisa, Mancuso, Michelangelo, Ruigrok, Ynte M., Worrall, Bradford B., Majersik, Jennifer J., Putaala, Jukka, Haapaniemi, Elena, Zuurbier, Susanna, Brouwer, Matthijs C., Passamonti, Serena M., Abbattista, Maria, Bucciarelli, Paolo, Lemmens, Robin, Pappalardo, Emanuela, Costa, Paolo, Colombi, Marina, De Sousa, Diana Aguiar, Rodrigues, Sofia G., Canhao, Patrícia, Tkach, Aleksander, Santacroce, Rosa, Favuzzi, Giovanni, Arauz, Antonio, Colaizzo, Donatella, Spengos, Konstantinos, Hodge, Amanda, Ditta, Reina, Pezzini, Alessandro, Coutinho, Jonathan M., Thijs, Vincent N., Jood, Katarina, Pare, Guillaume, Tatlisumak, Turgut, Ferro, José M., Sharma, Pankaj, Neurologen, Brain, Circulatory Health, Ken-Dror, Gie, Martinelli, Ida, Grandone, Elvira, Hiltunen, Sini, Lindgren, Erik, Margaglione, Maurizio, Le Cam Duchez, Veronique, Triquenot, Aude B., Zedde, Marialuisa, Mancuso, Michelangelo, Ruigrok, Ynte M., Worrall, Bradford B., Majersik, Jennifer J., Putaala, Jukka, Haapaniemi, Elena, Zuurbier, Susanna, Brouwer, Matthijs C., Passamonti, Serena M., Abbattista, Maria, Bucciarelli, Paolo, Lemmens, Robin, Pappalardo, Emanuela, Costa, Paolo, Colombi, Marina, De Sousa, Diana Aguiar, Rodrigues, Sofia G., Canhao, Patrícia, Tkach, Aleksander, Santacroce, Rosa, Favuzzi, Giovanni, Arauz, Antonio, Colaizzo, Donatella, Spengos, Konstantinos, Hodge, Amanda, Ditta, Reina, Pezzini, Alessandro, Coutinho, Jonathan M., Thijs, Vincent N., Jood, Katarina, Pare, Guillaume, Tatlisumak, Turgut, Ferro, José M., and Sharma, Pankaj

Published
2024

26. Prediction of aneurysmal subarachnoid hemorrhage in comparison with other stroke types using routine care data

Author

Projectafdeling CVZ, Cardiovasculaire Epi Team 5, Brain, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Kanning, Jos P, van Os, Hendrikus J A, Rakers, Margot, Wermer, Marieke J H, Geerlings, Mirjam I, Ruigrok, Ynte M, Projectafdeling CVZ, Cardiovasculaire Epi Team 5, Brain, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Kanning, Jos P, van Os, Hendrikus J A, Rakers, Margot, Wermer, Marieke J H, Geerlings, Mirjam I, and Ruigrok, Ynte M

Published
2024

27. Prescribed Drug Use and Aneurysmal Subarachnoid Hemorrhage Incidence: A Drug-Wide Association Study

Author

Projectafdeling CVZ, Global Health, Circulatory Health, JC onderzoeksprogramma Methodologie, Cardiovasculaire Epi Team 5, Brain, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Kanning, Jos P, Abtahi, Shahab, Schnier, Christian, Klungel, Olaf H, Geerlings, Mirjam I, Ruigrok, Ynte M, Projectafdeling CVZ, Global Health, Circulatory Health, JC onderzoeksprogramma Methodologie, Cardiovasculaire Epi Team 5, Brain, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Kanning, Jos P, Abtahi, Shahab, Schnier, Christian, Klungel, Olaf H, Geerlings, Mirjam I, and Ruigrok, Ynte M

Published
2024

28. Gadolinium-enhanced intracranial aneurysm wall imaging and risk of aneurysm growth and rupture: a multicentre longitudinal cohort study

Author

Projectafdeling CVZ, Circulatory Health, Neurologen, Brain, MS Radiologie, van der Kamp, Laura T, Edjlali, Myriam, Naggara, Olivier, Matsushige, Toshinori, Bulters, Diederik O, Digpal, Ronneil, Zhu, Chengcheng, Saloner, David, Hu, Peng, Zhai, Xiaodong, Mossa-Basha, Mahmud, Tian, Bing, Sakamoto, Shigeyuki, Fu, Qichang, Ruigrok, Ynte M, Zhao, Huilin, Chen, Huijun, Rinkel, Gabriel J E, van der Schaaf, Irene C, Vergouwen, Mervyn D I, Projectafdeling CVZ, Circulatory Health, Neurologen, Brain, MS Radiologie, van der Kamp, Laura T, Edjlali, Myriam, Naggara, Olivier, Matsushige, Toshinori, Bulters, Diederik O, Digpal, Ronneil, Zhu, Chengcheng, Saloner, David, Hu, Peng, Zhai, Xiaodong, Mossa-Basha, Mahmud, Tian, Bing, Sakamoto, Shigeyuki, Fu, Qichang, Ruigrok, Ynte M, Zhao, Huilin, Chen, Huijun, Rinkel, Gabriel J E, van der Schaaf, Irene C, and Vergouwen, Mervyn D I

Published
2024

29. The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification

Author

MS Geriatrie, Researchgr. Systems Radiology, Cancer, Circulatory Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Unit Opleiding Geriatrie, MS Radiologie, Genetica Klinische Genetica, Brain, Neurologen, Mathijssen, Gini, van Valen, Evelien, de Jong, Pim A, Golüke, Nienke M S, van Maren, Emiel A, Snijders, Birgitta M G, Brilstra, Eva H, Ruigrok, Ynte M, Bakker, Susan, Goto, Renzo W, Emmelot-Vonk, Marielle H, Koek, Huiberdina L, MS Geriatrie, Researchgr. Systems Radiology, Cancer, Circulatory Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Unit Opleiding Geriatrie, MS Radiologie, Genetica Klinische Genetica, Brain, Neurologen, Mathijssen, Gini, van Valen, Evelien, de Jong, Pim A, Golüke, Nienke M S, van Maren, Emiel A, Snijders, Birgitta M G, Brilstra, Eva H, Ruigrok, Ynte M, Bakker, Susan, Goto, Renzo W, Emmelot-Vonk, Marielle H, and Koek, Huiberdina L

Published
2024

30. The effects of etidronate on brain calcifications in Fahr's disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial

Author

MS Geriatrie, Circulatory Health, Researchgr. Systems Radiology, Cancer, Infection & Immunity, Regenerative Medicine and Stem Cells, Apotheek KGO 2, Neurologen, Brain, Genetica Klinische Genetica, Revalidatie Medisch Volwassenen, MS Interne Geneeskunde, Snijders, Birgitta Mg, Mathijssen, Gini, Peters, Mike Jl, Emmelot-Vonk, Marielle H, de Jong, Pim A, Bakker, Susan, Crommelin, Heleen A, Ruigrok, Ynte M, Brilstra, Eva H, Schepers, Vera Pm, Spiering, Wilko, van Valen, Evelien, Koek, Huiberdina L, MS Geriatrie, Circulatory Health, Researchgr. Systems Radiology, Cancer, Infection & Immunity, Regenerative Medicine and Stem Cells, Apotheek KGO 2, Neurologen, Brain, Genetica Klinische Genetica, Revalidatie Medisch Volwassenen, MS Interne Geneeskunde, Snijders, Birgitta Mg, Mathijssen, Gini, Peters, Mike Jl, Emmelot-Vonk, Marielle H, de Jong, Pim A, Bakker, Susan, Crommelin, Heleen A, Ruigrok, Ynte M, Brilstra, Eva H, Schepers, Vera Pm, Spiering, Wilko, van Valen, Evelien, and Koek, Huiberdina L

Published
2024

31. Dietary habits and compliance with dietary guidelines in patients with established cardiovascular disease

Author

Interne Geneeskunde Vasculaire, Circulatory Health, Cardiometabolic Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Cardiovasculaire Epi Team 1, MS Interne Geneeskunde, Cardiologie, Team Medisch, Neurologen, Brain, Zorgeenheid Vaatchirurgie Medisch, Regenerative Medicine and Stem Cells, Unit Opleiding Aios, Bonekamp, Nadia E., Geleijnse, Johanna M., van der Schouw, Yvonne T., Dorresteijn, Jannick A.N., van der Meer, Manon G., Ruigrok, Ynte M., Teraa, Martin, Visseren, Frank L.J., Koopal, Charlotte, Cramer, Nathoe, van de Meer, de Meer, de Borst, Borst, Teraa, Bots, van Smeden, Smeden, Emmelot-Vonk, de Jong, Jong, Lely, van der Kaaij, der Kaaij, Kappelle, Ruigrok, Verhaar, Dorresteijn, Visseren, Interne Geneeskunde Vasculaire, Circulatory Health, Cardiometabolic Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Cardiovasculaire Epi Team 1, MS Interne Geneeskunde, Cardiologie, Team Medisch, Neurologen, Brain, Zorgeenheid Vaatchirurgie Medisch, Regenerative Medicine and Stem Cells, Unit Opleiding Aios, Bonekamp, Nadia E., Geleijnse, Johanna M., van der Schouw, Yvonne T., Dorresteijn, Jannick A.N., van der Meer, Manon G., Ruigrok, Ynte M., Teraa, Martin, Visseren, Frank L.J., Koopal, Charlotte, Cramer, Nathoe, van de Meer, de Meer, de Borst, Borst, Teraa, Bots, van Smeden, Smeden, Emmelot-Vonk, de Jong, Jong, Lely, van der Kaaij, der Kaaij, Kappelle, Ruigrok, Verhaar, Dorresteijn, and Visseren

Published
2024

33. Additional Relevant Intracranial Findings in Persons Screened with MR for Intracranial Aneurysms

Author

Projectafdeling CVZ, Neurologen, Brain, Circulatory Health, MS Radiologie, Opleiding Neurologie, van Wijngaarden, Philippine B, Rinkel, Gabriel J E, van der Schaaf, Irene C, Mensing, Liselore A, Ruigrok, Ynte M, Vergouwen, Mervyn D I, Projectafdeling CVZ, Neurologen, Brain, Circulatory Health, MS Radiologie, Opleiding Neurologie, van Wijngaarden, Philippine B, Rinkel, Gabriel J E, van der Schaaf, Irene C, Mensing, Liselore A, Ruigrok, Ynte M, and Vergouwen, Mervyn D I

Published
2024

35. Analysis of aneurysmal subarachnoid hemorrhage as a multistep process

Author

Neurologen, Brain, Circulatory Health, Genetic Risks, Ruigrok, Ynte M., Rinkel, Gabriel J.E., Chang, Han Sol, Hackenberg, Katharina A.M., Etminan, Nima, Veldink, Jan H., Neurologen, Brain, Circulatory Health, Genetic Risks, Ruigrok, Ynte M., Rinkel, Gabriel J.E., Chang, Han Sol, Hackenberg, Katharina A.M., Etminan, Nima, and Veldink, Jan H.

Published
2024

36. Hemodynamic Parameters in the Parent Arteries of Unruptured Intracranial Aneurysms Depend on Aneurysm Size and Are Different Compared to Contralateral Arteries: A 7 Tesla 4D Flow MRI Study

Author

Highfield Research Group, Onderzoek Beeld, Researchgr. Hart-brein as., Brain, Circulatory Health, Cardiologie onderzoek 2, Cancer, Regenerative Medicine and Stem Cells, Neurologen, MS Radiologie, van Tuijl, Rick J., Timmins, Kimberley M., Velthuis, Birgitta K., van Ooij, Pim, Zwanenburg, Jaco J.M., Ruigrok, Ynte M., van der Schaaf, Irene C., Highfield Research Group, Onderzoek Beeld, Researchgr. Hart-brein as., Brain, Circulatory Health, Cardiologie onderzoek 2, Cancer, Regenerative Medicine and Stem Cells, Neurologen, MS Radiologie, van Tuijl, Rick J., Timmins, Kimberley M., Velthuis, Birgitta K., van Ooij, Pim, Zwanenburg, Jaco J.M., Ruigrok, Ynte M., and van der Schaaf, Irene C.

Published
2024

37. Performance of a Diagnostic Model for the Presence of Unruptured Intracranial Aneurysms in the General Population.

Author

Klieverik, Vita M., Roozenbeek, Bob, Cras, Tim Y., Vernooij, Meike W., Geerlings, Mirjam I., Bos, Daniel, and Ruigrok, Ynte M.

Subjects
INTRACRANIAL aneurysm ruptures, INTRACRANIAL aneurysms, HYPERTENSION, MAGNETIC resonance imaging, SUBARACHNOID hemorrhage
Abstract

Introduction: The prevalence of unruptured intracranial aneurysms (UIAs) in the general population is 3%. Aneurysmal subarachnoid hemorrhage can be prevented by screening for UIAs followed by monitoring and, if needed, preventive neurosurgical or endovascular treatment of identified UIAs. Therefore, we developed a diagnostic model for the presence of UIAs in the general population to help identify persons at high risk of having UIAs. Methods: Between 2005 and 2015, participants from the population-based Rotterdam Study underwent brain magnetic resonance imaging at 1.5 T, on which the presence of incidental UIAs was evaluated. We developed a multivariable logistic regression model using candidate diagnostic markers that were selected based on the literature, including sex, age, hypertension, smoking, hypercholesterolemia, diabetes, alcohol, and their interactions. We corrected for overfitting using bootstrapping. Model performance was assessed with discrimination, calibration, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: 5,835 persons were included (55.0% women, mean age 64.9 ± 10.9 years) with a 2.2% UIA prevalence. Sex, age, hypertension, smoking, diabetes, and interactions of sex with age, hypertension, and smoking were independent diagnostic markers. The resulting model had a c-statistic of 0.65 (95% confidence interval [CI]: 0.60–0.68) and 56% sensitivity, 52% specificity, 98% PPV, and 3% NPV for UIA presence at a cutoff value of 4%. Because of interactions with sex, additional models for men and women separately were developed. The model for men had a c-statistic of 0.70 (95% CI: 0.62–0.78) with age, hypertension, and smoking as diagnostic markers and comparable additional performance values as for the full model. The model for women had a c-statistic of 0.58 (95% CI: 0.52–0.63) with smoking as the only diagnostic marker. Conclusion: Our diagnostic model had insufficient performance to help identify persons at high risk of having UIAs in the general population. Rather, it provides insight in risk factors contributing to UIA risk and shows that these may be in part sex-specific. Plain Language Summary: A burst of a blood vessel in the brain, also known as a ruptured intracranial aneurysm, causes a severe and often fatal type of stroke (aneurysmal subarachnoid hemorrhage). When such an aneurysm has not ruptured yet, it is called an unruptured intracranial aneurysm (UIA). Approximately 3% of persons in the general population have a UIA. We developed models to help identify persons in the general population at high risk of having a UIA. These models show which person characteristics predict the risk of having a UIA. We developed a model for the whole general population and for men and women separately. We found that in the whole general population, female sex, higher age, high blood pressure, and smoking increased the risk of having a UIA, while diabetes decreased this risk. For men separately, only higher age, high blood pressure, and smoking increased the risk of having a UIA. For women separately, only smoking increased the risk of having a UIA. However, the models had insufficient performance to help identify persons at high risk of having a UIA from other persons in the general population. Rather, they provide insight into risk factors contributing to UIA risk and show that these may be in part sex-specific. [ABSTRACT FROM AUTHOR]

Published
2024
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40. Coma in adult cerebral venous thrombosis: The BEAST study.

Author

Ranjan, Redoy, Ken‐Dror, Gie, Martinelli, Ida, Grandone, Elvira, Hiltunen, Sini, Lindgren, Erik, Margaglione, Maurizio, Duchez, Veronique Le Cam, Triquenot Bagan, Aude, Zedde, Marialuisa, Giannini, Nicola, Ruigrok, Ynte M., Worrall, Bradford B., Majersik, Jennifer J., Putaala, Jukka, Haapaniemi, Elena, Zuurbier, Susanna M., Brouwer, Matthijs C., Passamonti, Serena M., and Abbattista, Maria

Subjects
CEREBRAL embolism & thrombosis, VENOUS thrombosis, RECEIVER operating characteristic curves, COMA, SINUS thrombosis
Abstract

Background and purpose: Coma is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT. Methods: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with <10% missing data in univariate analysis were considered for the multivariate logistic regression model. Results: Of the 596 adult patients with CVT (75.7% women), 53 (8.9%) patients suffered coma. Despite being a female‐predominant disease, the prevalence of coma was higher among men than women (13.1% vs. 7.5%, p = 0.04). Transverse sinus thrombosis was least likely to be associated with coma (23.9% vs. 73.3%, p < 0.001). The prevalence of superior sagittal sinus thrombosis was higher among men than women in the coma sample (73.6% vs. 37.5%, p = 0.01). Men were significantly older than women, with a median (interquartile range) age of 51 (38.5–60) versus 40 (33–47) years in the coma (p = 0.04) and 44.5 (34–58) versus 37 (29–48) years in the non‐coma sample (p < 0.001), respectively. Furthermore, an age‐ and superior sagittal sinus‐adjusted multivariate logistic regression model found male sex (odds ratio = 1.8, 95% confidence interval [CI] = 1.0–3.4, p = 0.04) to be an independent predictor of coma in CVT, with an area under the receiver operating characteristic curve of 0.61 (95% CI = 0.52–0.68, p = 0.01). Conclusions: Although CVT is a female‐predominant disease, men were older and nearly twice as likely to suffer from coma than women. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Serial Quality of Life Assessment around Screening for Familial Intracranial Aneurysms: A Prospective Cohort Study.

Author

Mensing, Liselore A., Atash, Keneshka, Rinkel, Gabriel J.E., and Ruigrok, Ynte M.

Subjects
INTRACRANIAL aneurysms, SUBARACHNOID hemorrhage, MEDICAL screening, SOCIAL participation, QUALITY of life
Abstract

Introduction: Screening for intracranial aneurysms (IAs) is cost-effective in first-degree relatives of aneurysmal subarachnoid haemorrhage patients, but its psychosocial impact is largely unknown. Patients and Methods: A consecutive series of persons aged 20–70 years visiting the University Medical Centre Utrecht for first screening for familial IA was approached between 2017 and 2020. E-questionnaires were administered at six time points, consisting of the EQ-5D for health-related quality of life (QoL), HADS for emotional functioning, and USER-P for social participation. QoL outcomes were compared with the general population and between participants with a positive and negative screening for IA. Predictors of QoL outcomes were assessed with linear mixed effects models. Results: 105 participants from 75 families were included; in 10 (10%), an IA was found. During the first year after screening, we found no negative effect on QoL, except for a temporary decrease in QoL 6 months after screening in participants with a positive screen (EQ-5D −11.3 [95% CI: −21.7 to −0.8]). Factors associated with worse QoL were psychiatric disease (EQ-5D −10.3 [95% CI: −15.1 to −5.6]), physical complaints affecting mood (EQ-5D −8.1 [95% CI: −11.7 to −4.4]), and a passive coping style (EQ-5D decrease per point increase on the Utrecht Coping List −1.1 [95% CI: −1.5 to −0.6]). Discussion and Conclusion: We did not find a lasting negative effect on QoL during the first year after screening for familial IA. Predictors for a worse QoL were psychiatric disease, physical complaints affecting mood, and a passive coping style. This information can be used in counselling about familial IA screening. [ABSTRACT FROM AUTHOR]

Published
2024
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43. Data mining information from electronic health records produced high yield and accuracy for current smoking status

Author

van Solinge, Wouter, Hoefer, Imo, Haitjema, Saskia, de Groot, Mark, Blasse, Enja, Asselbergs, Folkert W., Nathoe, Hendrik M., de Borst, Gert-Jan, Bots, Michiel L., Geerlings, Mirjam I., Emmelot, Marielle H., de Jong, Pim A., Leiner, Tim, Lely, A. Titia, van der Kaaij, Niels P., Kappelle, L. Jaap, Ruigrok, Ynte M., Verhaar, Marianne C., Visseren, Frank L.J., Westerink, Jan, Groenhof, T. Katrien J., Koers, Laurien R., and Grobbee, Diederick E.

Published
2020
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45. The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification

Author

Mathijssen, Gini, primary, van Valen, Evelien, additional, de Jong, Pim A., additional, Golüke, Nienke M. S., additional, van Maren, Emiel A., additional, Snijders, Birgitta M. G., additional, Brilstra, Eva H., additional, Ruigrok, Ynte M., additional, Bakker, Susan, additional, Goto, Renzo W., additional, Emmelot-Vonk, Marielle H., additional, and Koek, Huiberdina L., additional

Published
2024
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47. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie

Published
2022
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49. Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Author

Farlow, Janice L, Lin, Hai, Sauerbeck, Laura, Lai, Dongbing, Koller, Daniel L, Pugh, Elizabeth, Hetrick, Kurt, Ling, Hua, Kleinloog, Rachel, van der Vlies, Pieter, Deelen, Patrick, Swertz, Morris A, Verweij, Bon H, Regli, Luca, Rinkel, Gabriel JE, Ruigrok, Ynte M, Doheny, Kimberly, Liu, Yunlong, Broderick, Joseph, Foroud, Tatiana, and FIA Study Investigators

Subjects
FIA Study Investigators, Humans, Intracranial Aneurysm, Genetic Predisposition to Disease, Membrane Proteins, Cohort Studies, Chromosome Mapping, Pedigree, Sequence Analysis, DNA, Computational Biology, Base Sequence, Phenotype, Molecular Sequence Data, Genetic Variation, Exome, Sequence Analysis, DNA, General Science & Technology
Abstract

Genetic risk factors for intracranial aneurysm (IA) are not yet fully understood. Genomewide association studies have been successful at identifying common variants; however, the role of rare variation in IA susceptibility has not been fully explored. In this study, we report the use of whole exome sequencing (WES) in seven densely-affected families (45 individuals) recruited as part of the Familial Intracranial Aneurysm study. WES variants were prioritized by functional prediction, frequency, predicted pathogenicity, and segregation within families. Using these criteria, 68 variants in 68 genes were prioritized across the seven families. Of the genes that were expressed in IA tissue, one gene (TMEM132B) was differentially expressed in aneurysmal samples (n=44) as compared to control samples (n=16) (false discovery rate adjusted p-value=0.023). We demonstrate that sequencing of densely affected families permits exploration of the role of rare variants in a relatively common disease such as IA, although there are important study design considerations for applying sequencing to complex disorders. In this study, we explore methods of WES variant prioritization, including the incorporation of unaffected individuals, multipoint linkage analysis, biological pathway information, and transcriptome profiling. Further studies are needed to validate and characterize the set of variants and genes identified in this study.

Published
2015

50. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Author

Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K., Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A., Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L., Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M., Coleman, Dawn M., d’Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z., Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C., Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, Amouyel, Philippe, De Buyzere, Marc L., Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L., Olin, Jeffrey W., Piwonski, Jerzy, Rietzschel, Ernst R., Ruigrok, Ynte M., Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J., Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C., Ganesh, Santhi K., and Bouatia-Naji, Nabila

Published
2021
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