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251. The French connection. Provenance research and the virtual reconstruction of historical libraries à la française

Author: Bos, J., Claeyssens, S., Blom, H.M.C.W., Bos, J., Claeyssens, S., and Blom, H.M.C.W.
Abstract: Item does not contain fulltext
Published: 2021

252. A Contemporary Investigation of NTFS File Fragmentation

Author: Meer, V. van der, Jonker, H., Bos, J., Meer, V. van der, Jonker, H., and Bos, J.
Abstract: Contains fulltext : 230703.pdf (preprint version ) (Open Access)
Published: 2021

253. Role of club doctors in the mental health management of Australian rules football players: a Delphi study

Author: Weber, B, Bos, J, Clancy, Elizabeth, Menon, R, Cross, T, Hall, Kate, Weber, B, Bos, J, Clancy, Elizabeth, Menon, R, Cross, T, and Hall, Kate
Abstract: Professional team athletes experience a range of mental health problems, both sports and non-sports related. However, there is limited information available for those charged with responsibility for managing these mental health conditions, particularly within the context of professional sporting clubs. This paper reports on consensus findings from a study of club doctors, who are primary care providers for professional team athletes within a specific code, the Australian Football League (AFL). Drawing on findings from a systematic literature search, a two-round Delphi procedure was used to develop a consensus on best practice for managing mental health conditions for club doctors as primary care providers for professional team athletes. Participants in this study were current and former club doctors employed in professional AFL clubs across Australia, with 28 doctors participating across two survey rounds. Overall, 77 statements were presented, with 50 endorsed as essential or important by ≥ 80% of the participants across the two rounds. Primary themes across nine domains include: (1) Prevention and Mental Health Promotion Activities; (2) Screening; (3) Engaging External Specialists; (4) Duty of Care; (5) Treatment: Assessment, Treatment and Case Coordination; (6) Communication; (7) Confidentiality; (8) Sleep Management and (9) Substance Use Management. This study is the first to offer club doctors working in professional team settings consensus guidelines for the management of mental health conditions, and the opportunity for greater clarification and consistency in role delivery.
Published: 2021

254. Does it pay to be proactive and prosocial?: How personal characteristics affect networking actions of entrepreneurs and their social capital

Author: Bos, J. and Bos, J.
Published: 2021

255. A Randomised Controlled Trial of Inhibitory Control Training for Smoking Cessation: Outcomes, Mediators and Methodological Considerations

Author: Hughes, Laura, Hayden, Melissa, Bos, J, Lawrence, NS, Youssef, George, Borland, R, Staiger, Petra, Hughes, Laura, Hayden, Melissa, Bos, J, Lawrence, NS, Youssef, George, Borland, R, and Staiger, Petra
Abstract: Objective: Inhibitory control training (ICT) has shown promise for improving health behaviours, however, less is known about its mediators of effectiveness. The current paper reports whether ICT reduces smoking-related outcomes such as craving and nicotine dependence, increases motivation to quit and whether reductions in smoking or craving are mediated by response inhibition or a devaluation of smoking stimuli.Method: Adult smokers (minimum 10 cigarettes per day; N = 107, Mage = 46.15 years, 57 female) were randomly allocated to receive 14 days of smoking-specific ICT (named INST; a go/no-go task where participants were trained to not respond to smoking stimuli) or active control training (participants inhibited responding toward neutral stimuli). Participants were followed up to 3-months post-intervention. This trial was preregistered (Australian and New Zealand Clinical Trials Registry ID: ACTRN12617000252314; URL: https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=370204).Results: There were no significant differences between ICT and active control training groups. Specifically, participants in both groups showed significant reductions in craving, nicotine dependence, motivation and a devaluation (reduced evaluation) of smoking-stimuli up to 3-months follow-up compared to baseline. Inhibition and devaluation of smoking stimuli did not act as mediators. Devaluation of smoking stimuli was an independent predictor of smoking and craving at follow-up.Conclusion: Inhibitory control training (ICT) was no more effective at reducing smoking-related outcomes compared to the active control group, however, significant improvements in craving, dependence indicators and evaluation o
Published: 2021

256. COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

Author: Abdukahil, SA, Abe, R, Abel, L, Absil, L, Acker, A, Adachi, S, Adam, E, Adriao, D, Ainscough, K, Hssain, AA, Tamlihat, YA, Akimoto, T, Al-Dabbous, T, Al-Fares, A, Al Qasim, E, Alalqam, R, Alex, B, Alexandre, K, Alfoudri, H, Alidjnou, KE, Aliudin, J, Allavena, C, Allou, N, Alves, J, Alves, R, Amaral, M, Ammerlaan, H, Ampaw, P, Andini, R, Andrejak, C, Angheben, A, Angoulvant, F, Ansart, S, Antonelli, M, De Brito, CAA, Arabi, Y, Aragao, I, Arcadipane, A, Arenz, L, Arlet, J-B, Arnold-Day, C, Arora, L, Artaud-Macari, E, Asensio, A, Assie, JB, Atique, A, Auchabie, J, Aumaitre, H, Azemar, L, Azoulay, C, Bach, B, Bachelet, D, Baillie, JK, Bak, E, Bakakos, A, Banisadr, F, Barbalho, R, Barclay, WS, Barnikel, M, Barrelet, A, Barrigoto, C, Basmaci, R, Rincon, DFB, Bedossa, A, Behilill, S, Beljantsev, A, Bellemare, D, Beltrame, A, Beluze, M, Benech, N, Benkerrou, D, Bennett, S, Bento, L, Berdal, J-E, Bergeaud, D, Bertolino, L, Bessis, S, Bevilcaqua, S, Bhavsar, K, Bin Humaid, F, Bissuel, F, Biston, P, Bitker, L, Blanco-Schweizer, P, Blot, M, Boccia, F, Bogaert, D, Bompart, F, Booth, G, Borges, D, Borie, R, Bos, J, Bosse, HM, Botelho-Nevers, E, Bouadma, L, Bouchaud, O, Bouchez, S, Bouhmani, D, Bouhour, D, Bouiller, K, Bouillet, L, Bouisse, C, Boureau, A-S, Bouscambert, M, Bouziotis, J, Boxma, B, Boyer-Besseyre, M, Boylan, M, Braga, C, Brandenburger, T, Brazzi, L, Breen, D, Breen, P, Brickell, K, Brozzi, N, Buchtele, N, Buesaquillo, C, Bugaeva, P, Buisson, M, Burhan, E, Bustos, IG, Butnaru, D, Carcel, S, Cabie, A, Cabral, S, Caceres, E, Callahan, M, Calligy, K, Calvache, JA, Camoes, J, Campana, V, Campbell, P, Canepa, C, Cantero, M, Caraux-Paz, P, Cardoso, F, Cardoso, S, Carelli, S, Carlier, N, Carney, G, Carpenter, C, Carret, M-C, Carrier, FM, Carson, G, Casanova, M-L, Cascao, M, Casimiro, J, Cassandra, B, Castaneda, S, Castanheira, N, Castor-Alexandre, G, Castrillon, H, Castro, I, Catarino, A, Catherine, F-X, Cavalin, R, Cavalli, GG, Cavayas, A, Ceccato, A, Cervantes-Gonzalez, M, Chair, A, Chakveatze, C, Chan, A, Chand, M, Chas, J, Chassin, C, Chen, A, Chen, Y-S, Cheng, MP, Cheret, A, Chiarabini, T, Chica, J, Chirouze, C, Chiumello, D, Cho, HJ, Cho, SM, Cholley, B, Cidade, JP, Herreros, JMC, Citarella, BW, Ciullo, A, Clarke, J, Clohisey, S, Codan, C, Cody, C, Coelho, A, Colin, G, Collins, M, Colombo, SM, Combs, P, Connelly, JP, Connor, M, Conrad, A, Contreras, S, Cooke, GS, Copland, M, Cordel, H, Corley, A, Cormican, S, Cornelis, S, Corpuz, AJ, Corvaisier, G, Couffignal, C, Couffin-Cadiergues, S, Courtois, R, D'Orleans, CC, Croonen, S, Crowl, G, Crump, J, Cruz, C, Csete, M, Cucino, A, Cullen, C, Cummings, M, Curley, G, Curlier, E, Custodio, P, D'Aragon, F, Filipe, ADS, Da Silveira, C, D'Ortenzio, E, Dabaliz, A-A, Dagens, AB, Dalton, H, Dalton, J, Daneman, N, Dankwa, EA, Dantas, J, De Castro, N, De Mendoza, D, Franca, RFDO, De Rosa, R, De Silva, T, De Vries, P, Dean, D, Debray, M-P, Dechert, W, Deconninck, L, Decours, R, Delacroix, I, Delavigne, K, Deligiannis, I, Dell'amore, A, Delobel, P, Demonchy, E, Denis, E, Deplanque, D, Depuydt, P, Desai, M, Descamps, D, Desvallee, M, Dewayanti, SR, Diallo, A, Diamantis, S, Dias, A, Diaz, JJD, Diaz, R, Didier, K, Diehl, J-L, Dieperink, W, Dimet, J, Dinot, V, Diouf, A, Dishon, Y, Djossou, F, Docherty, AB, Dong, A, Donnelly, CA, Donnelly, M, Donohue, C, Dorival, C, Douglas, JJ, Douma, R, Dournon, N, Downer, T, Downing, M, Drake, T, Dubee, V, Dubos, F, Ducancelle, A, Dudman, S, Dunning, J, Mangoni, ED, Duranti, S, Durham, L, Dussol, B, Duval, X, Dyrhol-Riise, AM, Eira, C, Vidal, JE, El Sanharawi, M, Elapavaluru, S, Elharrar, B, Elkheir, N, Ellerbroek, J, Ellis, R, Eloy, P, Elshazly, T, Enderle, I, Engelmann, I, Enouf, V, Epaulard, O, Esperatti, M, Esperou, H, Esposito-Farese, M, Estevao, J, Etienne, M, Ettalhaoui, N, Everding, AG, Evers, M, Fabre, I, Faheem, A, Fahy, A, Fairfield, CJ, Faria, P, Farshait, N, Fatoni, AZ, Faure, K, Fayed, M, Feely, N, Fernandes, J, Fernandes, M, Fernandes, S, Ferrao, J, Devouge, EF, Ferraz, M, Ferreira, B, Ferrer-Roca, R, Figueiredo-Mello, C, Flateau, C, Fletcher, T, Florio, LL, Foley, C, Fomin, V, Fonseca, CD, Fonseca, T, Fontela, P, Forsyth, S, Foti, G, Fourn, E, Fowler, R, Franch-Llasat, D, Fraser, C, Fraser, J, Freire, MV, Ribeiro, AF, Friedrich, C, Fry, S, Fuentes, N, Fukuda, M, Gomez-Junyent, J, Gaborieau, V, Gachet, B, Gaci, R, Gagliardi, M, Gagnard, J-C, Gagneux-Brunon, A, Gaiao, S, Gallagher, P, Curto, EG, Gamble, C, Garan, A, Garcia-Gallo, E, Garcia, R, Garot, D, Garrait, V, Gault, N, Gavin, A, Gaymard, A, Gebauer, J, Morlaes, LG, Germano, N, Ghosn, J, Giani, M, Giaquinto, C, Gibson, J, Gigante, T, Gilg, M, Giordano, G, Girvan, M, Gissot, V, Giwangkancana, G, Glikman, D, Glybochko, P, Gnall, E, Goco, G, Goehringer, F, Goepel, S, Goffard, J-C, Golob, J, Gorenne, I, Goujard, C, Goulenok, T, Grable, M, Grandin, EW, Granier, P, Grasselli, G, Green, CA, Greenhalf, W, Greffe, S, Grieco, DL, Griffee, M, Griffiths, F, Grigoras, I, Groenendijk, A, Lordemann, AG, Gruner, H, Gu, Y, Guedj, J, Guellec, D, Guerguerian, A-M, Guerreiro, D, Guery, R, Guillaumot, A, Guilleminault, L, Guimard, T, Haber, D, Hakak, S, Hall, M, Halpin, S, Hamer, A, Hamidfar, R, Hammond, T, Hardwick, H, Harley, K, Harrison, EM, Harrison, J, Hays, L, Heerman, J, Heggelund, L, Hendry, R, Hennessy, M, Henriquez-Trujillo, A, Hentzien, M, Hernandez-Montfort, J, Hidayah, A, Higgins, D, Higgins, E, Hinton, S, Hipolito-Reis, A, Hiraiwa, H, Hiscox, JA, Ho, AYW, Hoctin, A, Hoffmann, I, Hoiting, O, Holt, R, Holter, JC, Horby, P, Horcajada, JP, Hoshino, K, Hough, CL, Hsu, JM-Y, Hulot, J-S, Ijaz, S, Illes, H-G, Inacio, H, Dominguez, CI, Iosifidis, E, Irvine, L, Isgett, S, Isidoro, T, Isnard, M, Itai, J, Ivulich, D, Jaafoura, S, Jabot, J, Jackson, C, Jamieson, N, Jaureguiberry, S, Javidfar, J, Jean-Benoit, Z, Jego, F, Jenum, S, Sotomayor, RJ, Garcia, RNJ, Joseph, C, Joseph, M, Jouvet, P, Jung, H, Kafif, O, Kaguelidou, F, Kali, S, Kalomoiri, S, Kandamby, DH, Kandel, C, Kant, R, Kartsonaki, C, Kasugai, D, Katz, K, Johal, SK, Keating, S, Kelly, A, Kelly, S, Kennedy, L, Kennon, K, Kerroumi, Y, Kestelyn, E, Khalid, I, Khalil, A, Khan, C, Khan, I, Kho, ME, Khoo, S, Kida, Y, Kiiza, P, Kildal, AB, Kimmoun, A, Kindgen-Milles, D, Kitamura, N, Klenerman, P, Bekken, GK, Knight, S, Kobbe, R, Vasconcelos, MK, Korten, V, Kosgei, C, Krawczyk, K, Vecham, PK, Kumar, D, Kurtzman, E, Kutsogiannis, D, Kyriakoulis, K, L'her, E, Lachatre, M, Lacoste, M, Laffey, JG, Lagrange, M, Laine, F, Lambert, M, Lamontagne, F, Langelot-Richard, M, Lantang, EY, Lanza, M, Laouenan, C, Laribi, S, Lariviere, D, Launay, O, Lavie-Badie, Y, Law, A, Le Bihan, C, Le Bris, C, Le Coustumier, E, Le Falher, G, Le Gac, S, Le Hingrat, Q, Le Marechal, M, Le Mestre, S, Le Moing, V, Le Nagard, H, Le Turnier, P, Leon, R, Le, M, Santos, ML, Leal, E, Lee, J, Lee, SH, Lee, T, Leeming, G, Lefebvre, B, Lefebvre, L, Lefevre, B, Lellouche, F, Lemaignen, A, Lemee, V, Lemmink, G, Leone, M, Lepiller, Q, Lescure, F-X, Lesens, O, Lesouhaitier, M, Levy-Marchal, C, Levy, B, Levy, Y, Bassi, GL, Liang, J, Lim, WS, Lina, B, Lind, A, Lingas, G, Lion-Daolio, S, Liu, K, Loforte, A, Lolong, N, Lopes, D, Lopez-Colon, D, Loubet, P, Lucet, JC, Luna, CM, Lungu, O, Luong, L, Luton, D, Lyons, R, Mueller, F, Mueller, KE, Maasikas, O, Macdonald, S, Machado, M, Macheda, G, Sanchez, JM, Madhok, J, Mahieu, R, Mahy, S, Maier, LS, Maillet, M, Maitre, T, Malfertheiner, M, Malik, N, Maltez, F, Malvy, D, Mambert, M, Manda, V, Mandei, JM, Manning, E, Manuel, A, Malaque, CMSA, Marino, F, Mariz, CDA, Eid, CM, Marques, A, Marquis, C, Marsh, B, Marsh, L, Marshall, J, Martelli, CT, Martin-Blondel, G, Martin-Loeches, I, Martin-Quiros, A, Martin, D-A, Martin, E, Martinot, M, Rego, CM, Martins, A, Martins, J, Martucci, G, Marwali, EM, Jimenez, JFM, Maslove, D, Mason, S, Matan, M, Mathieu, D, Mattei, M, Matulevics, R, Maulin, L, Mc Evoy, N, McCarthy, A, McCloskey, C, McConnochie, R, McDermott, S, McDonald, S, McElwee, S, McEvoy, N, McGeer, A, McGuinness, N, McLean, KA, McNicholas, B, Meaney, E, Mear-Passard, C, Mechlin, M, Mele, F, Menon, K, Mentre, F, Mentzer, AJ, Mercier, N, Merckx, A, Mergler, B, Merson, L, Mesquita, A, Meybeck, A, Meynert, AM, Meyssonnier, V, Meziane, A, Mezidi, M, Michelanglei, C, Mihnovits, V, Maldonado, HM, Mone, M, Moin, A, Molina, D, Molinos, E, Monteiro, A, Montes, C, Montrucchio, G, Moore, S, Moore, SC, Morales-Cely, L, Moro, L, Tutillo, DRM, Motos, A, Mouquet, H, Perrot, CM, Moyet, J, Mullaert, J, Munblit, D, Murphy, D, Murris, M, Myrodia, DM, N'guyen, Y, Neant, N, Neb, H, Nekliudov, NA, Neto, R, Neumann, E, Neves, B, Ng, PY, Ng, WY, Choileain, ON, Nichol, A, Nonas, S, Noret, M, Norman, L, Notari, A, Noursadeghi, M, Nowicka, K, Nseir, S, Nunez, JI, Nyamankolly, E, O'Donnell, M, O'Hearn, K, O'Neil, C, Occhipinti, G, Ogston, T, Ogura, T, Oh, T-H, Ohshimo, S, Oinam, BCS, Oliveira, AP, Oliveira, J, Olliaro, P, Ong, DSY, Oosthuyzen, W, Openshaw, PJM, Orozco-Chamorro, CM, Orquera, A, Osatnik, J, Ouamara, N, Ouissa, R, Owyang, C, Oziol, E, Povoas, D, Pagadoy, M, Pages, J, Palacios, M, Palmarini, M, Panarello, G, Panda, PK, Panigada, M, Pansu, N, Papadopoulos, A, Parra, B, Pasquier, J, Patauner, F, Patrao, L, Paul, C, Paul, M, Paulos, J, Paxton, WA, Payen, J-F, Pearse, I, Peek, GJ, Peelman, F, Peiffer-Smadja, N, Peigne, V, Pejkovska, M, Peltan, ID, Pereira, R, Perez, D, Perpoint, T, Pesenti, A, Petrousova, L, Petrov-Sanchez, V, Peytavin, G, Pharand, S, Piagnerelli, M, Picard, W, Picone, O, Piel-Julian, M, Pierobon, C, Pimentel, C, Piroth, L, Pius, R, Piva, S, Plantier, L, Plotkin, D, Poissy, J, Pokorska-Spiewak, M, Poli, S, Pollakis, G, Popielska, J, Postma, DF, Povoa, P, Powis, J, Prapa, S, Prebensen, C, Preiser, J-C, Prestre, V, Price, N, Prinssen, A, Pritchard, MG, Proenca, L, Puechal, O, Purcell, G, Quesada, L, Quist-Paulsen, E, Quraishi, M, Ratsep, I, Rossler, B, Rabaud, C, Rafiq, M, Ragazzo, G, Rainieri, F, Ramakrishnan, N, Ramanathan, K, Rammaert, B, Rapp, C, Rasmin, M, Rau, C, Rebaudet, S, Redl, S, Reeve, B, Reid, L, Reis, R, Remppis, J, Remy, M, Renk, H, Resende, L, Resseguier, A-S, Revest, M, Rewa, O, Reyes, LF, Richardson, D, Richier, L, Riera, J, Rios, AL, Rishu, A, Rispal, P, Risso, K, Nunez, MAR, Rizer, N, Roberto, A, Roberts, S, Robertson, DL, Robineau, O, Roche-Campo, F, Rodari, P, Rodeia, S, Abreu, JR, Roilides, E, Rojek, A, Romaru, J, Roncon-Albuquerque, R, Roriz, M, Rosa-Calatrava, M, Rose, M, Rosenberger, D, Rossanese, A, Rossignol, B, Rossignol, P, Roy, C, Roze, B, Russell, CD, Ryckaert, S, Holten, AR, Choez, XS, Saba, I, Sadat, M, Saidani, N, Salazar, L, Sales, G, Sallaberry, S, Salvator, H, Sanchez-Miralles, A, Sanchez, O, Sancho-Shimizu, V, Sandhu, G, Sandulescu, O, Santos, M, Sarfo-Mensah, S, Sarton, B, Saviciute, E, Savvidou, P, Scarsbrook, J, Schermer, T, Scherpereel, A, Schneider, M, Schroll, S, Schwameis, M, Scott-Brown, J, Scott, JT, Sedillot, N, Seitz, T, Semaille, C, Semple, MG, Senneville, E, Sequeira, F, Sequeira, T, Shadowitz, E, Shamsah, M, Sharma, P, Shaw, CA, Shaw, V, Shiban, N, Shime, N, Shimizu, H, Shimizu, K, Shrapnel, S, Shum, HP, Mohammed, NS, Sigfrid, L, Silva, C, Silva, MJ, Sin, WC, Skogen, V, Smith, S, Smood, B, Smyth, M, Snacken, M, So, D, Solis, M, Solomon, J, Solomon, T, Somers, E, Sommet, A, Song, MJ, Song, R, Song, T, Sonntagbauer, M, Soum, E, Uva, MS, Sousa, M, Souza-Dantas, V, Sperry, A, Sriskandan, S, Staudinger, T, Stecher, S-S, Stienstra, Y, Stiksrud, B, Streinu-Cercel, A, Strudwick, S, Stuart, A, Stuart, D, Sultana, A, Summers, C, Surovcova, M, Svistunov, AA, Syrigos, K, Sztajnbok, J, Szuldrzynski, K, Teoule, F, Tabrizi, S, Tagherset, L, Talarek, E, Taleb, S, Talsma, J, Van Tan, L, Tanaka, H, Tanaka, T, Taniguchi, H, Tardivon, C, Tattevin, P, Taufik, MA, Tedder, RS, Teixeira, J, Tellier, M-C, Terpstra, P, Terrier, O, Terzi, N, Tessier-Grenier, H, Thibault, V, Thiberville, S-D, Thill, B, Thompson, AAR, Thompson, S, Thomson, D, Thomson, EC, Thuy, DB, Thwaites, RS, Timashev, PS, Timsit, J-F, Vijayaraghavan, BKT, Toki, M, Tonby, K, Santos-Olmo, RMT, Torres, A, Torres, M, Trioux, T, Trieu, HT, Tromeur, C, Trontzas, I, Troost, J, Trouillon, T, Tual, C, Tubiana, S, Tuite, H, Turtle, LCW, Twardowski, P, Uchiyama, M, Ullrich, R, Uribe, A, Usman, A, Val-Flores, L, Van de Velde, S, Van den Berge, M, Van der Feltz, M, Van der Vekens, N, Van der Voort, P, Van der Werf, S, Van Dyk, M, Van Gulik, L, Van Hattem, J, Van Lelyveld, S, Van Netten, C, Vanel, N, Vanoverschelde, H, Vauchy, C, Veislinger, A, Velazco, J, Ventura, S, Verbon, A, Vieira, C, Villanueva, JA, Villar, J, Villeneuve, P-M, Villoldo, A, Chau, NVV, Visseaux, B, Visser, H, Vuorinen, A, Vuotto, F, Wang, C-H, Wei, J, Weil, K, Wesselius, S, Wham, M, Whelan, B, White, N, Wiedemann, A, Wille, K, Wils, E-J, Xynogalas, I, Suen, JY, Yacoub, S, Yamazaki, M, Yazdanpanah, Y, Yelnik, C, Yerkovich, S, Yokoyama, T, Yonis, H, Young, P, Yuliarto, S, Zabbe, M, Zacharowski, K, Zahran, M, Zambon, M, Zanella, A, Zawadka, K, Zayyad, H, Zoufaly, A, Zucman, D, Abdukahil, SA, Abe, R, Abel, L, Absil, L, Acker, A, Adachi, S, Adam, E, Adriao, D, Ainscough, K, Hssain, AA, Tamlihat, YA, Akimoto, T, Al-Dabbous, T, Al-Fares, A, Al Qasim, E, Alalqam, R, Alex, B, Alexandre, K, Alfoudri, H, Alidjnou, KE, Aliudin, J, Allavena, C, Allou, N, Alves, J, Alves, R, Amaral, M, Ammerlaan, H, Ampaw, P, Andini, R, Andrejak, C, Angheben, A, Angoulvant, F, Ansart, S, Antonelli, M, De Brito, CAA, Arabi, Y, Aragao, I, Arcadipane, A, Arenz, L, Arlet, J-B, Arnold-Day, C, Arora, L, Artaud-Macari, E, Asensio, A, Assie, JB, Atique, A, Auchabie, J, Aumaitre, H, Azemar, L, Azoulay, C, Bach, B, Bachelet, D, Baillie, JK, Bak, E, Bakakos, A, Banisadr, F, Barbalho, R, Barclay, WS, Barnikel, M, Barrelet, A, Barrigoto, C, Basmaci, R, Rincon, DFB, Bedossa, A, Behilill, S, Beljantsev, A, Bellemare, D, Beltrame, A, Beluze, M, Benech, N, Benkerrou, D, Bennett, S, Bento, L, Berdal, J-E, Bergeaud, D, Bertolino, L, Bessis, S, Bevilcaqua, S, Bhavsar, K, Bin Humaid, F, Bissuel, F, Biston, P, Bitker, L, Blanco-Schweizer, P, Blot, M, Boccia, F, Bogaert, D, Bompart, F, Booth, G, Borges, D, Borie, R, Bos, J, Bosse, HM, Botelho-Nevers, E, Bouadma, L, Bouchaud, O, Bouchez, S, Bouhmani, D, Bouhour, D, Bouiller, K, Bouillet, L, Bouisse, C, Boureau, A-S, Bouscambert, M, Bouziotis, J, Boxma, B, Boyer-Besseyre, M, Boylan, M, Braga, C, Brandenburger, T, Brazzi, L, Breen, D, Breen, P, Brickell, K, Brozzi, N, Buchtele, N, Buesaquillo, C, Bugaeva, P, Buisson, M, Burhan, E, Bustos, IG, Butnaru, D, Carcel, S, Cabie, A, Cabral, S, Caceres, E, Callahan, M, Calligy, K, Calvache, JA, Camoes, J, Campana, V, Campbell, P, Canepa, C, Cantero, M, Caraux-Paz, P, Cardoso, F, Cardoso, S, Carelli, S, Carlier, N, Carney, G, Carpenter, C, Carret, M-C, Carrier, FM, Carson, G, Casanova, M-L, Cascao, M, Casimiro, J, Cassandra, B, Castaneda, S, Castanheira, N, Castor-Alexandre, G, Castrillon, H, Castro, I, Catarino, A, Catherine, 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B, Thompson, AAR, Thompson, S, Thomson, D, Thomson, EC, Thuy, DB, Thwaites, RS, Timashev, PS, Timsit, J-F, Vijayaraghavan, BKT, Toki, M, Tonby, K, Santos-Olmo, RMT, Torres, A, Torres, M, Trioux, T, Trieu, HT, Tromeur, C, Trontzas, I, Troost, J, Trouillon, T, Tual, C, Tubiana, S, Tuite, H, Turtle, LCW, Twardowski, P, Uchiyama, M, Ullrich, R, Uribe, A, Usman, A, Val-Flores, L, Van de Velde, S, Van den Berge, M, Van der Feltz, M, Van der Vekens, N, Van der Voort, P, Van der Werf, S, Van Dyk, M, Van Gulik, L, Van Hattem, J, Van Lelyveld, S, Van Netten, C, Vanel, N, Vanoverschelde, H, Vauchy, C, Veislinger, A, Velazco, J, Ventura, S, Verbon, A, Vieira, C, Villanueva, JA, Villar, J, Villeneuve, P-M, Villoldo, A, Chau, NVV, Visseaux, B, Visser, H, Vuorinen, A, Vuotto, F, Wang, C-H, Wei, J, Weil, K, Wesselius, S, Wham, M, Whelan, B, White, N, Wiedemann, A, Wille, K, Wils, E-J, Xynogalas, I, Suen, JY, Yacoub, S, Yamazaki, M, Yazdanpanah, Y, Yelnik, C, Yerkovich, S, Yokoyama, T, Yonis, H, Young, P, Yuliarto, S, Zabbe, M, Zacharowski, K, Zahran, M, Zambon, M, Zanella, A, Zawadka, K, Zayyad, H, Zoufaly, A, and Zucman, D
Abstract: BACKGROUND: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. METHODS: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. RESULTS: 'Typical' symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≤ 18 years: 69, 48, 23; 85%), older adults (≥ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P < 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. INTERPRETATION: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men.
Published: 2021

257. A Randomised Controlled Trial of Inhibitory Control Training for Smoking Cessation: Outcomes, Mediators and Methodological Considerations

Author: Hughes, LK, Hayden, MJ, Bos, J, Lawrence, NS, Youssef, GJ, Borland, R, Staiger, PK, Hughes, LK, Hayden, MJ, Bos, J, Lawrence, NS, Youssef, GJ, Borland, R, and Staiger, PK
Abstract: Objective: Inhibitory control training (ICT) has shown promise for improving health behaviours, however, less is known about its mediators of effectiveness. The current paper reports whether ICT reduces smoking-related outcomes such as craving and nicotine dependence, increases motivation to quit and whether reductions in smoking or craving are mediated by response inhibition or a devaluation of smoking stimuli. Method: Adult smokers (minimum 10 cigarettes per day; N = 107, M age = 46.15 years, 57 female) were randomly allocated to receive 14 days of smoking-specific ICT (named INST; a go/no-go task where participants were trained to not respond to smoking stimuli) or active control training (participants inhibited responding toward neutral stimuli). Participants were followed up to 3-months post-intervention. This trial was preregistered (Australian and New Zealand Clinical Trials Registry ID: ACTRN12617000252314; URL: https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=370204). Results: There were no significant differences between ICT and active control training groups. Specifically, participants in both groups showed significant reductions in craving, nicotine dependence, motivation and a devaluation (reduced evaluation) of smoking-stimuli up to 3-months follow-up compared to baseline. Inhibition and devaluation of smoking stimuli did not act as mediators. Devaluation of smoking stimuli was an independent predictor of smoking and craving at follow-up. Conclusion: Inhibitory control training (ICT) was no more effective at reducing smoking-related outcomes compared to the active control group, however, significant improvements in craving, dependence indicators and evaluation of smoking stimuli were observed across both groups. A return to basic experimental research may be required to understand the most effective ICT approach to support smoking cessation.
Published: 2021

258. Oxygen gradient ektacytometry-derived biomarkers are associated with vaso-occlusive crises and correlate with treatment response in sickle cell disease

Author: Rab, MAE, Kanne, CK, Bos, J, van Oirschot, BA, Boisson, C, Houwing, ME, Gerritsma, J, Teske, E, Renoux, C, Riedl, J, Schutgens, REG, Bartels, M, Nur, E, Joly, P, Fort, R, Cnossen, Marjon, Wijk, R, Connes, P, van Beers, EJ, Sheehan, VA, Rab, MAE, Kanne, CK, Bos, J, van Oirschot, BA, Boisson, C, Houwing, ME, Gerritsma, J, Teske, E, Renoux, C, Riedl, J, Schutgens, REG, Bartels, M, Nur, E, Joly, P, Fort, R, Cnossen, Marjon, Wijk, R, Connes, P, van Beers, EJ, and Sheehan, VA
Published: 2021

259. Ektacytometry Analysis of Post-splenectomy Red Blood Cell Properties Identifies Cell Membrane Stability Test as a Novel Biomarker of Membrane Health in Hereditary Spherocytosis

Author: Opleiding Neurologie, CDL Rode cel, Centraal Diagnostisch Laboratorium, Zorgeenheid Kinderchirurgie Medisch, Child Health, Poli Van Creveldkliniek Medisch, Haematologie patientenzorg, CDL Arcadia, Circulatory Health, Unit Opleiding Aios, Berrevoets, M C, Bos, J, Huisjes, R, Merkx, T H, van Oirschot, B A, van Solinge, W W, Verweij, J W, Lindeboom, M Y A, van Beers, E J, Bartels, M, van Wijk, R, Rab, M A E, Opleiding Neurologie, CDL Rode cel, Centraal Diagnostisch Laboratorium, Zorgeenheid Kinderchirurgie Medisch, Child Health, Poli Van Creveldkliniek Medisch, Haematologie patientenzorg, CDL Arcadia, Circulatory Health, Unit Opleiding Aios, Berrevoets, M C, Bos, J, Huisjes, R, Merkx, T H, van Oirschot, B A, van Solinge, W W, Verweij, J W, Lindeboom, M Y A, van Beers, E J, Bartels, M, van Wijk, R, and Rab, M A E
Published: 2021

260. Wadvogels van Allure: blauwe kiekendief en velduil : Onderzoeks- en monitoringsrapport

Author: Schlaich, A., Klaassen, R., Schaub, T., Postma, M., Wiersma, P., Westerhuis, G., Hakkert, J., Vries, S. de, Bos, J., Schlaich, A., Klaassen, R., Schaub, T., Postma, M., Wiersma, P., Westerhuis, G., Hakkert, J., Vries, S. de, and Bos, J.
Abstract: Blauwe kiekendief Circus cyaneus en velduil Asio flammeus zijn twee iconische vogelsoorten van het Waddengebied. Talrijk zijn ze nooit geweest, maar nu dreigen beide soorten als broedvogel uit Nederland te verdwijnen. Terwijl in de eerste helft van de jaren negentig van de vorige eeuw nog ruim honderd paar blauwe kiekendieven in het Waddengebied broedden, gaat het de laatste jaren nog maar om een handvol broedparen. Ook de velduil is met minder dan 10 broedparen op de eilanden een zeer schaarse broedvogel geworden. De achteruitgang van blauwe kiekendief en velduil wordt veroorzaakt door een scala aan factoren met deels internationale dimensies. Eén van de specifieke problemen in Nederland is de verslechtering van de voedselsituatie voor blauwe kiekendief en velduil in zowel duingebied als agrarisch gebied. Wadvogels van Allure voorzag in de uitrol van een relatief nieuwe maatregel voor blauwe kiekendief en velduil in het Waddengebied: de vogelakker. De vogelakker is een meerjarige maatregel waarin zich een muizenpopulatie kan ontwikkelen. Deze muizen zijn het hele jaar door bejaagbaar voor blauwe kiekendief en velduil. Vogelakkers beogen zo bij te dragen aan een verbetering van het voedselaanbod voor muizeneters. In het kader van Wadvogels van Allure zijn verspreid in het Waddengebied 150 ha vogelakkers aangelegd. Deze vogelakkers waren met name geclusterd bij agrariërs en Natuurmonumenten op Texel en bij akkerbouwers in de Oost-Groningse Dollardpolders. De aanleg van vogelakkers ging gepaard met uitgebreide monitoring en aanvullend onderzoek. Dit bestond onder meer uit tellingen van (veld)muizen en vogels in vogelakkers, voedselonderzoek en onderzoek naar habitatgebruik door middel van zenderonderzoek.
Published: 2021

261. Gender-related differences in octogenarians with congenital coronary artery fistula: a report of two cases and a review

Author: Said, S. A. M., Koomen, E. M., and Bos, J. S.
Published: 2011
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262. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

Author: Bos, J. Martijn, Theis, Jeanne L., Tajik, A. Jamil, Gersh, Bernard J., Ommen, Steve R., and Ackerman, Michael J.
Published: 2008
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263. Kwaliteit van leven bij dementie: Opvattingen onder mensen met dementie, hun zorgverleners en in de literatuur

Author: Gerritsen, D. L., Dröes, R. M., Ettema, T. P., Boelens, E., Bos, J., Meihuizen, L., de Lange, J., Schölzel-Dorenbos, C. J. M., and Hoogeveen, F.
Published: 2010
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264. Predictors of influenza in the adult population during seasonal and A(H1N1)pdm09 pandemic influenza periods

Author: GEFENAITE, G., TACKEN, M., KOLTHOF, J., MULDER, B., KOREVAAR, J. C., STIRBU-WAGNER, I., BOS, J., STOLK, R. P., and HAK, E.
Published: 2014

265. Deformation patterns in genotyped patients with hypertrophic cardiomyopathy

Author: Geske, Jeffrey B., Bos, J. Martijn, Gersh, Bernard J., Ommen, Steve R., Eidem, Benjamin W., and Ackerman, Michael J.
Published: 2014
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266. Chironomid-based palaeotemperature estimates for northeast Finland during Oxygen Isotope Stage 3

Author: Engels, S., Bohncke, S. J. P., Bos, J. A. A., Brooks, S. J., Heiri, O., and Helmens, K. F.
Published: 2008
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267. Use of Artificial Intelligence and Deep Neural Networks in Evaluation of Patients With Electrocardiographically Concealed Long QT Syndrome From the Surface 12-Lead Electrocardiogram

Author: Bos, J. Martijn, primary, Attia, Zachi I., additional, Albert, David E., additional, Noseworthy, Peter A., additional, Friedman, Paul A., additional, and Ackerman, Michael J., additional
Published: 2021
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268. DETECTION OF HYPERTROPHIC CARDIOMYOPATHY BY ARTIFICIAL INTELLIGENCE-ENABLED ELECTROCARDIOGRAPHY IN CHILDREN AND ADOLESCENTS

Author: Siontis, Konstantinos, primary, Liu, Kan, additional, Bos, J. Martijn, additional, Attia, Zachi Itzhak, additional, Arruda-Olson, Adelaide, additional, Farahani, Nasibeh Z., additional, Friedman, Paul, additional, Noseworthy, Peter, additional, and Ackerman, Michael, additional
Published: 2021
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269. Berekenen van kwaliteitsindicatoren voor de thuiszorg: voorbeeld uit het ADHOC project, een vergelijking tussen thuiszorgorganisaties uit 11 Europese landen

Author: Frijters, D. H. M., Carpenter, G. I., Bos, J. T., and Bernabei, R.
Published: 2008
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270. Outcome and quality of life one year after percutaneous coronary interventions in octogenarians

Author: Günal, A., Aengevaeren, W. R. M., Gehlmann, H. R., Luijten, J. E., Bos, J. S., and Verheugt, F. W. A.
Published: 2008
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271. Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome

Author: Dotzler, Steven M., primary, Kim, C.S. John, additional, Gendron, William A.C., additional, Zhou, Wei, additional, Ye, Dan, additional, Bos, J. Martijn, additional, Tester, David J., additional, Barry, Michael A., additional, and Ackerman, Michael J., additional
Published: 2021
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272. Artificial Intelligence–Enabled Assessment of the Heart Rate Corrected QT Interval Using a Mobile Electrocardiogram Device

Author: Giudicessi, John R., primary, Schram, Matthew, additional, Bos, J. Martijn, additional, Galloway, Conner D., additional, Shreibati, Jacqueline B., additional, Johnson, Patrick W., additional, Carter, Rickey E., additional, Disrud, Levi W., additional, Kleiman, Robert, additional, Attia, Zachi I., additional, Noseworthy, Peter A., additional, Friedman, Paul A., additional, Albert, David E., additional, and Ackerman, Michael J., additional
Published: 2021
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273. Ektacytometry Analysis of Post-splenectomy Red Blood Cell Properties Identifies Cell Membrane Stability Test as a Novel Biomarker of Membrane Health in Hereditary Spherocytosis

Author: Berrevoets, M. C., primary, Bos, J., additional, Huisjes, R., additional, Merkx, T. H., additional, van Oirschot, B. A., additional, van Solinge, W. W., additional, Verweij, J. W., additional, Lindeboom, M. Y. A., additional, van Beers, E. J., additional, Bartels, M., additional, van Wijk, R., additional, and Rab, M. A. E., additional
Published: 2021
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274. Distribution of motor unit potential velocities in short static and prolonged dynamic contractions at low forces: use of the within-subject’s skewness and standard deviation variables

Author: Klaver-Król, E. G., Henriquez, N. R., Oosterloo, S. J., Klaver, P., Bos, J. M., and Zwarts, M. J.
Published: 2007
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275. Space sickness on earth

Author: Nooij, S. A. E., Bos, J. E., Groen, E. L., Bles, W., and Ockels, W. J.
Published: 2007
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276. Isaiah Berlin: een eclectisch denker op het grensvlak van filosofie, politieke theorie en geschiedenis: [Bespreking van: J.L. Cherniss, S.B. Smith (2018) The Cambridge companion to Isaiah Berlin]

Author: Bos, J. and ASH (FGw)
Published: 2020

277. Negen (ont)spannende podcasts

Author: Bos, J. and Klein Wolt, M.
Subjects: Astronomy
Abstract: Item does not contain fulltext 15 december 2020
Published: 2020

278. Humors and the Mind

Author: Bos, J., Jalobeanu, D., Wolfe, C.T., and ASH (FGw)
Subjects: fluids and secretions, genetic structures, sense organs, eye diseases
Abstract: The fundamental assumption of the theory of humors, which has its roots in ancient medicine, is that the body is composed of a limited number of elementary fluids, considered crucial for the explanation of health and disease. Already in antiquity, the theory of humors acquired a psychological dimension, holistically connecting the humoral constitution of the body with mental dispositions. Psychological humoralism remained important in the early modern period but was increasingly undermined by new views on the body, the soul, and the relation between the two.
Published: 2020

279. Recessive inheritance of DISP1 variants in holoprosencephaly spectrum patients

Author: Lavillaureix, A., Dubourg, C., Quelin, C., Keren, B., Whalen, S., Hendriks, Y., Bos, J., David, V., Dupe, V., Odent, S., Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre de référence Maladies Rares CLAD-Ouest [Rennes], CHU Pontchaillou [Rennes], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Vrije Universiteit Medical Centre (VUMC), Vrije Universiteit Amsterdam [Amsterdam] (VU), and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2020

280. Toezicht als tegenkracht Naar een inspectie op de domeinen belastingen, toeslagen en douane

Author: Hemels, Sigrid, van Erp, J, van den Bos, J, Bokhorst, M, and Law and Tax
Published: 2020

281. Regulation of the small GTPase Rheb by amino acids

Author: Roccio, M, Bos, J L, and Zwartkruis, F J T
Published: 2006
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282. Ankersmit’s Dutch Writings and Their Audience

Author: Bos, J. and ASH (FGw)
Subjects: History, History and Philosophy of Science
Abstract: This article analyses Frank Ankersmit’s Dutch-language writings in the context of Dutch debates on historical theory. In the 1970s and 1980s historical theory became a flourishing discipline in the Netherlands; it was a compulsory part of all history programmes in the country, and all history departments employed one or more historical theorists. The Dutch theoretical debates of the 1970s and 1980s mainly dealt with the relation between history and the social sciences. In these debates Ankersmit defended the traditional historicist conception of historiography, while developing philosophical views that would remain important in his later work. Especially relevant in this respect is his critique of linguistic transcendentalism. This view is already present in his earliest writings in the 1970s, but it also informs his work on historical representation of the late 1980s and 1990s, and it is very important in his analysis of historical experience, which has its roots in his Dutch writings of the mid-1990s.
Published: 2018

283. File Fragmentation in the Wild: a Privacy-Friendly Approach

Author: Meer, V. van der, Jonker, H., Dols, G., Beek, H. ter, Bos, J., Eekelen, M. van, Meer, V. van der, Jonker, H., Dols, G., Beek, H. ter, Bos, J., and Eekelen, M. van
Abstract: WIFS'19, Contains fulltext : 219343.pdf (Publisher’s version ) (Open Access)
Published: 2020

284. Oxygen gradient ektacytometry-derived biomarkers are associated with vaso-occlusive crises and correlate with treatment response in sickle cell disease

Author: Rab, M.A.E. (Minke A. E.), Kanne, C.K. (Celeste K.), Bos, J. (Jennifer), van Oirschot, B.A. (Brigitte A.), Boisson, C. (Camille), Houwing, M.E. (Maite E.), Gerritsma, J. (Jorn), Teske, E. (Erik), Renoux, C. (Celine), Riedl, J.A. (Jurgen), Schutgens, R. (Roger), Bartels, M. (Marije), Nur, E. (Erfan), Joly, P. (Philippe), Fort, R. (Romain), Cnossen, M.H. (Marjon), van Wijk, R. (Richard), Connes, P. (Philippe), Beers, E.J. (Eduard) van, Sheehan, V.A. (Vivien A.), Rab, M.A.E. (Minke A. E.), Kanne, C.K. (Celeste K.), Bos, J. (Jennifer), van Oirschot, B.A. (Brigitte A.), Boisson, C. (Camille), Houwing, M.E. (Maite E.), Gerritsma, J. (Jorn), Teske, E. (Erik), Renoux, C. (Celine), Riedl, J.A. (Jurgen), Schutgens, R. (Roger), Bartels, M. (Marije), Nur, E. (Erfan), Joly, P. (Philippe), Fort, R. (Romain), Cnossen, M.H. (Marjon), van Wijk, R. (Richard), Connes, P. (Philippe), Beers, E.J. (Eduard) van, and Sheehan, V.A. (Vivien A.)
Published: 2020
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285. NINscope, a versatile miniscope for multi-region circuit investigations

Author: de Groot, A. (Andres), van den Boom, B.J. (Bastijn Jg), van Genderen, R.M. (Romano M.), Coppens, J. (Joris), van Veldhuijzen, J. (John), Bos, J. (Joop), Hoedemaker, H. (Hugo), Negrello, M. (Mario), Willuhn, I. (Ingo), Zeeuw, C.I. (Chris) de, Hoogland, T.M. (Tycho), de Groot, A. (Andres), van den Boom, B.J. (Bastijn Jg), van Genderen, R.M. (Romano M.), Coppens, J. (Joris), van Veldhuijzen, J. (John), Bos, J. (Joop), Hoedemaker, H. (Hugo), Negrello, M. (Mario), Willuhn, I. (Ingo), Zeeuw, C.I. (Chris) de, and Hoogland, T.M. (Tycho)
Abstract: Miniaturized fluorescence microscopes (miniscopes) have been instrumental to monitor neural signals during unrestrained behavior and their open-source versions have made them affordable. Often, the footprint and weight of open-source miniscopes is sacrificed for added functionality. Here, we present NINscope: a light-weight miniscope with a small footprint that integrates a high-sensitivity image sensor, an inertial measurement unit and an LED driver for an external optogenetic probe. We use it to perform the first concurrent cellular resolution recordings from cerebellum and cerebral cortex in unrestrained mice, demonstrate its optogenetic stimulation capabilities to examine cerebello-cerebral or cortico-striatal connectivity, and replicate findings of action encoding in dorsal striatum. In combination with cross-platform acquisition and control software, our miniscope is a versatile addition to the expanding tool chest of open-source miniscopes that will increase access to multi-region circuit investigations during unrestrained behavior.
Published: 2020
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286. Case study: Yanomami violence and the ethics of anthropological practices

Author: Bos, J., Meijl, A.H.M. van, Bos, J., and Meijl, A.H.M. van
Abstract: Item does not contain fulltext
Published: 2020

287. An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Author: Roberts, Jason D, Roberts, Jason D, Asaki, S Yukiko, Mazzanti, Andrea, Bos, J Martijn, Tuleta, Izabela, Muir, Alison R, Crotti, Lia, Krahn, Andrew D, Kutyifa, Valentina, Shoemaker, M Benjamin, Johnsrude, Christopher L, Aiba, Takeshi, Marcondes, Luciana, Baban, Anwar, Udupa, Sharmila, Dechert, Brynn, Fischbach, Peter, Knight, Linda M, Vittinghoff, Eric, Kukavica, Deni, Stallmeyer, Birgit, Giudicessi, John R, Spazzolini, Carla, Shimamoto, Keiko, Tadros, Rafik, Cadrin-Tourigny, Julia, Duff, Henry J, Simpson, Christopher S, Roston, Thomas M, Wijeyeratne, Yanushi D, El Hajjaji, Imane, Yousif, Maisoon D, Gula, Lorne J, Leong-Sit, Peter, Chavali, Nikhil, Landstrom, Andrew P, Marcus, Gregory M, Dittmann, Sven, Wilde, Arthur AM, Behr, Elijah R, Tfelt-Hansen, Jacob, Scheinman, Melvin M, Perez, Marco V, Kaski, Juan Pablo, Gow, Robert M, Drago, Fabrizio, Aziz, Peter F, Abrams, Dominic J, Gollob, Michael H, Skinner, Jonathan R, Shimizu, Wataru, Kaufman, Elizabeth S, Roden, Dan M, Zareba, Wojciech, Schwartz, Peter J, Schulze-Bahr, Eric, Etheridge, Susan P, Priori, Silvia G, Ackerman, Michael J, Roberts, Jason D, Roberts, Jason D, Asaki, S Yukiko, Mazzanti, Andrea, Bos, J Martijn, Tuleta, Izabela, Muir, Alison R, Crotti, Lia, Krahn, Andrew D, Kutyifa, Valentina, Shoemaker, M Benjamin, Johnsrude, Christopher L, Aiba, Takeshi, Marcondes, Luciana, Baban, Anwar, Udupa, Sharmila, Dechert, Brynn, Fischbach, Peter, Knight, Linda M, Vittinghoff, Eric, Kukavica, Deni, Stallmeyer, Birgit, Giudicessi, John R, Spazzolini, Carla, Shimamoto, Keiko, Tadros, Rafik, Cadrin-Tourigny, Julia, Duff, Henry J, Simpson, Christopher S, Roston, Thomas M, Wijeyeratne, Yanushi D, El Hajjaji, Imane, Yousif, Maisoon D, Gula, Lorne J, Leong-Sit, Peter, Chavali, Nikhil, Landstrom, Andrew P, Marcus, Gregory M, Dittmann, Sven, Wilde, Arthur AM, Behr, Elijah R, Tfelt-Hansen, Jacob, Scheinman, Melvin M, Perez, Marco V, Kaski, Juan Pablo, Gow, Robert M, Drago, Fabrizio, Aziz, Peter F, Abrams, Dominic J, Gollob, Michael H, Skinner, Jonathan R, Shimizu, Wataru, Kaufman, Elizabeth S, Roden, Dan M, Zareba, Wojciech, Schwartz, Peter J, Schulze-Bahr, Eric, Etheridge, Susan P, Priori, Silvia G, and Ackerman, Michael J
Abstract: BackgroundInsight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration.MethodsPatients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death.ResultsA total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P<0.001). ECG penetrance for heterozygous genotype positive family members was 20.7% (29/140). A definite arrhythmic event was experienced in 16.9% (15/89) of heterozygous probands in comparison with 1.4% (2/140) of family members (adjusted hazard ratio [HR] 11.6 [95% CI, 2.6-52.2]; P=0.001). Event incidence did not differ significantly for Type 2 Jervell and Lange-Nielsen syndrome patients relative to the overall heterozygous cohort (10.5% [2/19]; HR 1.7 [95% CI, 0.3-10.8], P=0.590). The cumulative prevalence of the 32 KCNE1 variants in the Genome Aggregation Database, which is a human database of exome and genome sequencing data from now over 140 000 indiv
Published: 2020

288. Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome

Author: Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR., Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, and Bezzina CR.
Abstract: Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P5×10-8) near NOS1AP, KCNQ1, and KLF12, and 1 missense variant in KCNE1(p.Asp85Asn) at the suggestive threshold (P10-6). Heritability analyses showed that ≈15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP 0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (rg=0.40; P=3.2×10-3). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS c
Published: 2020

289. An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition

Author: Roberts, J, Asaki, S, Mazzanti, A, Bos, J, Tuleta, I, Muir, A, Crotti, L, Krahn, A, Kutyifa, V, Shoemaker, M, Johnsrude, C, Aiba, T, Marcondes, L, Baban, A, Udupa, S, Dechert, B, Fischbach, P, Knight, L, Vittinghoff, E, Kukavica, D, Stallmeyer, B, Giudicessi, J, Spazzolini, C, Shimamoto, K, Tadros, R, Cadrin-Tourigny, J, Duff, H, Simpson, C, Roston, T, Wijeyeratne, Y, El Hajjaji, I, Yousif, M, Gula, L, Leong-Sit, P, Chavali, N, Landstrom, A, Marcus, G, Dittmann, S, Wilde, A, Behr, E, Tfelt-Hansen, J, Scheinman, M, Perez, M, Kaski, J, Gow, R, Drago, F, Aziz, P, Abrams, D, Gollob, M, Skinner, J, Shimizu, W, Kaufman, E, Roden, D, Zareba, W, Schwartz, P, Schulze-Bahr, E, Etheridge, S, Priori, S, Ackerman, M, Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ., Roberts, J, Asaki, S, Mazzanti, A, Bos, J, Tuleta, I, Muir, A, Crotti, L, Krahn, A, Kutyifa, V, Shoemaker, M, Johnsrude, C, Aiba, T, Marcondes, L, Baban, A, Udupa, S, Dechert, B, Fischbach, P, Knight, L, Vittinghoff, E, Kukavica, D, Stallmeyer, B, Giudicessi, J, Spazzolini, C, Shimamoto, K, Tadros, R, Cadrin-Tourigny, J, Duff, H, Simpson, C, Roston, T, Wijeyeratne, Y, El Hajjaji, I, Yousif, M, Gula, L, Leong-Sit, P, Chavali, N, Landstrom, A, Marcus, G, Dittmann, S, Wilde, A, Behr, E, Tfelt-Hansen, J, Scheinman, M, Perez, M, Kaski, J, Gow, R, Drago, F, Aziz, P, Abrams, D, Gollob, M, Skinner, J, Shimizu, W, Kaufman, E, Roden, D, Zareba, W, Schwartz, P, Schulze-Bahr, E, Etheridge, S, Priori, S, Ackerman, M, Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, and Ackerman MJ.
Abstract: Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration. Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death. Results: A total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P<0.001). ECG penetrance for heterozygous genotype positive family members was 20.7% (29/140). A definite arrhythmic event was experienced in 16.9% (15/89) of heterozygous probands in comparison with 1.4% (2/140) of family members (adjusted hazard ratio [HR] 11.6 [95% CI, 2.6-52.2]; P=0.001). Event incidence did not differ significantly for Type 2 Jervell and Lange-Nielsen syndrome patients relative to the overall heterozygous cohort (10.5% [2/19]; HR 1.7 [95% CI, 0.3-10.8], P=0.590). The cumulative prevalence of the 32 KCNE1 variants in the Genome Aggregation Database, which is a human database of exome and genome sequencing data from now over 140 0
Published: 2020

290. An International Multicenter Evaluation of Type 5 Long QT Syndrome:A Low Penetrant Primary Arrhythmic Condition

Author: Roberts, Jason D, Asaki, S Yukiko, Mazzanti, Andrea, Bos, J Martijn, Tuleta, Izabela, Muir, Alison R, Crotti, Lia, Krahn, Andrew D, Kutyifa, Valentina, Shoemaker, M Benjamin, Johnsrude, Christopher L, Aiba, Takeshi, Marcondes, Luciana, Baban, Anwar, Udupa, Sharmila, Dechert, Brynn, Fischbach, Peter, Knight, Linda M, Vittinghoff, Eric, Kukavica, Deni, Stallmeyer, Birgit, Giudicessi, John R, Spazzolini, Carla, Shimamoto, Keiko, Tadros, Rafik, Cadrin-Tourigny, Julia, Duff, Henry J, Simpson, Christopher S, Roston, Thomas M, Wijeyeratne, Yanushi D, El Hajjaji, Imane, Yousif, Maisoon D, Gula, Lorne J, Leong-Sit, Peter, Chavali, Nikhil, Landstrom, Andrew P, Marcus, Gregory M, Dittmann, Sven, Wilde, Arthur A M, Behr, Elijah R, Tfelt-Hansen, Jacob, Scheinman, Melvin M, Perez, Marco V, Kaski, Juan Pablo, Gow, Robert M, Drago, Fabrizio, Aziz, Peter F, Abrams, Dominic J, Gollob, Michael H, Skinner, Jonathan R, Shimizu, Wataru, Kaufman, Elizabeth S, Roden, Dan M, Zareba, Wojciech, Schwartz, Peter J, Schulze-Bahr, Eric, Etheridge, Susan P, Priori, Silvia G, Ackerman, Michael J, Roberts, Jason D, Asaki, S Yukiko, Mazzanti, Andrea, Bos, J Martijn, Tuleta, Izabela, Muir, Alison R, Crotti, Lia, Krahn, Andrew D, Kutyifa, Valentina, Shoemaker, M Benjamin, Johnsrude, Christopher L, Aiba, Takeshi, Marcondes, Luciana, Baban, Anwar, Udupa, Sharmila, Dechert, Brynn, Fischbach, Peter, Knight, Linda M, Vittinghoff, Eric, Kukavica, Deni, Stallmeyer, Birgit, Giudicessi, John R, Spazzolini, Carla, Shimamoto, Keiko, Tadros, Rafik, Cadrin-Tourigny, Julia, Duff, Henry J, Simpson, Christopher S, Roston, Thomas M, Wijeyeratne, Yanushi D, El Hajjaji, Imane, Yousif, Maisoon D, Gula, Lorne J, Leong-Sit, Peter, Chavali, Nikhil, Landstrom, Andrew P, Marcus, Gregory M, Dittmann, Sven, Wilde, Arthur A M, Behr, Elijah R, Tfelt-Hansen, Jacob, Scheinman, Melvin M, Perez, Marco V, Kaski, Juan Pablo, Gow, Robert M, Drago, Fabrizio, Aziz, Peter F, Abrams, Dominic J, Gollob, Michael H, Skinner, Jonathan R, Shimizu, Wataru, Kaufman, Elizabeth S, Roden, Dan M, Zareba, Wojciech, Schwartz, Peter J, Schulze-Bahr, Eric, Etheridge, Susan P, Priori, Silvia G, and Ackerman, Michael J
Abstract: Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multi-center collaboration. Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (JLNS2, N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc > 460ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death. Results: A total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 JLNS2 patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9 ± 38.6ms) compared to genotype positive family members (441.8 ± 30.9ms, p<0.001). ECG penetrance for heterozygous genotype positive family members was 20.7% (29/140). A definite arrhythmic event was experienced in 16.9% (15/89) of heterozygous probands in comparison with 1.4% (2/140) of family members (adjusted hazard ratio [HR]: 11.6, 95% confidence interval [CI]: 2.6-52.2; p=0.001). Event incidence did not differ significantly for JLNS2 patients relative to the overall heterozygous cohort (10.5% [2/19]; HR: 1.7, 95% CI: 0.3-10.8, p=0.590). The cumulative prevalence of the 32 KCNE1 variants in the Genome Aggregation Database (gnomAD), which is a human database of exome and genome sequencing data from now over 140,000 individuals, was 238-fold g
Published: 2020

291. NINscope, a versatile miniscope for multi-region circuit investigations

Author: Groot, A, van den Boom, BJG, van Genderen, Romano, Coppens, JMC, van Veldhuijzen, J, Bos, J, Hoedemaker, H, Negrello, Mario, Willuhn, I, de Zeeuw, Chris, Hoogland, Tycho, Groot, A, van den Boom, BJG, van Genderen, Romano, Coppens, JMC, van Veldhuijzen, J, Bos, J, Hoedemaker, H, Negrello, Mario, Willuhn, I, de Zeeuw, Chris, and Hoogland, Tycho
Published: 2020

292. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author: ZL Neuromusculaire Ziekten Medisch, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica, UMC Utrecht, Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G, Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L, Mazzanti, Andrea, Beckmann, Britt M, Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D, Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M Ben, Weeke, Peter E, Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J, Bos, J Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G, Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Andersen, Peter M, Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C, Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D, Antzelevitch, Charles, Roden, Dan M, Saenen, Johan, Borggrefe, Martin, Odening, Katja E, Ellinor, Patrick T, Tfelt-Hansen, Jacob, Skinner, Jonathan R, van den Berg, Maarten P, Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R, Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G, Guicheney, Pascale, Tan, Hanno L, Newton-Cheh, Christopher, Ackerman, Michael J, Schwartz, Peter J, Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A, Tanck, Michael W T, Bezzina, Connie R, ZL Neuromusculaire Ziekten Medisch, Brain, Projectafdeling ALS, Regenerative Medicine and Stem Cells, Circulatory Health, Genetica, UMC Utrecht, Lahrouchi, Najim, Tadros, Rafik, Crotti, Lia, Mizusawa, Yuka, Postema, Pieter G, Beekman, Leander, Walsh, Roddy, Hasegawa, Kanae, Barc, Julien, Ernsting, Marko, Turkowski, Kari L, Mazzanti, Andrea, Beckmann, Britt M, Shimamoto, Keiko, Diamant, Ulla-Britt, Wijeyeratne, Yanushi D, Kucho, Yu, Robyns, Tomas, Ishikawa, Taisuke, Arbelo, Elena, Christiansen, Michael, Winbo, Annika, Jabbari, Reza, Lubitz, Steven A, Steinfurt, Johannes, Rudic, Boris, Loeys, Bart, Shoemaker, M Ben, Weeke, Peter E, Pfeiffer, Ryan, Davies, Brianna, Andorin, Antoine, Hofman, Nynke, Dagradi, Federica, Pedrazzini, Matteo, Tester, David J, Bos, J Martijn, Sarquella-Brugada, Georgia, Campuzano, Óscar, Platonov, Pyotr G, Stallmeyer, Birgit, Zumhagen, Sven, Nannenberg, Eline A, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Shaw, Christopher E, Shaw, Pamela J, Morrison, Karen E, Andersen, Peter M, Müller-Nurasyid, Martina, Cusi, Daniele, Barlassina, Cristina, Galan, Pilar, Lathrop, Mark, Munter, Markus, Werge, Thomas, Ribasés, Marta, Aung, Tin, Khor, Chiea C, Ozaki, Mineo, Lichtner, Peter, Meitinger, Thomas, van Tintelen, J Peter, Hoedemaekers, Yvonne, Denjoy, Isabelle, Leenhardt, Antoine, Napolitano, Carlo, Shimizu, Wataru, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Makiyama, Takeru, Ohno, Seiko, Itoh, Hideki, Krahn, Andrew D, Antzelevitch, Charles, Roden, Dan M, Saenen, Johan, Borggrefe, Martin, Odening, Katja E, Ellinor, Patrick T, Tfelt-Hansen, Jacob, Skinner, Jonathan R, van den Berg, Maarten P, Olesen, Morten Salling, Brugada, Josep, Brugada, Ramón, Makita, Naomasa, Breckpot, Jeroen, Yoshinaga, Masao, Behr, Elijah R, Rydberg, Annika, Aiba, Takeshi, Kääb, Stefan, Priori, Silvia G, Guicheney, Pascale, Tan, Hanno L, Newton-Cheh, Christopher, Ackerman, Michael J, Schwartz, Peter J, Schulze-Bahr, Eric, Probst, Vincent, Horie, Minoru, Wilde, Arthur A, Tanck, Michael W T, and Bezzina, Connie R
Published: 2020

293. The impact of torture on mental health in the narratives of two torture survivors

Author: de la Rie, S.M., Bos, J., Knipscheer, J.W., Boelen, P.A., Leerstoel Boelen, and Trauma and Grief
Subjects: Refugees, narrative exposure therapy, Torture, media_common.quotation_subject, medicine.medical_treatment, Exposure therapy, Psychological intervention, torture, PTSD, Cognition, General Medicine, Affect (psychology), Mental health, trauma, Feeling, medicine, Anxiety, Posttraumatic Stress Disorder, medicine.symptom, Psychology, Clinical psychology, media_common
Abstract: Introduction: Torture survivors risk developing Posttraumatic Stress Disorder (PTSD) as well as other mental health problems. This clinical case study describes the impact of torture on two survivors who were treated for their PTSD with Narrative Exposure Therapy. Methods: The reports of the narratives of two torture survivors were qualitatively analyzed. It was hypothesized that torture yields overaccommodating cognitions, as well as mental defeat, which in turn, are related to severity of psychological complaints. Results: Both patients have experienced an accumulation of traumatic events. The psychological and physical torture they experienced lead to increased anticipation anxiety, loss of control and feelings of hopelessness, as well as overaccommodating cognitions regarding self and others. Conclusions: Cognitions, culture and beliefs, as well as issues of confidence and a more long-term perspective affect therapeutic work. Building trust, pacing the therapeutic process, and applying tailor-made interventions that focus on cognitions regarding self-esteem, trust in relationships, as well as safety and control are warranted.
Published: 2018

294. Contributors

Author: Ackerman, Michael J., primary, Ahmed, Minhaz Uddin, additional, Ahn, Sun Hee, additional, Allingham, R. Rand, additional, Alsarraj, Jude, additional, Anderson, Matthew L., additional, Annex, Brian H., additional, Augustine, Christina K., additional, Baranzini, Sergio E., additional, Barnes, Peter J., additional, Beasley, Georgia M., additional, Becker, Richard C., additional, Benjamin, Ivor J., additional, Benson, D. Woodrow, additional, Bentzon, Jacob Fog, additional, Bernard, Philip S., additional, Bertram, Lars, additional, Beskow, Laura M., additional, Bondy, Brigitta, additional, Bos, J. Martijn, additional, Boulting, Gabriella L., additional, Brody, Jerome S., additional, Brown, April S., additional, Buetow, Kenneth H., additional, Bullinger, Lars, additional, Butte, Atul J., additional, Carey, David J., additional, Carlson, George, additional, Chen, David, additional, Chahrour, Maria, additional, Chiocca, E. Antonio, additional, Cho, Alex H., additional, Compton, Carolyn, additional, Cook-Deegan, Robert, additional, Craddock, Nicholas, additional, Coulter, Michael, additional, Damani, Samir B., additional, Danik, Jacqueline S., additional, Dave, Sandeep, additional, Dedrick, Russell, additional, DeLeo, Frank R., additional, Diamandis, Eleftherios P., additional, Dokun, Ayotunde O., additional, Downing, Gregory J., additional, Eck, Stephen L., additional, Edelman, Lucas B., additional, Eggan, Kevin C., additional, Falk, Erling, additional, Faruki, Hawazin, additional, Feng, Junjie, additional, Festen, Eleanora Anna Margaretha, additional, Florez, Jose C., additional, Fowler, Vance G., additional, Freedman, Jennifer A., additional, Freeze, Hudson H., additional, Fröhling, Stefan, additional, Galas, David J., additional, Gerhard, Glenn S., additional, Geschwind, Daniel H., additional, van Kessel, Ad Geurts, additional, Giffin, Robert B., additional, Ginsburg, Geoffrey S., additional, Goodall, Megan, additional, Govender, Praveen, additional, Green, Robert C., additional, Gunter, Chris, additional, Gwinn, Marta, additional, Haga, Susanne B., additional, Heath, James R., additional, Hegele, Robert A., additional, Holton, John, additional, Hood, Leroy, additional, Hunter, Kent W., additional, Hwang, Daehee, additional, Javitt, Gail, additional, Jefferson, Gina, additional, John, Sam, additional, Johnson, Keith J., additional, Johnson, Toby, additional, Joy, Tisha R., additional, Kathiresan, Sekar, additional, Kathuria, Hasmeena, additional, Katwal, Arabindra B., additional, Kawamoto, Kensaku, additional, Kelly, Andrea, additional, Khoury, Muin J., additional, Kim, Jin Woo, additional, Kingsmore, Stephen F., additional, Klingler, Tod, additional, Kobayashi, Scott D., additional, Kohane, Isaac S., additional, Kraus, Virginia Byers, additional, Kuiper, Roland P., additional, Lai-Goldman, Myla, additional, Lamb, Neil E., additional, Lambova, Sevdalina Nikolova, additional, Lanktree, Matthew B., additional, Lawler, Sean E., additional, Ledbetter, David H., additional, Lee, Charles, additional, Lee, Inyoul, additional, Le Roch, Karine G., additional, Levy, Samuel, additional, Limou, Sophie, additional, Liu, Wennuan, additional, Liu, Yutao, additional, London, Barry, additional, MacKeigan, Jeffrey P., additional, Mardis, Elaine R., additional, Marquez, Hector, additional, Marra, Marco, additional, Martin, Christa Lese, additional, Martin, Lisa J., additional, McCarroll, Steven A., additional, McHutchison, John, additional, McLeod, Howard L., additional, Mejías, Asunción, additional, Meltzer, Eric B., additional, Moody, M. Anthony, additional, Morin, Ryan D., additional, Moseley, M. Arthur, additional, Mountain, Joanna L., additional, Müller-Ladner, Ulf, additional, Munroe, Patricia B., additional, Ng, Bobby G., additional, Noble, Paul W., additional, O’Donovan, Michael C., additional, Odunsi, Kunle, additional, Omenn, Gilbert S., additional, Ommen, Steve R., additional, Orlando, Lori A., additional, Osterhaus, Albert D.M.E., additional, Owen, Michael J., additional, Parikshak, Neelroop N., additional, Patel, Keyur, additional, Pavlou, Maria P., additional, Paynter, Nina P., additional, Pejovic, Tanja, additional, Pham, Michael X., additional, Plenge, Robert M., additional, Podgoreanu, Mihai V., additional, Ponts, Nadia, additional, Price, Nathan D., additional, Quinn, Bruce, additional, Quintana, Francisco J., additional, Rader, Daniel J., additional, Ramilo, Octavio, additional, Rehm, Heidi L., additional, Rhodes, Benjamin, additional, Ridker, Paul M., additional, Riggs, Erin Rooney, additional, Ross, Jeffrey S., additional, Rubinstein, Wendy S., additional, Saunders, Carol J., additional, Scott, Joan, additional, Shackel, Nicholas A., additional, Shah, Svati H., additional, Simon, Richard, additional, Sisodiya, Sanjay M., additional, Smits, Saskia L., additional, Stamatoyannopoulos, John A., additional, Steele, Glenn D., additional, Steele, Mark P., additional, Stewart, Tessandra, additional, Thomas, Giovana R., additional, Topol, Eric J., additional, Tunis, Sean R., additional, Turner, Aubrey R., additional, Tyler, Douglas S., additional, Veenstra, David L., additional, Venkatachalam, Ramprasath, additional, Voora, Deepak, additional, Vyse, Timothy J., additional, Walsh, Christopher A., additional, Walsh, Katherine, additional, Wang, Hao, additional, Wang, Jun, additional, Weersma, Rinse K., additional, Weiner, Howard L., additional, Weiss, Scott T., additional, Wester, C. William, additional, Wholley, David N., additional, Wiggs, Janey L., additional, Wijmenga, Cisca, additional, Willard, Huntington F., additional, Williams, Hywel J., additional, Williams, Marc S., additional, Winkler, Cheryl A., additional, Woodcock, Janet, additional, Woods, Christopher W., additional, Wu, Pae C., additional, Xu, Jianfeng, additional, Yee, James, additional, Yoo, Hyuntae, additional, Yu, Timothy, additional, Zhang, Jing, additional, and Zhang, Yurong, additional
Published: 2013
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295. Hypertrophic Cardiomyopathies

Author: Bos, J. Martijn, primary, Ommen, Steve R., additional, and Ackerman, Michael J., additional
Published: 2013
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296. Arrhythmias and Arrhythmia Management in Hypertrophic Cardiomyopathy

Author: Bos, J. Martijn, primary, Ommen, Steve R., additional, and Ackerman, Michael J., additional
Published: 2013
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297. Discounting health effects in pharmacoeconomic evaluations: Current controversies

Author: Bos, J. M., Postma, Maarten J., and Annemans, Lieven
Published: 2005
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298. Efficacy of intentional permanent atrial pacing in the long‐term management of congenital long QT syndrome

Author: Kowlgi, Gurukripa N., primary, Giudicessi, John R., additional, Barake, Walid, additional, Bos, J. Martijn, additional, and Ackerman, Michael J., additional
Published: 2021
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299. Estuarine Circulation, Mixing, and Residence Times in the Salish Sea

Author: MacCready, P., primary, McCabe, R. M., additional, Siedlecki, S. A., additional, Lorenz, M., additional, Giddings, S. N., additional, Bos, J., additional, Albertson, S., additional, Banas, N. S., additional, and Garnier, S., additional
Published: 2021
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300. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author: Walsh, Roddy, primary, Lahrouchi, Najim, additional, Tadros, Rafik, additional, Kyndt, Florence, additional, Glinge, Charlotte, additional, Postema, Pieter G., additional, Amin, Ahmad S., additional, Nannenberg, Eline A., additional, Ware, James S., additional, Whiffin, Nicola, additional, Mazzarotto, Francesco, additional, Škorić-Milosavljević, Doris, additional, Krijger, Christian, additional, Arbelo, Elena, additional, Babuty, Dominique, additional, Barajas-Martinez, Hector, additional, Beckmann, Britt M., additional, Bézieau, Stéphane, additional, Bos, J. Martijn, additional, Breckpot, Jeroen, additional, Campuzano, Oscar, additional, Castelletti, Silvia, additional, Celen, Candan, additional, Clauss, Sebastian, additional, Corveleyn, Anniek, additional, Crotti, Lia, additional, Dagradi, Federica, additional, de Asmundis, Carlo, additional, Denjoy, Isabelle, additional, Dittmann, Sven, additional, Ellinor, Patrick T., additional, Ortuño, Cristina Gil, additional, Giustetto, Carla, additional, Gourraud, Jean-Baptiste, additional, Hazeki, Daisuke, additional, Horie, Minoru, additional, Ishikawa, Taisuke, additional, Itoh, Hideki, additional, Kaneko, Yoshiaki, additional, Kanters, Jørgen K., additional, Kimoto, Hiroki, additional, Kotta, Maria-Christina, additional, Krapels, Ingrid P.C., additional, Kurabayashi, Masahiko, additional, Lazarte, Julieta, additional, Leenhardt, Antoine, additional, Loeys, Bart L., additional, Lundin, Catarina, additional, Makiyama, Takeru, additional, Mansourati, Jacques, additional, Martins, Raphaël P., additional, Mazzanti, Andrea, additional, Mörner, Stellan, additional, Napolitano, Carlo, additional, Ohkubo, Kimie, additional, Papadakis, Michael, additional, Rudic, Boris, additional, Molina, Maria Sabater, additional, Sacher, Frédéric, additional, Sahin, Hatice, additional, Sarquella-Brugada, Georgia, additional, Sebastiano, Regina, additional, Sharma, Sanjay, additional, Sheppard, Mary N., additional, Shimamoto, Keiko, additional, Shoemaker, M.Benjamin, additional, Stallmeyer, Birgit, additional, Steinfurt, Johannes, additional, Tanaka, Yuji, additional, Tester, David J., additional, Usuda, Keisuke, additional, van der Zwaag, Paul A., additional, Van Dooren, Sonia, additional, Van Laer, Lut, additional, Winbo, Annika, additional, Winkel, Bo G., additional, Yamagata, Kenichiro, additional, Zumhagen, Sven, additional, Volders, Paul G.A., additional, Lubitz, Steven A., additional, Antzelevitch, Charles, additional, Platonov, Pyotr G., additional, Odening, Katja E., additional, Roden, Dan M., additional, Roberts, Jason D., additional, Skinner, Jonathan R., additional, Tfelt-Hansen, Jacob, additional, van den Berg, Maarten P., additional, Olesen, Morten S., additional, Lambiase, Pier D., additional, Borggrefe, Martin, additional, Hayashi, Kenshi, additional, Rydberg, Annika, additional, Nakajima, Tadashi, additional, Yoshinaga, Masao, additional, Saenen, Johan B., additional, Kääb, Stefan, additional, Brugada, Pedro, additional, Robyns, Tomas, additional, Giachino, Daniela F., additional, Ackerman, Michael J., additional, Brugada, Ramon, additional, Brugada, Josep, additional, Gimeno, Juan R., additional, Hasdemir, Can, additional, Guicheney, Pascale, additional, Priori, Silvia G., additional, Schulze-Bahr, Eric, additional, Makita, Naomasa, additional, Schwartz, Peter J., additional, Shimizu, Wataru, additional, Aiba, Takeshi, additional, Schott, Jean-Jacques, additional, Redon, Richard, additional, Ohno, Seiko, additional, Probst, Vincent, additional, Arnaout, Alain Al, additional, Amelot, Mathieu, additional, Anselme, Frédéric, additional, Billon, Olivier, additional, Defaye, Pascal, additional, Dupuis, Jean-Marc, additional, Jesel, Laurence, additional, Laurent, Gabriel, additional, Maury, Philippe, additional, Pasquie, Jean-Luc, additional, Wiart, Francois, additional, Behr, Elijah R., additional, Barc, Julien, additional, and Bezzina, Connie R., additional
Published: 2021
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