Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Autor: Melanie H. A. M. Perik, Emmanuela Govaerts, Steven Laga, Inge Goovaerts, Johan Saenen, Emeline Van Craenenbroeck, Josephina A. N. Meester, Ilse Luyckx, Inez Rodrigus, Aline Verstraeten, Lut Van Laer, Bart L. Loeys

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Background:TGFB3 variants cause Loeys–Dietz syndrome type 5, a syndromic form of thoracic aortic aneurysm and dissection. The exact disease phenotype is hard to delineate because of few identified cases and highly variable clinical representation.M

Externí odkaz: https://doaj.org/article/a774750e83bd4f27bb0ab640be8f5b7d

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Extracorporeal Life Support Organization Registry International Report 2022: 100,000 Survivors

Autor: Tonna, Joseph E., Boonstra, Philip S., MacLaren, Graeme, Paden, Matthew, Brodie, Daniel, Anders, Marc, Hoskote, Aparna, Ramanathan, Kollengode, Hyslop, Rob, Fanning, Jeffrey J., Rycus, Peter, Stead, Christine, Barrett, Nicholas A., Mueller, Thomas, Gómez, Rene D., Malhotra Kapoor, Poonam, Fraser, John F., Bartlett, Robert H., Alexander, Peta M.A., Barbaro, Ryan P., Abbasi, Adeel, Said Abdalmohsen, Ahmad, Abdelbary, Akram M., Abecasis, Francisco, Abel, Peter, Abu-Omar, Yasir, Adams, Douglas R, Manuel Africano, Juan, Aganga, Devon, Agati, Salvatore, Agerstrand, Cara, Aguillon, Mario V., Akers, Crystal S., Akhtarekhavari, Julia, Alazzam, Mohammad Izzat Salah, Albert, Martin, Alberti, Angela, Al-Fares, Abdulrahman A., Alfoudri, Huda, Allaert, Silvie, Allbert, Keesha N., Allen, Christopher T., Lescano Alva, Miguel Ángel, Alwardt, Cory M., Amigoni, Angela, Anandamurthy, Balaram, Anastasiadis, Kyriakos, Anders, Nicholas R., Anderson, Scott A., Anderson, Patricia L., Andrijević, Ana, Annoni, Alice, Anselmi, Michael, Anstey, James R., Antonini, Marta V., Antonitsis, Polychronis, Stein Araujo, Tays, Arcalas, Rhodney, Areinamo, Igor, Martin Arias, Anibal, Armijo-Garcia, Veronica, Aronsky, Vladimir, Arora, Lovkesh, Arora, Madhur, Leigh Aspenleiter, Marit, Atik, Fernando A., AugustGeorg Auzinger, Erin Colleen, Azzam, Ismail, Bacchetta, Matthew, Bak, Erica I., Balcells, Joan, Sánchez Ballesteros, Jesús, Banjac, Igor S., Barbaria, Jacqueline M., Barrigoto, Cleide L., Bass, Stephanie D., Batranović, Uroš, Bauer, Matthew H., Fernando Bautista, Diego, Beck, Robert M., Giraldo Bejarano, Estefania, Belohlavek, Jan, Bembea, Melania M., Benes, Jan, Benharash, Peyman, Benish, Lynne A., Bennett, Suzanne, Bento, Luís F.N., Bermudez, Christian A., Bertini, Pietro, Best, Derek, Bharat, Ankit, Bhutta, Omar J., Bizzell, Samantha J., Blakeman, Stephanie A., Blanco-Schweizer, Pablo, Blanton, Jessica K., Blood, Peggy S., Bohlmann, Allison S., Kyle Bohman, John, Bombino, Michela, Kathleen Bonadonna, Desiree, Bond, Ashley, Borgmann, Kristina M., Bourgoin, Pierre, Boville, Brian M., Boza, Raquel, Brady, Heather L., Brady, Alison, Braunlich, Jessica M., Bridges, Brian C., Brinkley, Karen K., Brookshire, Robert S., Brozzi Nicole Brueggemann, Nicolas A., Buckley, Dwight P., Buckley, Klayton, Budhani, Irfan B., Bukamal, Nazar, Burgos, Lucrecia M, Burša, Filip, Busby, Landon K., Buscher, Hergen, Butler, Menoly, Butt, Warwick W., Byrnes, Jonathan W., Calaritis, Christos, Caldwell, Lisa R., Calligaro, Gregory L., Campbell, Patrick T., Camporota, Luigi, Fernando Caneo, Luiz, Jovo Carapic, Vladimir, Carrasco-Carrasco, Cristina, Ivan Carrizo, Nestor, Carrow, Heidi, Carton, Edmund G., Casabella, Christian, Gomez Casal, Vanesa, Casey, Francis L., Castillo, Andres, Castleberry, Anthony W., Alexandros Cavayas, Yiorgos, Cerqua, Karey, Ming Chan, Kai Man ChanWai, Brian Chapman, Jason, Brahma Chari, Hari, Cheifetz, Omair ChaudharyIra M., Chen, Robin H.S, Chen, Weiting, Cheung, Eva W., Cheung, Anson, Chico, Juan I., Chiletti, Roberto, Jin Cho, Hwa, Cholette, Jill M., Christensen, Steffen, Chui, Betty S., Circelli, Alessandro, Clement, Katherine C., Cleuziou, Julie, Clouse, Brian, Cole, Gwendolen, Coles, Garrett M., Collins, Monika F., Collins, Monika F., Connelly, James, Conrad, Steven A., Cook, Marlene, Copeland, Hannah, Copus, Scott C., Cox, Charles S., Craig, Lynne K., Crain, Natasha, Cremonese, Ricardo V., Criswell, Emily A., Cross, Lisa M., Crowley, Moira A., Crowley, Jerome C., Cruz, Leonora, Cypel, Marcelo, Czarnik, Tomasz, Czuczwa, Miroslaw E., Sica da Rocha, Taís, Daddow, Samuel, Dali, Dante C., Dalton, Heidi J., Daly, Kathleen J.R., Damuth, Emily, Daniel, Dennis A., Daniel IV, John M., Daniel, Josiane M., Danis, Max D., Danko, Melissa E., Rodrigues Dantas, Joao Alberto, Daoust, Isabelle, Dauwe, Dieter F., Davidson, Mark, Davis, Joel C., Davis, Mitchell, D’Cunha, Jonathan, de Arruda Bravim, Bruno, de BoodeKim T. De La Cruz, Willem P., Gray DeAngelis, Kathryn, Debeuckelaere, Gerdy, Deitemyer, Matthew A., DellaVolpe, Jeffrey, Deneau, Jamie L., DeNino, Walter F., Denmark, Christopher G., Denney, Derek, DeValeria, Patrick A., Dewulf, Petra, Di Nardo, Matteo, DiBardino, Daniel J., DiMartino, Joseph, Dimopoulos, Stavros, Domico, Michele B., Dominy, Meaghan E., Donker, Dirk W., Dresbach, Till, Droogh, Joep M., Dunlap, Tiffany W., Dupon, Allsion, Durham, Lucian A., Durward, Andrew, Dvorak, Anna, Dyett, John F., Dziedzina, Carol L., Eaken, Carmen L., Eaton, Jonathan S., Eberle, Christopher J., Edwards, Linda, Efseviou, Christakis, Eigner, Juliann M., Ahmed Elhamrawi, Hazem, Elhazmi, Alyaa M., Elizondo, Tammy, Ellersick, Beverly L., Emling, Jonathan A., Ernst, Andreas, Pablo Escalante, Juan, Espinoza, Otoniel, Evey, Lee W., Fan, Eddy, Fang, Gary, Faulkner, Gail M., Fauman, Karen R, Ferguson, Niall, Ferreira, Benigno, Fiane, Arnt E., Andrade Fierro, Dario, Martha Filippi, María, Findeisen, Michael C., Finlay, Katie, Finlayson, Gordon, Fischer, Gwenyth A., Fischer, Courtney D., Fischer, William J., Fisher, Caleb M., Fitriasari, Reni, Fitzgerald, Jillian, Fix, Melissa K., Fleming, Sarah B., Flynn, Brigid C., Forst, Beth A., Fortuna, Philip P., Foti, Giuseppe, Fox, Matthew P., Franco, Thais O., David Freeland, C., Fried, Justin A., Friedman, Matthew L., Furlanetto, Beatriz, Fux, Thomas, Gaião, Sérgio, Gale, Michael J., Garcia, Joann Kathleen G., Garcia-Montilla, Romel, Gardner, Eric R., Garg, Meena, Garrison, Lawrence L., Gavrilovic, Srdjan M., Gawda, Ryszard, Geer, Laura W., Gelandt, Elton A., Gelvin, Michael G., Genovese, Bradley M., George, Jeffrey A., George, Timothy J, George, Sangley, Ghimire, Anup, Giani, Marco, Gill, Baljit S., Glikes, Erin, Golecki, Michael, Gongora, Enrique, Govener, Sara, Graf, Amanda, Grasselli, Giacomo, Gray, Brian W., Greenlee, Joseph A., Gregoric, Igor D., Gregory, Melinda, Grins, Edgars, Volker Groesdonk, Heinrich, Group, Kimberly F., Guarracino, Fabio, Joy Guidi-Solloway, Alexandra, Gunn, Tyler M., Guru, Pramod K, Haddle, John C., Haft, Jonathan W., Haisz, Emma, Hall, Julie L., Hall, Cameron, Hamaguchi, Jun, Hammond, Terese C., Han, Peggy K., Hardison, Daphne C., Harischandra, Dickwelle T., Hart, Shaun M., Harting, Matthew T., Hartley, Louise, Harvey, Chris J., Hasan, Zubair, Fawzy Hassan, Ibrahim, Hastings, Jennifer R., Hatcher, Renee’, Hatton, Kevin W., Haught, Christopher K., Awori Hayanga, Jeremiah, Peter Haydon, Timothy, Healy, Aaron H., Heard, Micheal L., Heather, Beth M., Hendrix, Rik H.J., Hennig, Felix, Hermens, Greet HermansJeannine A.J., Hernandez, Deborah A., Hernandez-Montfort, Jaime, Herrera, Guillermo, Hickman, Keri, Hittel, Ashley, Hobbs, Crystal, Hoffman, Jordan R.H., Hollinger, Laura E., Homishak, Michael, Horigoshi, Nelson K., Hoshino, Kota, Huang, Shu-Chien, Huenges, Katharina, Hussey, Alexander D., Hyslop, Robert W., Ihle, Rayan E., Ingemansson, Ola, Ivulich, Daniel, Jackson, Amanda L., Garcia Jacques, Rogelio, Jain, Harsh, Jakobs, Sharon M., Jan, Robert, Janowiak, Lisa M., Jara, Claire B., Jarden, Angela M., Jarzembowski, Jamie L., Jaudon, Andrew, Kishore Jayanthi, Venkata Krishna, Jennings, Joseph A., Jeong, Inseok, Meza Jiménez, Rafael, Jimenez-Rodriguez, Gian M., Joachim, Sabrina, Joelsons, Daniel, Johnson, Caroline A., Johnson, Andrea L., Jones, Jeffry H., Joseph, Mark, Joseph, Sunimol, Joshi, Raja, Joyce, Christopher J., Seung Jung, Jae, Carone Junior, José, Kallas, Harry J., KamerkarPilje Kang, Asavari, Kar, Biswajit, Karapanagiotidis, Georgios T., Kattan, Javier, Kaufman, David A., Kawauchi, Akira, Keene, Sarah D., Keller, Norma M., Keller, Roberta, Kelley, Emily W., Kelley, Kellie, Kelly-Geyer, Janet F., Kenderessy, Peter, Kenny, Laura E., Keshavjee, Shaf, Kessel, D., Kessler, Heather, Keuler, Suzanne, Khicha, Sanjay, Wan Kim, Do, Kim, Richard Y., Maxwell Kime, Aaron, Kincade, Robert C., Kipfmueller, Florian, Kirk, Douglas A., Klein, Liviu, Knapp, Randall S., Knapp, Randall S., Kneyber, Martin C.J., Knowles, Andrea L., Koch, Jillian M., Koepke, Stephanie, Kogelmann, Klaus M., Elzo Kraemer, Carlos, Krauklis, Amanda, Krumroy, Samantha L., Kumar, Madhan, Kumar, Arun, Kumpf, Matthias E, Kyle, Kimberly, Laffin, Anna, Kees Lagrand, Wim, Lahiji, Parshawn A., Keung Lai, Peter Chi, Ka Lai, Cally Ho, Danielle Laird, Amanda, Landsberg, Michelle LaMarreDavid M., Lanmueller, Pia, Oude Lansink-Hartgring, Annemieke, Beth Larson, Sharon, Laufenberg, De’Ann M., Lavana, Jayshree, Layne, Tracie L., John Lazar, Michael, Ledoux, Matthew R., Lee, Raymond C., Leek, Thomas M., Lequier, Laurance, Lesbekov, Timur, Leslie, Robert, Anne Leung, Kit Hung, Lillie, Jon, Phang Lim, Yeong, Lim, Sang-Hyun, Lin, Ling, Lindsey, Thomas, Ho Ling, Steven Kin, Lingle, Kaitlyn J., Lipes, Jed, Liu, Songqiao, Llevadias, Judit, Lomas, Erin A., Longenecker, Robert D., Lorusso, Roberto, Ann Low, Tracy, Steven Lubinsky, Anthony, Lucas, Matthias LubnowMark T., Lucchini, Alberto, Luze, Lisa E., Lynch, William R., Manoj, M.C., Maas, Jacinta J., MacNamara, Vanessa, Madden, Jesse L., Maimone, Justin, Malhotra, Rajiv, Malone, Matthew P., Mangukia, Chirantan, Manzur-Sandoval, Daniel, Maráczi, Veronika, Marinaro, Jonathan L., Marinucci, Christina R., Marshall, Tammy, Martin, Mark, Marwali, Eva M., Maslach-Hubbard, Anna, Matijašević, Jovan, Mattke, Adrian, Mattucci, Joseph, Maul, Timothy M., Maybauer, Marc O., Mayette, Michael, Mayville, Joni R., McAllister, Catherine, McBride, Martha W., Scott McCaul, David, McClelland, Samantha L.S., Gregory McCloskey, Colin, McGregor, Randy, McKamie, Wesley A., McKee, Andrew D., McMahon, Chelsea M., McMullin, Kaye, McNicol, Jane, McNulty, John P., McRae, Thomas, Meade, Maureen E., Meersseman, Philippe, Mekeirele, Michael, Ito Mendes, Elisa, Menon, Anuradha P., Meyer, Jason P., Meyers, Jourdan E., Meyns, Bart, Mignone, John L., Miller, Brittany D., Miller, Malcolm G.A., Miller, Deborah, Mintak, Renee, Minter, Sarah M., Reis Miranda, Dinis, Mirza, Farrukh, Mishkin, Joseph D., Modelewski, Paul, Mohan, Rajeev C., Hui Mok, Yee, Money, Dustin, Monteagudo, Julie, Moores, Russell R., Moran, Patrick, Morelock, Shawn, Moreno, Marsha R., Blanco Morillo, Juan, Morrison, Tracy, Morton, John M., Morton, Brenda, Moscatelli, Andrea, Mosier, Jarrod M., Muellenbach, Ralf M., Mueller, Andreas, Mueller, Dale, Musca, Steven C., Nagpal, Dave, Najaf, Tasnim, Narasimhan, Mangala, Nater, Melissa, Natividad, Zynthia, Nedeljkov, Djordje, Nelson, Bryan D., Newman, Sally F., Newton, Debra E., Neyman, Jonathan L., George Ng, Wing Yiu, Nicholson, Meghan C., Nicolaas, Christine, Nix, Charlie, Nkwantabisa, Raymond, Nolan, Shirley, Norese, Mariano, Norton, Bridget M., Norton, Bridget M., O’Brien, Serena G., O’Callaghan, Maura, Oishi, Peter, O’Leary, Tony D., Olia, Salim E., O’Meara, Carlisle, Oppel, Emily E., Arias Ortiz, Julian, Oza, Pranay L., Ozment, Caroline P., Pacific, Marjorie, Pálizas, Fernando, Palmer, David, Paoletti, Luca, Pardo, Diego H., Paredes, Pablo, Patel, Thomas PasgaardMrunal G., Patel, Sandeep M., Patel, Vijay S., Patel, Brijesh V., PatelDrisya Paul, Sameer, Pawale, Amit A., Pearson, Nicole M., Renee Pearson, Crystal, Peek, Giles J., Pellecchia, Crescens M., Pellegrino, Vincent, Peperstraete, Harlinde, Perkins, Rebecca L., Perkins, Brandon, Peterec, Steven, Peterman, Claire, Phillips, Cooper W., Piekutowski, Richard R., Pilan, María L., Luisa Pilan, Maria, Mark Pincus, Jason, Pino, Melissa, Plambeck, Robert W., Plisco, Michael S., Plumley, Donald A., Plunkett, Mark D., Poffo, Robinson, Poh, Pei-Fen, Polito, Angelo, Pollema, Travis L, Pozzi, Matteo, Pozzi, Matteo, Pranikoff, Thomas, Prekker, Matthew E., Prossen, Erik F., Puligandla, Pramod S., Puslecki, Mateusz, Raheel Qureshi, Muhammad, Emilia Rabanal, Lily, Abdulhamid Rabie, Ahmed, Rackley, Craig R., Radovancevic, Rajko, Raes, Matthias, Allen Raff, Lauren Desiree, Rahban, Youssef, Raimer, Patricia L., Rajbanshi, Bijoy G., Ramanan, Raj, Rambaud, Jerome, Ramírez-Arce, Jorge A., Simões Ramos, Ana Carolina, Rao, Suresh G., Rector, Raymond, Redfors, Bengt, Regmi, Ashim, Alejandro Rey, Jose, Miguel Ribeiro, Joao, Richards, Chelsea E, Joan Richardson, C., Riddle, Christy C., Riera, Jordi, Ripardo, Marina, Rivas, Fernando M., Roan, Ronald M., Robertson, Elizabeth, Robinson, Megan, Röder, Daniel, Rodrigus, Inez E.R., Paul Roeleveld, Peter, Romano, Jennifer C., Rona, Roberto, Ann Rosenberg, Carol, Rosenow, Felix, Rowe, Robert J., Rower, Katy E., Rudolph, Kristina L., Fernando Rueda, Luis, Ruf, Bettina, Russell, Hyde M., Russell, Nichole, Ryan, Kathleen, Saberi, Asif A., Said, Ahmed S., Sailor, Caitlin, Sakal, Angela, Lujan Salas, Gisela, Salazar, Leonardo, Saleem, Kashif, Samoukovic, Gordan, Sanchez, Pablo G., Marie Santiago, Lian, Sargin, Murat, Miguel Sassine, Assad, Satou, Nancy L., Saunders, Paul C., Schachinger, Scott, Schaible, Thomas, Schellongowski, Peter, Schlager, Gerald W., Schmid, Christof, Schmitt, Joachim, Schnell, LeeAndra, Schnur, Janos, Schroeder, Lukas, Schubach, Scott, Schuetz, Michael T., Schwartz, Gary S., Schwarz, Patricia, Scriven, Nicole M., Seabrook, Ruth B., Seefeldt, Cassandra, Seelhammer, Troy G., Segura-Matute, Susana, Sen, Ayan, Adrian Seoane, Leonardo, Shaffer, Jamie, Shafi, Bilal M., Shambley, Shannon, Shankar, Shyam, Shapland, Amanda, Sharng, Yih, Shavelle, David, Sheldrake, Jayne, Mohan Shetty, Rajesh, Shiber, Joseph R., Shimzu, Naoki, Lou Short, Billie, Sichting, Kay A., Sidehamer, Keith E., Siebenaler, Teka, Silvestry, Scott C., Sinclair, Jennifer T, Sinclair, Andrew, Singh, Aalok R., Singh, Gurmeet, Skinner, Sean C., Smart, Alexandra, Smith, Reanna M., Smith, Adam, Smith, Karen, Sommer-Candelario, Sherri, Song, Seunghwan, Sorensen, Gro, Sousa, Eduardo, Sower, Christopher T., Spadea, Nicholas V, Spangle, April, Speicher, David G., Spieth, Peter M., Srivastava, Ankur, Srivastava, Neeraj, Stahl, Mark, Stallkamp, Eric D., Stanley, Vanessa J., Starr, Joanne P., Staudinger, Thomas, Stevens, Berkeley E., 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Vlaa, Alexander P.J., Vuylsteke, Alain, Loon Wan, Kah, Watkins, Reuben, Watson, Pia, Weast, Travis A., Weaver, Karen E., Welkovics, Norbert, Wellner, Heidi L., Wells, Jason C., Welter, Karen, Westpheling, Amber G., Whalen, Lesta D.S., Whebell, Stephen, Wiersema, Ubbo, Wiisanen, Matthew E., Eugene Wilcox, Bradley, Wille, Keith, Jan Will, Ellyne, Wilson, Brock J., Win, April M., Winearls, James R., Wise, Linda J., Witter, Tobias, Ruby Wong, Hoi Mei, Worku, Berhane, Wright, Tina M, Wu, James K., Yalon, Larissa A., Yantosh, Garrett, Yaranov, Dmitry M., Yee, Pat, Yi, Cassia, Yost, Christian C., Young, John, Younger, Katrina, Zaborowski, Steven, Zachmann, Brenda, Zainab, Asma, Zanai, Rosanna, Zhao, Ju, Zhou, Chengbin, Zinger, Marcia

Publikováno v: ASAIO Journal: A Peer-Reviewed Journal of the American Society for Artificial Internal Organs; February 2024, Vol. 70 Issue: 2 p131-143, 13p

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