A core outcome set for bronchiectasis in children and adolescents for use in clinical research: an international consensus study

Autor: Chang, Anne B ^*, Boyd, Jeanette, Bush, Andrew, Hill, Adam T, Powell, Zena, Zacharasiewicz, Angela, Alexopoulou, Efthymia, Collaro, Andrew J, Chalmers, James D, Constant, Carolina, Douros, Konstantinos, Fortescue, Rebecca, Griese, Matthias, Grigg, Jonathan, Hector, Andreas, Karadag, Bulent, Mazulov, Oleksandr, Midulla, Fabio, Moeller, Alexander, Proesmans, Marijke, Wilson, Christine, Yerkovich, Stephanie T, Kantar, Ahmad, Grimwood, Keith

Publikováno v: In The Lancet Respiratory Medicine January 2024 12(1):78-88

Long-term follow-up and treatment of congenital alveolar proteinosis

Autor: Muensterer Oliver J, Schaub Bianca, Pamir Asli, Schams Andrea, Brasch Frank, Lohse Peter, Lohse Pia, Sibbersen Anke, Ripper Jan, Griese Matthias, Schön Carola, Glöckner-Pagel Judith, Nicolai Thomas, Reiter Karl, Hector Andreas

Publikováno v: BMC Pediatrics, Vol 11, Iss 1, p 72 (2011)

Abstract Background Clinical presentation, diagnosis, management and outcome of molecularly defined congenital pulmonary alveolar proteinosis (PAP) due to mutations in the GM-CSF receptor are not well known. Case presentation A 2 1/2 years old girl w

Externí odkaz: https://doaj.org/article/026b8c68dea745059981e3fa17256094

A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling

Autor: Beers Michael F, Mulugeta Surafel, Liebisch Gerhard, Hartl Dominik, Hector Andreas, Thurm Tobias, Kern Sunčana, Sparr Christiane, Woischnik Markus, Schmitz Gerd, Griese Matthias

Publikováno v: BMC Cell Biology, Vol 11, Iss 1, p 88 (2010)

Abstract Background Heterozygous mutations of SFTPC, the gene encoding surfactant protein C (SP-C), cause sporadic and familial interstitial lung disease (ILD) in children and adults. The most frequent SFTPC mutation in ILD patients leads to a threon

Externí odkaz: https://doaj.org/article/f9d01a2809794403a20f3b003f2f9c65

Cystic fibrosis related diabetes is not associated with maximal aerobic exercise capacity in cystic fibrosis: a cross-sectional analysis of an international multicenter trial

Autor: Eber, Ernst, Wagner, Marlies, Ellemunter, Helmut, Lands, Larry C, Alarie, Nancy, Karila, Chantal, Simon, Clotilde, Faucou, Anne, Mely, Laurent, Ravaninjatovo, Bruno, Prevotat, Anne, Hebestreit, Helge, Schaeff, Jonathan, Stein, Lothar, Koerner-Rettberg, Cordula, Hammermann, Jutta, Smaczny, Christina, Held, Inka, Junge, Sibylle, Nitsche, Oliver, Fischer, Rainald, Große-Onnebrink, Jörg, Wesner, Anne, Hector, Andreas, Hebestreit, Alexandra, Kriemler, Susi, Schindler, Christian, Radtke, Thomas, Benden, Christian, Casaulta, Carmen, Fischer, Reta, Möller, Alexander, Hulzebos, Erik, Burghard, Marcella, Urquhart, Don S, Blacklock, Sarah, Miller, Debbie, Johnstone, Zoe, Orenstein, David M, Lowman, John D, Haile, Sarah R

Publikováno v: In Journal of Cystic Fibrosis January 2023 22(1):31-38

Long-term safety and efficacy of tezacaftor–ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study

Autor: Gibson, Ronald L., Jr., Rowe, Steven M., Lechtzin, Noah, Ahrens, Richard C., McCoy, Karen S., Aitken, Moira, Donaldson, Scott H., McBennett, Kimberly Ann, Pilewski, Joseph M., Billings, Joanne, Milla, Carlos, Rubenstein, Ronald, Rosenbluth, Daniel Brian, Linnemann, Rachel, Powers, Michael R., Fortner, Christopher, Frederick, Carla Anne, Liou, Theodore G., Black, Philip, Wang, Janice, Colombo, John L., Berdella, Maria, Indihar, Maria Veronica, Brown, Cynthia D., Anstead, Michael, Bilodeau, Lara, Sicilian, Leonard, Jain, Manu, Tolle, James Jerome, Moffett, Kathryn, Nasr, Samya, Taylor-Cousar, Jennifer, Barto, Tara Lynn, Antos, Nicholas, Rogers, John S., Quick, Bryon, Thompson, Henry R., Sawicki, Gregory, Barnett, Bruce, Zanni, Robert L., Smith, Thomas C., Schultz, Karen D., Keating, Claire, Flume, Patrick, Omlor, Gregory J., Ashare, Alix, Voter, Karen, Mehdi, Nighat, Ortiz, Maria Gabriela Tupayachi, Gardner, Tonia E., Boas, Steven R., Messore, Barbara, Zemanick, Edith, Jain, Raksha, McCarthy, Michael, Kissner, Dana G., Patel, Kapilkumar, McNamara, John, Philley, Julie, Berlinski, Ariel, Calimano, Francisco J., Chin, Terry, Conrad, Douglas, Daines, Cori, Raissy, Hengameh H., Keens, Thomas G., Lascano, Jorge E., McWilliams, Bennie, Morrissey, Brian, Reyes, Santiago, Chittivelu, Subramanyam, Hussain, Sabiha, Stone, Arvey, Wallace, James, Klingsberg, Ross, Biller, Julie A., Bui, Stephanie, Sommerburg, Olaf, Bignamini, Elisabetta, Collura, Mirella, Biner, Reta Fischer, Moller, Alexander, Salvatore, Donatello, Belleguic, Chantal, Bentur, Lea, Efrati, Ori, Kerem, Eitan, Prais, Dario, Gallego, Esther Quintana, Barry, Peter, Livnat-Levanon, Galit, Asensi, Jose Ramon Villa, Armstrong, David Stuart, de la Cruz, Oscar Asensio, Gilchrist, Francis, Tullis, Diana Elizabeth, Quon, Bradley, Lands, Larry C., Morrison, Nancy, Lavoie, Annick, Linnane, Barry, Elidemir, Okan, Ringshausen, Felix, Kappler, Matthias, Hebestreit, Helge, Mainz, Jochen, Kiefer, Alexander, Koerner-Rettberg, Cordula, Staab, Doris, Gleiber, Wolfgang, Pressler, Tacjana, Stehling, Florian, Hector, Andreas, Sutharsan, Sivagurunathan, Naehrlich, Lutz, Fischer, Rainald, Downey, Damian, Davies, Jane Carolyn, Ketchell, Robert Ian, Carroll, Mary Patricia, Doe, Simon, MacGregor, Gordon, Nash, Edward Fairbairn, Withers, Nicholas, Peckham, Daniel Gavin, Ledson, Martin James, Kansra, Sonal, Lee, Timothy William Rayner, Delaisi, Bertrand, Rault, Gilles, Le Bihan, Jean, Hubert, Dominique, Fajac, Isabelle, Sermet-Gaudelus, Isabelle, Bakker, Marleen, Arets, Bert, De Boeck, Christiane, Chiron, Raphael, Reix, Philippe, Mainguy, Catherine, van Braeckel, Eva, Malfroot, Anne, Durieu, Isabelle, Dufeu, Nadine Desmazes, Prevotat, Anne, van der Meer, Renske, Merkus, Petrus, Weersink, E.J.M., Gomez-Aguero, Isabel Barrio, Gartner, Silvia, Jover, Amparo Sole, Fernandez, Antonio Alvarez, Cox, Desmond William, McKone, Edward F., Plant, Barry James, Selvadurai, Hiranjan, Bowler, Simon David, Wainwright, Claire Elizabeth, Smith, Daniel, Middleton, Peter Gordon, Wilson, John William, Volpi, Sonia, Colombo, Carla, Fabrizzi, Benedetta, Lucidi, Vincenzina, Cresta, Federico, Cucchiara, Salvatore, Eber, Ernst, Ellemunter, Helmut, Huttegger, Isidor, Hjelte, Lena, Krantz, Christina, Gilljam, Marita, Flume, Patrick A ^*, Downey, Damian G, Brown, Cynthia, De Boeck, Kris, Sawicki, Gregory S, Chang, Philip, Paz-Diaz, Hildegarde, Rubin, Jaime L, Yang, Yoojung, Hu, Xingdi, Pasta, David J, Millar, Stefanie J, Campbell, Daniel, Wang, Xin, Ahluwalia, Neil, Owen, Caroline A, Wainwright, Claire E

Publikováno v: In The Lancet Respiratory Medicine July 2021 9(7):733-746