Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency

Autor: Jan Stindt, Carola Dröge, Elke Lainka, Simone Kathemann, Eva-Doreen Pfister, Ulrich Baumann, Amelie Stalke, Enke Grabhorn, Mohammad Ali Shagrani, Yael Mozer-Glassberg, Jane Hartley, Marianne Wammers, Caroline Klindt, Paulina Philippski, Roman Liebe, Diran Herebian, Ertan Mayatepek, Thomas Berg, Anjona Schmidt-Choudhury, Constanze Wiek, Helmut Hanenberg, Tom Luedde, Verena Keitel

Publikováno v: JHEP Reports, Vol 5, Iss 7, Pp 100690- (2023)

Background & Aims: Antibody-induced bile salt export pump deficiency (AIBD) is an acquired form of intrahepatic cholestasis, which may develop following orthotopic liver transplantation (OLT) for progressive familial intrahepatic cholestasis type 2 (

Externí odkaz: https://doaj.org/article/e0f0ced14a1a400c90fd20022215385d

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Autor: Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade

Publikováno v: JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with rela

Externí odkaz: https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Autor: Shannon M, Vandriel, Li-Ting, Li, Huiyu, She, Jian-She, Wang, Melissa A, Gilbert, Irena, Jankowska, Piotr, Czubkowski, Dorota, Gliwicz-Miedzińska, Emmanuel M, Gonzales, Emmanuel, Jacquemin, Jérôme, Bouligand, Nancy B, Spinner, Kathleen M, Loomes, David A, Piccoli, Lorenzo, D'Antiga, Emanuele, Nicastro, Étienne, Sokal, Tanguy, Demaret, Noelle H, Ebel, Jeffrey A, Feinstein, Rima, Fawaz, Silvia, Nastasio, Florence, Lacaille, Dominique, Debray, Henrik, Arnell, Björn, Fischler, Susan, Siew, Michael, Stormon, Saul J, Karpen, Rene, Romero, Kyung Mo, Kim, Woo Yim, Baek, Winita, Hardikar, Sahana, Shankar, Amin J, Roberts, Helen M, Evans, M Kyle, Jensen, Marianne, Kavan, Shikha S, Sundaram, Alexander, Chaidez, Palaniswamy, Karthikeyan, Maria Camila, Sanchez, Maria Lorena, Cavalieri, Henkjan J, Verkade, Way Seah, Lee, James E, Squires, Christina, Hajinicolaou, Chatmanee, Lertudomphonwanit, Ryan T, Fischer, Catherine, Larson-Nath, Yael, Mozer-Glassberg, Cigdem, Arikan, Henry C, Lin, Jesus Quintero, Bernabeu, Seema, Alam, Deirdre A, Kelly, Elisa, Carvalho, Cristina Targa, Ferreira, Giuseppe, Indolfi, Ruben E, Quiros-Tejeira, Pinar, Bulut, Pier Luigi, Calvo, Zerrin, Önal, Pamela L, Valentino, Dev M, Desai, John, Eshun, Maria, Rogalidou, Antal, Dezsőfi, Sabina, Wiecek, Gabriella, Nebbia, Raquel Borges, Pinto, Victorien M, Wolters, María Legarda, Tamara, Andréanne N, Zizzo, Jennifer, Garcia, Kathleen, Schwarz, Marisa, Beretta, Thomas Damgaard, Sandahl, Carolina, Jimenez-Rivera, Nanda, Kerkar, Jernej, Brecelj, Quais, Mujawar, Nathalie, Rock, Cristina Molera, Busoms, Wikrom, Karnsakul, Eberhard, Lurz, Ermelinda, Santos-Silva, Niviann, Blondet, Luis, Bujanda, Uzma, Shah, Richard J, Thompson, Bettina E, Hansen, Binita M, Kamath

Publikováno v: Hepatology
Vandriel, S M, Li, L T, She, H, Wang, J S, Gilbert, M A, Jankowska, I, Czubkowski, P, Gliwicz-Miedzińska, D, Gonzales, E M, Jacquemin, E, Bouligand, J, Spinner, N B, Loomes, K M, Piccoli, D A, D'Antiga, L, Nicastro, E, Sokal, É, Demaret, T, Ebel, N H, Feinstein, J A, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S J, Romero, R, Kim, K M, Baek, W Y, Hardikar, W, Shankar, S, Roberts, A J, Evans, H M, Jensen, M K, Kavan, M, Sundaram, S S, Chaidez, A, Karthikeyan, P, Sanchez, M C, Cavalieri, M L, Verkade, H J, Lee, W S, Squires, J E, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R T, Sandahl, T D & The Global ALagille Alliance (GALA) Study Group 2023, ' Natural history of liver disease in a large international cohort of children with Alagille syndrome : Results from the GALA study ', Hepatology, vol. 77, no. 2 . https://doi.org/10.1002/hep.32761
Hepatology, Vol. 77, no. 2, p. 512-529 (2023)

Background and aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa081634c7928ab2481736e90c3d8a8
https://doi.org/10.1002/hep.32761

Long COVID-19 Liver Manifestation in Children

Autor: Shiri, Cooper, Ana, Tobar, Osnat, Konen, Naama, Orenstein, Nesia, Kropach Gilad, Yuval E, Landau, Yael, Mozer-Glassberg, Michal Rozenfeld, Bar-Lev, Ron, Shaoul, Raanan, Shamir, Orith, Waisbourd-Zinman

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 75:244-251

Severe acute respiratory syndrome coronavirus 2, the novel coronavirus responsible for coronavirus disease (COVID-19), has been a major cause of morbidity and mortality worldwide. Gastrointestinal and hepatic manifestations during acute disease have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579f229060429d0e870971f39c152995
https://doi.org/10.1097/mpg.0000000000003521

Clinical and Esophagogastroduodenoscopy Findings in Pediatric Patients With Severe Obesity Evaluated Before Bariatric Surgery

Autor: Orith Waisbourd-Zinman, Patrick Stafler, Raanan Shamir, Emmanuelle Seguier-Lipzyc, Shlomit Shalitin, Michal Rozenfeld Bar Lev, Ari Silbermintz, Simona Tiroler, Rachel Frenklak Sivan, Yael Mozer-Glassberg

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 72:854-858

Objectives Severe obesity in the pediatric population has lifelong consequences. Bariatric surgery has been suggested for selected adolescents with severe obesity after careful evaluation. The indications for preoperative esophagoenteroduodenoscopy (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db0079196aee5336d579baa62c5b8d6
https://doi.org/10.1097/mpg.0000000000003109