Incidence, management and outcomes in hepatic artery complications after paediatric liver transplantation: protocol of the retrospective, international, multicentre HEPATIC Registry

Autor: Barbara E Wildhaber, Wei Zhang, Martin de Santibañes, Victoria Ardiles, Xueli Bai, Mukesh Kumar, Mohamed Rela, Reinoud P H Bokkers, Ekkehard Sturm, Simon McGuirk, Girish Gupte, Esteban Frauca, Francisco Hernández-Oliveros, Winita Hardikar, Helen Evans, Khalid Sharif, Jiří Froněk, David Duncan, Emmanuel Gonzales, Carl Jorns, Alessandro Parente, Ulrich Baumann, Lidia Monti, Marco Spada, Denise Aldrian, Hubert P J van der Doef, Thomas Casswall, Martin Delle, Georg F Vogel, Adam Kolesnik, Mauricio Larrarte K, Paolo Marra, Michela Bravi, Domenico Pinelli, Hajime Uchida, Vidyadhar Mali, Marion Aw, Stéphanie Franchi-Abella, Florent Guérin, Julia Minetto, Sergio Sierre, Jimmy Walker Uno, Steffen Hartleif, Cristina T Ferreira, Luiza S Nader, Catalina Jaramillo, Amit A Shah, Michael R Acord, Tommaso Alterio, Marisa Beretta, Haritha Rajakrishnan, Sudhindran Surendran, Weihao Li, Marcelo Dip, Sue Bates, Lynette Goh, Jonathan Seisenbacher, Joao Seda Neto, Eduardo Antunes da Fonseca, Carolina Magalhães Costa, Marco A Farina, Khaled Z Dajani, David L Bigam, Ting-Bo Liang, Lucie Gonsorčíková, Šimon Bohuš, Norman Junge, Nicolas Richter, Muthukumarassamy Rajakannu, Kumar Palaniappan, Arti Pawaria, Shaleen Agarwal, Subhash Gupta, Sonal Asthana, Vaishnavi Bandewar, Karthik Raichurkar, Yusuke Yanagi, Ryuji Komine, Peter Carr-Boyd, Marek Stefanowicz, Julita Latka-Grot, Dieter C Broering, Dimitri A Raptis, Kris Ann H Marquez, Francisca Van der Schyff, Jesús Quintero-Bernabeu, Maria Mercadal-Hally, Ane M Andres, Riccardo Superina, Juan Carlos Caicedo, Leandra Bitterfeld, Zachary Kastenberg, Bryanna Domenick, George V Mazariegos, Kyle Soltys, Joseph DiNorcia, Swanti Antala, Sander S Florman, Bettina M Buchholz, Uta Herden, Lutz Fischer, Rudi A J O Dierckx, Hermien Hartog

Publikováno v: BMJ Open, Vol 14, Iss 6 (2024)

Introduction Hepatic artery complications (HACs), such as a thrombosis or stenosis, are serious causes of morbidity and mortality after paediatric liver transplantation (LT). This study will investigate the incidence, current management practices and

Externí odkaz: https://doaj.org/article/b5c519cf55df4801870085b52149e12e

Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases

Autor: Cynthia Stapornwongkul, Alexandra Nieters, Paulina Staus, Stephan Rusch, Anita Delor, Ulrich Baumann, Julius Wehrle, Melanie Boerries, Markus G. Seidel, Bodo Grimbacher, Gerhard Kindle

Publikováno v: Journal of Health Monitoring, Vol 8, Iss 4, Pp 24-30 (2023)

Background: Patient registries are an important tool for networking medical caregivers and research, especially in the field of rare diseases. Individuals afflicted by multi-organ autoimmune diseases typically suffer from inflammation of multiple org

Externí odkaz: https://doaj.org/article/24b4660c2fa9423a940b3d97c74997ad

Current genetic diagnostics in inborn errors of immunity

Autor: Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which en

Externí odkaz: https://doaj.org/article/ff11a23ce27c46ce96405dd16607ab8d

TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta

Autor: Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg

Publikováno v: EMBO Molecular Medicine, Vol 15, Iss 7, Pp 1-5 (2023)

Graphical Abstract Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of

Externí odkaz: https://doaj.org/article/077e278d65f247e7b8af5b5934cd8fe4

A widely distributed family of eukaryotic and bacterial deubiquitinases related to herpesviral large tegument proteins

Autor: Ilka Erven, Elena Abraham, Thomas Hermanns, Ulrich Baumann, Kay Hofmann

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

The authors describe the VTD-deubiquitinases, a new eukaryotic enzyme family that is distantly related to herpesviral large tegument proteins. Structures of two family members with different linkage preferences allow insights into the mechanism and c

Externí odkaz: https://doaj.org/article/0bea0eeb09ec488b93fe09a13f31a1b6