Expert consensus on the management of pharmacodynamic breakthrough-hemolysis in treated paroxysmal nocturnal hemoglobinuria

Autor: David Dingli, Carlos De Castro III, Jamie Koprivnikar, Austin Kulasekararaj, Jaroslaw Maciejewski, Brian Mulherin, Jens Panse, Vinod Pullarkat, Alexander Röth, Jamile Shammo, Louis Terriou, Ilene Weitz, Irina Yermilov, Sarah Gibbs, Michael Broder, David Beenhouwer, David Kuter

Publikováno v: Hematology, Vol 29, Iss 1 (2024)

ABSTRACTIntroduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, non-malignant hematologic disease characterized by complement-mediated hemolysis (with or without hemoglobinuria), fatigue, increased susceptibility to thrombosis, a

Externí odkaz: https://doaj.org/article/9910639b99bf41af8dfaccc4685e89c0

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Autor: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l

Externí odkaz: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

220 Differential patterns of immune infiltration in the tumor immune microenvironment associate with therapeutic response in primary prostate cancer following chemohormonal therapy

Autor: Wei Huang, Brian Johnson, Jamie Sperger, Erika Heninger, David Jarrard, Joshua Lang, Irene Ong, Steve Cho, Peter Geiger, Sheena Kerr, Kristin Weinstein, Shane Wells, Philippos Tsourkas, Sean J Mcilwain, David Beebe

Publikováno v: Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)

Externí odkaz: https://doaj.org/article/f473602fac1d46a5b8fdc6907a4757c2

The SUMO protease SENP1 promotes aggressive behaviors of high HIF2α expressing renal cell carcinoma cells

Autor: Moon Hee Lee, Kyung Sung, David Beebe, Wei Huang, Dan Shapiro, Shigeki Miyamoto, E. Jason Abel

Publikováno v: Oncogenesis, Vol 11, Iss 1, Pp 1-9 (2022)

Abstract While an important role for the SUMO protease SENP1 is recognized in multiple solid cancers, its role in renal cell carcinoma (RCC) pathogenesis, particularly the most dominant subtype, clear cell RCC (ccRCC), is poorly understood. Here we s

Externí odkaz: https://doaj.org/article/5ee96a81e3a44b89bac3dc2f5661c0ee

Teaching learners to whistle?

Autor: Alison Sneddon, David Bee, Iain Lamb, Roland Spencer-Jones

Publikováno v: Education for primary care : an official publication of the Association of Course Organisers, National Association of GP Tutors, World Organisation of Family Doctors. 26(6)

Person centred or process centred? What is the focus of the training programmes developed to meet the GMC’s new requirement for recognising and approving medical educators?[1] To illustrate the dis...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5938eb45b37a328ad8e44aa382d56562
https://pubmed.ncbi.nlm.nih.gov/26808930