CRAN-31. PAPILLARY CRANIOPHARYNGIOMA WITH BRAF V600E MUTATION IN A FOUR YEAR OLD CHILD: A CASE REPORT AND REVIEW OF CLINICAL CASES FROM LITERATURE

Autor: Anthony Penn, John-Paul Kilday, Roisin E. Borrill, Stavros Stivaros, Ian Kamaly-Asl, Edmund Cheesman, Kanna K. Gnanalingham

INTRODUCTION: We report a four year old girl with autistic spectrum disorder who was being investigated for symptomatic central hypothyroidism and potential growth hormone deficiency. Brain MR imaging revealed a large solid / cystic suprasellar mass,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb38fcf385ec9d584468e84641affbd
https://europepmc.org/articles/PMC6012822/

In vivoT-cell depletion using alemtuzumab in family and unrelated donor transplantation for pediatric non-malignant disease achieves engraftment with low incidence of graft vs. host disease

Autor: Helena Lee, Roisin E. Borrill, A. Logan, Andrew Turner, Stephen M. Hughes, Denise Bonney, Brian W. Bigger, Kay Poulton, Rob Wynn, M. A. Saif

Publikováno v: Pediatric Transplantation. 19:211-218

In vivo T-cell depletion, using alemtuzumab therapy prior to SCT, can reduce the incidence of GVHD. This treatment has a potential to delay immune reconstitution resulting in increased morbidity due to viral illnesses. We retrospectively analyzed dat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95b98957b5b1e4055b3e3b5c600ff914
https://doi.org/10.1111/petr.12416

Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines

Autor: Jean Mercer, Mieke Aldenhoven, Ans T. van der Ploeg, Marc Bierings, Robert Wynn, Birgitta Versluys, Frits A. Wijburg, Peter M. van Hasselt, Simon Jones, Denise Bonney, Jaap Jan Boelens, Roisin E. Borrill, Mary Coussons

Publikováno v: Biology of Blood and Marrow Transplantation, 21(6), 1106-1109. Elsevier Inc.
Biology of Blood and Marrow Transplantation, 21(6), 1106. Elsevier Inc.
Biology of blood and marrow transplantation, 21(6), 1106-1109. Elsevier Inc.

Allogeneic hematopoietic cell transplantation, (HCT) is the only treatment able to prevent progressive neurodegenerative disease in a selected group of mucopolysaccharidosis (MPS) disorders. However, its use was historically limited by the high risk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b1f827b2a3d7846ceef730bf40c6f11