Zobrazeno 1 - 10
of 1 273
pro vyhledávání: '"J. O‘Byrne"'
Autor:
Karolina M. Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O’Byrne
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase (IDUA), which is necessary for the degradation of glycosaminoglycans (GAGs). This study o
Externí odkaz:
https://doaj.org/article/d9cb3d6ea31b40e7beb5440463ba69fa
Autor:
Richard A. Greene, Gillian M. Maher, Ali S. Khashan, Fergus P. McCarthy, John Browne, Laura J. O'Byrne
Publikováno v:
HRB Open Research, Vol 4 (2024)
Background Patient centred healthcare is the corner stone to many healthcare strategies. Patient specific health needs should be at the fore of healthcare improvements and quality measurements. Patient reported outcome measures (PROM) that support re
Externí odkaz:
https://doaj.org/article/662a5017f9f0410d9faba34e75bcd571
Autor:
Maddison Rose, Joshua T. Burgess, Chee Man Cheong, Mark N. Adams, Parastoo Shahrouzi, Kenneth J. O’Byrne, Derek J. Richard, Emma Bolderson
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundTriple-negative breast cancer (TNBC) is a sub-classification of breast carcinomas, which leads to poor survival outcomes for patients. TNBCs do not possess the hormone receptors that are frequently targeted as a therapeutic in other cancer
Externí odkaz:
https://doaj.org/article/730fd40bf05e413cbdb093bdcca0200a
Autor:
Thais Sobanski, Amila Suraweera, Joshua T. Burgess, Iain Richard, Chee Man Cheong, Keyur Dave, Maddison Rose, Mark N. Adams, Kenneth J. O’Byrne, Derek J. Richard, Emma Bolderson
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Glucose metabolism and DNA repair are fundamental cellular processes frequently dysregulated in cancer. In this study, we define a direct role for the glycolytic Aldolase A (ALDOA) protein in DNA double-strand break (DSB) repair. ALDOA is a
Externí odkaz:
https://doaj.org/article/a81c8e487a144595879ce2d50a37a29b
Autor:
Richard Greene, Ali S. Khashan, Siobhan Walsh, Jill M. Mitchell, Ray Burke, Virginia Conrick, John Higgins, Gillian M. Maher, Fergus P. McCarthy, Laura J. O'Byrne
Publikováno v:
HRB Open Research, Vol 6 (2024)
Background Current methods of intrapartum fetal monitoring based on heart rate, increase the rates of operative delivery but do not prevent or accurately detect fetal hypoxic brain injury. There is a need for more accurate methods of intrapartum feta
Externí odkaz:
https://doaj.org/article/3cb17ab5e2794ff788bfd19d981ab75a
Autor:
James A. Fletcher, M.B.B.S., William J. Mullally, MBBCh BAO, Rahul Ladwa, MPhil, Kenneth J. O’Byrne, MD
Publikováno v:
JTO Clinical and Research Reports, Vol 5, Iss 2, Pp 100591- (2024)
ALK gene rearrangements are detected in approximately 3% to 5% of NSCLC. ALK tyrosine kinase inhibitors, such as third-generation lorlatinib, have exhibited remarkable efficacy in ALK-rearranged NSCLC; however, they have been associated with a low in
Externí odkaz:
https://doaj.org/article/2a5c358e7f60423296225103b8e163b7
Autor:
Richard A. Greene, Joye McKernan, Fergus P. McCarthy, Ali S. Khashan, Paul Corcoran, Gillian M. Maher, Laura J. O'Byrne
Publikováno v:
HRB Open Research, Vol 5 (2023)
Background: Perineal trauma is a common complication of childbirth and can have serious impacts on long-term health. Few studies have examined the combined effect of multiple risk factors. We developed and internally validated a risk prediction model
Externí odkaz:
https://doaj.org/article/10dc92c95996499e815da2b4300afecf
Autor:
Ann O’Connell, Julia Zhu, Kirk A.J. Stephenson, Laura Whelan, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David Keegan
Publikováno v:
Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 1015-1023 (2022)
The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes two not knowingly related adul
Externí odkaz:
https://doaj.org/article/1a31c0db87b54830859e4e84357d5f1b
Autor:
Marcus P. Conway, Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Tomas Burke, Jacqueline Turner, Francois Thai Le, James J. O’Byrne, David J. Keegan
Publikováno v:
Life, Vol 14, Iss 1, p 107 (2024)
(1) Background: Inherited retinal degenertions are rare conditions which may have a dramatic impact on the daily life of those affected and how they interact with their environment. Coordination of clinical services via an ophthalmic genetics multidi
Externí odkaz:
https://doaj.org/article/65a4dbddf55c48be9b4d8ee0e740b47b
Autor:
Celia C. Kamath, PhD, Thomas J. O’Byrne, MAS, David G. Lewallen, MD, Daniel J. Berry, MD, Hilal Maradit Kremers, MD
Publikováno v:
Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 6, Iss 4, Pp 337-346 (2022)
Objective: To assess the impact of neighborhood-level socioeconomic status factors (area deprivation index [ADI] and rural classification) and their interaction with individual-level socioeconomic status (education-level) on long-term outcomes follow
Externí odkaz:
https://doaj.org/article/84e6e38016de4cb7aa609b38594a768c