Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Declan O'Rourke"'
Autor:
Anna Drożdż, Brian Duggan, Mark W. Ruddock, Cherith N. Reid, Mary Jo Kurth, Joanne Watt, Allister Irvine, John Lamont, Peter Fitzgerald, Declan O’Rourke, David Curry, Mark Evans, Ruth Boyd, Jose Sousa
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundDetailed and invasive clinical investigations are required to identify the causes of haematuria. Highly unbalanced patient population (predominantly male) and a wide range of potential causes make the ability to correctly classify patients
Externí odkaz:
https://doaj.org/article/0dfdf9a298f5453eb5cad9481dbb72da
Autor:
Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 150-155 (2023)
Abstract Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in MTFMT have been described in association with clinical presentations with Leigh syndrome, as well
Externí odkaz:
https://doaj.org/article/281228b2f22844a78b0df3c0979edf2a
Autor:
Brian Duggan, Declan O’Rourke, Neil Anderson, Cherith N. Reid, Joanne Watt, Hugh O’Kane, Ruth Boyd, David Curry, Mark Evans, Michael Stevenson, Mary Jo Kurth, John V. Lamont, Peter Fitzgerald, Mark W. Ruddock
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
IntroductionHaematuria is a common red flag symptom of urinary tract cancer. Bladder cancer (BC) is the most common cancer to present with haematuria. Women presenting with haematuria are often underdiagnosed. Currently, no gender-specific tests are
Externí odkaz:
https://doaj.org/article/94374fdcf9e84a5594328a56e812552b
Autor:
Christelle Moufawad El Achkar, Beth Rosen Sheidley, Declan O'Rourke, Masanori Takeoka, Annapurna Poduri
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 11, Iss , Pp 125-128 (2019)
PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines.We describe a patient with compound heterozygous variants, infantile epilepsy with statu
Externí odkaz:
https://doaj.org/article/b6189b2e38964928a13450d70d7d68fa
Autor:
Andrew J Sutton, John V Lamont, R Mark Evans, Kate Williamson, Declan O'Rourke, Brian Duggan, Gurdeep S Sagoo, Cherith N Reid, Mark W Ruddock
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0202796 (2018)
BACKGROUND:Urothelial bladder cancer (UBC) is the 5th most common cancer in Western societies. The most common symptom of UBC is haematuria. Cystoscopy the gold standard for UBC detection, allows direct observation of the bladder, but is expensive, i
Externí odkaz:
https://doaj.org/article/2f4147c77ace48a988c8d183c1aa136c
Autor:
Cian M McCrudden, Martin G O'Rourke, Kim E Cherry, Hiu-Fung Yuen, Declan O'Rourke, Muhammad Babur, Brian A Telfer, Huw D Thomas, Patrick Keane, Thiagarajan Nambirajan, Chris Hagan, Joe M O'Sullivan, Chris Shaw, Kaye J Williams, Nicola J Curtin, David G Hirst, Tracy Robson
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0118187 (2015)
Therapeutic inhibition of poly(ADP-ribose) polymerase (PARP), as monotherapy or to supplement the potencies of other agents, is a promising strategy in cancer treatment. We previously reported that the first PARP inhibitor to enter clinical trial, ru
Externí odkaz:
https://doaj.org/article/0041870469fb4ed7ba5bba882c646e79
Publikováno v:
Case Reports in Transplantation, Vol 2013 (2013)
Acute kidney injury (AKI) is a recognised complication of intravenous pentamidine therapy. A direct nephrotoxic effect leading to acute tubular necrosis has been postulated. We report a case of severe renal allograft dysfunction due to nebulised pent
Externí odkaz:
https://doaj.org/article/397f84e3d4b0464f988ba5909c7255f7
Publikováno v:
European Journal of Paediatric Neurology. 42:42-46
To highlight the current diagnostic pathway for children with Spinal Muscular Atrophy (SMA) in Ireland. We look to identify points along the diagnostic pathway that may impede a timely diagnosis, and argue that newborn screening for SMA is the single
Autor:
Caoimhe Howard, Arundhati Dev‐Borman, John Stokes, Declan O'Rourke, Ciara Gillespie, Eilish Twomey, Ina Knerr, Ritma Boruah
Publikováno v:
JIMD Reports. 64:150-155
Publikováno v:
BMJ Case Rep
A 13-year-old male asthmatic presented to the general paediatric clinic with papilloedema identified following a check-up with his optician due to blurred vision. His asthma was well controlled on a moderate dose of inhaled corticosteroid and there h