Search Results - "O'ROURKE, Declan"

Neurological involvement in children with hemolytic uremic syndrome by Costigan, Caoimhe, Raftery, Tara, Carroll, Anne G., Wildes, Dermot, Reynolds, Claire, Cunney, Robert, Dolan, Niamh, Drew, Richard J., Lynch, Bryan J., O’Rourke, Declan J., Stack, Maria, Sweeney, Clodagh, Shahwan, Amre, Twomey, Eilish, Waldron, Mary, Riordan, Michael, Awan, Atif, Gorman, Kathleen M.

“…Our objective was to establish the rate of neurological involvement in Shiga toxin-producing Escherichia coli –hemolytic uremic syndrome (STEC-HUS) and…”
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The changing pattern of adult primary glomerular disease by Hanko, Jennifer B., Mullan, Robert N., O’Rourke, Declan M., McNamee, Peter T., Maxwell, Alexander P., Courtney, Aisling E.

“…Background. Published biopsy series have shown geographical and temporal variations in the patterns of primary glomerulonephritis (GN). IgA nephropathy is the…”
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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype by Shaughnessy, Niamh, Forman, Eva B., O’Rourke, Declan, Lynch, Sally Ann, Lynch, Bryan

“…•We report a case of SMAX with atypical clinical features.•Previous cases report associated contractures, which was not a feature in our patient.•UBA1…”
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AKT/mTORC2 Inhibition Activates FOXO1 Function in CLL Cells Reducing B-Cell Receptor-Mediated Survival by Cosimo, Emilio, Tarafdar, Anuradha, Moles, Michael W, Holroyd, Ailsa K, Malik, Natasha, Catherwood, Mark A, Hay, Jodie, Dunn, Karen M, Macdonald, Alan M, Guichard, Sylvie M, O'Rourke, Declan, Leach, Michael T, Sansom, Owen J, Cosulich, Sabina C, McCaig, Alison M, Michie, Alison M

“…To determine whether inhibition of mTOR kinase-mediated signaling represents a valid therapeutic approach for chronic lymphocytic leukemia (CLL)…”
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Response to treatment and outcomes of infantile spasms in Down syndrome by Harvey, Susan, Allen, Nicholas M., King, Mary D., Lynch, Bryan, Lynch, Sally A., O’Regan, Mary, O’Rourke, Declan, Shahwan, Amre, Webb, David, Gorman, Kathleen M., Aziz, J, El Hassan, M, Flynn, K, Hanrahan, D, Kehoe, C, Leahy, C, Lynch, N, McHugh, JC, McSweeney, N, O’Mahony, E, O’Mahony, O, Tirupathi, S

“…Aim To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long‐term seizure outcomes in all known cases of…”
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Reduced epithelial suppressor of cytokine signalling 1 in severe eosinophilic asthma by Doran, Emma, Choy, David F, Shikotra, Aarti, Butler, Claire A, O'Rourke, Declan M, Johnston, James A, Kissenpfennig, Adrien, Bradding, Peter, Arron, Joseph R, Heaney, Liam G

“…Severe asthma represents a major unmet clinical need. Eosinophilic inflammation persists in the airways of many patients with uncontrolled asthma, despite…”
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The Complement Cascade in Kidney Disease: From Sideline to Center Stage by McCaughan, Jennifer A., MBChB, O'Rourke, Declan M., MBChB, BAO, Courtney, Aisling E., MBChB, BAO, MPhil

“…Activation of the complement pathway is implicated in the pathogenesis of many kidney diseases. The pathologic and clinical features of these diseases are…”
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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease by Howard, Caoimhe, Dev‐Borman, Arundhati, Stokes, John, O'Rourke, Declan, Gillespie, Ciara, Twomey, Eilish, Knerr, Ina, Boruah, Ritma

“…Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in MTFMT have been…”
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Excessive blinking and ataxia in a child with occult neuroblastoma and voltage-gated potassium channel antibodies by Allen, Nicholas M, McKeon, Andrew, O'Rourke, Declan J, O'Meara, Anne, King, Mary D

“…A previously healthy 9-year-old girl presented with a 10-day history of slowly progressive unsteadiness, slurred speech, and behavior change. On examination…”
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Possible toxicity following embolization of congenital giant vertex hemangioma: case report by Kieran, Ingrid, Zakaria, Zaitun, Kaliaperumal, Chandrasekaran, O'Rourke, Declan, O'Hare, Alan, Laffan, Eoghan, Caird, John, King, Mary D, Murray, Dylan J

“…The authors describe the case of a 3-year-old boy with a giant congenital vertex hemangioma who underwent presurgical embolization with Onyx (ethylene-vinyl…”
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Head bobbing due to succinic semialdehyde dehydrogenase deficiency by O'ROURKE, Declan J, RYAN, Stephanie, KING, Mary D

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Rapidly progressive renal failure associated with successful pharmacotherapy for obesity by Courtney, Aisling E., O'Rourke, Declan M., Maxwell, Alexander Peter

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Collectives of diagnostic biomarkers identify high-risk subpopulations of hematuria patients: exploiting heterogeneity in large-scale biomarker data by Emmert-Streib, Frank, Abogunrin, Funso, de Matos Simoes, Ricardo, Duggan, Brian, Ruddock, Mark W, Reid, Cherith N, Roddy, Owen, White, Lisa, O'Kane, Hugh F, O'Rourke, Declan, Anderson, Neil H, Nambirajan, Thiagarajan, Williamson, Kate E

“…Ineffective risk stratification can delay diagnosis of serious disease in patients with hematuria. We applied a systems biology approach to analyze clinical,…”
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Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding by O’Rourke, Declan John, Twomey, Eilish, Lynch, Sally-Ann, King, Mary D.

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Barium sulphate particles in breast mimicking malignant type microcalcification by Bamford, Louise, Lioe, Tong F, O'Rourke, Declan M, Buckley, Miriam R E

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An early analysis of the cost-effectiveness of a diagnostic classifier for risk stratification of haematuria patients (DCRSHP) compared to flexible cystoscopy in the diagnosis of bladder cancer by Sutton, Andrew J, Lamont, John V, Evans, R Mark, Williamson, Kate, O'Rourke, Declan, Duggan, Brian, Sagoo, Gurdeep S, Reid, Cherith N, Ruddock, Mark W

“…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…”
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Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy by Gowda, Vasantha Lakshmi, Fernandez, Miguel, Prasad, Manish, Childs, Anne-Marie, Hughes, Imelda, Tirupathi, Sandya, De Goede, Christian Gaudentius Engelbert Lourens, O’Rourke, Declan, Parasuraman, Deepak, Willis, Tracey, Saberian, Samira, Davidson, Ian

“…ObjectiveTo describe age and time at key stages in the Duchenne muscular dystrophy (DMD) prediagnosis pathway at selected centres to identify opportunities for…”
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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder by Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

“…Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other…”
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Stratifying risk of disease in haematuria patients using machine learning techniques to improve diagnostics by Drożdż, Anna, Duggan, Brian, Ruddock, Mark W, Reid, Cherith N, Kurth, Mary Jo, Watt, Joanne, Irvine, Allister, Lamont, John, Fitzgerald, Peter, O'Rourke, Declan, Curry, David, Evans, Mark, Boyd, Ruth, Sousa, Jose

“…Detailed and invasive clinical investigations are required to identify the causes of haematuria. Highly unbalanced patient population (predominantly male) and…”
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Nebulized Pentamidine-Induced Acute Renal Allograft Dysfunction by Prabhavalkar, Siddhesh, Masengu, Agnes, O'Rourke, Declan, Shields, Joanne, Courtney, Aisling

“…Acute kidney injury (AKI) is a recognised complication of intravenous pentamidine therapy. A direct nephrotoxic effect leading to acute tubular necrosis has…”
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