• 051 Valproate and the risk for congenital malformations; is formulation and dosage regime important?

      Mawhinney, E.; Campbell, J.; Craig, J.; Russell, A.; Smithson, W.; Parsons, L.; Robertson, I.; Irwin, B.; Morrison, P.; Liggan, B.; et al. (2012)
    • 10th annual research conference celebrating health researchers from the North West: Conference booklet Research & Education Foundation Sligo General Hospital

      Research & Education Foundation Sligo General Hospital (Research & Education Foundation Sligo General Hospital, 2009-11-28)
    • 116. Identification of pharmacological chaperones for feline and human GM1 gangliosidosis

      Rigat, Brigitte; Michael, Tropak; Crushell, Ellen; Daphne, Benedict; Martin, Douglas; Stuetz, Arnold; Callahan, John; Mahuran, Don (2009)
      WORLD (Research in Lysosomal Disease)meeting 2009
    • 11beta-hydroxysteroid dehydrogenase type 1 regulates glucocorticoid-induced insulin resistance in skeletal muscle.

      Morgan, Stuart A; Sherlock, Mark; Gathercole, Laura L; Lavery, Gareth G; Lenaghan, Carol; Bujalska, Iwona J; Laber, David; Yu, Alice; Convey, Gemma; Mayers, Rachel; et al. (Diabetes, 2009-11)
      Glucocorticoid excess is characterized by increased adiposity, skeletal myopathy, and insulin resistance, but the precise molecular mechanisms are unknown. Within skeletal muscle, 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) converts cortisone (11-dehydrocorticosterone in rodents) to active cortisol (corticosterone in rodents). We aimed to determine the mechanisms underpinning glucocorticoid-induced insulin resistance in skeletal muscle and indentify how 11beta-HSD1 inhibitors improve insulin sensitivity.
    • 11th annual research conference: Conference booklet Research & Education Centre Sligo General Hospital

      Research & Education Centre Sligo General Hospital (Research & Education Centre Sligo General Hospital, 2010-11-26)
    • A 12-year review of Staphylococcus aureus bloodstream infections in haemodialysis patients: more work to be done.

      Fitzgerald, S F; O'Gorman, J; Morris-Downes, M M; Crowley, R K; Donlon, S; Bajwa, R; Smyth, E G; Fitzpatrick, F; Conlon, P J; Humphreys, H; et al. (2012-02-01)
      Staphylococcus aureus bloodstream infections (BSI) are a significant cause of morbidity and mortality in haemodialysis patients. This study describes a 12-year retrospective review of S. aureus BSI in a large haemodialysis centre in a tertiary referral hospital. The overall rate of S. aureus BSI was 17.9 per 100 patient-years (range 9.7-36.8). The rate of meticillin-resistant S. aureus (MRSA) BSI was 5.6 per 100 patient-years (range 0.9-13.8). Infective complications occurred in 11% of episodes, the most common being infective endocarditis (7.6%). Ten percent of patients died within 30 days of S. aureus being isolated from blood. Most cases of S. aureus BSI (83%) were related to vascular catheters. The provision of lower-risk vascular access, such as arteriovenous fistulae, and reduced use of intravascular catheters should be priorities in all haemodialysis units. Where alternative vascular access cannot be established, interventions to reduce the risk of catheter-related infections should be implemented to reduce morbidity and mortality in this vulnerable patient group.
    • The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

      Lynch, Sally Ann; Foulds, Nicola; Thuresson, Ann-Charlotte; Collins, Amanda L; Annerén, Göran; Hedberg, Bernt-Oves; Delaney, Carol A; Iremonger, James; Murray, Caroline M; Crolla, John A; et al. (2011-05)
      We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included HMGA2, and both children had significant short stature. Neither case had osteopoikilosis despite both being deleted for LEMD3. Four cases had deletions that ended proximal to HMGA2 and all of these had much better growth. Five cases had congenital heart defects, including two with atrial septal defects, one each with pulmonary stenosis, sub-aortic stenosis and a patent ductus. Four cases had moderate delay, two had severe developmental delay and a further two had a diagnosis of autism. All six cases had significant speech delay with subtle facial dysmorphism.
    • 14-3-3 σ expression effects G2/M response to oxygen and correlates with ovarian cancer metastasis.

      Ravi, Dashnamoorthy; Chen, Yidong; Karia, Bijal; Brown, Adam; Gu, Ting Ting; Li, Jie; Carey, Mark S; Hennessy, Bryan T; Bishop, Alexander J R; Greehey Children's Cancer Research Institute, University of Texas Health Science Center, San Antonio, Texas, United States of America. (2011)
      In vitro cell culture experiments with primary cells have reported that cell proliferation is retarded in the presence of ambient compared to physiological O₂ levels. Cancer is primarily a disease of aberrant cell proliferation, therefore, studying cancer cells grown under ambient O₂ may be undesirable. To understand better the impact of O₂ on the propagation of cancer cells in vitro, we compared the growth potential of a panel of ovarian cancer cell lines under ambient (21%) or physiological (3%) O₂.
    • 17beta-estradiol rapidly mobilizes intracellular calcium from ryanodine-receptor-gated stores via a PKC-PKA-Erk-dependent pathway in the human eccrine sweat gland cell line NCL-SG3.

      Muchekehu, Ruth W; Harvey, Brian J; Molecular Medicine Laboratories, Royal College of Surgeons in Ireland, RCSI Education and Research Centre, Smurfit Building, Beaumont Hospital, P.O. Box 9063, Dublin 9, Ireland. rmuchekehu@ucsd.edu (2008-09)
      We describe a novel rapid non-genomic effect of 17beta-estradiol (E2) on intracellular Ca2+ ([Ca2+]i) signalling in the eccrine sweat gland epithelial cell line NCL-SG3. E2 had no observable effect on basal [Ca2+]i, however exposure of cells to E2 in the presence of the microsomal Ca2+ ATPase pump inhibitor, thapsigargin, produced a secondary, sustained increase in [Ca2+]i compared to thapsigargin treatment alone, where cells responded with a transient single spike-like increase in [Ca2+]i. The E2-induced increase in [Ca2+]i was not dependent on the presence of extracellular calcium and was completely abolished by ryanodine (100 microM). The estrogen receptor antagonist ICI 182,780 (1 microM) prevented the E2-induced effects suggesting a role for the estrogen receptor in the release of [Ca2+]i from ryanodine-receptor-gated stores. The E2-induced effect on [Ca2+]i could also be prevented by the protein kinase C delta (PKCdelta)-specific inhibitor rottlerin (10 microM), the protein kinase A (PKA) inhibitor Rp-adenosine 3',5'-cyclic monophosphorothioate (200 microM) and the MEK inhibitor PD98059 (10 microM). We established E2 rapidly activates the novel PKC isoform PKCepsilon, PKA and Erk 1/2 MAPK in a PKCdelta and estrogen-receptor-dependent manner. The E2-induced effect was specific to 17beta-estradiol, as other steroids had no effect on [Ca2+]i. We have demonstrated a novel mechanism by which E2 rapidly modulates [Ca2+]i release from ryanodine-receptor-gated intracellular Ca2+ stores. The signal transduction pathway involves the estrogen receptor coupled to a PKC-PKA-Erk 1/2 signalling pathway.
    • An 18FDG-PET/CT finding of a mediastinal abscess.

      Purcell, Yvonne Marie; Hegarty, Chris; Sharaf, Osama; Fabre, Aurélie; Skehan, Stephen J; St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland. yvonne.purcell@gmail.com (2013-02)
      A 66-year-old man with left pyriform fossa squamous cell carcinoma (T2N0) was treated with chemoradiation. Nine months later, an emergency tracheostomy was performed for respiratory distress. Contrast-enhanced neck and thorax CT demonstrated a right pyriform mass. FDG-PET/CT showed linear increased uptake extending superiorly from the tracheostomy to the right Eustachian tube and inferiorly to the posterior mediastinum. Postmortem examination confirmed a 7 × 2.2 cm abscess extending from the right parapharyngeal, peritracheal, and prevertebral structures to the mediastinum.
    • 20 year old lady with a paraspinal mass.

      O'Toole, Orna; O'Hare, Alan; Grogan, Liam; Bolger, Ciaran; Brett, Francesca M; Department of Neuropathology, Beaumont Hospital, Dublin, UK. (2010-05)
      A 20 year old female presented with a 4 month history of right upper limb pain and paraesthesias. She had no systemic symptoms and no prior medical or family history of note. MRI revealed a right-sided intradural extramedullary mass extending from C7-T1 and displacing the spinal cord. While awaiting surgery her symptoms progressed to involve the right lower limb. She was re-imaged and the lesion now extended from C5 to T3 with spinal cord compression at C7-T1. The radiological features and recent rapid growth were felt to be in keeping with a large plexiform neurofibroma. The patient underwent emergency resection of the lesion and pathology revealed Hodgkin's Lymphoma (HL)-mixed cellularity type. A mediastinal mass was identified on further imaging and biopsy confirmed the diagnosis of HL-stage IV. The patient is currently undergoing treatment with ABVD chemotherapy. CNS-HL is extremely rare and may occur de novo or in association with systemic disease. Lesions may be parenchymal or dural based and are usually intracranial with an increased risk of CNS involvement in HL-mixed-cellularity type as in our patient. This is the first report in the literature of CNS-HL radiologically mimicking a paraspinal plexiform neurofibroma.
    • 2016 WSES guidelines on acute calculous cholecystitis.

      Ansaloni, L; Pisano, M; Coccolini, F; Peitzmann, A B; Fingerhut, A; Catena, F; Agresta, F; Allegri, A; Bailey, I; Balogh, Z J; et al. (World journal of emergency surgery : WJES, 2016)
      Acute calculus cholecystitis is a very common disease with several area of uncertainty. The World Society of Emergency Surgery developed extensive guidelines in order to cover grey areas. The diagnostic criteria, the antimicrobial therapy, the evaluation of associated common bile duct stones, the identification of "high risk" patients, the surgical timing, the type of surgery, and the alternatives to surgery are discussed. Moreover the algorithm is proposed: as soon as diagnosis is made and after the evaluation of choledocholitiasis risk, laparoscopic cholecystectomy should be offered to all patients exception of those with high risk of morbidity or mortality. These Guidelines must be considered as an adjunctive tool for decision but they are not substitute of the clinical judgement for the individual patient.
    • 2017 update of the WSES guidelines for emergency repair of complicated abdominal wall hernias.

      Birindelli, Arianna; Sartelli, Massimo; Di Saverio, Salomone; Coccolini, Federico; Ansaloni, Luca; van Ramshorst, Gabrielle H; Campanelli, Giampiero; Khokha, Vladimir; Moore, Ernest E; Peitzman, Andrew; et al. (BioMed Central, 2017)
      Emergency repair of complicated abdominal wall hernias may be associated with worsen outcome and a significant rate of postoperative complications. There is no consensus on management of complicated abdominal hernias. The main matter of debate is about the use of mesh in case of intestinal resection and the type of mesh to be used. Wound infection is the most common complication encountered and represents an immense burden especially in the presence of a mesh. The recurrence rate is an important topic that influences the final outcome. A World Society of Emergency Surgery (WSES) Consensus Conference was held in Bergamo in July 2013 with the aim to define recommendations for emergency repair of abdominal wall hernias in adults. This document represents the executive summary of the consensus conference approved by a WSES expert panel. In 2016, the guidelines have been revised and updated according to the most recent available literature.
    • A 25 analysis of perinatal mortality following placental abruption

      Ogunlewe, O; Moore, R; Walsh, J; Foley, M; Mahony, R (American Journal of Obstetrics and Gynecology, 2011-01)
      Society for Maternal-Fetal Medicine. The Pregnancy Meeting Feb 2011
    • 28th annual report of the National Rehabilitation Hospital 2008

      National Rehabilitation Hospital (National Rehabilitation Hospital, 2009)
    • 29th annual report of the National Rehabilitation Hospital 2009

      National Rehabilitation Hospital (National Rehabilitation Hospital, 2010)