• Ability of fracture risk assessment tool and national osteoporosis guideline group guidance to stratify people appropriately before fracture.

      Brewer, Linda; Mellon, Lisa; Duggan, Joseph; Department of Medicine for the Older Person, Mater Misericordiae University Hospital, Dublin, Ireland. (2013-09)
    • Accrual to Cancer Clinical Trials

      Kelly, C; Smith, M; Flynn, S; Reyes, A; Higgins, M; McCaffrey, J; Kelly, C (Irish Medical Journal, 2016-07)
      Accrual to cancer clinical trials (CCT) is imperative to safeguard continued improvement in cancer outcomes. A retrospective chart review was performed of patients (n=140) starting a new anti-cancer agent in a north Dublin cancer centre. This review was performed over a four-month period, beginning in November 2015. Only 29% (n=41) had a CCT option. The overall accrual rate to CCT was 5% (n=7), which is comparable to internationally reported figures. The main reasons for failure to recruit to CCT included the lack of a CCT option for cancer type (n=30, 23%), stage (n=25, 19%), and line of treatment (n=23, 17%). Over the last decade, the rate of accrual to CCTs has in fact doubled and the number of trials open to recruitment has tripled. Ongoing governmental and philanthropic support is necessary to continue this trend to further expand CCT patient options with a target accrual rate of 10%.
    • Acquired Anterior Laryngeal Web in a Shotgun Injury

      Lennon, P; Lang, E; O Dwyer, T (Irish Medical Journal, 2015-06)
      We report the first case of an anterior laryngeal web post gunshot wound in the modern literature. A 27 year-old man suffered a close range shotgun injury to his neck. He presented with stridor and a large open neck wound. Emergency tracheostomy was required. A postoperative fibreoptic laryngoscopy revealed anterior glottic web formation. This case report highlights the difficulties in managing acquired anterior laryngeal webs and reviews the only other case in the in the literature from 1915.
    • Acute exacerbations and pulmonary hypertension in advanced idiopathic pulmonary fibrosis.

      Judge, Eoin P; Fabre, Aurelie; Adamali, Huzaifa I; Egan, Jim J; Dept of Respiratory Medicine, and Irish National Lung Transplant Unit, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland. eoinjudge@yahoo.com (2012-07)
      The aim of this study was to evaluate the risk factors for and outcomes of acute exacerbations in patients with advanced idiopathic pulmonary fibrosis (IPF), and to examine the relationship between disease severity and neovascularisation in explanted IPF lung tissue. 55 IPF patients assessed for lung transplantation were divided into acute (n=27) and non-acute exacerbation (n=28) groups. Haemodynamic data was collected at baseline, at the time of acute exacerbation and at lung transplantation. Histological analysis and CD31 immunostaining to quantify microvessel density (MVD) was performed on the explanted lung tissue of 13 transplanted patients. Acute exacerbations were associated with increased mortality (p=0.0015). Pulmonary hypertension (PH) at baseline and acute exacerbations were associated with poor survival (p<0.01). PH at baseline was associated with a significant risk of acute exacerbations (HR 2.217, p=0.041). Neovascularisation (MVD) was significantly increased in areas of cellular fibrosis and significantly decreased in areas of honeycombing. There was a significant inverse correlation between mean pulmonary artery pressure and MVD in areas of honeycombing. Acute exacerbations were associated with significantly increased mortality in patients with advanced IPF. PH was associated with the subsequent development of an acute exacerbation and with poor survival. Neovascularisation was significantly decreased in areas of honeycombing, and was significantly inversely correlated with mean pulmonary arterial pressure in areas of honeycombing.
    • Acute Nontraumatic Spinal Intradural Hematoma in a Patient on Warfarin.

      Bruce-Brand, Robert A; Colleran, Gabrielle C; Broderick, James M; Lui, Darren F; Smith, Eimear M; Kavanagh, Eoin C; Poynton, Ashley R; Department of Trauma and Orthopaedic Surgery, Mater Misericordiae University Hospital, Dublin, Ireland. (2013-08-26)
      Nontraumatic spinal intradural extramedullary hematomas are extremely rare. When they occur, they can rapidly lead to spinal cord or cauda equina compression and have devastating consequences.
    • Alexia without Agraphia

      E Mulroy, E; Murphy, S; Lynch, T (Irish Medical Journal, 2011-04)
    • Anatomy and bronchoscopy of the porcine lung. A model for translational respiratory medicine.

      Judge, Eoin P; Hughes, J M Lynne; Egan, Jim J; Maguire, Michael; Molloy, Emer L; O'Dea, Shirley; 1 Irish National Lung and Heart Transplant Program, Mater Misericordiae University Hospital, Dublin, Ireland. (2014-09)
      The porcine model has contributed significantly to biomedical research over many decades. The similar size and anatomy of pig and human organs make this model particularly beneficial for translational research in areas such as medical device development, therapeutics and xenotransplantation. In recent years, a major limitation with the porcine model was overcome with the successful generation of gene-targeted pigs and the publication of the pig genome. As a result, the role of this model is likely to become even more important. For the respiratory medicine field, the similarities between pig and human lungs give the porcine model particular potential for advancing translational medicine. An increasing number of lung conditions are being studied and modeled in the pig. Genetically modified porcine models of cystic fibrosis have been generated that, unlike mouse models, develop lung disease similar to human cystic fibrosis. However, the scientific literature relating specifically to porcine lung anatomy and airway histology is limited and is largely restricted to veterinary literature and textbooks. Furthermore, methods for in vivo lung procedures in the pig are rarely described. The aims of this review are to collate the disparate literature on porcine lung anatomy, histology, and microbiology; to provide a comparison with the human lung; and to describe appropriate bronchoscopy procedures for the pig lungs to aid clinical researchers working in the area of translational respiratory medicine using the porcine model.
    • Aspergilloma

      Murphy, D; Murray, J; Gaine, S (Irish Medical Journal, 2013-09)
      A 71 year-old man presented for pre-operative assessment prior to a radical neck dissection for squamous cell carcinoma of the tongue. He was an ex-smoker, with known pulmonary fibrosis and bronchiectasis of undetermined aetiology. He denied any respiratory symptoms with no shortness of breath, cough or wheeze. Respiratory examination was notable only for bibasal crackles. Blood work was normal. His mantoux skin test was negative. Imaging evaluation was initially with a chest radiograph, followed by a CT scan of the chest. Both of these examinations are shown in figures 1 and 2 respectively.
    • Association between acute statin therapy, survival, and improved functional outcome after ischemic stroke: the North Dublin Population Stroke Study.

      Ní Chróinín, Danielle; Callaly, Elizabeth L; Duggan, Joseph; Merwick, Áine; Hannon, Niamh; Sheehan, Órla; Marnane, Michael; Horgan, Gillian; Williams, Emma B; Harris, Dawn; et al. (2011-04)
      Statins improve infarct volume and neurological outcome in animal stroke models. We investigated the relationship between statin therapy and ischemic stroke outcome in the North Dublin Population Stroke Study.
    • Atypical stress-avulsion fracture of the Lisfranc joint complex.

      O'Neill, Barry J; Sweeney, Laura A; Moroney, Paul J; Mulhall, Kevin J; Department of Trauma and Orthopaedics, Mater Misericordiae University Hospital, Ireland. (2014-04)
      Antiphospholipid syndrome and systemic erythematosus have been associated with metatarsal stress fractures. Stress fractures of the Lisfranc joint complex are uncommon injuries but have been reported to occur most frequently in ballet dancers. We present a case of an avulsion fracture of the Lisfranc joint complex that occurred spontaneously. We have reviewed the association between systemic conditions and metatarsal fractures and proposed a series of hypothetical pathological events that may have contributed to this unusual injury.
    • Bacteraemia in the ED: Are We Meeting Targets?

      Borhan, N; Borhan, F; Ni Cheallaigh, C; Dinesh, B; O’Reilly, K; Moughty, A (Irish Medical Journal, 2018-03)
      When sepsis is identified early in the Emergency Department (ED) and its severe form is treated aggressively with the protocolised care bundle of early goal directed therapy (EGDT), improvements in mortality are significant1,2. Surviving sepsis guidelines recommend the administration of effective intravenous antimicrobials within the first hour of recognition of septic shock and severe sepsis without septic shock3. The Mater University Hospital has antimicrobial guidelines to guide empiric prescribing in adult sepsis available on the hospital intranet and on a smartphone app.
    • Beta-Hemolytic Streptococcal Infective Endocarditis: Characteristics and Outcomes From a Large, Multinational Cohort.

      Fernández Hidalgo, Núria; Gharamti, Amal A; Aznar, María Luisa; Almirante, Benito; Yasmin, Mohamad; Fortes, Claudio Querido; Plesiat, Patrick; Doco-Lecompte, Thanh; Rizk, Hussein; Wray, Dannah; et al. (2020-04-10)
      Among 1336 definite cases of streptococcal IE, 823 were caused by VGS and 147 by BHS. Patients with BHS IE had a lower prevalence of native valve (P < .005) and congenital heart disease predisposition (P = .002), but higher prevalence of implantable cardiac device predisposition (P < .005). Clinically, they were more likely to present acutely (P < .005) and with fever (P = .024). BHS IE was more likely to be complicated by stroke and other systemic emboli (P < .005). The overall in-hospital mortality of BHS IE was significantly higher than that of VGS IE (P = .001). In univariate analysis, variables associated with in-hospital mortality for BHS IE were age (odds ratio [OR], 1.044; P = .004), prosthetic valve IE (OR, 3.029; P = .022), congestive heart failure (OR, 2.513; P = .034), and stroke (OR, 3.198; P = .009).
    • Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

      Schottlaender, Lucia V; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou-Fragkouli, Alkyoni; et al. (2020-03-05)
      Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromosome 21q21.3 and identified bi-allelic variants in JAM2. JAM2 encodes for the junctional-adhesion-molecule-2, a key tight-junction protein in blood-brain-barrier permeability. We show that JAM2 variants lead to reduction of JAM2 mRNA expression and absence of JAM2 protein in patient's fibroblasts, consistent with a loss-of-function mechanism. We show that the human phenotype is replicated in the jam2 complete knockout mouse (jam2 KO). Furthermore, neuropathology of jam2 KO mouse showed prominent vacuolation in the cerebral cortex, thalamus, and cerebellum and particularly widespread vacuolation in the midbrain with reactive astrogliosis and neuronal density reduction. The regions of the human brain affected on neuroimaging are similar to the affected brain areas in the myorg PFBC null mouse. Along with JAM3 and OCLN, JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification.
    • Bilateral Plantar Fibromatosis

      Newman, C; McQuaid, S.E (Irish Medical Journal, 2019-04)
      Plantar fibromastosis is a hyperproliferative disorder of the plantar fascia which predominantly affects males over the age of fifty. Its etiology is incompletely understood; however up to 42% of affected patients also have a diagnosis of Diabetes Mellitus.
    • A Borderline Ovarian Tumour in a Patient with Classic Bladder Exstrophy; a Case Report.

      Beauchamp, K; Ryan, G; Gibney, B; Walsh, T; Brennan, D (Irish Medical Journal, 2018-02)
      A 37-year-old Romanian lady presented with a large pelvic mass, urosepsis and deteriorating renal function. She had undergone separation from her conjoined twin. Imaging revealed grossly abnormal anatomy and a suspicious pelvic mass. Examination was consistent with classic bladder exstrophy. Postoperative histology showed borderline ovarian tumour (BTO)
    • Breast cancer genomics: challenges in interpretation and application.

      Kelly, Cathy M; Symmans, W Fraser; Andreopoulou, Eleni; Bianchini, Giampaolo; Mater Misericordiae University Hospital, Dublin, Ireland; (2013)
    • Can anaesthetic and analgesic techniques affect cancer recurrence or metastasis?

      Heaney, A; Buggy, D J; Department of Anaesthesia, Mater Misericordiae University Hospital, University College Dublin, Dublin, Ireland. (2012-12)
      Summary Cancer is a leading cause of morbidity and mortality worldwide and the ratio of incidence is increasing. Mortality usually results from recurrence or metastases. Surgical removal of the primary tumour is the mainstay of treatment, but this is associated with inadvertent dispersal of neoplastic cells into the blood and lymphatic systems. The fate of the dispersed cells depends on the balance of perioperative factors promoting tumour survival and growth (including surgery per se, many anaesthetics per se, acute postoperative pain, and opioid analgesics) together with the perioperative immune status of the patient. Available evidence from experimental cell culture and live animal data on these factors are summarized, together with clinical evidence from retrospective studies. Taken together, current data are sufficient only to generate a hypothesis that an anaesthetic technique during primary cancer surgery could affect recurrence or metastases, but a causal link can only be proved by prospective, randomized, clinical trials. Many are ongoing, but definitive results might not emerge for a further 5 yr or longer. Meanwhile, there is no hard evidence to support altering anaesthetic technique in cancer patients, pending the outcome of the ongoing clinical trials.
    • Can the National Health Service Cancer Plan timeline be applied to colorectal hepatic metastases?

      Jones, Claire; Badger, Stephen A; McClements, Jane; McKie, Lloyd; Diamond, Tom; Taylor, Mark A; Hepatobiliary Surgical Unit, Mater Hospital, Belfast, UK. cjones82@hotmail.co.uk (2012-02-01)
      INTRODUCTION: The National Health Service (NHS) Cancer Plan guidelines recommend a maximum 2-week wait from referral to first appointment, and 2 months from referral to treatment for primary cancers. However, there are currently no guidelines available for metastatic disease. In the UK, nearly half of all colorectal cancer patients develop hepatic metastases. Timely, surgical resection offers the potential for cure. The aim of this study was to audit current practice for colorectal liver metastases in a regional hepatobiliary unit, and compare this to the NHS Cancer Plan standards for primary disease. PATIENTS AND METHODS: A retrospective review of the unit's database was performed for all hepatic metastases referrals from January 2006 to December 2008. The dates of referral, first appointment, investigations and initiation of treatment, along with patient's age and sex, were recorded on Microsoft Excel and analysed. Time was expressed as mean +/- SD in days. RESULTS: A total of 102 patients with hepatic metastases were identified. Five were excluded due to incomplete data. The average time from referral to first appointment was 10.6 +/- 9.4 days and the average time from referral to treatment was 38.5 +/- 28.6 days. Seventy-five (72.7%) had surgical intervention, of whom 37 also had chemotherapy. CONCLUSIONS: The data compare favourably to the NHS Cancer Plan guidelines for primary malignancy, demonstrating that a regional hepatobiliary unit is capable of delivering a service for colorectal liver metastases that adheres to the NHS Cancer Plan. Therefore, the NHS Cancer Plan can be applied to this cohort.
    • Cancer-Related Fatigue in Women With Breast Cancer: Outcomes of a 5-Year Prospective Cohort Study.

      Goldstein, David; Bennett, Barbara K; Webber, Kate; Boyle, Fran; de Souza, Paul L; Wilcken, Nicholas R C; Scott, Elizabeth M; Toppler, Ruth; Murie, Penelope; O'Malley, Linda; et al. (2012-04-16)
      PURPOSEProlonged and disabling fatigue is prevalent after cancer treatment, but the early natural history of cancer-related fatigue (CRF) has not been systematically examined to document consistent presence of symptoms. Hence, relationships to cancer, surgery, and adjuvant therapy are unclear. PATIENTS AND METHODSA prospective cohort study of women receiving adjuvant treatment for early-stage breast cancer was conducted. Women (n = 218) were enrolled after surgery and observed at end treatment and at 1, 3, 6, 9, and 12 months as well as 5 years. Structured interviews and self-report questionnaires were used to record physical and psychologic health as well as disability and health care utilization. Patients with CRF persisting for 6 months were assessed to exclude alternative medical and psychiatric causes of fatigue. Predictors of persistent fatigue, mood disturbance, and health care utilization were sought by logistic regression.ResultsThe case rate for CRF was 24% (n = 51) postsurgery and 31% (n = 69) at end of treatment; it became persistent in 11% (n = 24) at 6 months and 6% (n = 12) at 12 months. At each time point, approximately one third of the patients had comorbid mood disturbance. Persistent CRF was predicted by tumor size but not demographic, psychologic, surgical, or hematologic parameters. CRF was associated with significant disability and health care utilization. CONCLUSIONCRF is common but generally runs a self-limiting course. Much of the previously reported high rates of persistent CRF may be attributable to factors unrelated to the cancer or its treatment.
    • Case 1: Chronic thromboembolic pulmonary hypertension (CTEPH)

      Murphy, DT; Murphy, DM; Murray, JG; Gaine, SP (Irish Medical Journal, 2013-05)
      A 32 year-old man was referred to the pulmonary hypertension unit with increasing dyspnoea and multiple recent syncopal episodes. He had suffered a pulmonary embolism at the age of 17 and had received an appropriate course of warfarin therapy. Afterwards, he had remained well and in full-time employment until a recent presentation to his local hospital with increasing dyspnoea and syncope occurring episodically over a period of a few months. A computed tomographic pulmonary angiogram (CTPA) performed there was reported as showing evidence of pulmonary embolus.