Recent Submissions

  • Transcriptome level analysis in Rett syndrome using human samples from different tissues.

    Shovlin, Stephen; Tropea, Daniela (Orphanet Journal of Rare Diseases, 2018-07-11)
    The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the consequences of the genetic mutation. This is the case for Rett Syndrome (RTT): a neurodevelopmental disorder predominantly affecting females that is characterised by a loss of purposeful movements and language accompanied by gait abnormalities and hand stereotypies. Although the genetic aetiology is largely associated to Methyl CpG binding protein 2 (MECP2) mutations, linking the pathophysiology of RTT and its clinical symptoms to direct molecular mechanisms has been difficult. One approach used to study the consequences of MECP2 dysfunction in patients, is to perform transcriptomic analysis in tissues derived from RTT patients or Induced Pluripotent Stem cells. The growing affordability and efficiency of this approach has led to a far greater understanding of the complexities of RTT syndrome but is also raised questions about previously held convictions such as the regulatory role of MECP2, the effects of different molecular mechanisms in different tissues and role of X Chromosome Inactivation in RTT. In this review we consider the results of a number of different transcriptomic analyses in different patients-derived preparations to unveil specific trends in differential gene expression across the studies. Although the analyses present limitations- such as the limited sample size- overlaps exist across these studies, and they report dysregulations in three main categories: dendritic connectivity and synapse maturation, mitochondrial dysfunction, and glial cell activity. These observations have a direct application to the disorder and give insights on the altered mechanisms in RTT, with implications on potential diagnostic criteria and treatments.
  • Mycoplasma Pneumonia: Late Treatment Leading to Acute Respiratory Distress Syndrome and Renal Failure.

    Cummiskey, A Graham; Reardon, Michael (European Journal of Case Reports in Internal Medicine, 2019-01-01)
    Mycoplasma pneumonia is one of the most common types of pneumonia, although it is often not diagnosed due to mild clinical course.
  • An Unusual Case of a Facial Guard Causing Penetrating Soft Tissue Injury in the Game of Hurling

    Farrell, T; McDonald, C.; Sheehan, E. (Irish Medical Journal, 2019-02)
    Hurling is a fast-paced impact sport that is known to be associated with trauma to the head, face and hands1. Helmets with facial guards have been introduced by the Gaelic athletic association (GAA) in 2010 as a means of preventing head and maxillofacial injuries. Although the national safety authority of Ireland (NSAI) identify certain standards for hurling helmets, modifications are known to be quite common2. A recent study by O’Connor (2018) showed that 31% of players surveyed from a total of 304 had modified their helmet in some fashion either by changing the faceguard completely or removal of single bars. The main reasons given for modification were; restricted vision, comfort and perceived poor quality of the helmet/faceguard. Anecdotally, players may modify one’s helmet to help improve peripheral vision and thus situational awareness. In the literature, there exists only one case of penetrating injury from a facial guard of a hurling helmet3. The trend of modifying helmets seems to be increasing the incidence of these serious injuries. We believe that there is a general lack of awareness among players and officials as to the dangers of modifying protective equipment. We present the case of a penetrating hand injury as a direct result of a modified facial guard where a single bar was removed.
  • Is birth weight the major confounding factor in the study of gestational weight gain?: an observational cohort study.

    O'Higgins, Amy C; Doolan, Anne; McCartan, Thomas; Mullaney, Laura; O'Connor, Clare; Turner, Michael J (BMC Pregnancy & Childbirth, 2018-06-07)
    Much interest has been focussed on both maternal obesity and gestational weight gain (GWG), particularly on their role in influencing birth weight (BW). Several large reviews have reported that excessive GWG is associated with an increase in BW Women were enrolled at their convenience before 18 weeks gestation. Height and weight were measured accurately at the first antenatal visit and BMI calculated. Maternal weight was measured again after 37 weeks gestation. The weight of the baby was measured at birth. Relationships were tested using linear regression analysis, chi-squared tests and t-tests as appropriate. Of the 522 women studied, the mean BMI was 25.3 kg/m The positive correlation between GWG in pregnancy and BW can be accounted for by the contribution of fetal weight to GWG antenatally without a contribution from increased maternal adiposity. There was a wide range of BW irrespective of the degree of GWG and obese women had a lower GWG than non-obese women. These findings help explain why Randomized Controlled Trials (RCTs) designed to reduce GWG have failed to decrease BW and suggest there is no causative link between excessive GWG and increased BW.
  • Analysis of inflammatory cytokine and TLR expression levels in Type 2 Diabetes with complications.

    Gupta, Saket; Maratha, Ashwini; Siednienko, Jakub; Natarajan, Anandan; Gajanayake, Thusitha; Hoashi, Shu; Miggin, Sinéad (Scientific Reports, 2017-08-09)
    The pathogenesis and complications of type 2 diabetes (T2DM) are closely linked with defective glucose metabolism, obesity, cardiovascular disease and an inability to mount an effective immune response to certain pathogenic organisms. Perturbations in key innate immune receptors known as Toll-like receptors (TLRs) and inflammatory mediators such as IL-6, TNFα and IL-1β have been linked with T2DM. Herein, we sought to establish whether patients with T2DM and underlying complications exhibit perturbations in cytokine and TLR expression. Serum cytokine and mRNA levels of cytokines/TLRs in monocytes (M) and neutrophils (N) were measured in a cohort of 112 diabetic patients: good glycaemic control without complications (GC), good glycaemic control with complications (GCC), poor glycaemic control without complications (PC) and poor glycaemic control with complications (PCC) and compared them with 34 non-diabetic volunteers (NGT). Serum cytokine levels were normal in all study participants. In the GC group, cytokine and TLR gene expression were enhanced compared to NGT. In contrast, suppressed cytokine and TLR gene expression were evident in PC, GCC & PCC groups when compared to the GC. In conclusion, whereas serum pro-inflammatory cytokine levels are unaltered in T2DM patients, differences in inflammatory gene profiles exist among the T2DM patient groups.
  • Intramuscular versus intravenous oxytocin to prevent postpartum haemorrhage at vaginal delivery: randomised controlled trial.

    Adnan, Nita; Conlan-Trant, Rebecca; McCormick, Ciara; Boland, Fiona; Murphy, Deirdre J (BMJ, 2018-09-04)
    To determine whether intravenous oxytocin is more effective than intramuscular oxytocin at preventing postpartum haemorrhage at vaginal delivery. Double blind placebo controlled randomised trial. University affiliated maternity unit in the Republic of Ireland. 1075 women aged 18 years or older, at term with a singleton pregnancy who were aiming for a vaginal delivery with an actively managed third stage of labour.
  • Infliximab Induced Cardiac Tamponade

    O’Morain, N; Kumar, L; O’Carroll-Lolait, C; Alakkari, A; Ryan, B (Irish Medical Journal, 2019-03)
    Biologic therapies are increasingly used in the treatment of Inflammatory Bowel Disease. Reactions to infusion therapy are not uncommon but are mostly benign and self-limiting. Rarely, life-threatening complications can occur.
  • Continuous Glucose Monitoring in the Management of Neonatal Hypoglycaemia

    McGlacken-Byrne, S.M; O’Neill, R.; Jenkinson, A.; Murphy, J.F.A. (Irish Medical Journal, 2019-03)
    A quality improvement project was carried out in a Level 3 Neonatal Intensive Care Unit (NICU) which aimed to successfully implement the use of continuous glucose monitoring systems (CGMS) in hypoglycaemic infants. Piloting of the device revealed several potential practical barriers to its reliably successful implementation. Five Plan-Do-Study-Act (PDSA) cycles followed, tackling these problems and other issues inductively identified throughout the project. Parents and multi-professional stakeholders were involved and consulted throughout. Change was measured on a runchart using qualitative and quantitative feedback. Problem rate per patient was reduced to zero by the end of a one-month study period. This study used basic quality improvement methodologies to implement a change intervention in a structured manner and elucidated aspects of its use that need to be adapted for its successful incorporation into real-life clinical practice.
  • Scope and Safety of Paediatric Surgery in a Model III Hospital

    Joyce, P.D; Craig, R; Dakin, A.; Elsheik, E.; Ejaz, T.; Mansoor, S.; Toomey, D.P. (Irish Medical Journal, 2019-03)
    In 2016 the Faculty of Paediatrics in the Royal College of Physicians of Ireland, in conjunction with the Royal College of in Surgeons Ireland and the Health Service Executive, published the National Clinical Programme for Paediatrics and Neonatology: improving services for general paediatric surgery1. The purpose of these guidelines was to ensure the provision of safe and efficient paediatric general surgery outside of specialist paediatric hospitals in both local and regional paediatric surgical facilities. These guidelines were necessitated by a variety of factors including the retirement of a generation of consultant surgeons with paediatric surgical skills, a lack of paediatric surgical training for core trainees, increasing sub-specialisation within the field of general surgery with the resultant de-skilling of supporting anaesthetic, radiology and nursing colleagues, and inadequate funding of paediatric surgical services. These challenges are compounded by Ireland having the lowest number of paediatric surgeons per capita when compared to other European countries, despite having the highest birth rate in Western Europe1.
  • Is It Time To Review The Vaccination Strategy To Protect Adults Against Invasive Pneumococcal Disease?

    Corcoran, M; Mereckiene, J; Murchan, S; McElligott, M; O’Flanagan, D; Cotter, S; Cunney, R; Humphreys, H (Irish Medical Journal, 2019-03)
    Pneumococcal conjugate vaccines (PCVs) have reduced the predominant serotypes causing invasive pneumococcal disease (IPD). We assessed the impact of the paediatric 7- and 13-valent pneumococcal conjugate vaccines (PCV7 and PCV13) among older adults. We compared serotype-specific incidence rates from 2007/08 to 2016/17, expressed as incidence rate ratios (IRR). Introducing PCV7 and PCV13 into the childhood immunisation programme resulted in a decline in these serotypes in adults ≥65 years of age, with PCV7 serotypes decreasing by 85% (IRR=0.11, 95%CI: 0.05-0.22, p<0.0001) and PCV13 serotypes not included in PCV7 (PCV13-7), decreasing by 9% (IRR=0.68, 95%CI: 0.40-1.16, p=0.134). However, there was a significant increase in serotypes only found in the 23-valent polysaccharide vaccine, PPV23-PCV13: IRR=2.57, 95%CI: 1.68-4.03, p<0.0001, and non-vaccine types (NVTs), IRR=3.33, 95%CI: 1.75-6.84, p=0.0001. The decline of IPD associated with PCV7/13 serotypes and the increase in PPV23-PCV13 serotypes indicates clear serotype replacement. Increasing PPV23 uptake could still reduce the burden of disease for this population.
  • Caecal Epiploic Appendagitis Masquerading Clinically as an Acute Appendicitis: A Case Report and Brief Literature Review.

    Ejaz, Tallat; Saad, Eltaib; Nabil, Andik; Slattery, James (Case Reports in Surgery, 2019-01-01)
    A 46-year-old female presented to our emergency department (ED) with a 2-day history of right lower abdominal pain which was associated with nausea and anorexia. Abdominal examination revealed tenderness in the right iliac fossa (RIF) with rebound tenderness and a localized guarding. Urine dipstick was normal, and the pregnancy test was negative. Her laboratory investigations were significant only for a CRP of 16.6. A presumptive clinical diagnosis of acute appendicitis was suggested based on the given history and relevant physical signs. However, an abdominal computed tomography (CT) scan revealed an epiploic appendagitis of the caecum with a normal-looking appendix. She was managed conservatively and responded well and was discharged after 2 days in good health. Though being a relatively rare case of acute localized right-sided lower abdominal pain, caecal epiploic appendagitis should be considered as one of the differential diagnoses with the final diagnosis reached usually by the radiological findings due to the nonspecific nature of clinical and laboratory features.
  • Are we Over-Imaging the Obese Patient with Suspected Pulmonary Embolus in Ireland

    Gargan, M.L; O'Sullivan, M.; Hunter, K.; Buckley, O.; Torreggiani, W.C (Irish Medical Journal, 2019-02)
    To assess if there was a significant difference in the number of positive studies for pulmonary embolism between obese and non obese patients.
  • Current advances in the treatment of giant cell arteritis: the role of biologics.

    Low, Candice; Conway, Richard (Therapeutic Advances in Musculoskeletal Disease, 2019-01-01)
    Giant cell arteritis (GCA) is the most common form of systemic vasculitis. It is a potentially severe disease with 25% of patients suffering vision loss or stroke. Our treatment paradigm is based on glucocorticoids. Glucocorticoids are required in high doses for prolonged periods and subsequently are associated with a significant amount of treatment-related morbidity. Alternative treatment options are urgently needed to minimize these glucocorticoid adverse events. Many other agents, such as methotrexate and tumour necrosis factor alpha inhibitors have been used in GCA, with limited or no evidence of benefit. Our emerging understanding of the pathogenic processes involved in GCA has led to an increased interest in the use of biologic agents to treat the disease. Two randomized controlled trials have recently reported dramatic effects of the use of the interleukin-6 targeted biologic tocilizumab in GCA, with significant increases in remission rates and decreases in glucocorticoid burden. While encouraging, longer-term and additional outcomes are awaited to clarify the exact positioning of tocilizumab in the treatment approach. Emerging data for other biologic agents, particularly abatacept and ustekinumab, are also encouraging but less well advanced. We are at the dawn of a new era in GCA treatment, but uncertainties and opportunities abound.
  • Early Onset Neonatal E.Coli Sepsis

    O’Rahelly, M.; Smith, A.; Drew, R.; McCallion, N. (Irish Medical Journal, 2019-02)
    Neonatal sepsis is a major cause of neonatal morbidity and mortality in term and preterm infants. The timely identification of infants at risk of infection is of particular importance in the vulnerable preterm group1 and is a major focus of microbiological research in the Rotunda Hospital. E.coli accounts for approximately 14.1% of early onset sepsis, i.e. sepsis before 72 hours of age in our centre. E.coli is the second most common pathogen, along with coagulase negative Staphylococcus, after group B Streptococcus (GBS)2.
  • The Management of Incidental Prostate Cancer Following TURP

    Matanhelia, D.M; Croghan, S.; Nason, G.J; O’Connell, C.; Galvin, D.J.; 1. St Vincent’s University Hospital 2. Mater Misericordiae University Hospital (Irish Medical Journal, 2019-02)
    Prostate cancer (CaP) is the most common non-cutaneous cancer diagnosed in Ireland with a cumulative lifetime risk of 1 in 7 men1. At autopsy, up to 60% of 80 years olds have latent CaP2 while up to 80% have benign prostatic hyperplasia (BPH) 3. The detection of CaP incidentally has fallen in the post prostate specific antigen (PSA) era from ~ 20% to ~5%4. Incidental CaP detected at transurethral resection of prostate (TURP) can be sub-classified into pT1a (<5% of prostate chips) and pT1b (>5% of prostate chips) and the management subsequently stratified.
  • "Do as we say, not as we do?" the lifestyle behaviours of hospital doctors working in Ireland: a national cross-sectional study.

    O' Keeffe, Anthony; Hayes, Blánaid; Prihodova, Lucia (BMC Public Health, 2019-02-11)
    This study was conducted to assess the lifestyle behaviours of a national sample of hospital doctors working in Ireland. We also sought to compare the prevalence of these behaviours in doctors to the general Irish population. This was a national cross-sectional study of a randomised sample of hospital doctors working in Irish publicly funded hospitals and residential institutions. The final cohort consisted of 1749 doctors (response rate of 55%). All hospital specialties were represented except radiology. The following data were collected: sociodemographic data (age, sex), work grade (consultant, trainee) average hours worked over a two-week period, specialty and lifestyle behaviours (smoking, alcohol, physical activity). Lifestyle data for the general population was provided by the Healthy Ireland 2015 study. Half of participants were men (50.5%). Just over half of the sample were consultants (54.3%), with 45.7% being trainees. 9.3% of doctors surveyed were smokers, 88.4% consumed alcohol and 24.5% were physically inactive. Trainees were more likely to smoke and be physically inactive when compared to consultants. Smoking rates amongst doctors were lower than the general population (9.3% -v- 23%). Doctors were more likely to consume alcohol than the general population (88.4% -v- 71.7%) but less likely to engage in binge drinking on a typical drinking occasion (12.8% -v- 39.5%). Doctors were more compliant than the general population with minimum exercise targets (75.5% -v- 70.5%), but less likely to engage in health enhancing physical activity (19.1% -v- 33%). While the prevalence of health behaviours amongst hospital doctors in Ireland compares favourably to the general population, their alcohol consumption and engagement in health enhancing physical activity suggest room for improvement. Continued health promotion and education on the importance of personal health behaviours is essential.
  • Obstetric Anal Sphincter Injuries: A Survey of Clinical Practice and Education among Obstetricians and Gynaecologists in Ireland

    Abdelrahman, M; Geary, M; Eogan, M (Irish Medical Journal, 2019-01)
    This paper summarises results of a survey of obstetricians in Ireland regarding their technique, management, and education on episiotomy and Obstetric Anal Sphincter Injury (OASIS). An anonymous survey was emailed to all obstetricians and gynaecologists in Ireland, including trainees between January and September 2017. The response rate was 45% (155/343) with 111 out of 144 (77%) reported clinical experience as part of their training and 92 (64%) attended an OASIS workshop or classroom teaching. The majority prescribe antibiotics and laxatives post-op, request physiotherapy review and follow-up patients in outpatient settings. We identified that most specialists and trainees practice within guidelines, but some recognise a need for further teaching and exposure to these types of injuries. These results will direct future curriculum and optimise ongoing training for trainees, unify service provision and contribute to patient safety.
  • “Semenly” Harmless Back Pain: An Unusual Presentation of a Subcutaneous Abscess

    Dunne, L; Murphy, E; Rutledge, R (Irish Medical Journal, 2019-01)
    We report, with review of the literature, the case of a patient who developed a subcutaneous abscess after intravenously injecting his own semen in an attempt to treat longstanding back pain. He had devised this “cure” independent of medical advice.
  • Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences

    Giva, S; Finnegan, J; Ihidero, P; Maguire, G; Power, B; Knerr, I; Monavari, A (Irish Medical Journal, 2019-01)
    Hyperammonaemia is a metabolic disturbance characterized by accumulation of ammonia in the blood. Entry of ammonia into the brain via the blood-brain barrier leads to hyperammonaemic encephalopathy. The causes of hyperammonaemia in paediatric patients vary. We present 3 cases of hyperammonaemia in critically ill children in whom an inborn metabolic disorder was identified and provide insights into the phenotypes, diagnostic approaches and management. In children with acute overwhelming illness and progressive neurological deterioration plasma ammonia measurement should be included in the urgent diagnostic work-up. We here raise the awareness that hyperammonaemia is a metabolic emergency requiring prompt recognition and treatment to avoid subsequent complications.
  • Unmarried Mothers Delivered in the National Maternity Hospital - 1987

    Richardson, Valerie; Winston, Nessa; Department of Social Administration and Social Work, University College, Dublin 4. (The National Maternity Hospital Holles St, 1989)
    This report is the second in a series presenting the results of the on-going work of the Social Work Research Unit in the National Maternity Hospital. The Social Work Research Unit was set up in December 1985 as a joint project between the National Maternity Hospital and the Department of Social Work in University College, Dublin.

View more