• Sensor Augmented Pump Therapy Use in Type 1 Diabetes Mellitus

      Carolan, E; Murphy, NP (Irish Medical Journal, 2016-11)
      Tight metabolic control in Type 1 Diabetes Mellitus (T1DM) reduces incidence and delays progression of micro-vascular complications. Severe hypoglycaemia remains a significant barrier to achieving optimal diabetes control. Continuous subcutaneous insulin infusion (CSII) systems refine insulin delivery with programmable basal rates and mealtime bolusing
    • MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) – a Diagnosis Not to be Missed

      Quinn, NM; Stone, G; Brett, F; Caro-Dominguez, P; Neylon, O; Lynch, B (Irish Medical Journal, 2016-09)
      MELAS is a rare mitochondrial disorder. We report two cases in Irish males where the characteristics were evident, but the diagnosis not made for a considerable period of time. In one of the cases the symptoms were presumed secondary to prematurity. In the other the symptoms were presumed secondary to epilepsy and he had three respiratory arrests secondary to benzodiazepine administration. This report wishes to highlight MELAS as a differential diagnosis in paediatric patients who present with stroke.
    • The Prolonged Neonatal Admission: Implications for our National Children's Hospital

      McGlacken-Byrne, SM; Geraghty, L; Murphy, JFA (Irish Medical Journal, 2016-06)
      A significant number of neonates are admitted to tertiary paediatric units for prolonged stays annually, despite limited availability of neonatal beds. As the three Dublin paediatric hospitals merge, this pressure will be transferred to our new National Children’s Hospital. We analysed epidemiological trends in prolonged neonatal admissions to the 14-bed neonatal unit in The Children’s University Hospital, Temple Street, Dublin. This was with a view to extrapolating this data toward the development of a neonatal unit in the National Children’s Hospital that could accommodate for this complex, important, and resource-heavy patient population. Four hundred and thirty-six babies between 0 and 28 days of life were admitted to our neonatal unit for prolonged stays (three cohorts: >1 month and <3months, >3months and <6months, and >6months), between 2000-2014. Mean number of prolonged admissions >1 month was 29.1 per year (range 18-43). Median length of stay (LOS) was 42 days (range 29-727). 363 babies were admitted for >1month but <3months with a median LOS 38 days (range 28-90); 54 babies were admitted for >3months but <6months with a median LOS 111 days (range 91-179); 19 babies were admitted for >6months with a median LOS 331 (range 196-727). There has been a statistically significant upward trend in the number of prolonged admissions over last fifteen years (Spearman’s rho p=0.01, correlation coefficient 0.848). There has been no significant increase in the median length of stay over time. It can be extrapolated, that in the new children’s hospital must be capable of dealing with at least 80 neonatal long-stay patients annually.
    • Type 1 Tyrosinaemia

      Mannion, MA; Smith, A; Mayne, P; Monavari, AA (Irish Medical Journal, 2016-06)
      Tyrosinaemia type 1 (TYR1, OMIM# 276700) is a rare autosomal recessive disease that results from an enzyme defect that leads to a deficiency in fumarylacetoacetase (FAH)1. We present 3 cases of TYR1 in the Irish population over a 9 year period, the only cases known to have been diagnosed in Ireland since 1989. The common presenting symptom was hypoglycaemia and the diagnosis was made by the identification of the pathognomonic biomarker succinylacetone on urine organic acid analysis. We discuss the clinical presentation, biochemical and genetic results including one novel mutation. We also highlight the importance of early initiation of Nitisinone (NTBC), which reduces the complications of TYR1 and the incidence of liver transplantation in this population2.
    • Transient Hyperphosphatasaemia of Infancy: An Often Unrecognised and Thus Over-Investigated Condition

      Rasheed, E; Mayne, P (Irish Medical Journal, 2016-04)
      Transient hyperphosphatasaemia of infancy (THI) is a benign condition characterised by a rapid rise and fall in plasma alkaline phosphatase (ALP) activity without biochemical or clinical evidence of underlying bone or liver disease. It is most often identified incidentally during routine blood testing; hence it is important to recognise this phenomenon in order to avoid unnecessary investigations and inappropriate referrals. This review has provided some useful insight into the characteristics associated with the THI and the routine clinical practice when isolated elevation of plasma ALP is found in patients at two sites in Republic of Ireland. Over a period of two years, 107,468 requests for plasma ALP analysis were received, of which a total of 250 patients were identified with a plasma ALP activity above 1000IU/L. The biochemical diagnosis of THI was considered in 62 patients, 15 (25%) of these were inappropriately investigated and 5 (13%) were unnecessarily referred to tertiary care by their general practitioners. We recommend that if an isolated high plasma ALP activity is detected during routine blood testing without any indication of bone or liver disease, it is important to consider THI in the differential diagnosis and to repeat the plasma ALP in 7-10 days. This should be further confirmed by the normalisation of the plasma ALP activity in 2-3 months or by ALP isoenzyme analysis where deemed appropriate by the laboratory.
    • Bevacizumab compared with Diode Laser in stage 3 posterior retinopathy of prematurity: a 5 year follow-up

      O’Keeffe, N; Murphy, J; O’Keeffe, M; Lanigan, B (Irish Medical Journal, 2016-02)
      We conducted a prospective randomized study to compare outcomes of intravitreal Bevacizumab versus diode laser in thirty eyes of fifteen premature babies with zone 1 or posterior zone 2 retinopathy of prematurity (ROP). We recorded complications, regression/reactivation of ROP, visual outcome, refractive error and systemic complications. The Bevacizumab-treated eyes showed rapid regression of the ROP with resolution of plus disease and flattening of the ridge at 48 hours post injection. In 3 Bevacizumab-treated eyes, reactivation occurred and were treated with laser (3 eyes) or a further Bevacizumab injection (1 eye). Of the diode laser treated eyes, one showed progression and was treated with Bevacizumab. At 5-year follow-up, good outcomes were observed in both treatment groups. However, less myopia was found in the Bevacizumab compared with the diode laser treated eyes.
    • Resolution of a Protracted Serogroup B Meningococcal Outbreak with Whole-Genome Sequencing Shows Interspecies Genetic Transfer.

      Mulhall, Robert M; Brehony, Carina; O'Connor, Lois; Meyler, Kenneth; Jolley, Keith A; Bray, James; Bennett, Desiree; Maiden, Martin C J; Cunney, Robert (2016-01-01)
      A carriage study was undertaken (n 112) to ascertain the prevalence of Neisseria spp. following the eighth case of invasive meningococcal disease in young children (5 to 46 months) and members of a large extended indigenous ethnic minority Traveller family (n 123), typically associated with high-occupancy living conditions. Nested multilocus sequence typing (MLST) was employed for case specimen extracts. Isolates were genome sequenced and then were assembled de novo and deposited into the Bacterial Isolate Genome Sequencing Database (BIGSdb). This facilitated an expanded MLST approach utilizing large numbers of loci for isolate characterization and discrimination. A rare sequence type, ST-6697, predominated in disease specimens and isolates that were carried (n 8/14), persisting for at least 44 months, likely driven by the high population density of houses (n 67/112) and trailers (n 45/112). Carriage for Neisseria meningitidis (P < 0.05) and Neisseria lactamica (P < 0.002) (2-sided Fisher’s exact test) was more likely in the smaller, more densely populated trailers. Meningococcal carriage was highest in 24- to 39-year-olds (45%, n 9/20). Evidence of horizontal gene transfer (HGT) was observed in four individuals cocolonized by Neisseria lactamica and Neisseria meningitidis. One HGT event resulted in the acquisition of 26 consecutive N. lactamica alleles. This study demonstrates how housing density can drive meningococcal transmission and carriage, which likely facilitated the persistence of ST-6697 and prolonged the outbreak. Whole-genome MLST effectively distinguished between highly similar outbreak strain isolates, including those isolated from person-toperson transmission, and also highlighted how a few HGT events can distort the true phylogenetic relationship between highly similar clonal isolates.
    • A review of craniofacial referrals to the NPCC and introduction of a new referral pathway

      Curran, TA; McGillivary, A; Murray, D (Irish Medical Journal, 2016-01)
      The National Paediatric Craniofacial Centre (NPCC) at Temple Street Children' s University Hospital provides specialist cares for over 660 children annually with syndromic and non-syndromic craniosynostosis, craniofacial tumours, craniofacial trauma, facial clefts, craniofacial growth disorders and facial asymmetry, torticollis, positional plagiocephaly and facial nerve disorders. The centre was established in the early 90's by Professor Michael Earley, Consultant Plastic Surgeon and Mr David Alcutt, Consultant Neurosurgeon. The appointment of Mr Dylan Murray, Consultant Craniofacial and Plastic Surgeon and Mr John Caird, Consultant Neurosurgeon in 2008 brought with it the expertise to manage the full remit of craniofacial disorders in the unit. Before this time complex craniofacial conditions may have required referral to craniofacial centres in the UK for treatment. The service further evolved in 2013 with the appointment of a clinical nurse specialist. Craniofacial MDT clinics are run in Temple Street Children's University Hospital (TSCUH) and at the satellite centres based in St James Hospital and Our Lady's Children's Hospital, Crumlin. A quarterly facial palsy MDT clinic is base at Temple Street Children's University Hospital (TSCUH).
    • Malignant Phenylketonuria (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency

      Ventzke, A; Hoffmann, J; Crushell, E; Monavari, A; Mayne, PD; Knerr, I (Irish Medical Journal, 2015-12)
      DHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the cofactor for the enzyme phenylalanine (Phe)hydroxylase (PAH), and for tryptophan and tyrosine hydroxylases, both of which are essential for serotonin and dopamine biosynthesis. We present four patients in two families who are being treated at the National Centre for Inherited Metabolic Disorders (NCIMD). All are members of the Irish Traveller population. We have identified a homozygous mutation, c.353C>T, in the DHPR (QDPR) gene which, to the best of our knowledge, has not been previously described. The mainstay of treatment is a life-long Phe-restricted diet together with supplementation of L-dopa and 5-hydroxy tryptophan (5-HT) and folinic acid. In Ireland, there is neurological comorbidity in our adult DHPR patients, although the overall outcome is satisfactory and one affected female has three healthy children.
    • Congenital arteriovenous malformation of the forearm and hand

      Collins, A; Cronin, K (Irish Medical Journal, 2015-09)
      We report the case of an asymptomatic arteriovenous malformation (AVM), extending from the forearm into the palm, in an 11-yearold boy. A debulking procedure was performed meticulously dissecting the lesion from the involved structures. The post-operative course was uncomplicated and no evidence of recurrence was noted at eighteen months follow-up. Extensive AVMs involving structures vital for hand function may be asymptomatic. Clinical follow-up is paramount, due to the inherent risk of recurrence.
    • Neonatal discharge planning: could unscheduled reviews be reduced in the first six weeks of life?

      Forman, E; Cathin, N; Sills, A; Cronin, S; Foran, A; McCallion, N (Irish Medical Journal, 2015-07)
      The postnatal period offers an opportunity to provide information and education to new mothers. We analysed factors associated with unscheduled presentations of newborns to local primary care, maternity and paediatric services over a 3 week period to assess whether these could be targeted with discharge planning educational interventions. Data was collected prospectively from electronic databases and manually from patient records in the maternity hospital. Two hundred and seventy six patients under 6 weeks of age presented to the three services. Half of these visits were unscheduled 137 (49%). 40(29%) of those that were unscheduled were felt to represent benign neonatal variants whilst 28 (20%) presented with feeding problems. Eighty one (59.3%) patients were discharged home, and this was unaffected by referrer patterns; GPs 19 (56%), Nurses 13 (57%) or parents77 (67%). At least 40 (29%) of reviews were felt to be inappropriate and could have been prevented. There is room for cost saving and quality improvement of the service through education.
    • Incorporating teaching in global child health into Irish medical school curriculum

      Geoghegan, S; Nicholson, AJ; Molloy, EJ (Irish Medical Journal, 2015-07)
      The medical profession is confronted by inequality in access to health care worldwide. There is an ethical responsibility that this be addressed during the training of new doctors. We examined the baseline interest in international child health among medical students in an Irish University and we looked at the impact of a clinical approach to global child health education on their interest and knowledge. We developed a global child health module with a clinical focus and incorporated it into the paediatric curriculum. Two questionnaires were developed to determine student’s perceptions of the relevance of international child health and their knowledge of core topics in international child health pre and post taking the module. 100/130 questionnaires were completed.
    • Accidental Ingestion of Magnetic Spheres in Children

      Zgraj, O; Awadalla, S (Irish Medical Journal, 2015-05)
      Magnetic foreign body ingestion can have a very serious sequale if multiple or combined with another metal object inside the abdomen. We report 2 cases of ingestion of rare-earth magnets with a very different consequences. This adds to the world’s literature on this topic.
    • Antibiotic prophylaxis in children with vesicoureteric reflux: has RIVUR answered all our questions?

      Teoh, CW; Awan, A (Irish Medical Journal, 2015-04)
      The interest in urinary tract infections (UTI) and vesicoureteral reflux (VUR), which is the retrograde flow of urine from the bladder into the ureter, started gaining pace in the late 1950s after the introduction of voiding cystourethrography. 1 VUR is present in one third of children presenting with febrile urinary tract infections (UTI) and is associated with renal scarring. 1 In an effort to reduce renal scarring as a result of VUR, various surgical repairs of the vesicoureteral junction, and later endoscopic injection techniques were introduced. 2 With the emerging understanding of the strong association between UTI and VUR, antibiotic prophylaxis gained popularity after an observational study showed that VUR improved with long-term, low-dose antibiotic treatment. 3 Smellie et al found that prophylaxis significantly reduced the number of UTI recurrences compared to before prophylaxis. 4 The use of antibiotic prophylaxis became standard practice after two large prospective randomised trials comparing surgical intervention and antibiotic prophylaxis found no difference between the two interventions in relation to UTI recurrence and new renal damage. 5-7 Endoscopic and surgical treatments were reserved for severe reflux.
    • Paediatric tonsillotomy: an Irish perspective on potential

      Fitzgerald, C; Oosthuizen, JC; Colreavy, M (Irish Medical Journal, 2015-04)
      Tonsillotomy is the preferred treatment of some otolaryngologists for younger patients (under 3 years) with low body weight (under 15kgs) and a history of obstructive sleep apnoea. The use of the technique in the same patient cohort for recurrent tonsillitis remains controversial. The aim of this study was to evaluate the indications and outcomes of paediatric patients undergoing tonsillotomy (with or without adenoidectomy) at a paediatric ENT centre in Ireland. Patients were identified from a prospectively maintained database and chart review was completed. A total of 23 patients were identified who underwent tonsillotomy. The commonest indication was Obstructive Sleep Apnoea (OSA) in 15 patients (65%). Outcomes following tonsillotomy compared favourably with traditional tonsillectomy. No intra-operative or post-operative complications were recorded (0%). No patients required readmission or later tonsillectomy (0%). At follow-up 19/23 patients with OSA (82.6%) had complete symptom resolution. Tonsillotomy appears to represent a safe, effective treatment option in the paediatric population, however, its role in recurrent tonsillitis remains controversial.
    • Hospital to home paediatric enteral nutrition--parents need support.

      Shortall, C; Aherne, M; Boland, S; Sheane, R; Ward, F; Hensey, O (Irish Medical Journal, 2015-02)
      This study assessed the provision of education and support to parents of children on home enteral nutrition (HEN), current dietetic support available and perceived challenges facing parents and carers. From the 39 responses (13%), 29 (83%, n = 35) parents suggested services for HEN need improvement. 29 (74%, n = 39) parents wanted more structured follow up and 22 (56%) would like one person to co-ordinate HEN, education and discharge. 7 parents (18%) reported a need for further education of health care professionals (HCP). Hospital dietitians were the most common HCPs reported to provide support to patients following discharge. Specialist paediatric HEN dietetic services working in a dedicated HEN team, who would provide accurate training and education and liaise with both parents and community care services post discharge should be in place. This would facilitate transfer to community care, reduce hospital re-admissions, outpatient department attendances and costs.
    • New hazards in paediatric poisoning presentations.

      Moore, C; Crowley, E; Doyle, J; Okafor, I; McNamara, R; Deiratany, S; Nicholson, A J (Irish Medical Journal, 2015-02)
      Accidental ingestion is an important preventable cause of childhood morbidity. All accidental ingestion presentations (n = 478) to a tertiary paediatric ED from January 2010 to December 2011 were analysed. These results were compared with a similar study in the same institution ten years previously in 2001 and showed that while accidental ingestions constituted a higher proportion of presentations (0.5% in this study v 0.45% in 2001), fewer had investigations performed (21% v 35%) and fewer were admitted (7% v 20%). Accidental ingestions account for 0.5% of presentations and are an important focus of home safety information for parents and guardians. Paracetamol (n = 67, 14%) and liquid detergent capsules (n = 44, 9.2%) were the two most common substances implicated in these presentations, and have the potential to cause severe morbidity and mortality.
    • Pedestrian deaths in children--potential for prevention.

      Hamilton, K; Macken, W; McGarvey, C; Matthews, T G; Nicholson, A J (Irish Medical Journal, 2015-01)
      The National Paediatric Mortality Database was reviewed for the six year period 1st January 2006 to 31st December 2011 and all pedestrian deaths extracted, after review of available data the deaths were categorized as either traffic or non-traffic related. There were 45 child pedestrian fatalities in the period examined. Traffic related deaths accounted for 26 (58%) vs. 19 (42%) non-traffic related. Analysis of the deaths showed there was a male preponderance 28 (62%), weekend trend 22 (49%) with an evening 16 (35%) and summer peak 20 (44%). The highest proportion of deaths occurred in the 1-4 year age group 24 (53%), with 13 (28%) due to low speed vehicle rollovers, mainly occurring in residential driveways 8 (61%). Child pedestrian fatalities are highly preventable through the modification of risk factors including behavioural, social and environmental. Preventative action needs to be addressed, particularly in relation to non-traffic related deaths i.e, low speed vehicle rollovers.
    • A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

      Casey, Jillian P; Goggin, Patricia; McDaid, Jennifer; White, Martin; Ennis, Sean; Betts, David R; Lucas, Jane S; Elnazir, Basil; Lynch, Sally Ann (2015)
      Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. We recently reported the identification of three disease-causing PCD genes in the Irish Traveller population; RSPH4A, DYX1C1 and CCNO. We have since assessed an additional Irish Traveller family with a complex phenotype involving PCD who did not have any of the previously identified PCD mutations.