Leinsterhttp://hdl.handle.net/10147/1226592024-03-25T08:24:41Z2024-03-25T08:24:41ZBrain function in classic galactosemia, a galactosemia network (GalNet) members review.Panis, BiancaVos, E NaomiBarić, IvoBosch, Annet MBrouwers, Martijn C G JBurlina, AlbertoCassiman, DavidComan, David JCouce, María LDas, Anibh MDemirbas, DidemEmpain, AurélieGautschi, MatthiasGrafakou, OlgaGrunewald, StephanieKingma, Sandra D KKnerr, InaLeão-Teles, ElisaMöslinger, DorotheaMurphy, ElaineÕunap, KatrinPané, AdrianaPaci, SabrinaParini, RossellaRivera, Isabel AScholl-Bürgi, SabineSchwartz, Ida V DSdogou, TriantafylliaShakerdi, Loai ASkouma, AnastasiaStepien, Karolina MTreacy, Eileen PWaisbren, SusanBerry, Gerard TRubio-Gozalbo, M Estelahttp://hdl.handle.net/10147/6410742024-03-07T02:01:12Z2024-02-15T00:00:00ZBrain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A; Scholl-Bürgi, Sabine; Schwartz, Ida V D; Sdogou, Triantafyllia; Shakerdi, Loai A; Skouma, Anastasia; Stepien, Karolina M; Treacy, Eileen P; Waisbren, Susan; Berry, Gerard T; Rubio-Gozalbo, M Estela
2024-02-15T00:00:00ZR0 Resection Margin, A New Quality Measure in the Era of National Bowel Screening?Parihar, VSopena-Falco, JLeung, EBenz, ECooney, AKeohane, JSengupta, Shttp://hdl.handle.net/10147/6409522024-03-06T02:32:41Z2020-01-16T00:00:00ZR0 Resection Margin, A New Quality Measure in the Era of National Bowel Screening?
Parihar, V; Sopena-Falco, J; Leung, E; Benz, E; Cooney, A; Keohane, J; Sengupta, S
Aims To determine the completeness of polyp resection (i.e. achieving an R0 margin) and its relation with Endoscopists, histopathologist, size, location and technique of polypectomy in an NSS cohort. The definition of R0 margin is complete macroscopic resection with a negative microscopic margin at polypectomy. Method NCCS (National Colon Cancer Screening) colonoscopies are offered to bowel cancer screening patients after a positive faecal immunochemical test (FIT) test in a Joint Advisory Group (JAG) accredited Gastrointestinal Endoscopy centre. We histologically evaluated the polyp margins for complete resection, which was defined as the absence of adenomatous or hyperplastic tissue in the resected polyp margins in a cohort of faecal immunochemical test positive patients. Results A total of 186 consecutive NCCS colonoscopies out of a total of 542 performed between 2013 and 2017 were included in this study. Of the polyps excised 152(27%) had a R0 margin histologically, and 30(5%) had involvement of the margin. Surprisingly in 373(67%) of polyps pathologists were unable to assess the margin. Conclusion Achieving an R0 margin should be a key performance indicator for endoscopists performing polypectomy. At the same time more studies on polyp margins are recommended.
2020-01-16T00:00:00ZMeasles Outbreaks Continue to Cause Concern.Murphy, J F Ahttp://hdl.handle.net/10147/6408382024-02-21T02:04:17Z2019-06-17T00:00:00ZMeasles Outbreaks Continue to Cause Concern.
Murphy, J F A
At the Europaediatrics in Dublin, 13-15 June 2019 there was a symposium on Mandatory vaccination.
Many pros and cons were voiced.
The deeper and more worrying issue is why such a debate is now considered necessary. It is difficult to
grasp why a proportion of a knowledgeable and well-educated group of parents would choose not to
vaccinate their children. Scientific progress in vaccination has been hard won. Governments provide it
free of costs to parents. It is the greatest or one of the greatest advances in children’s healthcare over
the last century. In Ireland in 1950, in the pre-Measles vaccination era there were 15,000 cases in a
single year. It is distressing to see these advances in disease prevention being undermined and
underused.
2019-06-17T00:00:00ZEpileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.Donnellan, Eoin PGorman, Kathleen MShahwan, AmreAllen, Nicholas Mhttp://hdl.handle.net/10147/6407782024-02-17T02:18:41Z2024-01-18T00:00:00ZEpileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.
Donnellan, Eoin P; Gorman, Kathleen M; Shahwan, Amre; Allen, Nicholas M
KBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene (ANKRD11) responsible for KBG syndrome, wider phenotypes are emerging. While there is phenotypic variability within many features of KBG syndrome, epilepsy is not usually markedly severe and movement disorders largely undocumented. Here we describe a novel early onset phenotype of dyskinetic epileptic encephalopathy in a male, who presented during infancy with a florid hyperkinetic movement disorder and developmental regression. Initially he had epileptic spasms and tonic seizures, and EEGs revealed a modified hypsarrhythmia. The epilepsy phenotype evolved to Lennox-Gastaut syndrome with seizures resistant to multiple anti-seizure therapies and the movement disorder evolved to choreoathetosis of limbs and head with oro-lingual dyskinesias. Previous extensive neurometabolic and imaging investigations, including panel-based exome sequencing were unremarkable. Later trio exome sequencing identified a de novo pathogenic heterozygous frameshift deletion of ANKRD11 (c.6792delC; p.Ala2265Profs*72). Review of the literature did not identify any individuals with such a hyperkinetic movement disorder presentation in combination with early-onset epileptic encephalopathy. This report expands the phenotype of ANKRD11-related KBG syndrome to include epileptic dyskinetic encephalopathy.
2024-01-18T00:00:00ZAcute Carbon Monoxide Poisoning [V1.0]Moore, TomIrish Association for Emergency Medicine (IAEM)http://hdl.handle.net/10147/6407742024-02-15T02:27:20Z2023-06-01T00:00:00ZAcute Carbon Monoxide Poisoning [V1.0]
Moore, Tom; Irish Association for Emergency Medicine (IAEM)
The aim of this document is to provide guidance to clinical staff involved in the first line assessment and management of adults presenting to the ED with suspected or diagnosed acute CO poisoning.
2023-06-01T00:00:00ZBurkitt Lymphoma/Leukaemia in Children & Young Adolescents.O'Rourke, EMalone, AO'Marcaigh, AStorey, LBetts, DMcDermott, MSmith, O Phttp://hdl.handle.net/10147/6407712024-02-15T02:19:15Z2020-01-16T00:00:00ZBurkitt Lymphoma/Leukaemia in Children & Young Adolescents.
O'Rourke, E; Malone, A; O'Marcaigh, A; Storey, L; Betts, D; McDermott, M; Smith, O P
Aims Burkitt Lymphoma (BL) accounts for approximately 40% of childhood non-Hodgkin Lymphoma (NHL) in the developed world. Survival rates have improved dramatically in recent years, a success attributed to better use of poly-chemotherapy and targeted immunotherapy. Nevertheless, relapse is unpredictable and carries a dismal prognosis. We report on event-free survival (EFS) and overall survival (OS) rates in the Republic of Ireland (ROI) during 2000-2017, and evaluate novel predictors of outcome. Methods Data was collected by retrospective review of patient medical records. Results Thirty-three patients were identified (twenty-five [76%] males, eight [24%] females), fourteen [42%] having stage III disease at presentation. Six [18%] had stage IV disease. Five [15%] had refractory disease; one salvaged with allogeneic stem cell transplantation. Of the four [12%] who died; two [50%] had weights >99th centile, one [25%] >90th centile. One died during induction from refractory lactic acidosis, one from early relapse. Discussion EFS and OS was 85% and 89% respectively; in keeping with the best international standards. Obesity appears to be a poor predictor of outcome in our cohort.
2020-01-16T00:00:00ZPeriorbital and Orbital Cellulitis (Adults and Paediatrics) [v2.0]Yong, Ken AuHarris, Karenhttp://hdl.handle.net/10147/6407702024-02-15T02:27:14Z2022-04-01T00:00:00ZPeriorbital and Orbital Cellulitis (Adults and Paediatrics) [v2.0]
Yong, Ken Au; Harris, Karen
The aim of this document is to provide guidance to clinical staff involved in the first line assessment and management of adults and children presenting with features suggestive of periorbital or orbital cellulitis.
2022-04-01T00:00:00ZPredicting Spontaneous Preterm Birth.Kennedy, CO’Dwyer, Vhttp://hdl.handle.net/10147/6407652024-02-14T02:15:08Z2019-08-01T00:00:00ZPredicting Spontaneous Preterm Birth.
Kennedy, C; O’Dwyer, V
Preterm birth is defined as delivery prior to 37 completed weeks gestation. It is a leading cause of perinatal morbidity and mortality globally 1 with the incidence in Ireland approximately 7%. While advancements in perinatal care have improved survival rates for babies born early, significant complications can arise from pre-term birth including the possibility of neurodevelopmental delay, gastrointestinal and respiratory problems. Pre-term delivery can also have significant psychological and financial implications for families affected.2
Seventy percent of pre-term births occur spontaneously3 while in some cases early delivery may be medically indicated in the fetal or maternal interest.
2019-08-01T00:00:00ZDriving and Psychotropic Medications: What Do Psychiatrists and Service Users Really Know?Vartukapteine, SO'Connell, Hhttp://hdl.handle.net/10147/6407642024-02-14T02:15:00Z2020-01-16T00:00:00ZDriving and Psychotropic Medications: What Do Psychiatrists and Service Users Really Know?
Vartukapteine, S; O'Connell, H
Aims We ascertained the level of psychotropic medication use among drivers from a sample population and examined whether psychiatrists and mental health service users are sufficiently informed about the effects of medications on driving ability and about drug-driving legislation and guidelines in Ireland. Methods This cross-sectional survey included a convenience sample of 50 service users aged 18 and over who presented to the acute psychiatric unit in Portlaoise, Laois-Offaly Mental Health Services (LOMHS) for urgent psychiatric assessment, along with a survey of 37 doctors working with LOMHS. Results Almost half of surveyed service users (46%) reported that they currently drive, with the majority of these (78%) driving most days. Sixty-one percent (61%) of drivers reported taking psychotropic medication, with 64% of these taking more than one medication. Of 17 doctors who returned questionnaires, 8 (47%) reported that driving and medication use is a common concern in their practice, while only 1 (6%) had received training in relation to assessing medical fitness to drive. Overall, 94% (16) of clinicians and 54% of service users (rising to 71% for service users who drive and take medication) expressed a need for more information about this topic. Conclusion In this sample, the majority of mental health service users who drive do so while taking prescribed medications and they are unclear on the implications. Furthermore, there are significant deficits in training for psychiatrists in the area of assessing medical fitness to drive. Therefore, considering the potential serious risks involved, there is a clear need for more information and training about this topic for both clinicians and service users alike.
2020-01-16T00:00:00ZThe Modified Sarnat Score in the Assessment of Neonatal Encephalopathy: A Quality Improvement Initiative.Power, B DMcGinley, JSweetman, DMurphy, J F Ahttp://hdl.handle.net/10147/6406562024-02-14T02:10:26Z2019-08-01T00:00:00ZThe Modified Sarnat Score in the Assessment of Neonatal Encephalopathy: A Quality Improvement Initiative.
Power, B D; McGinley, J; Sweetman, D; Murphy, J F A
The Sarnat score is an essential component in the assessment and evaluation of the infant with neonatal encephalopathy. This clinical tool provides physicians with a standardised approach to systematic neurological examination and documentation of pertinent neurological findings. The value of the Sarnat Score has increased with the advent of therapeutic hypothermia and the need to evaluate the neurological response to treatment.
2019-08-01T00:00:00Z