Recent Submissions

  • A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020).

    Rice, Jane; McNulty, Jenny; O'Shea, Meabh; Gudex, Teresa; Knerr, Ina (2023-07-29)
  • Yield of brain MRI in children with autism spectrum disorder.

    Byrne, D; Fisher, A; Baker, L; Twomey, E L; Gorman, K M (2023-05-25)
  • Slow-motion smartphone video improves interobserver reliability of gait assessment in ambulatory cerebral palsy.

    Brodke, Dane J; Makaroff, Katherine; Kelly, Enda G; Silva, Mauricio; Thompson, Rachel M (2023-06-12)
  • Developmental dysplasia of the hip is common in patients undergoing total hip arthroplasty under 50 years of age.

    Muddaluru, Varun; Boughton, Oliver; Donnelly, Thomas; O'Byrne, John; Cashman, James; Green, Connor (2023-08-09)
  • Self-Harm in Children and Adolescents Who Presented at Emergency Units During the COVID-19 Pandemic: An International Retrospective Cohort Study.

    Wong, Ben Hoi-Ching; Cross, Samantha; Zavaleta-Ramírez, Patricia; Bauda, Ines; Hoffman, Pamela; Ibeziako, Patricia; Nussbaum, Laura; Berger, Gregor E; Hassanian-Moghaddam, Hossein; Kapornai, Krisztina; et al. (2023-02-16)
  • The natural history of cystic fibrosis liver disease a prospective cohort study.

    Rowland, Marion; Drummond, Jennifer; Connolly, Lucy; Daly, Erika; McCormick, P Aiden; Bourke, Billy (2023-07-24)
  • Everolimus precision therapy for the GATOR1-related epilepsies: A case series.

    Moloney, Patrick B; Kearney, Hugh; Benson, Katherine A; Costello, Daniel J; Cavalleri, Gianpiero L; Gorman, Kathleen M; Lynch, Bryan J; Delanty, Norman (2023-07-09)
  • Voriconazole-induced periostitis post lung transplantation.

    Hynes, John P; Murray, Órla Meadhbh; Murray, Michelle; Kavanagh, Eoin (2022-03-11)
    Voriconazole is a broad-spectrum triazole antifungal used to treat invasive fungal infections. It is commonly used prophylactically in immunocompromized patient cohorts, including transplant recipients. Diffuse periostitis is a very rare complication of chronic voriconazole use. It is associated with diffuse bone pain, elevated serum alkaline phosphatase and fluorine levels. Characteristic imaging findings include periosteal thickening with a dense, nodular, irregular and often bilateral pattern. We describe the case of a 71-year-old female who presented with multifocal bone pain six years following double lung transplantation. Her post transplantation course had been complicated by a life threatening episode of sepsis secondary to Scedosporium apiospermum, a rare invasive fungal infection following which lifelong prophylaxis with oral Voriconazole was commenced. We discuss the characteristic clinical and imaging manifestations of this rare condition.
  • Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

    Vogel, Georg F; Mozer-Glassberg, Yael; Landau, Yuval E; Schlieben, Lea D; Prokisch, Holger; Feichtinger, René G; Mayr, Johannes A; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes; et al. (2022-10-29)
  • Hip Fracture and the Weekend Effect in an Irish Trauma Hospital.

    Downey, C; Flannery, S; Izydorczyk, A; Quinlan, J F (2019-06-17)
    Aims We examined the relationship between the 1-year mortality (OYM) rate and (i) those admitted at the weekend, (ii) those who underwent surgery at the weekend and (iii) those admitted during the NCHD changeover months (January & July) for the management of hip fracture in Tallaght University Hospital (TUH). Methods Admissions to TUH (2013 - 2016) with hip fracture (> 60 years old) were retrospectively examined. Data from the Irish Deaths and Events Registry was analysed to identify death events at 1 year. Logistic regression analysis was performed with respect to OYM with the three variables above. Results 646 hip fracture patients were admitted (2013 – 2016). 178 (27.5%) were weekend admissions, 183 (28.4%) underwent weekend surgery and 93 patients (14.4%) were admitted during NCHD changeover months. There was no significant relationship between OYM and (i) weekend admission, (ii) weekend surgery or (iii) changeover admission in TUH. Conclusion This study offers the first examination of the weekend effect on fragility hip fractures and mortality in Irish patients and reports no significant weekend effect regarding 1-year mortality in this hip fracture cohort.
  • Title: Understanding a Low Vitamin D State in the Context of COVID-19.

    McCarroll, Kevin; Healy, Martin; O'Shea, Paula M; Kenny, Rose Anne; Faul, John L; Walsh, James Bernard; McCartney, Daniel; Laird, Eamon; Byrne, Declan (2022-03-04)
    While a low vitamin D state has been associated with an increased risk of infection by SARS-CoV-2 in addition to an increased severity of COVID-19 disease, a causal role is not yet established. Here, we review the evidence relating to i) vitamin D and its role in SARS-CoV-2 infection and COVID-19 disease ii) the vitamin D status in the Irish adult population iii) the use of supplemental vitamin D to treat a deficient status and iv) the application of the Bradford-Hill causation criteria. We conclude that reverse causality probably makes a minimal contribution to the presence of low vitamin D states in the setting of COVID-19. Applying the Bradford-Hill criteria, however, the collective literature supports a causal association between low vitamin D status, SARS-CoV-2 infection, and severe COVID-19 (respiratory failure, requirement for ventilation and mortality). A biologically plausible rationale exists for these findings, given vitamin D's role in immune regulation. The thresholds which define low, deficient, and replete vitamin D states vary according to the disease studied, underscoring the complexities for determining the goals for supplementation. All are currently unknown in the setting of COVID-19. The design of vitamin D randomised controlled trials is notoriously problematic and these trials commonly fail for a number of behavioural and methodological reasons. In Ireland, as in most other countries, low vitamin D status is common in older adults, adults in institutions, and with obesity, dark skin, low UVB exposure, diabetes and low socio-economic status. Physiological vitamin D levels for optimal immune function are considerably higher than those that can be achieved from food and sunlight exposure alone in Ireland. A window exists in which a significant number of adults could benefit from vitamin D supplementation, not least because of recent data demonstrating an association between vitamin D status and COVID-19. During the COVID pandemic, we believe that supplementation with 20-25ug (800-1000 IU)/day or more may be required for adults with apparently normal immune systems to improve immunity against SARS-CoV-2. We expect that higher monitored doses of 37.5-50 ug (1,500-2,000)/day may be needed for vulnerable groups (e.g., those with obesity, darker skin, diabetes mellitus and older adults). Such doses are within the safe daily intakes cited by international advisory agencies.
  • Adolescents Presenting with Mental Health Crises.

    Gadancheva, V; Barry, H; McNicholas, F (2019-12-16)
    Aims The aim of the study is to examine emergency mental health (MH) presentations and assessments of adolescents (16-18) presenting to a Dublin adult emergency department (ED). Methods Clinical data was collected on all patients over a 12 month period. Results Seventy seven adolescents presented, the majority out of hours (n=58, 75%) and with either self-harm (n=34, 44%) or suicidal ideation (n=28, 36%), where females significantly outnumbered males (89% vs 66%; p=.028). Other presentations included low mood, anxiety and behavioural problems, and following assessment from an adult mental health service team member, 55% (n=39) were given an Axis I psychiatric diagnosis. Almost all adolescents were discharged following assessment (n=68, 96%), the majority being referred on to Child and Adolescent Mental Health Service (CAMHS) (55, 78%). Conclusion Crisis presentations to EDs often occur in adolescents with co-existing psychiatric disorders, and require skilled and therapeutic assessment. Knowledge of appropriate services for onward referral is essential, and highlight the importance of a close collaborative between adult EDs and CAMHS.
  • Cyanotic Congenital Heart Disease Modes of Presentation and Prenatal Detection.

    Lynch, Á; Ng, L; Lawlor, P; Lavelle, M; Gardner, F; Breatnach, C; McMahon, C J; Franklin, O (2019-12-16)
    Prenatal detection of structural congenital heart disease (CHD) optimises cardiovascular stability pre-operatively and post-operative outcomes. We compared prenatal detection rates of critical CHD in units offering universal fetal anomaly scans with those offering imaging to selected women. One hundred and thirteen infants met inclusion criteria. The overall pre-natal detection rate for critical CHD was 57% of liveborn infants. It was 71% (57/80) in hospitals who offered a universal anomaly scan and 29% (9/31) in centres offering a limited service. Postnatal diagnosis was associated with PICU admission (p=0.016) and preoperative mechanical ventilation (p=0.001). One-year mortality was 10 fold higher in the postnatally diagnosed group 15% vs 1.55% (p=0.0066). There is a significant disparity between centres offering universal anomaly versus selective screening. Prenatal detection confers advantage in terms of pre-operative stability and one year survival. Failure to deliver an equitable service exposes infants with CHD to avoidable risk. Abreviations CHD, congenital heart disease; PICU, paediatric intensive care unit; NWIHP, National Women and Infants Health Programme; NCHC, CHIC, National Children’s Heart Centre at Children’s Health Ireland at Crumlin; TAPVD, total anomalous pulmonary venous drainage, HLHD, Hypoplastic left heart disease, HRHD, Hypoplastic right heart disease, LVOTO, left ventricular outflow tract obstruction.
  • Prognostic Importance of Pathological Fractures in Osteosarcomas.

    Sheridan, G A; Mellon, L; Thompson, E M; O'Kane, G M; O'Toole, G C (2020-12-16)
    Aims To investigate whether pathological fractures impact on osteosarcoma patient prognosis in Ireland. Methods This was a retrospective study over 22 years in a National Orthopaedic Oncology Centre. There were 117 nonfracture cases and 15 fracture cases. Outcome measures included 5 and 10 year event-free (EFS) and overall survival (OS). Kaplan-Meier curves assessed length of survival and time to death. Results Pathological fracture has no significant effect on 10 year EFS or 10 year OS. 3 factors strongly associate with 10 year OS rates: American Joint Committee on Cancer (AJCC) classification (p<0.001), Metastases site (p<0.001) and Distant recurrence (p<0.001). Fractures had poorer post-chemotherapeutic necrosis rates (p=0.005). Conclusion Pathological fractures have no significant effect on survival rates or length of survival in an Irish population. The effect of pathological fractures on necrosis rates must be explored in future research.
  • Should MRI Be the Imaging Modality of Choice in Suspected Appendicitis During Pregnancy?

    Donlon, N E; Kelly, M E; Davern, M; Sheppard, A; Nugent, T; Durand, M; Mehigan, B J; Larkin, J O; McCormick, P H (2019-12-16)
    Aim The aim of this review was to evaluate the efficacy of magnetic resonance imaging (MRI) in determining appendicitis during pregnancy. Methods We retrospectively reviewed the clinical course for all pregnant patients with suspected appendicitis from 2013-2018. We evaluated the efficacy of MRI and Alvarado scoring and its impact on management. Results Twenty-nine pregnant patients with suspected appendicitis had an MRI. The majority (90%, n=26/29) had normal diagnostics with two patients (10.3%) having findings consistent with acute appendicitis. Two other patients proceeded to laparoscopy, one with an inconclusive MRI, and one patient with clinical appendicitis. We found no accurate correlation between pregnancy and Alvarado scoring. Conclusion MRI is a safe adjunct in accurately diagnosing appendicitis in pregnancy. Its routine use could help reduce rates of negative appendectomies and the potential risk to maternal and fetal health.
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.

    Mesbah, Z; Sing Ho, K; Fitzsimons, P; Monavari, A A; Mayne, P D; Crushell, E (2019-12-16)
    Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population data was used to calculate epidemiological figures. Results From 1998 to 2016, 17 children (<18 years) were diagnosed with MCADD including two patients whose initial presentation was fatal. The mean age at initial presentation was 1.48 years (Range: 0.005 to 2.86). The incidence was 1:71650 with mortality at 15.38%. No child subsequently died post diagnosis. The common c.985A>G mutation accounted for 88% of alleles. Conclusion The incidence of MCADD in Ireland is lower than global estimates. The potential for under-ascertainment and late diagnosis of cases exists in Ireland and is of concern for a treatable condition with a significant mortality when undiagnosed. The authors welcome the introduction of MCADD to the National Newborn Bloodspot Screening Program.
  • The threads of history: why record your pandemic experiences for the RCPI archive?

    Wheelock, Harriet; Dickson, Melissa; Barrett, Elizabeth (2020-05-22)
  • Leptomeningeal Relapse of Embryonal Rhabdomyosarcoma after 15 years.

    Chew, S; Gleeson, J P; McCarthy, A; Watson, G A; O'Dwyer, R; Nicholson, S; Capra, M; Owens, C; McDermott, M; Daly, P; et al. (2020-12-16)
    Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour of childhood, albeit accounting for only 3-4% of all childhood cancers. Embryonal RMS accounts for around 60% of all RMS cases, usually occurs in children less than 5 years of age and commonly originates from the head, neck or urogenital system. Alveolar RMS is responsible for about 21% of cases and tends to affect the trunk and limbs. Other less common subtypes include botyroid and spindle cell RMS.1 The introduction of a combined modality treatment approach has resulted in improved patient outcomes, with over 70% of patients with localised RMS cured of their disease. Disease relapse tends to happen early and is associated with a poor prognosis, but late relapse is poorly studied and understood. We present the case of a very late relapse of RMS in an unusual location.
  • Risk Factors for Respiratory Syncytial Virus Bronchiolitis Admissions.

    Meenaghan, S; Breatnach, C; Smith, H (2020-01-16)
    Aim Determine the seasonal incidence of hospital Respiratory Syncytial Virus (RSV) bronchiolitis and explore the variables associated with admission to ward versus the Paediatric Intensive Care Unit (PICU). Method Retrospective case-control study. Children, aged ≤2 years, between November and March, over a 3 year period with a positive RSV nasopharyngeal aspirate test. Results A total of 557 children were included; 19% (n=106) required PICU admission. Children admitted to the PICU were younger in age, median (IQR) 6.93 (3.96, 11.89) weeks compared to children who remained on the wards 11.00 (5.86, 24.14) weeks. Being underweight at the point of admission (adjusted odds ratio 3.15, 95% 1.46, 6.70, p=0.003) was associated with a PICU admission. Conclusion Number of RSV bronchiolitis hospitalisations are increasing each year. Age, weight and the use of HFNC were independent predictors for PICU admission.

View more