Paediatrics and Child Health - Journal Articles
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Item Roifman syndrome: a description of further immunological and radiological features(BMJ Publishing Group, 2024-01-22) Clifford, Danielle; Moloney, Fiachra; Leahy, Timothy Ronan; Murray, Deirdre M.Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome sequencing. We report an excellent response to subcutaneous immunoglobulin therapy in both brothers, reducing infection burden and hospital admissions. New radiological features are also described here which may assist in the diagnosis of other patients.Item Exploring height outcomes with adjuvant aromatase inhibition in growth hormone–deficient male survivors of childhood cancer(John Wiley & Sons, Inc., 2024-05-28) Pollock, Netanya I.; Song, Minkeun; Wolf, Alexander J.; Li, Yimei; Hawkes, Colin P.; Motamedi, Niloofaralsadat; Denburg, Michelle R.; Mostoufi‐Moab, SogolBackground: Aromatase inhibitors (AI) may improve height in short stature conditions; however, the effect in childhood cancer survivors (CCS) is unknown. We assessed final adult height (FAH) in CCS treated with AI and GH compared with those treated with GH alone. Methods: Retrospective cohort study of GH-deficient male CCS treated between 2007 and 2023. FAH was noted as the height at the fusion of growth plates or 18 years of age. Multivariable linear regression was used to examine treatment association with FAH, adjusting for other risk factors. Results: Ninety-two patients were included; 70 were treated with GH and 22 with combination AI/GH. The mean age at GH initiation did not differ between groups. The mean age at AI initiation was 13.7 ± 1.9 years. A greater proportion of patients in the AI/GH group were treated with stem cell transplantation, abdominal radiation, total body irradiation, and cis-retinoic acid (p < .01). Multivariable linear regression demonstrated no significant treatment association with FAH Z-score (β = 0.04, 95% CI: −0.9 to 0.9). History of spinal radiation (β = −0.93, 95% CI: −1.7 to −0.2), lower starting height Z-score (β = −0.8, 95% CI: −1.2 to −0.4), and greater difference between bone age and chronological age (β = −0.3, 95% CI: −0.5 to −0.07) were associated with lower FAH Z-score. Conclusions: Adjuvant AI was not associated with increased FAH in male CCS compared with GH monotherapy. Future work is needed to determine the optimal adjunctive treatment to maximize FAH for this population.Item Improving the quality of newborn feeding documentation in an EHR using a mixed methods approach(Elsevier Ltd., 2024-07-24) Sheehan, Orla Maria; Greene, Richard A.; Corcoran, Paul; McKernan, Joye; Murphy, BrendanIntroduction: Newborn feeding is key to infant growth and survival. Accurate feeding documentation can inform care decisions and planning of care. A nutritional dashboard is available within the Electronic Health Record (EHR) which accumulates feeding data in a graphical display. Purpose: To improve the quality of newborn feeding documentation for post-natal ward babies and babies in the Neonatal Intensive Care Unit (NICU). Design and Methods: A multidisciplinary end user expert group (n = 38) was established. Qualitative thematic analyses from this group were used to design new feeding data entry and review elements. Quantitative pre-post design was used to assess feeding documentation for both post-natal ward baby charts (n = 134) and NICU baby charts (n = 188). Descriptive statistics and Pearson's chi-square were used to assess pre-post differences and statistical significance. The use of a nutritional dashboard was assessed using system audit logs and analyzed using Poisson regression testing. Results: Post-natal ward babies had improvements in structured feeding documentation by 91.6% (from 17.9% to 34.3%) (p = 0.031). NICU data feeding documentation improved by 25% (from 72.3% to 90.4%) (p = 0.001). Use of the nutritional dashboard however reduced in the post period. Conclusion: This study has positively demonstrated improvements in the quality of newborn feeding documentation within the patient's EHR can be achieved through a collaborative multidisciplinary approach optimising EHR design. Practice implications: The benefit of a multidisciplinary approach to EHR design is paramount to promoting superior quality data entry compliant with individual workflows.Item Early cardiac and cerebral hemodynamics with umbilical cord milking compared with delayed cord clamping in infants born preterm(Elsevier Inc., 2020-07-22) Katheria, Anup C.; Szychowski, Jeff M.; Essers, Jochen; Mendler, Marc R.; Dempsey, Eugene M.; Schmölzer, Georg M.; Arnell, Kathy; Rich, Wade D.; Hassen, Kasim; Allman, Phillip; Varner, Michael; Cutter, Gary R.; Finer, NeilObjective: To evaluate changes in cerebral oxygenation, peripheral arterial oxygenation, respiratory status, and administered fraction of inspired oxygen during the first 10 minutes of life in premature infants receiving umbilical cord milking compared with delayed cord clamping (DCC). Study design: Premature infants born at 230/7 to 276/7 weeks of gestation were randomized to umbilical cord milking or DCC. A near infrared spectroscopy sensor, pulse oximeter, and electrocardiogram electrodes were placed. Pulse rate, cerebral tissue oxygenation, peripheral oxygen saturation, airway pressure, and fraction of inspired oxygen were collected for 10 minutes in the delivery room. Longitudinal models were used to compare effects of umbilical cord milking and DCC. Results: Fifty-six infants had cerebral oximetry and advanced monitoring at birth. There was an increased incidence of severe intraventricular hemorrhage in infants who received umbilical cord milking compared with DCC (P = .0211). Longitudinal models suggested that peripheral oxygen saturation was higher in the umbilical cord milking group in the first 4 minutes (P = .0221) and that mean airway pressures were lower in the umbilical cord milking group after the first 7 minutes (P = .0072). No statistical differences were observed for fraction of inspired oxygen, cerebral tissue oxygenation, or heart rates. Conclusions: The data suggest that the rapid transfer of blood during umbilical cord milking may facilitate lung expansion with improved pulmonary blood flow, but may also increase cerebral blood flow, resulting in severe intraventricular hemorrhage.Item Maternal mid-gestation cytokine dysregulation in mothers of children with autism spectrum disorder(Springer, 2021-09-09) Casey, Sophie; Carter, Michael; Looney, Ann-Marie; Livingstone, Vicki; Moloney, Gerard M.; O'Keeffe, Gerard W. ; Taylor, Rennae S.; Kenny, Louise C.; McCarthy, Fergus P.; McCowan, Lesley M. E.; Thompson, John M. D.; Murray, Deirdre M.; SCOPE Consortium; Irish Research Council; National Children's Research Centre, Ireland; Health Research Board; Science Foundation Ireland; Health Research Board of Ireland; New Enterprise Research Fund, New Zealand; Foundation for Research, Science and Technology; Health Research Council of New Zealand; Evelyn Bond Fund, New Zealand; Auckland District Health Board Charitable Trust, New ZealandAutism spectrum disorder (ASD) is a developmental disorder characterised by deficits in social interactions and communication, with stereotypical and repetitive behaviours. Recent evidence suggests that maternal immune dysregulation may predispose offspring to ASD. Independent samples t-tests revealed downregulation of IL-17A concentrations in cases, when compared to controls, at both 15 weeks (p = 0.02), and 20 weeks (p = 0.02), which persisted at 20 weeks following adjustment for confounding variables. This adds to the growing body of evidence that maternal immune regulation may play a role in foetal neurodevelopment.