A5102952431- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Child Nutrition and Water Access
- Pediatric Pain Management Techniques
- Infant Development and Preterm Care
- Endoplasmic Reticulum Stress and Disease
- Infant Health and Development
- Iron Metabolism and Disorders
- Esophageal and GI Pathology
- Diet and metabolism studies
- Cystic Fibrosis Research Advances
- Child Nutrition and Feeding Issues
- Tracheal and airway disorders
- Pharmacological Effects and Toxicity Studies
- Redox biology and oxidative stress
- Clinical Nutrition and Gastroenterology
- Congenital Diaphragmatic Hernia Studies
- Shoulder Injury and Treatment
- ATP Synthase and ATPases Research
- Pediatric Urology and Nephrology Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Neonatal and fetal brain pathology
Children's Health Ireland at Crumlin
2021-2024
Temple Street Children's University Hospital
2016-2022
Cork University Hospital
2019
Our Lady's Hospital
2019
Johns Hopkins University
2007
Amino acid (AA)-related inherited metabolic disorders (IMDs) and urea cycle (UCDs) require strict dietary management including foods low in protein such as fruits, vegetables starchy roots. Despite this recommendation, there are limited data on the AA content of many these foods. The aim study is to describe an analysis a range roots, specifically focusing amino acids (AAs) relevant AA-related IMDs phenylalanine (Phe), methionine (Met), leucine (Leu), lysine (Lys) tyrosine (Tyr). was...
Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. comprises 44 structural subunits at least 10 ancillary proteins; mutations in 29 of these have so far been but there are limited genotype-phenotype correlations to guide clinicians correct genetic diagnosis.Patients were analysed by whole-exome sequencing, targeted capture or candidate gene sequencing. Clinical phenotyping affected individuals was...
The high incidence of anemia infection among children in developing countries is not well characterized. We investigated the relationship between diarrhea, fever and other risk factors for young community. was examined a cross-sectional study 85 229 children, aged 6–59 months, from impoverished families rural areas Indonesia. prevalence 56.1% subjects. Those considered anemic were more likely to be younger, male, stunted, underweight, wasted, have low maternal paternal education current...
This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) infancy resulting from biallelic pathogenic TRMU variants determine role cysteine supplementation in its treatment.
Abstract Aim To investigate the effect of a musical intervention on neonatal stress response to venepuncture as measured by salivary cortisol levels and pain profile scores. Methods In randomised control crossover trial, participants were both arm (sucrose) (sucrose music) for routine procedures. Salivary swabs collected at baseline, 20 minutes post‐venepuncture 4 hours post‐venepuncture. Pain assessed using Premature Infant Profile (PIPP). A total 16 preterm neonates participated in arms...
Objective Current guidelines for percutaneous endoscopic gastrostomy (PEG) placement focus largely on maintaining enteral feeding when oral is no longer possible or adequate with an emphasis nutrition and quality of life (QOL). Previous publications have also alluded to potential benefits in medication adherence, example, children HIV, renal disease neurodisability. We describe a cohort refractory epilepsy who refused whom PEG tube was initiated the purpose drug administration. Design...
Inborn errors of metabolism are an individually rare but collectively significant cause mortality and morbidity in the neonatal period. They identified by either newborn screening programmes or clinician-initiated targeted biochemical screening. This study examines relative contribution these two methods to identification inborn describes incidence conditions a large, tertiary, unit. We also examined which factors could impact reliability metabolic testing this cohort. is retrospective,...
expanding-the-phenotypic-spectrum-of-methylenetetrahydrofolatereductase-mthfr-deficiency-in-childhood-a-case-series Hosted
<h3>Background</h3> Music therapy may be beneficial for relieving pain associated with Neonatal Intensive Care Unit procedures. The aim of this study was to assess the effect music on EEG and HRV premature infants during painful <h3>Methods</h3> This a randomised crossover in newborns delivered before 32weeks gestational age (GA). Infants were receive initially either sucrose or (Brahms' lullaby) routine venepuncture. had multichannel recorded procedure, ECG part montage. Three 2-minute...
Abstract Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants MTFMT have been described association with clinical presentations Leigh syndrome, as well multisystem involvement (particularly cardiac and ocular involvement). There a spectrum severity, but many reported milder better prognosis than other pathogenic associated syndrome. We describe case 9‐year‐old boy homozygous variant (c.626C >...
<h3>Background</h3> Cerebral creatine deficiency is caused by rare inherited disorders of either biosynthesis (i.e. guanidinoacetate methyltransferase (GAMT) and arginine:glycine amidinotransferase (AGAT) deficiency), or transport transporter deficiency, CRTR). Clinical features include variable hypotonia, speech delay (often the dominant feature), seizures, extrapyramidal signs behavioural issues. Patients may have feeding issues low weight. There some evidence that early treatment these...
<h3></h3> To assess clinical characteristics and indication for imaging of the patients who have had indirect MAG3 cystography (IRC) performed in CHI at Crumlin Temple Street, whether it changed patient management. In this retrospective audit we identified all children IRC Street last 4 years by searching radiology systems. Data collected included age time scan, results a conventional micturating cystourethrogram (MCUG) previously/subsequently been performed, what changes were made to N=36...