74 results match your criteria: "Murdoch Children's Research Institute Melbourne[Affiliation]"
Grimontia hollisae, an uncommon cause of sepsis, was identified in a 9-month-old infant in Africa without confirmed seafood consumption. Prompt diagnosis through blood culture and targeted antibiotic therapy ensured recovery, emphasizing the need for increased awareness, enhanced diagnostic tools, and active monitoring of emerging pathogens in tropical and resource-limited regions. We present a case report involving a 9-month-old infant who exhibited symptoms of acute gastroenteritis.
View Article and Find Full Text PDFBackground: Hepatic glycogen storage diseases (GSDs) are characterised by enzyme defects affecting liver glycogen metabolism, where carbohydrate supplementation to prevent overnight hypoglycaemia is common. Concerns around sleep quality in hepatic GSDs relate to emerging evidence that overnight dysglycaemia impacts sleep quality.
Methods: This prospective observational study reported sleep quality and duration in children with hepatic GSDs over 7 days utilising: actigraphy (Actiwatch 2 by Phillips Respironics), sleep diaries, proxy reported age-appropriate sleep and quality-of-life (QoL) questionnaires, in the context of nocturnal glycaemic profiles continuous glucose monitor (CGM, Dexcom G6) and nocturnal dietary management strategies.
Adv Exp Med Biol
November 2024
Department of Neurosurgery, Alfred Hospital, Melbourne, VIC, Australia.
J Am Heart Assoc
August 2024
Heart and Mind Wellbeing Center Heart Institute and Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine Cincinnati OH United States.
JIMD Rep
July 2024
Department of Metabolic Medicine, The Royal Children's Hospital Melbourne Australia.
Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss of function variants in one of five known canonical genes involved in chylomicron lipolysis and clearance-, , , , and . Pathogenic variants in , which encodes the hydrolytic enzyme lipoprotein lipase, account for over 80%-90% of cases. FCS may present in infancy with hypertriglyceridemia-induced acute pancreatitis and is challenging to manage both acutely and in the long-term.
View Article and Find Full Text PDFKey Clinical Message: (. ), a rare opportunistic pathogen, caused sepsis in a malnourished 15-month-old African child. Early detection and appropriate antibiotics led to full recovery, highlighting the importance of robust surveillance for emerging pathogens in vulnerable populations.
View Article and Find Full Text PDFAlthough sucrose is widely administered to hospitalized infants for single painful procedures, total sucrose volume during the entire neonatal intensive care unit (NICU) stay and associated adverse events are unknown. In a longitudinal observation study, we aimed to quantify and contextualize sucrose administration during the NICU stay. Specifically, we investigated the frequency, nature, and severity of painful procedures; proportion of procedures where neonates received sucrose; total volume of sucrose administered for painful procedures; and incidence and type of adverse events.
View Article and Find Full Text PDFtandem duplications are recurrent in adult and paediatric acute myeloid leukaemia and have been reported to be associated with a poor prognosis. Co-mutations in and are common while morphological dysplasia is frequent. The role of UBTF-TDs in leukemogenesis is yet to be elucidated; however they have been proposed as early initiating events, making them attractive for assessment of MRD and a potential therapeutic target.
View Article and Find Full Text PDFAllergy
February 2024
Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Clin Neurophysiol
December 2023
Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Objective: To describe and assess performance of the Correlate Of Injury to the Nervous system (COIN) index, a quantitative electroencephalography (EEG) metric designed to identify areas of cerebral dysfunction concerning for stroke.
Methods: Case-control study comparing continuous EEG data from children with acute ischemic stroke to children without stroke, with or without encephalopathy. COIN is calculated continuously and compares EEG power between cerebral hemispheres.
Contiguous / deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, and (formerly known as ). Only nine individuals with this diagnosis have been reported in the medical literature to date. Intragenic loss-of-function variants in cause the deafness, dystonia, and cerebral hypomyelination syndrome (DDCH).
View Article and Find Full Text PDFObjective: Pacing in a univentricular circulation has been associated with worsened outcomes. We investigated the long-term outcomes of pacing in children with a univentricular circulation compared to a complex biventricular circulation. We also identified predictors of adverse outcomes.
View Article and Find Full Text PDFAppl Clin Inform
January 2023
Department of Paediatrics, Centre for Health Analytics, Murdoch Children's Research Institute Melbourne, Australia.
Background: Social media platforms have emerged as a valuable data source for public health research and surveillance. Monitoring of social media and user-generated data on the Web enables timely and inexpensive collection of information, overcoming time lag and cost of traditional health reporting systems.
Objectives: This article identifies personally experienced coronavirus disease 2019 (COVID-19) vaccine reactions expressed on Twitter and validate the findings against an established vaccine reactions reporting system.
Biallelic pathogenic variants in , a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clinical spectrum of NDUFS8-related disorder. We present three cases from two unrelated families (a girl and two brothers) homozygous for a recurrent pathogenic variant [c.
View Article and Find Full Text PDFBackground Patients with a single ventricle who experience early life growth failure suffer high morbidity and mortality in the perisurgical period. However, long-term implications of poor infant growth, as well as associations between body mass index (BMI) and outcome in adulthood, remain unclear. We aimed to model BMI trajectories of patients with a single ventricle undergoing a Fontan procedure to determine trajectory-based differences in baseline characteristics and long-term clinical outcomes.
View Article and Find Full Text PDFNutrients
August 2022
Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University Melbourne, Victoria 3168, Australia.
Ann Allergy Asthma Immunol
October 2022
Center for Food Allergy & Asthma Research and Institute for Public Health and Medicine, Northwestern Feinberg School of Medicine, Chicago, Illinois; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
Objective: This review characterizes what is currently known about how prevalence, severity, distribution, and management of food allergy (FA) differ across socioeconomic strata and provides guidance for practicing clinicians about how to improve equity in research participation, health care delivery, and patient outcomes through a deeper understanding of the socioeconomic determinants of FA.
Data Sources: Epidemiologic and biomedical literature published before April 2022.
Results: Socioeconomic status (SES) is a complex concept that encompasses not only economic resources (eg, income, wealth) but also a person's social, economic, and political power and standing, each of which can affect health.
Reducing the rate of over-representation of Aboriginal and Torres Strait Islander children in out-of-home care (OOHC) is a key Closing the Gap target committed to by all Australian governments. Current strategies are failing. The "gap" is widening, with the rate of Aboriginal and Torres Strait Islander children in OOHC at 30 June 2020 being 11 times that of non-Indigenous children.
View Article and Find Full Text PDFAm J Respir Crit Care Med
October 2022
Allergy Immunology Murdoch Children's Research institute Melbourne, Australia.