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 PDF

Background: 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.

View Article and Find Full Text PDF
Article Synopsis
  • Computational neurosurgery combines artificial intelligence and computational modeling to enhance the diagnosis and treatment of neurosurgical conditions, aiming to advance clinical neurosciences.
  • The field seeks to integrate ethical considerations to ensure that the use of AI is conducted responsibly and prioritizes patient care, ultimately aiming to prevent errors in treatment.
  • This initiative serves as a guide for practitioners, ethicists, and scientists in the application of ethical standards within computational neurosurgery.
View Article and Find Full Text PDF

Quality of Life and Well-Being in Adults With Fontan Physiology: Findings From the Australian and New Zealand Fontan Registry Quality of Life Study.

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.

Article Synopsis
  • A study assessed the global and health-related quality of life (QOL) among 66 adults with Fontan physiology in Australia and New Zealand, finding lower QOL compared to community norms.
  • Health-related QOL was significantly impacted by factors such as age, sex, education, hospital stays, and various types of psychological stress.
  • The research highlights the need for tailored support and proactive care to improve QOL for Fontan patients, as psychological and relational elements were major contributors to their lower reported outcomes.*
View Article and Find Full Text PDF

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 PDF

Key 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 PDF

Although 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 PDF

tandem 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 PDF

Systematic review and meta-analyses on the accuracy of diagnostic tests for IgE-mediated food allergy.

Allergy

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.

Article Synopsis
  • - The European Academy of Allergy and Clinical Immunology (EAACI) is revising their guidelines for diagnosing IgE-mediated food allergies, aiming to consolidate findings from 149 studies involving 24,489 patients published between 2012 and 2021.
  • - Systematic reviews and meta-analyses revealed that skin prick tests (SPT) for fresh cow's milk and raw egg showed high sensitivity (90% and 94%), while specific IgE tests for individual food components demonstrated high specificity for various allergens like peanuts and eggs.
  • - The basophil activation test (BAT) was found to be highly specific for diagnosing peanut (90%) and sesame (93%) allergies, indicating that while SPT and specific Ig
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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 PDF
Article Synopsis
  • * A case study is presented of a male infant who showed early signs of severe health issues, including apnoea and dystonic crises, leading to his death at 16 weeks, without seizure activity or other multisystem disease.
  • * Genetic analysis identified two biallelic variants in the CARS2 gene, affecting mitochondrial tRNA for cysteine, confirming this case as the earliest known instance of CARS2 deficiency with specific symptoms of dystonia and apnoea, but no epilepsy.
View Article and Find Full Text PDF

Objective: 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 PDF
Article Synopsis
  • The study focused on estimating the household secondary infection attack rate (hSAR) of SARS-CoV-2 using data from WHO protocols and involved a systematic review and meta-analysis of relevant articles published from December 2019 to July 2021.
  • Out of nearly 10,000 records, 80 articles were selected, with 62 included in the main analysis, revealing hSAR estimates that varied widely from 2% to 90%, indicating significant heterogeneity in the results.
  • The findings highlight the importance of standardizing methodologies in future investigations to improve pandemic preparedness and response for COVID-19 and other respiratory viruses.
View Article and Find Full Text PDF
Article Synopsis
  • Homeless young adults are more likely to get in trouble with the police and be involved in crime or violence.
  • A study followed young adults in Australia over a few years to see how being homeless affected their behavior and experiences with violence.
  • The results showed that while homelessness was linked to risky behavior and being hurt, these problems didn't last over time, meaning they might not always be connected.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF
Article Synopsis
  • CTBP1 is a transcriptional corepressor important for nervous system growth and development, with pathogenic gene variants linked to conditions like hypotonia and developmental delays.
  • Only 16 cases of pathogenic variants have been documented, but a new case is reported involving a female patient with global developmental delay and muscle issues identified through whole exome sequencing.
  • Muscle biopsy results also show a unique respiratory chain defect, suggesting CTBP1's role in maintaining mitochondrial function and indicating that genes unrelated to mitochondrial processes can still affect mitochondrial health.
View Article and Find Full Text PDF

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 PDF

Background 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 PDF

The Relationship between Obesity and Clinical Outcomes in Young People with Duchenne Muscular Dystrophy.

Nutrients

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.

Article Synopsis
  • Duchenne muscular dystrophy (DMD) is a serious genetic disorder affecting muscles, with a high percentage of affected young people experiencing obesity, which could worsen health outcomes.
  • A study reviewed the clinical data of 158 young boys with DMD to assess how obesity influences their health milestones, finding a significant rise in obesity rates as they aged.
  • The results showed that obesity in boys with DMD led to earlier diagnoses of obstructive sleep apnoea and fractures, emphasizing the need for early weight management interventions to mitigate these risks.
View Article and Find Full Text PDF

Socioeconomic determinants of food allergy burden: A clinical introduction.

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.

View Article and Find Full Text PDF

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 PDF