17 results match your criteria: "Murdoch Children's Research Institute Parkville Victoria Australia.[Affiliation]"

The traditional gut-centric view of coeliac disease is evolving as immune and genetic insights underscore the central importance of a systemic, T cell immune response to gluten in disease pathogenesis. As the field increasingly recognize the limitations of small intestinal histology as the diagnostic standard, data supporting the accuracy of an immune (serologic) diagnosis of coeliac disease - well demonstrated in children - are growing for adults. Novel biomarkers such as interleukin-2 that identify the gluten-specific T cell demonstrate high sensitivity and specificity for coeliac disease and offer the potential for a diagnostic approach that avoids the need for gluten challenge.

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Background And Aim: People with inflammatory bowel disease (IBD) have an increased risk of cardiovascular disease, including in younger adulthood. This may arise in part from chronic, systemic low-grade inflammation. The process of atherosclerosis may begin in childhood.

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Objective: Currently there is no parent administered scale for facial nerve function in children. We set out to assess the agreement between a newly developed parent-administered modified version of the House-Brackmann (HB) scale and the standard clinician-administered HB scale in children with Bell's palsy.

Study Design: Secondary analysis of a triple-blind, randomized, placebo-controlled trial of corticosteroids to treat idiopathic facial paralysis (Bell's palsy) in children (6 months to <18 years).

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Article Synopsis
  • During Victoria's ongoing lockdown, there was a notable increase in job/income loss (11%) and poor mental health among caregivers (6%), with perceived negative impacts on both caregiver and child mental health increasing by 14% and 12%, respectively.
  • The study found that female caregivers, metropolitan families, and families with younger children were most adversely affected, highlighting the need for targeted financial and mental health support in future lockdowns.
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Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. We describe a case of an 18-year-old man with p.F508del/p.

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Background: Increasing specialisation and technical sophistication of medical tools across the 21st century have contributed to dramatic improvements in the life-expectancy of children and adolescents with complex physical health problems. Concurrently, there is growing appreciation within the community of the extent that children and adolescents experience mental disorders, which are more prevalent in those with complex chronic, serious or life-limiting health conditions. In this context, there are compelling reasons for paediatric services to move to a model of care that promotes greater integration of child psychiatry within the medical, somatic teams that care for children and adolescents in children's hospitals.

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Background: The Friedreich Ataxia Rating Scale (FARS) and the Scale for the Assessment and Rating of Ataxia (SARA) are commonly used neurological rating scales in Friedreich ataxia (FRDA). The modified Friedreich Ataxia Rating Scale (mFARS) has been accepted as an appropriate outcome measure for clinical trials in FRDA.

Objectives: The COVID-19 pandemic has resulted in limited face-to-face interactions with individuals involved in natural history studies and clinical trials.

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Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either or , which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive accumulation of plant sterols in blood and tissues. Clinical presentation is variable and may include xanthoma, arthritis, thyroid dysfunction, premature atherosclerotic disease, splenomegaly, and hematologic manifestations.

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Background We sought to characterize body composition abnormalities in young patients living with a Fontan circulation and explore potential pathophysiologic associations. Methods and Results Twenty-eight patients with a Fontan circulation were prospectively recruited in this cross-sectional study. Participants underwent cardiopulmonary exercise testing, dual-energy X-ray absorptiometry, echocardiography, and biochemical assessment.

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Background Despite declining US adolescent smoking prevalence from 40% among 12th graders in 1995 to around 10% in 2018, adolescent smoking is still a significant problem. Using the International Childhood Cardiovascular Cohort (i3C) Consortium, which includes 7 international cohorts recruited in childhood and followed into adulthood, the present study was designed to confirm the important relation between adolescent smoking and daily adult smoking and present new data on adult smoking into the forties and comparison of smoking in the United States, Finland, and Australia. Methods and Results Childhood smoking experience during ages 6 to 19 in the 1970s and 1980s was classifiable in 6687 i3C participants who also provided smoking status in their twenties and forties through 2011-2018.

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Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first-line genetic test for patients with dilated cardiomyopathy in a contemporary "real-world" setting has not been specifically established. Using whole exome sequencing with rigorous, evidence-based variant interpretation, we aimed to identify the prevalence of a molecular diagnosis in patients with dilated cardiomyopathy in a clinical setting.

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Article Synopsis
  • - The study examined the occurrence, causes, and effectiveness of genetic testing in infants with developmental and epileptic encephalopathies (DEEs) in Tasmania, focusing on those diagnosed between 2011 and 2016 who had experienced seizures before age 2 and other related symptoms.
  • - Among the 16 identified cases, the incidence of infantile DEEs was found to be 0.44 per 1,000 infants per year, with structural causes in 5 cases and genetic factors in 6 cases, using gene panels and whole exome sequencing (WES).
  • - The research highlights that a methodical approach combining clinical imaging and advanced genetic testing significantly improves diagnostic outcomes for infantile DEEs, which can aid in
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Background High-throughput nuclear magnetic resonance profiling of circulating metabolites is suggested as an adjunct for cardiovascular risk evaluation. The relationship between metabolites and subclinical atherosclerosis remains unclear, particularly among children. Therefore, we examined the associations of metabolites with carotid intima-media thickness ( cIMT ) and arterial pulse wave velocity ( PWV ).

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We report a novel 9q31.2q32 (chr9: 109195179-113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities.

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Aims: Exclusion of ermentable ligosaccharides, isaccharides, onosaccharides, and olyols (FODMAPs) from the diet is effective in alleviating symptoms of irritable bowel syndrome (IBS) in adults. Rapid-transit constipation (RTC) is a recently discovered subset of chronic constipation and has been linked to food intolerance. The aim of this study was to audit the effect of specific FODMAP elimination diets in children with RTC.

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