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Research

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure. 

Research

Neuropsychological profiles of adolescents sentenced to detention in Western Australia with and without prenatal alcohol exposure

Youth with prenatal alcohol exposure (PAE) are under-recognised in the justice system, warranting improved identification. This study aimed to compare neuropsychological profiles of adolescents, with and without PAE and identify neuropsychological tasks predictive of PAE-group membership. It was hypothesised that participants with PAE would score significantly lower on neuropsychological tests.

Research

An Analysis of the Gut Microbiota and Related Metabolites following PCSK9 Inhibition in Statin-Treated Patients with Elevated Levels of Lipoprotein(a)

Atherosclerotic cardiovascular disease (ASCVD) is a leading cause of global mortality, often associated with high blood levels of LDL cholesterol (LDL-c). Medications like statins and PCSK9 inhibitors, are used to manage LDL-c levels and reduce ASCVD risk. Recent findings connect the gut microbiota and its metabolites to ASCVD development.

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Mosaic Darier disease flaring following allogeneic stem cell transplant

Bernadette Ricciardo MBBS (hon) DCH FACD PhD Candidate Bernadette.Ricciardo@thekids.org.au PhD Candidate Dr Bernadette Ricciardo is a PhD student on

Research

Protocol for the development of a core outcome set for neonatal sepsis (NESCOS)

Neonatal sepsis is a serious public health problem; however, there is substantial heterogeneity in the outcomes measured and reported in research evaluating the effectiveness of the treatments. Therefore, we aim to develop a Core Outcome Set (COS) for studies evaluating the effectiveness of treatments for neonatal sepsis.

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Outcomes of latent rheumatic heart disease: External validation of a simplified score in patients with and without secondary prophylaxis

Secondary antibiotic prophylaxis reduces progression of latent rheumatic heart disease (RHD) but not all children benefit. Improved risk stratification could refine recommendations following positive screening. We aimed to evaluate the performance of a previously developed echocardiographic risk score to predict mid-term outcomes among children with latent RHD. 

Research

“You can't heal yourself in that setting and you wouldn't expect other people in this country to”: Yarning about housing and environmental health in remote Aboriginal communities

Remote Aboriginal communities in Australia are located on traditional lands holding deep cultural significance and meaning for residents. However, systemic inequity rooted in colonisation has driven persistent housing and health disparities, with inadequate environmental health conditions within homes and communities a prominent example. 

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A randomised trial of a trauma-informed well-being program to promote mental health in adolescents with type 1 diabetes: Study protocol

Children and young people with type 1 diabetes (T1D) experience high rates of mental ill health and stress due to the emotional and cognitive energy required to manage their condition. Our team has codesigned Wellbeing T1D, a brief trauma-informed online intervention for adolescents living with T1D. This 5-week intervention will teach skills to promote problem solving, improve emotional regulation and promote helpful thinking and coping.

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Confident and Trustworthy Model for Fidgety Movement Classification

General movements (GMs) are part of the spontaneous movement repertoire and are present from early fetal life onwards up to age five months. GMs are connected to infants' neurological development and can be qualitatively assessed via the General Movement Assessment. In particular, between the age of three to five months, typically developing infants produce fidgety movements and their absence provides strong evidence for the presence of cerebral palsy.

Research

Proteomics confirms immune stabilizing effects of narrowband UVB treatment in patients with clinically isolated syndrome and multiple sclerosis

Multiple sclerosis (MS) demonstrates a latitude gradient in prevalence and severity, implicating ultraviolet B (UVB) exposure and photoimmune mechanisms in disease risk and progression. While narrowband (NB)-UVB phototherapy has long stabilized inflammation in dermatology, its systemic immunomodulatory effects in MS remain incompletely defined.