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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

How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.

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Overweight/obesity and other predictors of gestational diabetes among Aboriginal and non-Aboriginal women in Western Australia

This population-based study investigated the association of BMI and other predictors with gestational diabetes mellitus among Australian Aboriginal and non-Aboriginal mothers. We conducted a state-wide retrospective cohort study that included all singleton births in Western Australia between 2012 and 2015 using population health datasets linked by the Western Australian Data Linkage Branch.

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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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Hybrid Closed-Loop Versus Manual Insulin Delivery in Adults With Type 1 Diabetes: A Post Hoc Analysis Using the Glycemia Risk Index

Glycemia risk index (GRI) is a novel composite metric assessing overall glycemic risk, accounting for both hypoglycemia and hyperglycemia and weighted toward extremes. Data assessing GRI as an outcome measure in closed-loop studies and its relation with conventional key continuous glucose monitoring (CGM) metrics are limited.

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.

Research

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

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. 

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In safe hands: child health data storage, linkage and consent for use

While there is potential for societal benefit from linkage and integration of large datasets, there are gaps in our understanding of the implications for children and young people, and limited inclusion of their views within this discourse. We aimed to understand the views and expectations of children, young people and their parents/caregivers in Aotearoa New Zealand regarding child health data storage, linkage and consent for use.

Research

Gut microbiota and metabolomics profiles in patients with chronic stable angina and acute coronary syndrome

Cardiovascular disease is the leading cause of death worldwide. The gut microbiota and its associated metabolites may be involved in the development and progression of CVD, although the mechanisms and impact on clinical outcomes are not fully understood. This study investigated the gut microbiome profile and associated metabolites in patients with chronic stable angina and acute coronary syndrome compared with healthy controls.