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Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.
The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.
Repetitive Negative Thinking (RNT) during pregnancy is a key risk factor for psychopathology in the perinatal period. However, the cognitive mechanisms underlying prenatal RNT remain poorly understood. Recent research has suggested that a tendency to volitionally seek negative rather than positive information (i.e., biased information seeking) may contribute to the formation of more negative prenatal expectations, which in turn predict elevated prenatal RNT.
The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.
The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas.
Sleep disturbance is a common and significant issue for individuals with CDKL5 Deficiency Disorder (CDD) and their families. The study aimed to investigate experiences of sleep disturbance in CDD and associated factors.
High-grade glioma (HGG) cells reactivate neurodevelopmental programs regulated by ion channels to drive tumor progression. The activity of voltage-gated sodium channels (VGSCs) is fundamental to development, a target of blood-brain barrier (BBB)-permeable FDA-approved drugs, and aids tumor advancement in several cancers. However, the contribution of VGSC activity to HGG pathology remains unknown.
This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthcare that meets their needs.
Malaria is a focal disease and more localized in low endemic areas. The disease is increasingly becoming a concern in urban areas in most sub-Saharan African countries. The growing threats of Anopheles stephensi and insecticide resistance magnify this concern and hamper elimination efforts. It is, therefore, imperative to identify areas, within urban settings, of high-risk of malaria to help better target interventions.
Robust evaluation is critical for understanding and enhancing the impact of health promotion initiatives. However, many community-based organisations face challenges in planning and conducting evaluation due to limitations in knowledge, resources, and the applicability of existing evaluation frameworks. The Healthway Evaluation Framework, and its accompanying practical Measurement Toolkit, was designed to support evaluation planning, implementation, and reporting across diverse health promotion programs and settings.