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Research

Due to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on pathology (i.e., what a tumor looks like under the microscope) to thousands of diseases based on molecular tumor profiles (i.e., what a tumor looks like when its altered genome is interrogated). Most cancers arise from alterations to the genome, including changes in the number or structure of chromosomes and variations in a single building block of the genetic code.

Research

Young Australians living in rural and remote locations have poorer mental health outcomes and higher rates of self-harm and suicide than their major city counterparts. Significant service gaps and barriers exist in accessing general and youth-specific mental health services. With a lack of access, comes delays in treatment and associated poorer outcomes. This paper describes the characteristics of young people requiring an aeromedical retrieval (AR) for acute inpatient psychiatric care.

Research

CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.

Research

Since their first detection in 2010, Plasmodium falciparum malaria parasites lacking the P. falciparum histidine-rich protein 2 gene (pfhrp2) have been observed in 40 of 47 surveyed countries, as documented by the World Health Organization. These genetic deletions reduce detection by the most widely used rapid diagnostic tests, prompting three countries to switch to alternative diagnostics.

Research

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Research

There is growing interest in how and why individuals adjust their goals in response to difficulties encountered during goal striving and the outcomes of such adjustments; however, research on these topics is fragmented across theoretical perspectives and life domains. 

Research

Sepsis is a significant cause of mortality for children in Australia, particularly affecting young children, those with pre-existing health conditions and Aboriginal and Torres Strait Islander populations. The transition from hospital to home can be challenging for survivors, often leaving long-term impacts unaddressed.

Research

Managing bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.

Research

Studies reported the prevalence of herbal medicines used for various maternal conditions across regions in Tanzanian communities. However, the lack of a national estimate of herbal medicine use makes it challenging for policymakers, herbal medicine regulators, and healthcare practitioners to make informed decisions on herbal medicine-related policies and practices to optimize their contribution to maternal healthcare.

Research

Asthma affects > 10% of children in Australia and New Zealand (NZ), with up to 5% of those having severe disease, presenting a management challenge. We aimed to survey tertiary paediatric respiratory services across Australia and NZ using a custom-designed questionnaire, to conduct a cross-sectional observational study of the numbers of children with problematic severe asthma seen, the number treated with biologic therapy, outpatient clinic/multidisciplinary team services available, investigations and tools routinely used and approaches utilised for transition to adult care.