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Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies.

The ETO2 transcriptional cofactor maintains acute leukemia by driving a MYB/EP300-dependent stemness program

Transcriptional cofactors of the ETO family are recurrent fusion partners in acute leukemia. We characterized the ETO2 regulome by integrating transcriptomic and chromatin binding analyses in human erythroleukemia xenografts and controlled ETO2 depletion models. We demonstrate that beyond its well-established repressive activity, ETO2 directly activates transcription of MYB, among other genes.

Financial incentives to motivate treatment for hepatitis C with direct acting antivirals among Australian adults

Untreated hepatitis C virus (HCV) infection can result in cirrhosis and hepatocellular cancer. Direct-acting antiviral (DAA) therapies are highly effective and have few side effects compared to older interferon-based therapy. Despite the Australian government providing subsidised and unrestricted access to DAA therapy for chronic HCV infection, uptake has not been sufficient to meet the global target of eliminating HCV as a public health threat by 2030. 

An Expanded Conceptual Framework for Understanding Irritability in Childhood: The Role of Cognitive Control Processes

Children prone to irritability experience significant functional impairments and internalising and externalising problems. Contemporary models have sought to elucidate the underlying mechanisms in irritability, such as aberrant threat and reward biases to improve interventions. 

Characterising Insistence on Sameness and Circumscribed Interests: A Qualitative Study of Parent Perspectives

Manifestations of insistence on sameness and circumscribed interests are complex, with individuals varying considerably, not only in the types of behaviours they express, but also in terms of a behaviour's frequency, intensity, trajectory, adaptive benefits, and impacts.

Health and well-being needs of Indigenous adolescents: A protocol for a scoping review of qualitative studies

Improving the health of Indigenous adolescents is central to addressing the health inequities faced by Indigenous peoples. To achieve this, it is critical to understand what is needed from the perspectives of Indigenous adolescents themselves. There have been many qualitative studies that capture the perspectives of Indigenous young people, but synthesis of these has been limited to date. 

Shoulder dystocia in babies born to Aboriginal mothers with diabetes: a population-based cohort study, 1998–2015

Australian Aboriginal and Torres Strait Islander women with diabetes in pregnancy (DIP) are more likely to have glycaemic levels above the target range, and their babies are thus at higher risk of excessive fetal growth. Shoulder dystocia, defined by failure of spontaneous birth of fetal shoulder after birth of the head requiring obstetric maneuvers, is an obstetric emergency that is strongly associated with DIP and fetal size.

Group A streptococcal vaccines: Paving a path for accelerated development

Vaccine prevention of GAS infections and their immunological complications has been a goal of researchers for decades.

Early Onset Binge Eating and Purging Eating Disorders: Course and Outcome in a Population-Based Study of Adolescents

Purging at age 17 and externalising behaviour problems at age 14 were the strongest predictors of eating disorder persistence to age 20.

Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study

Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor.