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Research

Childhood renal masses comprise a heterogeneous group of conditions that have a wide range of presentations. This review outlines an approach to the diagnostic work-up of childhood renal masses and discusses the most common presentations and treatments. Renal tumours make up 5% of childhood cancer in Australia, with Wilms tumour being the most common under age 10 years.

Research

Adolescents and young adults with type 1 diabetes have an increased risk of psychological distress. To address this, psychological support provided asynchronously via an app may be feasible. Our study aimed to explore feasibility and safety of the LIFT wellbeing app.

Research

Acquisition and development of the oral microbiome are dynamic processes that occur over early life. This study aimed to characterize the temporal development of the oral microbiome of predominantly breastfed infants during the first two years of life.

Research

Although Streptococcus pyogenes (Strep A) is the sixth-most common infectious disease globally, its transmission within the household remains an understudied driver of infection. We undertook a systematic review to better understand the transmission of Strep A among people within the home, while highlighting opportunities for prevention. 

Research

Skin concerns are frequent among urban-living Aboriginal children, yet specialist dermatology consultations are limited with studies highlighting the need for improved cultural security. Through newly established paediatric dermatology clinics at two urban Aboriginal Community Controlled Health Organisations (ACCHOs), we aimed to describe clinic and patient data, including disease frequencies and associations, to inform dermatology service provision and advocacy. 

Research

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. 

Research

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.

Research

In 2023 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was declared endemic, yet hospital admissions have persisted and risen within populations at high and moderate risk of developing severe disease, which include those of older age, and those with co-morbidities. Antiviral treatments, currently only available for high-risk individuals, play an important role in preventing severe disease and hospitalisation within this subpopulation.

Research

Seasonal malaria chemoprevention (SMC) with sulfadoxine-pyrimethamine plus amodiaquine prevents millions of clinical malaria cases in children younger than 5 years in Africa's Sahel region. However, Plasmodium falciparum parasites partially resistant to sulfadoxine-pyrimethamine (with quintuple mutations) potentially threaten the protective effectiveness of SMC. We evaluated the spread of quintuple-mutant parasites and the clinical consequences. 

Research

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.