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Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia.

Spatio-temporal monitoring of health facility-level malaria trends in Zambia and adaptive scaling for operational intervention

The spatial and temporal variability inherent in malaria transmission within countries implies that targeted interventions for malaria control in high-burden settings and subnational elimination are a practical necessity. Identifying the spatio-temporal incidence, risk, and trends at different administrative geographies within malaria-endemic countries and monitoring them in near real-time as change occurs is crucial for developing and introducing cost-effective, subnational control and elimination intervention strategies.

Haemolysis Detection in MicroRNA-Seq from Clinical Plasma Samples

The abundance of cell-free microRNA (miRNA) has been measured in blood plasma and proposed as a source of novel, minimally invasive biomarkers for several diseases. Despite improvements in quantification methods, there is no consensus regarding how haemolysis affects plasma miRNA content.

Changes to the Gut Microbiome in Young Children Showing Early Behavioral Signs of Autism

The human gut microbiome has increasingly been associated with autism spectrum disorder (ASD), which is a neurological developmental disorder, characterized by impairments to social interaction.

A mixed-methods evaluation of a health-promoting café located in a small health service in rural Victoria, Australia

Residents of rural areas internationally typically experience chronic disease risk profiles worse than city dwellers. Poor diet, a key driver of chronic disease, has been associated with unhealthy food environments, and rural areas often experience limited access to healthy, fresh and affordable food.

A Journey from Wild to Textbook Data to Reproducibly Refresh the Wages Data from the National Longitudinal Survey of Youth Database

Textbook data is essential for teaching statistics and data science methods because it is clean, allowing the instructor to focus on methodology. Ideally textbook datasets are refreshed regularly, especially when they are subsets taken from an ongoing data collection.

Neuroanatomical heterogeneity and homogeneity in individuals at clinical high risk for psychosis

Individuals at Clinical High Risk for Psychosis (CHR-P) demonstrate heterogeneity in clinical profiles and outcome features. However, the extent of neuroanatomical heterogeneity in the CHR-P state is largely undetermined.

Refining nosology by modelling variation among facial phenotypes: The RASopathies

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.

Australian Aboriginal Otitis-Prone Children Produce High-Quality Serum IgG to Putative Nontypeable Haemophilus influenzae Vaccine Antigens at Lower Titres Compared to Non-Aboriginal Children

Nontypeable Haemophilus influenzae (NTHi) is the most common bacterial otopathogen associated with otitis media (OM). NTHi persists in biofilms within the middle ears of children with chronic and recurrent OM. Australian Aboriginal children suffer exceptionally high rates of chronic and recurrent OM compared to non-Aboriginal children.

Penicillin Reactions in Patients With Severe Rheumatic Heart Disease: A Presidential Advisory From the American Heart Association

Jonathan Rosemary Carapetis AM Wyber AM MBBS FRACP FAFPHM PhD FAHMS MBChB MPH FRACGP PhD Executive Director; Co-Head, Strep A Translation; Co-Founder