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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.

Comparison of new computational methods for spatial modelling of malaria

Geostatistical analysis of health data is increasingly used to model spatial variation in malaria prevalence, burden, and other metrics. Traditional inference methods for geostatistical modelling are notoriously computationally intensive, motivating the development of newer, approximate methods for geostatistical analysis or, more broadly, computational modelling of spatial processes.

Developing type 1 diabetes resources: a qualitative study to identify resources needed to upskill and support community sport coaches

Community sport coaches in Western Australia lack an understanding, the confidence, and knowledge in supporting young people with Type 1 diabetes (T1D). This study aims to identify what T1D educational resources are required to upskill coaches in Western Australia. 

The Perth Empathy Scale: Psychometric Properties of the Polish Version and Its Mental Health Correlates

The Perth Empathy Scale (PES) is a 20-item self-report questionnaire that assesses people's ability to recognize emotions in others (i.e., cognitive empathy) and vicariously experience other's emotions (i.e., affective empathy), across positive and negative emotions. Originally developed in English, the aim of our study was to introduce the first Polish version of the PES and test its psychometric performance.

Early Peanut Immunotherapy in Children (EPIC) trial: Protocol for a pragmatic randomised controlled trial of peanut oral immunotherapy in children under 5 years of age

Food allergy is a major public health challenge in Australia. Despite widespread uptake of infant feeding and allergy prevention guidelines the incidence of peanut allergy in infants has not fallen, and prevalence of peanut allergy in school-aged children continues to rise. Therefore, effective and accessible treatments for peanut allergy are required.

Inflammation risk before cardiac surgery and the treatment effect of intraoperative dexamethasone

Patients who exhibit high systemic inflammation after cardiac surgery may benefit most from pre-emptive anti-inflammatory treatments. In this secondary analysis of the randomised, double-blind Intraoperative High-Dose Dexamethasone for Cardiac Surgery trial, we set out to develop an inflammation risk prediction model and assess whether patients at higher risk benefit from a single intraoperative dose of dexamethasone.

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity. 

Transparent reporting of adaptive clinical trials using concurrently randomised cohorts

Adaptive clinical trials have designs that evolve over time because of changes to treatments or changes to the chance that participants will receive these treatments. These changes might introduce confounding that biases crude comparisons of the treatment arms and makes the results from standard reporting methods difficult to interpret for adaptive trials. To deal with this shortcoming, a reporting framework for adaptive trials was developed based on concurrently randomised cohort reporting. 

Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors: The AIM BRAIN Project: An Australian and New Zealand Children's Haematology/Oncology Group Study

DNA methylation array profiling for classifying pediatric central nervous system (CNS) tumors is a valuable adjunct to histopathology. However, unbiased prospective and interlaboratory validation studies have been lacking. The AIM BRAIN diagnostic trial involving 11 pediatric cancer centers in Australia and New Zealand.

FeBRILe3: Safety Evaluation of Febrile Infant Guidelines Through Prospective Bayesian Monitoring

Despite evidence supporting earlier discharge of well-appearing febrile infants at low risk of serious bacterial infection (SBI), admissions for ≥48 hours remain common. Prospective safety monitoring may support broader guideline implementation.