Reports and Findings
Research
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
Research
Cohort profile: The WAACHS Linked Data StudyDespite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.
Research
Rationale for use for monoclonal antibody and anti-cytokine therapy for multisystem inflammatory syndrome in children: A systematic reviewObjective: To review systematically the rationale for choice and use of monoclonal antibody and anti-cytokine therapy in multisystem inflammatory syndrome in children.
Research
Short-term outcomes in infants following general anesthesia with low-dose sevoflurane/dexmedetomidine/remifentanil versus standard dose sevoflurane (The TREX trial)The Trial Remifentanil DEXmedetomidine trial aimed to determine if, in children < 2 years old, low-dose sevoflurane/dexmedetomidine/remifentanil anesthesia is superior to standard dose sevoflurane anesthesia in terms of global cognitive function at 3 years of age.
Research
Notification of acute rheumatic fever and rheumatic heart disease in hospitalised people in the Midwest region of Western Australia, 2012–2022: a retrospective cohort studyAcute rheumatic fever and rheumatic heart disease are caused by untreated group A streptococcus infections. Their prevalence is much higher among First Nations people than other Australians.
Research
Relationships between social determinants of health and healthy body composition among Aboriginal and Torres Strait Islander youth in the Next Generation: Youth Well-being studyPete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor Pete Azzopardi leads an international program of research focusing on adolescent health and well-being
Research
Origins and developmental paths of medical conditions from mid-childhood to mid-adolescence in Australia: Early-life adverse conditions and their lasting effectsThis study investigates various common medical conditions affecting Australian children aged 4–14 years and the impact of prenatal and early-life conditions on these health conditions using a large national data set with 15 years of follow-up.
Research
Childhood leukaemia in Down's syndrome primed by blood-cell biasAn in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.
Research
Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemiaThere are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.
Research
Patient-related factors impact the implementation of inpatient antibiotic allergy delabelingThe clinical consequences of an antibiotic allergy label are detrimental, impacting health care delivery and patient outcomes. We assessed hospital inpatients with intent to offer free antibiotic allergy labeling assessment within a randomized controlled trial. We sought to determine the feasibility of establishing an adult antibiotic allergy delabeling service in a Western Australian tertiary public hospital.