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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Psychomotor Vigilance Testing on Neonatal Transport: A Western Australian Experience

This study aimed to assess whether undertaking retrieval was associated with fatigue independent of sleep and circadian disruption. It also aimed to assess the feasibility of routinely measuring the psychomotor vigilance test on neonatal transport. Fatigue is associated with impaired clinician performance and safety.

Validation and Comparison of Pediatric Appendicitis Scores and Management Strategies (Project SPASMS): Protocol for a Prospective Multicenter Observational Study

Abdominal pain is a common reason for children to attend the Emergency Department (ED) with acute appendicitis being the most common surgical cause. Various clinical prediction scores (CPSs) have been developed to assist in determining the risk of appendicitis; however, CPSs have been inadequately validated in children and haphazardly adopted in Australia and New Zealand EDs.

A Small Device May Deliver King-Sized Solutions for Patients With an Exacerbation of Cystic Fibrosis

The aim is to examine whether using a portable spring-infusor device to deliver antibiotics compared with a standard infusion pump (SIP) translated to (i) improve health outcomes, (ii) reduce the length of stay (LoS), and (iii) reduce cost for treatment of exacerbations of cystic fibrosis.

Oral Health-Related Quality of Life of Western Australian Refugee Children With Childhood Caries

Dental caries remains the most common chronic childhood condition and in Australia persists as a leading cause of potentially preventable hospitalisation. Despite various public health initiatives and improvements in oral health among the wider community, significant disparities exist among refugee families due to the unique challenges they face.

Quantifying undetected tuberculosis in Ethiopia using a novel geospatial modelling approach

Tuberculosis (TB) is the leading infectious cause of death globally, with approximately three million cases remaining undetected, thereby contributing to community transmission. Understanding the spatial distribution of undetected TB in high-burden settings is critical for designing and implementing geographically targeted interventions for early detection and control.

Study of pediatric appendicitis scores and management strategies: A prospective observational feasibility study

The objective was to investigate the feasibility of prospectively validating multiple clinical prediction scores for pediatric appendicitis in an Australian pediatric emergency department. 

The increase in medical admissions with anorexia nervosa during the COVID-19 pandemic in Western Australia

A comparative study to describe the increase in medical admissions of children and adolescents with anorexia nervosa (AN) in Western Australia in 2019 (pre-pandemic) and 2020 (peri-pandemic).

Health service utilisation for acute respiratory infections in infants graduating from the neonatal intensive care unit: a population-based cohort study

Despite advances in neonatal intensive care, babies admitted to Neonatal Intensive Care Units (NICU) suffer from adverse outcomes. We aim to describe the longer-term respiratory infectious morbidity of infants discharged from NICU using state-wide population-based linked data in Western Australia.

Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network Analysis

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.