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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".
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.
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.
Vincristine sulphate, a microtubule inhibitor, is used extensively in veterinary oncology for treating lymphoma. Neutropenia during multiagent protocols is a common reason for treatment delay and reduced dose intensity. This study evaluated toxicities associated with treating systemically well neutropenic lymphoma patients with vincristine.
The objective was to investigate the feasibility of prospectively validating multiple clinical prediction scores for pediatric appendicitis in an Australian pediatric emergency department.
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.
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.
To assess the prevalence, clinical features and treatment of otitis media (OM) among Aboriginal children in the Kimberley region of Western Australia, and to determine if a correlation exists between OM and protracted bacterial bronchitis.
Pulmonary atresia with intact ventricular septum is a rare congenital cardiac lesion with significant anatomical heterogeneity. Surgical planning of borderline cases remains challenging and is primarily based on echocardiography. The aim was to identify echocardiographic parameters that correlate with surgical outcome and to develop a discriminatory calculator.
Investigating the impact of early childhood ventilation tube insertion (VTI) on long-term language outcomes.