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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".
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.
Despite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.
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.
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.
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.
Newly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).
Transcriptomic analyses from early human immunodeficiency virus (HIV) infection have the potential to reveal how HIV causes widespread and lasting damage to biological functions, especially in the immune system. Previous studies have been limited by difficulties in obtaining early specimens.
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.