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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Bullying and psychosocial adjustment among children with and without asthmaChildren with asthma face serious mental health risk, but the pathways remain unclear. This study aimed to examine bullying victimisation and perpetration in children with asthma and a comparison sample without a chronic health condition, and the role of bullying in moderating psychosocial adjustment outcomes for those with asthma. A sample of children with and without asthma, and their parents, were recruited from hospital clinics.
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Systems pharmacogenomics identifies novel targets and clinically actionable therapeutics for medulloblastomaMedulloblastoma is the most common malignant paediatric brain tumour and a leading cause of cancer-related mortality and morbidity. Existing treatment protocols are aggressive in nature resulting in significant neurological, intellectual and physical disabilities for the children undergoing treatment. Thus, there is an urgent need for improved, targeted therapies that minimize these harmful side effects.
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Off-season RSV epidemics in Australia after easing of COVID-19 restrictionsHuman respiratory syncytial virus (RSV) is an important cause of acute respiratory infection with the most severe disease in the young and elderly. Non-pharmaceutical interventions and travel restrictions for controlling COVID-19 have impacted the circulation of most respiratory viruses including RSV globally, particularly in Australia, where during 2020 the normal winter epidemics were notably absent.
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Clindamycin adjunctive therapy for severe Staphylococcus aureus treatment evaluation (CASSETTE)-an open-labelled pilot randomized controlled trialCombination antibiotic therapy with an antitoxin agent, such as clindamycin, is included in some guidelines for severe, toxin-mediated Staphylococcus aureus infections. The evidence to support this practice is currently limited to in vitro, animal and observational human case-series data, with no previous randomized controlled trials (RCTs).
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ASCOT ADAPT study of COVID-19 therapeutics in hospitalised patients: an international multicentre adaptive platform trialSARS-CoV-2 infection is associated with a significant risk of hospitalisation, death, and prolonged impact on quality of life. Evaluation of new treatment options and optimising therapeutic management of people hospitalised with SARS-CoV-2 infection remains essential, but rapid changes in pandemic conditions and potential therapies have limited the utility of traditional approaches to randomised controlled trials.
Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.
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Reflections and perceptions of chronic tinnitus during childhoodReflections and perceptions of chronic tinnitus during childhood
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Technical standards for respiratory oscillometryThe aim of the task force was to provide technical recommendations regarding oscillometry measurement
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Diffuse Intrinsic Pontine GliomaThis chapter summarizes recent advances in diffuse intrinsic pontine glioma and potential novel therapies