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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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#Parentingtips: A Descriptive Study of Information for Parents on TikTokParents and caregivers often turn to the internet for information about their child's health and development. Research investigating content related to parenting on the world's most popular social media platform, TikTok, has not been conducted.
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What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual DisabilityAppropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.
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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.
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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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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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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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Associations between School Readiness and Student Wellbeing: A Six-Year Follow Up StudyIt is well established that children’s school readiness is associated with their later academic achievement, but less is known about whether school readiness is also associated with other measures of school success, such as students’ social and emotional wellbeing. While some previous research has shown a link between early social and emotional development and student wellbeing, results are mixed and the strength of these relationships vary depending on whether data is based on child, teachers or parents ratings and which specific student wellbeing outcomes are measured.
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Severe adverse events following benzathine penicillin G injection for rheumatic heart disease prophylaxis: cardiac compromise more likely than anaphylaxisThese results indicate that anaphylaxis is not a major cause of adverse reactions to benzathine penicillin G