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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonTimo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au
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Systemic lupus erythematosus in Aboriginal and Torres Strait Islander peoples in Australia: addressing disparities and barriers to optimising patient careThe first inhabitants of Australia and the traditional owners of Australian lands are the Aboriginal and Torres Strait Islander peoples. Aboriginal and Torres Strait Islander peoples are two to four times more likely to have systemic lupus erythematosus (SLE) than the general Australian population.
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Neurodivergence, intersectionality, and eating disorders: a lived experience-led narrative reviewAutistic people and those with attention deficit hyperactivity disorder are at a high risk of developing an eating disorder. While there is limited evidence on the relationship between other forms of neurodivergence and eating disorders, research suggests associations between giftedness, intellectual disability, obsessive-compulsive disorder, psychosis, Tourette's syndrome, and disordered eating.
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Global change, climate change, and asthma in children: Direct and indirect effects - A WAO Pediatric Asthma Committee ReportThe twenty-first century has seen a fundamental shift in disease epidemiology with anthropogenic environmental change emerging as the likely dominant factor affecting the distribution and severity of current and future human disease. This is especially true of allergic diseases and asthma with their intimate relationship with the natural environment.
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Atopy-related immune profiles are subject to genetic influence as evaluated using school-aged twin pairsThe interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cytometry and in vitro cytokine responses were used to characterize immune profiles from 93 school-aged twin pairs. Using an established twin pair analytical strategy, the genetic and environmental influences on immunological traits were evaluated, along with their association with atopy. Our findings suggest strong genetic influence on several traits, particularly B cell abundance. In contrast, cytokine responses from in vitro stimulations appeared mainly shaped by environmental exposures.
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The parent empowerment scale: development and psychometric propertiesParents of trans and gender diverse (herein ‘trans’) children experience additional challenges in their parenting role relative to parents of cisgender children. Understanding and enhancing parents’ empowerment is a promising approach to support both parents and children. We aimed to develop an empowerment scale specific to parents of trans children, grounded in parents’ lived experiences.
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Developmental queer and trans actualizations: A clear pathway to promoting health and well-being for sexually and gender diverse youthMinority stress models and trauma-focused approaches have predominated our understanding and responses to health disparities among sexually and gender diverse (SGD) young people for more than 30 years. While the impacts and root causes of adversities are undoubtedly critical for promoting SGD health and well-being, it is important to highlight strengths-based narratives of the lives of SGD youth.
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Real world effectiveness of early ensitrelvir treatment in patients with SARS-CoV-2, a retrospective case seriesEnsitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.
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Corrigendum to “A Phase III, multicenter, randomized, double-blind, active comparator-controlled study to evaluate the safety, tolerability, and immunogenicity of V114 comparedPeter Richmond MBBS MRCP(UK) FRACP Head, Vaccine Trials Group Head, Vaccine Trials Group Professor Peter Richmond is Head of the Vaccine Trials Group
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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.