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Research
Patient-derived xenografts and single-cell sequencing identifies three subtypes of tumor-reactive lymphocytes in uveal melanoma metastasesUveal melanoma is a rare melanoma originating in the eye's uvea, with 50% of patients experiencing metastasis predominantly in the liver. In contrast to cutaneous melanoma, there is only a limited effectiveness of combined immune checkpoint therapies, and half of patients with uveal melanoma metastases succumb to disease within 2 years.
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“Stop, pause and take a break”: a mixed methods study of the longer-term outcomes of digital emotional wellbeing training for perinatal womenMaternal psychological distress is related to poorer physical and mental health as well as child developmental problems. Interventions that optimise maternal mental health and wellbeing during the "first 1,000 days" of life should have wide-reaching benefits for the mother and her child.
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Feasibility of home-based urine collection in children under 5 years in the ORIGINS birth cohort study: mixed method protocol and sample completion resultsUrine is an attractive biospecimen for nutritional status and population health surveys. It is an excellent non-invasive alternative to blood for appropriate biomarkers in young children and is suitable for home-based collection, enabling representative collections across a population. However, the bulk of literature in this population is restricted to collection in primary care settings.
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Targeting intolerance of uncertainty in young children diagnosed with autism: A randomized controlled trial of a parent-mediated group interventionYoung children diagnosed with autism experience high rates of co-occurring anxiety, with uncertainty-related concerns commonly reported. This randomized controlled trial investigated an 8-week parent-mediated group anxiety intervention, “Coping with Uncertainty in Everyday Situations” (CUES-Junior©).
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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.
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Parents’ Disclosure of Their Child’s Health and Neurodevelopmental Conditions: A Systematic Review and Qualitative MetasynthesisParents of children with physical/mental health and/or neurodevelopmental conditions often need to make disclosure decisions for their child. Disclosure can bring benefits (e.g., support) but can also risk harm (e.g., stigma). This systematic review aimed to consolidate research regarding parents' disclosure experiences to better understand how to support parents during this process.
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Changing rules, recommendations, and risks: COVID-19 vaccination decisions and emotions during pregnancyAs COVID-19 vaccinations rolled out globally from late 2020, rules and recommendations regarding vaccine use in pregnancy shifted rapidly. Pre-registration COVID-19 vaccine trials excluded those who were pregnant. Initial Australian medical advice did not routinely recommend COVID-19 vaccines in pregnancy, due to limited safety data and little perceived risk of local transmission.
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Spatial co-distribution of tuberculosis prevalence and low BCG vaccination coverage in EthiopiaWhile bacille-calmette-guerin (BCG) vaccination is one of the recommended strategies for preventing tuberculosis, its coverage is low in several countries, including Ethiopia. This study investigated the spatial co-distribution and drivers of TB prevalence and low BCG coverage in Ethiopia.
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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.
Research
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