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Research
Acute Lymphoblastic Leukemia in Infants: A Distinctive, High-Risk Subtype of Childhood Acute Lymphoblastic LeukemiaAcute lymphoblastic leukemia (ALL) in infants younger than 1 year of age is an aggressive, high-risk subtype of childhood ALL. Infant ALL with KMT2A-r is characteristically poorly responsive to chemotherapy and hematopoietic stem cell transplantation. New strategies, such as molecularly targeted therapies and immunotherapies, are in development and show promise in preclinical models and early phase studies.
Research
An expanded phenotype centric benchmark of variant prioritisation toolsIdentifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.
Research
Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6qWithin PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification.
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Computerized cognitive behavioural therapy for gender minority adolescents: Analysis of the real-world implementation of SPARX in New ZealandSPARX is a form of computerized cognitive behavioural therapy in serious game format funded via the Ministry of Health to be freely available in New Zealand. At registration users identify themselves as male, female, transgender or intersex. We aimed to establish whether adolescent transgender users of SPARX, compared to adolescent male and female users, were more likely to have high mental health needs at baseline and were more likely to complete SPARX. We also sought to determine changes in transgender adolescents' depressive symptoms after using SPARX.
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Accuracy of Central Neuro-Imaging Review of DIPG Compared with Histopathology in the International DIPG RegistryDiffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential.
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School Readiness of Children Exposed to Family and Domestic ViolenceChildren have a universal right to live free from exposure to family and domestic violence (FDV). Children exposed to FDV can experience long-term effects on their physical and psychological health and their social competencies including social, emotional, and cognitive skills and behaviours that underpin successful social adaptation and academic achievement. The aim of this study was to investigate if children exposed to FDV were more likely to be vulnerable on school readiness measures compared to those children who were not exposed.
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Antifungal prescribing in neonates: Using national point prevalence survey data from AustraliaWe describe contemporary antifungal use in neonates, with point-prevalence survey data from the National Antimicrobial Prescribing Survey across Australian hospitals from 2014 to 2018.
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Characterization of invasive Group B Streptococcus isolates from Western Australian infants, 2004-2020Invasive Group B Streptococcus remains a leading cause of infant morbidity and mortality. Intrapartum antibiotic prophylaxis has been implemented in many countries with a reduction in early-onset disease, but an effective vaccine may further reduce the disease burden. Candidate vaccines targeting capsular polysaccharides and surface proteins are now in clinical trials.
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Investigating Parental Observations of Early Autism Development in Simplex and Multiplex FamiliesPast research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports.
Research
In their own words: advice from parents of children with cancerApproximately 770 children are diagnosed with cancer in Australia every year. Research has explored their experiences and developed recommendations for improving support provided to families. These have included the provision of psychology services, improved communication between healthcare professionals and parents, and increased information for families.