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Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trialCDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.
Research
Characterising Insistence on Sameness and Circumscribed Interests: A Qualitative Study of Parent PerspectivesManifestations of insistence on sameness and circumscribed interests are complex, with individuals varying considerably, not only in the types of behaviours they express, but also in terms of a behaviour's frequency, intensity, trajectory, adaptive benefits, and impacts.
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Prevalence of tuberculosis infection among contacts of drug-resistant tuberculosis patients: A systematic review and meta-analysisContact investigations with drug-susceptible tuberculosis (DS-TB) patients have demonstrated a high prevalence of tuberculosis infection (TBI). However, the prevalence of TBI among individuals in close contact with drug-resistant tuberculosis (DR-TB) patients is poorly understood. This systematic review and meta-analysis aimed to determine the prevalence of TBI among household and non-household contacts of DR-TB patients.
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The ETO2 transcriptional cofactor maintains acute leukemia by driving a MYB/EP300-dependent stemness programTranscriptional cofactors of the ETO family are recurrent fusion partners in acute leukemia. We characterized the ETO2 regulome by integrating transcriptomic and chromatin binding analyses in human erythroleukemia xenografts and controlled ETO2 depletion models. We demonstrate that beyond its well-established repressive activity, ETO2 directly activates transcription of MYB, among other genes.
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Workforce training needs to address social and emotional wellbeing in home-based Aboriginal and Torres Strait Islander aged careTo explore the training needs of the home care workforce in supporting the social and emotional wellbeing of Aboriginal and Torres Strait Islander peoples receiving aged care services through the Home Care Package Program.
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Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western AustraliaMedications are commonly used during pregnancy to manage pre-existing conditions and conditions that arise during pregnancy. However, not all medications are safe to use in pregnancy. This study utilized privacy-preserving record linkage (PPRL) to examine medications dispensed under the national Pharmaceutical Benefits Scheme (PBS) to pregnant women in Western Australia (WA) overall and by medication safety category.
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An Expanded Conceptual Framework for Understanding Irritability in Childhood: The Role of Cognitive Control ProcessesChildren prone to irritability experience significant functional impairments and internalising and externalising problems. Contemporary models have sought to elucidate the underlying mechanisms in irritability, such as aberrant threat and reward biases to improve interventions.
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Respiratory Viral Testing Rate Patterns in Young Children Attending Tertiary Care Across Western Australia: A Population-Based Birth Cohort StudyBelaynew Christopher Peter Hannah Minda Huong Taye Blyth Richmond Moore Sarna Le MD, MPH, PhD MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
Research
Factors influencing public perceptions of child neglect: A mixed methods studyMore than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.