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Research

The specific role of chromatin modifying factors in the timely execution of transcriptional changes in gene expression to regulate organ size remains largely unknown. Here, we report that in Drosophila melanogaster depletion of the histone demethylase dLsd1 results in the reduction of wing size. dLsd1 depletion affects cell proliferation and causes an increase in DNA damage and cell death.

Research

To describe the timing and causes of post-neonatally acquired cerebral palsy (PNN-CP) and map the implementation of relevant preventive strategies against cause-specific temporal trends in prevalence.

Research

In an era of expanding indications for iatrogenic immunosuppression, invasive fungal disease (IFD) remains a significant challenge in immunocompromised children, with case fatality rates ranging from 10 to 70%. Understanding of current recommendations and recent evidence is essential to guide optimal IFD management.

Research

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Research

LGBTQA+ young people experience suicidal thoughts and behaviors at a much greater rate than their heterosexual and cisgender peers. This study explored firsthand accounts of the coping strategies employed by LGBTQA+ young people when experiencing suicidal thoughts and behaviors.

Research

Bacille Calmette-Guérin (BCG) vaccine has immunomodulatory effects that may provide protection against unrelated infectious diseases. We aimed to determine whether BCG vaccination protects adults against COVID-19. 

Research

Dietary patterns characterised by high intakes of vegetables may lower the risk of pre-eclampsia and premature birth in the general population. The effect of dietary patterns in women with type 1 diabetes, who have an increased risk of complications in pregnancy, is not known. 

Research

In Western Australia (WA), children aged 24 months living regionally or remotely (non-urban) have suboptimal vaccine uptake. As there has not yet been a systematic approach to understanding the facilitators and barriers to childhood vaccination in regional and remote WA, this study aimed to understand the views of key immunisation stakeholders regarding barriers and solutions.

Research

Due to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on pathology (i.e., what a tumor looks like under the microscope) to thousands of diseases based on molecular tumor profiles (i.e., what a tumor looks like when its altered genome is interrogated). Most cancers arise from alterations to the genome, including changes in the number or structure of chromosomes and variations in a single building block of the genetic code.

Research

CDKL5 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.