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Research

KMT2A-rearranged acute lymphoblastic leukaemia

KMT2A-rearranged acute lymphoblastic leukaemia (ALL) represents a high risk subtype of childhood ALL. Historical treatment strategies have comprised of intensification with conventional chemotherapy. However, outcomes have remained consistently poor compared to the advances that have been seen for other ALL subtypes, particularly for infants diagnosed before their first birthday

Research

Caregiver perspectives regarding the impact of feeding difficulties on mealtime participation for primary school-aged autistic children and their families

Although up to 89% of autistic children experience feeding difficulties, little is known about the impact of these difficulties on mealtime participation. The aim of this study was to explore the impact of feeding difficulties on the mealtime participation of autistic children and their families based on caregiver experiences.

Research

Echocardiographic predictors of surgical outcomes in pulmonary atresia with intact ventricular septum and development of a discriminatory calculator

Pulmonary atresia with intact ventricular septum is a rare congenital cardiac lesion with significant anatomical heterogeneity. Surgical planning of borderline cases remains challenging and is primarily based on echocardiography. The aim was to identify echocardiographic parameters that correlate with surgical outcome and to develop a discriminatory calculator.

Research

Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism

Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children.

Research

Consultation informs strategies for improving the use of functional evidence in variant classification

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

Research

Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?

The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.

Research

Combination of curcumin or chitosan with photodynamic therapy as an effective alternative therapy for overcoming wound infection associated with multidrug-resistant Acinetobacter baumannii

The increasing prevalence of multidrug-resistant Acinetobacter baumannii as an opportunistic pathogen in wound infections raises significant concerns due to its antibiotic resistance and biofilm-mediated antibiotic tolerance. This underscores the urgent need to explore an alternative approach to effectively managing wound infections caused by MDR A. baumannii.

Research

Extreme drought and sexual violence against adolescent girls and young women: A multi-country population-based study

Droughts have profound and far-reaching impacts on human health and well-being, but their influence on sexual violence among adolescent girls in low- and middle-income countries (LMICs) is underexamined.This study examines the association between drought and sexual violence against adolescent girls and young women globally, using cross-sectional, nationally representative data from the Violence Against Children and Youth Surveys (VACS) from 2013 and 2019.

Research

Local therapy with combination TLR agonists stimulates systemic anti-tumor immunity and sensitizes tumors to immune checkpoint blockade

W. Joost Ben Lizeth Rachael Tao Omar Lesterhuis Wylie Orozco Morales Zemek Wang Elaskalani BSc PhD BSc, MSc, PhD BSc (Hons), PhD PhD BSc, MSc, PhD

Research

Transcriptomic analysis of primary nasal epithelial cells reveals altered interferon signalling in preterm birth survivors at one year of age

Many survivors of preterm birth (<37 weeks gestation) have lifelong respiratory deficits, the drivers of which remain unknown. Influencers of pathophysiological outcomes are often detectable at the gene level and pinpointing these differences can help guide targeted research and interventions. This study provides the first transcriptomic analysis of primary nasal airway epithelial cells in survivors of preterm birth at approximately 1 year of age.