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What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.

Verschlimmbesserung: Craniospinal Radiotherapy Is Essential in WNT Medulloblastoma Patients

Standard-risk WNT medulloblastoma patients have an excellent prognosis using the combination of standard dose craniospinal radiotherapy (CSI) followed by platinum and alkylator based chemotherapy. A recent pilot study that attempted to completely omit radiotherapy was terminated early as all patients relapsed rapidly. The study highlights that therapy is the most important prognostic factor, with CSI still required to cure even the most favorable subgroup of medulloblastoma patients. 

The influence of the COVID pandemic on the management of URTI in children

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Economic burden of multidrug-resistant tuberculosis on patients and households: a global systematic review and meta-analysis

Multidrug-resistant tuberculosis (MDR-TB) is a major health threat worldwide, causing a significant economic burden to patients and their families. Due to the longer duration of treatment and expensive second-line medicine, the economic burden of MDR-TB is assumed to be higher than drug-susceptible TB.

The effectiveness of community friendship groups on participant social and mental health: a meta-analysis

Social disconnectedness and isolation are risk factors for poor mental health. Community-based friendship group interventions have been designed to increase an individual's social capital and consequently their mental wellbeing. Structured and unstructured friendship groups reflect two distinct approaches to friendship group interventions.

A novel Fc-enhanced humanized monoclonal antibody targeting B7-H3 suppresses the growth of ESCC

Esophageal squamous cell carcinoma (ESCC) is a prevalent malignant tumor of the digestive tract with a low 5-year survival rate due to the lack of effective treatment methods. Although therapeutic monoclonal antibodies (mAbs) now play an important role in cancer therapy, effective targeted mAbs are still lacking for ESCC. 

The Effectiveness of Strategies to Improve User Engagement With Digital Health Interventions Targeting Nutrition, Physical Activity, and Overweight and Obesity: Systematic Review and Meta-Analysis

Digital health interventions (DHIs) are effective in improving poor nutrition, physical inactivity, overweight and obesity. There is evidence suggesting that the impact of DHIs may be enhanced by improving user engagement. However, little is known about the overall effectiveness of strategies on engagement with DHIs.

A Review of Cardiac Surgical Procedures and Their Outcomes for Paediatric Rheumatic Heart Disease in Western Australia

Surgical intervention is an important treatment modality for advanced rheumatic heart disease (RHD). This study aimed to describe patient characteristics and outcomes from cardiac surgery for RHD in patients referred to the only tertiary paediatric hospital in Western Australia. 

The Right Advice, from the Right Person, in the Right Way: Non-Engaged Consumer Families’ Preferences for Lifestyle Intervention Design Relating to Severe Obesity in Childhood

Family-based lifestyle interventions for children/adolescents with severe levels of obesity are numerous, but evidence indicates programs fail to elicit short- or longer-term weight loss outcomes. Families with lived experience can provide valuable insight as we strive to improve outcomes from programs. Our aim was to explore elements that families desired in a program designed to treat severe levels of obesity in young people.

Reproducible Bioinformatics Analysis Workflows for Detecting IGH Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia Patients

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection.