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Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.

Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 Diabetes

Continuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking. 

Are C-reactive protein and procalcitonin safe and useful for antimicrobial stewardship purposes in patients with COVID-19 - A scoping review

The primary objectives of this study were to assess the usefulness of C-reactive protein and procalcitonin in the diagnosis of bacterial co-infections in coronavirus disease 2019 (COVID-19) and if their incorporation in antimicrobial stewardship programs is safe and useful, stratified by severity of disease as level of care, intensive care unit (ICU) or non-ICU.

Contributions of digital technologies for resilience capacity in a type 1 diabetes transition clinic: A qualitative study

A type 1 diabetes (T1D) transition clinic in Sydney, Australia, provides age specific care for young adults (aged 16-25 years) and for adults (aged 21 years and above), and has reported improved clinical outcomes post transition to adult care over a 21-year period. This study investigated the contribution of digital technology to long-term resilient capacity of the clinic.

Alcohol pharmacotherapy dispensing trends in Australia between 2006 and 2023

This study aimed to investigate acamprosate and naltrexone dispensing patterns in Australia.

Use of high-resolution fluorescence in situ hybridization for fast and robust detection of SARS-CoV-2 RNAs

Early, rapid, and accurate diagnostic tests play critical roles not only in the identification/management of individuals infected by SARS-CoV-2, but also in fast and effective public health surveillance, containment, and response. Our aim has been to develop a fast and robust fluorescence in situ hybridization (FISH) detection method for detecting SARS-CoV-2 RNAs by using an HEK 293 T cell culture model. 

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

A growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. 

Diet culture on TikTok: a descriptive content analysis

To investigate how dieting is portrayed on TikTok and the potential implications for public health considering the effect of diet culture on eating disorders amongst young people.  

The use of tranexamic acid in paediatric adenotonsillectomy – A systematic review and meta-analysis

Tonsillectomy and adenoidectomy are two of the most commonly performed ENT procedures in children, with over 500,000 cases performed annually in the United States. Whilst generally considered a safe and well-tolerated operation, it is not without its risks and complications including pain, nausea, anorexia and most importantly bleeding and post-tonsillectomy haemorrhage.

Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemia

There are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.