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Research

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

Early treatment with fluvoxamine, bromhexine, cyproheptadine, and niclosamide to prevent clinical deterioration in patients with symptomatic COVID-19: a randomized clinical trial

Repurposed drugs with host-directed antiviral and immunomodulatory properties have shown promise in the treatment of COVID-19, but few trials have studied combinations of these agents. The aim of this trial was to assess the effectiveness of affordable, widely available, repurposed drugs used in combination for treatment of COVID-19, which may be particularly relevant to low-resource countries. 

Research

A rapid review to inform the policy and practice for the implementation of chronic disease prevention and management programs for Aboriginal and Torres Strait Islander people in primary care

More than 35% of Aboriginal and Torres Strait Islander adults live with cardiovascular disease, diabetes, or chronic kidney disease. There is a pressing need for chronic disease prevention and management among Aboriginal and Torres Strait Islander people in Australia. Therefore, this review aimed to synthesise a decade of contemporary evidence to understand the barriers and enablers of chronic disease prevention and management for Aboriginal and Torres Strait Islander People with a view to developing policy and practice recommendations. 

Research

Excess Mortality Among People With Rheumatic Heart Disease in Australia

Jonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@

Research

Elevated leukotriene B4 and 8-isoprostane in exhaled breath condensate from preterm-born infants

Inflammation and oxidative stress play a key role in the development of bronchopulmonary dysplasia (BPD), possibly contributing to persistent respiratory morbidity after preterm birth. We aimed to assess if inflammatory markers were elevated in exhaled breath condensate (EBC) of infants born very prematurely (< 32 weeks gestation) at 12-16 corrected months of age, and if increased levels were associated with BPD diagnosis and respiratory morbidity.

Research

West Australian parents’ views on vaccinating their children against COVID-19: a qualitative study

Australian children and adolescents were among the last local cohorts offered COVID-19 vaccines. Despite promising initial uptake, coverage subsequently plateaued, requiring further efforts to improve access and build parents’ recognition of the importance of COVID-19 vaccination.

Research

Awake and Alert: Examining the Portrayal of Energy Drinks on TikTok

Energy drinks (EDs) are not recommended for minors' consumption due to a myriad of health risks, but marketing initiatives persist. This study explored the promotion of EDs on TikTok, a platform frequented by children and adolescents.

Research

Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapy

The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients.

Research

Prevalence of breakfast skipping among children and adolescents: a cross-sectional population level study

Interventions to promote breakfast consumption are a popular strategy to address early life inequalities. It is important to understand the epidemiology of children and adolescents who skip breakfast so that interventions and policy can be appropriately considered.

Research

The psychological impact of paediatric burn injuries: a systematic review

To review and synthesise qualitative literature regarding the psychological outcomes following paediatric burn injuries, and to determine if children and adolescents who experience a burn injury have elevated risk of psychopathology following the injury.