Search
Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
Research
Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemiaThere 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.
Research
Exploring Sugary Drink Consumption and Perceptions among Primary-School-Aged Children and Parents in AustraliaSugar-sweetened beverages (SSBs) account for a significant proportion of sugar in the diet of children and are directly associated with obesity in this group. While there have been many studies on adolescent SSB consumption, few studies have examined the predictors of SSB consumption in primary-school-aged children. The aim of this study was to understand the degree to which a child's consumption across a range of beverages is influenced by their own attitudes and by their parents' attitudes and parents' consumption behaviours.
Research
Effect of a campaign with oral polio vaccine on general health: A cluster-randomised trial in rural Guinea-BissauObjectives: To investigate in a cluster-randomised trial whether a campaign with oral polio vaccine (C-OPV) reduced mortality and morbidity.
Research
Which reference equation should we use for interpreting spirometry values for First Nations Australians? A cross-sectional studyTo evaluate the suitability of the Global Lung Function Initiative (GLI)-2012 other/mixed and GLI-2022 global reference equations for evaluating the respiratory capacity of First Nations Australians.
Research
A scoping review of trans and gender diverse children and adolescents’ experiences of physical activity, sport, and exercise participationThis study investigated the potential of using SARS-CoV-2 viral Increasing young people's physical activity, along with their motivation and confidence to be active, is widely advocated for supporting desirable health outcomes. Trans and gender diverse (henceforth; trans) young people experience significant physical activity-related barriers compared to cisgender (i.e., an individual for whom gender identity and sex presumed at birth are in alignment) peers.
Research
Could late-latent syphilis be treated with a single subcutaneous infusion of long-acting penicillin?Syphilis is an important global health threat and little has changed in its treatment since the mid-20th century. For late-latent or syphilis infection of unknown duration, the standard treatment of multiple intramuscular injections of benzathine penicillin G (BPG) are associated with significant pain and distress to clients and caregivers, negatively impacting on treatment completion.
Research
Early treatment with fluvoxamine, bromhexine, cyproheptadine, and niclosamide to prevent clinical deterioration in patients with symptomatic COVID-19: a randomized clinical trialRepurposed 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 careMore 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
Patient positioning and its impact on perioperative outcomes in children: A narrative reviewPatient positioning interacts with a number of body systems and can impact clinically important perioperative outcomes. In this educational review, we present the available evidence on the impact that patient positioning can have in the pediatric perioperative setting. A literature search was conducted using search terms that focused on pediatric perioperative outcomes prioritized by contemporary research in this area.