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Research

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Research

Associations Between Developmental Risk Profiles, Mental Disorders, and Student Absences Among Primary and Secondary Students in Australia

This study assessed if the association between mental disorders and higher student absences varies across different profiles of risk factors, and estimated the proportion of student absences associated with mental disorders. Data included responses from a nationally representative Australian survey of child and adolescent mental health.

Research

The association between preschooler physical activity duration and intensity and social emotional development: Findings from the PLAYCE study

Social emotional development is imperative to young children's long-term psychological and physical health. Physical activity (PA) may be important for young children's social emotional development. The association between preschooler PA duration and intensity and social emotional development was investigated.

Research

Can the CHA2 DS2 -VA schema be used to decide on anticoagulant therapy in Aboriginal and other Australians with non-valvular atrial fibrillation?

The Australasian guidelines recommend use of the CHA2 DS2 -VA schema to stratify ischaemic stroke risk in patients with non-valvular atrial fibrillation (N-VAF) and determine risk thresholds for recommending oral anticoagulant (OAC) therapy. However, the CHA2 DS2 -VA score has not been validated in a representative Australian population cohort with N-VAF, including in Aboriginal people who are known to have a higher age-adjusted stroke risk than other Australians.

Research

Global economic costs due to vivax malaria and the potential impact of its radical cure: A modelling study

An estimated 14 million cases of Plasmodium vivax malaria were reported from Asia, Central and South America, and the Horn of Africa. The clinical burden of vivax malaria is largely driven by its ability to form dormant liver stages (hypnozoites) that can reactivate to cause recurrent episodes of malaria. Elimination of both the blood and liver stages of the parasites ("radical cure") is required to achieve a sustained clinical response and prevent ongoing transmission of the parasite.

Research

Semi-field evaluation of the exposure-free mosquito electrocuting trap and BG-Sentinel trap as an alternative to the human landing catch for measuring the efficacy of transfluthrin emanators against Aedes aegypti

The human landing catch (HLC) measures human exposure to mosquito bites and evaluates the efficacy of vector control tools. However, it may expose volunteers to potentially infected mosquitoes. The mosquito electrocuting trap (MET) and BG-Sentinel traps (BGS) represent alternative, exposure-free methods for sampling host-seeking mosquitoes. This study investigates whether these methods can be effectively used as alternatives to HLC for measuring the efficacy of transfluthrin emanator against Aedes aegypti.

Research

The role of governance in Indigenous medical education research

This article considers the role of governance in Indigenous medical education research through the lens of an Australian Aboriginal research project titled Healing Conversations. The Healing Conversations project is developing and testing a targeted educational framework for improved clinical communication between healthcare practitioners and Australian Aboriginal peoples in regional and urban locations. It is proposed that an effective governance approach can support Indigenous and non-Indigenous stakeholders to work together in decision-making structures to enable outcomes that promote and prioritise Indigenous worldviews and values in medical education research.

Research

Can positive mindsets be protective against stress and isolation experienced during the covid-19 pandemic? A mixed methods approach to understanding emotional health and wellbeing needs of perinatal women

The aim of this study was to explore the relationship between emotional health and wellbeing and support needs of perinatal women during the COVID-19 pandemic, and to understand their experiences and need for support. This is a potentially vulnerable group and a critical developmental phase for women and infants.

Research

Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study

There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.

Research

Case Report: Neonatal Varicella Acquired From Maternal Zoster

The incidence of neonatal varicella has decreased dramatically since the introduction of the varicella vaccination. Although the varicella zoster virus is often associated with a mild infection, it may cause severe morbidity and mortality, particularly in the neonatal period and immunocompromised hosts. We report a case of neonatal varicella acquired from maternal zoster in a mother on biological immunosuppressive therapy.