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Research

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Research

Ecological-level factors associated with tuberculosis incidence and mortality: A systematic review and meta-analysis

Globally, tuberculosis (TB) is the leading infectious cause of morbidity and mortality, with the risk of infection affected by both individual and ecological-level factors. While systematic reviews on individual-level factors exist, there are currently limited studies examining ecological-level factors associated with TB incidence and mortality. This study was conducted to identify ecological factors associated with TB incidence and mortality. 

Research

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. 

Research

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.

Research

Advancing Impactful Research for Adolescent Health and Wellbeing: Key Principles and Required Technical Investments

Substantial progress in adolescent health research has been made over recent decades, but important knowledge gaps remain.

Research

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

Internet-based third-wave Cognitive Behavioral Therapy (CBT) for reducing stress in parents of children and adolescents with chronic conditions: Systematic review and meta-analysis protocol

Parents of children and adolescents with chronic conditions have an increased risk of stress-related mental health problems, and reduced quality of life. Third wave Cognitive Behavioral Therapy interventions have been shown to reduce stress in this parent population. Studies demonstrate that this efficacy endures when these therapies are delivered online.

Research

Notification of acute rheumatic fever and rheumatic heart disease in hospitalised people in the Midwest region of Western Australia, 2012–2022: a retrospective cohort study

Acute rheumatic fever and rheumatic heart disease are caused by untreated group A streptococcus infections. Their prevalence is much higher among First Nations people than other Australians. 

Research

Delayed airway epithelial repair is correlated with airway obstruction in young adults born very preterm

Nasal epithelial cells from young adults with a history of very preterm birth show delayed closure following scratch-wounding. Repair correlated with lung function, suggesting epithelial barrier integrity may play a role in preterm-associated lung disease.

Research

Replanting the Birthing Trees: A Call to Transform Intergenerational Trauma into Cycles of Healing and Nurturing

Aboriginal and Torres Strait Islander ways of knowing, being and doing have fostered physical, social, and emotional wellbeing for millenia, forming a foundation of strength and resilience. However, colonisation, systemic violence and discrimination—including the forced removal of Aboriginal and Torres Strait Islander children, which continues today—have disrupted this foundation, leading to compounding cycles of intergenerational and complex trauma.