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Research

Bereaved parent involvement in co-designed stillbirth research: Experiences of Project Engage

While benefits of involving consumers in research are well established, bereaved parents face unique challenges, and descriptions of their experiences with co-designed stillbirth research are lacking. The collective experience of ‘Project Engage’ involved co-designing resources to support bereaved parents’ involvement in research.

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The National Paediatric Applied Research Translation Initiative (N-PARTI): using implementation science to improve primary care for Australian children with asthma, type 1 diabetes

General practice-based care for Australian children is facing low levels of clinical guideline adherence particularly in three key areas: asthma, type 1 diabetes and antibiotic use. We offer an implementation science-informed position paper, providing a broad overview of how we aim to address this issue.

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Role of COL5A1 in lung squamous cell Carcinoma: Prognostic Implications and therapeutic potential

Lung squamous cell carcinoma (LUSC) is a significant health concern, characterized by a lack of specific therapies and limited treatment options for patients in advanced stages. This study aims to identify key molecules of prognostic importance in LUSC and provide an experimental foundation for their potential therapeutic applications.

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Parsing the heterogeneity of social motivation in autism

Social motivation is posited as a key factor in the expression of the autism phenotype. However, lack of precision in both conceptualization and measurement has impeded a thorough understanding of its diverse presentation and associated outcomes. This study addresses this gap by identifying subgroups of autism characterized by deficits in distinct facets of social motivation, relative to normative benchmarks.

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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.

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In their own words: advice from parents of children with cancer

Approximately 770 children are diagnosed with cancer in Australia every year. Research has explored their experiences and developed recommendations for improving support provided to families. These have included the provision of psychology services, improved communication between healthcare professionals and parents, and increased information for families. 

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Contextualising Experiences of Co-Occurring Mental Ill-Health and Substance Use Among Trans, Non-Binary, and Gender Diverse Young People: Implications for Tailored Harm Reduction Approaches

Though significant research highlights higher rates of mental ill-health and substance use among trans, non-binary and gender diverse (henceforth 'trans') young people, little research has considered patterns, contextual characteristics, and correlates of co-occurring experiences of mental ill-health and substance use among trans young people. 

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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.

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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". 

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Vision loss and diabetic retinopathy prevalence and risk among a cohort of Indigenous and non-Indigenous Australians with type 2 diabetes receiving renal haemodialysis treatment

Diabetic nephropathy, vision loss and diabetic retinopathy are frequent comorbidities among individuals with type 2 diabetes (T2D). The Retinopathy in People Currently On Renal Dialysis study sought to examine the epidemiology and risk of vision impairment and among a cohort of Indigenous and non-Indigenous Australians with T2D currently receiving haemodialysis for end-stage renal failure.