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Research

The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.

Research

Stiffness Mediated-Mechanosensation of Airway Smooth Muscle Cells on Linear Stiffness Gradient Hydrogels

In obstructive airway diseases such as asthma and chronic obstructive pulmonary disease (COPD), the extracellular matrix (ECM) protein amount and composition of the airway smooth muscle (ASM) is often remodelled, likely altering tissue stiffness. The underlying mechanism of how human ASM cell (hASMC) mechanosenses the aberrant microenvironment is not well understood.

Research

What supports are people with intellectual disability living in group homes provided to access health care? A case study

People with intellectual disabilities living in group homes often have complex health needs, are high health service users and need support from their service provider to access health services. In Australia, little is known about the types and amounts of these supports.

Research

What matters for pregnant women with rheumatic heart disease - perspectives of health service providers: A qualitative study

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

Development of best practice guidelines for clinical and community service providers to prevent suicide in LGBTQA+ young people: A Delphi expert consensus study

The aim of this study was to develop best practice guidelines for preventing suicide and reducing suicidal thoughts and behaviours in LGBTQA+ young people (lesbian, gay, bisexual, trans, queer/questioning, asexual, and those of other diverse sexualities and genders) within clinical and community service settings in Australia.

Research

Antibiotics or watchful waiting for acute otitis media in urban Aboriginal and Torres Strait Islander children?

Chris Valerie Brennan-Jones Swift PhD Head, Ear and Hearing Health Aboriginal Co-Director, Djaalinj Waakinj Centre for Ear and Hearing Health;

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

Longitudinal effects of dog ownership, dog acquisition, and dog loss on children’s movement behaviours: findings from the PLAYCE cohort study

Regular physical activity is important for children's physical and mental health, yet many children do not achieve recommended amounts of physical activity. Dog ownership has been associated with increased physical activity in children, however, there have been no longitudinal studies examining this relationship.

Research

Jelly snakes to reduce early postoperative vomiting in children after adenotonsillectomy: The randomized controlled snakes trial

Despite the use of dual antiemetic agents, postoperative nausea and vomiting (PONV) occurs in an unacceptably large number of patients post-tonsillectomy. There has been increased interest in alternative and non-pharmacological treatments for PONV e.g., chewing gum. We investigated if chewing a large confectionary jelly snake had prophylactic antiemetic effects postoperatively in young children. 

Research

Prevalence of Eating Disorder Symptoms in Transgender and Gender Diverse Adolescents Presenting for Gender-Affirming Care

To describe the prevalence of eating disorder symptoms among adolescents seeking gender-affirming care.