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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.

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 Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@thekids.org.au Head,

The ORIGINS Project Biobank: A Collaborative Bio Resource for Investigating the Developmental Origins of Health and Disease

Early onset Non-Communicable Diseases (NCDs), including obesity, allergies, and mental ill-health in childhood, present a serious and increasing threat to lifelong health and longevity. The ORIGINS Project (ORIGINS) addresses the urgent need for multidisciplinary efforts to understand the detrimental multisystem impacts of modern environments using well-curated large-scale longitudinal biological sample collections.

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.

Are we missing opportunities to detect acute rheumatic fever and rheumatic heart disease in hospital care? A multijurisdictional cohort study

This study aimed to investigate potential missed diagnoses of acute rheumatic fever and rheumatic heart disease during hospital-based care among persons subsequently identified with these conditions.

Acceptability and Implementation Challenges of Benzathine Penicillin G Secondary Prophylaxis for Rheumatic Heart Disease in Ethiopia: A Qualitative Study

Monthly intramuscular injections of benzathine penicillin G (BPG) remain the cornerstone of secondary prophylaxis for acute rheumatic fever and rheumatic heart disease (RHD). The barriers to successful delivery of BPG may be patient- or service-delivery-dependent.

Trends in incident acute rheumatic fever or rheumatic heart disease in Indigenous youth in Western Australia: a retrospective cohort study

To determine age-specific and age-standardised incidence trends of acute rheumatic fever (ARF) or rheumatic heart disease (RHD) among Indigenous Western Australians aged less than 35 years of age.

Circulating epigenomic biomarkers correspond with kidney disease susceptibility in high-risk populations with type 2 diabetes mellitus

To investigate epigenomic indices of diabetic kidney disease (DKD) susceptibility among high-risk populations with type 2 diabetes mellitus. 

Data resource profile: the ORIGINS project databank: a collaborative data resource for investigating the developmental origins of health and disease

The ORIGINS Project (“ORIGINS”) is a longitudinal, population-level birth cohort with data and biosample collections that aim to facilitate research to reduce non-communicable diseases and encourage ‘a healthy start to life’. ORIGINS has gathered millions of datapoints and over 400,000 biosamples over 15 timepoints, antenatally through to five years of age, from mothers, non-birthing partners and the child, across four health and wellness domains.

Improving primary care for Aboriginal and Torres Strait Islander people with rheumatic heart disease: What can I do?

Acute rheumatic fever and rheumatic heart disease disproportionately affect Aboriginal and Torres Strait Islander people in Australia, with devastating impacts on morbidity, mortality and community wellbeing. Research suggests that general practitioners and primary care staff perceive insurmountable barriers to improving clinical outcomes, including the need for systemic change outside their scope of practice.