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Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.
The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.
Lesbian, Gay, Bisexual, Transgender, Intersex, Queer, Asexual/Aromantic (LGBTIQA+) people and other individuals with diverse sexual orientation, sex and/or gender identity experience intimate partner violence (IPV) at higher rates than non-LGBTIQA+ people but often receive inconsistent culturally competent healthcare, which deters help-seeking.
Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.
Acute rheumatic fever is an immune-mediated condition triggered by Streptococcus pyogenes sore throat and possibly skin infection, with a substantial burden in resource-limited settings. Clinical decision rules (CDRs) are commonly used to guide antibiotic treatment of sore throat based on signs and symptoms, but their diagnostic accuracy varies by study and setting. This work aimed to assess the accuracy of multiple CDRs in Fiji to diagnose S. pyogenes sore throat.
Globally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession.
Monoclonal antibodies are revolutionizing the landscape of current cancer treatment, bringing hope to patients with incurable cancers. B7-H3 (CD276) is an attractive therapeutic target for antibody-based therapy due to its low or absent expression in normal tissues and high expression in various types of tumors, including prostate cancer, pancreatic cancer, and high-mortality esophageal squamous cell carcinoma (ESCC). In recent years, various B7-H3-targeting antibodies have been developed for cancer treatment, with a few making their way to clinical trials.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
Over 90% of US children with cancer are treated at Children's Oncology Group (COG) centers, which seek to maximize enrollment in therapeutic and biobanking studies. Rare cancers have demonstrated lower than expected COG enrollment. We evaluated trends in COG rare cancer enrollment compared to US incidence from Surveillance, Epidemiology, and End Results (SEER) registries, examining the impact of COG therapeutic trials and Project:EveryChild, a cancer biobank/registry.
Defining rurality matters in healthcare. Evidence supports the singularity of the rural experience and its detrimental impact on health outcomes and, specifically, on mental health. Yet, no internationally accepted definition of 'rural' exists.