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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.
Thyroid hormones affect neurological development and function, but detailed studies of thyroid hormones and metabolites in autism are lacking. The objective was t characterize thyroid function and metabolism in autistic children.
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.
Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs is essential for improving children's health and developing effective support. In this study we aimed to (1) explore the health literacy skills of parents that enabled them to support the health needs of their child with intellectual disability and the factors influencing these skills, and (2) identify opportunities to support parent health literacy.
Mesothelioma is a cancer derived from mesothelial cells, most commonly arising from the pleura or the peritoneum. Immune checkpoint therapy (ICT) has shown survival benefit for pleural mesothelioma, but little is known about the response in peritoneal mesothelioma. Most preclinical mesothelioma models involve subcutaneous cancer cell implantation, which lacks the relevant tumour microenvironment of peritoneal mesothelioma and does not resemble the clinical presentation.
Rishi S. Kotecha MB ChB (Hons) MRCPCH FRACP PhD Co-Head, Leukaemia Translational Research rishi.kotecha@health.wa.gov.au Co-Head, Leukaemia
Human milk is a rich source of immunomodulatory factors that influence the development of the infant immune system, including susceptibility to allergic diseases. Among these components, milk antibodies have been extensively studied for their role in protecting against infections; however, their potential contribution to allergy prevention may be equally important. The mechanisms of protection include allergen exclusion, enhanced and targeted antigen presentation, immune modulation via shaping of the infant gut microbiome, and direct regulation of gut immune responses.
Hereditary pancreatitis causes severe early-onset pain and hospitalisation. In 15 Australian patients undergoing total pancreatectomy and islet auto transplantation (TPIAT), we observed a marked reduction in hospital admissions, inpatient days and emergency visits, complete analgesic cessation by 24 months and durable insulin independence in nearly half of the patients. These findings highlight TPIAT's potential to improve quality of life and reduce healthcare burden. Our programme aims to build evidence to support public funding and ensure equitable access to this procedure.
Antibiotic exposure in neonatal intensive care units (NICU) is high. This study describes antibiotic use in very preterm infants and examines the association between duration of exposure and outcomes in blood culture negative (CN) infants.