Search
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.
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.
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
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.
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research
This article documents the establishment of community laundries in rural/remote Aboriginal and Torres Strait Islander communities between 2000-2024, with the aim to support synergistic planning, implementation and evaluation.
The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood.
Information on factors contributing to quality of life (QOL) informs meaningful patient-centred care. We evaluated factors influencing QOL in individuals with developmental and epileptic encephalopathy (DEE) and other severe neurodevelopmental encephalopathy conditions using hypothesis-free regression tree analysis.