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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.

A Lifeline to Fill the Silence of Homelessness: Person-Centered Analysis of Digital Coping and Links to Mental and Physical Health

Individuals experiencing homelessness are among the most vulnerable population for mental and physical health disparities. Despite navigating numerous stressors on a day-to-day basis, they are vastly underrepresented within coping research. Using a person-centered approach, this study addresses ways in which technology is leveraged to manage ongoing stressors associated with the experience of homelessness.

Tapasin assembly surveillance by the RNF185/Membralin ubiquitin ligase complex regulates MHC-I surface expression

Immune surveillance by cytotoxic T cells eliminates tumor cells and cells infected by intracellular pathogens. This process relies on the presentation of antigenic peptides by Major Histocompatibility Complex class I (MHC-I) at the cell surface. The loading of these peptides onto MHC-I depends on the peptide loading complex (PLC) at the endoplasmic reticulum (ER).

The inequitable burden of infectious diseases among remote-living Aboriginal and Torres Strait Islander Australians: a product of history

Although Streptococcus pyogenes (Strep A) is the sixth-most common infectious disease globally, its transmission within the household remains an understudied driver of infection. We undertook a systematic review to better understand the transmission of Strep A among people within the home, while highlighting opportunities for prevention.

Skin health of Aboriginal children living in urban communities

Skin concerns are frequent among urban-living Aboriginal children, yet specialist dermatology consultations are limited with studies highlighting the need for improved cultural security. Through newly established paediatric dermatology clinics at two urban Aboriginal Community Controlled Health Organisations (ACCHOs), we aimed to describe clinic and patient data, including disease frequencies and associations, to inform dermatology service provision and advocacy. 

Effects of pregnancy and lactation prebiotics supplementation on infant allergic disease: A randomized controlled trial

Ingestion of prebiotics during pregnancy and lactation may have immunomodulatory benefits for the developing fetal and infant immune system and provide a potential dietary strategy to reduce the risk of allergic diseases. We sought to determine whether maternal supplementation with dietary prebiotics reduces the risk of allergic outcomes in infants with hereditary risk.

Comparing Skin and Serum Testing to Direct Challenge Outcomes in Children With beta-Lactam Allergies

There is a scarcity of prospective studies investigating the relative roles of skin prick and intradermal testing, serum specific IgE, and extended oral challenges in diagnosing children with reported β-lactam allergies.

Improving physical activity and screen time in Australian Outside School Hours Care: Study protocol

Children's physical activity and screen time behaviours impact their physical health and well-being. In Australia, less than half of children meet daily physical activity recommendations and only one-third meet daily screen time recommendations.

Characterization and individual-level prediction of cognitive state in the first year after ‘mild’ stroke

Mild stroke affects more than half the stroke population, yet there is limited evidence characterizing cognition over time in this population, especially with predictive approaches applicable at the individual-level. We aimed to identify patterns of recovery and the best combination of demographic, clinical, and lifestyle factors predicting individual-level cognitive state at 3- and 12-months after mild stroke.

Challenges in the case-based surveillance of infectious diseases

To effectively inform infectious disease control strategies, accurate knowledge of the pathogen's transmission dynamics is required. Since the timings of infections are rarely known, estimates of the infection incidence, which is crucial for understanding the transmission dynamics, often rely on measurements of other quantities amenable to surveillance.