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Rare disease education in Europe and beyond: time to act

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.

Human Milk Sodium and Potassium as Markers of Mastitis in Mothers of Preterm Infants

This prospective longitudinal study examined changes in milk sodium concentration (Na) and sodium:potassium ratio (Na:K), microbiological culture, milk production, and breast health in relation to mastitis after preterm birth.

Human Genetic Research in Wallacea and Sahul: Recent Findings and Future Prospects

Genomic sequence data from worldwide human populations have provided a range of novel insights into our shared ancestry and the historical migrations that have shaped our global genetic diversity.

The AuTOMATIC trial: a study protocol for a multi-arm Bayesian adaptive randomised controlled trial of text messaging to improve childhood immunisation coverage

While most Australian children are vaccinated, delays in vaccination can put them at risk from preventable infections. Widespread mobile phone ownership in Australia could allow automated short message service (SMS) reminders to be used as a low-cost strategy to effectively 'nudge' parents towards vaccinating their children on time.

Fathers’ Experiences of Childhood Cancer: A Phenomenological Qualitative Study

Research has shown differences in how fathers and mothers respond to a child's cancer diagnosis. Previous studies have highlighted that sociocultural norm shape fathers' experiences of their child's cancer diagnosis. Our phenomenological qualitative study aimed to examine the lived experiences of fathers whose children have been diagnosed with cancer and explore the impact of sociocultural gender roles.

Pre-Clinical Evaluation of the Hypomethylating Agent Decitabine for the Treatment of T-Cell Lymphoblastic Lymphoma

T-cell lymphoblastic lymphoma (T-LBL) is a rare and aggressive lymphatic cancer, often diagnosed at a young age. Patients are treated with intensive chemotherapy, potentially followed by a hematopoietic stem cell transplantation. Although prognosis of T-LBL has improved with intensified treatment protocols, they are associated with side effects and 10-20% of patients still die from relapsed or refractory disease. Given this, the search toward less toxic anti-lymphoma therapies is ongoing.

Implementing a combined individual placement and support and vocational peer work program in integrated youth mental health settings

To describe the implementation and outcomes of a combined individual placement and support (IPS) and vocational peer work program for young people with mental ill-health.

A modelling approach to estimate the transmissibility of SARS-CoV 2 during periods of high, low, and zero case incidence

Against a backdrop ofwidespread global transmission, a number of countries have successfully brought large outbreaks of COVID-19 under control and maintained near-elimination status. A key element of epidemic response is the tracking of disease transmissibility in near real-time. During major out-breaks, the effective reproduction number can be estimated froma time-series of case, hospitalisation or death counts. In low or zero incidence settings, knowing the potential for the virus to spread is a response priority.

ADR3, a next generation i-body to human RANKL, inhibits osteoclast formation and bone resorption

Osteoporosis is a chronic skeletal condition characterized by low bone mass and deteriorated microarchitecture of bone tissue and puts tens of millions of people at high risk of fractures. New therapeutic agents like i-bodies, a class of next-generation single-domain antibodies, are needed to overcome some limitations of conventional treatments.

Airway and parenchyma transcriptomics in a house dust mite model of experimental asthma

Lung transcriptomics studies in asthma have provided valuable information in the whole lung context, however, deciphering the individual contributions of the airway and parenchyma in disease pathogenesis may expedite the development of novel targeted treatment strategies. In this study, we performed transcriptomics on the airway and parenchyma using a house dust mite (HDM)-induced model of experimental asthma that replicates key features of the human disease.