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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Timo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence timo.lassmann@thekids.org.au

Compatibility of pentoxifylline injection with syringe and inline filters

Recent studies have shown that PTX is compatible with a wide range of intravenous medicines used in NICU settings2–4; however, the compatibility of PTX with inline intravenous filters or syringe filters used in aseptic compounding facilities has not previously been reported.

“I just don’t know enough”: Australian perspectives on community involvement in health and medical research

There is increasing global support from governments and other funding bodies for community involvement in research, alongside a scientific and moral imperative for responsible and ethical research practice. Ninety per cent of Australian patient-led organisations in rare diseases have clearly articulated research priorities, indicating a desire among people affected by disease to be involved in research that impacts their communities. 

School physical design and its relation to bullying and student well-being

The school environment profoundly influences children's development, behaviours, and attitudes. This chapter delves into the relationship between school design and architecture, and their impact on bullying, victimisation, inclusivity, and student well-being. Research underscores the significant impact of school design on student social dynamics, advocating for collaborative efforts among stakeholders to craft effective anti-bullying policies.

Coupling of response biomarkers between tumor and peripheral blood in patients undergoing chemoimmunotherapy

Platinum-based chemotherapy in combination with anti-PD-L1 antibodies has shown promising results in mesothelioma. However, the immunological mechanisms underlying its efficacy are not well understood and there are no predictive biomarkers to guide treatment decisions.

Spatial co-distribution of tuberculosis prevalence and low BCG vaccination coverage in Ethiopia

While bacille-calmette-guerin (BCG) vaccination is one of the recommended strategies for preventing tuberculosis, its coverage is low in several countries, including Ethiopia. This study investigated the spatial co-distribution and drivers of TB prevalence and low BCG coverage in Ethiopia.

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. 

Prevalence of dementia among Indigenous populations of countries with a very high Human Development Index: a systematic review

Dementia is a health priority for Indigenous peoples. Here, we reviewed studies on the prevalence of dementia or cognitive impairment among Indigenous populations from countries with a very high Human Development Index (≥0·8). Quality was assessed using the Joanna Briggs Institute risk-of-bias tool and CONSolIDated critERia for strengthening the reporting of health research involving Indigenous peoples (CONSIDER), with oversight provided by an Indigenous Advisory Board.

Virome assembly reveals draft genomes of native Pseudomonas phages isolated from a paediatric bronchoalveolar lavage sample

We present lung virome data recovered through shotgun metagenomics in bronchoalveolar lavage fluid from an infant with cystic fibrosis, who tested positive for Stenotrophomonas maltophilia infection. Using a bioinformatic pipeline for virus characterization in shotgun metagenomic data, we identified five viral contigs representing Pseudomonas phages classified as Caudoviricetes.

Mapping Drug-Resistant Tuberculosis Treatment Outcomes in Hunan Province, China

Drug-resistant tuberculosis (DR-TB) remains a major public health challenge in China, with varying treatment outcomes across different regions. Understanding the spatial distribution of DR-TB treatment outcomes is crucial for targeted interventions to improve treatment success in high-burden areas such as Hunan Province. This study aimed to map the spatial distribution of DR-TB treatment outcomes at a local level and identify sociodemographic and environmental factors associated with poor treatment outcomes in Hunan Province, China.