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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. 

Developmental queer and trans actualizations: A clear pathway to promoting health and well-being for sexually and gender diverse youth

Minority stress models and trauma-focused approaches have predominated our understanding and responses to health disparities among sexually and gender diverse (SGD) young people for more than 30 years. While the impacts and root causes of adversities are undoubtedly critical for promoting SGD health and well-being, it is important to highlight strengths-based narratives of the lives of SGD youth.

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA

The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Physical activity behaviors in trans and gender diverse adults: a scoping review

There is currently limited data regarding the physical activity behaviors of trans and gender diverse people (including binary and non-binary identities; henceforth trans). The aim of this review was to synthesize the existing literature in this area, with a focus on physical activity behaviors as they relate to health (e.g. health benefits, risks of adverse health outcomes). 

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.

Ending tuberculosis: challenges and opportunities

Despite impacting mankind since ancient times, tuberculosis (TB) persists as the leading cause of death from an infectious disease. TB can remain latent and further research is required to understand activation risk and the risks vs. the benefits of treating latent infection. Drug resistance poses an escalating threat to treating active disease and achieving cure.

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.

Exploring Hope in Australian Justice Involved Youth with Fetal Alcohol Spectrum Disorder

Hope is well recognised as a positive protective factor for mental health, improved coping responses to adverse childhood events and better educational outcomes. Hope is composed of synergistic constituents – agency and pathway. A retrospective chart review was conducted of 53 justice-involved youths (10−17 years old) who underwent Fetal Alcohol Spectrum Disorder (FASD) diagnostic assessments with Patches in Western Australia between 2019 and 2020.

Transmission potential of Streptococcus pyogenes during a controlled human infection trial of pharyngitis

Controlled human infection (CHI) models can provide insights into transmission of pathogens such as Streptococcus pyogenes (Strep A). As part of the Controlled Human Infection with Penicillin for Streptococcus pyogenes (CHIPS) trial, we explored the potential for transmission among participants deliberately infected with the Strep A emm75 strain.

Streptococcus pyogenes pharyngitis elicits diverse antibody responses to key vaccine antigens influenced by the imprint of past infections

Knowledge gaps regarding human immunity to Streptococcus pyogenes have impeded vaccine development. To address these gaps and evaluate vaccine candidates, we established a human challenge model of S. pyogenes pharyngitis. Here, we analyse antibody responses in serum and saliva against 19 antigens to identify characteristics distinguishing 19 participants who developed pharyngitis and 6 who did not.