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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. 

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.

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.

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.

Wet Cough

A wet cough in a child for more than four weeks could indicate infection in the lungs. The wet cough is caused by mucus in the airway. The mucus becomes infected with bacteria and causes airway inflammation that can progress to permanent lung damage known as bronchiectasis.

Assisted Reproductive Technologies

Assisted reproductive technologies (ART) cover a range of methods used to help couples with fertility problems achieve pregnancy, including in-vitro fertilisation (IVF).

Fetal Alcohol Spectrum Disorder (FASD)

Fetal Alcohol Spectrum Disorder (FASD) is a lifelong condition characterised by severe neurodevelopmental impairment due to prenatal exposure to alcohol.

Measles

Measles is a highly contagious infectious disease that can cause severe, long-term complications in children.

New eczema storybook to promote healthy skin

In close partnership with Aboriginal Elders and community members in Western Australia's south-west, we created ‘Kaal Tackles Eczema’, a children’s book to help Aboriginal families manage eczema. Our research showed a high prevalence and need for culturally relevant resources. The book uses Noongar language and art to educate and reduce infections, and is available online and in schools.