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The United Nations convention on rare diseases—A framework for research prioritization

Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research

Global risk of selection and spread of Plasmodium falciparum histidine-rich protein 2 and 3 gene deletions

Since their first detection in 2010, Plasmodium falciparum malaria parasites lacking the P. falciparum histidine-rich protein 2 gene (pfhrp2) have been observed in 40 of 47 surveyed countries, as documented by the World Health Organization. These genetic deletions reduce detection by the most widely used rapid diagnostic tests, prompting three countries to switch to alternative diagnostics.

Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. 

A Scoping Review of Digital Interventions Targeting Anxiety in Young Children

Anxiety is a leading mental health concern in childhood. Whilst a range of therapeutic approaches effectively reduce anxiety in young children, several barriers impact their implementation into practice. Digital interventions could help overcome some of these challenges; however, whether these can effectively target anxiety for children with and without Neurodevelopmental Conditions is unknown.

Measuring delivery and impact in community-based health promotion initiatives: development and overview of the Healthway Evaluation Framework

Robust evaluation is critical for understanding and enhancing the impact of health promotion initiatives. However, many community-based organisations face challenges in planning and conducting evaluation due to limitations in knowledge, resources, and the applicability of existing evaluation frameworks. The Healthway Evaluation Framework, and its accompanying practical Measurement Toolkit, was designed to support evaluation planning, implementation, and reporting across diverse health promotion programs and settings.

Proteomics confirms immune stabilizing effects of narrowband UVB treatment in patients with clinically isolated syndrome and multiple sclerosis

Multiple sclerosis (MS) demonstrates a latitude gradient in prevalence and severity, implicating ultraviolet B (UVB) exposure and photoimmune mechanisms in disease risk and progression. While narrowband (NB)-UVB phototherapy has long stabilized inflammation in dermatology, its systemic immunomodulatory effects in MS remain incompletely defined.

Internalizing Symptoms in Men: The Role of Masculine Norms, Alexithymia, and Emotion Regulation

Masculine norms influence internalizing problems in men. The processes that explain this association are not yet comprehensively understood. However, there exists a compelling argument to highlight the role of emotional functioning in explaining how conformity to the traditional Western conceptualization of masculine norms confers risk for internalizing problems.

Aspiring athletes managing sport, education, social, and family life: A scoping review

This scoping review considers the experiences of aspiring high school-aged athletes as they navigate the complexities of managing sport, education, social, and family life. The review synthesises existing literature on the decisions, barriers, facilitators, and support systems that influence aspiring athletes' pathways.

Approaches that support Indigenous children and families in the transition to school: A systematic review

The early years are critical for lifelong wellbeing, with transition to formal school a key period for development. For Indigenous children, this transition provides opportunities to build on cultural strengths and belonging. However, many children face systemic barriers that impact their transition experiences, highlighting a need for culturally safe programs that support Indigenous families during this significant time.

Prevalence of youth type 2 diabetes in global Indigenous populations: a systematic review

We aimed to synthesise global prevalence estimates of type 2 diabetes among Indigenous youth aged under 25 years, and examine age- and gender-specific differences and secular trends.