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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Modelling vitamin D food fortification among Aboriginal and Torres Strait Islander peoples in Australia

Low vitamin D intake and prevalence of serum 25-hydroxyvitamin D concentration <50 nmol/L among Aboriginal and Torres Strait Islander peoples highlight a need for public health strategies to improve vitamin D status. Since few foods contain naturally occurring vitamin D, food fortification could be a suitable strategy. We aimed to model vitamin D food fortification scenarios among Aboriginal and Torres Strait Islander peoples.

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.

Abacavir inhibits but does not cause self-reactivity to HLA-B*57:01-restricted EBV specific T cell receptors

Pre-existing pathogen-specific memory T cell responses can contribute to multiple adverse outcomes including autoimmunity and drug hypersensitivity. How the specificity of the T cell receptor (TCR) is subverted or seconded in many of these diseases remains unclear. Here, we apply abacavir hypersensitivity (AHS) as a model to address this question because the disease is linked to memory T cell responses and the HLA risk allele, HLA-B*57:01, and the initiating insult, abacavir, are known.

Sex-specific associations between umbilical cord blood testosterone levels and language delay in early childhood

Preliminary evidence suggests that prenatal testosterone exposure may be associated with language delay. However, no study has examined a large sample of...

Early mental health morbidity and later smoking at 17 years of age

We examined the relationship between the onset and pattern of childhood mental health disorders and subsequent current smoking status at age 17 years.

Method of bacterial killing differentially affects the human innate immune response to Staphylococcus epidermidis

In vitro investigations of human innate immune responses to extracellular bacteria commonly utilise killed preparations in preference to live...

The associations between physical activity, screen time and weight from 6 to 14 yrs: The Raine Study

To examine the strength and direction of the relationship between physical activity level, screen use and BMI in a cohort at ages 6, 8, 10 and 14 yrs as part...