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In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...

Research

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Research

Remote-living Aboriginal children in Australia contend with higher rates of skin infections than non-Indigenous children. This work was embedded within a stepped-wedge, cluster randomised controlled trial aiming to halve the rate of skin infections in remote Kimberley communities. It outlines and reflects upon the co-development of a health promotion resource in partnership with the East Kimberley community of Warmun, whilst understanding community perceptions of its impact.

Research

Phage therapy is a promising approach against multidrug-resistant infections, yet systemic administration can lead to incomplete cures. We investigated the distribution, immune responses, and efficacy of the therapeutic phage KPP10 delivered via intranasal or intraperitoneal routes in murine Pseudomonas aeruginosa lung infection models.

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Ion channel activity underlying biological processes that drive high-grade gliomas (HGG) is largely unknown. We aimed to determine the networking of ion channel genes and validate their expression within HGG patient tumors, to identify ion channel-targeting drugs that would inhibit tumor-promoting processes.

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Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.

Research

Dissociation is often distressing, yet how affected adolescents manage dissociation in their daily lives is not well understood. This study aimed to describe the strategies adolescents use to manage dissociative symptoms from the perspective of adolescents themselves, their parents, and their clinicians.

Research

Measures of autistic traits are only useful – for pre-diagnostic screening, exploring individual differences, and gaining personal insight – if they efficiently and accurately assess autism as currently conceptualised while maintaining psychometric validity across different demographic groups. We recruited 1322 autistic and 1279 non-autistic adults who varied in autism status (non-autistic, diagnosed autistic, self-identifying autistic) and gender (cisgender men, cisgender women, gender diverse) to assess the psychometric properties of the Comprehensive Autistic Trait Inventory, a recently developed measure of autistic traits that examines six trait domains using 42 self-report statements.

Research

Small airway and lung parenchymal abnormalities frequently occur following preterm birth but are commonly missed by spirometry. Static lung volumes, diffusing capacity of the lung for carbon monoxide (D LCO) and oscillometry provide a more precise characterisation of these conditions. We hypothesised that differences in these measures exist between individuals born preterm and at term and we aimed to systematically review the literature to identify and quantify these differences in lung function.