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Research

OMIP 076: High-dimensional immunophenotyping of murine T-cell, B-cell, and antibody secreting cell subsets

There is now considerable evidence demonstrating that both prenatal and postnatal exposure to particular classes of microbial stimuli can provide beneficial signals during early life immune development, resulting in the protection against future inflammatory disease.

Research

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome.

Research

Burden and preference-based quality of life associated with bullying in children

The objectives of this study are to assess the association between childhood bullying and preference-based health-related quality of life in Australian school children and their parents and estimate quality-adjusted life years associated with bullying chronicity. Children aged 8-10 years completed the child health utilities, while parents completed the Australian quality of life.

Research

The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.

Research

Prevalence of electronic device use before bed among Australian children and adolescents: a cross-sectional population level study

To understand the prevalence of children and adolescents’ electronic device use (EDU) in the hour before bed and identify sociodemographic groups that are at increased risk of problematic use.

Research

Sex-Specific Environmental Impacts on Initiation and Progression of Multiple Sclerosis

The immunological mechanisms that contribute to multiple sclerosis (MS) differ between males and females. Females are 2-3 times more likely to develop MS compared to males, however the reason for this discrepancy is unknown. Once MS is established, there is a more inflammatory yet milder form of disease in females whereas males generally suffer from more severe disease and faster progression, neural degradation, and disability.

Research

Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.

Research

Changes in serum neurofilament light chain levels following narrowband ultraviolet B phototherapy in clinically isolated syndrome

To determine whether serum neurofilament light chain (sNfL) levels are suppressed in patients with the clinically isolated syndrome (CIS) following narrowband ultraviolet B phototherapy (UVB-PT).

Research

Someday we’ll look back on this, and it will all seem funny. The lung and ventilation special issue 2030 and beyond

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Research

They Told Me “This Isn’t a Hotel”: Young People’s Experiences and Perceptions of Care When Presenting to the Emergency Department with Suicide-Related Behaviour

In Australia, the number of young people presenting to the emergency department with mental health concerns, in particular, suicidal behaviour (defined here as suicidal ideation, thoughts, intent and attempts) is increasing.