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Research

Tissue-resident memory T cells in the era of (Neo) adjuvant melanoma management

Tissue-resident memory T (TRM) cells have emerged as key players in the immune control of melanoma. These specialized cells are identified by expression of tissue retention markers such as CD69, CD103 and CD49a with downregulation of egress molecules such as Sphingosine-1-Phosphate Receptor-1 (S1PR1) and the lymphoid homing receptor, CD62L.

Research

Lifting the curtains of silence: Patient perceptions towards needs and responsibilities in contributing to the prevention of healthcare-associated infections and antimicrobial resistance

Beyond the use of policy and system-focused approaches, it has been established globally that patients can play a role in enhancing the health care landscape. However, efforts to meaningfully translate patient engagement strategies that promote participation by hospitalized patients in relevant infection prevention and antimicrobial stewardship activities have not yet been realized. This study mapped the key factors acting as barriers and facilitators of patient engagement using a theoretical framework to identify potential new approaches to promote engagement.

Research

Assessing alexithymia across negative and positive emotions: Psychometric properties of the Polish version of the Perth Alexithymia Questionnaire

The Perth Alexithymia Questionnaire (PAQ) is a 24-item self-report measure of alexithymia. Originally developed in English, it was designed to try to enable more comprehensive (i.e., facet-level and valence-specific) alexithymia assessments. This study aimed to introduce and validate a Polish version of the PAQ. Our sample were 1,008 people (69.44% females, 30.06% males and 0.50% non-binary) aged 18-78 (M = 29.69, SD = 14.15) from the general community.

Publications

Publications from 2016 dating back to 1993 of AussieRett researchers, showing the research work into Rett syndrome and related disorders.

Research

An Unusual Resurgence of Human Metapneumovirus in Western Australia Following the Reduction of Non-Pharmaceutical Interventions to Prevent SARS-CoV-2 Transmission

Non-pharmaceutical interventions (NPIs) to reduce SARS-CoV-2 transmission disrupted respiratory virus seasonality. We examined the unusual return of human metapneumovirus (hMPV) in Western Australia following a period of absence in 2020.

Research

Psychosocial Interventions and Support Groups for Siblings of Individuals with Neurodevelopmental Conditions: A Mixed Methods Systematic Review of Sibling Self-reported Mental Health and Wellbeing Outcomes

Siblings of persons with neurodevelopmental conditions (NDCs) have increased risk of poorer psychosocial functioning. This systematic review evaluated quantitative and qualitative evidence on sibling mental health and wellbeing outcomes following psychosocial interventions and the risk and protective factors associated with post-intervention outcomes.

Using a large international sample to investigate epilepsy in Rett syndrome

Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.

Seizures in Rett syndrome: an overview from a one-year calendar study

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.

Research

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. 

Research

Interorganelle phospholipid communication, a house not so divided

The presence of membrane-bound organelles with specific functions is one of the main hallmarks of eukaryotic cells. Organelle membranes are composed of specific lipids that govern their function and interorganelle communication. Discoveries in cell biology using imaging and omic technologies have revealed the mechanisms that drive membrane remodeling, organelle contact sites, and metabolite exchange.