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Research

Advances in Exercise, Physical Activity, and Diabetes

We screened more than 750 potentially eligible titles on PubMed and other common search engines for manuscripts on “exercise and diabetes”

Research

Misgendering and experiences of stigma within health care settings for transgender individuals

Misgendering within the health care system can significantly affect the mental and physical health of transgender individuals

Research

Preclinical Evaluation of Carfilzomib for Infant KMT2A-Rearranged Acute Lymphoblastic Leukemia

Infants with KMT2A-rearranged B-cell precursor acute lymphoblastic leukemia (ALL) have poor outcomes. There is an urgent need to identify novel agents to improve survival. Proteasome inhibition has emerged as a promising therapeutic strategy for several hematological malignancies. The aim of this study was to determine the preclinical efficacy of the selective proteasome inhibitor carfilzomib, for infants with KMT2A-rearranged ALL.

Research

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Case Report: Neonatal Varicella Acquired From Maternal Zoster

The incidence of neonatal varicella has decreased dramatically since the introduction of the varicella vaccination. Although the varicella zoster virus is often associated with a mild infection, it may cause severe morbidity and mortality, particularly in the neonatal period and immunocompromised hosts. We report a case of neonatal varicella acquired from maternal zoster in a mother on biological immunosuppressive therapy.

Research

Narrowband UVB phototherapy reduces TNF production by B-cell subsets stimulated via TLR7 from individuals with early multiple sclerosis

At the end of a 60-day course of narrowband UVB phototherapy, administered to individuals with early multiple sclerosis, there were changes in the relative proportions of circulating B-cell subsets. This study investigated phototherapy-associated changes to cytokine responses of B cells when exposed to a TLR7 ligand.

Research

Planning and clinical role of acute medical home care services for COVID-19: consensus position statement by the Hospital-in-the-Home Society Australasia

During a pandemic when hospitals are stretched and patients need isolation, the role of hospital-in-the-home (HITH) providing acute medical care at home has never been more relevant. We aimed to define and address the challenges to acute home care services posed by the COVID-19 pandemic.

Research

Socioethnic disparities in severe maternal morbidity in Western Australia: a statewide retrospective cohort study

To assess the scale of ethnic inequalities in severe maternal morbidity (SMM) rates and quantify the contribution of maternal characteristics to these disparities. This is a retrospective cohort study. A whole-of-population linked administrative data from 2002 to 2015 in Western Australia.

Research

Options and realities for trans and gender diverse young people receiving care in Australia's mental health system: findings from Trans Pathways

Trans and gender diverse young people experience mental health difficulties self-harm and suicidality at markedly higher rates than the general population, yet they often feel isolated from mental health services. There is little qualitative research on the experiences of trans and gender diverse young people accessing mental health support in Australia.

Research

A collaborative approach towards prevention of otitis media in Aboriginal children

Otitis media is very common in Aboriginal children in Western Australia and chronic ear disease causes major problems in speech and language development and education. Up until recently, most programmes dealing with the problem of OM have focused on clinical interventions rather than prevention. The Enhanced Prevention Working Group was established as part of the WA Child Ear Health Strategy (2017–2021). The Group has worked collaboratively to develop a set of recommendations for prevention of OM in Aboriginal children.