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Research

Fidelity and coordination of mitochondrial protein synthesis in health and disease

The evolutionary acquisition of mitochondria has given rise to the diversity of eukaryotic life. Mitochondria have retained their ancestral α-proteobacterial traits through the maintenance of double membranes and their own circular genome. Their genome varies in size from very large in plants to the smallest in animals and their parasites. The mitochondrial genome encodes essential genes for protein synthesis and has to coordinate its expression with the nuclear genome from which it sources most of the proteins required for mitochondrial biogenesis and function.

Research

Clinical utilisation of the Infant Monitor of vocal Production (IMP) for early identification of communication impairment in young infants at-risk of cerebral palsy: a prospective cohort study

Aim: To report prospective longitudinal data of early vocaliszations of infants identified “at-risk” of cerebral palsy (CP) for early identification of communication impairment.  This case-control longitudinal prospective cohort study reports on the assessment of 36 infants.

Research

Plasma secretory phospholipase A2 as an early marker for late-onset sepsis in preterm infants—a pilot study

Preterm infants are particularly susceptible to bacterial late-onset sepsis (LOS). Diagnosis by blood culture and inflammatory markers have sub-optimal sensitivity and specificity and prolonged reporting times. There is an urgent need for more rapid, accurate adjunctive diagnostics in LOS to improve management and minimise antibiotic exposure.

Research

Evaluation of an Australian neurological nurse-led model of postdischarge care

Neurological disorders are a leading cause of disease burden worldwide, placing a heavy demand on health systems. This study evaluated the impacts and cost savings of a community-based nursing service providing supported discharge for neurological patients deemed high-risk for unplanned emergency department presentations and/or hospital readmissions. It focused on adult patients with stroke, epilepsy, migraine/headache or functional neurological disorders discharged from a Western Australian tertiary hospital.

Research

Allergen shedding in human milk: Could it be key for immune system education and allergy prevention?

In addition to being a source of nutrients for the developing newborn, human milk contains thousands of bioactive compounds, which influence infant health in the short-term as exemplified by its major benefits on infectious disease prevention. Many of the human milk compounds also have the required characteristics to instruct immune development and guide long-term health.

Research

Cohort Profile: HABITAT-a longitudinal multilevel study of physical activity, sedentary behaviour and health and functioning in mid-to-late adulthood

The benefits of physical activity in reducing the risk of non-communicable diseases are well documented. Physical inactivity contributes to 6–10% of the burden of coronary heart disease, type 2 diabetes, and breast and colon cancers.

Research

A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes

Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.

Research

Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome

Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.

Research

Molecular diagnosis of scabies using a novel probe-based polymerase chain reaction assay targeting high-copy number repetitive sequences in the sarcoptes scabiei genome

The suboptimal sensitivity and specificity of available diagnostic methods for scabies hampers clinical management, trials of new therapies and epidemiologic studies. Additionally, parasitologic diagnosis by microscopic examination of skin scrapings requires sample collection with a sharp scalpel blade, causing discomfort to patients and difficulty in children. Polymerase chain reaction (PCR)-based diagnostic assays, combined with non-invasive sampling methods, represent an attractive approach.

Research

The impact of surgical cancellations on children, families, and the health system in an Australian paediatric tertiary referral hospital

Reasons for elective surgery cancelations and their impact vary from one institution to another. Cancelations have emotional and financial implications for patients and their families. Our service has a particularly broad and geographically diverse patient population; hence, we sought to examine these impacts in our service.