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Research

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.

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

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.

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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

Vaccine coverage in children born to migrant mothers in Australia: A population-based cohort study

Overall, infant immunisation coverage is currently >90% in Australia, but there are pockets of under-immunised children including children from migrant backgrounds.

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Impact of a revised postoperative care plan on pain and recovery trajectory following pediatric tonsillectomy

A previous cohort of adenotonsillectomy patients at our institution demonstrated moderate-severe post-tonsillectomy pain scores lasting a median (range) duration of 6 (0-23) days and postdischarge nausea and vomiting affecting 8% of children on day 1 following surgery. In this subsequent cohort, we evaluate the impact of changes to our discharge medication and parental education on post-tonsillectomy pain and recovery profile.

Research

Increased nasal Streptococcus pneumoniae presence in Western environment associated with allergic conditions in Chinese immigrants

Chinese immigrants living in Australia experience increased allergic conditions: asthma, eczema, hay fever and wheeze. Recently we reported diminished innate cytokine responses in long-term immigrants, potentially increasing their pathogenic viral load and microbial carriage. We hypothesise that a Western environment changes the nasal microbiome profile, and this altered profile may be associated with the development of allergic conditions. In this cross-sectional study, we aimed to examine the loading of viral and microbial respiratory pathogens in the upper airway.

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.

Research

COVID-19 Response and Lessons Learned on Dengue Control in Bhutan

Coronavirus disease 2019 (COVID-19) is an acute respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 initially was identified from a cluster of patients admitted with ‘pneumonia of unknown etiology’ in late December 2019 to hospitals in Wuhan, Hubei Province, China.

Research

Consensus guidelines for optimising antifungal drug delivery and monitoring to avoid toxicity and improve outcomes in patients with haematological malignancy and haemopoietic stem cell transplant recipients, 2021

Antifungal agents can have complex dosing and the potential for drug interaction, both of which can lead to subtherapeutic antifungal drug concentrations and poorer clinical outcomes for patients with haematological malignancy and haemopoietic stem cell transplant recipients. Antifungal agents can also be associated with significant toxicities when drug concentrations are too high.