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Research

NUT carcinoma (NC), previously known as NUT midline carcinoma, is a rare and very aggressive cancer that occurs in both children and adults. NC is largely chemoresistant, with an overall survival of less than 7 months. Because the carcinoma is not restricted to a particular organ, diagnosis is often a challenge. In the absence of a clearly determined incidence for NC, we sought to study the diagnosis of patients in a well-defined population.

Research

Increasing numbers of trans young people are seeking medical services worldwide, but there have been few qualitative investigations of the experiences of trans young people attempting to engage with these services to explore in-depth experiences of clinical interactions.

Research

Although pregnant smokers may perceive electronic cigarettes (e-cigarettes) as safe alternatives to smoking combustible cigarettes, few studies have evaluated perinatal e-cigarette use and its associated health effects. We analyzed data from the Pregnancy Risk Assessment Monitoring System (PRAMS, 2016-2018) for 16,022 women who recently gave birth and reported smoking combustible cigarettes prior to pregnancy.

Research

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Research

Occupational therapy research has not fully utilized available research methods when exploring occupational therapists' views on specific interventions and service provision nor when exploring consumer priorities and the impact of occupational therapy services. Q methodology, a quantitative method for the systematic assessment of qualitative data, is an approach that can be used to examine viewpoints related to occupational therapy.

Research

Impetigo, a bacterial infection caused by Streptococcus pyogenes and S. aureus of the superficial dermis affects up to 162 million children at any one time. Three out of every five school-children in Samoa have active or recently healed impetigo, far higher than the global median impetigo prevalence surpassing previous estimates for the Oceania region.

Research

We investigated whether a commonly used research assessment - the Autism Observation Scale for Infants (AOSI) - accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants.

Research

The functional role of milk for the developing neonate is an area of great interest, and a significant amount of research has been done. However, a lot of work remains to fully understand the complexities of milk, and the variations imposed through genetics. It has previously been shown that both secretor (Se) and Lewis blood type (Le) status impacts the human milk oligosaccharide (HMO) content of human milk. While some studies have compared the non-HMO milk metabolome of Se+ and Se- women, none have reported on the non-HMO milk metabolome of Se- and Le- mothers.

Research

Risk-based recommendations are common for pneumococcal vaccines but little is known about their uptake. In Australia, pneumococcal conjugate vaccine (PCV) was funded only for Aboriginal or Torres Strait Islander (Indigenous) children and those with underlying medical conditions in 2001, and then there were different booster dose recommendations depending on risk after the introduction of universal PCV vaccination in 2005.

Research

By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway.