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Incidence of NUT carcinoma in Western Australia from 1989 to 2014: a review of pediatric and adolescent cases from Perth Children’s HospitalNUT 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.
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Perspectives of trans and gender diverse young people accessing primary care and gender-affirming medical services: Findings from Trans PathwaysIncreasing 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.
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Ethics and equity in rare disease research and healthcareRapid 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.
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Patterns of combustible and electronic cigarette use during pregnancy and associated pregnancy outcomesAlthough 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.
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Treatment for Childhood and Adolescent Dissociation: A Systematic ReviewDissociative symptoms are linked to experiences of trauma, often originating in childhood and adolescence. Dissociative disorders are associated with a high burden of illness and a poor quality of life. Despite evidence suggesting that early intervention can improve outcomes, little research exists on the treatment of dissociative disorders in childhood and adolescence.
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Cough in Children and Adults: Diagnosis, Assessment and Management (CICADA). Summary of an updated position statement on chronic cough in AustraliaCough is the most common symptom leading to medical consultation. Chronic cough results in significant health care costs, impairs quality of life, and may indicate the presence of a serious underlying condition. Here, we present a summary of an updated position statement on cough management in the clinical consultation.
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Incidence of Stroke in Indigenous Populations of Countries With a Very High Human Development Index A Systematic ReviewCardiovascular disease contributes significantly to disease burden among many Indigenous populations. However, data on stroke incidence in Indigenous populations are sparse. We aimed to investigate what is known of stroke incidence in Indigenous populations of countries with a very high Human Development Index locating the research in the broader context of Indigenous health.
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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNAAneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.
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Statistical modelling under differential privacy constraints: a case study in fine-scale geographical analysis with Australian Bureau of Statistics TableBuilder dataConsistent with the principles of differential privacy protection, the Australian Bureau of Statistics artificially perturbs all count data from the Australian Census prior to its release to researchers through the TableBuilder platform. This perturbation involves the addition of random noise to every non-zero cell count followed by the suppression of small values to zero.
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The moral domain in peer relationships: opportunities for interventions to prevent bullyingPrevious research has focused on identifying the association between moral dimension and bullying behavior, with an emphasis on better understanding the complex processes that children and adolescents trigger during decision-making in immoral situations. However, advances in research on morality and bullying have not been paralleled by the design of intervention programs that promote moral competence. The aim of this chapter is to analyze the moral dimension as a key intervention in the design of holistic models for preventing bullying and promoting defending.