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Aneuploidies, 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.

Research

Consistent 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.

Research

Previous 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.

Research

The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.

Research

Whānau Pakari is a healthy lifestyle assessment and intervention programme for children and adolescents with obesity in Taranaki (Aotearoa/New Zealand), which, in this region, replaced the nationally funded Green Prescription Active Families (GRxAF) programme. 

Research

Copy number alterations (CNAs), resulting from the gain or loss of genetic material from as little as 50 base pairs or as big as entire chromosome(s), have been associated with many congenital diseases, de novo syndromes and cancer. It is established that CNAs disturb the dosage of genomic regions including enhancers/promoters, long non-coding RNA and gene(s) among others, ultimately leading to an altered balance of key cellular functions.

Research

Tubeless upper airway surgery in children is a complex procedure in which surgeons and anaesthetists share the same operating field. These procedures are often interrupted for rescue oxygen therapy. 

Research

At present, limited literature exists exploring patient preferences for prophylactic treatment of acute rheumatic fever and rheumatic heart disease. Given low treatment completion rates to this treatment in Australia, where the burden of disease predominantly affects Aboriginal and Torres Strait Islander people, an improved understanding of factors driving patient preference is required to improve outcomes.

Research

Pete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor

Research

Among genes present in all group A streptococci (GAS), those encoding M-fibril and T-pilus proteins display the highest levels of sequence diversity, giving rise to the two primary serological typing schemes historically used to define strain. A new genotyping scheme for the pilin adhesin and backbone genes is developed and, when combined with emm typing, provides an account of the global GAS strain population.