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Research

Cough in Children and Adults: Diagnosis, Assessment and Management (CICADA). Summary of an updated position statement on chronic cough in Australia

Cough 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. 

Research

Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapy

Onco-fetal reprogramming of the tumor ecosystem induces fetal developmental signatures in the tumor microenvironment, leading to immunosuppressive features. Here, we employed single-cell RNA sequencing, spatial transcriptomics and bulk RNA sequencing to delineate specific cell subsets involved in hepatocellular carcinoma  relapse and response to immunotherapy. 

Research

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

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.

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Statistical modelling under differential privacy constraints: a case study in fine-scale geographical analysis with Australian Bureau of Statistics TableBuilder data

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

The moral domain in peer relationships: opportunities for interventions to prevent bullying

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

Participant and caregiver perspectives on health feedback from a healthy lifestyle check

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.

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An evaluation of GPT models for phenotype concept recognition

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Research

Erdosteine in children and adults with bronchiectasis (BETTER trial): study protocol for a multicentre, double-blind, randomised controlled trial

Bronchiectasis is a worldwide chronic lung disorder where exacerbations are common. It affects people of all ages, but especially Indigenous populations in high-income nations. Despite being a major contributor to chronic lung disease, there are no licensed therapies for bronchiectasis and there remain relatively few randomised controlled trials (RCTs) conducted in children and adults.

Research

Patient preferences for prophylactic regimens requiring regular injections in children and adolescents: A systematic review and thematic analysis

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

Recombinational exchange of M-fibril and T-pilus genes generates extensive cell surface diversity in the global group A Streptococcus population

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.