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Research

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

Longitudinal effects of dog ownership, dog acquisition, and dog loss on children’s movement behaviours: findings from the PLAYCE cohort study

Regular physical activity is important for children's physical and mental health, yet many children do not achieve recommended amounts of physical activity. Dog ownership has been associated with increased physical activity in children, however, there have been no longitudinal studies examining this relationship.

Research

Off-season RSV epidemics in Australia after easing of COVID-19 restrictions

Human respiratory syncytial virus (RSV) is an important cause of acute respiratory infection with the most severe disease in the young and elderly. Non-pharmaceutical interventions and travel restrictions for controlling COVID-19 have impacted the circulation of most respiratory viruses including RSV globally, particularly in Australia, where during 2020 the normal winter epidemics were notably absent.

Research

Unusual 2020 respiratory syncytial virus bronchiolitis season in Western Australia: Not explained by weather

To describe and explore the relationship between weather and the unusual 2020 bronchiolitis season in Western Australia during the COVID-19 pandemic.

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Non-severe burn injury increases cancer incidence in mice and has long-term impacts on the activation and function of T cells

Recent evidence suggests that burn patients are at increased risk of hospital admission for infection, mental health conditions, cardiovascular disease and cancer for many years after discharge for the burn injury itself.

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Viral haemorrhagic fevers and malaria co-infections among febrile patients seeking health care in Tanzania

In recent years there have been reports of viral haemorrhagic fever (VHF) epidemics in sub-Saharan Africa where malaria is endemic. VHF and malaria have overlapping clinical presentations making differential diagnosis a challenge.

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Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trial

Primary ciliary dyskinesia (PCD) is a rare, progressive, inherited ciliopathic disorder, which is incurable and frequently complicated by the development of bronchiectasis. There are few randomised controlled trials (RCTs) involving children and adults with PCD and thus evidence of efficacy for interventions are usually extrapolated from people with cystic fibrosis.

Research

Infant feeding practices and childhood acute leukemia: Findings from the Childhood Cancer & Leukemia International Consortium

Increasing evidence suggests that breastfeeding may protect from childhood acute lymphoblastic leukemia and acute myeloid leukemia. However, most studies have limited their analyses to any breastfeeding, and only a few data have examined exclusive breastfeeding, or other exposures such as formula milk.

Research

Racism and Indigenous Adolescent Development: A Scoping Review

Previous studies on the impacts of racism on adolescent development have largely overlooked Indigenous youth. We conducted a scoping review of the empirical literature on racism against Indigenous adolescents to determine the nature and scope of this research and to establish associations with developmental outcomes.

Research

A review of Australian Government funding of parenting intervention research

Parenting is central to children's optimal development and accounts for a substantial proportion of the variance in child outcomes, including up to 40% of child mental health. Parenting is also one of the most modifiable, proximal, and direct factors for preventing and treating a range of children's problems and enhancing wellbeing.