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Research

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

The Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems

Research

Childhood Maltreatment and Early Developmental Vulnerabilities at Age 5 Years

This study examined associations between maltreatment and early developmental vulnerabilities in a population sample of 68,459 children

Research

Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic Response

The functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target

Research

Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian Infants

Complementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants. 

Research

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Research

Play Active physical activity policy intervention and implementation support in early childhood education and care: results from a pragmatic cluster randomised trial

Policy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy.

Research

Clinical Trials in the Brain Tumour Population: Challenges and Strategies for the Future

This review identifies challenges and barriers to successful development of drugs in neuro-oncology trials at the preclinical, clinical and translational stages that we believe has contributed to poor outcomes for patients over the last 30 years.

Research

Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network Analysis

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.

Research

Surgery for rheumatic heart disease in the Northern Territory, Australia, 1997-2016: what have we gained?

Between 1964 and 1996, the 10-year survival of patients having valve replacement surgery for rheumatic heart disease (RHD) in the Northern Territory, Australia, was 68%. As medical care has evolved since then, this study aimed to determine whether there has been a corresponding improvement in survival.

Research

Maternal diet modulates the infant microbiome and intestinal Flt3L necessary for dendritic cell development and immunity to respiratory infection

Poor maternal diet during pregnancy is a risk factor for severe lower respiratory infections in the offspring, but the underlying mechanisms remain elusive. Here, we demonstrate that in mice a maternal low-fiber diet led to enhanced LRI severity in infants because of delayed plasmacytoid dendritic cell recruitment and perturbation of regulatory T cell expansion in the lungs.