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Research

Increased nasal Streptococcus pneumoniae presence in Western environment associated with allergic conditions in Chinese immigrants

Chinese immigrants living in Australia experience increased allergic conditions: asthma, eczema, hay fever and wheeze. Recently we reported diminished innate cytokine responses in long-term immigrants, potentially increasing their pathogenic viral load and microbial carriage. We hypothesise that a Western environment changes the nasal microbiome profile, and this altered profile may be associated with the development of allergic conditions. In this cross-sectional study, we aimed to examine the loading of viral and microbial respiratory pathogens in the upper airway.

Research

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.

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Genetic association study of childhood aggression across raters, instruments, and age

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap.

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Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.

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Protection against neonatal respiratory viral infection via maternal treatment during pregnancy with the benign immune training agent OM-85

Incomplete maturation of immune regulatory functions at birth is antecedent to the heightened risk for severe respiratory infections during infancy. Our forerunner animal model studies demonstrated that maternal treatment with the microbial-derived immune training agent OM-85 during pregnancy promotes accelerated postnatal maturation of mechanisms that regulate inflammatory processes in the offspring airways.

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Prospective surveillance of primary healthcare presentations for scabies and bacterial skin infections in Fiji, 2018-2019

Scabies, impetigo, and other skin and soft tissue infections (SSTIs) are highly prevalent in many tropical, low-middle income settings, but information regarding their burden of disease is scarce. We conducted surveillance of presentations of scabies and SSTIs, including impetigo, abscesses, cellulitis, and seā‰ˆvere SSTI, to primary health facilities in Fiji.

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Disparities in severe neonatal morbidity and mortality between Aboriginal and non-Aboriginal births in Western Australia: a decomposition analysis

The health disadvantages faced by Australian Aboriginal peoples are evidenced in early life, although few studies have focused on the reasons for population-level inequalities in more severe adverse outcomes. This study aimed to examine the scale of disparity in severe neonatal morbidity (SNM) and mortality between Aboriginal and non-Aboriginal births and quantify the relative contributions of important maternal and infant factors.

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Relationship Between Social Motivation in Children With Autism Spectrum Disorder and Their Parents

Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study.

Research

Advanced glycation end products as predictors of renal function in youth with type 1 diabetes

To examine if skin autofluorescence differed in early adulthood between individuals with type 1 diabetes and age-matched controls and to ascertain if sAF aligned with risk for kidney disease.

Research

Co-occurring intellectual disability and autism: Associations with stress, coping, time use, and quality of life in caregivers

Having a child on the autism spectrum (AS) is known to impact caregiver quality of life (QoL), time use, and stress. A co-occurring diagnosis of intellectual disability (ID) is common among children on the autism spectrum, with ID itself impacting caregiver outcomes. This study sought to understand how co-occurring ID in children on the autism spectrum may influence caregiver-related outcomes. Secondary analysis of survey data from caregivers of 278 children on the autism spectrum with (n = 62) and without (n = 216) co-occurring ID was conducted, exploring impacts on caregiver QoL, stress, coping, and time-use.