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Research

Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy

The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.

Research

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...

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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

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Bone mineral content and density in Rett syndrome and their contributing factors

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...

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Variation over time in medical conditions and health service utilization of children with Down syndrome

Variation over time in medical conditions and health service utilization of children with Down syndrome.

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Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children;

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Unpacking the complex nature of the autism epidemic

This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.

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The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

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Maternal high fat diet compromises survival and modulates lung development of offspring, and impairs lung function of dams

While maternal high fat diet compromised litter survival, it also promoted somatic and lung growth (increased lung volume) in the offspring

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Siblings of children with disabilities: challenges and opportunities

Siblings of children with disabilities: challenges and opportunities

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What doctors should consider before prescribing e-liquids for e-cigarettes

Alexander Larcombe BScEnv (Hons) PhD Honorary Research Fellow Honorary Research Fellow Associate Professor Alexander Larcombe began work at The Kids

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

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Pulmonary microRNA profiles identify involvement of Creb1 and Sec14l3 in bronchial epithelial changes in allergic asthma

In this study, we aimed to use microRNAs-which are critical regulators of signaling cascades-to identify so far uncharacterized asthma pathogenesis pathways

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Inclusion of genital, sexual, and gender diversity in human reproductive teaching: impact on student experience and recommendations for tertiary educators

Western societal norms have long been constrained by binary and exclusionary perspectives on matters such as infertility, contraception, sexual health, sexuality, and gender. These viewpoints have shaped research and knowledge frameworks for decades and led to an inaccurate and incomplete reproductive biology curriculum. To combat these deficiencies in reproductive systems-related education, our teaching team undertook a gradual transformation of unit content from 2018 to 2023, aiming to better reflect real diversity in human reproductive biology.

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Prenatal Origins of Obstructive Airway Disease: Starting on the Wrong Trajectory?

From the results of well-performed population health studies, we now have excellent data demonstrating that deficits in adult lung function may be present early in life, possibly as a result of developmental disorders, incurring a lifelong risk of obstructive airway diseases such as asthma and chronic obstructive pulmonary disease. 

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Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway resistance, decreased diaphragm strength, and no change in alveolar structure

Mucopolysaccharidosis type IIIA (MPS IIIA) is characterized by neurological and skeletal pathologies caused by reduced activity of the lysosomal hydrolase, sulfamidase, and the subsequent primary accumulation of undegraded heparan sulfate (HS). Respiratory pathology is considered secondary in MPS IIIA and the mechanisms are not well understood. 

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House dust mite induced lung inflammation does not alter circulating vitamin D levels

We hypothesized that allergic inflammation decreases the level of circulating 25(OH)D and tested this using a mice model of house dust mite (HDM) induced...

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Computational fluid-particle dynamic and pharmacokinetic assessment of electronic cigarette aerosols for improved understanding of their potential to impact health

This project will use computational methods to assess the deposition of e-cigarette aerosols in the lungs, and the distribution of chemicals within e-cigarette aerosols throughout the body.

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Biodiesel Exhaust Toxicity with and without Diethylene Glycol Dimethyl Ether Fuel Additive in Primary Airway Epithelial Cells Grown at the Air-Liquid Interface

Biodiesel usage is increasing steadily worldwide as the push for renewable fuel sources increases. The increased oxygen content in biodiesel fuel is believed to cause decreased particulate matter (PM) and increased nitrous oxides within its exhaust.

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Fuel feedstock determines biodiesel exhaust toxicity in a human airway epithelial cell exposure model

Biodiesel is promoted as a sustainable replacement for commercial diesel. Biodiesel fuel and exhaust properties change depending on the base feedstock oil/fat used during creation. The aims of this study were, for the first time, to compare the exhaust exposure health impacts of a wide range of biodiesels made from different feedstocks and relate these effects with the corresponding exhaust characteristics.