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Research

An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder

Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment

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Bronchopulmonary dysplasia: Rationale for a pathophysiological rather than treatment based approach to diagnosis

This review describes the evolution of bronchopulmonary dysplasia definitions, evaluates the benefits and limitations of each approach

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Responsiveness of the human airway in vitro during deep inspiration and tidal oscillation

In healthy individuals, deep inspiration produces bronchodilation and reduced airway responsiveness, which may be a response of the airway wall to mechanical...

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Elemental carbon exposure and lung function in schoolchildren from Mexico City

Though exposure to air pollution has a detrimental effect on respiratory health, few studies have examined the association between elemental carbon exposure...

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Molecular Epidemiology of Noninvasive and Invasive Group A Streptococcal Infections in Cape Town

There is low coverage of the multivalent M protein vaccine in our setting, emphasizing the need to reformulate the vaccine to improve coverage

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Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility

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Eighth annual conference of in VIVO planetary health: From challenges to opportunities

Here, we present the abstracts and proceedings of our 8th annual conference, held in Detroit, Michigan in May 2019, themed "From Challenges, to Opportunities"

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Season, terrestrial ultraviolet radiation, and markers of glucose metabolism in children living in Perth, Western Australia

Increased safe sun exposure in winter therefore represents a plausible means of reducing fasting blood sugar in children with obesity

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Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

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Immune-mediated ECM depletion improves tumour perfusion and payload delivery

We have devised a new approach to degrade tumour ECM, which improves uptake of circulating compounds

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Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

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DETECT Schools Study Protocol: A Prospective Observational Cohort Surveillance Study Investigating the Impact of COVID-19 in Western Australian Schools

Amidst the evolving COVID-19 pandemic, understanding the transmission dynamics of the SARS-CoV-2 virus is key to providing peace of mind for the community and informing policy-making decisions. While available data suggest that school-aged children are not significant spreaders of SARS-CoV-2, the possibility of transmission in schools remains an ongoing concern, especially among an aging teaching workforce. Even in low-prevalence settings, communities must balance the potential risk of transmission with the need for students' ongoing education.

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Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome

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Representativeness of child controls recruited by random digit dialling

Recruiting control subjects who are representative of the population from which the cases are drawn is a challenge in case-control studies

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Feasibility of a Consumer Centred Tobacco Management intervention in Community Mental Health Services in Australia

This study tested a new program for helping smokers with severe mental illness to reduce their tobacco use, together with determining the feasibility of such research in community mental health settings in Australia.

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Decreased fibronectin production significantly contributes to dysregulated repair of asthmatic epithelium

In human asthma, and experimental allergic airways disease in mice, antigen-presenting cells and CD4(+) effector cells at the airway mucosa orchestrate, and CD4

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The incidence of sore throat and group A streptococcal pharyngitis in children at high risk of developing acute rheumatic fever: A systematic review and meta-analysis

Group A streptococcal (GAS) pharyngitis has traditionally been considered the sole precursor of acute rheumatic fever (ARF). Evidence from Australia, however, suggests that GAS skin infections may contribute to the pathogenesis of ARF.

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A model of population dynamics with complex household structure and mobility: implications for transmission and control of communicable diseases

Households are known to be high-risk locations for the transmission of communicable diseases. Numerous modelling studies have demonstrated the important role of households in sustaining both communicable diseases outbreaks and endemic transmission, and as the focus for control efforts. However, these studies typically assume that households are associated with a single dwelling and have static membership.

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Effective adenovirus-mediated gene transfer into neural stem cells derived from human embryonic stem cells

Human embryonic stem cell-derived neural stem cells (hESC-NSCs) are an attractive cell type for studying