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Research

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. 

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Does genetic regulation of IgE begin in utero?

Elucidation of early life factors is critical to understand the development of allergic diseases, especially those manifesting in early life such as food allerg

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Narrowing the broader autism phenotype: A study using the Communication Checklist

This study investigated whether the Communication Checklist - Adult (CC-A) could identify subtypes of social and communication dysfunction in autism probands an

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The use of cross-jurisdictional population data to investigate health indicators of child maltreatment

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

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Replanting the Birthing Trees: A Call to Transform Intergenerational Trauma into Cycles of Healing and Nurturing

Aboriginal and Torres Strait Islander ways of knowing, being and doing have fostered physical, social, and emotional wellbeing for millenia, forming a foundation of strength and resilience. However, colonisation, systemic violence and discrimination—including the forced removal of Aboriginal and Torres Strait Islander children, which continues today—have disrupted this foundation, leading to compounding cycles of intergenerational and complex trauma.

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Acceptability and Implementation Challenges of Benzathine Penicillin G Secondary Prophylaxis for Rheumatic Heart Disease in Ethiopia: A Qualitative Study

Monthly intramuscular injections of benzathine penicillin G (BPG) remain the cornerstone of secondary prophylaxis for acute rheumatic fever and rheumatic heart disease (RHD). The barriers to successful delivery of BPG may be patient- or service-delivery-dependent.

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Prenatal alcohol exposure and risk of birth defects

The goal was to examine the associations between dose, pattern, and timing of prenatal alcohol exposure (PAE) and birth defects.

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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

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Antibody responses against influenza A decline with successive years of annual influenza vaccination

Influenza vaccine effectiveness and immunogenicity can be compromised with repeated vaccination. We assessed immunological markers in a cohort of healthcare workers (HCW) from six public hospitals around Australia during 2020-2021.

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Child and Family Characteristics Associated with Symptoms of Anxiety in Autistic Children: A Biobank Study

Autistic children have an increased likelihood of anxiety, but more research is needed on the characteristics that predict various types of anxiety in this population. 

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Inequalities in child healthy development: some challenges for effective implementation

Inequalities in child healthy development: some challenges for effective implementation

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Safety, tolerability and pharmacokinetics of subcutaneous meropenem as an alternative to intravenous administration

Subcutaneous delivery of antibiotics is a practical alternative to IV administration. Meropenem is commonly used to treat infections caused by resistant Gram-negative organisms.

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Study protocol for the evaluation of an Infant Simulator based program delivered in schools:

This paper presents the study protocol for a pragmatic randomised controlled trial to evaluate the impact of a school based program developed to prevent teenage

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Origins and developmental paths of medical conditions from mid-childhood to mid-adolescence in Australia: Early-life adverse conditions and their lasting effects

This study investigates various common medical conditions affecting Australian children aged 4–14 years and the impact of prenatal and early-life conditions on these health conditions using a large national data set with 15 years of follow-up.

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Expression of bronchodilator response using forced oscillation technique measurements: absolute versus relative

Expression of bronchodilator response using forced oscillation technique measurements: absolute versus relative

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Bereaved parent involvement in co-designed stillbirth research: Experiences of Project Engage

While benefits of involving consumers in research are well established, bereaved parents face unique challenges, and descriptions of their experiences with co-designed stillbirth research are lacking. The collective experience of ‘Project Engage’ involved co-designing resources to support bereaved parents’ involvement in research.

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How valid are the rates of Down syndrome internationally?

Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking.