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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Prevalence of chronic respiratory diseases in Aboriginal children: A whole population study

The burden of bronchiectasis is disproportionately high in Aboriginal adults, with early mortality. Bronchiectasis precursors, that is, protracted bacterial bronchitis and chronic suppurative lung disease, often commence in early childhood.

Change in health outcomes for First Nations children with chronic wet cough: rationale and study protocol for a multi-centre implementation science study

In children, chronic wet cough may be a sign of underlying lung disease, including protracted bacterial bronchitis (PBB) and bronchiectasis. Chronic (> 4 weeks in duration) wet cough (without indicators pointing to alternative causes) that responds to antibiotic treatment is diagnostic of PBB. Timely recognition and management of PBB can prevent disease progression to irreversible bronchiectasis with lifelong consequences. However, detection and management require timely health-seeking by carers and effective management by clinicians.

Retinopathy of prematurity and placental histopathology findings: A retrospective cohort study

Retinopathy of prematurity (ROP) is a biphasic vaso-proliferative disease that has the potential to cause blindness. In addition to prematurity and hyperoxia, perinatal infection and inflammation have been reported to play a critical role in the pathogenesis of ROP. The aim of this study was to assess the association between placental inflammation and the severity of ROP.

Dimensional Assessment of Restricted and Repetitive Behaviors: Development and Preliminary Validation of a New Measure

This study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains.

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.

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

Dietary patterns and markers for the metabolic syndrome in Australian adolescents

Overweight and other risk factors for cardiovascular disease (CVD) as well as their clustering, are increasingly prevalent among adolescents.

Association of pre-pregnancy weight and birth defects

Association of pre-pregnancy weight, birth defects

The long-term effects of breastfeeding on child and adolescent mental health: A Pregnancy Cohort Study followed for 14 years

To determine whether there was an independent effect of breastfeeding on child and adolescent mental health