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Research

Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkage

Respiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized

Research

Reference exome data for a Northern Brazilian population

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.

Research

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being

Research

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Research

Using record linkage to validate notification and laboratory data for a more accurate assessment of notifiable infectious diseases

Studies investigating pathogen-specific infectious disease would benefit from using multiple data sources.

Research

Using record linkage to examine testing patterns for respiratory viruses among children born in Western Australia

Using linked data, we describe changes in respiratory virus testing among children born in Western Australia in 1996-2012

Research

A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes

Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants

Research

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder

Research

Role of public and private funding in the rising caesarean section rate: A cohort study

Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the...

Research

Influenza vaccine effectiveness and uptake in children at risk of severe disease

Participation in the preschool influenza vaccination program remains low with parents unconvinced of the benefits and safety of influenza vaccine