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MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Research

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

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To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).

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This study described the rehabilitation services accessed by children with stroke following acute admission to two Australian paediatric tertiary hospitals prior to the implementation of clinical practice guidelines. It also evaluated quality-of-care indicators for inpatient rehabilitation within these two settings.

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Cardiovascular diseases (CVDs) are the leading cause of mortality and are among the foremost causes of disability globally. CVD burden has continued to increase in most countries since 1990, with trends driven by changing exposures to harmful risk factors, population growth, and population aging.

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Antimicrobial resistance (AMR) is a global healthcare emergency, directly causing 1.3 million deaths per year and predicted to increase dramatically over the coming decades. Understanding the molecular mechanisms underpinning antibiotic resistance is central to approaches for AMR surveillance and diagnosis in a clinical laboratory.

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Gram-negative bacterial infections remain a major cause of morbidity and mortality in children and neonates globally, compounded by the rise of antimicrobial resistance. Barriers to paediatric antibiotic licencing lead to reduced availability of potentially effective agents for treatment. For children and neonates in the Oceania region, specific challenges remain including a paucity of surveillance data on local rates of antimicrobial resistance, and lack of availability of newer, more costly agents.

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Influenza vaccines are important for reducing the burden of influenza, particularly for populations at risk of more severe infections. Obesity is associated with increased influenza severity and therefore individuals with obesity are often specifically recommended for annual influenza vaccination. Obesity is also associated with an altered inflammatory profile, which may influence vaccine responses. This systematic review aimed to evaluate the evidence for any association between obesity and influenza vaccine immunogenicity.

Research

Remote-living Aboriginal children in Australia contend with higher rates of skin infections than non-Indigenous children. This work was embedded within a stepped-wedge, cluster randomised controlled trial aiming to halve the rate of skin infections in remote Kimberley communities. It outlines and reflects upon the co-development of a health promotion resource in partnership with the East Kimberley community of Warmun, whilst understanding community perceptions of its impact.