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Research

Risk factors and comorbidities for invasive pneumococcal disease in Western Australian Aboriginal and non-Aboriginal people

Australian Aboriginal people have among the highest rates of invasive pneumococcal disease (IPD) worldwide. This paper investigates clinical diagnosis, risk...

Research

No population bias to left-hemisphere language in 4-year-olds with language impairment

An apparent paradox in the field of neuropsychology is that people with atypical cerebral lateralization do not appear to suffer any cognitive disadvantage,...

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Assessing the effect of meningitis prevention and treatment.

In high-income countries serious bacterial infections such as meningitis are uncommon, but their severity has led to prompt adoption of vaccines for...

Research

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.

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Determinants of quality of life in Rett syndrome: New findings on associations with genotype

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

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Genetic association study of childhood aggression across raters, instruments, and age

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap.

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Protection against neonatal respiratory viral infection via maternal treatment during pregnancy with the benign immune training agent OM-85

Incomplete maturation of immune regulatory functions at birth is antecedent to the heightened risk for severe respiratory infections during infancy. Our forerunner animal model studies demonstrated that maternal treatment with the microbial-derived immune training agent OM-85 during pregnancy promotes accelerated postnatal maturation of mechanisms that regulate inflammatory processes in the offspring airways.

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Fidelity and coordination of mitochondrial protein synthesis in health and disease

The evolutionary acquisition of mitochondria has given rise to the diversity of eukaryotic life. Mitochondria have retained their ancestral α-proteobacterial traits through the maintenance of double membranes and their own circular genome. Their genome varies in size from very large in plants to the smallest in animals and their parasites. The mitochondrial genome encodes essential genes for protein synthesis and has to coordinate its expression with the nuclear genome from which it sources most of the proteins required for mitochondrial biogenesis and function.

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Clinical utilisation of the Infant Monitor of vocal Production (IMP) for early identification of communication impairment in young infants at-risk of cerebral palsy: a prospective cohort study

Aim: To report prospective longitudinal data of early vocaliszations of infants identified “at-risk” of cerebral palsy (CP) for early identification of communication impairment.  This case-control longitudinal prospective cohort study reports on the assessment of 36 infants.

Research

Plasma secretory phospholipase A2 as an early marker for late-onset sepsis in preterm infants—a pilot study

Preterm infants are particularly susceptible to bacterial late-onset sepsis (LOS). Diagnosis by blood culture and inflammatory markers have sub-optimal sensitivity and specificity and prolonged reporting times. There is an urgent need for more rapid, accurate adjunctive diagnostics in LOS to improve management and minimise antibiotic exposure.