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Research

Early progressive encephalopathy in boys and MECP2 mutations

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

Research

NTNG1 mutations are a rare cause of Rett syndrome

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

Clinical Management of Staphylococcus aureus Bacteremia in Neonates, Children, and Adolescents

Staphylococcus aureus is a common cause of community and health care-associated bacteremia, with authors of recent studies estimating the incidence of S aureus bacteremia (SAB) in high-income countries between 8 and 26 per 100 000 children per year. Despite this, <300 children worldwide have ever been randomly assigned into clinical trials to assess the efficacy of treatment of SAB.

Research

Reference exome data for Australian Aboriginal populations to support health-based research

Our data set provides a useful reference point for genomic studies on Aboriginal Australians

Research

Analytical bias in the measurement of plasma 25-hydroxyvitamin D concentrations in infants

To our knowledge, this is the first study to show that the reported 25(OH)D concentration may be influenced by both age and assay type

Research

Acute Rheumatic Fever and Rheumatic Heart Disease, 1st Edition

Acute Rheumatic Fever and Rheumatic Heart Disease is a concise, yet comprehensive, clinical resource highlighting must-know information on rheumatic heart disease and acute rheumatic fever from a global perspective

Research

Topical antiseptics for chronic suppurative otitis media

The effectiveness and safety profile of antiseptics in the treatment of chronic suppurative otitis media is uncertain

Research

Simultaneous Targeting of DNA Replication and Homologous Recombination in Glioblastoma with a Polyether Ionophore

Our findings highlight the potential of salinomycin to induce DNA lesions and inhibit homologous recombination to greatly enhance the effect of radiotherapy

Research

Early life exposure to coal mine fire smoke emissions and altered lung function in young children

Infant exposure to coal mine fire emissions could be associated with long-term impairment of lung reactance

Research

Optimized peripheral blood progenitor cell mobilization for autologous hematopoietic cell transplantation in children with high-risk and refractory malignancies

Our approach to hematopoietic progenitor cells mobilization resulted in highly effective HPC harvest in children and adolescents with high-risk cancers