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Showing results for "mental health aboriginal"

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...

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

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).

Translational Genetics

The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.

300th participant recruited to crucial respiratory research program

A research program, which enables over 25 important respiratory research studies to be undertaken, celebrated the recruitment of its 300th participant on 14 December 2022.

Antibody responses against influenza A decline with successive years of annual influenza vaccination

Influenza vaccine effectiveness and immunogenicity can be compromised with repeated vaccination. We assessed immunological markers in a cohort of healthcare workers (HCW) from six public hospitals around Australia during 2020-2021.

Aminoglycoside use in paediatric febrile neutropenia - Outcomes from a nationwide prospective cohort study

Aminoglycosides are commonly prescribed to children with febrile neutropenia (FN) but their impact on clinical outcomes is uncertain and extent of guideline compliance is unknown. We aimed to review aminoglycoside prescription and additional antibiotic prescribing, guideline compliance and outcomes for children with FN.

ATAGI Targeted Review 2021: the national COVID-19 vaccination program

The overarching goal of the Australian coronavirus disease 2019 (COVID-19) vaccination program has been to protect all people in Australia from the harm caused by the novel coronavirus SARS-CoV-2. This review reflects on the role of the Australian Technical Advisory Group on Immunisation (ATAGI) in the national COVID-19 vaccination program, in terms of the initial programmatic and clinical recommendations in the evolving context of evidence relating to the disease and vaccines, epidemiology, and the program rollout.

The Spectrum and Burden of COVID-19-Associated Neurologic Disease in Australian Children 2020-2023

We aimed to describe the clinical spectrum and burden of COVID-19-associated neurologic disease in Australian children.

Evaluating the effectiveness of the 13-valent pneumococcal conjugate vaccine and clinical and demographic characteristics on pneumococcal carriage density in young children

High nasopharyngeal pneumococcal carriage density is associated with severe pneumonia; however, little is known about factors that affect pneumococcal carriage density including pneumococcal vaccination. We describe pneumococcal density by clinical and demographic factors, and effect of 13-valent pneumococcal conjugate vaccine (PCV13) on density in Papua New Guinea (PNG), Lao People’s Democratic Republic (Lao PDR) and Mongolia, 3–6 years following national PCV13 introduction.