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Showing results for "Au"

Research

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Research

Australian hospital paediatricians and nurses’ perspectives and practices for influenza vaccine delivery in children with medical comorbidities

Influenza vaccination of children with medical comorbidities is critical due their increased risks for severe influenza disease. In Australia, hospitals are an avenue for influenza vaccine delivery to children with comorbidities but are not always effectively utilised. Qualitative enquiry sought to ascertainment the barriers and enablers for influenza vaccination recommendation, delivery, and recording of these children at Australian hospitals.

Research

Modeling COVID-19 disease processes by remote elicitation of causal Bayesian networks from medical experts

COVID-19 is a new multi-organ disease causing considerable worldwide morbidity and mortality. While many recognized pathophysiological mechanisms are involved, their exact causal relationships remain opaque. Better understanding is needed for predicting their progression, targeting therapeutic approaches, and improving patient outcomes. While many mathematical causal models describe COVID-19 epidemiology, none have described its pathophysiology.

Research

Multi-Omic Data Integration Allows Baseline Immune Signatures to Predict Hepatitis B Vaccine Response in a Small Cohort

Vaccination remains one of the most effective means of reducing the burden of infectious diseases globally. Improving our understanding of the molecular basis for effective vaccine response is of paramount importance if we are to ensure the success of future vaccine development efforts. We applied cutting edge multi-omics approaches to extensively characterize temporal molecular responses following vaccination with hepatitis B virus (HBV) vaccine. Data were integrated across cellular, epigenomic, transcriptomic, proteomic, and fecal microbiome profiles, and correlated to final HBV antibody titres.

Research

Early life innate immune signatures of persistent food allergy

Early life innate immune dysfunction may represent a key immunological driver and predictor of persistent food allergy in childhood

Research

Maternal pre-pregnancy weight and autistic-like traits among offspring in the general population

This study provides further evidence that maternal pre-pregnancy obesity is associated with autism-like behaviors in offspring

Research

Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review

We review medical conditions that have been repeatedly highlighted as sharing the strongest associations with ASD-epilepsy, sleep, as well as gastrointestinal and immune functioning

Research

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives

Research

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.

Research

Evidence that infant and early childhood developmental impairments are associated with hallucinatory experiences: Results from a large, population-based cohort study

Cognitive and motor dysfunction are hallmark features of the psychosis continuum, and have been detected during late childhood and adolescence in youth who report psychotic experiences (PE). However, previous investigations have not explored infancy and early childhood development.