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Research

Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed

Research

Progressive increase of FcεRI expression across several PBMC subsets is associated with atopy and atopic asthma within school-aged children

The expression pattern of FcεRI on DC and basophils differentiates asthmatic from non-asthmatic atopic children

Research

Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation

Research

Efficacy of oral amoxicillin-clavulanate or azithromycin for non-severe respiratory exacerbations in children with bronchiectasis (BEST-1)

Amoxicillin-clavulanate treatment is beneficial in terms of resolution of non-severe exacerbations of bronchiectasis in children

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The cumulative effect of inflammation and infection on structural lung disease in early cystic fibrosis

Pulmonary inflammation in surveillance bronchoalveolar lavage has a cumulative effect on structural lung disease extent, more so than infection

Research

Complexities of conducting research in adolescent refugees resettling in Australia

Adolescent refugees resettling in Australia are a vulnerable and marginalised population and research to understand their health-care needs remains scarce

Research

Preferred health outcome states following treatment for pulmonary exacerbations of cystic fibrosis

Treatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials.

Research

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Research

Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.

Research

Fetal alcohol spectrum disorders screening tools: A systematic review

Screening facilitates the early identification of fetal alcohol spectrum disorder (FASD) and prevalence estimation of FASD for timely prevention, diagnostic, and management planning.