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Genomic characterization of clinically significant blood group variants in Aboriginal Australians

Hematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.

The Safety of Alcohol Pharmacotherapies in Pregnancy: A Scoping Review of Human and Animal Research

Alcohol pharmacotherapies pose unknown teratogenic risks in pregnancy and are therefore recommended to be avoided. This limits treatment options for pregnant individuals with alcohol use disorders (AUD). The information on the safety of these medications during pregnancy is uncertain, prompting a scoping review. The objective of this review was to investigate available information on the safety of alcohol pharmacotherapies in pregnancy.

The impact for DCD – USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of America

Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.

Language and reading impairments are associated with increased prevalence of non-right-handedness

Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies.

The role of exome sequencing in childhood interstitial or diffuse lung disease

Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality.

Nitrous oxide (N2O) and subsequent open-label SSRI treatment of adolescents with depression (NOTAD): Study protocol for a randomised controlled trial

The aim of this study is to investigate the antidepressant effects of N2O and N2O and SSRI combined.

Gross motor performance in children prenatally exposed to alcohol and living in remote Australia

A higher than expected proportion of children with fetal alcohol spectrum disorders had gross motor scores that indicated impairment and need for therapy

Disruptive mood dysregulation disorder

The new diagnostic category of disruptive mood dysregulation disorder (DMDD) was introduced in DSM-5

The effect of diesel exhaust exposure on blood-brain barrier integrity and function in a murine model

Epidemiological studies indicate that exposure to diesel exhaust (DE) is associated with vascular-based disorders.

Professor Desiree Silva

Co-Head, The ORIGINS Project