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FASD Hub a one-stop-shop for research and information for professionals and parents

A website providing the latest research and resources on Fetal Alcohol Spectrum Disorder (FASD) is helping parents, educators, health professionals and policy makers navigate the complexities of the neurodevelopmental impairment condition.

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.

Preferences on the uptake and completion of single- or three-dose regimen of benzathine penicillin G injection for the treatment of late syphilis: a discrete-choice experiment

Notifications of syphilis in Australia have increased since 2011, particularly among gay and bisexual men who have sex with men (GBMSM). Adherence to current late latent syphilis treatment regimen is low-moderate, which is a significant health issue. To address this treatment non-compliance, a single high-dose benzathine benzylpenicillin G regimen has been under clinical trial.

Prenatal and Infant Reports and Child Protection Involvement: A Longitudinal Cohort Study

In Australia, infants have the highest rate of child protection involvement. Many jurisdictions in Australia and internationally have introduced policies for prenatal planning and support, however little is known about outcomes of infants reported prenatally. This study is the first to use cross-jurisdictional, individual-record data to examine child protection pathways associated with prenatal and infant reports. 

TANGO2 binds crystallin alpha B and its loss causes desminopathy

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

Quicker team launch times for urgent priority neonatal retrievals: A Quality Improvement Initiative study

Neonatal retrieval networks have adopted time-centric quality metrics as Key Performance Indicators (KPI) for setting and comparing benchmarking standards. Quicker launch time (departure from base), an essential KPI, enables neonatal retrieval teams to rapidly provide higher-level care to sick infants. The Newborn Emergency Transport Services of Western Australia (NETS WA) facilitates neonatal transfers across largest global retrieval area necessitating quicker team launch times for urgent retrievals. NETS WA conducted a quality improvement (QI) study to quicken team launch times for urgent retrievals.

Well-being and support preferences of siblings of individuals with a neurodevelopmental condition in regional and remote Australia: a mixed methods investigation

This convergent parallel mixed methods study examined the role of protective factors (resilience, family functioning, and social support) in explaining sibling well-being, alongside this population's support preferences and experiences. 

Conversion or Reversion of Interferon γ Release Assays for Mycobacterium tuberculosis Infection: A Systematic Review and Meta-analysis

Interferon γ release assays (IGRAs) are widely used for diagnosis of latent tuberculosis infection. However, with repeated testing, IGRA transformation (conversion or reversion) may be detected and is challenging to interpret. We reviewed the frequency of and risk factors for IGRA transformation.

Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer

Prostate cancer is the most commonly diagnosed malignancy and the third leading cause of cancer deaths. GWAS have identified variants associated with prostate cancer susceptibility; however, mechanistic and functional validation of these mutations is lacking.

“Connection, community and convenience”: A case study of a Facebook group for fathers navigating parenthood

Fathers remain less likely to participate in parenting interventions which can limit their ability to receive support and build their parenting capacity. The advent of social media has engendered novel opportunities for fathers to connect with, and support, one another in the form of online peer support. Growth of these online communities exemplifies the demand from fathers to relate to other fathers who are navigating parenthood. However, the benefits of membership to these communities remain unclear.