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Research

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.

Research

Nasopharyngeal colonisation with nontypeable Haemophilus influenzae (NTHi) is associated with development of infections including pneumonia and otitis media. The 10-valent pneumococcal conjugate vaccine (PCV10) uses NTHi Protein D (PD) as a carrier. Papua New Guinean children have exceptionally early and dense NTHi carriage, and high rates of NTHi-associated disease.

Research

Children with medical comorbidities are at greater risk for severe influenza and poorer clinical outcomes. Despite recommendations and funding, influenza vaccine coverage remains inadequate in these children. We aimed to systematically review literature assessing interventions targeting influenza vaccine coverage in children with comorbidities and assess the impact on influenza vaccine coverage.

Research

A search strategy was developed to identify tools used to evaluate standard and teleaudiology hearing aid rehabilitation services for adults. A seven-domain hearing-health-care service model for validation was defined and used to analyse the applicability and suitability of patient- and service-centred tools. This model and the applicability and suitability criteria were based on the literature, the International Classification of Functioning (ICF) framework, and gold standard professional practice guidelines, which together formed the validation framework used in this study.

Research

A large proportion of preschoolers do not meet the recommended three hours of daily physical activity. A potential source of daily physical activity could be that provided via the family dog. This qualitative study aimed to explore the barriers and motivators to preschoolers playing with their dog and participating in family dog walks.

Research

Seizures, whether febrile or afebrile, occurring within 14 days following vaccination can be considered as vaccine proximate seizures (VPSs). While the attributable risk and clinical severity of first febrile VPS is well known, the risk and clinical outcomes of VPS recurrence is less well defined. We conducted a retrospective review of revaccination management and outcomes in children who experienced a VPS as their first seizure seen in Australian Specialist Immunisation Clinics between 2013 and 2017. Vaccination outcomes were compared between children who had a VPS as their only seizure (VPS only) and children who had further non-vaccine proximate seizures following their initial VPS (VPS+) prior to review at the clinic.

Research

Asbestos exposure is associated with many adverse health conditions including malignant mesothelioma and lung cancer as well as production of autoantibodies. Autoantibodies may serve as biomarkers for asbestos exposure in patients with cancer, and autoimmune dysfunction has been linked to increased rates of various cancers. The aim of this study was to examine the hypothesis that autoantibodies are more frequent in asbestos-exposed individuals with either lung cancer or mesothelioma than those without these conditions.

Research

The emerging literature on desistance (and recovery from addictions) has focused on key life-course transitions that can be characterised as the need for jobs (meaningful activities), friends (transitioning to pro-social) and houses (a home free from threat). The term ‘recovery capital’ is used to characterise personal, social and community resources an individual can draw upon to support their recovery, partly bridging agentic (personal) and structural (community) factors.

Research

To investigate the associations between interpregnancy intervals (IPIs) and developmental vulnerability in children's first year of full-time school (age 5). A retrospective cohort study using logistic regression. ORs were estimated for associations with IPIs with adjustment for child, parent and community sociodemographic variables.

Research

Previous research has found that human voice can provide reliable information to be used for gender identification with a high level of accuracy. In social psychology, perceived masculinity and femininity (masculinity and femininity rated by humans) has often been considered an important feature when investigating the influence of vocal features on social behaviours.