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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayThe 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.
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Systems biology and bile acid signalling in microbiome-host interactions in the cystic fibrosis lungThe study of the respiratory microbiota has revealed that the lungs of healthy and diseased individuals harbour distinct microbial communities. Imbalances in these communities can contribute to the pathogenesis of lung disease. How these imbalances occur and establish is largely unknown. This review is focused on the genetically inherited condition of Cystic Fibrosis.
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Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based CohortIn this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties
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Risk of Hospitalizations Following Gastrostomy in Children with Intellectual DisabilityGastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI
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Birth outcomes in Aboriginal mother–infant pairs from the Northern Territory, Australia, who received 23-valent polysaccharide pneumococcal vaccination during pregnancyWe found a numerically higher rate of preterm births among women who received 23vPPV in pregnancy compared to unvaccinated pregnant women
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Longitudinal trajectories of BMI z-score: an international comparison of 11,513 Australian, American and German/Austrian/Luxembourgian youth with type 1 diabetesThis multinational study presents unique body mass index z score trajectories in youth with type 1 diabetes across three continents
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Population pharmacokinetic study of benzathine penicillin G administration in Indigenous children and young adults with rheumatic heart disease in the Northern Territory, AustraliaBenzathine penicillin G is the cornerstone of secondary prophylaxis to prevent Streptococcus pyogenes infections, which precede acute rheumatic fever.
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A longitudinal examination of perinatal testosterone, estradiol and vitamin D as predictors of handedness outcomes in childhood and adolescenceThe developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal.
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Potassium Ion Channels in Malignant Central Nervous System CancersMalignant central nervous system (CNS) cancers are among the most difficult to treat, with low rates of survival and a high likelihood of recurrence. This is primarily due to their location within the CNS, hindering adequate drug delivery and tumour access via surgery. Furthermore, CNS cancer cells are highly plastic, an adaptive property that enables them to bypass targeted treatment strategies and develop drug resistance.
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A Gender Lens on User Quality Ratings From Young Teenagers Assessing the Sun Safe App: Comparing Responses From Co-researchers and Participants of Pilot Intervention StudiesWe developed the iOS smartphone app Sun Safe to support healthy sun practices in young teenagers (aged 12-13 years). The production involved co-design with young co-researchers (ie, aged 12-13 years) with a health message of using sun protection when the UV index is ≥3. Important features include real-time and location-specific weather data on the UV index and gamified educational content.