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Research
Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse ModelSeverity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.
Research
Missing Piece Study protocol: Prospective surveillance to determine the epidemiology of group A streptococcal pharyngitis and impetigo in remote Western AustraliaGroup A β-haemolytic Streptococcus (GAS), a Gram-positive bacterium, causes skin, mucosal and systemic infections. Repeated GAS infections can lead to autoimmune diseases acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Aboriginal and Torres Strait Islander peoples in Australia have the highest rates of ARF and RHD in the world.
Research
Quality of life in paediatric burn patients with non-severe burnsBurns are common worldwide, and the vast majority are non-severe burns of less than 20% of the total body surface area (TBSA). In Australia, paediatric burns account for a third of all burn admissions, thus understanding the quality-of-life outcomes after a non-severe burn in children is important.
Research
Maternal and neonatal outcomes of women with gestational diabetes and without specific medical conditions: an Australian population-based study comparing induction of labor with expectant managementTo evaluate maternal birth and neonatal outcomes among women with gestational diabetes mellitus (GDM), but without specific medical conditions and eligible for vaginal birth who underwent induction of labour (IOL) at term compared with those who were expectantly managed.
Research
The effect of family planning counselling on postpartum modern contraceptive uptake in sub-Saharan Africa: a systematic reviewFamily planning counselling at different contact points of maternal health services has been recommended for increasing the uptake of modern contraceptive methods. However, studies from sub-Saharan Africa (SSA) demonstrated inconsistent findings. The aim of this systematic review was to synthesise the available current evidence for the association between family planning counselling and postpartum modern contraceptive uptake in SSA.
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Long-term cost-effectiveness of Dexcom G6 real-time continuous glucose monitoring system in people with type 1 diabetes in AustraliaReal-time continuous glucose monitoring allows patients with diabetes to adjust insulin dosing, potentially improving glucose control. This study aimed to compare the long-term cost-effectiveness of the Dexcom G6 rt-CGM device versus self-monitoring of blood glucose and flash glucose monitoring in Australia in people with type 1 diabetes.
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Anti-Müllerian hormone concentration is associated with central adiposity and reproductive hormones in expectant fathersThe role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers.
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Botrytis cinerea Loss and Restoration of Virulence during In Vitro Culture Follows Flux in Global DNA MethylationPathogenic fungi can lose virulence after protracted periods of culture, but little is known of the underlying mechanisms. Here, we present the first analysis of DNA methylation flux at a single-base resolution for the plant pathogen B. cinerea and identify differentially methylated genes/genomic regions associated with virulence erosion during in vitro culture.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrumThe broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.