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        Research

        Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

        We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database. ...

        Research

        Data Resource Profile: The South Australian Well-being and Engagement Collection (WEC)

        Mental health and well-being during childhood and adolescence have been shown to impact on health, educational attainment and employment in adulthood.1–3 Although health and education systems worldwide have long recognized the importance of promoting student well-being,4–6 population-wide monitoring of well-being remains uncommon. ...

        Research

        Systems biology and bile acid signalling in microbiome-host interactions in the cystic fibrosis lung

        The 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. ...

        Research

        Lung inflammation and simulated airway resistance in infants with cystic fibrosis

        Cystic fibrosis (CF) is characterized by small airway disease; but central airways may also be affected. We hypothesized that airway resistance estimated from computational fluid dynamic (CFD) methodology in infants with CF was higher than controls and that early airway inflammation in infants with CF is associated with airway resistance. ...

        Research

        Spatiotemporal patterns of tuberculosis in Hunan province, China

        Tuberculosis (TB) is the leading cause of death from a bacterial pathogen worldwide. China has the third highest TB burden in the world, with a high reported burden in Hunan Province (amongst others). This study aimed to investigate the spatial distribution of TB and identify socioeconomic, demographic, and environmental drivers in Hunan Province, China. Numbers of reported cases of TB were obtained from the Tuberculosis Control Institute of Hunan Province, China. ...

        Research

        Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

        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

        High risk of early sub-therapeutic penicillin concentrations after intramuscular benzathine penicillin G injections in Ethiopian children and adults with rheumatic heart disease

        Intramuscular benzathine penicillin G (BPG) injections are a cornerstone of secondary prophylaxis to prevent acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Uncertainties regarding inter-ethnic and preparation variability, and target exposure profiles of BPG injection are key knowledge gaps for RHD control. ...

        Research

        PCV10 elicits Protein D IgG responses in Papua New Guinean children but has no impact on NTHi carriage in the first two years of life

        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

        Additional Insulin is Required in Both the Early and Late Postprandial Periods for Meals High in Protein and Fat: A Randomised Trial

        The pattern and quantity of insulin required for high protein high fat (HPHF) meals is not well understood. This study aimed to determine the amount and delivery pattern of insulin required to maintain euglycaemia for five hours after consuming a HPHF meal compared to a low protein low fat (LPLF) meal. ...

        Research

        Targeted Teacher Education to Improve Primary Preservice Teachers’ Knowledge and Understanding of UV and Effective Sun Protection Measures for Children

        Teachers are responsible for children at school during peak ultraviolet (UV) times of the day. It is paramount that teachers have knowledge and understanding of UV to effectively protect themselves and their students. The aim of this pilot study was to investigate the effect of a short intervention on preservice teachers’ sun protective behaviours, knowledge and perceived skill to teach sun safety. ...

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