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How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
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Impact of Body Composition on the Accuracy of a Medtronic Guardian Continuous Glucose Monitoring SystemContinuous glucose monitoring systems are used in therapeutic decisions for diabetes management, however, the impact of body composition on CGM accuracy is not known. Body composition variables were collected in an observational study designed to determine the accuracy of an investigational Medtronic Guardian™ sensor 3.
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Transient naive reprogramming corrects hiPS cells functionally and epigeneticallyCells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown.
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Fathers’ preconception smoking and offspring DNA methylationExperimental studies suggest that exposures may impact respiratory health across generations via epigenetic changes transmitted specifically through male germ cells. Studies in humans are, however, limited. We aim to identify epigenetic marks in offspring associated with father's preconception smoking.
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Incidence of Stroke in the Aboriginal and Non-Aboriginal Populations of Australia: A Data Linkage StudyMost estimates of stroke incidence among Aboriginal and Torres Strait Islander (hereinafter Aboriginal) Australians are confined to single regions and include small sample sizes. We aimed to measure and compare stroke incidence in Aboriginal and non-Aboriginal residents across central and western Australia.
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Severe Congenital Heart Defects and Cerebral PalsyTo report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.
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10-Valent pneumococcal non-typeable H. influenzae protein D conjugate vaccine versus 13-valent pneumococcal conjugate vaccine as a booster dose to broaden and strengthen protection from otitis media in Australian Aboriginal children: study protocol18 months of age infants receiving 10-valent pneumococcal Haemophilus influenzae protein D conjugate vaccine will have higher antibody levels
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Quality of benzathine penicillin G: A multinational cross-sectional studyBenzathine penicillin G (BPG) is used as first-line treatment for most forms of syphilis and as secondary prophylaxis against rheumatic heart disease (RHD). Perceptions that poor quality of BPG is linked to reported adverse effects and therapeutic failure may impact syphilis and RHD control programs. Clinical networks and web-based advertising were used to obtain vials of BPG from a wide range of countries.
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Pneumococcal conjugate vaccine primes mucosal immune responses to pneumococcal polysaccharide vaccine booster in Papua New Guinean childrenInvasive pneumococcal disease remains a major cause of hospitalization and death in Papua New Guinean (PNG) children. We assessed mucosal IgA and IgG responses in PNG infants vaccinated with pneumococcal conjugate vaccine (PCV) followed by a pneumococcal polysaccharide vaccine (PPV) booster.
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Clinical protocol for a longitudinal cohort study to identify markers of vaccine immunogenicity in newborn infants in the gambia and papua New GuineaImmunity is distinct in early life and greater precision is required in our understanding of mechanisms of early life protection to inform development of new pediatric vaccines