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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems.
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Epigenetics of the non-coding RNA nc886 across blood, adipose tissue and skeletal muscle in offspring exposed to diabetes in pregnancyDiabetes in pregnancy is associated with increased risk of long-term metabolic disease in the offspring, potentially mediated by in utero epigenetic variation. Previously, we identified multiple differentially methylated single CpG sites in offspring of women with gestational diabetes mellitus, but whether stretches of differentially methylated regions can also be identified in adolescent GDM offspring is unknown.
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Urinary Ferritin as a Noninvasive Means of Assessing Iron Status in Young ChildrenIron deficiency (ID) is the most common nutritional deficiency affecting young children. Serum ferritin concentration is the preferred biomarker for measuring iron status because it reflects iron stores; however, blood collection can be distressing for young children and can be logistically difficult. A noninvasive means to measure iron status would be attractive to either diagnose or screen for ID in young children.
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Undernutrition increases the risk of unsuccessful treatment outcomes of patients with tuberculosis in Ethiopia: A multicenter retrospective cohort studyWhile undernutrition has been identified as a common risk factor for tuberculosis (TB), its impact on treatment outcomes has yet to be investigated in high TB burden and low-income countries such as Ethiopia. Therefore, this study aimed to investigate the effect of undernutrition on treatment outcomes among patients with TB in northwest Ethiopia.
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Community Priorities for Outcomes Targeted During Professional Supports for Autistic Children and their FamiliesProfessional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals.
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The genomic evolutionary dynamics and global circulation patterns of respiratory syncytial virusRespiratory syncytial virus (RSV) is a leading cause of acute lower respiratory tract infection in young children and the second leading cause of infant death worldwide. While global circulation has been extensively studied for respiratory viruses such as seasonal influenza, and more recently also in great detail for SARS-CoV-2, a lack of global multi-annual sampling of complete RSV genomes limits our understanding of RSV molecular epidemiology.
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A model of care for Aboriginal and Torres Strait Islander prisoner health and wellbeing in South AustraliaAboriginal and Torres Strait Islander (Aboriginal) people are overrepresented in Australian prisons, where they experience complex health needs. A model of care was designed to respond to the broad needs of the Aboriginal prisoner population within the nine adult prisons across South Australia. The purpose of this paper is to describe the methods and findings of the Model of Care for Aboriginal and Torres Strait Islander Prisoner Health and Wellbeing for South Australia.
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Changes in weight status of caregivers of children and adolescents enrolled in a community-based healthy lifestyle programme: Five-year follow-upWhānau Pakari is a family-centred healthy lifestyle programme for children/adolescents with overweight/obesity in New Zealand. This secondary analysis from our randomised trial within the clinical service assessed 5-year BMI changes in accompanying caregivers.
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Early versus late parenteral nutrition in term and late preterm infants: A randomised controlled trialThere is limited evidence regarding the optimal time to commence parenteral nutrition in term and late preterm infants.
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“Sometimes Our Mob Don't Really Take It Serious Until It's Serious”: The Experiences of Western Australian Aboriginal Adolescents Living With Type 2 Diabetes, Their Parents, and Their Family MembersIn Australia, Aboriginal children experience disproportionate rates of type 2 diabetes (T2D) compared with non-Aboriginal children. The aim of this qualitative study was to explore the experiences of Aboriginal adolescents with T2D and their family members to better understand the influences of T2D on self-management, with findings used to inform an enhanced service model of care.