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Research
Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorderValid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
Research
Diet at birth is critical for healthy growth, independent of effects on the gut microbiotaColostrum is the first milk for a newborn. Its high content in microbiota shaping compounds and its intake at the time of gut microbiota seeding suggests colostrum may be critical in the establishment of a healthy microbiota. There is also accumulating evidence on the importance of the gut microbiota for healthy growth.
Research
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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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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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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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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Characterization of mesenchymal stem cells in pre-B acute lymphoblastic leukemiaComponents of the bone marrow microenvironment (BMM) have been shown to mediate the way in which leukemia develops, progresses and responds to treatment. Increasing evidence shows that leukemic cells hijack the BMM, altering its functioning and establishing leukemia-supportive interactions with stromal and immune cells.
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The feasibility of a digital health approach to facilitate remote dental screening among preschool children during COVID-19 and social restrictionsTele-dentistry can be useful to facilitate screening of children, especially those living in rural and remote communities, and during the COVID-19 pandemic. This study evaluated the feasibility of tele-dental screening for the identification of early childhood caries (ECC) in preschoolers using an app operated by their parents with remote review by oral-health therapists.
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Protein Ingestion in Reducing the Risk of Late-Onset Post-Exercise Hypoglycemia: A Pilot Study in Adolescents and Youth with Type 1 DiabetesDietary protein causes dose-dependent hyperglycemia in individuals with type 1 diabetes. This study investigated the effect of consuming 50 g of protein on overnight blood glucose levels following late-afternoon moderate-intensity exercise.