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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.
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Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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Whole-cell pertussis vaccine in early infancy for the prevention of allergyThis is a protocol for a Cochrane Review (intervention). The objectives were to assess the efficacy and safety of whole‐cell pertussis (wP) vaccinations in comparison to acellular pertussis (aP) vaccinations in early infancy for the prevention of atopic diseases in children.
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Constitutive Activation of RAS/MAPK Pathway Cooperates with Trisomy 21 and Is Therapeutically Exploitable in Down Syndrome B-cell LeukemiaChildren with Down syndrome (constitutive trisomy 21) that develop acute lymphoblastic leukemia (DS-ALL) have a 3-fold increased likelihood of treatment-related mortality coupled with a higher cumulative incidence of relapse, compared with other children with B-cell acute lymphoblastic leukemia (B-ALL).
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Antimicrobial stewardship in remote primary healthcare across northern AustraliaThe high burden of infectious disease and associated antimicrobial use likely contribute to the emergence of antimicrobial resistance in remote Australian Aboriginal communities. We aimed to develop and apply context-specific tools to audit antimicrobial use in the remote primary healthcare setting.
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What’s inside the box? Or shall we think outside the box?With the deadly and highly transmissible SARS-CoV-2 virus causing the COVID-19 pandemic, there is global concern about the danger of contaminating healthcare workers (HCW), particularly during airway management of infected patients.
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Parental occupational exposure to pesticides and risk of childhood cancer in Switzerland: a census-based cohort studyPesticide exposure is a suspected risk factor for childhood cancer. We investigated the risk of developing childhood cancer in relation to parental occupational exposure to pesticides in Switzerland for the period 1990-2015.
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Associations Among Early Stimulation, Stunting, and Child Development in Four Countries in the East Asia–PacificThis study examined associations among preschool attendance, home learning activities, stunting status, and early child development using data from the validation study of the East Asia–Pacific Early Child Development Scales (EAP-ECDS).
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Spatial and temporal patterns of dengue incidence in Bhutan: a Bayesian analysisThis study aimed to quantify the spatial and temporal patterns of dengue and their relationship to environmental factors in dengue-affected areas
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Racial discrimination and child and adolescent health in longitudinal studies: A systematic reviewThis review emphasises the need to gain evidence for the mechanisms linking early racism exposure to adverse health outcomes in later life