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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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Relationship between family quality of life and day occupations of young people with Down syndromeThis study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
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Micronutrient intakes from food and supplements in Australian adolescentsWe assessed micronutrient intakes in adolescents to determine whether supplement use optimises intakes.
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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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Risk of Hospitalizations Following Gastrostomy in Children with Intellectual DisabilityGastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI
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Oral contraceptive use in girls and alcohol consumption in boys are associated with increased blood pressure in late adolescenceWe aimed to assess the association of health behaviours with BP in adolescents, using data from the Western Australian Pregnancy (Raine) Study.
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Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based CohortIn this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties
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The Neuroprotective Efficacy of Cell-Penetrating Peptides TAT, Penetratin, Arg-9, and Pep-1 in Glutamic Acid, Kainic Acid, and In Vitro Ischemia Injury ModelsCell-penetrating peptides (CPPs) are small peptides (typically 5-25 amino acids), which are used to facilitate the delivery of normally non-permeable...
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Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett SyndromeThe U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome
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Rule-based exposure assessment versus case-by-case expert assessment using the same information in a community-based studyExpert assessment is often used to assess lifetime occupational exposures, but these assessments generally lack transparency and are very time-consuming.
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Birth outcomes in Aboriginal mother–infant pairs from the Northern Territory, Australia, who received 23-valent polysaccharide pneumococcal vaccination during pregnancyWe found a numerically higher rate of preterm births among women who received 23vPPV in pregnancy compared to unvaccinated pregnant women
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Lives on hold: A qualitative synthesis exploring the experience of chronic low-back painChronic nonspecific low-back pain (CLBP) is a prevalent, costly condition that is remarkably resistant to intervention.
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A Rationale for Change: An Increase in Invasive Pneumococcal Disease in Fully Vaccinated ChildrenA review of cases informed a change from a "3 + 0" infant schedule to a "2 + 1" schedule
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Clinical Predictors of Influenza in Young Children: The Limitations of “Influenza-Like Illness”This study aims to identify clinical predictors of influenza infection in children ≤5 years old from which age-specific ILI definitions are then constructed.
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Are there differences in immune responses following delivery of vaccines through acutely or chronically sun-exposed compared with sun-unexposed skin?The review provides the basis for further research into the effects of acute and chronic UV radiation exposure on skin cells in the context of vaccination
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Benzathine penicillin G for the management of RHD: Concerns about quality and access, and opportunities for intervention and improvementBenzathine penicillin G is an important antibiotic for the treatment and prevention of group A streptococcal infections associated with rheumatic fever and...
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Longitudinal trajectories of BMI z-score: an international comparison of 11,513 Australian, American and German/Austrian/Luxembourgian youth with type 1 diabetesThis multinational study presents unique body mass index z score trajectories in youth with type 1 diabetes across three continents
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Hypoglycaemia, fear of hypoglycaemia and quality of life in children with Type 1 diabetes and their parentsTo evaluate the association between fear of hypoglycaemia, episodes of hypoglycaemia and quality of life in children with Type 1 diabetes and their parents.