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Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorderThis study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.
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The impact a Mediterranean Diet in the third trimester of pregnancy has on neonatal body fat percentageMaternal diet during pregnancy has long been recognised as an important determinant of neonatal outcomes and child development. Infant body composition is a potentially modifiable risk factor for predicting future health and metabolic disease.
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‘Torn in two’: Experiences of Mothers Who Are Pregnant when Their Child Is Diagnosed With CancerMothers of children diagnosed with cancer have been shown to experience high rates of psychological distress and poor physical health. Pregnancy further increases the healthcare needs of mothers due to the marked physiological changes and psychological adaptations.
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Enabling successful life engagement in young people with ADHD: new components beyond adult models of recoveryTo examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.
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Systemic long-term metabolic effects of acute non-severe paediatric burn injuryA growing body of evidence supports the concept of a systemic response to non-severe thermal trauma. This provokes an immunosuppressed state that predisposes paediatric patients to poor recovery and increased risk of secondary morbidity.
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Minimising Adverse Drug Reactions and Verifying Economic Legitimacy-Pharmacogenomics Implementation in Children (MARVEL- PIC): protocol for a national randomised controlled trialDNA-informed prescribing (termed pharmacogenomics, PGx) is the epitome of personalised medicine. Despite international guidelines existing, its implementation in paediatric oncology remains sparse.
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Bacille Calmette-Guérin vaccination to prevent febrile and respiratory illness in adults (BRACE): secondary outcomes of a randomised controlled phase 3 trialBacille Calmette-Guérin (BCG) vaccination has off-target (non-specific) effects that are associated with protection against unrelated infections and decreased all-cause mortality in infants. We aimed to determine whether BCG vaccination prevents febrile and respiratory infections in adults.
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Modelling respiratory syncytial virus age-specific risk of hospitalisation in term and preterm infantsRespiratory syncytial virus (RSV) is the most common cause of acute lower respiratory infections in children worldwide. The highest incidence of severe disease is in the first 6 months of life, with infants born preterm at greatest risk for severe RSV infections.
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Illuminating mitochondrial translation through mouse modelsMitochondria are hubs of metabolic activity with a major role in ATP conversion by oxidative phosphorylation (OXPHOS). The mammalian mitochondrial genome encodes 11 mRNAs encoding 13 OXPHOS proteins along with 2 rRNAs and 22 tRNAs, that facilitate their translation on mitoribosomes.
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Maternal serum unmetabolized folic acid concentration following multivitamin and mineral supplementation with or without folic acid after 12 weeks gestation: A randomized controlled trialPregnant women are advised to take folic acid (FA) supplements before conception and during the first trimester of pregnancy. Many women continue FA supplementation throughout pregnancy, and concerns have been raised about associations between excessive FA intake and adverse maternal and child health outcomes.