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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
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The economic and health burdens of diseases caused by group A Streptococcus in New ZealandIn preparation for the future arrival of a group A Streptococcus (GAS) vaccine, this study estimated the economic and health burdens of GAS diseases in New Zealand. The annual incidence of GAS diseases was based on extrapolation of the average number of primary healthcare episodes managed each year in general practices (2014-2016) and on the average number of hospitalizations occurring each year (2005-2014). Disease incidence was multiplied by the average cost of diagnosing and managing an episode of disease at each level of care to estimate the annual economic burden.
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A study protocol for a randomised controlled trial to evaluate the effectiveness of a dog-facilitated physical activity minimal intervention on young children's physical activity, health and development: the PLAYCE PAWS trialPet ownership brings many health benefits to individuals. In children developmental benefits can extend to improved self-esteem, better social competence and decreased loneliness. The majority of households with children own a dog, however only a small proportion of children gain the benefits of dog ownership through dog walking and play. There are few intervention studies investigating the impact of dog-facilitated physical activity in children. The PLAYCE PAWS study aims to test a minimal-contact intervention through the use of mobile health ("mhealth") strategies, i.e. text (SMS) messages, to parents to encourage their children to walk and play with their dog more, and evaluate the impact on children's overall physical activity and development.
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Do rapid diagnostic methods improve antibiotic prescribing in paediatric bacteraemia?Rapid blood culture pathogen identification facilitated by matrix-assisted laser desorption ionisation time-of-flight and GeneXpert has the potential to improve antibiotic prescribing. This study investigates the impact of these rapid diagnostics on the timeliness of effective and optimal antibiotic prescribing in paediatric patients with bacteraemia.
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DNA methylation and body mass index from birth to adolescence: meta-analyses of epigenome-wide association studiesDNA methylation has been shown to be associated with adiposity in adulthood. However, whether similar DNA methylation patterns are associated with childhood and adolescent body mass index (BMI) is largely unknown. More insight into this relationship at younger ages may have implications for future prevention of obesity and its related traits. We examined whether DNA methylation in cord blood and whole blood in childhood and adolescence was associated with BMI in the age range from 2 to 18 years using both cross-sectional and longitudinal models.
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Impact of a multimodal exercise program on tibial bone health in adolescents with Development Coordination Disorder: an examination of feasibility and potential efficacyDevelopmental coordination disorder (DCD) compromises bone health purportedly due to lower levels of physical activity. The potential of an exercise intervention to improve bone health parameters in adolescents with DCD has not previously been studied. This study thus aimed to determine the impact of a multimodal exercise intervention on bone health in this population at-risk of secondary osteoporosis.
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Facing the Ethical Challenges: Consumer Involvement in COVID-19 Pandemic ResearchConsumer involvement in clinical research is an essential component of a comprehensive response during emergent health challenges. During the COVID-19 pandemic, the moderation of research policies and regulation to facilitate research may raise ethical issues.
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Associations between interpregnancy interval and preterm birth by previous preterm birth status in four high-income countries: a cohort studyTo investigate the effect of interpregnancy interval (IPI) on preterm birth (PTB) according to whether the previous birth was preterm or term.
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The Brain Basis of Comorbidity in Neurodevelopmental DisordersThis review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights
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Preventive medicine for person, place, and planet: Revisiting the concept of high-level wellness in the planetary health paradigmHere, we discuss the relevance of planetary health in the era of personalized medicine, gross environmental concerns, and a crisis of non-communicable diseases