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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Recent developments and emerging trends in dietary vitamin D sources and biological conversionThis review elaborates on biochemical characteristics, in vivo metabolism, biological conversion through UV irradiation, as well as dietary fortification of vitamin D. Recent innovations in vitamin D utilization, including nanoencapsulation, direct or indirect addition, emulsion, ultrasound, microwave processing, CRISPR-Cas9 genome editing, as well as UV photoconversion, were summarized.
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Evaluating COVID-19-Related Disruptions to Effective Malaria Case Management in 2020–2021 and Its Potential Effects on Malaria Burden in Sub-Saharan AfricaThe COVID-19 pandemic has led to far-reaching disruptions to health systems, including preventative and curative services for malaria. The aim of this study was to estimate the magnitude of disruptions in malaria case management in sub-Saharan Africa and their impact on malaria burden during the COVID-19 pandemic. We used survey data collected by the World Health Organization, in which individual country stakeholders reported on the extent of disruptions to malaria diagnosis and treatment.
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Play Active physical activity policy intervention and implementation support in early childhood education and care: results from a pragmatic cluster randomised trialPolicy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy.
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Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western AustraliaTo describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.
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Reliability of the Commonly Used and Newly-Developed Autism MeasuresThe aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments.
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Lifecourse childhood adiposity trajectories associated with adolescent insulin resistanceIn light of the obesity epidemic, we aimed to characterize novel childhood adiposity trajectories from birth to age 14 years and to determine their relation...
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Two newly identified cat allergens: The von Ebner gland protein Fel d 7 and the latherin-like protein Fel d 8Characterization of the complete IgE binding spectrum of cat allergens is important for the development of improved diagnosis and effective immunotherapeutics.
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Exhaled breath temperature in healthy children is influenced by room temperature and lung volumeExhaled breath temperature (EBT) has been proposed for the non-invasive assessment of airway inflammation
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Innate inflammatory responses of pediatric cystic fibrosis airway epithelial cells: Effects of nonviral and viral stimulationThere is controversy regarding whether cystic fibrosis (CF) airway epithelial cells (AECs) are intrinsically proinflammatory.
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Acute lower respiratory infections (ALRI) in Indigenous and non-Indigenous childrenIn Australia and many other developed countries, acute lower respiratory infection (ALRI) is one of the most common reasons for hospitalisation in young...