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Research
Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
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The perspectives of autistic adolescents and their parents on sleep strategies for insomniaAutistic adolescents are vulnerable to sleep difficulties, with up to 80 % experiencing sleep problems, most commonly insomnia. Little is known about how autistic adolescents are involved in their own sleep treatment, and their depth of knowledge about their sleep difficulties. The aims of this study were to investigate autistic adolescent and parent perspectives of experiencing and managing insomnia, and what factors influence the development of these perspectives on insomnia and treatment.
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Pertussis Disease and Antenatal Vaccine Effectiveness in Australian ChildrenPopulation-level studies of severe pertussis extending beyond infancy are sparse, and none in the context of antenatal vaccination. We compared hospitalized pertussis cases from birth to 15 years of age before and after introduction of antenatal immunization.
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Characterising nitric oxide-mediated metabolic benefits of low-dose ultraviolet radiation in the mouse: a focus on brown adipose tissueNon-burning (low-dose) UVR suppresses the BAT 'whitening', steatotic and pro-diabetic effects of consuming a high-fat diet through skin release of nitric oxide
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Whole-Cell Pertussis Vaccination and Decreased Risk of IgE-Mediated Food Allergy: A Nested Case-Control StudyAustralian infants who received whole-cell pertussis vaccines were less likely to be diagnosed with food allergy in childhood
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A role for early oral exposure to house dust mite allergens through breast milk in IgE-mediated food allergy susceptibilityThis study highlights an unpredicted potential risk factor for the development of food allergy, that is, D pteronyssinus allergens in breast milk
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Assessment of different techniques for the administration of inhaled salbutamol in children breathing spontaneously via tracheal tubes, supraglottic airway devices, and tracheostomiesPerioperative respiratory adverse events account for a third of all perioperative cardiac arrests, with bronchospasm and laryngospasm being most common. Standard treatment for bronchospasm is administration of inhaled salbutamol, via pressurized metered dose inhaler. There is little evidence on the best method of attaching the pressurized metered dose inhaler to the artificial airway during general anesthesia. The aim of this study is to investigate the best method to deliver aerosolized salbutamol via pressurized metered dose inhaler to the lungs of an anesthetized child.
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Aging of preleukemic thymocytes drives CpG island hypermethylation in T-cell acute lymphoblastic leukemiaCancer cells display DNA hypermethylation at specific CpG islands in comparison to their normal healthy counterparts, but the mechanism that drives this so-called CpG island methylator phenotype (CIMP) remains poorly understood. Here, we show that CpG island methylation in human T-cell acute lymphoblastic leukemia (T-ALL) mainly occurs at promoters of Polycomb Repressor Complex 2 (PRC2) target genes that are not expressed in normal or malignant T-cells and which display a reciprocal association with H3K27me3 binding.
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Spatiotemporal mapping of malaria incidence in Sudan using routine surveillance dataMalaria is a serious threat to global health, with over 95 % of the cases reported in 2020 by the World Health Organization in African countries, including Sudan. Sudan is a low-income country with a limited healthcare system and a substantial burden of malaria.
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Pre-and Postnatal Vitamin D Status and Allergy Outcomes in Early ChildhoodThe dramatic increase in the prevalence of allergic disease in recent decades reflects environmental and behavioural changes that have altered patterns of early immune development. The very early onset of allergic diseases points to the specific vulnerability of the developing immune system to environmental changes and the development of primary intervention strategies is crucial to address this unparalleled burden.