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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
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A hospital-based asynchronous ENT telehealth service for children with otitis media: Cost-minimisation and improved accessThe purpose of this study is to explore the effectiveness of a hospital-based asynchronous ear, nose, and throat telehealth service (the Ear Portal) in reducing cost and improving access for children with otitis media.
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Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related TraitsThe number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta-genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder.
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Interpregnancy interval and adverse birth outcomes: a population-based cohort study of twinsTo investigate associations between interpregnancy intervals (IPIs) and adverse birth outcomes in twin pregnancies.
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Impacts of body weight change on treatment outcomes in patients with multidrug-resistant tuberculosis in Northwest EthiopiaMeasuring body weight during therapy has received insufficient attention in poor resource settings like Ethiopia. We aimed to investigate the association between weight change during therapy and treatment outcomes among patients with multidrug-resistant tuberculosis in northwest Ethiopia.
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Indigenous Australian genomes show deep structure and rich novel variationThe Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation.
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A systematic search and narrative review of Aboriginal and Torres Strait Islander women and men pelvic health care: demonstrated need for improvementPelvic health conditions among Aboriginal and Torres Strait Islander women and men are under-recognised and under-reported despite indication of the significant burden of these conditions. Access to effective management provided in a culturally safe manner appears lacking.
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A Deep Learning-Based System for the Assessment of Dental Caries Using Colour Dental PhotographsDental caries remains the most common chronic disease in childhood, affecting almost half of all children globally. Dental care and examination of children living in remote and rural areas is an ongoing challenge that has been compounded by COVID.
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Transparent reporting of adaptive clinical trials using concurrently randomised cohortsAdaptive clinical trials have designs that evolve over time because of changes to treatments or changes to the chance that participants will receive these treatments. These changes might introduce confounding that biases crude comparisons of the treatment arms and makes the results from standard reporting methods difficult to interpret for adaptive trials. To deal with this shortcoming, a reporting framework for adaptive trials was developed based on concurrently randomised cohort reporting.
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Impact of Body Composition on the Accuracy of a Medtronic Guardian Continuous Glucose Monitoring SystemContinuous glucose monitoring systems are used in therapeutic decisions for diabetes management, however, the impact of body composition on CGM accuracy is not known. Body composition variables were collected in an observational study designed to determine the accuracy of an investigational Medtronic Guardian™ sensor 3.