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Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trialsCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).
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Health promotion is central to the establishment of an Australian Centre for Disease ControlMelinda Edmunds BSc Program Manager, Ear and Hearing Health Melinda.Edmunds@thekids.org.au Program Manager Melinda is the Program Manager of the Ear
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The effect of undernutrition on sputum culture conversion and treatment outcomes among people with multidrug-resistant tuberculosis: a systematic review and meta-analysisWe aimed to evaluate the effect of undernutrition on sputum culture conversion and treatment outcomes among people with multidrug-resistant tuberculosis.
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Perspectives of health service providers in delivering best-practice care for Aboriginal mothers and their babies during the postnatal periodEvidence suggests that Aboriginal babies in Western Australia are not receiving adequate primary health care in their first 3 months of life, leading to questions about enablers and constraints to delivering such care. This paper presents findings from a qualitative research project investigating health providers' perceptions and experiences of best and current practice in discharge planning, postnatal care and health education for Aboriginal mothers and their newborn babies.
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Global estimates of the number of pregnancies at risk of malaria from 2007 to 2020: a demographic studyThe most recent global estimates of the number of pregnancies at risk of Plasmodium falciparum and Plasmodium vivax malaria infection are from 2007. To inform global malaria prevention and control efforts, we aimed to estimate the global distribution of pregnancies at risk of malaria infection from 2007 to 2020.
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The Benefits to Bone Health in Children and Pre-School Children with Additional Exercise Interventions: A Systematic Review and Meta-AnalysisDetermine if exercise interventions, beyond what is already provided to children and preschool children, improve bone health and reduce fracture incidence.
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The Utility of Natural Language Samples for Assessing Communication and Language in Infants Referred with Early Signs of AutismNatural Language Sampling (NLS) offers clear potential for communication and language assessment, where other data might be difficult to interpret. We leveraged existing primary data for 18-month-olds showing early signs of autism, to examine the reliability and concurrent construct validity of NLS-derived measures coded from video-of child language, parent linguistic input, and dyadic balance of communicative interaction-against standardised assessment scores. Using Systematic Analysis of Language Transcripts (SALT) software and coding conventions, masked coders achieved good-to-excellent inter-rater agreement across all measures.
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Single-cell transcriptomic and spatial landscapes of the developing human pancreasCurrent differentiation protocols have not been successful in reproducibly generating fully functional human beta cells in vitro, partly due to incomplete understanding of human pancreas development. Here, we present detailed transcriptomic analysis of the various cell types of the developing human pancreas, including their spatial gene patterns. We integrated single-cell RNA sequencing with spatial transcriptomics at multiple developmental time points and revealed distinct temporal-spatial gene cascades.
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Preclinical efficacy of azacitidine and venetoclax for infant KMT2A-rearranged acute lymphoblastic leukemia reveals a new therapeutic strategyInfants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required.
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Human Milk Sodium and Potassium as Markers of Mastitis in Mothers of Preterm InfantsThis prospective longitudinal study examined changes in milk sodium concentration (Na) and sodium:potassium ratio (Na:K), microbiological culture, milk production, and breast health in relation to mastitis after preterm birth.