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Research

Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.

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Preclinical Assessment of Dactinomycin in KMT2A-Rearranged Infant Acute Lymphoblastic Leukemia

Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have high rates of relapse and poor survival compared with children. Few new therapies have been identified over the past twenty years. The aim of this study was to identify existing anti-cancer agents that have the potential to be repurposed for the treatment of infant ALL.

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Predicting immune protection against outcomes of infectious disease from population-level effectiveness data with application to COVID-19

Quantifying the extent to which previous infections and vaccinations confer protection against future infection or disease outcomes is critical to managing the transmission and consequences of infectious diseases. We present a general statistical model for predicting the strength of protection conferred by different immunising exposures (numbers, types, and strains of both vaccines and infections), against multiple outcomes of interest, whilst accounting for immune waning. 

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Patient and carer priorities for research and clinical care of children with Down syndrome

Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.

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An Overview of the Skin Microbiome, the Potential for Pathogen Shift, and Dysbiosis in Common Skin Pathologies

Recent interest in the diverse ecosystem of bacteria, fungi, parasites, and viruses that make up the skin microbiome has led to several studies investigating the microbiome in healthy skin and in a variety of dermatological conditions. 

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Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series Analysis

To evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.

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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder

Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.

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Geospatial mapping of drug-resistant tuberculosis prevalence in Africa at national and sub-national levels

o map subnational and local prevalence of drug-resistant tuberculosis (DR-TB) across Africa. We assembled a geolocated dataset from 173 sources across 31 African countries, comprising drug susceptibility test results and covariate data from publicly available databases. We used Bayesian model-based geostatistical framework with multivariate Bayesian logistic regression model to estimate DR-TB prevalence at lower administrative levels.

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Health system and environmental factors affecting global progress towards achieving End TB targets between 2015 and 2020

Health system and environmental factors play a significant role in achieving the World Health Organization End Tuberculosis (TB) targets. However, quantitative measures are scarce or non-existent at a global level. We aimed to measure the progress made towards meeting the global End TB milestones from 2015 to 2020 and identify health system and environmental factors contributing to the success.

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Airborne personal protective equipment availability and preparedness in Australian and New Zealand intensive care units: A point prevalence survey

Personal protective equipment is essential to protect healthcare workers when exposed to aerosol-generating procedures in patients with airborne respiratory pathogens.