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As malaria incidence decreases and more countries move towards elimination, maps of malaria risk in low-prevalence areas are increasingly needed. For low-burden areas, disaggregation regression models have been developed to estimate risk at high spatial resolution from routine surveillance reports aggregated by administrative unit polygons.
The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Executive functioning and self-regulation influence a range of outcomes across the life course including physical and mental health, educational success, and employment
Review and highlight of the significant advances made towards vaccine development and understanding of the immunology of otitis media
Here we focus on the problem of prioritising variants with respect to the observed disease phenotype
Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected
We aim to determine the contribute of bacteria and virus to childhood CAP to inform further development of effective strategies.
Vaccination trials in high endemicity areas are needed to provide evidence and guidance on idea strategies to protect children in these areas against infections
Echocardiographic screening for rheumatic heart disease is cost-effective in our context