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Compression-strain US elastography does not accurately detect active myositis in children with juvenile idiopathic inflammatory myopathy and cannot replace MRI as the imaging standard for detecting myositis in these children. The association between abnormal US elastography and increased muscle echogenicity suggests that elastography is capable of detecting muscle derangement in patients with myositis; however further studies are required to determine the clinical significance of these findings.

Highlights d Zika virus antagonizes mitophagy by inhibiting Ajuba translocation to mitochondria d Viral suppression of mitophagy amplifies proinflammatory chemokine expression d Chemokine expression is dependent on PKR sensing of mitochondrial dsRNA d Suppressed mitophagy amplifies early chemokines and viral tissue burden in vivo

Objectives. Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis and acute kidney failure due to urate overproduction. Family history included a mother with tophaceous gout who developed end-stage kidney disease due to nephrolithiasis and an affected sister with polyarticular gout. The main aim of this study was to describe the clinical manifestations of PRPS1 superactivity in women. Methods. Whole exome sequencing was performed in affected females and their fathers. Results. Mutational analysis revealed a new c.520 G > A (p.G174R) mutation in the PRPS1 gene. The mutation resulted in decreased PRPS1 inhibition by ADP. Conclusion. Clinical findings in previously reported females with PRPS1 superactivity showed a high clinical penetrance of this disorder with a mean serum urate level of 8.5 (4.1) mg/dl [506 (247) mmol/l] and a high prevalence of gout. These findings indicate that all women in families with PRPS1 superactivity should be genetically screened for a mutation (for clinical management and genetic counselling). In addition, women with tophaceous gout, gout presenting in childhood, or a strong family history of severe gout should be considered for PRPS1 mutational analysis.