A stepwise diagnostic paradigm tailored to the level of the hearing loss in children with bilateral SNHL is more diagnostically efficient and cost effective than the more commonly used full, simultaneous testing approach. Laboratory investigation should not be routine but based on clinical history.
Our population represents a consecutively enrolled clinic population with sensorineural hearing loss. In our DFNB1-related HI cohort, the 35delG mutation and severe to profound HI rates were lower than previously reported. Our missense mutation and M34T allelic prevalence rates were higher than expected and were associated with a less severe hearing loss. The presence of biallelic nonsense mutations was associated with severe to profound hearing loss in nearly 90% of cases. Mild asymmetric HI and sloping audiograms were more often associated with missense mutations.
Training as a radiology resident is a complex task. Residents frequently encounter multiple hospital systems, each with unique workflow patterns and heterogenous information systems. We identified an opportunity to ease some of the resulting anxiety and frustration by centralizing high-quality resources using a wiki. In this manuscript, we describe our choice of wiki software, give basic information about hardware requirements, detail steps for configuration, outline information included on the wiki, and present the results of a resident acceptance survey.
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