Congenital X-linked Stapes Gusher Syndrome in an Infant A Case Report

Congenital X-linked deafness with stapes gusher is a rare, but well-known clinical entity with characteristic radiological features. Recognition of these findings is important as it changes the treatment course and precludes stapedectomy, which if done can lead to stapes gusher in these patients. We present the case of a nine-month-old male infant with hearing loss. CT scan showed typical radiological features of X-linked stapes gusher syndrome. In addition, the superior semicircular canals appeared dehiscent which could be due to immature ossification or less likely due to defective development as part of the disease. To the best of our knowledge this is the youngest patient prospectively identified by imaging in the English medical literature

Addition of MR imaging features and genetic biomarkers strengthens glioblastoma survival prediction in TCGA patients.

The purpose of our study was to assess whether a model combining clinical factors, MR imaging features, and genomics would better predict overall survival of patients with glioblastoma (GBM) than either individual data type. The study was conducted leveraging The Cancer Genome Atlas (TCGA) effort supported by the National Institutes of Health. Six neuroradiologists reviewed MRI images from The Cancer Imaging Archive (http://cancerimagingarchive.net) of 102 GBM patients using the VASARI scoring system. The patients' clinical and genetic data were obtained from the TCGA website (http://www.cancergenome.nih.gov/). Patient outcome was measured in terms of overall survival time. The association between different categories of biomarkers and survival was evaluated using Cox analysis. The features that were significantly associated with survival were: (1) clinical factors: chemotherapy; (2) imaging: proportion of tumor contrast enhancement on MRI; and (3) genomics: HRAS copy number variation. The combination of these three biomarkers resulted in an incremental increase in the strength of prediction of survival, with the model that included clinical, imaging, and genetic variables having the highest predictive accuracy (area under the curve 0.679±0.068, Akaike's information criterion 566.7, P<0.001). A combination of clinical factors, imaging features, and HRAS copy number variation best predicts survival of patients with GBM