No abstract

Polygenic risk scores (PRSs) have an important relevance to approaches for clinical usage in intracranial aneurysm (IA) patients. Hence, we aimed to develop IA-predicting PRS models including the genetic basis shared with acute ischemic stroke (AIS) in Korean populations. We applied a weighted PRS (wPRS) model based on a previous genome-wide association study (GWAS) of 250 IA patients in a hospital-based multicenter cohort, 222 AIS patients in a validation study, and 296 shared controls. Risk predictability was analyzed by the area under the receiver operating characteristic curve (AUROC). The best-fitting risk models based on wPRSs were stratified into tertiles representing the lowest, middle, and highest risk groups. The weighted PRS, which included 29 GWASs (p < 5×10−8) and two reported genetic variants (p < 0.01), showed a high predictability in IA patients (AUROC = 0.949, 95% CI: 0.933–0.966). This wPRS was significantly validated in AIS patients (AUROC = 0.842, 95% CI: 0.808–0.876; p < 0.001). Two-stage risk models stratified into tertiles showed an increased risk for IA (OR = 691.25, 95% CI: 241.77–1976.35; p = 3.1×10−34; sensitivity/specificity = 0.728/0.963), which was replicated in AIS development (OR = 39.76, 95% CI: 16.91–93.49; p = 3.1×10−17; sensitivity/specificity = 0.284/0.963). A higher wPRS for IA may be associated with an increased risk of AIS in the Korean population. These findings suggest that IA and AIS may have a shared genetic architecture and should be studied further to generate a precision medicine model for use in personalized diagnosis and treatment.

We aimed to evaluate the accuracy of the classification of carotid plaque vulnerability (unstable vs. stable plaques) by neurosurgical residents based on carotid ultrasonography (US) images. Methods: A total of 405 subjects with 995 images were included in the study. Using a neuroradiologist's decision as the reference value, the classification results of five reviewers were analyzed. The sensitivity, specificity, and overall accuracy were estimated. Then, a pairwise comparison of the receiver operating characteristic (ROC) curve and precision-recall curve was performed to compare the reviewers' classification accuracy. Results:The mean age of the subjects was 70.5 years (range, 44-91 years) and 223 (55.1%) were female. The number of unstable and stable plaques was 236 (24.7%) and 749 (75.3%), respectively. The best-balanced classification performance of plaque vulnerability was a sensitivity of 83.7% (95% confidence interval [CI], 78.5%-88.1%), specificity of 69.0% (95% CI, 65.6%-72.3%), and overall accuracy of 72.7% (95% CI, 69.8%-75.4%). The best ROC performance was an area under the curve (AUC) of 0.583 (95% CI, 0.552-0.614). The precision-recall curve also showed low classification accuracy among the reviewers (AUC difference: 0.028; 95% bootstrap CI, 0.007-0.048). Conclusion:The classification accuracy of neurosurgical residents to discriminate plaque vulnerability seen on carotid US images was low in a real-world clinical setting. Thus, it is necessary to develop systems that help to educate and automatically interpret plaque stability.

Temporal lobe intracerebral hemorrhage (ICH) causing bilateral sensorineural hearing loss (SNHL) is considered rare. However, there are a few reports regarding the treatment of this condition, most of which have described the use of conservative treatment. We herein report the surgical outcome of a 58-year-old patient diagnosed with temporal lobe ICH presenting with bilateral SNHL. A 58-year-old male presented to our hospital complaining of bilateral deafness. Pure tone audiometry (PTA) revealed bilateral SNHL. He had a history of spontaneous ICH in the left temporal lobe region 2 years previously. Following routine intravenous dexamethasone, the patient was screened with brain magnetic resonance imaging. Imaging showed subcortical ICH (3.4×2.5×4.0 cm 3 ) in the right temporal lobe area. Further physical examination did not reveal any neurologic deficits other than deafness. He underwent surgery for ICH removal. Postoperative computed tomography confirmed that the ICH was removed. After surgery, his symptoms and follow-up PTA showed improvement on both sides within 2 days. Bilateral SNHL due to ICH is rare and has a poor prognosis. However, surgery may be an appropriate treatment for bilateral SNHL.