Background: Posterior circulation (PC) stroke, which was previously less well known than anterior circulation (AC) stroke, has become more identified due to the development of imaging equipment. Recently, the initial stroke severity assessed by the NIH Stroke Scale (NIHSS) was reported as a useful measure for predicting the outcome of PC as well as AC stroke. The aim of our study was to investigate the factors related to the stroke severity of PC ischemic stroke as assessed by the baseline NIHSS and the predictors of progressive neurological deficit and 3-month outcome. Methods: All patients with first-time PC stroke (onset ≤7 days), admitted for a 5-year period and given a complete evaluation including brain MRI and angiographic studies, were enrolled. Patients were divided into two groups by the baseline NIHSS: moderate-to-severe stroke (MTSS, NIHSS >5) and mild stroke (MS, NIHSS ≤5). Baseline characteristics, symptoms and progression, etiological subtypes, lesion characteristics from imaging, and patient 3-month outcome assessed by the modified Rankin Scale (mRS) were compared between the two groups. Results: Among 604 enrolled patients with PC ischemic stroke, 143 belonged to the MTSS group and 461 to the MS group. In logistic regression analysis, MTSS was independently associated with white blood cell count (odds ratio, OR = 1.00, p = 0.001), high sensitivity C-reactive protein level (OR = 1.23, p = 0.004), dysarthria (OR = 2.59, p = 0.013), weakness (OR = 6.43, p < 0.001), dysphagia (OR = 5.77, p < 0.001) and decreased consciousness (OR = 10.54, p < 0.001). The independent predictors associated with progressive neurological deficit were MTSS (OR = 3.82, p = 0.001), the distal territory classified by lesion location (OR = 0.09, p = 0.004) and dysphagia (OR = 2.38, p = 0.010). The independent predictors associated with a 3-month mRS of 3-6 were MTSS (OR = 7.69, p < 0.001), diplopia (OR = 0.26, p = 0.023), visual field defect (OR = 4.87, p = 0.014), dysphagia (OR = 3.15, p < 0.001) and progressive neurological deficit (OR = 4.27, p < 0.001). Conclusions: The initial severity categorization of PC ischemic stroke by the NIHSS has provided several distinctions and could help with the prediction of neurological deficit progression and 3-month clinical outcome.

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Hair cells in the cochlea display highly regulated actin polymerization, which is mediated by the human diaphanous-related formin 1 gene (DIAPH1; also called DFNA1, DIA1). DFNA1, the first type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is known to be associated with mutations in DIAPH1. However, no genetic study of DFNA1 in Koreans with hearing loss has yet been reported. A 51-year-old patient in a Korean family with ADNSHL was examined by pure-tone audiometry, and genetic analysis of DIAPH1 was performed. A novel variant, p.I530S (c.1589T > G), was identified in the DIAPH1 gene, and the mutation was located in the highly conserved coiled-coil domain of the DIA1 protein, where an amino acid substitution was predicted to change the domain structure. Further functional investigations will provide more information to help us understand the role of DIAPH1 in maintenance of hair cell function in the auditory pathway.

Background and PurposeCharcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients.MethodsWe analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale.ResultsClinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls.ConclusionsIn CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.

Although South Korea is a high-income country, its trauma system is comparable to low- and middle-income countries with high preventable trauma death rates of more than 30%. Since 2012, South Korea has established a national trauma system based on the implementation of regional trauma centers and improvement of the transfer system; this study aimed to evaluate its effectiveness. We compared the national preventable trauma death rates, transfer patterns, and outcomes between 2015 and 2017. The review of preventable trauma deaths was conducted by multiple panels, and a severity-adjusted logistic regression model was created to identify factors influencing the preventable trauma death rate. We also compared the number of trauma patients transferred to emergency medical institutions and mortality in models adjusted with injury severity scores. The preventable trauma death rate decreased from 2015 to 2017 (30.5% vs. 19.9%, p < 0.001). In the severity-adjusted model, the preventable trauma death risk had a lower odds ratio (0.68, 95% confidence interval: 0.53–0.87, p = 0.002) in 2017 than in 2015. Regional trauma centers received 1.6 times more severe cases in 2017 (according to the International Classification of Diseases Injury Severity Score [ICISS]; 23.1% vs. 36.5%). In the extended ICISS model, the overall trauma mortality decreased significantly from 2.1% (1008/47 806) to 1.9% (1062/55 057) (p = 0.041). The establishment of the national trauma system was associated with significant improvements in the performance and outcomes of trauma care. This was mainly because of the implementation of regional trauma centers and because more severe patients were transferred to regional trauma centers. This study might be a good model for low- and middle-income countries, which lack a trauma system.