Identification of a novel missense eya4 mutation causing autosomal dominant non­syndromic hearing loss in a chinese family.

The aim of this study was to identify the novel missense eya4 mutation which cause autosomal dominant non syndromic hearing loss In a Chinese family. Hearing loss is the most common sensory deficit in humans, but the middle-frequency sensorineural hearing loss (MFSNHL) is rare among hereditary non-syndromic hearing loss, and EYA4 is one of the genes reported to be associated with MFSNHL. A genetic analysis of a Chinese family with autosomal dominant non­syndromic progressive hearing impairment was conducted and assessed. Targeted exome sequencing, conducted using DNA samples of an affected member in this family, revealed a novel heterozygous missense mutation c.1855T>G in exon 20 of EYA4, causing amino-acid (aa) substitution Gly for Trp at a conserved position aa-619. The p.W619G mutation related to hearing loss in this Chinese family was validated by Sanger sequencing. Bioinformatic analysis confirmed the pathogenic effects of this mutation. We identified the novel missense mutation c.1855T>G (p.W619G) in EYA4 causing autosomal dominant non-syndromic hearing impairment in the selected Chinese family.

Somatosensory and Brainstem Auditory Evoked Potentials Assessed between 4 and 7 Days after Severe Stroke Onset Predict Unfavorable Outcome.

Our objective was to explore the best predictive timing of short-latency somatosensory evoked potentials (SLSEP) and brainstem auditory evoked potentials (BAEP) for unfavorable outcomes in patients with early stage severe stroke. One hundred fifty-six patients with acute severe supratentorial stroke were monitored according to SLSEP, BAEP, and the Glasgow Coma Scale (GCS) at 1-3 days and 4-7 days after the onset of stroke. All patients were followed up for outcomes at 6 months after onset using the modified Rankin Scale (mRS), with a score of 5-6 considered unfavorable. The predictive values of SLSEP, BAEP, and the GCS at 1-3 days were compared with 4-7 days after onset. Our results show that, according to the analysis of prognostic authenticity, the predictive values of SLSEP and BAEP at 4-7 days after stroke onset improved when compared with the values at 1-3 days for unfavorable outcomes. Most of the patients with change of worsening evoked potentials from 1-3 days to 4-7 days after onset had unfavorable outcomes. In conclusion, SLSEP and BAEP assessed at 4-7 days after onset predicted unfavorable outcomes for acute severe stroke patients. The worsening values of SLSEP and BAEP between 1-3 days and 4-7 days also present a prognostic value.

Predicting comatose patients with acute stroke outcome using middle-latency somatosensory evoked potentials.

OBJECTIVE: To evaluate the prognostic value of middle-latency somatosensory evoked potential (MLSEP) in comatose patients with acute severe supratentorial stroke, considering both unfavourable outcome and death. METHODS: Eighty-eight patients with acute severe supratentorial stroke underwent MLSEP, short-latency somatosensory evoked potential (SLSEP), Glasgow Coma Scale (GCS) and cerebral computed tomography (CCT) within 1 week from onset. MLSEP and SLSEP were recorded in 25 normal controls. All patients were evaluated with two criteria of outcome as unfavourable outcome (modified Rankin Scale 4-6) and death 6 months after onset. N60 of MLSEP predictive value was compared with N20 of SLSEP, GCS and CCT. RESULTS: Sixty-seven patients (76.1%) suffered from cerebral infarction; and 21 patients (23.9%) suffered from intracerebral haemorrhage. Seventy-one patients (80.7%) had unfavourable outcomes and 39 patients (44.3%) died. The peak latencies of MLSEP were prolonged and some waves of MLSEP were absent in stroke patients, and the proportion of absent waves in lesion-ipsilateral MLSEP was higher than in contralateral MLSEP. By using the prognostic authenticity analysis of predictors, the lesion-ipsilateral absence of N60 showed the highest sensitivity for unfavourable outcome (97.2%, confidence interval (CI): 89.3-99.5%) and death (100%, CI: 88.8-100%), which was superior to GCS, CCT and N20. Bilateral absence of N60 showed a high specificity of 100% for unfavourable outcome, which was as good as bilateral absence of N20. However, it showed a specificity of 89.8% (CI: 77.0-96.2%) for death, not as good as bilateral absence of N20 (98%, CI: 87.8-99.9%). The false positive rate of lesion-ipsilateral absence of N60 for unfavourable outcome and death was 12.7% (CI: 6.6-22.5%) and 50.6% (CI: 39.2-62.0%), respectively, and that of bilateral absence of N60 was 0 (CI: 0-12.3%) and 14.3% (CI: 5.4-31.0%), respectively. CONCLUSIONS: We confirm the high predictive value of MLSEP in severe stroke. MLSEP showed higher sensitivity than SLSEP for predicting unfavourable outcome and death. Combined MLSEP with SLSEP results produced even greater predictive value. SIGNIFICANCE: The combination of MLSEP and SLSEP would increase the sensitivity and maintain the high specificity not only for predicting outcome in coma after cardiopulmonary resuscitation but also after severe stroke.

Parameters and grading of evoked potentials: prediction of unfavorable outcome in patients with severe stroke.

To explore the prognostic accuracy for unfavorable outcome with short-latency somatosensory evoked potential (SLSEP) and brainstem auditory evoked potential (BAEP) in patients with severe stroke, 100 acute severe supratentorial stroke patients [Glasgow Coma Scale, (GCS) 0.4). Prognostic accuracy of SLSEP, BAEP, and GCS for unfavorable outcome was very high (94.3%-98.7%), among which BAEP is the highest (97.5%-98.7%). The overall prognostic accuracy of SLSEP (90.5%-93.7%) was higher than BAEP (83.0%-89.4%) and GCS (82%). The prognostic accuracy of SLSEP and BAEP for unfavorable outcome in patients with severe supratentorial stroke was high, whereas for favorable outcome, it was low. The overall prognostic accuracy was higher than GCS.