[ABSTRACT]OBJECTIVETo study clinical features and imaging manifestations of facial nerve hemangioma. METHODSClinical data of 5 cases with facial nerve hemangioma, who were diagnosed and treated in facial lab of Beijing Shijitan hospital between January 2006 and December 2011, were collected. There were 2 male and 3 female. The age ranged from 29-44 years. Among the 5 cases with facial nerve hemangioma, both HRCT of temporal bone and facial nerve enhancement MRI were performed on 4 cases, and one case underwent facial nerve enhancement MRI examination only.RESULTSAll the 5 cases firstly presented with sudden unilateral facial palsy. Facial palsy affected the left and right side in 4 cases and 1 case, respectively. Geniculate ganglion was affected in all cases. Local bony canal expansion at geniculate ganglion, labyrinthine segment and horizontal segment was the main manifestation of facial nerve hemangioma on HRCT, and the surrounding bone was incontinuous and less regular. The typical appearance was point-shape or pin-shape, similar to honeycomb structure. On MRI, soft tissue node image around geniculate ganglion accompanied by thickness of the adjacent facial nerve was the chief appearance. It showed mixed T1, uneven and slightly longer T2 signal with less clear border on horizontal scanning, and abnormal enhancement was exhibited after enhancement scanning.CONCLUSIONDetailed history together with HRCT of temporal bone and multi-planar reconstruction MPR as well as facial nerve enhancement MRI were useful for preoperative diagnosis of facial nerve hemangioma. The tumor should be removed with surgical approach was based on hearing conditions, tumor scale and the affected sites.in order to preserve integrity of facial nerve if possible.

AIM: To study the effects of hydrogen peroxied (H 2O 2) on cell proliferation and transcription of gelatinase A (MMP-2) and its inhibitor (TIMP-2) in vascular smooth muscle cells (VSMC). METHODS: Cell proliferation and toxicity by H 2O 2 were tested through MTT. The expression of MMP-2 mRNA and TIMP-2 mRNA in VSMC were evaluated by RT-PCR. RESULTS: The present study showed that H 2O 2 (more than 300 ?mol/L)was lethal to VSMC. 0 01-50 ?mol/L H 2O 2 promoted proliferation of VSMC in a time-dependant manner. A value (optical density) was reached to peak at 24 h after continuing stimulation of 10 ?mol/L H 2O 2. MMP-2/?-actin mRNA ratio significantly increased after stimulation with 1 ?mol/L?10 ?mol/L H 2O 2. TIMP-2/?-actin mRNA ratio was not significantly fluctuated at 12 h?24 h?36 h?48 h after continuing stimulation with 1 ?mol/L, 10 ?mol/L, and 50 ?mol/L H 2O 2.CONCLUSION: H 2O 2 at suitable concentrations stimulated proliferation of VSMC and induced transcription of MMP-2 gene in VSMC. There was no effect of H 2O 2 on transcription of TIMP-2 gene in VSMC. These results imply that H 2O 2 takes part in the pathological course of vascular remodeling through VSMC.

OBJECTIVETo detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).

METHODSPeripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.

RESULTSThe neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.

CONCLUSIONThe c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.

Objective: To study the shift of oVEMP frequency tuning of unilateral Meniere′s disease, by analyzing oVEMP of air-conducted tone bursts in various frequencies. Methods: From May 2016 to October 2017, 33 patients with unilateral Meniere′s from Aerospace Center Hospital were tested for oVEMP in 500 Hz and 1 000 Hz air-conducted tone bursts respectively, and 20 healthy subjects(40 ears), matched for age and sex, were used as healthy control. The amplitudes of the N1-P1 wave and the frequency amplitude ratios of 500/1 000 Hz in affected ears, unaffected ears and normal ears were compared; and receiver operating characteristic curve was analyzed for frequency amplitude ratios of 500/1 000 Hz. Results: By the 500 Hz tone-burst stimulus, the provocation rates of the oVEMP were 84.9%(28/33), 93.9%(31/33) and 97.5%(39/40) in affected ears, contralateral ears and the ears of normal controls, respectively. By the stimulus of 1 000 Hz tone-burst, the provocation rates of the oVEMP were 81.8%(27/33), 87.9%(29/33) and 82.5% (33/40) in affected ears, contralateral ears and normal control ears, respectively. Amplitudes of N1-P1 waveforms in 500 Hz air-conducted tone bursts in affected ears were under normal control ears and contralateral ears. There was significant difference between affected ears and healthy control ears (P<0.05). Amplitudes of N1-P1 waveforms in contralateral ears were also significantly smaller than those in normal control ears (P<0.05). There were no significant differences in amplitudes of N1-P1 waveforms between affected ears, contralateral ears and normal control ears in 1 000 Hz tone bursts stimulus(P>0.05). Frequency amplitude ratios of 500/1 000 Hz in affected ears were significantly under contralateral and normal control ears (P<0.05). According to ROC, the frequency amplitude ratio critical value of frequency tuning was set as 1.17, the positive rate of frequency tuning shift in affected ears was 54.5%(18/33) and significantly higher than in contralateral ears(18.2%, 6/33, χ²=9.429, P=0.002) and normal control ears (7.5%, 3/40, χ²=19.530, P=0.000). In contrast, there was no significant difference in the incidence of frequency tuning shift between contralateral ears and normal ears(χ²=1.909, P=0.167). Conclusions Frequency tuning oVEMP with Meniere′s disease will be changed.Frequency tuning of oVEMP with Meniere′s disease shifts from low frequency region to high frequency region in comparison with healthy people. Frequency amplitude ratio is helpful for diagnosis of Meniere′s disease.