OBJECTIVE: Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness. METHOD: 1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion. RESULT: Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W,G130V, R143Q,p. R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma. CONCLUSION GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
Asian Continental Ancestry Group ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Keratoderma, Palmoplantar ; Mutation ; Phenotype

OBJECTIVE: To analyze the curative effect of CI in children with GJB2-associated NSSNHL. METHOD: The evaluations of curative effect with CI include auditory threshold, IT-MAIS/MAIS, CAP, SIR. MESP. The outcomes of 40 cases with GJB2-associated NSSNHI, were compared 80 patients with negative results of screening of gene mutation (control group). RESULT: In comparison with control group the auditory threshold in children with GJB2-associated NSSNIL is better, however had no significant difference in other tests (P > 0.05). CONCLUSION CI could he performed on children with GJB2-associated NSSNHL. Postoperative outcomes of hearing and speech were satisfied.
Child ; Child, Preschool ; Cochlear Implantation ; Connexin 26 ; Connexins ; genetics ; Female ; Hearing Loss, Sensorineural ; genetics ; surgery ; Humans ; Infant ; Male ; Mutation ; Treatment Outcome

Objective To investigate the effect of resveratrol (Res) on temozolomide (TEM) against gliomas in vivo.Methods Human glioma cell line T98G was transplanted into BALB/C-nu female nude mice to establish orthotopic human glioma cell transplanted models.Five d after modeling,the 48 successfully modeled nude mice were randomly divided into solvent control group,Res group,TEM group,combination drug group,Wnt signaling pathway agonist group,and Wnt signaling pathway inhibitor group(n=8);and dimethyl sulfoxide (10 mg/kg),Res (10 mg/kg),TEM (25 mg/kg),Res (10mg/kg+TEM (25 mg/kg),Res (10 mg/kg)+TEM (25 mg/kg)+lithium chloride (2 mg/kg),and Res (10mg/kg)+TEM (25 mg/kg)+IWR-1 (5 mg/kg) were given,respectively,once/d for 30 d.During the administration,the survival status of nude mice in each group was continuously observed,tumor volume was measured by MR imaging every 5 d.Thirty d after administration,TUNEL was used to detect the apoptosis of tumor cells,and immunofluorescence was used to detect the immunofluorescent intensity of O6-methylguanine-DNA methyltransferase (MGMT) and β-catenin in the tumor tissues.Western blotting was used to detect the protein expression levels of Wnt signaling pathway-related proteins (Wnt2,and β-catenin),MGMT,and glycogen synthase kinase 3β (GSK3β).Results As compared with the TEM group,the combination drug group and Wnt signaling pathway inhibitor group had significantly decreased tumor volumes 20,25,30,and 35 d after modeling (/P＜0.05);as compared with the combination drug group,the Wnt signaling pathway inhibitor group had significantly decreased tumor volumes while Wnt signaling pathway agonist group had significantly increased tumor volumes 20,25,30,and 35 d after modeling (P＜0.05).TUNEL showed that the apoptosis rate of tumor cells in the combination drug group and Wnt signaling pathway inhibitor group was significantly increased as compared with that in the temozolomide group (P＜0.05);as compared with that in the TEM group,the apoptosis rate of tumor cells in the Wnt signaling pathway inhibitor group was significantly increased while that in the Wnt signaling pathway agonist group was statistically decreased (P＜0.05).Western blotting results showed that as compared with those in the combination drug group,the protein expression levels ofWnt2,β-catenin,and MGMT in the Wnt signaling pathway inhibitor group were significantly reduced,and GSK-3β protein expression level was significantly increased;while the protein expression levels of Wnt2,[β-catenin,and MGMT in the Wnt signaling pathway agonist group were significantly increased,and GSK-3β protein expression level was significantly decreased (P＜0.05).Conclusion Res inhibits Wnt signaling pathway by reducing expressions of Wnt2 and β-catenin,leading to decrease in MGMT expression,thereby enhancing the anti-glioma effect of TEM.

As an essential component of intracranial venous circulation,cortical veins are prone to be injured or compressed,and cortical venous thrombosis was formed after traumatic brain injury (TBI) because of their special anatomical position,which could result in intracranial venous retum disorders,intracranial hypertension,and brain parenchymal damage in drainage areas.The cortical venous related circulation disorders after TBI are summed up in this review.

Objective To investigate the risk factors,mechanism and treatment strategies of expanding regional brain injury (traumatic intracerebral contusion or hematoma) in patients with acute traumatic epidural hematoma (ATEDH) after surgical evacuation.Methods Fifty-nine patients with ATEDH,admired to and accepted surgical evacuation in our hospital from February 2013 to September 2018,were chosen in this study;their clinical data and CT imaging data were retrospectively analyzed.The volume ofintracranial hematoma was measured by 3D Slicer software.According to the progress of local brain injury revealed by first CT examination after surgical evacuation,patients with ATEDH were divided into progressive group and non-progressive group.Risk factors of patients with expanding regional brain injury after surgery were analyzed by univariate and multivariate Logistic regression analyses.Results After surgery,22 showed expanding regional brain injury,accounting for 37.29％:9 occurred expanding intracerebral hematoma,and 2 of them died after conservative treatment;two had both expanding intracerebral contusion and hematoma;11 expanding intracerebral contusion patients developed into hematoma,and three of them occurred delayed intracerebral hematoma adjacent to the area of ATEDH,and two underwent secondary craniotomy with good recovery.As compared with patients from the non-progressive group,progressive group had significantly higher percentages of patients with preoperative hyperglycemia (＞9.1 mmol/L),patients with preoperative abnormal coagulation and patients accepted decompressive craniectomy (P＜0.05).Multivariate Logistic regression analysis revealed that preoperative abnormal coagulation was an independent risk factor for expanding intracerebral contusion or hematoma after surgery (OR=6.498,95％CI:1.076-39.253,P=0.041).Conclusion Expanding regional brain injury has high morbidity in patients with ATEDH after surgery evacuation;preoperative abnormal coagulation is an independent risk factor for its occurrence.

Objective To explore the efficacy and experience of surgical approaches of puncture drainage and urokinase thrombolysis for spontaneous hypertensive pontine hemorrhage.Methods The clinical data of 42 patients with spontaneous pontine hemorrhage, admitted to our hospital from January 2014 to December 2018, were retrospectively analyzed. Craniotomy evacuation of hematoma was performed in 18 patients (control group), and puncture drainage and urokinase thrombolysis assisted by neuronavigation was performed in 24 patients (observation group). The clinical efficacies of the two groups were observed and analyzed.Results There were 24 patients having hematoma clearance rate≥50％, including 7 from control group and 17 from observation group. The hematoma clearance rate≥50％ in the observation group (70.83％) was significantly higher than that in the control group (38.89％,P<0.05). Postoperative Glasgow-Pittsburgh scale scores of the observation group (24.21±4.85) were slightly higher than those of the control group (23.61±5.45), and the mortality of the observation group (66.67％) was lower than that of the control group (72.22％) without statistical significance (P> 0.05).Conclusion The surgical approach of puncture drainage and urokinase thrombolysis can effectively improve hematoma clearance rate for spontaneous hypertensive pontine hemorrhage, but clinical prognoses are not improved due to influence of multiple factors.

Objective To explore the risk factors,mechanism and treatment strategies of secondary brain injury (cerebral hemorrhage or cerebral infarction/encephaledema) adjacent to acute epidural hematoma after surgical evacuation.Methods Forty-four patients with acute epidural hematoma underwent craniotomy in our hospital from March 2013 to December 2018 were chosen in this study.According to postoperative CT or MR imaging examination results,patients were divided into group of secondary brain injury (n=11) and group of non-secondary brain injury (n=33).The clinical data of the two groups were compared,and the significance of epidural hematoma thickness in assessing secondary brain injury was analyzed by receiver operating characteristic (ROC) curve.Binary Logistic regression analysis was used to analyze the independent risk factors affecting secondary brain injury.Results After surgery,11 showed secondary brain injury:3 occurred cerebral hemorrhage,one of whom was diagnosed as having cerebral venous hemorrhage in the cortical vein drainage area caused by traumatic cerebral venous circulation disorder;6 had cerebral infarction/encephaledema,and 2 occurred hemorrhagic cerebral infarction/encephaledema;two underwent secondary craniotomy and both achieved satisfactory effect.As compared with patients from the non-secondary brain injury group,patients fromsecondary brain injury group had significantly higher percentage of patients with epidural hematoma thickness ≥ 33.5 mm (P＜0.05).ROC curve analysis showed that the thickness of epidural hematoma had predictive value in secondary brain injury after surgery (P＜0.05),and area under the curve was 0.722 and diagnostic threshold was 33.5 mm.Binary Logistic regression analysis revealed that epidural hematoma thickness ≥33.5 mm was an independent risk factor for secondary brain injury adjacent to epidural hematoma after surgery (odds ratio=7.367,P=0.024,95％CI=1.298-41.797).Conclusions Acuteepidural hematoma thickness ≥33.5 mm is a high-risk factor associated with secondary brain injury adjacent to epidural hematoma after surgery.Intracranial venous circulatory disorders have non-negligible effect on occurrence of secondary brain injury.