1.The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype.
Shasha HUANG ; Bangqing HUANG ; Yongyi YUAN ; Guojian WANG ; Pu DAI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2014;28(22):1744-1747
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
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Connexins
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genetics
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Deafness
;
genetics
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Hearing Loss
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Hearing Loss, Sensorineural
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Humans
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Keratoderma, Palmoplantar
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Mutation
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Phenotype
2.Assessment of the curative effective of cochlear implantation in childer with GJB2-associated NSSNHL.
Chaochan CAI ; Shasha HUANG ; Xue GAO ; Bangqing HUANG ; Yongyi YUAN ; Guojian WANG ; Dongyang KANG ; Dongyi HAN ; Pu DAI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2014;28(13):972-974
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
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Child, Preschool
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Cochlear Implantation
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Connexin 26
;
Connexins
;
genetics
;
Female
;
Hearing Loss, Sensorineural
;
genetics
;
surgery
;
Humans
;
Infant
;
Male
;
Mutation
;
Treatment Outcome
3.Influencing factors of expanding regional brain injury in patients with acute traumatic epidural hematoma after surgical evacuation
Shilong FU ; Bangqing YUAN ; Liangfeng WEI ; Shangming ZHANG ; Jun LI ; Haibing LIU ; Weiqiang CHEN ; Shousen WANG
Chinese Journal of Neuromedicine 2019;18(6):555-562
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.
4.Recent advance in intracranial cortical venous circulation disorders after traumatic brain injury
Shilong FU ; Jun LI ; Bangqing YUAN ; Shousen WANG
Chinese Journal of Neuromedicine 2018;17(7):733-737
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.
5.Clinical efficacy observation and reconsideration of spontaneous hypertension pontine hemorrhage via microsurgery
Shangming ZHANG ; Mingchao SHANG ; Lin ZHAO ; Liangfeng WEI ; Bangqing YUAN ; Shousen WANG
Chinese Journal of Neuromedicine 2019;18(10):996-1000
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.
6.Influencing factors of secondary brain injury adjacent to acute epidural hematoma after surgical evacuation
Shilong FU ; Bangqing YUAN ; Bisong LIU ; Liangfeng WEI ; Shangming ZHANG ; Jun LI ; Haibing LIU ; Shousen WANG
Chinese Journal of Neuromedicine 2019;18(12):1189-1195
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.