| Sensorineural deafness is one of the otolaryngology department common disease,which is serious impact on human health and quality of life.It is an upward trend as the population ages,the detonation,noise,infection and clinical antibiotic abuse,in the incidence of deafness.Congenital ear malformation accout for about 20% of sensorineural deafness.Beacause of the inner ear is small in size,the structure is intricate,first of all need to develop normal for its diagnosis.There have been a number of scholars application of MSCT and anatomical method,to learn the inner structure,concluded that the inner ear measuring indicators of normal.It is necessary to set the normal index of inner ear in the region.Cochlear implantation is currently the only effective treatment hearing language rehabilitation.The human cochlear shows considerable interindividual variability in size and morphology.There have been a number of scholars applying MSCT and anatomical method to measure the inner structure and obtain the indicators of normal range.But the differences in methods,indexes and measurement results is differentand ethnic minorities in guangxi is a distinctive local features,so it is necessary to formulate the normal index normal of inner ear in guangxi region.Providing a reference basis for the qualitative and quantitative diagnosis of inner ear malformation,and for selection of cochlear implant electrode and to evaluate operation risk.Objective: Qualitative and quantitative diagnosis of inner ear malformation in normal individuals and deaf patients with inner ear malformation through multiplanar reconstruction(MPR)was performed to provide a reference for cochlear implants.Methods: 102 cases with normal ears and patients with sensorineural deafness were performed MPR of temporal bone computed tomography to obtain the standardized cochlear-view and oblique coronal-view images.The main radial lines were measured to formulate the range of normal values for inner ear malformation diagnosing,and the cochlear duct length(CDL)was estimated based on the cochlear length.Results: The normal ranges values of main radial lines in the inner ear were measured and formulated: cochlear length(CL)was 8.1-9.59 mm,and cochlear height(CH)was 3.28-3.90 mm.The diagnosis of inner ear malformation was performed according to inner ear morphology and the normal value ranges mentioned above.The results showed: 1 case of cochlear aplasia,3 cases of6 mbined with other inner ear malformations.The CDL in the normal group was32.76±1.27 mm.The HC group was further divided into the 1-turn,1.5-turn,and 2-turn subgroups,which had CDL of 15.98±1.48 mm,21.36±0.96 mm,and26.56±0.60 mm,respectively.Conclusion: The CL and CH measured through MPR will provide for more accurate qualitative and quantitative diagnosis of inner ear malformation,which can increase the diagnostic rate of inner ear malformation,especially HC,and is subsequently convenient for calculating CDL before cochear implant.Objective: To explore evaluating value of the cone beam CT(Conebeam CT)and electrode 3D reconstruction of the malformed ear postoperative cochlear implantation(CI).Methods: 73 cases of malformed cochlear and 94 cases of normal cochlear after CI(three types of electrode M,C,AB)were selected.Cone beam CT and three-dimensional reconstruction,electrode impedance and acoustic field were performed,and then analyzed the influence of electrode array shape change,impedance,sound field and its clinical significance.Results: Cone beam CT and three-dimensional reconstruction can clearly shows that the electrode array shape,location,three electrodes showed different array shape change.In M electrode,electrode impedance was larger in abnormal array shape change group than that in normal group,but it does not affect the sound field.The other two electrode morphology anomalies and the normal group doesnt show statistical differences in the impedance and acoustic field.Special cases such as vestibular and semicircular canal implanted,distorted electrode,or incompleted implant which led to too high or short in circuit impedance,needs to be reoperated or close the corresponding electrode.Conclusion: The cone beam CT three-dimensional reconstruction can be used routinely in electrode assessment after cochlear implantation.Abnormal electrode were seened more easily in deformed.Through the analysis of the electrode shape and impedance value measurement can offer reference for surgery and adjustment of electrode parametre.Deafness is one of the most common hereditary diseases,and ranks first in all kinds of disability.Several national and international studies on deafness from the basic screening for some rare syndrome and laboratory research had achieved remarkable results and drawn generic deafness spectrum between different countries,region and ethnic origin.Guangxi with 50 millionpopulations,very little study have been done on deafness and lack a systemic study on large level.Objective: Toexplore the genetic mutation spectrum of GJB2,SLC26A4,GJB3,mt DNA12 Sr RNA in patients with profound deafness in Guangxi Region of Southern China and understand the relation between genetic mutation and inner ear malformation,as well as study the features of genetic mutation between Zhuang and Han ethnicity.Methods:After completing questionnaire,physical examination,audiological examination a group of 384 cases with profound deafness were included in study.The mode of genetic study was extracted DNA from venous blood.100 healthy cases from Guangxi Region without hearing loss were assigned as control group for this study.The mode of genetic analysis was same as that of case.Both groups were screened by PCR Fluorescence Melting curve Analysis(FMCA)to detect 20 loci of the 4 gene mentioned above.All the patients were underwent GJB2 coding region sequencing and those patients with temporal bone CT-scan showed IP-II and EVAS further underwent SLC26A4 coding region sequencing.Result:1.Preliminary build the resource database of deafness patients in this region,which including the history,physical examination and audiological data,imaging data.Among 384 cases of severe-very severe sensorineural hearing loss in children,188 cases were male,196 cases were female;where as 232 cases were Hanethnicity,and Zhuang ethnicity comprises of 127 cases.On temporal bone CT-Scan 38 cases showed IP-II(including 35 cases of Mondini malformation),cochlear hypoplasia in 15 cases,simple vestibular aqueduct(EVAS)in 4 cases.With normal cochlea semicircular tube defects,9 cases;with normal vestibular cochlear malformation,8 cases;with normal cochlea,cochlear nerve foramen deformity in 8 cases,311 cases with inner ear no deformity.2.FMCA test results: GJB2,SLC26A4,GJB3,mt DNA,mutation number of cases(mutation frequency)was 18(4.69%),32(8.33%)3(0.78%)3(0.78%)respectively,a total of 56 cases,the total mutation rate was 14.58%.In GJB2 most common mutations in 235 del C(3.91%,2.86% 15 Li);299300del AT(2.08%,1.04%)similarly in SLC26A4 most common mutations in IVS7-2A> G(4.43%,2.86%),754T> C(3.39%,1.82%),1229C> T(1.82%,1.04%).No statistical significance of these mutations in the between Zhuang and Han ethnicity.GJB2 mutations were mainly observed in the inner ear ofnormal group,SLC26A4 mainly seen Mondini and EVAS.100 cases in the control group detected in one case IVS7-2A>G heterozygous mutation.GJB2 gene mutation was not detected.It is estimated that in the region of Guangxi,IVS7-2AG mutation rate of approximately 1% in healthy and normal human.3.The sequencing results:3.1 Incase group GJB2 mutation(mutation rate allele frequency)is: 109G> A(23.70%,13.80%),235 del C(4.43%,3.39%),299300del AT(2.08%,1.04%);and in control group 109G>A(23.70%,13.80%),235 del C,299300del AT mutation was not detected.The new mutation was found in the patient group587T>C(I196T),10G>C(G4R),the control group 68T> C(I23T),509A> G(N170S)by five species in a conservative analysis highly conserved except for509A> G,suggesting possible cause of deafness.GJB2 by FMCA method and sequencing showed the rate of 90%(18/20)above,specificity 100%,compared with the sequencing detection rate(excluding 109G> A)statistical difference was not significant in 109G> A mutation in the patient group and the control group,between Zhuang and Han ethinicity,in no deformity group groups there was statistical significant difference(P> 0.05),and were significantly higher than elsewhere in the country.235 del C,299300del AT mutation rate is significantly lower than the elsewhere,and only two mutations were found in the inner ear normal.3.2.SLC26 A sequencing Results: The total number of 39 cases of mutation,homozygous 7 cases,24 cases of compound heterozygous single heterozygous 7cases.Mutations have not been reported in8 cases,1252G> A(G418R),1352C> A(A451E),976G> A(G326S),980T> A(I327N),1400A> T(D467V),1960C> A(P654T),1990 G > A(V659E)are missense mutations.In addition to mutation1990 G > A in a species are conserved,other sites are highly conserved.Total detection rate: sequencing method(90.67%)compared FMCA method(74.42%)(p> 0.05),the detection rate of bi-allelic: sequencing method(76.74%)compared FMCA method(27.91%)was significantly higher(p <0.05),FMCA method and sequencing coincidence rate is estimated at 93.02%(40/43)-97.67%(42/43).SLC26A4 gene mutation in Mondini malformation / EVASdetection rate of 97.43%(38/39),IP-II(not with EVAS)were not detected in SLC26A4 mutations.In Zhuangethnic group top five mutations were 754T> C(4.72%),IVS7-2A> G(3.15%),2086C> T(3.15%),1229C> T(2.36%),1252G> a(0.79%),In Hanethnic group top five mutations were IVS7-2A> G(5.60%),754T> C(3.02%),1229C> T(2.16%),1252G> a(0.86%),2086 C > T(0.43%),5 loci mutation frequency and allele frequency in the Zhuang,and Han ethnicgroup the difference was not statistically significant.In comparison to national,international and other regional data.754T> C,2086C> T mutation is in possession of a higher proportion in the Guangxi region.Conclusions: 1.In this paper,the severe to profound hearing loss patients in guangxi region were perform gene detection and imaging studies,and preliminary build deafness genetic resource in this region,the ethnic han,zhuang were analysed.According to the classified method of the first part.IP-II(Mondini)was mainly malformation,the other abnormalities including vestibular,semicircular canal and internal acoustic canal deformity,EVAS was found in less in number than other region.2.FMCA test results compared to sequencing method has a high compliance rate(GJB2 not less than 90%,SLC26A4 93.02%),thus suitable for large-scale rapid screening.Sequencing method as the gold standard in the confirmed diagnosis of SLC26A4 mutations is obviously better than the FMCA method,and no obvious difference in the detection of GJB2.3.Preliminary result GJB2 gene was not associated with inner ear malformation,SLC26A4 and Mondini malformation / EVAS highly correlated,but in cases of incomplete partition alone may not be relevant conclusions.4.11 new mutations were found in this study,4in GJB2 gene,7in SLC26A4 gene,conservative analysis results in highly conservative,but whether they can cause the disease still needs large samples and laboratory research further.5.Our preliminary draw out for endemic deafness mutation spectrum: higher GJB2 gene 109G> A mutation rate and lower 235 del C;SLC26A4;754T> C,2086C> T high worldwide mutation rate.We provide scientific genetic resource base to carry out genetic counseling,anti-deafness and deafness treatment... |
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