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Objectives@#. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. @*Methods@#. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. @*Results@#. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. @*Conclusion@#. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.
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To detect 20 common deafness gene mutations in non- syndromic deafness patients in China using PCR- RDB, and analyze and summarize the mutation data to explore the clinical value of this method. The PCR- RDB and Sanger sequencing were used to detect 20 common mutations of four deafness genes(, and ) in 500 patients with non- syndromic hearing loss . The Sanger sequencing was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by PCR- RDB. A total of 500 samples were detected. 147 wild- type samples, 81 homozygous mutant samples, 240 heterozygous mutant samples, 32 composite heterozygous mutant samples were detected using the PCR- RDB within the range of 20 gene mutations, which were identical to the Sanger sequencing results. GJB2 c.235delC and SLC26A4 c.919- 2 A>G are the most common hotspot mutations in this study, followed by mtDNA m. 1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real- time fluorescence PCR melting curve method were 100%, and the Kappa value was one. PCR reverse dot-blot hybridization is a simple, rapid, sensitive and specific method for detecting 20 mutations of 4 common deafness genes in Chinese population, it is expected to be used in clinical detection of deafness genes in the future.
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Objective@#To detect 20 common deafness gene mutations in non- syndromic deafness patients in China using PCR- RDB, and analyze and summarize the mutation data to explore the clinical value of this method. @*Method@#The PCR- RDB and Sanger sequencing were used to detect 20 common mutations of four deafness genes(GJB2, GJB3, SLC26A4 and mtDNA) in 500 patients with non- syndromic hearing loss . The Sanger sequencing was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by PCR- RDB. @*Result@#A total of 500 samples were detected. 147 wild- type samples, 81 homozygous mutant samples, 240 heterozygous mutant samples, 32 composite heterozygous mutant samples were detected using the PCR- RDB within the range of 20 gene mutations, which were identical to the Sanger sequencing results. GJB2 c.235delC and SLC26A4 c.919- 2 A>G are the most common hotspot mutations in this study, followed by mtDNA m. 1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real- time fluorescence PCR melting curve method were 100%, and the Kappa value was one. @*Conclusion@#PCR reverse dot-blot hybridization is a simple, rapid, sensitive and specific method for detecting 20 mutations of 4 common deafness genes in Chinese population, it is expected to be used in clinical detection of deafness genes in the future.
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Objective@#To detect 20 common deafness gene mutations in non-syndromic hearing loss patients in China using the melting curve method, and analyze and summarize the mutation data to explore the clinical value of this method.@*Methods@#The real-time fluorescence PCR melting curve method was used to detect 20 common mutations of four deafness genes(GJB2,GJB3,SLC26A4 and mtDNA) in 492 patients with non-syndromic hearing loss recruited between March 2014 and September 2016 from the Otolaryngology Department of Xiangya Hospital, Central South University(283 males and 209 females, the age ranged from 1 to 48 years old). The Sanger sequencing method was used to compare the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the deafness mutation detected by the real-time fluorescence PCR melting curve method.@*Results@#A total of 492 samples were detected. 193 wild-type samples, 93 homozygous mutant samples, 145 heterozygous mutant samples, 59 composite heterozygous mutant samples and 2 samples with unknown mutations were detected using the real-time fluorescence PCR melting curve method within the range of 20 gene mutations, whichwere identical to the Sanger sequencing results.The two samples were detected as unknown mutations by the real-time fluorescent PCR melting curve method were confirmed by Sanger sequencing, including a composite heterozygous mutant sample and a homogenous mutation sample. GJB2 c.235delC and SLC26A4 c.919-2 A>G were the most common hotspot mutations in this study, followed by mtDNA m.1555 A>G. Compared with the Sanger sequencing method, the sensitivity, specificity, positive predictive value, negative predictive value, and total coincidence rate of the real-time fluorescence PCR melting curve method were 100%, the Youden′s index was 1.0, and the Kappa value was 1.@*Conclusions@#The real-time fluorescence PCR melting curve method is suitable for the detection of deafness gene mutations. It has the advantages in terms of simple, rapid, high sensitivity and strong specificity and can accurately detect the 20 gene mutations of 4 common deafness genes in Chinese population, which is expected to be used for the clinical detection of deafness genes in the future.
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Objective:To investigate the mechanism for the synergistic effect of interferon regulatory factor 4 (IRF4) and microphthalmia-associated transcription factor (MITF) on tyrosinase (TYR)promoter.Methods:The synergistic transcriptional effect,subcellular localization,and protein-protein interaction for IRF4 and MITF were observed by luciferase assay,immunofluorescence,GST-pull down,and co-immunoprecipitation,respectively.Results:IRF4 and MITF proteins were co-expressed in the cell nucleus.IRF4 augmented the transcriptional function of MITF (but not the mutant MITF) to activate the expression of the TYR promoter,but with no effect on other MITF-specific target promoters.IRF4 alone did not affect TYR promoter significantly.No direct interaction between the two proteins was noted.Conclusion:IRF4 and MITF exert a specifically synergistic effect on activation of TYR promoter through IRF4-mediated upregulation of transcriptional function of MITF.This synergistic effect is mainly regulated by MITF;DNA might be involved in the interaction between the two proteins.
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<p><b>OBJECTIVE</b>To explore the pathogenetic mechanism of a family affected with Waardenburg syndrome.</p><p><b>METHODS</b>Clinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Plasmids for wild type (WT) and mutant MITF proteins were constructed to determine their exogenous expression and subcellular distribution by Western blotting and immunofluorescence assay, respectively.</p><p><b>RESULTS</b>A heterozygous c.763C>T (p.R255X) mutation was detected in exon 8 of the MITF gene in the proband and all other patients from the family. No pathological mutation of the SOX10 and SNAI2 genes was detected. The DNA sequences of plasmids of MITFand mutant MITFwere confirmed. Both proteins were detected with the expected size. WT MITF protein only localized in the nucleus, whereas R255X protein showed aberrant localization in the nucleus as well as the cytoplasm.</p><p><b>CONCLUSION</b>The c.763C>T mutation of the MITF gene probably underlies the disease in this family. The mutation can affect the subcellular distribution of MITF proteins in vitro, which may shed light on the molecular mechanism of Waardenburg syndrome caused by mutations of the MITF gene.</p>
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Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Études cas-témoins , Mutation , Génétique , Pedigree , Syndrome de Waardenburg , GénétiqueRésumé
Objective To study the clinical characteristicsand prognosis in pediatric sudden sensorineural hearing loss and provide guidance for clinical practice.Methods We retrospectively analyzed the clinical data of 23 pediatric sudden sensorineural hearing loss patients (25 ears) treated in our department during the past 9 years (from January 2008 to October 2016).Comparatively we looked into those related factors (age,gender,ear side,treatment onset,initial hearing threshold,virus infection history,audiogram configuration,presence of tinnitus,vertigo,ear fullness and recovery) between pediatric patients and 202 adult patients (219 ears).Results Pediatric patients comprised 10.2 % of pediatric/adult cases of sudden sensorineural hearing loss.The average hearing threshold (87.7± 16.1 dB),rate of presence of vertigo (48.0%) and rate of virus infectionin in the pediatric group,were significantly higher than those of in the adult group (P<0.05).Tinnitus occurred in 80% of pediatric patients,and 96 % of the audiogram configurations showed total deafness curves and flat lines.After positive treatment,the overall recovery rate of the pediatric and the adult group were 52.0% and 46.6%,and the rate of complete recovery was 4.0% and 14.2%,respectively.The difference was not statistically significant (P>0.05).Conclusion Pediatric sudden sensorineural hearing loss was generally identified as severe hearing loss with a high rate of presence of tinnitus and vertigo,and most audiogram configurations were total deafness in fiat lines.Virus infection probably is one of the primary etiologies for sudden sensorineural hearing loss in children.
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OBJECTIVE@#To summarize and analyze the clinical characteristics of Mondini dysplasia with cerebrospinal fluid leakage, as well as preliminarily investigate the genetic mechanism of the disease.@*METHOD@#The clinical data of 2 patients diagnosed as Mondini dysplasia with cerebrospinal fluid leakage treated in our hospital were analyzed. Blood samples of these two patients were obtained to extract DNA. We screened DNA samples for gene SLC26A4 mutations by using polymerase chain reaction and direct sequencing. The sequencing results were analyzed in DNASTAR software.@*RESULT@#Both patients came to our hospital because of recurrent meningitis, and the fistula were both located in vestibular window. Patients were cured one-time after surgical closure of the leakages with temporalis + temporalis fascia + temporalis through the mastoid approach. No pathogenic mutations of gene SLC26A4 with exome sequencing were found.@*CONCLUSION@#Mondini dysplasia with cerebrospinal fluid leakage should be considered in patients with recurrent meningitis and hearing disorder. Temporal bone HRCT is helpful to the diagnosis. Surgical closure is an effective therapeutic method and may prevent recurrent meningitis. The molecular mechanism of simple Mondini dysplasia needs further study.
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Humains , Fuite de liquide cérébrospinal , Cochlée , Anatomopathologie , Fistule , Anatomopathologie , Hyperplasie , Génétique , Protéines de transport membranaire , Génétique , Méningite , Mutation , Transporteurs de sulfateRésumé
OBJECTIVE@#To explore the effect of masking therapy for the early stage of the patients with noise-induced tinnitus,and imply the treatment for patients with noise-induced tinnitus.@*METHOD@#Sixty-eight cases with tinnitus were studied. All the patients took the audiological examinations and tinnitus tests firstly, and accepted the masking therapy for 6 months. The therapeutic effiency was evaluated according to tinnitus handicap inventory (THI) and subjective visual-analogue scale (VAS). The minimum masking intensity was also evaluated.@*RESULT@#The majority of the patients with noise-induced tinnitus (59 cases, 86. 8%) had tinnitus frequency of 4 kHz,and most of them (44 cases, 64. 7%) had positive residual inhibition tests. Tinnitus completely disappeared in 3 cases after masking therapy, and the efficiency of this treatment is 83. 8%. There was significant difference in the scores of THI and VAS before and after therapy(P<0. 01), and there was also significant difference in the minimum masking intensity (P<0. 01).@*CONCLUSION@#Masking therapy is the most important treatment for the patients in the early stage of noise-induced tinnitus. The therapeutic effiency is significant and should be promoted.
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Humains , Bruit , Acouphène , ThérapeutiqueRésumé
OBJECTIVE@#To analyze and summarize nystagmus of patients with posterior canal benign paroxysmal positional vertigo (BPPV) in positioning test,and to improve the diagnosis and treatment of posterior canal BPPV (PSC-BPPV).@*METHOD@#The present study was conducted on 175 patients who had unilateral BPPV of the posterior semicircular canal (PSC). Their positional nystagmus recorded by videnonystagmography in Dix-Hallpike test,roll test and roll over test were analyzed to summarize the characteristics of nystagmus on nystagmograph of PSC-BP-PV.@*RESULT@#Of the 175 patients, lesion was located in the left PSC in 69 (39.4%) patients,the right PSC in 106 (60. 6%)patients. The nystagmus of patients with PSC-canalithiasis showed upward on the vertical phase of nystagmograph and orientated the different side on horizontal phase in the head hangging position. The horizontal phase pointed to the contralateral side in 47(26. 9%) patients, the ipsilateral contralateral side in 100(57. 1%) patients,no significant reverse ingredients in 28(16.0%) patients. When these patients returned to sit,139(79.4%) patients showed down beating positioning nystagmus, whereas 36 (20. 6%) patients with no nystagmus only had a short vertigo or dizziness. The horizontal phase of the 139 patients pointed to the contralateral side in 40(22. 9%) patients,the ipsilateral contralateral side in 68(38. 9%) patients,no significant reverse ingredients in 31(17. 7%) patients. In roll test,12 patients of the right PSC-BPPV presented an up-beating rotatory nystagmus when the head turned to right,and 5 patients of the left PSC-BPPV presented a down-beating rotatory nystagmus when the head turned to left. When the patients changed body from the left lateral position to the right lateral position in the roll over test, 74(42. 3%) patientsshowed vertical positioning nystagmus. In 30 patients who presented an up-beating nystagmus, there were 25(83. 3%) patientscame from the right PSC-BPPV. In 44 patients who presented a down-beating nystagmus, there were 36(81. 8%) patientscame from the left PSC-BPPV. The direction of the vertical nystagmus was highly correlated with the judgment about the side of the PSC-BPPV in roll over test (P<0. 01).@*CONCLUSION@#The patient with PSC-canalithiasis showed an uncertain direction in torsional nystagmus in Dix-Hallpike test,the diagnosis was mainly concern with the vertical nystagmus. When we found a rotatory nystagmus with much more up-beating nystagmus in roll test, it might be PSC-BPPV. We also can use the roll over test to diagnose the location of the otolith in which side of the PSC-BPPV.
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Humains , Vertige positionnel paroxystique bénin , Sensation vertigineuse , Électronystagmographie , Face , Tête , Nystagmus physiologique , Membrane des statoconies , Positionnement du patient , Canaux semicirculaires osseux , Vertige , Épreuves vestibulairesRésumé
OBJECTIVE@#Aimed to analyse the clinical features of the patients with sphenoid sinus mucocele, achieve earlier diagnosis and more timely intervention and decrease the occurrence of misdiagnoses.@*METHOD@#A retrospective study was first conducted in patients with sphenoid sinus mucoele treated in Xiangya hospital from Jan 2000 to Jan 2015. Then literature reports on this disease were collected and analyzed from China National Knowledge Infrastructure (CNKI) and Wan Fang database.@*RESULT@#We collected 82 patients with sphenoid sinus mucocele treated in Xiangya hospital. There were 52 patients presented with headache, 31 patients presented with visual impairment, 10 patients presented with cranial nerve palsy, 2 patients presented with exophthalmos, 15 patients presented with nasal symptoms, and 5 patients with no obvious symptoms. There was no significant difference for symptoms distribution between male and female patients (P > 0.05). Among 45 patients with headache as first symptom and 10 patients with ethmoid sinus mucocele, there were 18 patients and 8 patients subsequently suffering from visual impairment, respectively. We also collected 161 patients in literature except for enrolling, the 82 patients treated in Xiangya hospital, and found that headache was the most common symptom, followed by visual impairment, in the two independent cohorts.@*CONCLUSION@#To the best of our knowledge, this is the study of maximum sample for sphenoid sinus mucocele in China. Headache and visual impairment are the most common symptoms for sphenoid sinus mucocele. Surgical treatment should be early performed when the desease accompanied with headache or ethmoid sinus mucocele, to avoid other complications such as visual impairment and even blindness.
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Femelle , Humains , Mâle , Chine , Atteintes des nerfs crâniens , Bases de données factuelles , Erreurs de diagnostic , Sinus ethmoïdal , Exophtalmie , Céphalée , Mucocèle , Diagnostic , Anatomopathologie , Maladies des sinus , Études rétrospectives , Sinus sphénoïdal , Anatomopathologie , Troubles de la visionRésumé
Objective To study exogenous expression and subcellular localization of wild type (WT ) and mu-tant PAX3 proteins in vitro by generating their expression plasmids for further study of pathogenesis of Waarden-burg syndrome (WS) .Methods The plasmids pECE-PAX3 and pcDNA3 .0-HA were ligased after they were cut by double enzyme digestion using molecular cloning technique to generate recombinant eukaryotic expression plasmid pcDNA3 .0-PAX3-HA ,which was as a template to generate expression plasmids pcDNA 3 .0 -H80D -HA and pcDNA3 .0-H186fs-HA of novel mutations H80D and H186fs of PAX3 gene .All constructs were verified by di-rect nucleotide sequencing .NIH3T3 cells were transfected transiently with the expression plasmids of PAX3 ,H80D and H186fs respectively .The exogenous expression of WT PAX3 protein and mutant H80D ,H186fs proteins were analysed using Western blot assay ,while their subcellular distribution were observed using immunofluorescence as-say .Results The DNA sequences of expression plasmids of PAX3 and its mutant H80D ,H186fs were correct . Both WT and mutant PAX3 proteins were detected at the expected size .WT PAX3 and H80D proteins were only lo-calized in the nucleus ,whereas H186fs protein showed aberrant localization in both cytoplasm and nucleus .Conclu-sion We successfully generated the recombinant eukaryotic expression plasmids of PAX 3 gene and its mutants and drew preliminary conlusion of gene mutation having effect on subcellular distribution of WT PAX 3 proteins in vitro , which lays experimental basis for further study of the moceluar mechanism of WS caused by PAX3 gene mutations in China .
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Objective To investigate audiological characteristics of patients with intact tympanic membranes and conductive or mixed hearing loss .Methods A retrospective study was carried out among 30 patients (42 ears) with intact tympanic membranes and conductive or mixed hearing loss who underwent exploratory tympanotomy . The preoperative outcomes of pure tone audiometry ,tympanometry ,resonant frequency of middle ear and temporal bone CT scan were analyzed .Results Among 42 ears ,30 ears with otosclerosis and 12 ears with ossicular chain dis-ruption were confirmed in exploratory tympanotomy ,but only 5 ears showed positive findings in CT scan .The mean thresholds of bone conduction ,air conduction and air -bone gap at frequencies of 0 .5 ,1 and 2 kHz were 27 .5 ± 1 .3 dB HL ,67 .0 ± 1 .8 dB HL ,39 .5 ± 1 .1 dB HL ,respectively .An analysis of tympanometric data of all patients re-vealed that 50% of all ears (21/42) were type A tympanograms ,42 .9% (18/42) were type As tympanograms ,and 7 .1% (3/42) were type Ad tympanograms .The mean of the resonant frequency of the middle ear in otosclerositic patients (1 079 .0 ± 67 .4 Hz) was significantly higher than ossicular chain disruption patients (633 .3 ± 43 .6 Hz) . Conclusion Otosclerosis is the most common in the patients with intact tympanic membranes and conductive or mixed hearing loss .The middle ear resonant frequency of otosclerositic patients is significantly higher than that of ossicular chain disruption patients .
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OBJECTIVE@#In order to provide help for preoperative assessment of cochlear implantation, related dissection of temporal bone was conducted guided by high resolution computerized tomography (HRCT) in accordance to the main steps of cochlear implantation, and was compared to HRCT measurements on a viewing workstation.@*METHOD@#Six temporal bones were dissected according to the main steps of cochlear implantation and scanned in axial and semilongitudal planes by HRCT to observe the relationship between anatomy and HRCT.@*RESULT@#The width of facial recess in dissection was (3.13 +/- 0.34) mm at the level of round window, and (4.12 +/- 0.44) mm at the level of oval window. The width of facial recess in HRCT was (3.20 +/- 0.38) mm at the level of round window, and (4.14 +/- 0.47) mm at the level of oval window. The whole course of facial nerve was visualized clearly in semilongitudal plane. No statistically significant differences were found between the results of dissection and HRCT.@*CONCLUSION@#The distance in axial between facial nerve and posterior wall of external auditory canal and the distance from facial nerve to round window in semilongitudal plane are the most important parameters which reflect the position of facial nerve. The vertical portion of facial nerve, posterior wall of external auditory canal, round window are important measurement landmarks. Related preoperative measurements of cochlear implantation by HRCT can help to guide clinic surgery.
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Enfant d'âge préscolaire , Humains , Nourrisson , Implantation cochléaire , Méthodes , Implants cochléaires , Conduit auditif externe , Nerf facial , Fenêtre ronde de la cochléeRésumé
Objective To study the clinical application of the complete audiologic evaluation battery consisting of ABR,ASSR and behavioral audiometry in sound field for the identification of sensorineural losses in children.Methods In the study 48 children were divided as group PTA of the children assessed by pure tone audiometry and ABR and ASSR test,and group BA of the children unable to perform on behavioral evaluations.Results The analysis of the audiometric results of group PTA showed significant correlation between the ASSR thresholds and pure tone thresholds(P<0.01) at various frequencies.The correlation coefficients were 0.75,0.76,0.76,and 0.83 at different frequencies.The ASSR-PTA linear regression was utilized.The comparison of the ABR and ASSR results of group BA indicated that 23 ears responded in ASSR but without responses in ABR.Those without ASSR responses also had no ABR There were 116 tests in total four frequencies for the 29 ears.83 responses were obtained from ASSR,89 responses from behavior audiometry and 96 from the use of the both tests.Conclusion The comprehensive audiologic evaluation battery could be used to test younger children with severe heating loss children as compared to the pure tone audiometry alone.More detailed data can be obtained thus from children to assist in rehabilitation in a more effective mariner.
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OBJECTIVE@#To explore the regulative effect of expression of VEGF gene in nasopharyngeal carcinoma, and to discuss the future application of microRNA in the gene therapy for nasopharyngeal carcinoma.@*METHOD@#We constructed the recombination miRNA plasmid vectors which target VEGF gene and plasmids were transfected into CNE-2 cells by using Lipofectamine 2000 Reagent. The VEGF mRNA and VEGF protein were detected by reverse transcriptase polymerase chain reaction (RT-PCR) and Western blotting respectively. WST-8 assay was used to determine the inhibitory effect of microRNA on cell growth. Stable cell lines and wild type CNE-2 cell line were inoculated to subcutis of nude mice to establish animal models. The tumor growth and volume were observed.@*RESULT@#After the transfection of CNE-2 cells , the expressions of VEGF mRNA and VEGF protein were down-regulated at different degree. Whereas, CNE-2 cell growth showed no change by observation of fluorescence microscopy, and cell proliferation was not inhibited in WST-8 assay. However, in vivo, growth of xenograft was inhibited in preliminary experiments of nude mice.@*CONCLUSION@#By miRNA plasmid constructed artificially, miRNA can effectively interfere nasopharyngeal carcinoma cells by down-regulating the expressions of VEGF gene, therefore can inhibit the growth of tumor xenografted in vivo. Future application of microRNA in the gene therapy of nasopharyngeal carcinoma might be expected.
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Animaux , Femelle , Humains , Souris , Lignée cellulaire tumorale , Thérapie génétique , Souris de lignée BALB C , Souris nude , microARN , Génétique , Tumeurs du rhinopharynx , Génétique , Métabolisme , Plasmides , Facteurs de croissance endothéliale vasculaire , Génétique , MétabolismeRésumé
OBJECTIVE@#To determinate the occurring frequency and mutational hot spot in Hunan province.@*METHOD@#Blood samples was obtained from 96 patients with nonsydromic hearing impairment in Hunan province. PCR and DHPLC techniques were used to screening for all the 21exon of SLC26A4. PCR samples which were abnormal for DHPLC screening were analyzed with direct sequencing. Sequencing results were analyzed in DNASTAR software.@*RESULT@#Fifteen of 96 patients were found to have SLC26A4 gene mutations, detection rate was 15 6 , for 3 examples were homozygous mutations, ten samples were complex heterozygous mutations and 2 were heterozygous mutations. Totally, sixteen base variations were found, including 10 types of known gene mutation were identified (S90L, S252P, IVS7-2A>G, T410M, N392Y, IVS10-12T>A, S448X, G497S, S517fs, H723R. Four types of novel gene mutation (S8X, A227P,C565fs, Y728H), one type of same sense mutation (c. 2182 T>C)and 1 type of polypeptide IVS11+47 T>C). IVS7-2A>G was the most common gene mutation , which 9 samples were identified with, and it's detection rate was 9.38% and 5.73% for all the mutant alleles. IVS11+47 T>C was the most common polypeptide, which 20 samples were detected.@*CONCLUSION@#IVS7-2A>G was the most common gene mutation type for nonsyndromic hearing impairment in Hunan province; 4 novel mutations which were detected in the study enriched SLC26A4 gene mutation spectrum of Chinese.
Sujets)
Adolescent , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Jeune adulte , Asiatiques , Génétique , Chine , Exons , Dépistage génétique , Perte d'audition , Génétique , Protéines de transport membranaire , Génétique , Mutation , Transporteurs de sulfateRésumé
OBJECTIVE@#To study a new surgical approach for cochlear implantation.@*METHOD@#We operated on 8 cadaver heads (16 side) use Suprameatal approach for cochlear implantation, describe related anatomic mark.@*RESULT@#The electrode is passed through the suprameatal tunnel, the EAC groove, the space underneath the chorda tympani between the malleal and the long process of the incus, and the cochleostomy. Angle between tunnel and temporal imaginary line is 28.0 degrees +/- 1.3 degrees in adult, 29.0 degrees +/- 1.7 degrees in children, the location of inserting electrode into cochleostomy is (1.31 +/- 0.13) mm to round window in adult, (1.19 +/- 0.12) mm in child.@*CONCLUSION@#The SMA approach is a safe technique, maintaining a safe distance to facial nerve and chorda tympani. So We should make right decision in clinic.