Clinical diagnosis and surgical management of 110 cases of facial nerve schwannomas / 中华耳鼻咽喉头颈外科杂志

Objective@#To elucidate the clinical behavior, causes of misdiagnosis, surgical management, and outcomes of facial nerve schwannomas (FNS).@*Methods@#A retrospective review in Chinese People′s Liberation Army General Hospital from January 1, 2002 to December 31, 2015 was carried out and evaluated 110 patients with FNS, including 50 males and 60 females, aged 16-67 years old. The appropriate surgical strategy was selected based on each patient′s clinical manifestations, facial nerve function, and imaging characteristics. After surgery, patients received follow-up visits to assess their facial nerve functions, with the effect of treatment compared to the reality before surgery. The Kruskal-Wallis H test was used to distinguish between the pre- and post-operation facial nerve functions in patients who had different facial nerve functions before the operations.@*Results@#110 cases of FNS mainly presented with facial paralysis, hearing loss, tinnitus, otalgia, dizziness, and facial spasm. 20 of the cases were misdiagnosed as Bell′s Palsy, 6 were mistaken for chronic otitis media/cholesteatoma with radical mastoidectomy, 3 were mistaken for Meniere′s disease, 1 was misdiagnosed as petrous bone cholesteatoma, and 4 were mistaken for acoustic neuroma. 81.8 % (90/110) of the patients had multiple segments of the facial nerve, including the vertical segment of the facial nerve, accounting for 65.5% (72/110), followed by the labyrinthine/geniculate segment, for 61.8% (68/110), and the horizontal segment, for 55.5% (61/110). The appropriate surgical approaches were chosed based on the sizes and scopes of the tumors evaluated by imaging: transmastoid approach in 73 cases, translabyrinthe approach in 14 cases, middle cranial fossa approach in 13 cases, retrosigmoid approach in 3 cases, transmastoid-middle cranial fossa approach in 3 cases, and transmastoid-neck approach in 4 cases, with all the patients undergoing a total/subtotal resection of the tumor. Eighty-seven patients had their facial nerves reconstructed. Among them, 6 received facial nerve end-to-end anastomosis, 55 received great auricular nerve graft, and 26 were subjected to facial nerve-hypoglossal nerve anastomosis. Because of long histories, facial muscle atrophies, or other reasons, the remaining patients were not received facial nerve reconstruction. The House-Brackmann(H-B) grading scale was used to evaluate the facial nerve function pre- and post-operation. Patients with better facial nerve functions and shorter history of facial paralysis before operation would get relatively better facial nerve function. The before and after operation comparisons revealed that the recovery of the facial nerve functions in patients with H-B Ⅰ-Ⅲ was better than the improvement in patients with H-B Ⅳ-Ⅴ. The difference was statistically significant (Kruskal-Wallis H test, H=8.508, P<0.05).@*Conclusions@#The diagnosis of patients with unknown facial paralysis, hearing loss, and tinnitus should take into account the possibility of FNS. CT and other imaging examinations of the temporal bone can avoid misdiagnosis and determine the tumor size and extent of lesions, as well as provide the basis for the choice of the surgical approach. After tumors have been completely resected, facial nerve reconstruction can be performed simultaneously, according to the defect of the nerve.

Petrous bone cholesteatoma: surgery approach and outcomes / 中华耳鼻咽喉头颈外科杂志

Objective@#To investigate the choice of surgical approach of petrous bone cholesteatoma (PBC)and surgical outcomes.@*Methods@#A retrospective study was performed on 90 patients diagnosed and treated for PBC from January 2000 to December 2014 by the Chinese People′s Liberation Army General Hospital otolaryngologists. According to Sanna′s classification, 40 out of the 90 cases were supralabyrinthine, five infralabyrinthine, four infralabyrinthine-apical, 25 massive and 16 apical. Five cases underwent transmastoid and retrolabyrinthine approach, translabyrinthine approach was performed on six patients, 19 cases underwent subtotal petrosectomy, seven cases underwent transotic approach, 41 cases underwent middle fossa approach, combined transmastoid/middle fossa approach was performed on 11 cases, translabyrinthine and sphenoid sinus approach were performed on one case. Supralabyrinthine cases mainly applied middle fossa approach (77.5%, 31/40) and combined transmastoid and middle-fossa approach(20.0%, 8/40). Combined transmastoid-retrolabyrinthine approach were applied for all the infralabyrinthine cases (100.0%, 5/5). Infralabyrinthine-apical cases mainly applied subtotal petrosectomy (75.0%, 3/4). Massive cases mainly applied subtotal petrosectomy (60.0%, 15/25), transcochlear approach (20.0%, 5/25), and translabyrinthine approach (16.0%, 4/25). Apical cases mainly applied middle fossa approach (62.5%, 10/16).@*Results@#Ninty percent (18/20) of the patients who had preoperative grade Ⅰ facial nerve function maintained in the postoperative period. Out of 90 cases, only 11 cases received open cavity, and the rest cases received cavityobliteration. There were three cases of recurrence, four cases of cavity infection, three cases of cerebrospinal fluid leakage, and one case of epidural hematoma, who all received surgeries.@*Conclusions@#Sanna′s classification should be used to classify different kinds of PBC cases, choose the best surgical approach for different cases, and preserve or repair facial function during removal of PBC, and thus reduce recurrence and complications.

A novel technique for simultaneous multi-gene mutation screening in 225 patients with nonsyndromic hearing loss / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>Using simultaneous multi-gene mutation screening to investigate the new method molecular epidemiological basis of 225 patients with nonsyndromic hearing loss in Tianjin, and verifying the for simultaneous multi-gene mutation screening.</p><p><b>METHODS</b>Two hundred and twenty-five patients with severe non-syndromic deafness from Tianjin CDPF and Association of the Deaf were included in the study. The single nucleotide polymorphisms scan, (SNPscan) technique was used for screening the 115 spots mutations in three common deafness-related genes (GJB2, SLC26A4, mtDNA 12S rRNA) of patients with nonsyndromic hearing loss in Tianjin. We verified the results by Sanger sequencing.</p><p><b>RESULTS</b>Among the 225 patients, there were 111 cases of deafness caused by mutation (49.3%). Using this method, up to 50% of the patients in our study were identified to have hereditary HL caused by mutations in the three genes. 56 patients with the GJB2 mutations were detected (24.9%), including 30 cases of homozygous mutations (13.3%), 26 patients (11.6%) of compound heterozygous mutations, and 21 cases (9.33%) of single heterozygous mutations. 50 patients with the SLC26A4 mutations were detected (22.2%), including 22 cases of homozygous mutations(9.8%), 28 patients (12.4%) of compound heterozygous mutations, and 22 cases (9.8%) of single heterozygous mutations. mtDNA 12S rRNA A1555G mutation was detected in 5 patients (2.2%). mtDNA 12S rRNA 1494C>T mutation was not detected. We verified the results by Sanger sequencing. The accuracy of the sequencing results was 100%. The SNPscan cost eight hours and 160 yuan (each sample).</p><p><b>CONCLUSIONS</b>Applying SNPscan technology can be accurate, rapid and cost-effective diagnostic screening in patients with hearing loss for etiology investigation. It is expected to become an effective means of large-scale genetic testing for hereditary deafness.</p>

Analyses of the clinical characteristics of unilateral conductive hearing loss with intact tympanic membrane / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of unilateral conductive hearing loss with intact tympanic membrane, and summarize the key diagnostic points, differential diagnosis and observe the effects of surgical treatment.</p><p><b>METHODS</b>We reviewed data from 82 patients with unilateral conductive hearing loss with intact tympanic membranes who accepted the exploratory tympanotomy from April 2011 to September 2013. There were 41 males and 41 females, aged from 7 to 66( averaged 26.5±13.7)years, with a history of one month to 50 years. The history, clinical symptoms, audiological evaluation, high resolution temporal bone CT, the results of surgical exploration and hearing reconstruction were analyzed.</p><p><b>RESULTS</b>The exploratory tympanotomy revealed 43 cases of congenital middle ear malformations (52.4%), 22 cases of otosclerosis (26.8%), eight cases of congenital cholesteatoma (9.8%), six cases of trauma induced conductive hearing loss (7.3%), three cases of congenital ossicular malformations with congenital cholesteatoma (3.7%). Progressive hearing loss was common in patients with otosclerosis and congenital cholesteatoma, and patients with congenital middle ear malformations described their hearing loss since childhood. High resolution temporal bone CT of congenital middle ear malformation, trauma induced conductive hearing loss, congenital cholesteatoma diagnosis rate was 40.0%, 50.0%, and 83.3% respectively. The preoperative air-conductive threshold of patients with absence of the oval window were increased to (66.9±1.1)dBHL, the preoperative bone-conductive threshold achieved (28.3±10.4)dBHL at 2 000 Hz. While patients with stapes fixation and that with ossicular chain discontinuity were (27.2±9.7)dBHL and (17.8±8.8)dBHL(P=0.000)respectively. Through the tympanic exploration with endaural incision under the microscope, different hearing reconstruction were applied according to different lesions. After the operation, the hearing level of 52 patients with return visit were improved, the mean air-conductive threshold were decreased from (60.0±11.4)dBHL to (32.2±12.1)dBHL(P=0.000); and the mean ABG were decreased from (43.2±12.0)dB to (16.3±9.4)dB(P=0.000).</p><p><b>CONCLUSIONS</b>Congenital middle ear malformations, otosclerosis, congenital cholesteatoma are the most common causes in unilateral conductive hearing loss with an intact tympanic membrane. The diagnosis rate can be improved by analyzing the clinical features. Through exploratory tympanotomy and hearing reconstruction, we can clarify the diagnosis and achieve a satisfying hearing recover.</p>

Meta-analysis on effectiveness of prelingually deaf patients at different ages following cochlear implantation / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To assess the clinical effeetiveness of prelingually deaf children after cochlear implantation at different ages so as to provide reasonable expectations for the patients and guidance for the clinical treatment.@*METHOD@#Electronic databases PubMed, YZ365. COM, WANFANG DATA, CMJD, CHKD, CNKI were searched using relevant keywords. Extracted data included author, year of publication, diagnosis, et al. Reported treatment outcomes were clustered into speech discrimination and hearing abilities. Meta-analyses were performed on studies with numerical results using random or fixed effects model.@*RESULT@#There were eight randomized control studies including 442 patients. Comparing speech perception of prelingually deaf children after cochlear implantation younger than three years old (experimental group) and 3-6 years old (control group), three and six months after operation showed that experimental group performed significantly worse than control group; 12 months after operation showed that experimental group performed significantly better than control group. Comparing hearing abilities, three and six months after operation showed that experimental group performed significantly worse than control group; 12 months after operation showed showed that experimental group performed significantly better than control group. Comparing speech perception of younger or older than 4. 5 years old children showed that after 1.5-2 years of operation children implanted younger than 4.5 years of age performed significantly better than children implanted older than 4.5 years old. Comparing speech perception of 7-12 years old children showed that after 3, 6, 12 months of operation patients of 7-12 years old performed significantly better than those children older than 12 years old. Comparing speech perception of implantation younger or older than 18 years old (7-14 yeas old was group A, > 14-18 yeas old was group B, older than 18 yeas old was group C) showed that after one and four years of operation A > B > C, and there were significant differences among them. Comparing warble tone threshold average (WTA) showed that after one year of operation A < B < C, and there were significant differences among them. However, after four years of operation, there was no significant difference among them.@*CONCLUSION@#Prelinguistically deafened patients younger than three years old with cochlear implantation, insisting on scienctific rehabilitation training for a long period of time can receive the optimal recovery effect. The older patients are suggested as early as possible receiving cochlear implantation. The longer they are implanted, the better results they will receive. Moreover, the younger age they are implanted, the faster postoperative language progress they will receive. Further controlled studies with longer follow-up periods and more person included may make the effectiveness of cochlear implantaion more reliable.

A new method for simultaneous multi-gene mutation screening in 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Using simultaneous multi-gene mutation screening to survey the molecular epidemiological basis of 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region, we can identify the causes of their deafness,and verify the new method for simultaneous multi-gene mutation screening.@*METHOD@#Three hundred and fifty-five patients with severe non-syndromic deafness from Inner Mongolia Autonomous regior were included in the study. The SNPscan technology was used for screening the 115 spots mutations in three common deafness-related genes(GJB2, SLC26A4, MT-12S rRNA) of patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region.@*RESULT@#In 355 patients, there were 89 cases of deafness caused by mutatior (25.07%). 53 patients with the GJB2 mutations were found(14.93%), including 24 cases of homozygous mutations (6.76%), 29 patients (8.17%) of compound heterozygous mutations, and 3 cases (0.85%) of single heterozygous mutations. 33 patients with the SLC26A4 mutations were found (9.30%), including 15 cases of homozygous mutations (4.23%),18 patients (5.07%) of compound heterozygous mutations, and 5 cases (1.41%) of single heterozygous mutations. mtDNA12S rRNA A1555G mutation was found in 6 patients (1.69%). mtDNA12S rRNA 1494C>T mutation was not found.@*CONCLUSION@#SNPscan technology allows accurate, rapid and cost-effective diagnostic screening in patients with hearing loss for etiology investigation. The SNPscan technology can serve as a good diagnostic tool for large-scale genetic testing for hereditary deafness and should be widely applied.

Causal analysis and management strategies of cerebrospinal fluid leakage following translabyrinthine approach for acoustic neuromas / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>The purpose of the report was to investigate the causes of CSF leakage and discuss the methods for prevention and management of CSF leakage following translabyrinthine resection of acoustic neuromas.</p><p><b>METHODS</b>A retrospective review of cerebrospinal fluid leakage following translabyrinthine approach for 152 acoustic neuromas patients, from January 1983 to December 2013, was performed. The cases were divided into two groups, traditional and modified closure techniques. The incidence of CSF leakage was compared between the two groups.</p><p><b>RESULTS</b>The incidence of postoperative CSF leakage by translabyrinthine approach was 5.9% (9/152), with four cases of rhinorrhea, two case of wound leakage, one case of rhinorrhea and otorrhea, one case of otorrhea, and one case of rhinorrhea and wound leakage. The CSF leakage incidence of traditional closure technique was 14.3% (5/35); the incidence of modified closure technique was 3.4% (4/117). After introducing a modified closure technique, the incidence of the CSF leakage significantly decreased.</p><p><b>CONCLUSIONS</b>As a common complication of translabyrinthine approach, the incidence of CSF leakage is closely related to the closure technique. The incidence of the CSF leakage should decrease dramatically when adopting the modified closure technique.</p>

Assessment of the curative effective of cochlear implantation in childer with GJB2-associated NSSNHL / 临床耳鼻咽喉头颈外科杂志

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.

Congenital cholesteatoma of middle ear: 20 patients' clinical symptoms and imaging features / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the location, staging, clinical symptoms, imaging features, and surgical treatment of the congenital cholesteatoma of middle ear (CCME).@*METHOD@#This was a retrospective review of 20 CCME cases.@*RESULT@#Of 20 cases with CCME, 2 cases were classified as Postic stage I, 0 as stage II, 13 as stage III, 5 as stage IV. Conductive hearing loss was the most common clinical symptom. The mean preoperative PTA was 54.1 dB, and the mean ABG was 41.7 dB. One case underwent a modified mastoidectomy and a second-stage ossicular reconstruction; 2 cases experienced a radical mastoidectomy without ossicular reconsturction for extensive cholesteatoma; 5 cases underwent modified mastoidectomy and a one-stage tympanoplasty, with one case diagnosed as congenital malformation of ossicular chain (stapes hypoplasia); other 12 cases underwent a one-stage tympanoplasty. The cholesteatoma localized to the posterior-epitympanum or mesotympanum in all patients, mainly located in the incudostapedial joint. The mean postoperative PTA from 16 cases was 35.3 dB, and A-B gap was 20.2 dB. All patients were followed-up for at least 1 year after operation and recurrence was found in 2 cases. Three cases were accompanied with congenital malformation of ossicular chain.@*CONCLUSION@#CCME is a rare entity and diagnosis is usually delayed in clinical practice due to the silent nature of disease in its early stage. The prognosis of CCME mainly depended on the stage of the lesions.

Meta-analysis of the efficacy of cochlear implantation in deaf patients with inner ear malformation / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Assess and compare the clinical efficacy and safety of cochlear implantation in deaf patients with inner ear malformation and in the ones with normal inner ear structure, so that to clarify whether it is effective to restore hearing for the deaf patients with inner ear malformation.@*METHOD@#The literature with relevant key words were retrieved in the databases including PubMed, YZ365. com, WANFANG data, CMJD, CHKD and CNKI with language limited to Chinese and English. Extracted data included author, year of publication, diagnosis, treatment, et al. The clinical efficacy of cochlear implantation was assessed by the complications, electrode impedance, behavior T-level, hearing abilities and speech discrimination. Meta-analysis was performed using random or fixed effects model according to the heterogeneity of data.@*RESULT@#There were 11 randomized control studies involving 655 patients included in this study. There was no statistically significant difference among the deaf patients in mixed inner ear-malformation group, Mondini group and large vestibular aqueduct syndrome group in the aspects of postoperative complications, electrode impedance, behavior T-level, hearing abilities and speech discrimination.@*CONCLUSION@#Cochlear implantation could be the way of treatment and rehabilitation for deaf patients with inner ear malformation. Further controlled studies with longer follow-up periods and more multiracial cases included may help to evaluate the efficacy of cochlear implantation for deaf patients with inner ear malformation more reliably.

Diagnosis and management of jugulare glomus tumor and carotid body tumor / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate diagnosis method and treatment experience of jugulare glomus tumor (JGT) and carotid body tumor (CBT).@*METHOD@#Retrospective analysis. Clinical materials from 4 patients at one genealogy with JGT and CBT were collected. The clinical features, radiological characteristics, surgical methods and prognosis were assessed. The proband suffered from left JGT and left CBT, her younger sister had right CBT as well as her younger female cousin had bilateral CBT and right JGT, her older male cousin had bilateral CBT and left JGT. These JGT and CBT in four patients were resected under general anesthesia after preoperative ultrasound, CT or CT angiography (CTA), MRI, and digital subtraction angiography (DSA) examination as well as preoperative vascular embolization.@*RESULT@#The surgery was uneventful in four cases, and there was no hemiplegia or deaths. All patients were followed up for 2 years to 29 months without recurrence. Six months after operation, the hoarseness also disappeared in the older male cousins but did not improve significantly in younger female cousin. The younger female cousin get right peripheral facial paralysis 1 year after surgery and her temporal bone CT indicated a right JGT.@*CONCLUSION@#It is very important to assess JGT and CBT by Ultrasound, CT, CTA, MRI and DSA. Surgical resection is the first optional treatment for JGT and CBT. Blood loss can be reduced by preop erative vascular embolization. Serious complications could be avoid by operating under microscope, which can supply a clear surgical field and make the surgeon to protect the large blood vessels and nerve.

Clinical characteristics and surgical management of extensive cholesteatoma of external auditory canal / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To classify the external auditory canal cholesteatoma(EACC) by high-resolution temporal bone CT scans and the clinical findings of the patients, and to discuss the clinical and imaging characteristics and the surgical management of the extensive EACC.@*METHOD@#A retrospective study was carried out among 56 patients (58 ears) with EACC and their clinical data were carefully analyzed. We classified EACC as the extensive type and the localized type. The operation strategy depended on the extent of lesion. All cases were followed up for 1 to 6 years after surgery.@*RESULT@#There were 31 patients with localized EACC, 2 with no bone erosion and 29 (31 ears) with bone erosion within external auditory canal, and 25 patients with extensive EACC, 16 with bone erosion of intra temporal bone and 9 with bone erosion of extra temporal bone. Among all the 25 patients with the extensive type, the most common symptoms were otorrhea, otalgia and hearing loss, with 25, 23, 22 cases, respectively. The tympanic membrane (TM) was intact in 23 patients and perforated in two. The mastoid air cells in 23 patients were involved by the lesion, as well as tympanic antrum in eight, tympanic cavity in two, sigmoid sinus bony wall in five, mastoid segment of facial canal in four, and temporomandibular joint in two patients. Twenty patients underwent modified radical mastoidectomy, only one underwent reconstruction of ossicular chain, and four underwent canaloplasty. The average time of ear dry after surgery was 29 days. The postoperative hearing was improved by an average of 15 dB. No recurrence except for one patient was found during the follow-up period.@*CONCLUSION@#It was of important clinical significance to classify EACC as the extensive type and the localized type. The extensive EACC was misdiagnosed easily because of the complicated clinical manifestations. The classification was helpful for the diagnosis and the selection of surgery strategy of EACC.

Speech and pitch perception with the new fine structure speech coding strategy / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To assess the performance of the new fine structure processing strategy(FS4) compared to the previous generation coding strategy HDCIS.@*METHOD@#Twelve post-lingual hearing-impaired cochlear implant users were included. FS4 and HDCIS were compared in music pitch perception and speech perception test.@*RESULT@#Acute comparison between FS4 and HDCIS showed that FS4 performed as well as HDCIS in speech perception tests, and outperformed HDCIS in music pitch perception.@*CONCLUSION@#Results indicate that FS4 performs better than HDCIS in music perception. Differences between the two strategies were not significant for speech test.

The Surgical Treatment of the Mixed Hearing Loss / 听力学及言语疾病杂志

Objective To summarize and analyze the pathogenesis ,methods of hearing reconstruction and curative effect of mixed hearing loss .Methods Patients with mixed hearing loss who underwent hearing reconstruc-tion from Jan 2009 to Dec 2011 in the ENT department of PLA General hospital were reviewed retrospectively .Af-ter the operation ,air conduction (AC) ,bone conduction (BC) ,air-bone gap (ABG) at main frequencies and audi-ometry changes were analyzed .Results Among 32 cases ,15 cases were chronic otitis media ,13 cases otosclerosis , 2 cases Van der Hoeve ,and 2 cases congenital middle ear malformations .There were 26 cases with significantly im-proved hearing after surgery ,and the effective rate was 81 .25% .AC showed great improvement at 0 .25~4 kHz (P0 .05) .BC showed improvements at 1 and 2 kHz and improved significantly only at 2 kHz .After operation ,pure tone audiometry at AC and BC separately improved 24 .94 ± 8 .15 dB and 5 .90 ± 7 .96 dB;ABG narrowed down to 19 .04 ± 11 .06 dB .Conclusion Mixed hearing losses are mostly seen in chronic otitis media and tympanosclerosis .After auditory rehabilitation ,patients can experience improved hearing .

Clinical and genetic features of a large Chinese family with nonsyndromic autosomal dominant hearing loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.@*METHOD@#Pedigree was drawn after investigation. Fifeteen family members were checked up, and detailed audiological examination was performed.@*RESULT@#The proband of the kindred had been diagnosed with senserineural hearing loss. A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained. The inheritance pattern of this family is autosomal dominant based on the investigated information. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing impairment. The age of onset varied from 20 to 35 years. The hearing loss began at high frequencies, and lower frequencies became involved with increasing age.@*CONCLUSION@#Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family. The information should facilitate linkage analysis and positional cloning for the causative gene of this family.

Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene.@*METHOD@#The medical history was taken, and general physical examinations and otological examinations were conducted in this patient. Genomic DNA was extracted from this patient and his parents and complete TCOF1 gene coding exons were amplified by specific PCR primers. Direct sequencing was carried out to identify the mutations. The raw data was analyzed with GeneTool software and molecular biological website.@*RESULT@#We detected a heterozygous c. 1639 delAG mutation in exon 11 of TCOF1, which resulted in a truncated protein lacking normal function. This mutation is a novel mutation and the second case identified in exon 11 of in TCS.@*CONCLUSION@#TCS patient reported in this study has unique clinical phenotype. TCOF1 gene mutation is the specific risk factor.

Genetic and audiological characters of a Chinese family with non-syndromic hereditary hearing loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the phenotype and genetic characters of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.@*METHOD@#A Chinese pedigree associated with an autosomal-dominant inherited high-frequency sensorineural hearing loss was investigated. After obtaining informed consent from all study participants medical and audiological examination to rule out any syndromic hearing impairment. Application of microsatellite markers on DFNA 21 loci preliminary screening of 23 genes, data were analyzed by linkage analysis.@*RESULT@#Proband of the family had been diagnosed with high-frequency sensorineural hearing loss. A Chinese family SX-H043 with non-syndromic hearing loss were ascertained. This Chinese family with late onset hearing impairment spanned four generations and comprised 43 members. The mode of inheritance of the families should be autosomal dominant according to the pedigree. Hearing impairment of affected members in family SX-H043 occurred 25 to 50 years descending audiograms. Whole frequencies became involved with increasing age.@*CONCLUSION@#A Chinese family with late-onset high-frequency sensorineural hearing loss were clinically studied. Positive sites were not found in the known deafness loci screening. The information should facilitate future gene scan and linkage analyses for novel relative genes contributing to high-frequency sensorineural hearing loss.

Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analysis the characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss in detail.@*METHOD@#A detailed family history and clinical data were collected. The Chinese pedigree is an autosomal-dominant inherited hearing loss. The data of audiological examination about genetic characteristics was analysed. The relationship between the hearing-impaired of this family and age was contrasted.@*RESULT@#This Chinese family spanned five generations and comprised 42 members. The mode of inheritance of the families should be autosomal dominant according to the pedigree. Pure-tone audiograms showed a so-called Z shape curve. The hearing loss is sensorineural, progressive and beginning at the high frequencies. The audiograms were fairly symmetric. Whole frequencies became involved with increasing age.@*CONCLUSION@#The Chinese family with the DFNA5 mutation was an autosomal dominant pedigree. In this family, non-syndromic symmetric hearing impairment was severest at the high frequencies early, and gradually accumulated all frequencies of hearing. A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment. It should take into account DFNA5 mutation which the audiogram of a genetic hearing impaired has the same feature.

Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the positive rate of common genetic mutations in Chinese non-syndromic sensorineural hearing loss groups with different hearing phenotype.@*METHOD@#One thousand four hundred and forty-eight subjects with hearing test results received at least one of three genetic testings including: mutations in coding region of GJB2 and SLC26A4 with sequencing analysis and mitochondrial DNA C1494T/A1555G with microarray detection. Of 1448 subjects, 1333 have bilateral sensorineural hearing loss, 65 have unilateral hearing loss and 50 have normal hearing threshold even though they have high frequency hearing loss or family history. The informed consent of each subject was achieved.@*RESULT@#Mutation positive rate of GJB2, SLC26A4 and mtDNA C1494T/ A1555G of 1448 subjects were 19.23%, 27.55%, 0.1% and 1.72% respectively. The positive rate of GJB2 and SLC26A4 mutations in bilateral hearing loss group (20.22%, 29.17%) was statistically significantly higher than unilateral group (0, 0) (P < 0.01). In bilateral hearing loss group, the positive rate of GJB2 mutations was highest in the profound group (24.67%), and then severe (22.33%), moderate (14.33%) and mild group (6.58%) (P < 0.01). The positive rate of SLC26A4 mutations was highest in the severe group (48.67%), and then profound (28.42%), moderate (21.16%) and mild (8.93%) (P < 0.01).@*CONCLUSION@#The positive rate of GJB2 and SLC26A4 mutations is high in the groups with bilateral profound and severe sensorineural hearing loss, whose genetic testing should be put emphasis on. However, the genetic testing should be performed in patients with mild to moderate hearing impairment as well if necessary.

Cochlear implantation with pericanal electrode insertion technique / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the surgical technique of the pericanal electrode insertion technique for ies cochlear implantation.@*METHOD@#Forty cases of sensorineural deafness were subjected to the ies cochlear implants. Cochleostomy was performed through the external auditory canal with a microdrill anterior to the round window. The electrode impedance and electrically auditory brainstem responses(EABR) were tested during the operation. The X-ray photographs were taken after the operation. The cochlear implant was activated in all 40 cases 4 weeks following surgery.@*RESULT@#All of the electrodes were inserted and all of the implants worked well. No electrode extrusions or serious surgical complications happened during postoperative observation for 6 months.@*CONCLUSION@#The pericanal electrode insertion technique is a safe approach for ies cochlear implantation.