Differential diagnosis and surgical management in chondrosarcoma of the jugular foramen / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the diagnosis, surgical management and outcome of jugular foramen chondrosarcoma (CSA). Methods: Fifteen patients with jugular foramen CSA hospitalized in the Department of Otorhinolaryngology Head and Neck Surgery of Chinese PLA General Hospital from December 2002 to February 2020 were retrospectively collected,of whom 2 were male and 13 were female, aging from 22 to 61 years old. The clinical symptoms and signs, imaging features, differential diagnosis, surgical approaches, function of facial nerve and cranial nerves IX to XII, and surgical outcomes were analyzed. Results: Patients with jugular foramen CSA mainly presented with facial paralysis, hearing loss, hoarseness, cough, tinnitus and local mass. Computed tomography (CT) and magnetic resonance (MR) could provide important information for diagnosis. CT showed irregular destruction on bone margin of the jugular foramen. MR demonstrated iso or hypointense on T1WI, hyperintense on T2WI and heterogeneous contrast-enhancement. Surgical approaches were chosen upon the sizes and scopes of the tumors. Inferior temporal fossa A approach was adopted in 12 cases, inferior temporal fossa B approach in 2 cases and mastoid combined parotid approach in 1 case. Five patients with facial nerve involved received great auricular nerve graft. The House Brackmann (H-B) grading scale was used to evaluate the facial nerve function. Preoperative facial nerve function ranked grade Ⅴ in 4 cases and grade Ⅵ in 1 case. Postoperative facial nerve function improved to grade Ⅲ in 2 cases and grade Ⅵ in 3 cases. Five patients presented with cranial nerves Ⅸ and Ⅹ palsies. Hoarseness and cough of 2 cases improved after operation, while the other 3 cases did not. All the patients were diagnosed CSA by histopathology and immunohistochemistry, with immunohistochemical staining showing vimentin and S-100 positive, but cytokeratin negative in tumor cells. All patients survived during 28 to 234 months' follow-up. Two patients suffered from tumor recurrence 7 years after surgery and received revision surgery. No complications such as cerebrospinal fluid leakage and intracranial infection occurred after operation. Conclusions: Jugular foramen CSA lacks characteristic symptoms or signs. Imaging is helpful to differential diagnosis. Surgery is the primary treatment of jugular foramen CSA. Patients with facial paralysis should receive surgery in time as to restore the facial nerve. Long-term follow-up is necessary after surgery in case of recurrence.

Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the phenotypic-genotypic characteristics of hereditary deafness caused by OTOA gene variations. Methods: Family histories, clinical phenotypes and gene variations of six pedigrees were analyzed, which were diagnosed with hearing loss caused by OTOA gene variations at the PLA General Hospital from September 2015 to January 2022. The sequence variations were verified by Sanger sequencing and the copy number variations were validated by multiplex ligation-dependent probe amplification (MLPA) in the family members. Results: The hearing loss phenotype caused by OTOA variations ranged from mild to moderate in the low frequencies, and from moderate to severe in the high frequencies in the probands, which came from six sporadic pedigrees, among which a proband was diagnosed as congenital deafness and five were diagnosed as postlingual deafness. One proband carried homozygous variations and five probands carried compound heterozygous variations in OTOA gene. Nine pathogenic variations (six copy number variations, two deletion variations and one missense variation) and two variations with uncertain significance in OTOA were identified in total, including six copy number variations and five single nucleotide variants, and three of the five single nucleotide variants were firstly reported [c.1265G>T(p.Gly422Val),c.1534delG(p.Ala513Leufs*11) and c.3292C>T(p.Gln1098fs*)]. Conclusions: OTOA gene variations can lead to autosomal recessive nonsyndromic hearing loss. In this study, the hearing loss caused by OTOA defects mostly presents as bilateral, symmetrical, and postlingual, and that of a few presents as congenital. The pathogenic variations of OTOA gene are mainly copy number variations followed by deletion variations and missense variations.

Early effect of extracorporeal membrane oxygenation and factors related to early outcome in adult patients with fulminant myocarditis / 中华心血管病杂志

Objective: To evaluate the efficacy within the first 24 h post extracorporeal membrane pulmonary oxygenation (ECMO) and the impact of early efficacy on the prognosis of adult patients with fulminant myocarditis (FM). Methods: This retrospective case analysis study included hospitalized patients (age≥18 years) who were diagnosed with fulminant myocarditis from November 2016 to May 2021 in the First Affiliated Hospital of Zhengzhou University. Patients were divided into survival or non-survival groups according to treatment outcomes. The age, sex, treatments, drug use, ECMO use, clinical and laboratory data (before and 24 h after the use of ECMO) were analyzed. The change rate of clinical and laboratory data after 24 h use of ECMO was calculated to find differences between two groups. Multivariate logistic regression was used to analyze the related factors with in-hospital death and complication between the two groups. Results: A total of 38 FM patients treated with ECMO were included. There were 23 cases (60.5%) in the survival group, aged (39.6±13.7) years, and 17 (73.9%) cases were female. The total ECMO time was (134.4±71.3)h. There were 15 cases (39.5%) in non-survival group, aged (40.0±15.8) years, and there were 12(80.0%) female, the ECMO time was (120.1±72.4) h in this group. The proportion of tracheal intubation and continuous renal replacement therapy in the survivor group and dosage of norepinephrine within 24 h after ECMO implantation were significantly less than in non-survival group (all P<0.05). There was no significant difference in all efficacy related biochemical indexes between two groups before ECMO use. The levels of lactic acid, procalcitonin, creatinine, alanine aminotransferase, aspartate aminotransferase, creatine kinase-MB, cardiac troponin I and N-terminal B-type natriuretic peptide prosoma were significantly less in survival group than in non-survival group at 24 h after the use of ECMO (all P<0.05). Results of multivariate logistic regression analysis showed that the higher 24 h change rate of creatinine (OR=0.587, 95%CI 0.349-0.986, P=0.044) and creatine kinase-MB (OR=0.177, 95%CI 0.037-0.841, P=0.029) were positively correlated with reduced risk of in-hospital mortality. The central hemorrhage and acute kidney injury in survival group were less than in non-survivor group (P<0.05). Conclusions: After 24 h early use of ECMO in FM patients, the improvement of various efficacy related biochemical test indexes in the survival group was better than that in the non-survival group. Faster reduction of creatine kinase-MB and creatinine values within 24 h ECMO use is positively correlated with reduced risk of in-hospital mortality in adult patients with FM.

Analysis of COL1A1 gene variation and clinical prevention and treatment in patients with Van der Hoeve syndrome / 中华耳鼻咽喉头颈外科杂志

Objective: To investigate the clinical phenotype, treatment and prevention of Van der Hoeve syndrome, and analyze the variation characteristics of its related gene COL1A1. Methods: Hearing and sequencing data of syndromic deafness patients who had undergone genetic testing for deafness at the Chinese People's Liberation Army General Hospital since January 2008 to October 2020 were retrospectively reviewed. The variation of the COL1A1 gene and return visits to traceable patients and families were summarized, the disease progress and clinical treatment effects were analyzed, and the prevention strategies were discussed. Results: A total of 7 patients with COL1A1 gene mutation underwent clinical intervention. The mutation sites were c.1342A>T (p.Lys448*), c.124C>T (p.Gln42*), c.249insG(p.Ala84*), c.668insC(p.Gly224*), c.2829+1G>C, c.1081C>T (p.Arg361*), c.1792C>T (p.Arg598*), of which c.1081C>T and c.1792C>T had been previously reported, and the remaining 5 were novo mutations that have not been reported. All the 7 probands underwent stapes implantation and received genetic counseling and prevention guidance. Conclusions: Van der Hoeve syndrome belongs to osteogenesis imperfecta type Ⅰ. The disease has high penetrance. Timely surgical intervention for hearing loss can improve the life quality in patients. Accurate genetic counseling and preimplantation genetic diagnosis can achieve the primary prevention for the disease.

Reconstruction of complex tissue defects in temporal region: report of 3 cases / 中华耳鼻咽喉头颈外科杂志

Objective: To discuss the techniques and repairing methods of various degree of compound tissue defects in the auriculotemporal region. Methods: Retrospective analysis was conducted on three cases of different repairing methods for huge compound tissue defects in different degrees in the auriculotemporal region after the resection of the malignant tumor or sinus tract due to repeated infection in our hospital. Results: Following total removal of the tumors or sinus tract in all patients, we applied retroauricular lingual flap transfer repairing, latissimus dorsi flap free transfer repairing and vascular anastomosis, scalp tissue expansion in stage Ⅰ, then repairing the lesion with expanded scalp and filling the huge mastoid cavity with abdominal fat in stage Ⅱ, respectively, according to the characteristics of compound tissue defects in the auriculotemporal region. All free flaps survived well. Conclusions: The anatomy of the auricular-temporal area is complex and involves important vascular and neural structures of head and neck and lateral skull base. The huge composite tissue defect following auriculotemporal region surgery, which is composed of skin, muscle and bone tissue, needs to be repaired in one stage. Therefore, flexible repairing methods should be chosen based on different situations, for attaining the goal of completely removing tumor and lesions, and then, covering the operation cavity.

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.

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>

Study on 2,747 cases of inner ear malformation for its classification in patient with sensorineural hearing loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#Analyze the data of the patients with sensorineural hearing loss in China and study the classification and incidence of inner ear malformationsby the high-resolution computed tomography.@*METHOD@#The investigation took a retrospective review of CT findings relating to the 2,747 cases of outpatients. The inner ear malformations diagnosed by CT were classified according to the methods proposed by Sennaroglu.@*RESULT@#(1)843 cases of inner ear malformations were found in 2747 cases of patients with sensorineural hearing loss by CT examination. The incidence of inner ear malformation was 30.69%(843/2747). (2) The epidemiological information of 843 cases of inner ear malformation according to Sennaroglu's classification was as follows: cochlea was 52. 31%(441/843), simple vestibular aqueduct was 40.33%(340/843), simple vestibular/ semicircular canal/internal auditory canal were 7. 35%(62/843) of the group. (3) 441 cases of cochlea malformation were consisted of these types of malformation: Michel deformity was 1.13% (5/441), cochlear aplasia was 1. 81% (8/441), common cavity deformity was 3. 17% (14/441), incomplete partition type I was 8. 62% (38/441), cochlea hypoplasia was 9. 07% (40/441) and incomplete partition type II was 76. 19% (336/441) of the group.@*CONCLUSION@#The results suggested that 30. 69% cases of inner ear malformation can be found in patients with sensorineural hearing loss, which is more higher than reported by the high-resolution computed tomography. Sennaroglu's classification is instructively significant in investigating the status of inner ear malformations.

The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype / 临床耳鼻咽喉头颈外科杂志

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.

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.

Audiological Characteristics in 832 Deaf Children with Biallelic Causative Mutations in GJB2,SLC26A4 Gene / 听力学及言语疾病杂志

Objective To determine the audiological characteristics in 832 deaf children with biallelic causative mutations in GJB2 ,SLC26A4 gene .Methods The 832 patients received deafness gene screening ,553 were GJB2 gene biallelic causative mutations ,279 were SLC26A4 gene biallelic causative mutations .Patients were divided into four groups according to ages of hearing loss onset :<1 ,1~3 ,3~6 ,6~12 years old ,and the audiological character-istics and prevalence of GJB2 ,SLC26A4 gene mutations at different ages of onset .Results The prevalence of GJB2 gene mutations at four groups was 37 .97% (210/553) ,38 .34% (212/553) ,16 .27% (90/553) ,7 .41% (41/553) ,re-spectively ;the prevalence of SLC26A4 gene mutations at four groups was 25 .45% (71/279) ,44 .80% (125/279) , 20 .07% (56/279) ,9 .67% (27/279) ,respectively .The difference between GJB2 and SLC26A4 gene was significant(P=0 .001) .The prevalence of profound hearing loss with GJB2 gene mutations at four groups were 66 .67% (140/210) ,61 .32% (130/212) ,47 .78% (43/90) ,41 .46% (17/41) ,respectively .The difference was significant (P=0 .004) ,while the difference in 279 patients with SLC26A4 gene mutations was not statistically significant (P= 0 . 083) .Conclusion The age of hearing loss onset in patients with biallelic causative mutations in GJB 2 or SLC26A4 gene refers to 0~3 years -old ,hearing loss in patients with GJB2 ,SLC26A4 gene mutations gives priority to pro-found .The age of hearing loss onset is smaller ,the ratio of profound hearing loss is higher .Patients with severe and profound hearing impairment should be performed the genetic testing when the age of onset under 12 .

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>

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.

Diagnosis and treatment of complicated foreign bodies in the middle ear (5 cases reported) / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the sources of foreign bodies in the middle ear, and to analyze experience and lessons of clinical diagnosis and therapy.@*METHOD@#Five cases of foreign bodies in the middle ear with general information presenting to our department and receiving surgical treatment were reviewed retrospectively.@*RESULT@#The foreign bodies of 4 cases were inserted by trauma, while 1 case by iatrogenic injury. The remain of foreign bodies result in symptoms such as otorrhea and hearing loss, and long-term foreign bodies in the middle ear might cause mental effects. All 5 patients received surgical intervention under general anesthesia to remove the foreign bodies. We found that the foreign bodies of 3 cases located in the mesotympanum, 1 located in the epitympanum and the aperture of the eustachian tube, 1 located in the squamous portion of the temporal bone and the gas room of lateral wall of epitympanum.@*CONCLUSION@#Foreign bodies in the middle ear are prone to be missed diagnosed and misdiagnosed. Careful specialized examination is appreciated. Patients who are suspected with foreign bodies in the middle ear should regularly take temporal bone HRCT scan. Foreign bodies could be removed by surgery when a definite diagnosis is made.

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 .

Genetic testing and mutation analysis for the cochlear implantation children and their normal auditory phenotype parents / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the characteristics and significant of mutations of GJB2 gene, SLC26A4 gene and mitochondrial 12S rRNA in deaf children who received cochlear implantation (CI) in Yunnan and to provide the data for diagnoses and research of recovery in C1 children.@*METHOD@#Genomic DNA was extracted from the peripheral blood samples collected from 46 children and their parents (110 cases). All the children received the CI. Their parents had normal auditory phenotype. PCR was performed and the products were sequenced by automated DNA sequencer to detect the hot spots of mutations.@*RESULT@#The detection rates of GJB2 235delC (13.0%) and 109G>A (24.0%) mutations were significantly higher than other mutations. SLC26A was the secondary major mutation (13.0%). We found out that no patient carried the mitochondrial 12S rRNA mutations. Leukoencephalopathy, hyperbilirubinemia and hypoxic-ischemic injure were disclosed in 7 patients (15.2%). The rate of mutations in parents was 36.0% (23/64). There had no difference between Han and other racial minorities (P>0.05).@*CONCLUSION@#The CI recipients in Yunnan with a high frequency of 235 delC and 109 G>A mutation, IVS7-2A>G (6.5%) is also a common mutation related hearing loss; aminoglycoside antibiotics may not be the main reason which induced congenital deaf in CI children; environment facts was suggested to contribute another important cause. The hot-spots gene screening for the C1 children could offer an accurate genetic counseling for early diagnosis and treatment, it also provide evidences for the clinical analysis between mutations and curative effect.

Epidemiological studies on mtDNA 12S rRNA A1555G mutation of 10 non syndromic hearing loss families in Yunnan province / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the meaning of the mutation screening, prevalence, inheritance and the intervention or the prevention for the specific drugs in 10 families with non-syndrome hearing loss in Yunnan Province, China.@*METHOD@#To do a questionnaire about the cases of ten families with non-syndrome hearing loss and to draw a detailed matriarchal family tree detailed. Following that, the A1555G mutation-positive individuals were detected and confirmed using DNA extracting, PCR amplification and sequencing for family volunteer.@*RESULT@#There are 96 members have attended the blood collection in these ten families. Thirty-six of them had the normal hearing and 60 of them had the sensory neural hearing loss. However, 4 out of those had no A1555G point mutation, and 92 had A1555G point mutation (95.8%). While 7 of those were Heterogeneity, the rest were all homogeneous mutation. There were also 73 patients who had amino glycoside antibiotic medication history. However all the rest cases had a history of amino glycoside antibiotic medication were not clear yet.@*CONCLUSION@#The proportion of patients with drug-induced deafness is high in Yunnan province and the mutation rate of mitochondrial DNA A1555G is also high. It is worthy to do DNA 12SrRNA A1555G mutation screening for drug intervention and prevention.

PCR-GeneScan technique for detection of the GJB2 235 delC and mtDNA A1555G mutations for hereditary hearing loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To develop a molecular genetic assay to detect the GJB2 235 delC and mtDNA A1555G mutations simultaneously based on fluorescent labeled multiplex PCR and automatic DNA fragment analyzing techniques.@*METHOD@#One hundred and twenty samples were pooled in our experiment to test the feasibility of new method. The PCRs were performed and the size fragment of PCR products were analyzed on ABI 3100 Genetic Analyzer. Data analysis were taken using the software package of GeneScan and GeneMarker.@*RESULT@#Seventeen samples of DNA with 235 delC and 17 samples with A1555G were tested using this protocol. A false-positive sample without GJB2 235 delC mutation was tested.@*CONCLUSION@#This assay can detect both mutations in pooled DNA tests and will be a useful tool for newborn screening and carrier screening for the hereditary hearing loss in Chinese population.

Prenatal genetic test and clinical guidance for 213 hereditary deaf families / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To summarize the workflow, strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice.</p><p><b>METHODS</b>There were 213 families who received prenatal test from 2005 to 2011. Among the 213 families, 205 families had had one deaf child, including 204 couples with normal hearing and one couple of the deaf husband and normal wife, 8 families including 6 couples with normal hearing and 2 deaf couples, had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood. The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2, SLC26A4 and mtDNA 12sRNA, but one family carried POU3F4 c.647G > A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study. The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks, and the following genetic information and counseling were supplied based on the results.</p><p><b>RESULTS</b>The recurrent risk was 25% in 209 families, including 204 families with one deaf child and 5 families without child, among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50% in 3 families, the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation, the wife had POU3F4 c.647G > A heterozygous mutation in another one family, and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100% in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations, and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank. 226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice, and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents. The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test.</p><p><b>CONCLUSIONS</b>Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition, and the normative workflow and precise strategy highly guarantee the safe and favorable implementation of prenatal diagnosis.</p>