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.

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.

Clinical analysis of bilateral same-day myringoplasty for 22 cases with bilateral tympanic membrane perforation / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the feasibility of bilateral same-day myringoplasty and the indications for myringoplasty for patients with bilateral tympanic membrane perforation, and to summarize relevant experience.</p><p><b>METHODS</b>Twenty-two patients underwent bilateral same-day underlay myringoplasty, and all cases were consistent with the indications for myringoplasty. The preoperative hearing and postoperative hearing at three months were compared, and the postoperative symptoms and complications were observed. Forty patients underwent monaural myringoplasty as the control group over the same period. All cases were followed up for 1 - 3 years.</p><p><b>RESULTS</b>The postoperative hearing was increased by an average of 18 dB, and the rate of closure of tympanic membrane perforation was 93.2% (41/44). There were seven patients with ear fullness after operation in the bilateral myringoplasty group and two patients in the control group (χ(2) = 4.5374, P = 0.0332). There were no differences in the postoperative hearing improvement, the rate of closure and the rates of other discomfort symptoms except for ear fullness between the two groups (P > 0.05).</p><p><b>CONCLUSION</b>It was feasible and safe to perform bilateral same-day myringoplasty for bilateral tympanic membrane perforation, but the postoperative temporary discomfort of bilateral ear fullness should be informed the patients in advance.</p>

Math1 gene therapy for kanamycin and furosemide-induced deaf guinea pigs / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To observe the morphology and function changes of cochlear hair cells before and after math1 gene injection into the cochlea of deaf guinea pigs which were induced by kanamycin and furosemide. To explore the feasibility of Math1 gene for medicine-induced deafness therapy.</p><p><b>METHODS</b>Kanamycin (500 mg/kg) and furosemide (50 mg/kg) were given to the healthy adult guinea pigs intramuscularly and intravenously to establish the deafness model. The guinea pigs whose auditory brainstem response (ABR) threshold > 95 dB SPL were randomly divided into five groups. Blank control group (without any treatment, n = 3), operation control group (right ear scala tympani operation, n = 3), artificial perilymph group (right ear scala tympani injection artificial perilymph, n = 3), virus vector group [right ear scala tympani injection adenovirus which carrying enhanced green fluorescent protein (EGFP) gene (Ad. EGFP) , n = 4], Math1 gene therapy group [right ear scala tympani injection adenovirus which carrying Math1 and EGFP gene (Ad. Math1-EGFP), n = 6]. Each animal received ABR test before and after injection. The cochlear tissue was observed by scanning electronic microscopy.</p><p><b>RESULTS</b>The ABR thresholds of tone burst( 4, 8, 16, 20 kHz ) were not statistically significant in different groups (P > 0.05). The number of hair cells increased in some of severe deaf guinea pigs after the injection of Ad. Math1-EGFP gene. However, there was no obvious difference with morphology and numbers of cochlea hair cells in other groups.</p><p><b>CONCLUSIONS</b>The injection of Math1 gene to cochlea can regenerate or repair the hair cells of medicine-induced deaf guinea pigs, but there was no improvement on the hearing loss.</p>

Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>Endolymphatic sac tumors (ELSTs) are rare in the general population with much higher prevalence in von Hippel-Lindau(VHL) disease. The purpose of this study is to present two cases of endolymphatic sac tumor with VHL disease with analysis of VHL gene and to explore their association with VHL disease using molecular analysis.</p><p><b>METHODS</b>Clinical data of these two patients from different VHL families were studied. DNAs extracted from peripheral bloods were amplified by the polymerase chain reaction using oligonucleotide primers corresponding to the VHL gene, then compared the mutations with the Human Gene Mutation Database.</p><p><b>RESULTS</b>In case 1, 6 family members were enrolled in the study. Among them, three had been identified to have a germline missense point mutation at codon 194 of the VHL gene exon 1 (p.S65W). The little sister of the patient (case 1) underwent vitrectomy for retinal hemangioblastoma 5 years ago in another hospital. The mother of the patient (case 1) was further diagnosed to have a cerebellar hemangioblastoma and renal carcinoma in the following physical examination. Case 2 with her parents were also tested. Codon 499 of the VHL gene exon 3 (p.R167W) were detected in case 2 and her mother, but the mother refused further examination.</p><p><b>CONCLUSIONS</b>The genetic diagnosis plays an important role in early detection of symptomatic patients and suspected patients. Clinical screening for members of the VHL families, and close follow-up of carriers allow an early detection of tumors and the metastasis, which is the most common cause of death of these patients.</p>

Surgical management and prognosis of iatrogenic peripheral facial nerve injury following middle ear surgery / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the causes, sites, management strategies and curative effects of accidental facial nerve paralysis in the middle ear surgery.</p><p><b>METHODS</b>Forty two cases with peripheral facial nerve paralysis following middle ear surgery who underwent surgical exploration and reanimation were analyzed. Facial nerve decompression, primary end-to-end anastomosis, interpositional nerve grafts with the great auricular nerve and nerve substitution of facial-hypoglossal anastomosis were applied to restoration of the facial nerve function. The facial nerve function was graded according to House-Brackmann (HB) Grade.</p><p><b>RESULTS</b>The most common operation complicating iatrogenic facial nerve injury was mastoidectomy, and the common sites of the injured facial nerve were the tympanic segment and pyramid segment. The facial nerve exploration showed facial nerve edema in nine cases (21.4%), injury of the facial nerve sheath was observed in 10 cases (23.8%), partial nerve fibers transection was found in four cases (9.5%), total nerve fibers transection was detected in 17 cases (40.5%) and two cases (4.8%) with facial nerve anatomical integrity. Facial nerve re-animation methods include facial nerve decompression in 24 cases (57.1%), end-to-end anastomosis in two cases (4.8%), end-to-end anastomosis after nerve transfer in two cases (4.8%), interpositional nerve grafts with the great auricular nerve in 10 cases (23.8%) and facial-hypoglossal nerve anastomosis in four cases (9.5%). The facial nerve function was graded according to House-Brackmann Grade before and after surgery. Twenty eight patients were followed up more than one year. For the 17 cases who received facial nerve decompression, four cases recovered to House-Brackmann Grade I, 11 cases recovered to House-Brackmann Grade II, two cases recovered to House-Brackmann Grade III. For the five cases who underwent the great auricular nerve grafting, three cases recovered to House-Brackmann Grade II, two cases recovered to House-Brackmann Grade III. For the four cases who received facial-hypoglossal nerve anastomosis recovered to House-Brackmann Grade III. For the two cases who underwent the end-to-end anastomosis recovered to House-Brackmann Grade II.</p><p><b>CONCLUSIONS</b>The tympanic segment and pyramid segment are more vulnerable to be injured during mastoid surgery. The injured facial nerve should be explored and repaired. The methods include facial nerve decompression, end-to-end anastomosis, end-to-end anastomosis after nerve transfer, interpositional nerve grafts with the great auricular nerve and facial-hypoglossal nerve anastomosis.</p>

Preliminary clinical research of cochlear implantation in elderly and pre-elderly patients with profound hearing loss / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore the safety and efficacy of cochlear implantation among elderly patients with severe to profound hearing loss.</p><p><b>METHODS</b>Eight pre-elderly and elderly patients with an medium age of 58 years who suffered from bilateral severe to profound sensorineural hearing loss received cochlear implantation between November 2008 and November 2009. The patients' tolerance to implant surgery and the occurrence of complications were observed. Three months after switch-on, aided threshold and speech performance were measured.</p><p><b>RESULTS</b>The surgery was uneventful in all cases with normal intraoperative neural response telemetry elicited. Three months after switch-on, average aided threshold across speech frequencies was 35 - 50 dB HL measured in sound field with warble tone. The results of speech audiometry showed large variation between individuals. Some patients achieved good performance in monosyllable recognition test, disyllables threshold test and sentences recognition test under both bubble noise and quiet conditions.</p><p><b>CONCLUSIONS</b>Pre-elderly and elderly patients can endure a state of general anesthesia for cochlear surgery without complications. Cochlear implant can provide reconstruction of speech recognition capabilities for elderly patients suffering from severe to profound hearing loss. Cochlear implantation can improve the quality of life of elderly patients with hearing loss.</p>

Development and evaluation of standardized Mandarin monosyllable audiometric materials / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To develop a set of Mandarin monosyllabic list for the goal to use as a standardized speech recognition assessment tool in China with sufficient validity, reliability and sensitivity.</p><p><b>METHODS</b>Thirty lists were designed based on the following criteria: efficiency, phonemic-balance, familiarity and coverage, while each list was designed corresponding to 25 monosyllables. These lists were read by a male broadcaster, recorded digitally and composed into compact disc. Our work consisted of three phases. Phase I: Sixty adults with normal hearing were recruited from Beijing to repeat as many syllables which they heard as possible. According to the randomized block design, 30 lists were presented with 6 intensities including -1 dB, 5 dB, 11 dB, 15 dB, 21 dB and 27 dB HL(speech). The lists and intensities were counterbalanced across all participants. Recognition scores in individual intensities for each list were calculated, and then logistic regression was utilized to fit Performance-Intensity (P-I) function. Two-way (list No. and Intensity) repeated measurement analysis of variance and Post-Hoc Tukey HSD test indicated that 22 lists were equivalent. Phase II: Twenty-two oral/aural normal adults were recruited to assess monosyllable recognition scores with the 22 equivalent lists at 10 dB HL(Speech), according to the Latin-Square design. Tests were administered twice for all participants with the same procedure and situation during 6 to 35 day intervals. The differences in scores (after a "rationalized" arcsine transformation) among 22 lists across over the two sessions is 9.3%, the data were collected from 22 participants, the measurement error was calculated by SD (standard deviation), the critical difference (CD) for test score improvement was 18.3% (determined as SD x 1.96, in 95% confidence level). Phase III: Eighteen participants with sensorineural hearing loss were recruited to assess recognition perception using 18 equivalent monosyllable lists at 30 dB suprathreshold based on Latin-Square design. Tests were administered twice by using the same procedure and situation within 1 to 16 day intervals. The same approach in Phase II was utilized to calculate SD (8.3%). The CD was calculated as 16.3% (in 95% confidence level).</p><p><b>RESULTS</b>A set of standardized Mandarin recognition assessment material had been developed and it consisted of 22 equivalent phonemic-balanced lists with 25 monosyllables each. Approximately, every single list took 2 minutes, and thus it might be appropriate for clinical assessment. The P-I functions reveal that the recognition threshold was (8.30 +/- 0.84) dB HL(speech) and the slope of PI functions was (4.0 +/- 0.3)%/dB for adults with normal hearing. When a set of Mandarin monosyllable lists was utilized as an assessment tool, the critical difference of 18.3% (for normal-hearing adults) and 16.3% (for hearing-impaired adults) would be a key for clinicians to assess the improvement of speech recognition ability appropriately with statistically significance.</p><p><b>CONCLUSION</b>In this study, a new Mandarin monosyllabic lists has been successfully developed with a sufficient validity, reliability and sensitivity for clinical evaluations, thus it might be convenience and helpful to be used as a standardized speech recognition assessment tool in China.</p>

Test-retest reliability of Mandarin monosyllable lists: a multi-center study in Chinese dialectal regions / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To develop 22 Chinese Mandarin monosyllable lists with good psychometrical equivalence. This study was to evaluate the test-retest reliability of these lists when it was used in speech recognition test in normal hearing dialectal speakers.</p><p><b>METHODS</b>Seven cities including Dalian, Shanghai, Hangzhou, Wuhan, Guangzhou, Fuzhou and Xiamen were selected as testing centers which contain 6 typical Chinese dialectal regions including north of China, East of China, north of Fujian, south of Fujian, Guangdong and mid-south of China. At each center, 22 local normal hearing people were selected to join this study. Every participant was tested by each recognition test of all 22 lists twice in two sessions and same test order respectively. The second run of testing was carried out within 10 days-1 month since first run of testing.</p><p><b>RESULTS</b>There was a significant correlations between scores obtained at the two sessions (r = 0.682, P < 0.01). Paired student-t test had shown that a gross score of all dialectal participants was significantly higher than that of initial test to retest (P < 0.01). The mean increment of score was (2.7 +/- 10.1)%. A significant difference of test-retest score in 7 sites was 19.8% and it was equal to 5 test items. A one way ANOVA analysis had indicated that there were statistically significant difference between the score improvement of 7 test sites (P < 0.01). Another analysis had shown that there was no significant correlation between test-retest score improvement and intra-session intervals (P = 0.947).</p><p><b>CONCLUSIONS</b>Mandarin monosyllabic recognition test seems to be more stable, and the present study has indicated a systematic differences in Chinese Mandarin monosyllable recognition scores between test and retest. Monosyllable recognition test is not susceptible to memory effect. Pearson's correction analysis is not suitable to evaluation for test-retest reliability.</p>

Analysis of improper pattern of Mandarin monosyllable recognition test among the patients with auditory neuropathy / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the improper pattern in mandarin monosyllable recognition test among the patients with Auditory Neuropathy (AN) in order to work out the common characteristics in speech recognition which might be suitable for diagnosis of AN.</p><p><b>METHODS</b>Sixteen AN patients (32 ears) were studied and 22 patients (32 ears) with sensorineural hearing loss (SNHL) were set for control. In accordance with audiogram pattern, all subjects were then divided into the up-type hearing (15 ears) and non up-type hearing (17 ears) groups. All 64 ears were tested in high intensity by mandarin monosyllable test material which we have developed before. Monosyllable performance scores from testing ears and improper patterns were recorded respectively. Eight improper patterns were then defined as follows: consonant only, vowel only, tone only, consonant and vowel, consonant and tone, vowel and tone, all phonemes and no response.</p><p><b>RESULTS</b>The score of patients with AN was lower than those patients with SNHL in monosyllable recognition test (P < 0.001). No significant difference was found between subgroup of up-type hearing loss and SNHL group in percentage correct scores of monosyllables, consonants, vowels, and tones statistically (P > 0.05), but significant lower score was found in subgroup of non up-type hearing loss compared with SNHL group in these 4 percentage scores concerned (P < 0.001). Chi square test presented a significant difference in improper pattern proportion between AN and SNHL groups (P < 0.001), which could be related to more proportional tone recognition in the former's incorrect items. Improper pattern proportions between two AN subgroups presented a significant difference statistically (P < 0.001), which could be related to a larger proportional recognition of tones and vowels in subgroup of up-type hearing loss compared with subgroup of non up-type hearing loss.</p><p><b>CONCLUSIONS</b>A poor performance might be a major clinical feature identified AN from SNHL in mandarin tone recognition. There are significant differences between AN patients with up-type hearing loss and patients with non up-type hearing loss in performance of monosyllable recognition and improper pattern proportion of tones and vowels. A psychophysical testing may be a key potential in diagnosis of AN in further clinical application.</p>

Analysis of clinical features of concomitant vertigo in idiopathic sudden deafness / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of concomitant vertigo in patients with sudden deafness (SD).</p><p><b>METHODS</b>Ninety-six cases of SD were reviewed retrospectively from January 2005 to July 2009. SD and benign paroxysmal positional vertigo (BPPV) were diagnosed according to the guides of China Medical Association. The characteristics of vestibular function and the order of the onset of cochlear and vestibular symptoms were analyzed.</p><p><b>RESULTS</b>Of all 96 cases, 23 (24.0%) cases presented with BPPV; 58 (60.4%) cases took the form of unilateral vestibular hypofunction and 15 (15.6%) cases had normal vestibular function. Time interval between cochlear and vestibular symptoms was as follows: 46 patients could tell the exact time of onset of cochlear and vestibular symptoms, of which 6 (13.0%) cases occurred simultaneously; 4 (8.7%) cases presented vertigo within 1 hour after onset of cochlear symptom hypofunction; 21 (45.7%) cases showed time interval between 1 hour and 24 hours; and 13 (28.3%) cases presented vertigo at several days (less than 10 days) after cochlear symptoms. And only in 2 (4.3%) cases did vertigo occur before cochlear symptoms.</p><p><b>CONCLUSIONS</b>Concomitant vertigo in idiopathic SD took the forms of normal or abnormal vestibular function, some of which were BPPV. Occurrence of vertigo was after cochlear symptoms.</p>

Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate whether GJB3 and GJB2 interaction to produce a deafness phenotype in a digenic mode of inheritance in Chinese deafness population.</p><p><b>METHODS</b>A series of 108 patients with severe or profound hearing loss carrying one heterozygous GJB2 pathogenic mutation were sequenced for GJB3 coding region, which compared with the data of control group.</p><p><b>RESULTS</b>Three GJB3 missense variants including V84I, A194T and N166S, and four GJB3 nonsense mutation were detected. N166S and A194T were considered as pathogenic which cause nonsyndromic autosomal recessive hearing loss and V84I was considered as polymorphisms in Chinese population. The two patients who carried N166S and A194T respectively in one allele also carried GJB2 235delC mutation in other allele, while the other patient who carried A194T in one allele also carried GJB2 299_300delAT mutation in other allele.</p><p><b>CONCLUSIONS</b>GJB3 and GJB2 might interact to produce deafness in a digenic mode of inheritance, but the point need to be proved in further study.</p>

Rescue of postoperative carotid blowout in head and neck neoplasms / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the prevention and rescuing measures of postoperative fatal bleeding induced by carotid blowout in head and neck tumors.</p><p><b>METHODS</b>Seven cases with postoperative carotid bleeding treated from October 2003 to August 2009 were reviewed retrospectively. Of the patients, 6 were with common carotid blowout and one with internal carotid artery blowout. All patients underwent pre- or post-operative radiotherapy for primary head and neck tumours and 3 patients had neck defect repair with deltopectoral skin flap, frontal flap or free radial arm flap respectively. After carotid blowout bleeding, the patients were treated in time with X ray transcatheter intervention including transcatheter arterial embolization (TAE) and self-expanding covered stent implantation, followed by repairing the carotid region with appropriate myocutaneous flaps.</p><p><b>RESULTS</b>Of 7 patients with carotid blowout, 5 patients were successfully rescued with X ray transcatheter intervention, of them 2 with self-expanding covered stent implantation and 2 with TAE respectively, and other 2 patients died due to rapid bleeding. Of the successfully rescued patients, 2 patients were with the repair of carotid area by pectoralis major myocutaneous flap, one by submental flap and one by local flap, but another one not with flap repair. Follow-up showed the 3 patients rescued with self-expanding covered stent implantation were survival for 6, 12, and 20 months, respectively, and the 2 patients rescued with TAE died of repeated carotid blowout in 2 and 13 months later, respectively.</p><p><b>CONCLUSIONS</b>The planned and timely X ray transcatheter intervention is an effective method to treat carotid blowout bleeding in the patients underwent head and neck tumour surgeries. Compared with TAE, self-expanding covered stent implantation may be more reliable for restoring the blood supply of head and neck region, with less complications. One-stage repair of carotid region with myocutaneous flap is of great importance to protect the carotid and to promote the wound healing.</p>

Audiological and genetic studies on 130 infants with hearing loss / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors.</p><p><b>METHODS</b>Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations.</p><p><b>RESULTS</b>Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth (65.4%, 85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies.</p><p><b>CONCLUSIONS</b>In our studies, about 36.9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.</p>

Complications of canalith repositioning procedure for benign paroxysmal positional vertigo / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the incidence of complications of canalith repositioning procedure (CRP) for benign paroxysmal positional vertigo (BPPV) in order to recognize and intervene the complication.</p><p><b>METHODS</b>Totally 430 cases of BPPV were treated by CRP between Jan., 2005 and Nov., 2007. The patients with complication were retreated with CRP according to the new canals otolith falling into.</p><p><b>RESULTS</b>There were 313 patients with posterior canal BPPV, among which 5 had complications during CRP for posterior canal BPPV and 3 for horizontal canal BPPV. And 1 patient transformed from cupulolithiasis to canalithiasis during Semont CRP, which made CRP possible. Three patients had horizontal BPPV during CRP for posterior canal BPPV. Horizontal BPPV emerged during CRP for anterior canal BPPV in 1 patient. CRP for the posterior BPPV had more patients with complication than that of CRP for the anterior BPPV, but the percentage was on the contrary, and they were 1.9% (8/313) and 28.6% (2/7) respectively. The rate of complication during CRP was 3.3% (14/430) and all of them recovered well with CRP.</p><p><b>CONCLUSIONS</b>There are possibility for canal otolith transferred from one canal to another. Careful observation of nystagmus and reevaluation of the patients with BPPV in case of unsuccessful treatments are crucial to determine the complications.</p>

Real-time Taqman probe technique system for detecting the MtDNA 1555 A > G mutation / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To establish a Real-time Taqman probe technique system to detect the mtDNA 1555A > G mutation in deaf population.</p><p><b>METHODS</b>Primers and Taqman probes for mtDNA 1555A > G mutation were designed and synthesized. The technique system for detecting mtDNA 1555A > G mutation using Real-time Taqman probes was established. Then the reliability of the technique was tested in 132 patients with severe to profound hearing loss who were detected for the mtDNA 1555A > G mutation by sequencing, Kit method and Real-time Taqman probe technique at the same time. Finally, the results by the above three ways were compared.</p><p><b>RESULTS</b>Thirty-two cases with mtDNA 1555A > G mutation were found by the technique of Real-time Taqman probe. These findings coincided with the results from sequencing and Kit method completely. Both the false positive rate and the false negative rate were zero.</p><p><b>CONCLUSIONS</b>The technique possesses the merits of accuracy, convenience, high sensitivity, high specificity and intuitionistic results, etc. Importantly, the Real-time Taqman probe technique only needs 1.5 hours to detect the 1555A > G mutation and it saves 4.5 hours for one reaction compared with the Kit method popularly used nowadays. The technique system of detecting mtDNA 1555A > G mutation is reliable. It's suitable for large-scale detecting and preventive diagnosis of mtDNA 1555A > G mutation.</p>

Clinical analysis of adenoid cystic carcinoma of external auditory canal / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore methods of treatment for adenoid cystic carcinoma of external auditory canal, and discuss the correlating factors that effect prognosis.</p><p><b>METHODS</b>A retrospective analysis of 19 cases of adenoid cystic carcinoma of external auditory canal treated from 1988 to 2004 was carried out. Based on University of Pittsburgh TNM staging system of external auditory canal carcinoma, 19 cases were classified into groups as 5 cases in T1, 2 in T2, 6 in T3, and 6 in T4. Local resection was performed in cases in stage T1 and T2, while radical mastoidectomy or temporal bone resection was performed in stage T3 and T4. Radiotherapy was applied after operation. Relapsed cases with isolated metastasis were treated by surgery. Multiple metastasis were treated with radiotherapy.</p><p><b>RESULTS</b>The follow-up time is from 6 months to 19 years, and the median is 44 months. There're 8 cases with more than 5 years' follow-up. Twelve patients relapsed and 7 had metastasis but 4 died. The cases with positive incisal edge after first operation relapsed even treated with radiotherapy. In recurrent cases, 9 cases received more than 2 operations, 8 more than 3, and 4 received 4 operations.</p><p><b>CONCLUSIONS</b>The adenoid cystic carcinoma of external auditory canal grows insidiously, and relapses frequently. But the patients can live long with neoplasm implanted. A wide surgical excision combined with post operative radiotherapy was proposed, and negative incision edge should be confirmed. Recurrent cases can be treated with several operations to elongate survival. Multiple relapses will cause metastasis more frequently. Metastasis is the main reason to cause death.</p>

Technique of hearing preservation during acoustic neuroma surgery / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore the possibility of hearing protection in acoustic neurinoma (AN) resection and to evaluate the effect of dynamic auditory monitoring and the effect of oto-endoscope for hearing protection.</p><p><b>METHODS</b>From July 2003 to July 2007, there were a total of 138 cases of AN received surgical treatment Continuous hearing monitoring was conducted in 18 cases with residual hearing. In these 18 cases, there were 6 males and 12 females, with 12 cases in left side and 6 cases in right. Fifteen cases were solitary AN, 3 cases were diagnosed as neurofibromatosis II. Maximal diameters of the tumor varied between 12 and 33 millimeters with an average of 19.9 millimeters. All cases were operated on by retrosigmoid approach with routine facial nerve monitoring. Ten cases were assisted by oto-endoscope. Eighteen cases were performed accompanying continuous auditory brainstem response (ABR) and electro-cochleogram (EcochG). The patients were given routine hearing function test 7 to 10 days after operation, and reexamined 6 months to 1 year. The duration of follow-up ranged 6 months to 2. 5 years. Hearing data of the last time was thought as the judging result. Preoperative and postoperative hearing standard refer to (AAO-HNS) classifying.</p><p><b>RESULTS</b>In all 18 cases, tumors were resected completely in 16 cases, but sub-totally removed in 2 cases which were II neurofibromatosis. There was no mortality and no severe complication in this series. All the 18 cases had no facial paralysis before operation, and during operation facial nerves in 18 cases were kept anatomic integrity. According to House-Brackmann grade system, for 18 AN patients 7 days after operation only 50.0% (9/18) were kept at grade I to II , but 88.9% (16/18) were kept at grade I to II 6 months after operation. Out of 18 cases, hearing function were preserved in 11 cases (61.1%, 11/18). After operation, there were 4 cases at hearing grade A, 4 cases at hearing grade B, 2 cases at hearing grade C and 1 cases at hearing grade D. In all 18 cases, there were 5 cases with tumor diameter more than 20 millimeters, in which only 2 cases of them preserved hearing function (2/5). However, 9 cases preserved their hearing function in the other 13 cases whose tumors diameter less than 20 millimeters (69.2%, 9/13). In 10 cases assisted by oto-endoscope, 8 cases obtained hearing protection (80.0%, 8/10) and 2 cases lost hearing. During operative monitoring, when drilling posterior lip of internal auditory canal (IAC), dragging and electric coagulating nearby IAC, especially clamping labyrinthine artery, removing tumor in IAC or electric coagulating arachnoid blood vessel on the top of tumor tissue, the ABR waves were affected greatly.</p><p><b>CONCLUSIONS</b>For the AN patient with preoperative residual hearing, it was necessary to protect hearing by combining continuous auditory monitoring with oto-endoscope technique. Based on these efforts the patient could preserve applicable hearing after operation. Whether or not arachnoidal on the top of AN remain and the conditions about blood supplying were the main factors that affect postoperative hearing. Moreover trauma of labyrinthine artery was the key to postoperative hearing loss.</p>

Visual evoked potentials in adults with migrainous vertigo / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the visual evoked potentials in adults with migrainous vertigo (MV).</p><p><b>METHODS</b>Totally 113 patients with MV were enrolled from vertigo clinic. Patients received necessary laboratory examinations as well as pattern visual evoked potential (PVEP) testing.</p><p><b>RESULTS</b>Definite MV accounted for 46.9% (53/113) and probable MV accounted for 53.1% (60/113). Among 74 patients who received PVEP, the results were normal in 35 patients (47.3%) and abnormal in 39 patients (52.7%). The abnormal manifestations included lowered N75-P100 amplitude, elongated latency of P100, and lowered N75-P100 amplitude combined with delayed latency of P100. Seven patients with MV had unilateral lowered N75-P100 amplitude and 4 had bilateral abnormal amplitude. Nine patients had unilateral delayed latency of P100 and 11 had bilateral abnormal latency. Four patients had unilateral and 4 had bilateral abnormal N75-P100 amplitude and latency of P100.</p><p><b>CONCLUSIONS</b>MV patients usually have abnormal PVEP. PVEP may become a useful electrophysiological test in the diagnosis of MV.</p>

Investigation of surgical managements of olfactory neuroblastoma / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To evaluate the safety and efficacy of transnasal endoscopic resection and craniofacial resection through an external approach for olfactory neuroblastoma (ONB).</p><p><b>METHODS</b>Thirty two patients with ONB treated between 1987 and 2006 were retrospectively reviewed.</p><p><b>RESULTS</b>The patients were followed up for 8-135 months, the median follow-up time was 20 months. The longest follow-up time of patients treated by endoscope was 79 months, and patients treated by combined endoscope and transcranial surgery was 87 months. At Kadish stage B the 3-year survival rate of patients with transnasal endoscopic resection was 78.8% and at Kadish stage C it was 50.0%. At Kadish stage B the 3-year survival rate of patients with craniofacial resection through an external approach was 60.0% and at Kadish stage C it was 44.4%. The bleeding amounts in above two approaches were 140 ml and 450 ml. The average length of stay in hospital in transnasal endoscopic resection approach was markedly reduced (P < 0. 01).</p><p><b>CONCLUSIONS</b>Olfactory neuroblastoma can be safely and effectively excised and reconstructed endoscopically with comparable degrees of tissue removal as with external approaches. The time of stay in hospital can be reduced and the surgical trauma can be diminished.</p>