{"title":"Cracking the auditory genetic code: part II. Syndromic hereditary hearing impairment.","authors":"C J Tseng, A K Lalwani","doi":"10.1016/s0196-0709(00)80058-7","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80058-7","url":null,"abstract":"<p><strong>Objective: </strong>The application of molecular genetic techniques to the study of hereditary hearing impairment has contributed significantly to our understanding of auditory physiology and disease processes. This article reviews the current state of our knowledge regarding the genes associated with syndromic hereditary hearing impairment.</p><p><strong>Data sources: </strong>Data were obtained from the Medline database and the internet.</p><p><strong>Study selection: </strong>Articles relevant to genetics of syndromic deafness were selected.</p><p><strong>Data extraction: </strong>Data pertaining to phenotypes, location of genes, identification of genes, and implications for hearing were extracted.</p><p><strong>Conclusion: </strong>Significant progress has been made in understanding the molecular pathogenesis of deafness.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"437-51"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Intralabyrinthine schwannomas.","authors":"G E Forton","doi":"10.1016/s0196-0709(00)80060-5","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80060-5","url":null,"abstract":"","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"456"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C G Jackson, B M McGrew, J A Forest, C R Hampf, M E Glasscock, J L Brandes, M B Hanson
{"title":"Comparison of postoperative headache after retrosigmoid approach: vestibular nerve section versus vestibular schwannoma resection.","authors":"C G Jackson, B M McGrew, J A Forest, C R Hampf, M E Glasscock, J L Brandes, M B Hanson","doi":"10.1016/s0196-0709(00)80053-8","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80053-8","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate intradural drilling as a mechanism for the development of postoperative headache after retrosigmoid craniectomy.</p><p><strong>Study design: </strong>A retrospective review of charts was performed on 565 retrosigmoid approaches to the cerebellopontine angle performed between January 1980 and January 1998. Patients treated with retrosigmoid vestibular nerve section without intradural drilling were compared with patients who underwent retrosigmoid removal of vestibular schwannomas in which intradural drilling was performed for exposure of the internal auditory canal.</p><p><strong>Setting: </strong>Private practice tertiary referral center.</p><p><strong>Patients: </strong>Consecutive patients undergoing retrosigmoid approach between January 1980 and January 1998 were reviewed.</p><p><strong>Main outcome measures: </strong>The presence of headache, duration of headache, and severity of headache were noted.</p><p><strong>Results: </strong>In this large series, 54% of patients experienced headaches after vestibular schwannoma removal, and 5% of patients experienced headaches after vestibular nerve section (p < 0.01, chi-square).</p><p><strong>Conclusions: </strong>Postoperative headache is not a characteristic of retrosigmoid craniectomy in the absence of intradural drilling. Intradural drilling is a probable cause of headache after the retrosigmoid approach. Cranioplasty is not necessary to prevent a high incidence of postoperative headache after retrosigmoid approach.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"412-6"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21667795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Child and family factors associated with deaf children's success in auditory-verbal therapy.","authors":"S R Easterbrooks, C M O'Rourke, N W Todd","doi":"10.1016/s0196-0709(00)80042-3","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80042-3","url":null,"abstract":"<p><strong>Objectives: </strong>To identify the general demographics of children who had Auditory-Verbal therapy and to identify child and family factors associated with differences between those children for whom Auditory-Verbal therapy led to success and those for whom it did not.</p><p><strong>Setting: </strong>Private tertiary care facility.</p><p><strong>Population: </strong>Children who had hearing losses ranging from mild to profound.</p><p><strong>Intervention: </strong>Auditory-Verbal therapy, a therapeutic intervention designed to teach parents to educate their young deaf and hearing-impaired children to use residual hearing and to speak, was used.</p><p><strong>Main outcome measures: </strong>Clinic files, parent questionnaires, and parent report of current success were used to determine efficacy of treatment.</p><p><strong>Results: </strong>Fifty-seven percent of the clients who remained in this program for over 1 year were fully integrated into regular education, with no services from a teacher of the deaf. The population was affluent, with more females than expected. Those who left dissatisfied tended to be males with greater degrees of hearing loss who left the program soon after 1 year.</p><p><strong>Conclusions: </strong>Auditory-Verbal therapy provides successful intervention to students with a particular set of demographic characteristics.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"341-4"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J Thomsen, F Mirz, R Wetke, J Astrup, M Bojsen-Møller, E Nielsen
{"title":"Intracranial sarcoma in a patient with neurofibromatosis type 2 treated with gamma knife radiosurgery for vestibular schwannoma.","authors":"J Thomsen, F Mirz, R Wetke, J Astrup, M Bojsen-Møller, E Nielsen","doi":"10.1016/s0196-0709(00)80046-0","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80046-0","url":null,"abstract":"<p><strong>Objective: </strong>To discuss the possible relationship between stereotactic radiation therapy and the development of a meningosarcoma.</p><p><strong>Study design: </strong>Retrospective case review.</p><p><strong>Patient: </strong>A 19-year-old woman with bilateral vestibular schwannomas (neurofibromatosis type 2). One large tumor was removed totally by the translabyrinthine approach; the other smaller tumor was treated with stereotactic radiation (SRT). Six years after SRT, a malignant tumor (meningosarcoma) developed at the exact site of radiation. The patient subsequently died of this tumor.</p><p><strong>Outcome measure: </strong>On the basis of literature surveys, the possibility and risk of postirradiation neoplasia after SRT is discussed. Furthermore, the possible causal association between SRT and the development of the meningosarcoma in this case is evaluated.</p><p><strong>Conclusion: </strong>On the basis of statistical considerations, the development of the reported mesenchymal sarcoma was most likely caused by the stereotactic radiation therapy.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"364-70"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ossicular chain reconstruction using a new tissue adhesive.","authors":"J L Maw, J M Kartush","doi":"10.1016/s0196-0709(00)80035-6","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80035-6","url":null,"abstract":"<p><strong>Hypothesis: </strong>A new medical-grade cyanoacrylate tissue adhesive will improve the results of ossicular chain reconstruction in a rat model.</p><p><strong>Background: </strong>An ideal tissue adhesive has long been awaited by otologists. Studies examining the older cyanoacrylates have demonstrated variable efficacy and toxicity. Octylcyanoacrylate is a new tissue adhesive that has many ideal properties for otologic surgery.</p><p><strong>Methods: </strong>Thirteen female C-D rats were anesthetized, and preoperative auditory brainstem response (ABR) testing was performed. A left antrotomy was performed, and the incus was removed. In the adhesive group, the incus was dipped in octylcyanoacrylate and interposed between the tympanic membrane and the stapes; no adhesive was used in the control group. At 8 weeks, postoperative ABR was performed, the integrity of the ossicular chain inspected, and histopathologic analysis of the temporal bones performed. Statistical comparison of ABR results was performed with the Mann-Whitney test.</p><p><strong>Results: </strong>Seven rats were randomized to the adhesive group and six to the control group, of which four survived. There were no histopathologic differences in the temporal bones of the animals other than the presence of mild foreign body reaction around the ossicular chain of the animals in the adhesive group. The ossicular chain was not intact in two of the four controls, whereas the rest were intact at 8 weeks. Postoperative air conduction ABR results (mean dB sound pressure level) (62.5 control versus 34.3 adhesive, p = 0.010) and air-bone gaps (47.5 control versus 18.9 adhesive, p = 0.008) were significantly better in the adhesive group.</p><p><strong>Conclusions: </strong>This new medical-grade tissue adhesive improves the hearing results of ossicular chain reconstruction, with no apparent histotoxicity in this animal model.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"301-5"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Stereotactic radiosurgery for acoustic neuromas: a survey of the American Neurotology Society.","authors":"R A Battista, R J Wiet","doi":"10.1016/s0196-0709(00)80047-2","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80047-2","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this study was to better understand the complications, outcomes, and surgical difficulties in treating acoustic neuroma patients who have undergone stereotactic radiosurgery (SRS).</p><p><strong>Study design: </strong>A six-page, 28-item questionnaire was mailed to 395 members of the American Neurotology Society.</p><p><strong>Setting: </strong>The study was conducted through an academic neurotologic practice. Questionnaire respondents were neurotologic physicians in private and academic practice.</p><p><strong>Patients: </strong>A total of 46 patients who had undergone SRS were evaluated.</p><p><strong>Interventions: </strong>Twelve (26%) of the 46 patients required microsurgery after SRS.</p><p><strong>Main outcome measures: </strong>Posttreatment cranial nerve status and the development of complications such as cerebrospinal fluid leak, meningitis, and cerebrovascular accident were evaluated.</p><p><strong>Results: </strong>In the group of 12 patients who underwent microsurgery after SRS, 11 patients had some form of postoperative facial paralysis. Anacusis was present in all 12 patients. Two of the 12 patients had new-onset trigeminal neuropathy postoperatively.</p><p><strong>Conclusion: </strong>Microsurgical resection of acoustic neuroma after SRS is technically difficult. The difficulty exists regardless of the time of microsurgical resection after SRS. Patients who underwent microsurgery after SRS had uniformly poor cranial nerve results.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"371-81"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21667789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H Staecker, J B Nadol, R Ojeman, S Ronner, M J McKenna
{"title":"Hearing preservation in acoustic neuroma surgery: middle fossa versus retrosigmoid approach.","authors":"H Staecker, J B Nadol, R Ojeman, S Ronner, M J McKenna","doi":"10.1016/s0196-0709(00)80051-4","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80051-4","url":null,"abstract":"<p><strong>Objective: </strong>To compare the results of the middle fossa approach with those of the retrosigmoid approach in acoustic neuroma hearing preservation surgery.</p><p><strong>Study design: </strong>Retrospective review.</p><p><strong>Setting: </strong>Tertiary care facility.</p><p><strong>Patients: </strong>Patients of the otology service with acoustic neuromas and useful hearing. Fifteen intracanalicular tumors were removed via a middle fossa approach and matched with 15 intracanalicular tumors removed via the retrosigmoid approach. Four additional patients with larger tumors were operated on via the middle fossa approach and matched with patients having similar tumors removed via the retrosigmoid approach.</p><p><strong>Main outcome measures: </strong>The 1994 Committee on Hearing and Equilibrium guidelines for the evaluation of hearing preservation in acoustic neuroma were applied. Facial nerve results were graded according to the House-Brackmann grading scale 3 months postoperatively.</p><p><strong>Results: </strong>In the group operated on by the middle fossa approach, the average preoperative pure-tone threshold average (PTA) was 23 dB with a word recognition score (WRS) of 79%, and the postoperative PTA averaged 49 dB with a mean WRS of 56%. In the group operated on by the retrosigmoid approach, the mean preoperative PTA was 16 dB with a WRS of 95% and a postoperative PTA value of 62 dB and WRS of 51% (hearing preservation rate of 47%). The middle fossa patients had an average change in PTA of 19 dB and an average change in WRS of 20% (hearing preservation rate of 57%). Overall, the retrosigmoid patients had an average change in PTA of 42 dB and an average change in WRS of 40%. The average change in PTA for larger tumors removed via the middle fossa approach was 32 dB, whereas all matched retrosigmoid patients lost all hearing. The rate of cerebrospinal fluid leak and facial nerve outcomes were similar between the two groups. The retrosigmoid group had a higher rate of postoperative headache.</p><p><strong>Conclusions: </strong>Compared with the retrosigmoid approach, the middle fossa approach for hearing preservation surgery yields better hearing results for intracanalicular tumors and also has a lower incidence of postoperative headache.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"399-404"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21667793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cochlear deafness in a Chinese family with Fechtner's syndrome.","authors":"M W Pak, M H Ng, C B Leung, C A van Hasselt","doi":"10.1016/s0196-0709(00)80043-5","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80043-5","url":null,"abstract":"<p><strong>Objective: </strong>To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome.</p><p><strong>Study design: </strong>Retrospective case review.</p><p><strong>Setting: </strong>Tertiary referral center.</p><p><strong>Patients: </strong>A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease.</p><p><strong>Interventions: </strong>The diagnosis of Fechtner's syndrome was confirmed by the characteristic ultrastructure of the Döhle-like inclusion bodies in the neutrophils of the mother and her three children. Pure-tone audiometry, evoked response audiometry (ERA), and distortion product otoacoustic emissions (DPOAE) were performed in two subjects to investigate the hearing impairment.</p><p><strong>Main outcome measure: </strong>The parameters of the ERA and DPOAEs were correlated.</p><p><strong>Results: </strong>In both subjects, the ERA was within normal limits, and there were no measurable DPOAEs in frequencies >2 kHz.</p><p><strong>Conclusion: </strong>The hearing loss in Fechtner's syndrome is cochlear rather than neural.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"345-50"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"External aperture of the vestibular aqueduct in Meniere's disease.","authors":"J J Shea, X Ge, R M Warner, D J Orchik","doi":"10.1016/s0196-0709(00)80044-7","DOIUrl":"https://doi.org/10.1016/s0196-0709(00)80044-7","url":null,"abstract":"<p><strong>Objective: </strong>To study the relationship of the length of the external aperture of the vestibular aqueduct and the ratio of the summating potential and action potential (SP:AP) in patients with Meniere's disease.</p><p><strong>Study design: </strong>Retrospective case study.</p><p><strong>Setting: </strong>Neurotology referral center.</p><p><strong>Patients: </strong>Fifty-four patients with Meniere's disease and nine control subjects without Meniere's disease.</p><p><strong>Intervention: </strong>The external aperture of the vestibular aqueduct was measured from a three-dimensional surface reconstruction computed tomography scan. Transtympanic electrocochleography was performed on patients with Meniere's disease.</p><p><strong>Main outcome measure: </strong>The length of the external aperture of the vestibular aqueduct in the Meniere's disease ears was related to the SP:AP ratio in the Meniere's disease ears and compared with controls.</p><p><strong>Results: </strong>The average length of the external aperture was 3.79 +/- 2.92 mm in Meniere's disease ears and 5.35 +/- 1.73 mm in the control ears (p < 0.05). An enlarged SP:AP ratio was found in 95% of ears in the group with nonvisible external apertures of the vestibular aqueduct, 91% of ears in the <5 mm group, 58% of ears in the 5-7 mm group, and 29% of ears in the >7 mm group (chi-square = 24.814; p = 0.000).</p><p><strong>Conclusions: </strong>The length of the external aperture of the vestibular aqueduct in patients with Meniere's disease is significantly shorter than in those without Meniere's disease. Endolymphatic hydrops, evidenced by an enlarged SP:AP ratio, was related to the length of the external aperture of the vestibular aqueduct. The shorter the external aperture, the more often the SP:AP ratio was enlarged. A short or nonvisible external aperture of the vestibular aqueduct is a predisposing factor to the development of Meniere's disease.</p>","PeriodicalId":76596,"journal":{"name":"The American journal of otology","volume":"21 3","pages":"351-5"},"PeriodicalIF":0.0,"publicationDate":"2000-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21666668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}