先天性小耳畸形并外耳道闭锁一期成形和外耳道重建术中配合

目的:探讨先天性小耳畸形并外耳道闭锁一期耳廓成型和外耳道重建术中的手术配合方法。方法:2007年1月～2012年5月我院开展一期耳廓成形和听力重建术患者62例(66耳),均为先天性耳廓畸形伴外耳道闭锁、听骨链畸形、重度传导性耳聋。一期手术包括耳廓成形、外耳道重建、中耳重建手术。术中配合要点包括巡回护士术前对患儿进行针对性的心理护理,充分的物品准备,熟悉手术步骤,为患者摆放舒适、恰当体位,密切监护生命体征,保持引流管位置的正确及通畅;术中器械护士严格执行无菌技术,积极、密切的配合等。结果:62例(66耳)小耳畸形患者手术顺利,耳廓成形、中耳重建术后耳廓埋置于皮下,外形良好,耳廓和外耳道口位置接近正常,未出现护理差错,大部分患者术后耳廓外形及听力获得改善。结论:先天性耳廓畸形并外耳道闭锁手术风险较大,难度较高,术中与手术医师熟练的手术配合,有效的手术间管理,严格的无菌操作,是手术成功的重要保证。     

Molecular diagnosis of deafness

Despite advances in discovery of deafness genes, clinical application still entails difficulties because of the genetic heterogeneity of deafness. In order to establish strategy for clinical application, we reviewed the genes responsible for hearing loss patients in Japan (Usami S et al; Acta Otolaryngol 128: 446-454, 2008), and discussed diagnostic strategy for mutation screening based on a mutation/gene database (Abe S et al; Genet Test 11: 333-340, 2007). Our series of mutation screenings has revealed that mutations in GJB2, SLC26A4, and CDH23, and the 1555A>G mutation in the mitochondrial 12S rRNA, were the major causes of hearing loss in Japanese patients. Interestingly, spectrums of GJB2, SLC26A4, and CDH23 mutations found in the Japanese population were quite different from those reported in populations with European ancestry. Our simultaneous screening of the multiple deafness mutations was based on the mutation spectrum of a corresponding population. The multicenter trial for this assay using an Invader panel revealed that approximately 40% of congenital hearing loss subjects could be diagnosed. This assay will enable us to detect deafness mutations in an efficient and practical manner in the clinical platform.     

The Influence of Chronic Undernutrition on Bone Growth in Children

Any surgical approach to deafness must limit its scope to conduction deafness. The established otologic surgical procedures were designed mainly to treat uncomplicated or complicated ear infections or to prevent acquired deafness that is due to infection.

The newer procedures are designed to reconstruct or restore middle ear structures and to improve hearing in children with conduction deafness.     

震动触觉刺激fMRI评价先天性耳聋婴幼儿听觉及语言中枢功能的可行性

目的 评价震动触觉刺激fMRI在先天性极重度耳聋婴幼儿听皮质、语言中枢功能检测中的可行性。方法 选取先天性极重度感音神经性耳聋患儿19例(聋儿组)及听力正常幼儿7名(对照组),分别采集轴位SE T1WI、GRE-EPI fMRI以及全脑三维扫描影像。采用组块设计方法分别给予右小腿近踝部震动触觉刺激。所有图像均采用统计参数图5(SPM5)进行后处理,利用SPM5二次统计模块进行聋儿组与对照组的组内分析和组间比较。结果 聋儿组患儿在给予右小腿近踝部震动触觉刺激时,双侧颞横回、颞上回(BA41区、BA42/22区)可见明显激活。对照组在给予相同刺激时听觉中枢激活不明显。语言中枢包括额中回、额下回、颞上回、颞中回、角回,可见明显激活。聋儿组与对照组进行组间比较发现,聋儿组数据减去对照组数据时可见激活的脑区主要有双侧颞横回、双侧颞上回。结论 震动触觉刺激fMRI可用于评价先天性感音神经性耳聋婴幼儿听觉及语言相关脑区功能。     

Successive ipsilateral surgery of Vibrant Soundbridge and Bonebridge devices for congenital bilateral conductive hearing loss: a case report

The Bonebridge and Vibrant Soundbridge systems are semi-implanted hearing devices, which have been widely applied in patients with congenital conductive hearing loss. However, comparison between these two hearing devices is rare, especially in the same patient. We report a 23-year-old man who underwent successive implantation of Vibrant Soundbridge and Bonebridge devices in the same ear because of dysfunction of the Vibrant Soundbridge. We provide insight on the patient’s experience and compare the audiological and subjective outcomes of satisfaction.     

Treatment of Deafness

There are two basic types of hearing impairment, conductive and sensorineural. Usually, there is no specific treatment for sensorineural losses and prevention is important. The history and examination and the use of a C512 tuning fork will usually indicate the type of hearing loss. A complete audiometric evaluation is necessary before initiating treatment. Most types of conductive hearing impairment are amenable to surgical treatment. Where surgical or medical treatment is not indicated, a hearing aid may be of benefit.     

多频稳态诱发电位测试对中重度以下听力损失的评估价值

背景:多频稳态诱发电位测试是近年来应用于临床的客观听力检查方法。与以往的听性脑干诱发电位检查比较,多频稳态诱发电位测试具有频率特异性。目的:了解多频稳态诱发电位测试在客观听力评价中的准确性。设计:病例-对照观察。单位:中山大学附属第一医院耳鼻咽喉科。对象:听力正常组为在校大学学生21人42耳,无任何耳科疾病症状,无噪声暴露史及前庭系统疾病,耳镜检查正常。感音神经性聋患者均为在中山大学附属第一医院耳鼻咽喉科门诊和住院部求治的病例,均行磁共振检查排除中枢性病变;疾病种类主要为:突发性耳聋6例耳、老年性耳聋8例耳,其他不明原因的感音神经性耳聋20例耳,按纯音测听结果均为平坦型或渐降型听力图,按听力损害程度分3组,轻度聋组13例耳、中度聋组9例耳和中重度聋组12例耳。方法:①在隔音室内采用纯音测听检查,测试方法按0.125～8000Hz各倍频程的纯音测听,听力正常者的听阈级符合GB-7583-87期望值分布标准。感音神经性聋病例的纯音测听气导听力阈值取0.5,1,2和4kHz4个频率的均值。②在声电磁屏蔽室内进行多频稳态诱发电位检查,采用双耳同一刺激强度、相同4个载频音0.5,1,2和4kHz共8个点同步刺激模式。③在声电磁屏蔽室内进行听性脑干诱发电位检查,采用刺激声为疏波短声,使用插入式耳机,阈值结果判定按取可辨别出Ⅴ波的最小刺激声强度。④以纯音测听结果和听性脑干诱发电位检查结果为参照对比,将不同听力水平组的多频稳态诱发电位测试结果进行方差分析、Bayers准则下分类资料的多类判别分析和q检验。主要观察指标:纯音测听阈值、频稳态诱发电位测试阈值和听性脑干诱发电位检查阈值,Bayers准则下多类判别分析的正确率。结果:正常听力组42例耳及轻度聋组13例耳、中度聋组9例耳和中重度聋组12例耳均测出各项指标,全部进入结果分析。①听性脑干反应值与实际听力水平相符合,与多频稳态诱发电位1.0～2.0kHz的阈值最为接近;不同频率的多频稳态诱发电位的引出率随着听力损害的加重而逐渐降低熏听力正常或轻度聋者多频稳态诱发电位的引出率均为100%,而中度、中重度聋组的引出率有所下降(0.5kHz时,分别为77.8%和92.8%;4kHz时,分别为88.9%和85.7%)。不同频率时,中重度聋组的多频稳态诱发电位阈值显著高于听力正常组,差异有显著性意义(P<0.05);0.5kHz及4kHz时中重度聋组的多频稳态诱发电位阈值显著高于轻度聋组,差异有显著性意义(P<0.05);2kHz时轻度聋组的多频稳态诱发电位阈值显著高于听力正常组,差异均有显著性意义(P<0.05);4kHz时中度聋组的多频稳态诱发电位阈值显著高于听力正常组和轻度聋组,差异均有显著性意义。②由多频稳态诱发电位检查结果和实际纯音测听的组别经交互聚类判别纯音测听结果所犯的判断错误,听力正常组的判别符合正确率为100%;轻度聋组12例中仅有1例错判,正确率为92%;中度聋组9例中1例错判,正确率为89%,中重度聋组判别正确率为83%。结论:由多频稳态诱发电位测试结果可推测以纯音测听结果为标准的客观听力状况所犯的判别错误,多频稳态诱发电位测试在客观听力评价中对轻度聋以上的有较好的准确率,在实际应用中有较好应用前景。     

Usher's syndrome with unusual otologic manifestations.

Usher's syndrome is characterized by a congenital hearing loss and retinitis pigmentosa. Ocular symptoms and signs are usually established at adolescence, and the hearing loss, the onset of which is at a young age, generally remains stable. The following case is of interest, therefore, because the hearing loss that had been present since birth progressed suddenly to total bilateral deafness in adulthood. There were no ocular symptoms at any time; the classic findings of retinitis pigmentosa were disclosed only on routine examination of the eyes.     

Differential diagnosis and treatment of hearing loss

Hearing loss is a common problem that can occur at any age and makes verbal communication difficult. The ear is divided anatomically into three sections (external, middle, and inner), and pathology contributing to hearing loss may strike one or more sections. Hearing loss can be categorized as conductive, sensorineural, or both. Leading causes of conductive hearing loss include cerumen impaction, otitis media, and otosclerosis. Leading causes of sensorineural hearing loss include inherited disorders, noise exposure, and presbycusis. An understanding of the indications for medical management, surgical treatment, and amplification can help the family physician provide more effective care for these patients.     

Inner ear cell therapy for hereditary deafness with multipotent stem cells

Congenital deafness affects about 1 in 1000 children and the half of them have genetic background such as connexin26 gene mutation. The strategy to rescue such hereditary deafness has not been developed yet. Inner ear cell therapy for hereditary deafness has been studied using some laboratory animals and multipotent stem cells, although the successful reports for the hearing recovery accompanied with supplementation of the normal functional cells followed by tissue repair and recovery of the cellular/molecular functions have been still few. To succeed in hearing recovery by inner ear cell therapy, appropriate cell type, surgical approach and the stem cell homing system to the niche are thought to be required.     

Otosclerosis 1: the aetiopathogenesis of otosclerosis

Otosclerosis is a bone dystrophy localised to the inner ear and the stapes footplate. Otosclerosis is a frequent cause of deafness in adults. The patient with otosclerosis typically presents with a history of slowly progressive conductive or mixed hearing loss that is usually bilateral and often asymmetric, usually between the ages of 15 and 45 years. The disease is characterised by alternating phases of bone resorption and formation. The majority of studies on families with otosclerosis suggest an autosomal dominant mode of inheritance with incomplete penetrance.     

筛查非综合征性耳聋患者的内耳特异表达蛋白otospiralin基因突变

目的　Otospiralin基因是表达于内耳支持细胞 ,该基因表达下调可导致耳聋。本文旨在调查otospiralin这种特异表达于耳蜗组织的基因突变是否会导致人类非综合征性耳聋。方法　采用PCR SSCP的方法 ,对 15 1例先天性耳聋的病例和 1个感音神经性耳聋家系进行otospiralin编码区序列的基因突变位点的筛选。结果　 15 0例患者和 5 0例正常人样本有正常PCR扩增产物 ,但SSCP分析没有一例有异常迁移带。结论　表达于耳蜗间质的成纤维细胞的oto spiralin基因没有与耳聋连锁的突变位点。推测这个基因在内耳的表达缺乏可能是毛细胞丢失的主要原因。     

镍钛记忆合金支架预防外耳道重建后再闭锁8例

背景：寻找能有效地克服外耳道重建术后再闭锁的方法。 目的：观察镍钛记忆合金渡膜扩张支架预防外耳道重建后再闭锁的作用。 设计、时间及地点：病例分析，2001—01／2003-06中山大学附属第三医院耳鼻咽喉-头颈外科病例资料。 对象：选择外耳道闭锁患者8例，其中先天性闭锁5耳，3耳后天性外耳道闭锁。8耳均有不同程度的传导性听力下降。 方法：外耳道成形术中，应用镍钛记忆合金渡膜支架扩张新建外耳道。 主要观察指标：新建外耳道直径，术后纯音听阈。 结果：8耳外耳道闭锁患者均获得宽大、光滑的外耳道，未见术后瘢痕挛缩和再闭锁现象；术后7耳纯音听闽提高。 结论：镍钛记忆合金渡膜支架对于预防外耳道重建后再闭锁有一定的作用。     

Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards

Congenital human cytomegalovirus (HCMV) infection affects 1% of children and is the most common infectious cause of sensorineural hearing loss. Due to the difficulty of diagnosing deafness and other neurological disorders in infants, affected individuals may not be recognized until much later when active infection has resolved and culture is no longer informative. To overcome this problem, congenital HCMV infection was diagnosed retrospectively by testing residual blood samples collected from newborns and dried on perinatal cards as part of the North Carolina Newborn Screening Program. We modified the Qiagen method for purifying DNA from dried blood spots to increase the sample size and recovery of the lysate. A multiplex, real-time TaqMan polymerase chain reaction assay on an ABI 7900 instrument measured a highly conserved segment of the HCMV polymerase gene and the APOB human control gene. HCMV DNA was detected in blood dried on perinatal cards from all seven infants with culture-proven congenital infection, and all 24 negative control cases lacked detectable HCMV DNA. Our findings suggest that it is possible to diagnose congenital HCMV infection using dried blood collected up to 20 months earlier. Further studies are warranted on patients with hearing loss or other neurological deficits to determine the percentage that is attributable to congenital HCMV infection.     

新生儿耳聋基因筛查与听力筛查结果分析

目的探讨新生儿耳聋基因筛查在新生儿耳聋诊断中的应用价值.方法对2013年1月-2015年1月在我院分娩的5000例新生儿均采集脐带血,采用飞行时间质谱技术检测国内常见耳聋基因及对应点位.新生儿出生48 h后行听力筛查.按照筛查结果将新生儿分为随诊组(4891例)、高度预警组(46例)、听力学诊断组(38例)、耳聋组(25例)4组,均按照听力随访频次随访听力至3岁.以3岁时随访的听力诊断结果为金标准,计算听力筛查法、耳聋基因筛查法及二者联合筛查3种方式诊断新生儿耳聋的特异度、灵敏度及准确度.采用spearson相关性分析新生儿听力筛查与耳聋基因筛查结果的相关性,听力筛查与听力诊断结果、基因筛查与听力诊断结果的相关性.结果随访3 a,本组5000例新生儿耳聋基因筛查阳性率为1.42%;随诊组中未诊断出听力障碍,高度预警组中确诊听力障碍3例(6.52%),听力学诊断组确诊听力障碍5例(13.18%),耳聋组确诊听力障碍8例(24.00%);耳聋组听力障碍检出率显著高于高度预警组和听力学诊断组(P<0.05).耳聋基因联合听力筛查诊断新生儿耳聋的灵敏度高于单纯听力学诊断、耳聋基因诊断;而联合诊断法的特异度、准确度低于单一诊断方法.Spearson分析结果显示,听力筛查、基因筛查与耳聋确诊的相关系数分别为0.849、0.813,听力筛查与基因筛查的相关系数为0.738,均呈显著正相关(P<0.05).结论新生儿听力联合耳聋基因筛查能显著提高新生儿听力障碍的检出率,为新生儿后续语言、听力等系统早期干预提供指导,有利于新生儿心身健康成长.     

156例突发性耳聋病人的护理

[目的]总结突发性耳聋病人的临床护理.[方法]回顾性分析156例突发性耳聋病人的临床治疗护理资料.[结果]124例病人的听力完全恢复,32例病人听力得到改善.[结论]加强突发性耳聋病人的护理对病人听力的回复与改善非常重要.     

幼儿言语障碍病因探讨

目的了解幼儿言语障碍与耳聋发病情况。方法对78例言语障碍患儿进行病因问卷调查并行ABR听阈测试。结果被调查患儿中先天性耳聋23例、家族耳聋遗传史15例、CT确诊大脑发育不全13例、有核黄疸史3例、窒息史8例、高热抽搐史2例、有明确使用过耳毒性药物史5例、不明原因9例。ABR检测反应阈升高62例(79．5％)124只耳，大脑发育不全引起的言语障碍患儿ABR多为正常。结论言语障碍的主要原因是听力下隆．若反府阈为重度和极重摩．应及早选配助听器.     

地塞米松联合高压氧治疗突聋患者的临床效果及对听力的影响

目的分析地塞米松联合高压氧治疗突聋患者的临床效果及对听力的影响。方法选取我院2018年3月至2020年3月收治的86例突聋患者作为研究对象,依据治疗方法将其分为对照组与研究组,各43例。对照组给予地塞米松治疗,研究组在对照组的基础上给予高压氧治疗。比较两组患者治疗前、后的血液流变学指标、听力阈值及临床疗效。结果治疗后,两组的PV、RCAI、FIB水平均降低,且研究组低于对照组(P<0.05)。治疗后,两组的1、2、4 kHz听力阈值均降低,且研究组低于对照组(P<0.05)。研究组的治疗总有效率高于对照组(P<0.05)。结论地塞米松联合高压氧治疗突聋的效果显著,可改善患者的血液流变学指标与听力功能,值得临床推广应用。     

地塞米松联合前列地尔治疗突发性耳聋对患者听力功能的改善效果

目的分析地塞米松联合前列地尔治疗突发性耳聋对患者听力功能的改善效果。方法将2014年1月至2019年1月我院收治的116例突发性耳聋患者按治疗方式分为对照组与观察组,各58例。对照组给予前列地尔治疗,观察组在此基础上给予地塞米松治疗。比较两组患者的疗效。结果观察组患者的治疗总有效率高于对照组(P<0.05);治疗后,两组患者的PV、FIB水平、RCAI及1、2、4 kHz听力阈值均降低,生活质量评分均升高,且观察组优于对照组(P<0.05)。结论地塞米松联合前列地尔治疗突发性耳聋的效果显著,可改善血液流变学,提高听力功能。     

心理干预对突发性耳聋治疗效果的影响

目的探讨心理护理在突发性耳聋治疗中的作用。方法65例突发性耳聋患者,随机分成2组,对照组(n=32)仅用药物治疗,观察组(n=33)除应用药物治疗外,系统心理干预治疗,治疗前后分别检测听力、血肾上腺素(E)、去甲肾上腺素(NE)水平。结果治疗后2组的听力均有所提高,但观察组听力提高更明显(P<0.05)。2组的E和NE水平均有所下降,但观察组下降更明显(P<0.05)。结论心理干预能明显降低血浆儿茶酚胺浓度,扩张血管,改善微循环,明显提高突发性耳聋患者的听力。