一个鳃-耳-肾综合征家系EY A1基因新致病性变异

目的 研究一个鳃-耳-肾综合征(branchio-oto-renal,BOR)家系的临床表型及遗传学特征.方法 通过家系调查、临床检查和遗传学特征分析,对一个鳃-耳-肾综合征家系的临床表型及致病原因进行系统研究,提取家系成员的外周血DNA,采用遗传性耳聋基因芯片进行最常见的GJB2(135 del G、176 del ...     

鳃-耳-肾综合征家系EYA1基因一个新的外显子重复变异

目的:为一临床诊断为鳃-耳-肾综合征的中国家系寻找致病基因及位点.方法:回顾性分析1个鳃-耳-肾综合征核心家系的临床特征及治疗经过;应用全外显子测序技术(WES)对先证者进行全外显子水平突变分析,其中部分外显子缺失/重复利用荧光定量PCR方法(Realtime-PCR)验证.结果:该家系中先证者,男,4岁1个月,有耳聋...     

鳃-耳-肾综合征1例并文献复习

<正>1病例资料患者男,8岁,以“出生后双耳听筛未通过、双侧耳廓畸形、右侧渐进性周围性面瘫”入院。患儿自出生后行双耳听筛未通过,1岁左右可以正常学习说话,家长未进一步评估其听力情况,2年前上学后家长及老师发现患儿双耳听力明显弱于正常儿童,同时右侧周围性面瘫渐进性加重。专科查体：双侧杯状耳,右侧耳屏前见副耳,双侧耳轮脚前方各见一瘘孔,周围皮肤正常,无异常分泌物。左侧外耳道狭窄,右侧正常,双侧鼓膜完整,标志清。音叉RT:BC>AC;WT→R。     

鳃-耳综合征一家系临床表型及遗传学特征分析

目的探讨一个鳃-耳综合征家系的表型特征,进行候选致病基因的突变筛查。方法经知情同意,对调查对象进行全身检查以及听力学和颞骨CT评估,获得血样标本;整理分析家系资料并绘制系谱图;用基因组DNA提取试剂盒提取外周血DNA,进行鳃-耳-肾综合征相关基因EYA1、SIX1和SIX5全编码外显子的序列分析。结果该家系共4代31人,7人具有鳃-耳-肾综合征相关症状,系谱分析符合常染色体显性遗传特征。6名患者主诉听力下降,为最常见临床表现,其它症状有耳前瘘管2人次、鳃裂瘘3人次和耳廓畸形4人次,均无肾脏畸形表现。2名患者纯音听力图示双耳混合性聋,颞骨CT检查见中耳和内耳发育异常,候选致病基因筛查均检测到EYA1 c.922C>T突变。结论该家系表型特征符合鳃-耳综合征诊断,但家系内患病个体间临床表现具有异质性。EYA1 c.922C>T突变是本家系致病的主要分子基础。     

鳃裂-耳-肾综合征

鳃裂 -耳 -肾综合征 (Ｂｒａｎｃｈｉｏ -ｏｔｏ -ｒｅｎａｌｓｙｎｄｒｏｍｅ,ＢＯＲ)系因第一、二鳃弓发育异常、听力障碍、泌尿系统畸形而得名。ＢＯＲ是一种罕见的常染色体显性遗传疾病 ,发病率为 1:40 0 0 0 ,在深度聋儿中占 2 % [1] 。 1975年Ｍｅｌｎｉｃｋ首次报道一家系表现杯状耳、耳前凹、混合性聋、鳃裂瘘管、双肾收集系统畸形。此后陆续有关于该病的报道。近年随着基因分子生物学的发展 ,定位克隆了ＢＯＲ的致病基因 ,即ＥＹＡ1基因 ,为ＢＯＲ的诊断提供了更直接的方法。1　临床表现和实验室检查1 1　耳异常 :耳部异常包括耳发…     

耳鸣与耳声发射

为探讨耳鸣的产生原因和客观检测手段以及耳鸣与耳声发射（ＯＡＥ）的关系，报道耳鸣患者的２７３例（３０６耳）畸变产物耳声发射（ＤＰＯＡＥ），自发性耳声发射（ＳＯＡＥ）和瞬态诱发性耳声发射（ＴＥＯＡＥ）的特点，结果提示：（１）耳鸣频率与ＳＯＡＥ频率不一致，（２）９４．８％感音神经性聋性耳鸣患者ＤＰＯＡＥ图在相应频率有振幅下降或缺失，５９％听力正常耳鸣耳出现某些频率ＤＰＯＡＥ振幅下降和反应缺失，且不能记录     

耳蜗性耳硬化症的研究进展

耳蜗性耳硬化症是指耳硬化灶累及耳蜗骨内膜层,引起感音神经性听力损失或混合型听力损失,在影像学上表现为特征性的“双环征”。其治疗方案包括药物治疗,镫骨手术,佩戴助听器以及人工耳蜗植入术。治疗时需根据患者的临床资料选择合适的治疗方案,在人工耳蜗植入术时注意其可能出现的并发症。     

82耳鼓膜完整的传导性聋耳内镜下听骨链重建疗效观察

目的 分析总结77例(82耳)鼓膜完整的传导性聋患者的临床表现、听力学特点及耳内镜听骨链重建术的疗效.方法 回顾性分析安徽医科大学第一附属医院2016年2月到2019年2月期间收治并行耳内镜听骨链重建术的77例(82耳)鼓膜完整的传导性聋患者的资料.总结分析其病史、临床表现、听力学评估、术中探查及耳内镜听力重建疗效.结...     

耳声发射正常的听觉障碍类型

目的：分析总结临床中耳声发射正常的听觉障碍类型。方法：对83例听觉障碍患者行纯音听阈、阻抗、听性脑干反应（ABR）、40Hz AERP、自发性耳声发射（SOAE）、瞬态耳声发射（TEOAE）、畸变产物耳声发射（DPOAE）测试及CT和（或）MRI扫描。结果：耳声发射（OAE）正常的听觉障碍包括：①听神经病68例;②听神经瘤2例;③皮层聋或中枢性聋3例;④听觉过敏2例;⑤功能性聋2例;⑥伪聋6例。结论：耳声发射检测在蜗后性聋、中枢性聋、非器质性聋和其他一些特殊类型听觉障碍的诊断和鉴别诊断中具有重要临床意义。     

耳鸣与耳声发射

为探讨耳鸣的产生原因和客观检测手段以及耳鸣与耳声发射（ＯＡＥ）的关系，报道耳鸣患者２７３例（３０６耳）畸变产物耳声发射（ＤＰＯＡＥ）、自发性耳声发射（ＳＯＡＥ）和瞬态诱发性耳声发射（ＴＥＯＡＥ）的特点。结果提示：①耳鸣频率与ＳＯＡＥ频率不一致；②９４．８％感音神经性聋伴耳鸣患者ＤＰＯＡＥ图在相应频率有振幅下降或缺失，５９％听力正常耳鸣耳出现某些频率ＤＰＯＡＥ振幅下降和反应缺失，且不能记录到ＳＯＡＥ，而在ＳＯＡＥ频率附近ＤＰＯＡＥ有良好反应高峰。耳声发射可望用于发现早期耳蜗病变。     

Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome

A rare manifestation of branchio-oto-renal like syndrome as an isolated finding with normal chromosomal analysis in a 6 year old child with bilateral branchial simises, bilateral pre-auricular simuses, bilateral auricular malformation, and bilateral hearing loss is presented here.     

基因拷贝数变异在遗传性耳聋研究中的进展

耳聋是最常见的严重影响言语交流的残疾之一,每年至少有一半的新生聋儿是由于遗传缺陷引起的.引起耳聋的致病基因和突变种类众多,其中,基因拷贝数变异(Copy Number Variations,CNVs)被确认为是广泛存在于人类基因组DNA的重要变异形式,并且可以通过干扰基因表达来调控表型,是影响人类某些疾病的重要因素,其...     

Cochlear implant in a subject affected by the Chudley-McCullough Syndrome

Objectives: The Chudley-McCullough Syndrome (CMS) is a rare autosomal-recessively inherited disorder caused by mutations in the GPSM2 gene, characterised by deafness and brain anomalies. The purpose of this paper is to report about a case of cochlear implant (CI) procedure in a subject affected by CMS.

Methods: A 31-year-old subject affected by CMS referred to our centre requiring an evaluation for a CI, as the results with her hearing aids, which she had been using since she was 2-years-old, were unsatisfactory. A profound bilateral sensorineural hearing loss was pointed out. Pure tone audiometry in free field with hearing aids and speech perception results were poor. The subject was counselled about the surgical procedure and the surgery was performed with no complications.

Results: The cochlear implant was switched on 22 days after surgery and the subject began speech therapy training. After 1 year, hearing and speech perception results were satisfactory. The hearing threshold in free field with the CI was around 30?dB, and the open set speech perception score reached 55% in silence.

Conclusions: The reported case demonstrates that CI is a feasible and safe procedure in subjects with CMS. Furthermore, since satisfactory hearing and speech perception results were achieved we recognise that cochlear implant should be considered the best option for hearing restoration in subjects with CMS and profound sensorineural hearing loss.     

Waardenburg syndrome

We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of skin and hearing loss.Here we report a patient having severe bilateral hearing loss with pigmentary disturbances.     

隐性听力损失听力学特点及研究进展

近年来随着生活水平的提高,以"听力正常但有耳鸣或能听到但听不清"为主诉就诊的患者逐渐增多,目前上述患者发病机制及部位尚不明确,有研究认为此类患者存在隐性听力损失(Hidden Hearing Loss,HHL),本文旨在介绍隐性听力损失的听力学特点,为后续相关的科研研究提供研究方向及基础.     

Effect of Hearing Rehabilitation Therapy Program in Hearing Aid Users: A Prospective Randomized Controlled Study

ObjectivesDespite sufficient hearing gains, many patients with hearing loss have difficulty using hearing aids due to poor word recognition ability. This study was performed to introduce our hearing rehabilitation therapy (HRT) program for hearing aid users and to evaluate its effect on hearing improvement.MethodsIn this prospective randomized case-control study, 37 participants with moderate or moderate-severe sensorineural hearing loss who had used bilateral hearing aids for more than 3 months with sufficient functional hearing gain were enrolled in this study. Nineteen participants were randomly assigned to the control group (CG) and 18 patients were assigned to participate in our HRT program once a week for 8 consecutive weeks (hearing rehabilitation therapy group [HRTG]). Their hearing results and questionnaire scores for hearing handicap and hearing aid outcomes were prospectively collected and compared between the two groups.ResultsAfter completing 8 weeks of the HRT program, the HRTG showed a significantly greater improvement in scores for consonant-only and consonant-vowel sound perception than the CG (P<0.05). In addition, the HRTG showed a significant improvement in hearing ability as measured by two questionnaires (P<0.05), while no differences were observed in the CG. However, word and sentence recognition test results did not show significant differences between the two groups.ConclusionEven after short-term HRT, patients had subjectively better hearing outcomes and improved phoneme perception ability; this provides scientific evidence regarding a possible positive role for HRT programs in hearing aid users. Further validation in a larger population through a long-term follow-up study is needed.     

感音神经性听力损失与听神经病谱系障碍患者频率选择特异性研究

目的　评价感音神经性听力损失患者（耳蜗病变）与听神经病谱系障碍患者听觉系统的频率选择特异性,对比说明不同类型听力损失对听觉系统频率选择特异性的影响。方法　使用测量心理物理调谐曲线（psychophysical tuning curve,PTC）的方法评价频率选择特异性,即当存在一个纯音信号,其频率和强度保持不变,加入另一个窄带噪声,噪声的中心频率和强度均发生变化,通过改变噪声的中心频率与强度掩蔽纯音信号,由此获得的窄带噪声中心频率与其强度的关系曲线。PTC越窄,尖部越尖锐说明频率选择特异性越好,使用测试频率与PTC曲线最小强度上10 dB的曲线宽度的比值（Q10 dB）评价PTC曲线的尖锐程度。选取听力正常受试者11名,感音神经性听力损失受试者14例,听神经病谱系障碍患者17例,测量3个组受试者双耳在500 Hz和1000 Hz处的心理物理调谐曲线。结果　听力正常受试者平均Q10 dB结果为3.4±0.9,感音神经性听力损失受试者平均Q10 dB结果为1.8±0.4,听神经病谱系障碍受试者平均Q10 dB结果为3.5±1.0。听神经病谱系障碍患者组Q10 dB结果与听力正常组Q10 dB结果间无显著性差异（P >0.05）,而感音神经性听力损失组Q10 dB结果与听力正常组（F =34.90,P <0.001）和听神经病谱系障碍组Q10 dB结果间均存在显著性差异（F =31.09,P <0.001）。结论　耳蜗病变会导致频率选择特异性障碍,而听神经病谱系障碍患 者听觉系统的频率选择特异性可能基本正常。     

听力相关疾病成人患者的年龄因素分析

目的对因听力相关疾病就诊的成人患者年龄因素进行分析,了解听力损失年龄分布特征,为听力损失的预防及干预策略的制定提供依据。方法对首都医科大学附属北京同仁医院临床听力学中心2009年6月1日至2009年8月31日因听力相关疾病就诊的3 018例成人患者的年龄分布进行分析,并比较不同听力损失程度、听力损失类型、听力曲线类型的年龄分布特征。结果①患者年龄分布集中于41~60岁,占全体就诊患者的44.70%;②除正常听力外,轻度、中度、重度和极重度听力损失分布比例最高的年龄范围均为51~60岁;③传导性听力损失主要分布在低年龄范围,感音神经性和混合性听力损失分布比例最高的年龄范围均为51~60岁;④陡降型听力损失分布比例最高的年龄范围为51~60岁,平坦型和"U"型听力损失在60岁以下呈均衡分布。结论成人听力损失在程度、类型及听力曲线类型上均呈现出明显的年龄分布特征,感音神经性及混合性听力损失及听阈曲线为陡降型者以51~60岁年龄段为多见。