慢性甲基汞中毒性耳聋的听力学特征

慢性甲基汞中毒性耳聋的听力学特征侯铁宁，郭晓峰，周凤书长期大量食入被甲基汞污染的鱼可致人体中毒，５０年代日本发生震惊世界的水俣病事件就是甲基汞中毒所致。自１９７５年起，我们对松花江吉林省江段的渔民进行甲基汞中毒的流行病学调查。现对其中确诊由慢性甲基汞...     

听觉神经病的临床及听力学特征

听觉神经病特点是:听觉脑干诱发电位(ABR)缺失或严重异常,但耳蜗电图(CM)以及耳声发射(OAEs)存在。该病在感音神经性聋患者中的所占百分比尚不清楚,Davis等在200例感音神经性聋患者中发现1例患者(0.5％),Kraus等和Rance等分别报道约     

Y-连锁遗传性耳聋:中国一大家系的听力学表型特征

目的进行Y-连锁遗传性耳聋(DFNY1)家系的听力学表型特征分析.方法对DFNY1家系中的50名成员进行的听力学检查,包括Madsen 502便携式听力计(丹麦),EAR-3A插入式耳机(美国)进行家系成员的纯音测听检查;Madsen901(丹麦)声导抗检测仪进行鼓室图及镫骨肌反射的检测;便携式听性脑干诱发电位仪(SmartEPIntelligent Hearing Systems,America.)进行听性脑干诱发电位检测.家系的表型特征根据听力损失的程度定义为耳聋和非耳聋.结果接受听力检测的50名家系成员中发现耳聋患者21名,其中20名为家系中的直系男性,1名为女性.发病年龄在7-27岁之间,平均为12.7岁;67%耳聋患者的听力曲线表现为高频下降型曲线,听力曲线的结构具有相似性.结论本文报道了中国DFNY1耳聋大家系的耳聋患者听力学表型特征为双侧、对称性、学语后的感音神经性听力损失,家系中耳聋患者的听力表型具有均一性,这些特征进一步说明DFNY1家系的致聋基因为单一致病基因.     

强直性脊柱炎患者的听力学及抗膜迷路蛋白抗体的检测

目的 对强直性脊柱炎（ａｎｋｙｌｏｓｉｎｇ ｓｐｏｎｄｙｌｉｔｉｓ,ＡＳ）患者进行听力学检测并分析听力减退的特点。方法 采用问卷调查、临床耳鼻咽喉科检查、听力学测试、抗膜迷路抗体检查、血清免疫学检查方法,对确诊为ＡＳ的３４例（６８耳）患者的临床资料加以分析。结果 ３４例中主诉听力减退１１例,纯音测听发现听力减退２４例（４１耳）,占６０．３％（４１／６８）,２耳见鼓膜穿孔为混合性聋,３９耳为感生聋,     

耳聋治疗及康复中需要注意的几个问题

近年来耳聋的治疗方法以及听力语言康复手段都有了长足的发展,在这种形势下,我们从事听力学专业的医师和听力语言康复工作者应该不断更新知识,掌握最先进的治疗和康复手段,把这项有意义的事业做得更好。为此,我们将谈谈多年来对耳聋治疗及听力语言康复工作的体会。     

听力复筛未通过儿童的听力学诊断及常见耳聋基因筛查结果分析

目的 分析听力复筛未通过儿童听力障碍发生率及常见耳聋基因检出情况,探讨耳聋基因与听力表型的关系,为耳聋基因诊断和遗传咨询提供参考。方法 天津市妇女儿童保健中心听力复筛未通过儿童2002人,所有儿童进行听力学诊断和常见耳聋基因检测。结果 2002例儿童听力障碍发生率50.35%,基因突变检出率17.08%;听力障碍儿童耳聋基因突变检出率23.71%。GJB2基因、SLC26A4基因、GJB3基因及线粒体12SrRNA的突变检出率分别为9.34%、6.34%、0.45%和0.45%。GJB2基因突变率双耳聋高于单耳聋（χ2=39.29,P<0.05）;对称性聋高于非对称性聋（χ2=11.24,P<0.05）。SLC26A4基因突变率双耳聋高于单耳聋（χ2=27.72,P<0.05）。重度极重度耳聋GJB2和SLC26A4基因突变检出较高。结论 听力复筛未通过儿童应及时进行听力学诊断及耳聋基因筛查。GJB2和SLC26A4是天津地区听力复筛未通过儿童常见的突变基因,其基因型相关的听力表型多表现双耳重度聋。本研究丰富了特定人群的耳聋基因突变情况,为遗传学咨询提供了数据资料。     

第二十二届美国听力学年会报道——全球背景下发展的听力学

听力学虽然诞生于美国,但其发展却植根于世界。刚刚在美国圣地亚哥落下帷幕的第二十二届美国听力学年会．以其丰富的科研技术成果和多元化的学术交流,再次诠释了听力学所具有的全球性内涵。作为一门研究人类听觉感官能力和应用的独立学科,听力学显然已经彻底突破了语言、文化和国家的限制。     

听骨链畸形患者的听力学特征及耳内镜手术效果

目的　探讨听骨链畸形患者的听力学特征和耳内镜手术效果分析。方法　对35例（38耳）听骨链畸形患者行手术前后纯音听力测试,并对听骨链畸形根据Cremers Classification分型,对各个分型进行听力学特征分析。35例（38耳）均在耳内镜下进行手术,其中13耳行人工镫骨置换术,17耳行鼓室成形Ⅱ型术,8耳行鼓室成形Ⅲ型术。通过比较手术前后气骨导差变化来分析术后效果。结果　析35例（38耳）听骨链畸形患者的纯音测听。结果,2000 Hz骨导听阈处有明显听阈下降。35例（38耳）听骨链畸形患者,11耳为镫骨底板固定（Ⅱa）,占29.0%,平均气骨导差为（44.6±7.5）dB HL。2耳为镫骨底板固定伴砧镫关节假连接或固定（Ⅱb）,占5.3%,平均气骨导差为（42.9±8.9）dB HL。17耳为镫骨畸形但底板可活动（Ⅲa）,占44.7%,平均气骨导差为（37.8±9.7）dB HL;4耳为镫骨底板可活动但伴砧镫关节假连接或固定（Ⅲb）,约占10.5%,平均气骨导差为（34.1±10.6）dB HL;4耳为镫骨底板可活动但锤砧关节假连接或固定（Ⅲc）,约占10.5%,平均气骨导差为（39.0±7.8）dB HL。耳内镜术后3个月,行人工镫骨置换术者平均气骨导差为（21.0±11.4）dB HL,较术前缩小（24.0±11.1）dB HL;行Ⅱ型鼓室成形术者平均气骨导差为（17.1±10.5）dB HL,较术前缩小（20.0±8.3）dB HL;行Ⅲ型鼓室成形术者平均气骨导差为（22.0±14.1）dB HL,较 术前缩小（20.0±13.0）dB HL。结论　先天性听骨链畸形患者的纯音测听结果中,2000 Hz骨导听阈有明显的听阈下降,在听力图上呈现与耳硬化症相似的V型切迹形状。先天性听骨链畸形分型中,先天性镫骨底板活动伴听小骨畸形为常见。采用耳内镜下不同手术方法进行治疗可明显提高听力,缩小气骨导差。     

感音神经性耳聋的预防及治疗

人类耳蜗有内外两种毛细胞。内毛细胞把外界传人内耳的声信号转换成电信号。外毛细胞对声信号起到协调作用。听觉神经元把电信号进一步传人听觉通道，最后传人听觉中枢。不幸的是，无论毛细胞或听神经元的损伤都可导致永久性不可逆转的感音神经性耳聋。占人类10％以上的成年人群都患有不同程度的感音神经性耳聋，随着世界人1：3的老龄化，耳聋占人类群体的比例会进一步上升。     

畅听未来项目的发展——国际听力学及培训中心

1畅听未来项目与听力学的临床．科研和培训发展 近几年来，我国政府和相关机构做了大量工作，加大了专业人员的培训及培训指导力度，以全面提升专业人员岗位实践能力和服务水平为目标，建立从中央到地方的二级职前、在职培训机制^[1]，医院系统也积极开展各项工作。     

Genetics and molecular biology of deafness.

With increased emphasis on early detection of hearing impairment, more babies are likely to be referred at younger ages to otolaryngologists for evaluation. With a diminution in the number of infants who have hearing impairment as a result of such factors as maternal infection, neonatal sepsis, or ototoxicity, the relative importance of detecting a genetic cause of newborn hearing impairment is likely to increase. Therefore, the otolaryngologist must become familiar with common causes of hereditary hearing impairment and the ways in which the newborn should be evaluated for hereditary hearing impairment. Advancements are rapidly being made in the ability to detect genes that cause hearing impairment, and we are now on the threshold of discovering ways to use gene therapy to prevent or treat hereditary deafness.     

An overview of molecular biology in otolaryngology.

The molecular biology revolution is just beginning to bear fruit in medicine. This is an exciting time to be active in the field of biomedical research. It is also an exciting time for clinicians, watching the applications of our new-found knowledge to clinical specialties.     

Genetics and molecular biology of deafness. Update.

This article discusses the latest research in the molecular biology and genetics of hearing impairment and its importance to otolaryngologists. Recent research has led to the discovery of many of the genes and gene products that are responsible for hereditary hearing impairment. State mandated screening of newborn infants for hearing loss ensures that a large number of hearing-impaired children will be detected at a very early age. Additionally, these children often will be referred to the otolaryngologist for evaluation of the hearing impairment. It is the otolaryngologist who must gather a detailed family history and perform a thorough physical examination to fully assess the cause of the hearing impairment. In taking the family history, it is important to note that the diagnosis of a hereditary hearing impairment often involves the evaluation of a large-sized family that has a history of hearing disorders. A history of an affected individual in a small family does not necessarily support a diagnosis of hearing impairment in later affected offspring because of the small sample size. Often, a hearing impairment that is part of a syndrome may not be detected because the physical findings associated with a syndrome are subtle in a young infant. For example, the white forelock seen in patients with Waardenburg's syndrome type I cannot be visualized in the infant who lacks hair. Additionally, some patients with syndromic hearing impairment do not present with physical findings, but rather they exhibit abnormal laboratory studies. Additional points to remember include the following: As infectious iatrogenic causes of hearing impairment decrease, the relative incidence of hereditary hearing impairment will increase. Hereditary hearing impairment can present as an isolated finding, or in association with a number of anomalies recognizable as a syndrome. The study of genetics and molecular biology has led to the identification of genes associated with hearing impairment and will allow for future screening and possible therapy for the hearing-impaired. The screening of newborns for hearing impairment using the techniques of molecular biologists and geneticists will result in early identification and appropriate intervention for those at risk for hereditary hearing impairment. An understanding of the syndromic and nonsyndromic causes of hereditary hearing impairment can help the otolaryngologist make a diagnosis and provide appropriate audiologic and educational management to the patient.     

Laryngeal dysplasia: aetiology and molecular biology

Laryngeal premalignancy is a common clinical concern. While tobacco has long been established as the principal identifiable aetiological factor, the last two decades have seen publications investigating a potential role for gastroesophageal reflux, gastrectomy and human papilloma virus. Furthermore, there have been major advances in our understanding of the molecular biology of cancer and premalignancy. Accompanying this increased understanding, significant efforts have been made to correlate the expression of molecular markers with the clinical course of premalignant laryngeal lesions. This review summarizes current knowledge of the aetiological factors and molecular biology of laryngeal premalignancy. All aetiological factors, including molecular markers, are discussed separately and their possible role in the clinical course of these lesions is discussed.     

标准聋病分子诊断实验室的结构及功能

听力学和聋病的分子生物学方面的一些最新进展已经从实验室研究转化到临床领域并改进了对病人的治疗和护理,医师、听力学家以及患者及其家属对于耳聋分子病因基础的了解是非常重要的,聋病分子诊断实验室为耳科医师、听力学家及患者方提供了了解聋病分子病因的工具.本文介绍了现代标准聋病分子诊断实验室结构及其功能,解放军总医院聋病分子诊断中心的建立提供了聋病密切相关的GJB2、PDS、线粒体等基因的常规检测方法和场所,能够提供所有与聋病有关的已知基因的序列分析,可以开展未知耳聋基因的定位和克隆工作,帮助在全国建立聋病的基因诊断网络,以推动我国聋病的诊断和防治工作更上一个台阶.