世界卫生组织全球防聋合作中心战略计划会议在京召开

本刊讯由世界卫生组织主办,中国聋儿康复研究中心承办的世界卫生组织全球防聋合作中心战略计划会议于2013年4月23日～24日在北京召开。本次会议旨在推动落实世界卫生组织听力障碍预防工作规划,加强世界卫生组织及各防聋合作中心间的合作,拟定各合作中心未来2年的工作任务和计划。     

WHO全球防聋计划和我国的响应与作用

听力损失是全球流行最广的感觉器官致残性疾病,不仅影响个人和家庭,而且成为沉重的社会负担,是世界关注的重大公共卫生问题。《WHO全球防聋计划》明确提出了目的、任务、优先考虑、行动方案和期望成果。为保障计划完成,世界卫生大会再次通过了《预防聋和听力损失决议(WHA70.13)》,敦促成员国政府做出政治承诺,做好9项工作。我国和WHO密切合作,积极响应号召,不仅在国内做了大量工作,而且在全球发挥作用。     

WHO activities for prevention of deafness and hearing impairment in children.

This paper gives an overview of WHO activities in the global campaign for the prevention of deafness and hearing impairment, focusing particularly on children. It discusses the size of the problem and the causes and consequences of deafness and hearing impairment. It emphasizes the inadequate state of our knowledge of this subject in developing countries and the importance of collecting valid data. It describes the public health route to prevention of deafness and hearing impairment, especially through primary ear and hearing care, and outlines the World Health Organization's aims and activities for prevention of deafness and hearing impairment.     

预防听力损伤和耳聋人人享有健康听力--写在第七个全国"爱耳日"到来之际

我国政府历来十分重视人民的听力保健和耳聋预防工作。20世纪80年代，我国开始有组织、有计划、大规模地开展聋儿康复工作。2000年，国家确定每年的3月3日为全国“爱耳日”，并在此后的六年中以不同的主题有针对性地开展宣传教育活动．取得了明显的社会成效。     

Directional hearing of unilaterally hearing impaired--especially sense of sound direction in monaural hearing impairment and monaural deafness

I. OBJECTIVE. The present study was undertaken in order to determine the onset of monaural deafness, especially whether it is congenital or acquired, making an investigation into the sense of sound direction in monaural hearing impairment and monaural deafness and comparing them between hearing-impaired patients and normal hearers. II. SUBJECTS. This study was carried out on 26 patients with monaural hearing impairment, 22 patients with monaural deafness and 10 normal hearers. III. METHODS. A circle with a radius of 1.3m was drawn around a fixed patient's position in a sound proof room, and the circle was divided into 16 directions at an equal angle of 22.5 degrees. A blindfolded hearer was instructed to listen to a speaker for white noise of 60dB (A) for one second and verbally answer in which direction he heard the noise. The normal hearers were tested in 4-, 8-, and 16-directions, and the hearing-impaired patients were tested in only 8-directions. IV. RESULTS. 1. Normal Hearers The rate of correct answers decreased with increasing directions of sound. The incorrect answers in 4-direction testing were only confusion between forward and backward directions, and similar incorrect answers were made in 8- and 16-direction testing. All other incorrect answers were errors of less than 45 degrees. 2. Monaurally Hearing-impaired Patients The rate of correct answers on the whole was low. There was such a relationship between the rate of correct answers and the mean hearing level of patients that the total rate of correct answers decreased with increasing hearing impairment. This correlation was statistically significant, and there was a still more significant correlation between the degree of hearing impairment and the rate of correct answers as to the right and left directions. Incorrect answers were errors of 90 degrees or less on the healthy side, while errors were made for all directions on the affected side. 3. Monaurally Deaf Patients The rate of correct answers was by far lower on the affected side. Whereas many errors were within 45 degrees on the healthy side, errors were made for all directions on the affected side. Judging from the onset of hearing loss, the monaurally deaf patients were divided into a group of 8 patients who obviously had sudden acquired deafness and a group of 9 patients who were presumed to have congenital monaural deafness. The mean rate of correct answers of the former group was superior to the latter group's, particularly on the effected side.     

94例非综合征性耳聋患儿基因突变结果分析

目的分析非综合征性听力障碍儿童耳聋基因突变情况,从分子水平探究该人群聋病的遗传病因和特点,为早期诊断、治疗及预防先天性和遗传性耳聋提供科学依据。方法采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)技术,对天津市儿童听力障碍诊治中心诊断的94例非综合征性听力障碍儿童进行常见耳聋基因(GJB2、GJB3、SLC26A4、线粒体12Sr RNA)共20个突变位点的检测,并对检测结果及听力学资料进行统计学分析。结果94例研究对象皆为中度、重度及极重度感音神经性耳聋,其中双侧听力下降组73例,单侧听力下降组21例。94例患儿中31例(32.98%,31/94)检出携带耳聋易感基因突变,单基因纯合突变13例,单基因复合杂合突变9例,单杂合突变9例,其中双侧听力下降组耳聋基因阳性率(42.47%)明显高于单侧听力下降组(0.00%)(χ~2=13.31,P<0.01)。GJB2基因、SLC26A4基因、GJB3基因及12Sr RNA的突变检出率分别为17.02%、15.96%、0.00%和0.00%。GJB2阳性例数16例,皆位于双侧听力下降组,其中纯合突变8例,复合杂合突变5例,杂合突变3例。SLC26A4(PDS)基因阳性例数15例,皆位于双侧听力下降组,其中纯合突变者5例(皆位于IVS7-2A>G位点),复合杂合突变者4例,杂合突变者6例。双耳听力下降组的GJB2基因阳性检出率(21.92%)高于单耳听力下降组(0.00%)(P<0.05);SLC26A4基因阳性检出率两组间比较无明显差别(20.55%,0.00%)(P>0.05)。结论遗传因素在非综合征性耳聋的致聋病因中所占比例较高,双侧聋遗传性高于单侧聋,对于双侧耳聋及耳聋基因阳性患儿定期进行听力学随访意义重大,耳聋基因筛查是对常规听力学筛查的有效补充,可为降低出生缺陷的三级预防措施提供理论和实践依据。     

中国人常见非综合征性聋杂合子发病机制的实验研究

目的构建人野生型CX30红色荧光表达载体,将Cx26野生型和突变型分别与CX30共同转染HEK293细胞,为揭示Cx26--235delC的杂合突变患者的发病机制提供实验依据。方法构建pCx30--IREs2-DsRed—Express真核表达载体,将pcx30—IREs2-DsRed—ExPress分别与pCx26--EGFP或pCx26--235deIC--EGFP以1：1的比例用脂质体法转染HEK293细胞,转染48h后在激光共聚焦显微镜下观察结果,计算同时表达红色和绿色的细胞阳性率,卡方检验比较两组阳性率的差异。结果pCx30--IRES2--DsRed--Express与pCx26--EGFP共同转染HEK293细胞后,同时出现红色和绿色荧光的细胞占全部转染阳性细胞的27．32％（91／333）。pCx30—IRES2--DsRed--Express与pCx26--c235deIC--EGFP共同转染HEK293细胞后,同时表达红色与绿色信号的细胞占全部阳性细胞的2．19％（4／183）,明显低于两种野生型质粒共同转染的阳性率,经卡方检验两者差异具有显著性意义（x2=52．89,P〈0．01）。结论Cx26发生C．235deIC突变后,丧失了与野生型Cx30形成异型性缝隙连掇gapjunctions,GJs）的能力,使异型性GJs的总数显著下降,导致耳蜗失去了重要的细胞间联系通道,推测可能与部分c．235delC杂合子耳聋的发生有关。     

Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD).

OBJECTIVE: To study the progression of hearing impairment (HI) and audiological features in patients with the mitochondrial A to G mutation in the tRNA(LEU(RUU)) gene at position 3,243 associated with maternally inherited diabetes and deafness. DESIGN: Retrospective phenotype genotype family study. SETTING: Tertiary referral center. PATIENTS: Six adult family members with the mitochondrial tRNA(LEU(RUU)) gene mutation at location 3,243. Data were obtained on medical history, otological examination, and pure tone and speech audiometry. Peripheral leukocytes were analyzed for the presence of the mutation, and heteroplasmy levels were determined. Selected patients underwent vestibular testing, brainstem-evoked response audiometry and neurological examination. RESULTS: One patient showed relatively normal hearing, whereas in the others, HI had started at 27 to 79 years of age. All the patients showed progression in HI of approximately 1.4 dB/yr on average at 0.25 and 8 kHz. In the frequency range 0.5 to 2 kHz, progression was approximately 2 dB/yr; at 4 kHz, progression was 2.4 dB/yr. Vestibular and brainstem-evoked response audiometry test results were normal. All the patients achieved the maximum speech recognition score, as was expected based on their pure-tone average at 1, 2, and 4 kHz. CONCLUSION: Our six adult patients with the mitochondrial tRNA(LEU(RUU)) gene mutation at location 3,243 showed almost normal to severe HI which was progressive beyond presbyacusis. Data from the literature and our findings suggest a cochlear localization of the HI.     

溶酶体异常与耳聋

溶酶体在真核细胞中广泛存在,其功能异常会导致多种疾病发生。迄今,已明确有数种溶酶体相关疾病累及听觉系统,包括:法布瑞氏症、戈谢病、庞贝氏病、甘露糖苷贮积症、黏多糖贮积症、C1型尼曼匹克病、动作性肌阵挛-肾衰综合征、耳聋-甲发育不全综合征、远端肾小管性酸中毒。其中大部分属于先天性溶酶体病(又称溶酶体贮积症,lysosomal storage diseases,LSDs)。该类疾病临床表现具有明显异质性,病变可累及多个组织部位,中枢神经系统和周围神经系统最易受累。听觉系统症状在过去往往被忽视,近年来开始逐渐受到关注,本文将针对导致耳聋的溶酶体相关疾病进行归纳总结。     

重视中国聋人群体中遗传性耳聋筛查和预防工作

耳聋是困扰人类的常见疾病之一。据世界卫生组织估计．全世界有2．5亿人患中度以上听力损失。据各国统计．每1000个新生儿中就有1～3名聋儿^[1]．其中约60％的新生聋儿可能由遗传因素所致^[2]。另外许多迟发性听力下降也与基因缺陷有关．或因基因缺陷和多态性造成患者对致聋因素易感而致病^[3]。