常染色体显性遗传耳聋家系听力学及遗传学特征分析

目的分析一个常染色体显性遗传性耳聋家系的听力学及遗传学特征,制定致聋基因鉴定策略。方法对该常染色体显性遗传性耳聋家系进行问卷调查,听力学检测,绘制该耳聋家系的遗传图谱,分析其听力学及遗传学特征。结果该家系共5代,进行听力学检测者为33人,听力下降者19人.听力学表现为双侧对称的感音神经性耳聋,以高频听力损失为主,听力损失呈进行性加重,但该家系内2个不同分支听力下降时间明显不同,分别为10-30岁和60岁。该家系A组符合常染色体显性遗传感音神经性耳聋特点,B组符合显性遗传老年性聋特点。结论这个家系的两组成员分别表现出2种不同的听力学表型。A组成员为高频听力下降为主的感音神经性耳聋,符合常染色体显性遗传非综合征型耳聋特点;B组成员为高频听力下降为主的老年性聋,符合显性遗传规律,这2组成员可能分别由不同的致病基因导致,需要根据各自的听力学表型及遗传学特征分别制定耳聋基因筛查策略。     

一个中国河北省遗传性低频感音神经性耳聋家系临床表型及遗传学特征分析

目的分析一个常染色体显性遗传性耳聋家系的临床听力学特征及遗传规律。方法对一个国人常染色体显性遗传低频感音神经性耳聋家系的资料进行了收集、整理及临床遗传学特征的分析。对家系成员进行调查并绘制系谱图。对调查的家系成员进行病史、体检、纯音测听、声导抗检查,两名患者进行耳声发射、听性脑干反应、前庭功能及颞骨CT扫描检查以排除听神经病及听觉系统的其他病变。结果该耳聋家系遗传方式为常染色体显性遗传,耳聋患者表现为一种迟发型的、渐进性的、以低频下降为主的听力损失,发病年龄介于10～25岁,早期以低频损失为主,听力曲线呈上升型,随着年龄增长逐渐累及全频听力,听力曲线由上升型变为平坦型。结论该耳聋家系为常染色体显性遗传方式,表现为低频感音神经性耳聋,通过全基因组扫描及连锁分析,有望发现新的低频感音神经性聋的相关基因。     

一个常染色体显性遗传低频感音神经性聋家系听力学及遗传学特征分析

目的分析一个常染色体显性遗传性聋家系的临床听力学特征及遗传规律。方法对一个常染色体显性遗传低频感音神经性聋家系28名成员进行病史采集、体检及纯音测听、声导抗检查并绘制系谱图。其中,5名患者进行耳声发射、听性脑干反应检查,2名患者进行前庭功能及颞骨CT扫描检查以排除听神经病及听觉系统的其他病变。全部成员均应用微卫星标记对DFNA21个位点23个基因进行初步筛查,数据分析采用连锁分析方法。结果该耳聋家系（命名为BJ—L046）遗传方式为常染色体显性遗传,耳聋患者表现为迟发型的、渐进性的、以低频下降为主的听力损失,发病年龄5～28岁,早期以低频损失为主,听力曲线呈上升型,随着年龄增长逐渐累及全频听力,听力曲线由上升型变为平坦型。全部家系成员FNA21个位点23个基因筛查均为阴性。结论该耳聋家系为常染色体显性遗传方式,表现为低频感音神经性聋,数据连锁分析无阳性发现,初步排除了21个DFNA位点23个已知基因。     

一噪声相关常染色体显性遗传耳聋家系遗传性分析

目的分析一个与噪声接触相关的常染色体显性遗传性耳聋家系的听力学及遗传学特征,制定致聋基因鉴定策略。方法对该常染色体显性遗传性耳聋家系进行问卷调查,听力学检测及全身体查,绘制该耳聋家系的遗传图谱,分析其听力学及遗传学特点。应用Sanger测序技术进行候选基因鉴定。结果该家系共5代,进行听力学检测者为13人,听力下降者6人,其中3人有明显的噪声接触史。听力学表现为双侧迟发性感音神经性耳聋,先以高频听力损失为主,随后逐渐加重累及全频听力下降,听力开始下降年龄在16-37岁之间。起病后3年症状明显加重。应用Sanger测序技术进行候选基因鉴定,未发现致聋突变位点。结论这个家系成员为高频听力下降为主的迟发性感音神经性耳聋,符合常染色体显性遗传非综合征型耳聋特点,且怀疑有噪声易感因素。计划下一步通过对家系的表型分析运用新一代测序技术希望鉴定出该家系的致聋基因。     

常染色体显性遗传非综合征性耳聋家系临床听力学特征分析及致病基因定位研究

目的 分析一个连续六代遗传的耳聋家系临床听力学特征及遗传特征,应用连锁分析的方法定位致聋基因.方法 通过家系调查,对一个高频感音神经性聋家系的资料进行了收集、整理及临床听力学和遗传学特征的分析.对家系成员进行调查并绘制系谱图.对调查的家系成员进行病史采集、体检、纯音测听和声导抗检查.结果 该耳聋家系遗传方式为常染色体显性遗传,耳聋患者表现为语后、迟发、渐进、以高频下降为主的听力损失,早期以高频听力损失为主,随着年龄增长逐渐累及全频听力,听力曲线由下降型变为平坦型.结论 该耳聋家系为常染色体显性遗传方式,表现为高频感音神经性耳聋,通过全基因组SNP扫描及连锁分析,初步定位于4号染色体190384723-190669832区域.     

遗传性聋三家系听力学调查

目的分析无综合征的遗传性进行性感音神经性聋三个家系的听力学特点及遗传特征.方法三家系纯音测听33人,耳聋14例,声导抗、ABR测试4人.对这些家系进行相关资料的调查和听力学检查.结果三个家系语前聋1个家系,语后聋2个家系,表现为双侧对称性进行性听力下降,A家系耳聋始于12岁后,B家系耳聋始于20岁后,首先是高频区受损,迅速依次向中、低频扩展,C家系出生后即耳聋,表现为聋哑症.4例8耳声导抗及ABR测试均证实为耳蜗性感音性听力损失,三个家系男女均有发病,显示了很高的外显率,全身检查未发现其它部位畸形.结论三个家系可能为无综合征的常染色体显性遗传性感音神经性聋.     

一个常染色体显性遗传非综合征型聋家系的听力学及遗传学特征分析

目的 分析一个常染色体显性遗传非综合征型聋家系的听力学和遗传学特征.方法 对收集到的一个常染色体显性遗传非综合征型聋家系成员进行家系调查、听力学检测和全身体格检查,绘制家系图谱,整理、分析家系成员的听力学和遗传学特征;提取外周血DNA,对已知常见耳聋基因GJB2、GJB3、COCH、EYA4以及线粒体DNA全序列进行筛查.结果 该家系由5代53名成员组成,现存4代42人,耳聋患者11人;耳聋表型连续遗传,男女均可患病,符合常染色体显性遗传规律,均表现为对称性语后感音神经性聋(12～36岁之间发病),起初为高频听力下降,随着年龄的增长,逐渐累及中低频听力.已知常见致聋基因全编码序列突变检测分析无阳性发现.结论 该常染色体显性遗传非综合征型聋家系中耳聋者表现为对称性、迟发性、进行性、高频下降为主的语后感音神经性聋.     

特大常染色体显性遗传聋家系听力学特征及候选致病基因突变筛查

目的探讨一中国常染色体显性遗传聋大家系的听力学特征,进行已知致聋基因已知突变位点的筛查。方法经知情同意,对家系成员进行全身检查及听力学检测,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抽提试剂盒提取外周血DNA。对2例家系患者DNA进行GJB2和GJB3基因全部编码区突变检测,对其余23个已知常染色体显性遗传性耳聋(DFNA)基因的74个已知突变位点所涉及的50个外显子进行PCR扩增和直接测序分析。结果该家系共7代199人,现存4代176人,耳聋患者54人。系谱分析显示,耳聋表型代代相传,男女患病人数分别为24和30,符合常染色体显性遗传特征。听力学表现为:迟发性、进行性、双侧对称性、感音神经性听力损失,首先是高频区受损,并快速向中、低频扩展。GJB2、GJB3基因全部编码区及其余23个DFNA基因已知突变位点的序列分析均无阳性发现。结论该家系是一个非综合征型常染色体显性遗传聋大家系,耳聋表型为迟发性、进行性、双耳对称性感音神经性听力损失;初步分子遗传学分析提示可能由新基因或已知基因的新突变致病。     

Baraitser-Winter综合征患者感音神经性聋发生机制的研究进展

Baraitser-Winter综合征（Baraitser-Winter syndrome,BWS）是一种罕见的常染色体显性遗传发育障碍疾病,可伴有进行性感音神经性聋。有研究显示1%的人类基因表达与听觉功能有关。目前为止,已发现超过1000个基因突变可导致遗传性听力损失。伴有感音神经性聋的BWS主要是由胞质表达的肌动蛋白基因ACTB或ACTG1发生错义突变而引起。本文就BWS患者中感音神经性聋相关基因突变位点的研究进展进行探讨,以期为遗传性耳聋患者的病因诊断提供一定价值与帮助。     

一个常染色体显性遗传非综合征型聋家系分析

目的分析一个连续5代遗传的常染色体显性遗传性聋家系的临床听力学及遗传学特征。方法对一个常染色体显性遗传高频感音神经性聋家系成员进行全面体检及临床听力学检查,整理、分析家系资料,确定遗传规律,绘制遗传图谱并进行听力学特征分析。应用Sanger测序技术对该家系成员进行候选基因鉴定。结果该耳聋家系遗传方式为常染色体显性遗传,发病年龄各代间较稳定,在30-45岁之间。听力学表型为代代相传、迟发性、渐进性的中度至重度听力损失,患者早期以高频听力下降为主,随着年龄增长逐渐累及全频听力。应用Sanger测序技术进行候选基因鉴定,未发现致聋突变位点。结论该家系遗传学特征符合常染色体显性遗传方式,听力学具有早期高频听力下降并逐渐累及全频的特征,在候选基因中进行测序未发现致聋突变位点。因此希望通过对家系进一步的表型分析或者运用新一代测序技术,可以找到该家系的致聋基因。     

Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants

OBJECTIVE: To evaluate speech perception skills in children with auditory neuropathy (AN)/auditory dyssynchrony (AD)-type hearing loss managed with either hearing aids or cochlear implants. STUDY DESIGN: Prospective data collection in 3 subject groups: AN/AD children fitted with bilateral amplification, AN/AD children fitted with cochlear implant (in 1 or both ears), and a matched control group of implanted children with sensorineural hearing loss. MAIN OUTCOME MEASURE: Open-set monosyllabic words (consonant-nucleus-consonant). RESULTS: Of the 10 implanted AN/AD children, 9 demonstrated significant speech discrimination (consonant-nucleus-consonant phoneme score > or =55%). Similar results were obtained for the aided AN/AD group. Findings for both AN/AD subject groups were poorer than those of the implanted sensorineural cohort. CONCLUSION: Cochlear implantation can offer useful hearing in subjects with AN/AD-type hearing loss. However, expectations for this group may need to be lower than for patients with peripheral (cochlear) loss.     

Receptive language and speech production in children with auditory neuropathy/dyssynchrony type hearing loss

OBJECTIVE: The purpose of this study was to characterize the receptive language and speech production abilities of school-aged children with auditory neuropathy/dyssynchrony (AN/AD) and to compare those abilities to children with sensorineural (SN) hearing loss of similar age and degree of hearing loss. DESIGN: Standardized speech and language tests were carried out on 12 AN/AD children, aged between 57 and 167 mo. Each of these subjects was a full-time hearing aid user or had been just before testing. Receptive language skills were assessed using the Peabody Picture Vocabulary Test (PPVT) and speech production ability was measured using the Diagnostic Evaluation of Articulation and Phonology (DEAP) and a Speech Intelligibility Rating Scale. Data from a matched cohort of children with sensorineural hearing loss were also obtained. RESULTS: Receptive vocabulary and speech production were delayed (to varying degrees) in each of the AN/AD subjects (relative to normally hearing children). The group PPVT Language Quotient score was 0.65 +/- 0.19 and the average number of pronunciation errors was 11 +/- 8.4% higher than expected for age. Results for the AN/AD group were however similar to those obtained for a matched group of children with sensorineural hearing loss on both language and speech production measures. CONCLUSIONS: The findings of this study indicate that while AN/AD type hearing loss can pose a significant developmental risk, at least some children fit with conventional amplification can develop reasonable speech and language abilities.     

Sudden sensorineural hearing loss associated with inner ear anomaly.

OBJECTIVE: This study was conducted to evaluate the frequency of inner ear anomaly in patients with sudden sensorineural hearing loss and in control subjects. STUDY DESIGN: Retrospective case review. SETTING: A tertiary referral center. PATIENTS AND INTERVENTION: We evaluated 366 patients (165 men and 201 women; age range, 3-91 yr) with sudden sensorineural hearing loss and 228 control subjects without sensorineural hearing loss using magnetic resonance imaging. Three hundred fifty-six patients had unilateral and 10 patients had bilateral sudden sensorineural hearing loss. RESULTS: Eleven (2.9%) of 376 ears with sudden sensorineural hearing loss had inner ear anomaly. Nine patients (2.5%) had inner ear anomaly associated with sudden sensorineural hearing loss, but none of the 228 control subjects had the anomaly. The current study demonstrated that the frequency of inner ear anomaly in patients with sudden sensorineural hearing loss was significantly higher than in control subjects. CONCLUSION: Our study reveals that inner ear anomaly may be associated with sudden sensorineural hearing loss in 2.5% of patients.     

Basilar artery tortuosity as a predictive factor for the efficacy of heparin adjuvant therapy in unilateral idiopathic sudden sensorineural hearing loss

IntroductionCochlear ischemia is hypothesized as one of the major etiologies of idiopathic sudden sensorineural hearing loss. Therefore, anticoagulant therapies are designed to be beneficial in certain patients with this condition.ObjectiveThis study aimed to determine which patients with idiopathic sudden sensorineural hearing loss would benefit from heparin treatment as adjuvant therapy.MethodsIn total, 134 patients who underwent magnetic resonance imaging for unilateral idiopathic sudden sensorineural hearing loss at a tertiary referral hospital between January 2014 and December 2018 were included in this retrospective study. All patients received Intratympanic steroid injections or heparin therapy plus oral corticosteroids. Radiological parameters of the vertebrobasilar system and clinical data from pre- and post-treatment assessments were analyzed.ResultsMost patients (71.6%) had a tortuous basilar artery The 65 patients with severe-to-profound idiopathic sudden sensorineural hearing loss showed a significant relationship between idiopathic sudden sensorineural hearing loss laterality and basilar artery displacement to the opposite side (p = 0.036), while the 69 patients with mild-to-moderate idiopathic sudden sensorineural hearing loss did not (p = 0.950). Additionally, the degree of basilar artery tortuosity was significantly associated with the degree of hearing impairment in the severe-to-profound idiopathic sudden sensorineural hearing loss group (p = 0.015). When idiopathic sudden sensorineural hearing loss occurred on the opposite side to basilar artery displacement, the improvement of hearing was significantly greater in patients treated with heparin than in those treated with intratympanic steroids (p = 0.041).ConclusionIn a subset of patients with severe-to-profound idiopathic sudden sensorineural hearing loss, basilar artery tortuosity had a significant directional relationship with idiopathic sudden sensorineural hearing loss laterality. In these selected patients, a significant effect of heparin therapy on improving hearing was observed.     

Clinical characterization of patients with idiopathic sudden sensorineural hearing loss

BACKGROUND: The etiology and factors influencing the prognosis of idiopathic sensorineural hearing loss are still in focus. To determine pathogenetic relevant factors, a detailed clinical characterization of patients with idiopathic sudden sensorineural hearing loss remains to be performed. METHODS: The history of 103 patients who presented with a sudden sensorineural hearing loss and received a standard treatment with prednisolone und pentoxyphylline (Stennert-Schema) has been investigated with a new questionnaire. In addition, audiological and serological investigations were analysed. RESULTS: A partial or total recovery of hearing after therapy was reported by 57 % of patients, on average 15 dB. Half of the patients sustained at least one recurrent idiopathic sensorineural hearing loss. In single cases, fibromuscular dysplasia and hypothyroidism in autoimmunthyroidism were detected. Additionally, smoking was identified as a disease modulating factor. The age of admission to the hospital was significantly reduced in the group of smokers compared to non-smokers (p = 0.02). Non-smokers reported more episodes of sensorineural hearing loss compared to smokers (p = 0.02) according to their higher age. One third of the patients reported a high level of noise exposure in private and business, which was related with the sudden sensorineural hearing loss. CONCLUSION: By collecting an exact medical history, in more than 50 % of cases etiological and predisposing factors of sudden sensorineural hearing loss can be detected which lead to further diagnostic investigations and therapies.     

Detection of syphilitic hearing loss.

Syphilis can cause sensorineural hearing loss that is potentially treatable. To determine the incidence of positive serological findings in patients with sensorineural hearing loss, the rapid plasma reagin card test (RPRCT) and the FTA-ABS test were performed in a study group composed of patients with sensorineural hearing loss of obscure origin. Of the 306 patients with sensorineural hearing loss, 20 (6.5%) demonstrated a positive FTA-ABS as compared with two of 100 (2%) of the control group. Considerable variation was found in the rate of the false-negative and the biological false-positive RPRCT as performed by our hospital and state laboratories when compared with the results of the FTA-ABS test. Syphilis should be considered in any patient with sensorineural hearing loss of obscure origin, despite a negative history for syphilis. The FTA-ABS is the preferred test to exclude hearing loss of syphilitic origin.     

Ototoxicity of ear drops in patients suffering from chronic otitis media

The sensorineural hearing loss in 150 patients with chronic otitis media who were treated in the Haifa Medical Center (Rothschild) during a ten year period was studied. There were 124 patients treated with a mixture containing neomycin, polymyxin B and dexamethasone and a control group of 26 patients with dexamethasone only. All patients were followed up for a period of 1-2 years. Patients with hearing loss due to factors such as previous ear surgery, family history, exposure to noise etc., have been excluded. The conclusions reached were that there is a relationship between the period of disease and the sensorineural hearing loss and that the local treatment with a mixture containing neomycin + polymyxin B appears to contribute to the worsening of the sensorineural hearing loss in patients with chronic otitis media. Our numbers are small and further studies must be done, but the fact that currently used ear drops may produce a sensorineural hearing loss should not be ignored.     

鼻咽癌放疗后突发感音神经性聋14例临床分析

目的 探讨鼻咽癌放射治疗后突发感音神经性聋患者的临床特点及疗效,以利临床诊治。方法 回顾性分析14例（15耳）鼻咽癌放疗后突发感音神经性聋患者的临床特点及疗效。结果 鼻咽癌放射治疗后突发感音神经性聋的患者中男10例、女4例,左耳10耳、右耳5耳,平均发生时间为放疗后6.6年,突聋前多存在听力损失。250、500、1000、2000、4000 Hz的平均听阈（听力级）：突聋耳为(78.5±24.7) dB,非突聋耳为(57.0±32.4) dB。突聋耳73.33％ (11/15)为感音神经性聋,26.67％为混合性聋(4/15)。12例合并放疗后并发症,至少1例存在后循环障碍。治疗总有效率为26.67％ (4/15),其中4例复发且再治疗无效。结论 鼻咽癌放疗后患者发生突发感音神经性聋的程度较重,疗效较差,易复发。其发病机制可能与放疗所致后循环障碍有关。     

Sensorineural hearing loss and Kawasaki disease: a prospective study

PURPOSE: Kawasaki disease (KD) is an acute, self-limited vasculitis of infants and children that is now the most common cause of acquired heart disease in the pediatric age group in the United States and Japan. Reports have documented the association of acute KD with sensorineural hearing loss. To assess the prevalence of hearing loss following acute KD in a geographically and ethnically diverse population, a prospective, multicenter study of hearing loss in patients with KD was conducted. MATERIALS AND METHODS: Patients with acute KD were enrolled in 7 clinical centers and underwent a primary audiologic evaluation within 30 days of the onset of fever. Patients were subsequently reevaluated after resolution of the acute phase of the disease. A questionnaire assessing risk factors for hearing loss was also administered. RESULTS: A total of 62 patients were evaluated during the 29-month study period. At the first audiologic evaluation, 19 patients (30.6%) had sensorineural hearing loss, 6 patients (9.7%) had conductive hearing loss, 17 patients (27.4%) had normal hearing, and 20 patients (32.3%) had inconclusive studies. Overall, 2 of 36 patients (5.5%) had sensorineural hearing loss documented on their second audiologic evaluation. No risk factors for hearing loss were identified by the questionnaire. CONCLUSIONS: Transient sensorineural hearing loss (20 to 35 dB) is a frequent complication of acute KD and may be related to salicylate toxicity in some patients. Persistent sensorineural hearing loss is uncommon. Parents and primary care providers should be made aware of the potential for persistent sensorineural hearing loss following resolution of KD, but routine audiologic screening of this patient population does not appear to be warranted.