血小板、蛋白激酶C、脂蛋白(a)检测在老年突发性聋诊断中的价值

目的研究血小板(PLT)、蛋白激酶C(PKC)及脂蛋白a[LP(a)]在老年性突发性聋中的变化及作用.方法老年性突发性耳聋和健康对照组各30例,分别检测脂蛋白(a)[LP(a)],总胆固醇(TC)、甘油三脂(TG)、高密度脂蛋白(HDL-C)、低密度脂蛋白(LDL-C)、载脂蛋白AL(apoAI)、载脂蛋白B(apoB)、血小板(PLT)、膜和浆蛋白激酶C(M-PKC和P-PKC),对检测结果做统计学分析.结果突发性耳聋组LP(a)、apoB、TG均明显升高,HDL-C则明显减低,与对照组比较,差异均有显著性(LP(a)t=2.33,P＜0.05.apoB:t=2.83,P＜0.晒.TG:t=2.81,P＜0.05.HDL-C:t=3.58,P＜0.01),PLT计数明显减低,与对照组比较,差异具有显著性t=2.25,P＜0.05.M-PKC活性增高、P-PKC活性减低,与对照组比较,前者差异具有非常显著性(t=3.26,P＜0.01),后者差异具有显著性(t=2.22,P＜0.05).结论老年性突发性耳聋时LP(a)、apoB及M-PKC增高,而PLT减低,在血栓形成过程中起重要的作用,对突发性耳聋的发病起促进作用.     

清肝通窍汤对突发性聋豚鼠血液流变学影响的研究*

目的观察清肝通窍汤对突发性聋模型豚鼠血液流变学的影响。方法30只豚鼠，以噪声刺激加肾上腺素皮下注射法制备突发性聋模型，然后随机分为模型组、治疗组、阳性对照组，每组10只，并设立空白对照组（10只）。治疗组予以清肝通窍汤治疗，阳性对照组用血府逐瘀口服液治疗，模型组和空白对照组分别以蒸馏水灌胃。观察比较各组豚鼠的血液流变学指标及纤维蛋白原含量变化。结果造模后，模型豚鼠不同切变率下的全血粘度、红细胞压积、血浆粘度及纤维蛋白原含量均明显升高。服用清肝通窍汤组动物各项指标值均降低而接近正常。结论清肝通窍汤能较好改善突发性聋模型豚鼠因血液流变性改变而造成的微循环障碍，为临床治疗突发性聋提供了实验依据。     

The multi-channel cochlear implant and the relief of severe-to-profound deafness

Abstract

This personal reflection outlines the discoveries at the University of Melbourne leading to the multi-channel cochlear implant, and its development industrially by Cochlear Limited. My earlier experimental electrophysiological research demonstrated temporal coding occurred for only low frequencies, i.e. below 200–500 pulses/second. I was able to confirm these findings perceptually in behaviourally conditioned animals. In addition, these studies showed that temporal discrimination occurred across spatial coding channels. These experimental results correlated with the later conscious experience for electrical stimulation in my implant patients. In addition, the mid-to-high frequencies were coded in part by place of stimulation using bipolar and monopolar stimulation to restrict current spread. Furthermore, place of stimulation had the qualities of sharpness and dullness, and was also experienced as vowels. Owing to the limitation in coding speech with a physiological model due to the overlap of electrical current leading to unpredictable variations in loudness, a speech coding strategy that extracted the most important speech features for transmission through an electro-neural ‘bottle-neck’ to the brain was explored. Our inaugural strategy, discovered in 1978, extracted the second formant for place of stimulation, voicing for rate of stimulation, and sound pressure for current level. This was the first coding strategy to provide open-set speech understanding, as shown by standard audiological tests, and it became the first clinically successful interface between the world and human consciousness. This strategy was improved with place coding for the third formant or high-frequency spectrum, and then the spectral maxima. In 1989, I operated on our first patient to receive a bilateral implant, and in 1990, the first with a bimodal processor. The psychophysics and speech perception for these showed that the stimuli from each side could be fused into a single image, and localized according to differences in intensity and time of arrival of the stimuli. There were significant improvements for speech perception in noise. In 1985, I implanted our first children with the multi-channel prosthesis and found that speech understanding and spoken language were greatly improved the younger the child at surgery, and especially when younger than 12 months. Speech understanding was strongly related to the development of place coding. In 1990, the US Food and Drug Administration approved the implant for deaf children, the first by any world health regulatory body making it the first major advance in helping deaf children to communicate.     

Audiometric and Ophthalmological Findings in Rubella Deafness

In an attempt to study the relevance of ophthalmological changes to the diagnosis of cochlear hearing impairment due to fetal rubella infection, a survey of the literature combined with a clinical investigation was carried out. Based on the investigation of 57 patients, 31% had congenital hearing impairment due to fetal rubella infection. Of these patients, 61% had typical rubella retinal changes. In the remaining 69%, ophthalmoscopy revealed no abnormality, except in 1 patient. As the cause of the hearing impairment in this patient was unknown, it was concluded that the mother had suffered from subclinical rubella infection in the first trimester of her pregnancy.

It is concluded that rubella retinitis is found with such a high incidence in rubella children that it can be used as a tool in the diagnosis of cochlear hearing impairment due to fetal rubella infection. Patients with congenital hearing impairment ought to undergo a routine ophthalmoscopy which will detect eventual pigmentary changes.     

Col11a1 and col11a2 mRNA expression in the developing mouse Cochlea: Implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype

Objective Mutations in the fibrillar collagen genes COL11A1 and COL11A2 can cause sensorineural hearing loss associated with Stickler syndrome. There is a correlation of hearing loss severity, onset, progression and affected frequencies with the underlying mutated collagen gene. We sought to determine whether differences in spatial or temporal expression of these genes underlie this correlation, and to identify the cochlear cell populations expressing these genes and the structures likely to be affected by mutations.

Materials and Methods We used in situ hybridization analysis of C57BL/6J mouse temporal bones.

Results Similar, diffuse expression of Col11a1 and Col11a2 mRNA was first observed in the cochlear duct at embryonic Day 15.5, with increasingly focal hybridization being noted at postnatal Days 1 and 5 in the greater epithelial ridge and lateral wall of the cochlea. The greater epithelial ridge appeared to be the main, if not only, source of mRNA encoding Col11a1 and Col11a2 in the tectorial membrane. At postnatal Day 13, Col11a1 and Col11a2 expression became more focal and co-localized in the inner sulcus, Claudius’ cells and cells of Boettcher.

Conclusions We did not observe spatial or temporal differences in mRNA expression that could account for the auditory phenotype–genotype correlation. The expression patterns suggest essential roles for Col11a1 and Col11a2 in the basilar or tectorial membranes.     

高压氧联合地塞米松治疗突发性耳聋的疗效及相关影响因素分析

目的 分析高压氧联合地塞米松治疗突发性耳聋（SD）的疗效及相关影响因素。方法 回顾性分析 2014年 1 月—2016 年 12 月我院 200 例采用高压氧联合地塞米松治疗的 SD 患者的临床资料，根据疗效分为有效组（n=182 例）与无效组（n=18 例），比较 2 组性别、年龄、发病至就诊时间、耳别、听力损失、听力曲线类型、伴眩晕情况、伴耳鸣情况、合并疾病（高血压或糖尿病）、血浆黏度及血清 C 反应蛋白（CRP）等指标，并采用 Logistic 回归筛选影响SD 疗效的危险因素。结果 200 例患者经治疗后，总有效 182 例（91.00%），无效 18 例(9.00%）。有效组年龄>50岁、发病至就诊时间>7 d、听力损失≥60 dB、听力曲线类型为高频型或全聋型、伴眩晕、合并高血压、合并糖尿病、血浆黏度≥2 mPa·s、血清 CRP≥20 μmol/L 的比例明显低于无效组（P＜0.05）。Logistic 回归分析显示，年龄（>50 岁）、发病 至就诊时间（>7 d）、听力损失（≥60 dB）、听力曲线类型为高频型或全聋型、伴眩晕、合并高血压、合并糖尿病、血浆黏度（≥2 mPa·s）、血浆 CRP（≥20 μmol/L）为影响 SD 疗效的危险因素（P＜0.05）。结论 高压氧联合地塞米松是治疗SD 的有效方案，但影响其疗效的因素众多，临床治疗时有必要考虑患者临床与病理特征。     

Outcome prediction for Bonebridge candidates based on audiological indication criteria

ObjectiveTo re-evaluate current indication criteria and to estimate the audiological outcomes of patients with Bonebridge bone conduction implants based on preoperative bone conduction thresholds.MethodsWe assessed the outcome of 28 subjects with either conductive or mixed hearing loss (CMHL) or single-sided deafness (SSD) who were undergoing a Bonebridge implantation. We used linear regression to evaluate the influence of preoperative bone conduction thresholds of the better/poorer ear, indication group, and language (German- and French-speaking patients) on aided sound field thresholds. In addition, aided word recognition scores at 65 dB sound pressure level were fit with a logistic model that included preoperative bone conduction thresholds of the better/poorer ear, indication group, and language as effects.ResultsWe found that both aided sound field thresholds and word recognition were correlated with the preoperative bone conduction thresholds of the better hearing ear. No correlation between audiological outcomes and the preoperative bone conduction thresholds of the poorer ear, language, or indication group was found.ConclusionBone conduction thresholds of the better hearing ear should be used to estimate the outcome of patients undergoing Bonebridge implantation. We suggest the indication criteria for Bonebridge candidates considering maximal bone conduction thresholds of the better ear at 38 dB HL to achieve an aided sound field threshold of at least 30 dB hearing level and an aided word recognition score of at least 75% for monosyllabic words.     

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272 + 1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. The mutation was present at the homozygous state in the three affected siblings, and at the heterozygous state in their unaffected, consanguineous parents. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb.