目的通过总结诺尔康人工耳蜗在特殊病例中的应用情况,客观评价诺尔康人工耳蜗在特殊类型感音神经性耳聋患者中的有效性及安全性,为相关患者人工耳蜗植入提供参考。方法对大前庭导水管综合征、脑白质营养不良、耳硬化症、慢性化脓性中耳炎、双侧植入、再次植入等特殊病例患者,比较分析接受诺尔康人工耳蜗植入过程与类似病例在其他人工耳蜗植入过程中的异同点,术后定期调试及听觉言语测试评价其安全性及听觉言语康复效果,总结诺尔康人工耳蜗在特殊病例人工耳蜗植入中的特点并进行疗效分析。结果 13例14耳特殊病例患者均成功植入诺尔康人工耳蜗且无并发症。诺尔康人工耳蜗特殊病例组患者术后声场测听平均听阈为25~35 dB HL,均达到日常生活实用听力水平。术后开机3个月声母、韵母、单音节词言语识别率分别为52.33±10.95%、62.32±11.01%及40.11±9.43%,与诺尔康普通病例组及某国外品牌对照组术后言语识别率无统计学差异(P>0.05)。结论诺尔康人工耳蜗在产品安全性及有效性方面和国外产品并无显著差别,可常规应用于特殊病例的人工耳蜗植入手术。
Microphthalmia-associated transcription factor (MITF) controls melanocyte survival and differentiation through directly regulating the expression of the tyrosinase (TYR) and tyrosinase-related proteins 1 and 2 (TYRP1 and TYRP2) genes. MITF mutations have been reported to result in an abnormal melanocyte devel-opment and lead to Waardenburg syndrome type 2 (WS2), characterized by variable degrees of sensorineu-ral hearing loss and patchy regional distribution of hypopigmentation. Recently, MITF was also indicated as a causative gene for a more severe syndrome, the Tietz Syndrome (TS), characterized by generalized hy-popigmentation and complete hearing loss. However, few functional studies have been performed to com-pare the diseases-causing mutations. Here, we analyzed the in vitro activity of two recent identified WS2-as-sociated mutation (p.R217I and p.T192fsX18) and one TS-associated mutation p.N210K. The R217I MITF retained partial activity, normal DNA-binding ability and nuclear distribution, whereas the T192fsX18 MITF failed to activate TYR promoter due to loss of DNA-binding activity, and aberrant subcellular localization. The aberrant subcellular localization of T192fsX18 MITF may be caused by deletion of a putative nuclear localization signal (NLS) at aa 213-218 (ERRRRF). Indeed, MITF with deletion of the NLS fragment failed to translocate into the nucleus and activated the TYR promoter. Tagging this NLS to GFP promoted the green fluorescence protein (GFP) translocated into the nucleus. The surprising finding of our study is that a TS-as-sociated MITF mutation, N210K, showed comparable in vitro activity as WT. Thus, the possible involve-ment of MITF in TS and its underlying mechanisms still need further investigation.
目的：探讨6岁以内孤独症儿童听性脑干反应（ABR）特征，评估孤独症儿童的听功能。方法回顾性分析6岁以内听力正常儿童（98例）及孤独症儿童（22例）的ABR测试结果，根据年龄将所有研究对象分为1～2岁组、2＜～3岁组、3＜～6岁组，对各组儿童的ABR反应阈、各波潜伏期及波间期进行统计学分析。结果1～2岁、2＜～3岁及3＜～6岁组正常听力儿童的ABR反应阈平均值分别为15．64±5．02、14．73±4．85及15．57±5．62 dB nHL ，孤独症儿童的ABR反应阈平均值分别为17．50±5．35、17．81±6．58及17．25±6．97 dB nHL ，各年龄组正常听力儿童与孤独症儿童之间ABR平均反应阈值差异无统计学意义（P＞0．05）。在80 dB nHL 短声刺激下，各年龄段孤独症儿童的 ABR各波潜伏期或波间期平均值与正常听力儿童比较，差异均无统计学意义（ P＞0．05）。但是，22例孤独症儿童中，8例（36．36％，8／22）11耳（25．00％，11／44）出现ABR波潜伏期或波间期延长，其中波I、III、V 潜伏期及 I －III、III －V、I －V 波间期延长出现的几率分别为4．55％（2／44）、6．82％（3／44）、13．64％（6／44）、18．18％（8／44）、6．83％（3／44）及15．91％（7／44）。结论部分孤独症儿童存在不同程度的 ABR异常，且表现形式多样，以I－III波间期延长最常见。
