粘连性中耳炎的颞骨组织病理学

为了解粘生中耳炎的组织病理学变化，通过颞骨火棉胶切片，对３３８例颞骨切片中有粘连性中耳炎病理特征的２０例作了全面观察。结果显示，粘连性中耳炎病变范围非常广泛，涉及中耳的各部分结构，包括鼓室肌，圆窗及卵圆窗；其病理变化多种多样，包括炎症发生，发展和修复过程的各个阶段。     

胆脂瘤型中耳炎形成的局部炎性浸润和刺激的病理机理研究

目的研究胆脂瘤型中耳炎形成的病理机理。方法对12例(12耳)人鼓膜内陷囊袋颞骨连续切片进行光镜组织病理学观察，重点对内陷囊袋的部位及其内侧面局部中耳腔炎性病变情况进行观察；对11例(11耳)人胆脂瘤型中耳炎进行颞骨连续切片组织病理学观察；对33耳胆脂瘤型中耳炎进行术中观察。结果12耳鼓膜内陷囊袋发生于鼓膜松弛部或(和)紧张部后上象限，囊袋内观察到不同程度的鳞状上皮增生、角化、脱落，其内侧面局部中耳腔有黏膜下炎性细胞浸润、炎性渗出液、粘连和肉芽组织等炎性病变，而其未内陷部分的鼓膜内侧面未见炎性病变。11例胆脂瘤型中耳炎的颞骨连续切片组织病理学和33例胆脂瘤型中耳炎术中观察都显示胆脂瘤全部侵占听骨链区，侵入前半中耳腔者分别为3耳和5耳，对听骨有不同程度的吸收破坏。结论中耳炎时，中耳听骨链区域局部炎性病变向内粘连鼓膜后上象限或松弛部形成内陷囊袋，并长期炎性浸润和刺激，囊袋内鳞状上皮过度增生、角化、脱落、堆积而导致胆脂瘤型中耳炎。     

中耳炎区域性病理差异现象的研究及临床意义

目的　研究中耳炎病理过程中 ,中耳腔系统各不同区域病变特点、严重程度的差异及其原因和临床意义。方法　以 2 90耳各型伴炎性渗出液的中耳炎颞骨连续切片作为研究材料 ,将中耳腔系统分为咽鼓管区、前半 后下中鼓室区、听骨链区 (包括后上中鼓室、上鼓室区 )、鼓窦 乳突区分区进行组织病理学比较观察研究。结合 2 5 6耳各型慢性中耳炎薄层CT检查和其中 189耳手术中分区观察结果 ,对各分区病变特点和严重程度差异进行分析。结果　中耳炎时咽鼓管区几乎没有炎性病理变化 ;前半 后下中鼓室区病变轻 ,且多为可逆性病变 ;而听骨链区和鼓窦 乳突区病变明显比前两区严重 ,且多为顽固性或不可逆性病变。结论　这种“中耳炎区域性病理差异现象”是中耳腔系统前、后区域解剖结构、组织的特殊性引起中耳炎时内通风系统病理性阻塞 ,后部区域炎性渗出液易于积存并形成肉芽组织所造成的     

中耳炎病理过程中渗出液的病理转归与肉芽组织的形成

目的：为探讨中耳炎病理过程中潴留渗出液的病理转归和肉芽组织的形成机理。方法：对美国明尼苏达大学颞骨病理实验室３０６耳各型伴渗出液的中耳炎颞骨连续切片进行了光镜组织病理学观察研究。结果：在中耳炎从早期病理阶段向更晚期病理阶段进展的过程中，渗出液的性质和溜留状态处于动态变化当中；肉芽组织由两种方式的粘膜下成纤维细胞增生而成；潴留渗出液的吸收，机化与肉芽组织形成是同时发生在同一区域的同一病理过程中。结论     

中耳炎颞骨咽鼓管峡部粘-软骨膜的组织病理学观察

目的：了解中耳炎性病咽鼓管峡部粘－软骨膜的影响。方法：用光镜对３２耳各型中耳炎颞骨（中耳炎组）与５０耳正常颞骨（正常组）标本连续切片的咽这峡部粘－软骨膜，中耳腔鼓岬粘骨组织病理学比较观察。结果：中耳炎组和正常组颞骨标本咽鼓管峡部均无病理性阻塞；中耳炎组峡部粘－软骨膜厚度测量和病理观察，未见有明显炎症改变，与正常组比较无明显差异；而其中耳腔粘骨膜均明显炎症病变。这种炎症截然不同反应的界限恰好在咽这的     

早期中耳炎炎性渗出液产生和进展的临床研究

目的探讨早期中耳炎炎性渗出液的产生及进展、可能的原因和病理影响。方法对19例（22耳）首次发病就诊的早期中耳炎患者进行颞骨CT薄层水平扫描，观察中耳系统CT征象，根据病史长短分析炎性渗出液产生部位和炎症扩展趋势。结果发病3天内患者的12耳中、上鼓室均为高密度阴影，而乳突气房有不同程度充气；发病5天内患者的10耳整个中耳系统呈现高密度阴影，其中，仅3耳下部乳突气房有少量充气。结论早期中耳炎渗出液最先主要产生于中、上鼓室黏膜，随病程延长，炎症有向鼓窦、乳突气房扩展的趋势。     

粘连性中耳炎临床观察

为了解粘连性中耳炎的手术治疗效果，寻求较好的治疗方法，回顾性分析１９６７年～１９９２年间经手术诊断为粘连性中耳炎患者１１０例，共１２０耳。其中有化脓性中耳炎病史者７５例，分泌性中耳炎病史者３０例，其他原因５例。全部病例均经１～４次手术，粘连分离或病变清除后，鼓室放硅片或同种异体软骨片以预防再粘连。临床观察发现，所有病例的鼓室内均有不同程度纤维组织粘连和膨胀不全，病变范围广泛，累及中耳各部分结构，甚至圆窗和卵圆窗龛；硅片常被纤维结缔组织形成的囊袋所包裹，周围仍有广泛粘连；同种异体软骨片置入耳的病理反应较轻。但全部病例术后听力均未达应用水平，远期疗效更差。可见，采用这些方法治疗粘连性中耳炎仍不理想。     

中耳炎隐蔽性发病的病理因素探讨

为探讨中耳炎的隐蔽性发病的病理因素，用光镜对３０６耳各型中耳炎颞骨连续切片，进行病理学观察研究和临床资料复习。结果示，绝大多数中耳炎病变过程中缺少临床症状。     

193 中耳渗出与鼓膜结构

分泌性中耳炎可引起持久的病理改变，如鼓膜萎缩鼓室硬化，粘连性中耳炎及鼓膜穿孔，这是因为研究不同的中耳渗出性质不一而产生了不同病变，本文旨在研究不同的中耳渗出对鼓膜固有层结构的影响。……     

发生在中耳炎的隐袭性迷路损害

中耳炎可并发隐袭性迷路炎,如Gardenghi(1955)发现50例中耳炎中有22例,Bluvshtein(1963)则发现57.5%的病人有某些耳蜗功能损害。作者(1970)对500例慢性中耳炎中的279例作了研究,也发现病耳的耳蜗损害较正常耳多见,各年龄组的中耳炎病人比同年龄正常对照组的感音神经性听力损害增加(排除老年性聋的因素)。作者研究了75个中耳炎病人的颞骨标本,主要发现在底转鼓阶外淋巴有浆液纤维素沉积和炎性细胞。偶可见底转毛细胞缺失和异常,还有包括顶转的膜迷路积水的表现。圆窗膜的组织改变包括纤维层的血管扩张,圆窗膜增厚,炎性细胞浸润、明显化生、增生或囊性变。已建立实验动物模型为中耳炎时的毒素透过圆窗膜提供了病     

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings

We screened DNA from 72 sibships and 138 sporadically affected individuals with congenital non-syndromal sensorineural hearing impairment (NSSNHI) for mutations in the 26 (CX26) gene. A total of 20 (27.8%) of the sibships and 11 (7.9%) of the sporadically affected individuals were homozygous or compound heterozygotes for CX26 mutations. A total of 11 (17.2%) of 64 individuals with severe and 30 (30%) of 100 with profound NSSNHI compared to eight (8.7%) of 92 persons with moderate and none (0%) of 19 individuals with mild hearing impairment were homozygous or compound heterozygotes for CX26 mutations (chi2 test, 3 df, P = 0.000). CX26 mutation status bad no effect on the symmetry of the hearing impairment or configuration of the audiogram. In addition, serial audiograms showed no evidence of progression of the hearing impairment or differences in the severity of the hearing impairment in affected siblings in persons whether or not due to CX26 mutations. Sporadically affected individuals with congenital NSSNHI should be routinely tested for mutations in CX26, especially if the hearing impairment is severe or profound in severity, since identification of a mutation in CX26 allows use of Mendelian recurrence risks.     

纤溶酶治疗全聋型或接近全聋型突发性聋的疗效观察

目的探讨纤溶酶治疗全聋型或接近全聋型突发性聋的效果。方法将52例患者随机分成两组,对照组主要用长春西汀治疗,治疗组在用长春西汀的基础上加用纤溶酶,均以10天为一疗程。结果治疗组与对照组疗效比较,有效率分别为61.5%和30.8%,显效率分别为38.5%和11.5%,差异有显著性(P<0.05)。结论只要没有用药禁忌症,纤溶酶治疗全聋型或接近全聋型突发性聋是安全的、有效的。     

A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness

Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We report the identification of a novel Cx26 point mutation (439 G-->A) linked to familial, autosomal recessive, sensorineural hearing loss. This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration.     

Connexin 26 studies in patients with sensorineural hearing loss

OBJECTIVE: To determine the spectrum of connexin 26 (Cx26) mutations and their phenotypes in children with sensorineural hearing loss (SNHL) or mixed hearing loss (MHL). DESIGN: Children with SNHL or MHL were prospectively tested for mutations in the entire coding region of the Cx26 gene. PATIENTS: Children with SNHL or MHL with no obvious etiology for the hearing loss. RESULTS: Between December 1, 1998, and July 1, 2000, 107 patients with SNHL or MHL from 99 families underwent Cx26 testing. Most patients were aged 1 week to 16 years (61 boys and 46 girls). Thirty (30%) of 99 probands had Cx26 mutations: biallelic mutations were detected in 18 (9 homozygous and 9 compound heterozygous) and single mutations were detected in 12. Twelve previously reported mutations (35delG, 167delT, E47X, L90P, M34T, G12V, V37I, R143W, V84L, V153I, V27I, and 310del14) and 3 novel mutations (E129K, T8M, and N206S) were found. Hearing loss in patients with biallelic Cx26 mutations ranged from unilateral high frequency to bilateral profound. Four children, 2 with biallelic mutations, had temporal bone abnormalities. CONCLUSIONS: Connexin 26 mutations are common in children with SNHL, and it is likely that the homozygous and compound heterozygous mutations cause the SNHL. However, pathogenicity is less certain when only a single Cx26 mutation is present. Patients with biallelic Cx26 mutations had a slightly higher incidence of milder hearing loss than in previous studies. Children with SNHL or MHL should be tested for Cx26 mutations early in their evaluation.     

Laser-assisted uvulopalatoplasty for the management of obstructive sleep apnea: myths and facts

OBJECTIVE: To assess medium- to long-term subjective and objective results of laser-assisted uvulopalatoplasty (LAUP) for patients with obstructive sleep apnea. DESIGN: A nonrandomized prospective before-after trial. SUBJECTS AND INTERVENTIONS: Twenty-six patients underwent LAUP by means of vertical trenches along either side of the uvula and reduction of the uvula. MAIN OUTCOME MEASURES: Subjective analysis included a preoperative and 2 postoperative evaluations of the state of snoring: 4 weeks and a mean +/- SD of 12.3 +/- 9.1 months after completion of treatment. In addition, a score on 5 other sleep-related symptoms was recorded before treatment and after 12.3 +/- 9.1 months; at that time, patients also estimated their overall satisfaction with the procedure. Objective analysis included preoperative polysomnographic studies that were repeated postoperatively. RESULTS: A significant decline in snoring improvement from 88% (23/26) to 65% (17/26) was recorded; furthermore, the state of snoring worsened from 4% (1/26) to 12% (3/26). Reevaluation of 5 other sleep-related symptoms after completion of LAUP uncovered a 50% improvement rate (13/26), and a 15% (4/26) worsening rate. Overall satisfaction from the procedure was 58% (15/26). Postoperative objective studies revealed that only 31% (8/26) of the procedures were successful, while 31% were associated with worsening of respiratory disturbance index. Fifty-four percent (14/26) of the patients had a sensation of pharyngeal dryness. In addition, 1 patient developed velopharyngeal stenosis. CONCLUSIONS: The favorable subjective short-term results of LAUP deteriorated in time. Postoperative polysomnography revealed that LAUP might lead to deterioration of existing apnea. These findings are probably related to velopharyngeal narrowing and progressive palatal fibrosis inflicted by the laser beam.     

Expression of connexin 26 in the lateral wall of the rat cochlea after acoustic trauma

OBJECTIVE: Although the mutation in the Gap Junction Beta 2-encoding gap junction protein connexin 26 (Cx26) has been related to hereditary non-syndromic deafness and maturation of cochlear development, the physiological role of Cx26 in the cochlear lateral wall remains unclear. It has been suggested to be responsible for the recycling of K+ in the endolymph and for maintenance of the endocochlear potential (EP). In noise-induced hearing loss, alterations in the EP and the K+ concentration in endolymph have been observed. Thus Cx26, which is widely expressed in the cochlear lateral wall, may play a role in the mechanism of acoustic trauma. MATERIAL AND METHODS: We used a rat model of noise-induced hearing impairment to detect changes in Cx26 expression in the cochlear lateral wall. By means of immunofluorescent staining and Western blotting, we investigated whether Cx26 was involved in the pathophysiological mechanism of acoustic trauma. RESULTS: The results indicated that abundant Cx26 protein was found on fibrocytes of the spiral ligament in the cochlear lateral wall. Protein extract of cochlear lateral wall expressed Cx26 with a molecular weight of approximately 21 kDa. After noise exposure, with an increasing threshold of the auditory brainstem response (ABR) of approximately 54.2 +/- 21.8 dB SPL, the expression of Cx26 protein increased significantly (p < 0.05) as revealed by semi-quantitative analysis from Western blotting. CONCLUSION: Cx26 protein was present in the cochlear lateral wall of rats and was upregulated when the ABR threshold shifted after intense noise exposure. Cx26 protein was involved in the pathogenesis of acoustic trauma.     

大前庭水管综合征的基因诊断和SLC26A4基因突变分析

目的应用变性高效液相色谱分析和序列分析方法进行大前庭水管综合征患者的SLC26A4（PDS）基因全序列扫描,分析大前庭水管综合征的SLC26A4基因型变化和遗传特征.方法来自35个家庭的38例患者多患中重度感音性耳聋,所有患者颞骨CT均显示前庭水管明显扩大.以高效液相色谱分析结合序列分析进行SLC26A4基因分析.结果共发现32个先证者携带有SLC26A4基因突变,其中纯合突变11例,复合突变9例,单一杂合突变12例,3个先证者未发现突变,在所有受检患者中突变发现率91.4%（32/35）.共发现8种突变类型58个突变,其中IVS7-2 A＞G突变为中国人最常见的SLC26A4突变,共发现其纯合型10例,杂合突变13例,即有71.9%的患者（23/32）携带此种突变,2168A＞G为第二常见突变,共有8名患者携带此杂合突变,另发现1229C＞T,IVS15＋5G＞A,1226 G＞A,1199-1200insT,946 G＞T,916-917 ins G突变形式,后三种突变为国内外尚未报道的新突变.四种复发性突变IVS7-2 A＞G、2168A＞G、1229C＞T、IVS15＋5G＞A在此组病例的30例患者均有出现.三个多发家庭的同胞患者均具有一样的SLC26A4突变.结论大前庭水管综合征是典型的常染色体隐性遗传疾病,SLC26A4基因突变是其明确的致病因素,SLC26A4基因检测是诊断大前庭水管综合征的重要方法之一.     

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness

Mutations in the Connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment. We report the identification of a novel point mutation in the Cx26 gene, Leu205Pro(L205P), linked to familial, autosomal recessive sensorineural hearing loss. This missense mutation, causing amino acid leucine at position 205 to be substituted by proline, is located in the highly conserved sequence of the fourth transmembrane domain (TM4) of Cx26. Hearing loss with this mutation occurred in a Georgian Jewish family, was congenital, moderate to profound and nonprogressive. We have shown that the new mutation L205P in Cx26 is strongly associated with congenital NSHL. Multiple-sample screening for this mutation can be easily performed with a mismatch PCR that creates a restriction site.     

广东省59例大前庭水管综合征患者SLC26 A4基因突变及表型分析

目的：探讨广东省大前庭水管综合征（enlargement of vestibular aqueduct syndrome,EVAS）患者SLC26 A4基因位点突变及相关听力表型,为研究 EVAS 发病机制提供参考。方法采用基因芯片法对59例EVAS患儿进行 SLC26 A4基因 IVS7－2 A＞G：2168 A＞G 位点检测,并行颞骨 CT 影像学检查。结果59例EVAS患者中21例（35．59％）为SLC26 A4双等位基因（纯合或复合杂合）突变,其中16例为IVS7－2 A＞G纯合突变,2例为2168A＞G纯合突变,3例为IVS7－2A＞G、2168A＞G复合杂合突变,这21例CT均显示为双侧前庭水管扩大或其他内耳畸形;38例为 SLC26 A4单等位基因突变,其中31例为 IVS7－2 A＞G 杂合突变,7例为2168A＞G杂合突变,这38例中4例为前庭水管扩大伴Mondini畸形,2例表型正常,其余均为双侧前庭水管扩大。59例患儿均表现为重度－极重度聋。结论本组EVAS患者中SLC26 A4基因IVS7－2 A＞G位点的突变发生率最高,其次为2168A＞G;均表现为双耳重度或极重度感音神经性听力损失。