听力学表型在大前庭水管综合征早期诊断中的意义

目的探讨大前庭水管综合征(LVAS)患者的听力学表型特点以期对LVAS早期诊断作出进一步指导。方法回顾分析63例大前庭水管综合征(LVAS)及8例疑似LVAS患者的病史、听力学及基因学检测结果。结果 LVAS患者中听性脑干反应(ABR)检查者58例,出现特征性的声诱发短潜伏期负反应(ASNR)29例,占总数的50.00%(29/58),负波潜伏期范围在2.56±0.39ms;58例非LVAS的听障患儿作为对照组,其均未发现ASNR;LVAS患者行纯音测听检查者22例(44耳),出现混合性听力下降者10例(20耳),占45.45%(20/44),其中有11耳在低频发现骨气导差,有12耳鼓室压图均为A型,2耳鼓室压图为As型,其中有8耳引出声反射;LVAS患者行SLC26A4基因筛查者26例,纯合突变11例,单杂合突变13例,阴性2例,阳性率92.31%(24/26)。结论大前庭水管综合征具有特征性表现ABR负波和中耳功能正常情况下出现骨气导差,该特征性表现对指导首诊患者进一步明确诊断,预防听力下降有重要意义。     

大前庭水管综合征患者的听力特点分析

目的：对大前庭水管综合征（large vestibular aqueduct syndrome,LVAS）患者的听力学特点进行分析,为其早期诊断和干预提供依据。方法对2010年5月～2013年10月经颞骨 CT 检查确诊为大前庭水管综合征的49例（96耳）患者均进行声导抗、耳声发射、听性脑干反应（ABR）及听性稳态反应（ASSR）检查,其中23例46耳（6岁以上者,均为双侧 LVAS）同时行纯音听阈测试。结果23例（46耳）6岁以上患者中33耳（71．74％,33/46）纯音听阈表现为低中频（2 kHz 以下）存在明显气骨导差而高频下降型的混合性听力损失,13耳（28．26％,13/46）表现为无气骨导差的感音神经性听力损失;49例96耳鼓室导抗图均为 A 型,其中5耳可引出声反射;36例68耳（70．83％,68/96）ABR 测试在3～4 ms 处记录到特征性的负相波（ANSR）;46例96耳 DPOAE 均未通过,ASSR检查多为中、重度听力损失。结论LVAS 患者中耳功能正常,纯音听阈可表现为明显的低频气骨导差而高频下降的混合性听力损失,ABR 检查可引出 ASNR 负相波。     

大前庭水管综合征与内耳其他畸形的听性脑干反应特性分析

目的:通过对大前庭水管综合征(LVAS)与内耳其他畸形的听性脑干反应(ABR)特性进行分析,了解在进行ABR检查过程中出现声诱发短潜伏期负相波(ASNR)对诊断LVAS的特异性.方法:对2008-01-2009-09患感音神经性聋(SNHL)的患儿进行颞骨薄层CT扫描,将其中70例内耳其他畸形患儿的影像学结果进行分析,并将研究对象分组,LVAS组(包括大前庭伴其他内耳畸形)38例(76耳),内耳其他畸形组32例(64耳),在进行行为测听或纯音测听、声导抗、耳声发射听力学检查项目的基础上,均进行ABR检测.结果:ABR检查发现24例(41耳)大前庭水管,在2～3 ms处记录到特征性的负相波,检出率为54%,在这41耳中,轻度听力下降2耳、中度听力下降1耳,重度听力下降5 耳,极重度听力下降33 耳. 内耳其他畸形组未检测到负相波.2组差异有统计学意义(P<0.05).结论:在 LVAS与内耳畸形的ABR特性分析中,LVAS无论是否伴其他内耳畸形,无论听力损失的程度如何,均有可能检测出负相波,认为ASNR是大前庭水管综合征临床听力学特征性表现之一.     

极重度听损大前庭水管综合征婴幼儿患者ABR和ASSR结果分析

目的通过对极重度听力损失的大前庭水管综合征婴幼儿进行听性脑干反应（ABR）和多频稳态反应（ASSR）测试,探讨其ABR检查过程中出现的声诱发短潜伏期负向波（acoustically evoked short latency negative response,ASNR）及其ASSR特点。方法回顾性研究22例（42耳）极重度听力损失的大前庭水管综合征（LVAS）婴幼儿,另选择28例（56耳）极重度听力损失的非LVAS的感音神经性耳聋婴幼儿作为对照组,研究其ABR及ASSR相关性。结果①LVAS婴幼儿组ABR测试中,36耳（85．7％）记录到AsNR,在109．6 dB nHL刺激强度引出的ASNR平均潜伏期在3．04±0．22msT对照组中婴幼儿无一例记录到ASNR。②LVAS婴幼儿组ASSRNI]试在250、500和1000Hz引出率明显高于对照组,两组间差异有统计学意义（P〈0．01）。结论相比于普通的极重度感音神经性耳聋患儿,极重度听损LVAS患儿进行听力学检查时,ABR容易出现ASNR负向波,ASSR测试结果显示较高的中低频的电位反应引出率,此结果可用于临床辅助诊断大前庭水管综合征。     

前庭诱发肌源性电位结合纯音测听在大前庭水管综合征患者的临床应用

目的 通过记录、分析大前庭水管综合征（LVAS）患者的前庭诱发的肌源性电位(VEMP) 和纯音测听（PTA）状况,了解其球囊及前庭下神经功能和纯音听力特征,探讨其在LVAS患者的临床应用及意义。方法 对22例（42耳）LVAS患者行内耳高分辨率CT扫描、纯音测听和VEMP检查,对检查结果结合其临床症状进行总结、分析。结果 双侧短声刺激42患耳中25耳（占59.5%）VEMP表现为高振幅和（或）低阈值;42患耳纯音测听有30耳（占71.4%）表现为低中频（2KHz以下）存在明显气骨导差的混合性聋。VEMP低阈值组,前庭水管内径平均值为（4.30±0.53）mm,纯音听力低中频平均气骨导差值为（36±17）dB HL, 19耳主观听力易受外界原因或发热致颅内压改变而波动;VEMP非低阈值组前庭水管内径平均值为（2.80±0.67）mm,纯音听力低中频平均气骨导差值为（32±15）dB HL,4耳主观听力易受外界原因或发热致颅内压改变而波动。结论 VEMP阈值较低者,其前庭水管平均内径值较大,主观听力也易受外界原因或发热致颅内压增高的改变而波动。而纯音听力损失程度与前庭水管内径平均值无相关性,与VEMP振幅的大小及阈值的高低亦无相关性。     

内耳畸形相关SLC26A4基因的研究

目的:研究内耳畸形相关SLC26A4基因在大前庭水管综合征(LVAS)、Mondini畸形及不伴前庭水管扩大的耳蜗畸形耳聋人群中的突变情况,在分子水平上探讨内耳畸形的发病机制,为基因诊断提供理论基础。方法:收集14例散发LVAS、6例Mondini畸形(伴前庭水管扩大)及7例不伴前庭水管扩大的耳蜗畸形耳聋患者的外周血DNA样本及临床资料,利用PCR扩增目的基因后直接测序的方法对所有患者进行SLC26A4基因全编码序列检测,同时进行GJB2、线粒体12SrRNA 1555/1494位点排除性检测。结果:14例LVAS患者中12例(85.7%)具有SLC26A4双等位基因(纯合或复合杂合)突变,2例(14.3%)有单等位基因突变。6例Mondini畸形患者均具有SLC26A4双等位基因(纯合或复合杂合)突变。7例不伴前庭水管扩大的耳蜗畸形耳聋患者中均未查出SLC26A4基因突变。27例患者均未发现GJB2、线粒体12SrRNA 1555/1494致病突变。结论:LVAS及Mondini畸形与SLC26A4基因突变密切相关,且Mondini畸形比单纯LVAS基因突变率更高,而不伴前庭水管扩大的耳蜗畸形耳聋患者未发现SLC26A4基因突变,尚需对该部分耳聋患者进行深入的分子病因学研究。     

单侧大前庭水管综合征SLC26A4基因的突变分析

目的分析SLC26A4基因突变在中国单侧大前庭水管综合征耳聋患者中的分布,探讨单侧大前庭水管综合征的致病因素。方法回顾性分析行SLC26A4基因全序列分析的17例经颞骨CT和听力学检查确诊为单侧大前庭水管综合征的耳聋患者,基因突变检测分布;447例双侧大前庭水管综合征患者的SLC26A4基因突变分布情况作为对照组。结果单侧大前庭水管综合征患者中SLC26A4基因阳性检出率29.41%(5/17),明显低于双侧大前庭水管综合征患者的检出率95.97%(429/447)(P<0.01)。结论单侧前庭水管扩大的发病可能是与SLC26A4以外的其他因素尚存在联系。     

大前庭水管综合征患者的听力学及前庭诱发肌源性电位检测的特点

目的:探讨大前庭水管综合征(LVAS)患者的听力学、前庭诱发肌源性电位(VEMP)检测的特点及诊断意义。方法:对30例(60耳)LVAS患者行纯音测听、声导抗、ABR、畸变产物耳声发射(DPOAE)、VEMP及冷热实验检测,分析其诊断意义。结果:30例(60耳)LVAS患者均呈进行性、波动性听力下降,16例在听力波动性下降时伴眩晕。纯音测听主要呈感音神经性聋,但47耳(94.0%)在中耳功能正常的情况下于低频250、500Hz分别出现(43±17)dBHL及(33±18)dBHL骨气导差,呈混合性聋。ABR检测18耳(64.3%)于(3.06±0.52)ms引出声诱发短潜伏期负反应。42耳VEMP振幅均值为(147.10±107.55)μV,19耳反应阈为75dBnHL,7耳反应阈为65dBnHL。结论:根据进行性波动性听力减退、感音神经性聋在中耳功能正常的情况下出现低频骨气导差,ABR测试引出声诱发短潜伏期负反应及VEMP呈现高振幅低阈值的特征性提示,有助于临床医生得出LVAS的初步印象,可进一步行影像学检查以确诊。     

SLC26A4基因突变致前庭水管扩大家系分析

目的探讨SLC26A4基因突变与家系前庭水管扩大的相关性。方法回顾性分析一个前庭水管扩大(enlarge vestibular aqueduct,EVA)家系的临床特征和基因检测结果及相关的听力学和影像学检查结果。结果先证者的母亲发生基因突变的位点IVS7-2A>G是较常见的SLC26A4突变,父亲的1160C>T位点突变较为罕见;家系中1例患儿为双侧大前庭水管综合征,另1例患儿为双侧大前庭水管综合征伴内耳Mondini畸形,第三个孩子携带母亲的SLC26A4的突变基因,未表现出临床症状。结论该家系SLC26A4基因突变为杂合突变,符合常染色体隐形遗传机制,导致Mondini畸形的突变位点还需进一步探索。     

大前庭水管综合征研究进展

大前庭水管综合征（large vestibular aqueduct syndrome,LVAS）为SLC26A4基因造成的隐性遗传性听力障碍疾病。影像学可表现为前庭导水管扩大,而临床表现可为波动性听力减退,个别伴耳鸣及眩晕等。近年来,听力学检查统计多显示混合性聋。虽有许多已知研究报道,但LVAS的发病基础、生理改变等仍无确切定论,而至今仍未有一确切治疗手段可治愈甚至预防该病。本文就LVAS的解剖基础、病因、发病基础、诊断、检查及治疗进行综述。     

The expression of vascular endothelial growth factor (VEGF) and VEGF‐C in early laryngeal cancer: relationship with radioresistance

The expression of vascular endothelial growth factor (VEGF) and VEGF‐C in early laryngeal cancer: relationship with radioresistance Angiogenesis is essential for tumour growth and invasion. Vascular endothelial growth factor (VEGF) is a prime mediator of tumour angiogenesis. VEGF‐C is a closely related protein that effects lymphatic endothelial cells and may be important in the process of lymphatic metastasis. The purpose of this study was to evaluate the expression of these cytokines in patients with T1 and T2a glottic, squamous cell carcinoma, in comparison with normal epithelial control tissue, to ascertain any association with radioresistance. Twenty‐two tumours treated by radiotherapy (13 radiosensitive, nine radioresistant) and seven normal control tissues were studied. The minimum follow‐up was 2 years after radiotherapy. Expression of VEGF and VEGF‐C was evaluated by immunohistochemistry of formalin‐fixed, paraffin‐embedded biopsy specimens. Analysis was carried out using a quantitative computer image analyser. Both VEGF and VEGF‐C were detectable in tumour and normal control specimens. There was increased expression in tumour specimens of both VEGF (P = 0.03) and VEGF‐C (P < 0.001). In addition, the expression of VEGF‐C was associated with tumours of higher histological grade (P = 0.021). There was, however, no difference in VEGF and VEGF‐C expression between radioresistant and radiosensitive tumours. The expression of VEGF and VEGF‐C is increased in early laryngeal squamous cell carcinoma (SCC). However, measuring the expression of these proteins cannot predict radioresistance in this tumour group.     

Treatment of Maxillary Sinus Carcinoma: Clinical Results Using the Kitasato Modality

The conventional therapeutic regimen for maxillary sinus carcinoma consists of dissection of the maxilla, full-dose irradiation and extensive chemotherapy. However, the results obtained with this treatment are often poor. Even when patients recover, their quality of life is significantly reduced as a result of deformity of facial structures and swallowing and articulation dysfunctions. A retrospective analysis of 68 patients with maxillary sinus carcinoma treated with the Kitasato modality between 1975 and 1999 was conducted. All patients underwent pergingival maxillary sinus surgery combined with pre- and postoperative irradiation therapy with standardized total doses of 16 Gy; the postoperative irradiation was given in combination with regional intra-arterial infusion chemotherapy administered via the superficial temporal artery. All visible tumor lesions were removed where possible in order to preserve or facilitate cellular immunity after surgery. The cumulative 5-year survival rates were 85.7% for Stage II patients, 88.1% for Stage III, 76.6% for Stage IVA and 75.0% for Stage IVB.     

Tongue Base Reduction with Temperature-controlled Radiofrequency Volumetric Tissue Reduction for Treatment of Obstructive Sleep Apnea Syndrome

In recent years a considerable effort has been made to establish the use of different surgical techniques for the treatment of obstructive sleep apnea syndrome (OSAS). Nevertheless, treatment of hypopharyngeal obstruction due to tongue base hypertrophy remains in many ways an unsolved problem. The aim of this study was to evaluate the safety and efficacy of tongue base reduction with temperature-controlled radiofrequency volumetric tissue reduction in the treatment of OSAS. Twenty patients with OSAS and tongue base hypertrophy were treated with radiofrequency tissue ablation. An intensified treatment protocol was used, delivering 2,800 J per treatment session under local anesthesia. Two nights of polysomnography testing were performed before and after treatment. Daytime sleepiness, snoring and postoperative morbidity were assessed using questionnaires. Mean respiratory disturbance index (RDI) was reduced from 32.1 to 24.9/h after a mean of 3.4 treatment sessions. Six patients (33%) were cured after the procedure (reduction in RDI of &#83 50% and a postoperative RDI of <15/h) and ten (55%) showed an improvement of >20% in their RDI. Daytime sleepiness and snoring improved significantly. Peri- and postoperative morbidity was low; one severe complication occurred (tongue base abscess). We were able to achieve similar cure and responder rates to those reported in a recently published pilot study but with a reduced number of treatment sessions. We believe that this technique may improve patient acceptance and have beneficial cost implications.     

Cervical Reflex Induced by Click Stimuli in Cats

We studied click-evoked potentials in the anterior horn of the spinal cord in 17 cats. A concentric needle electrode was inserted into the anterior horn of the spinal cord at levels C3-C6. Potentials evoked with 105 dB SPL clicks were recorded with a peak latency of 4.89-5.10 ms only at the C3 level. These responses were observed 45-60 dB SPL above the auditory brainstem response (ABR) threshold, and no potentials were evoked by stimulation of the contralateral ear. Average was performed 100 times with changes in stimulation frequency of 1-20 Hz. The amplitude of the potentials decreased with increasing stimulus frequency, but there were no changes in ABRs. The responses disappeared after destruction of the medial vestibulospinal tract at the obex level, but ABRs were still recorded. The spinal nucleus of the accessory nerves was located in the anterior horn of the spinal cord at levels C1-C6, and the sternocleidomastoid muscle motoneurons were found at levels C1-C3. The click-evoked potentials recorded in this study reflect responses of the spinal nucleus of accessory nerves through the vestibulospinal tract to click stimulation. The responses have the same characteristics as vestibular-evoked myogenic potentials that can be recorded using surface electrodes over the sternocleidomastoid muscles of humans.     

Lack of significant estrogen and progesterone receptor expression in nasal telangiectasias in hereditary hemorrhagic telangiectasia: an immunohistochemical analysis

Obstructive sleep apnea syndrome (OSAS) is characterized by snoring and apnea during sleep leading to decreased oxygen saturation and disturbed sleep, excessive daytime sleepiness and neuropsychological disturbances. This study investigates cognitive neuropsychological abilities in a group of 53 OSAS patients before and after treatment with uvulopalatopharyngoplasty. General intellectual ability, verbal learning and memory as well as executive functioning were measured at baseline and 6 months postoperatively. After surgery there were significant improvements in verbal learning and memory (mean change - 39, SD 57.3, p <0.001), recall (mean change - 24.3, SD 39.3, p <0.001) and executive functioning (as assessed by percentage of errors on the Wisconsin Card Sorting Test; mean change-9.1, SD 15.7, p <0.001). These improvements were in accordance with improvements in the degree of sleep apnea, the oxygen desaturation index (mean change -9.7, SD 15.9, p <0.001) and arterial minimum oxygen saturation (mean change 4.5%, SD 10.2%, p <0.01). Surgical treatment seems to improve verbal learning, memory and recall and executive functions in parallel with better oxygenation in OSAS.     

Measurement of chemosensory function

Although hundreds of thousands of patients seek medical help annually for disorders of taste and smell, relatively few medical practitioners quantitatively test their patients' chemosensory function, taking their complaints at face value. This is clearly not the approach paid to patients complaining of visual, hearing, or balance problems. Accurate chemosensory testing is essential to establish the nature, degree, and veracity of a patient's complaint, as well as to aid in counseling and in monitoring the effectiveness of treatment strategies and decisions. In many cases, patients perseverate on chemosensory loss that objective assessment demonstrates has resolved. In other cases, patients are malingering. Olfactory testing is critical for not only establishing the validity and degree of the chemosensory dysfunction, but for helping patients place their dysfunction into perspective relative to the function of their peer group. It is well established, for example, that olfactory dysfunction is the rule, rather than the exception, in members of the older population. Moreover, it is now apparent that such dysfunction can be an early sign of neurodegenerative diseases such as Alzheimer's and Parkinson's. Importantly, older anosmics are three times more likely to die over the course of an ensuring five-year period than their normosmic peers, a situation that may be averted in some cases by appropriate nutritional and safety counseling. This review provides the clinician, as well as the academic and industrial researcher, with an overview of the available means for accurately assessing smell and taste function, including up-to-date information and normative data for advances in this field.