Repose舌骨舌根悬吊联合腭咽成形术治疗重度阻塞性睡眠呼吸暂停低通气综合征

目的探讨Repose舌骨舌根悬吊术联合腭咽成形术(UPPP)治疗重度阻塞性睡眠呼吸暂停低通气综合征(OSAHS)的疗效。方法对28例重度OSAHS患者经鼻咽通气管、上气道CT、头颅定位侧位片、电子鼻咽喉镜结合Muller试验确定存在腭咽及舌咽平面阻塞。行R e p o s e系统舌骨和(或)舌根悬吊术+U P P P。结果术后随访6～12个月,复查上气道CT、多道睡眠图(PSG)监测,手术前后呼吸暂停低通气指数(AHI)及最低动脉血氧饱和度(lowest arterial oxygen saturation,LSaO2)的变化均有统计学意义(P均<0.05)。AHI从术前(56.32±15.70)次/h下降至术后(18.67±8.56)次/h,LSaO2从术前(56.37±4.35)%上升至术后(86.03±11.24)%。按杭州会议标准,治愈6例,显效18例,无效4例,总有效率为85.7%。术后除1例发生大出血外,未见其他严重并发症。结论同时存在腭咽及舌咽平面阻塞的重度OSAHS患者,Repose系统舌骨和(或)舌根悬吊术联合UPPP是目前一种有效的外科手术方案。     

同期悬雍垂腭咽成形术联合颏前移舌骨悬吊术治疗重度阻塞性睡眠呼吸暂停低通气综合征

目的:探讨同期悬雍垂腭咽成形术(UPPP)联合颏前移舌骨悬吊术(GAHM)治疗重度阻塞性睡眠呼吸暂停低通气综合征(OSAHS)的疗效。方法:18例重度OSAHS患者,经电子鼻咽喉镜检查结合M櫣ller试验、头影测量分析及上气道CT检查确定存在腭咽及舌咽平面阻塞。均于术前先行经鼻持续正压通气治疗5～7d,然后同期行UPPP联合GAHM手术。采用Wilcoxon符号秩和检验分析手术前后各相关参数的变化。结果:术后随访6～24个月,除体质指数外,手术前后各相关测量值的变化均具有统计学意义(P<0.05)。呼吸紊乱指数从63.83±16.34下降到21.43±20.34,LSaO2从(72.44±7.07)%上升至(81.33±13.32)%。按杭州会议标准,治愈1例,显效11例,有效3例,无效3例,总有效率为83.33%。未发生下前牙根尖损伤及下颌骨骨折等严重并发症。结论:UPPP联合GAHM是目前治疗腭咽及舌咽平面阻塞的重度OSAHS患者的一种有效的手术方案。     

重度OSAHS患者同期行UPPP与GAHM术后嗜睡量表的变化

目的 探讨重度阻塞性睡眠呼吸暂停低通气综合征患者(obstructive slee p apnea hypopne asyndrome,OSAHS)同期行悬雍垂腭咽成形术(uvulopalatopharyngoplasty,UPPP)与颏前移舌骨悬吊术(genioglossusadvancement with hyoid suspension,GAHS)术后嗜睡量表(Epwoth sleepy scale,ESS)的变化特征.方法 18例存在腭舌咽平面阻塞的重度OSAHS患者,同期行UPPP与GAHS手术,术后6个月以后复查嗜睡量表,分析其手术前后相关参数.结果 呼吸暂停低通气指数从(63.83±16.34)次/小时下降到(21.43±20.34)次/小时,微觉醒指数从(55.68±3.73)下降34.08±3.03),P<0.01,Epworth嗜睡评分由术前的(16.11±4.25)下降至术后的(9.56±5.59)(P<0.01).结论 UPPP联合GAHS治疗腭咽及舌咽平面阻塞的重度OSAHS患者,其ESS评分明显降低.     

改良颏舌肌前移术治疗阻塞性睡眠呼吸暂停低通气综合征

阻塞性睡眠呼吸暂停低通气综合征（OSAHS）的外科治疗技术主要包括UPPP、颏舌肌前移、舌骨悬吊、上下颌骨前移术等。多数OSAHS患者存在腭咽、舌咽等多平面阻塞或塌陷。同期行UPPP、颏舌肌前移及舌骨悬吊术,可以解除腭咽、舌咽平面阻塞或塌陷,并可明显提高疗效。     

舌骨悬吊手术的并发症

目的探讨对重度阻塞性呼吸暂停低通气综合征（OSAHS）患者行悬雍垂腭咽成形术（UPPP）联合舌骨悬吊术时引起的并发症。方法对重度OSAHS患者行UPPP联合舌骨悬吊术109例,每例患者术前均行清醒状态纤维喉镜下Muller检查、上气道的X线片或上气道CT测量,术前确定阻塞平面为腭-咽及舌-咽平面,但以舌-咽平面为主,均行UPPP联合舌骨悬吊术,术后均于ICU保留气管插管监护1～2d。结果1例患者术中下颌骨下缘打孔过于偏下,穿线打结后丝线将下颌骨打孔处下缘撕裂;6例患者术后颈部切口出现脂肪液化;3例患者颏部切口反复红肿,考虑缝线局部刺激;2例患者术后出现颈部切口出血。所有患者在开始进食时有咽部、舌部不适,手术2～4d后舌体运动略有受限,一般在5～7d后舌体运动感觉正常。结论舌骨悬吊术的并发症较少,解除重度OSAHS患者的舌-咽平面的狭窄不失为一种简单、安全、有效的方法。     

舌体牵引与舌骨悬吊术治疗阻塞性睡眠呼吸暂停-低通气综合征中的微创外科技术

由于阻塞性睡眠呼吸暂停-低通气综合征(OSAHS)常存在上气道多平面阻塞,单纯悬雍垂腭咽成形术(UPPP)治疗效果不十分理想。近年内,一种新的微创外科技术——针对舌源性上气道阻塞而设计的舌体牵引与舌骨悬吊术,已用于OSAHS的治疗,并取得了满意的疗效,可作为UPPP手术的补充治疗。     

舌骨悬吊联合腭咽成形术前后舌咽平面X线头影测量

目的探讨应用X线测量舌骨悬吊联合腭咽成形术前后舌咽平面后气道间隙的变化,为治疗舌咽平面狭窄提供形态学依据。方法对30例经多导睡眠监测系统（polysomnography,PSG）、Müller′s试验确定的舌咽平面和腭咽平面狭窄的中、重度OSAHS患者,同期行舌骨悬吊术联合腭咽成形术。术后随访,应用PSG及X线头影测量分析治疗效果。结果术后随访1年,呼吸紊乱指数从（63.00±11.23）下降到（19.00±4.52）,参照杭州会议OSAHS疗效评定标准, 治愈12例(40.00%),显效10例(33.33%),有效3例(10.00%),无效5例 (16.67%),总有效率83.33%。X线头影测量分析示舌骨向前上移位,后气道间隙扩大。结论舌骨悬吊术可通过向前上牵拉舌骨,扩大舌咽平面后气道间隙,达到治疗舌咽平面狭窄的部分OSAHS患者。     

舌骨悬吊术治疗重度阻塞性睡眠呼吸暂停低通气综合征34例

重度阻塞性睡眠呼吸暂停低通气综合征 (OSAHS)患者往往存在多平面阻塞,腭 咽及舌 咽 平面是最常见、最主要的阻塞部位〔1〕,单纯行悬雍 垂腭咽成形术(UPPP)效果往往不理想。为此,我 院对34例重度OSAHS患者在全身麻醉下实施 UPPP手术的同时行舌骨悬吊术,疗效满意,现报 告如下。 1　资料与方法 1.1　临床资料 我院2000年9月～2003年3月收治重度 OSAHS患者34例,其中男32例,女2例;年龄32 ～55岁,平均44.2岁。病程6个月～20年。均有 睡眠时严重打鼾及呼吸暂停,诊断均符合杭州会议 标准〔2〕。每例患者术前均行清醒状态纤维喉镜下…     

舌体牵引与舌骨悬吊术治疗阻塞性睡眠呼吸暂停—低通气综合征中的微创外科技术

由于阻塞性睡眠呼吸暂停－低通气综合征（OSAHS）常存在上气道多平面阻塞，单纯悬雍垂腭咽成形术（UPPP）治疗效果十分理想，近年来，一种新的微创外科手术－－针对舌源性上气道阻塞而设计的舌体牵引与舌骨悬吊术，已用于OSAHS的治疗，并取得了满意的疗效。可作为UPPP手术的补充治疗。     

颏舌肌前移舌骨悬吊联合悬雍垂腭咽成形术的初步应用

目的 探讨不使用环钻行颏舌肌前移舌骨悬吊术联合悬雍垂腭咽成形术(UPPP)治疗重度阻寒性睡眠呼吸暂停低通气综合征(OSAHS)的可行性及疗效.方法 2006年6月至2008年1月26例伴舌根肥厚、舌后间隙狭窄的中重度OSAHS患者接受本研究.按呼吸暂停低通气指数(AHI)分为中度(12例)和重度(14例)2组;根据Friedman分型,Ⅱ型18例,Ⅲ型8例.电子鼻咽喉镜检查及Muller试验检杳腭咽及舌咽狭窄.先行UPPP,同时一期采用线锯、胸科电锯、耳科电钻等非环钻技术行颏舌肌前移及舌骨悬吊术.结果 手术时间120～180 min,颏舌肌前移手术出血50～100 ml.术中和术后未出现严重并发症.术后1年随访,14例重度OSAHS患者AHI由术前的(42.9±6.6)次/h(x±s,下同)下降至(16.2±5.7)次/h,其中11例患者AHI下降大于等于50%,有效率71.4%.12例中度OSAHS患者AHI由术前的(21.3±4.4)次/h下降至(11.3±5.2)次/h,其中10例患者AHI下降大于等于50%,有效率83.3%.中、重度OSAHS患者术后AHI较术前均明显下降,而中度的有效率明显优于重度患者,差异均有统计学意义(P值均<0.01).结论 不使用环钻也可行颏舌肌前移舌骨悬吊术,联合UPPP治疗伴舌根肥厚、舌后间隙狭窄的中、重度OSAHS,手术创伤小,操作容易,不需要特殊器械,治疗效果好.     

先天性小耳畸形EYA1和SIX1基因检测分析

目的 了解先天性小耳畸形患者是否存在EYA1和SIX1基因突变.方法 选择先天性小耳畸形患者100例,包括13个家系的先证者和家系其他患病成员共31人及散发患者69人,其中,小耳畸形伴耳前凹34例,小耳畸形伴耳前赘或副耳22例,小耳畸形伴腭裂8例,小耳畸形伴面部不对称21例,单纯小耳畸形15例,通过PCR和直接测序对EYA1和SIX1基因进行突变检测.结果 检测到4种EYA1核苷酸改变,分别为258G>A(Q86Q)、813A>G(T271T),1278C>T(G426G)和1755T>C(H585H).1例散发患者检测到SIX1外显子1非编码区219位C>T;另2例散发患者SIXl外显子1～28位碱基G缺失.结论 本实验未在先天性小耳畸形伴耳前凹、耳前赘患者中发现EYA1和SIX1基因已知热点突变.     

下咽鳞癌Ets-1、磷酸化STAT3的表达及其与侵袭转移的关系

目的检测转录因子Ets-1和磷酸化信号转导和转录活化因子3（P-STAT3）在下咽癌原发灶及其颈淋巴结转移灶的表达,并探讨其与下咽癌侵袭转移的关系。方法应用免疫组织化学SP法检测52例单纯手术患者下咽癌原发灶及相应36例颈淋巴结转移灶中Ets-1、P-STAT3蛋白的表达。结果在52例下咽癌原发灶中,Ets-1、P-STAT3蛋白的表达率分别为61.54%（32/52）和75.00%（39/52）;Ets-1、P-STAT3蛋白在T3～T4级下咽癌原发灶的表达率均显著高于T1～T2级（P<0.05,P<0.01）;在有颈淋巴结转移下咽癌原发灶的表达率均显著高于无淋巴结转移者（均P<0.05）;Ets-1蛋白在有肺转移下咽癌原发灶的表达率显著高于无肺转移者（P<0.05）;在36例有颈淋巴结转移下咽癌中,Ets-1、P-STAT3蛋白在转移灶的表达率分别为52.78%（19/36）和58.33%（21/36）;原发灶P-STAT3蛋白表达率显著高于转移灶(P<0.01)。结论Ets-1和P-STAT3蛋白在下咽癌中均高表达,并与肿瘤T分级、颈淋巴结转移密切相关,Ets-1表达还与肺转移有关。Ets-1和P-STAT3有可能成为临床判断下咽癌侵袭性、转移潜能的有效指标。     

Soluble adhesion molecules in middle ear effusions from patients with chronic otitis media with effusion

Soluble forms of intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) have been identified in the peripheral blood and other body fluids. These soluble adhesion molecules have been reported to reflect the upregulation of cell surface ICAM-1 and VCAM-1 expression in inflammatory diseases. The levels of soluble ICAM-1 and soluble VCAM-1 in 37 middle ear effusions from 37 patients with chronic otitis media with effusion (OME) were quantitatively determined with enzyme-linked immunosorbent assays. The levels of soluble ICAM-1 in mucoid effusions were significantly higher than those in serous effusions, but the levels of soluble VCAM-1 did not differ significantly between the two types of effusion. The levels of soluble VCAM-1 in effusions from atopic patients were significantly higher than those from non-atopic patients, whereas the levels of soluble ICAM-1 in samples from atopic patients were significantly lower than those from non-atopic patients. Therefore, our data suggest that an increase in soluble VCAM-1 plays a more important role in the pathogenesis of OME in atopic patients than in non-atopic patients. In addition, soluble ICAM-1 is likely to play a more important role in the pathogenesis of OME in nonatopic patients than soluble VCAM-1.     

Serum levels of soluble adhesion molecules ICAM-1, VCAM-1 and E-selectin in patients with Wegener''s granulomatosis

Objective: To examine the role of soluble intercellular adhesion molecule 1 (sICAM-1), soluble vascular cell adhesion molecule 1 (sVCAM-1), and soluble E-selectin (sE-selectin) in the pathogenesis of Wegener's granulomatosis (WG) and the values of measuring serum levels of these soluble adhesion molecules for monitoring disease activity during follow-up, a total of 24 serum samples from 16 patients with WG were studied. Methods: The serum concentrations of soluble adhesion molecules (sICAM-1, sVCAM-1 and sE-selectin) and cytokines (tumor necrosis factor alpha (TNF-) and interleukin-6 (IL-6)) of patients with WG were measured by ELISA. Results: The serum levels of sICAM-1 were significantly elevated in active WG and correlated with disease activity. At the time of relapse, a significant increase of sICAM-1 was also observed. The serum levels of TNF- and IL-6 were also significantly elevated in active WG. Conclusion: These findings suggest that sICAM-1 plays an important role in the pathogenesis of WG and may be used as an additional parameter of disease activity.     

SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome

OBJECTIVES:: The objectives of this study were to identify SIX1 gene mutations in a patient with branchio-oto syndrome (BO) and to clarify the relationship between SIX1 mutation and enlargement of the vestibular aqueduct (EVA). METHODS:: A genetic study and retrospective chart review for a patient in whom EYA1 mutation had already been excluded was conducted. We studied a Japanese patient who had autosomal-dominant mixed hearing loss, a unilateral ear pit and unilateral EVA, and who was previously diagnosed as having BO. We searched for SIX1 and SLC26A4 mutations using polymerase chain reaction and direct gene sequencing. RESULTS:: The patient carried a heterozygous A-->G mutation at nucleotide 386 within exon 1 of SIX1 that resulted in substitution of a cysteine for a tyrosine at codon 129 (Y129C) of the gene product. Y129C is a previously identified SIX1 mutation and was not detected in any of our 164 control chromosomes. No SLC26A4 mutations were identified. CONCLUSION:: Y129C mutation in SIX1 may cause EVA as well as BO.     

Investigation of FGF1 and FGFR gene polymorphisms in a group of Iranian patients with nonsyndromic cleft lip with or without cleft palate

Objective

Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common craniofacial malformations determined by the interaction between multiple genes and environmental risk factors. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are considered as excellent candidate genes, which their proteins play important roles in craniofacial and palatal development. The aim of the current study was to assess the possible association between FGF1 rs34010 C>A and FGFR1 rs13317 A>G gene polymorphisms and susceptibility to NS-CL/P in an Iranian population.

Design

This case–control retrospective study was performed on a total of 200 subjects including 100 NS-CL/P patients and 100 healthy unrelated controls. Tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect FGF1 rs34010 C>A and FGFR1 rs13317 A>G SNPs.

Results

Our data demonstrated that the FGF1 rs34010, CA and CA + AA genotypes were associated with a reduced risk of NS-CL/P the in codominant (CA vs. CC: OR = 0.29, 95%CI = 0.16–0.55, P = 0.001) and dominant (CA + AA vs. CC: OR = 0.36, 95%CI = 0.19–0.69, P = 0.001) tested inheritance models, respectively. Additionally, the analysis of FGF1/FGFR1 genotype combinations revealed that rs34010CA/rs13317AA and rs34010CA/rs13317AG combinations were associated with a lower risk of NS-CL/P (OR = 0.357, P = 0.008 for the rs34010CA/rs13317AA; OR = 0.226, P = 0.004 for the rs34010CA/rs13317AG).

Conclusions

Our findings suggest that the FGF1 rs34010 C/A polymorphism was associated with a decreased risk of NS-CL/P, and might act as a protective factor against NS-CL/P predisposition.     

SMARCB1(INI-1)缺失性鼻腔鼻窦癌的诊疗进展

SMARCB1(INI-1)缺失性鼻腔鼻窦癌(SDSC)是一类罕见的鼻腔鼻窦恶性肿瘤,具有高度侵袭性。免疫组化染色检测细胞核中INI-1蛋白表达缺失是诊断SDSC最具价值的方法,由于临床表现的非特异性,大多数患者被确诊为该疾病时已处于晚期,极大程度地降低了患者的生存率及生存质量。手术完整切除肿物、术后辅以放/化疗的综合治疗模式是目前临床工作中的主要治疗手段,但仍有较高的复发率及死亡率。而新辅助治疗以及靶向治疗对于该疾病的有效性仍处于临床试验阶段。因此,早期诊断及探索最佳的治疗策略对患者至关重要。本文就SDSC的诊断及治疗进展进行综述,以助于提高对此类罕见肿瘤类型的临床认知。     

Relationship Between Infiltrating Cells and Adhesion Molecules in the Nasal Mucosa of Patients with Allergic Rhinitis

Antigen-induced changes of cell adhesion molecules and their relationships to infiltrating cells were investigated immunohistochemically in nasal mucosa of perennial allergic rhinitis patients. An increased expression of E-selectin and VCAM-1 was noted on the vascular endothelium of the nasal mucosa 15-25 h after the topical antigen challenge. Although there was no increased expression of ICAM-1, we noted a positive correlation between the expression of E-selectin and ICAM-1. The expression of E-selectin and VCAM-1 as well as ICAM-1 was revealed to be correlated with the number of EG2-positive cells and CD4-positive cells, but not with elastase-positive cells. These findings suggest that all these adhesion molecules play a role in the topical influxes of eosinophils and CD4-positive cells in allergic nasal mucosa.     

Nrf2及其信号通路相关因子在噪声性聋大鼠耳蜗的表达

目的：研究Nrf2／Keapl－ARE信号通路相关因子核因子2（nuclear factor E2 related factor 2,Nrf2）、超氧化物歧化酶1（superoxide dismutas 1,SOD1）、血红素加氧酶1（heme oxygenase－1,HO－1）在噪声致聋大鼠耳蜗的表达变化。方法 SD大鼠30只,随机分为噪声组15只和正常对照组15只。正常对照组不给予噪声暴露,噪声组动物给予连续12小时115 dB SPL的稳态白噪声暴露,分别于噪声暴露后1、3、7天对两组动物进行ABR和DPOAE检测,并于噪声暴露7天后取耳蜗组织运用RT －PCR技术及 Peggy Sue微量蛋白检测技术检测 Nrf2、SOD1、HO －1的表达。结果噪声暴露后1、3、7天,噪声组大鼠ABR反应阈均高于正常对照组（P＜0．05）,噪声组DPOAE幅值较正常组明显下降（P＜0．05）;噪声暴露后7天,噪声组大鼠耳蜗Nrf2、SOD1、HO －1的mRNA表达（1．11±0．05、1．45±0．12、1．15±0．03）上调,高于正常对照组（1．00±0．02、1．10±0．12、0．92±0．08）,差异均有统计学意义（P＜0．05）。Peggy Sue微量检测系统检测结果显示噪声组Nrf2及SOD1、HO －1蛋白含量均高于正常组（P＜0．05）。结论强噪声暴露后,SD大鼠耳蜗Nrf2基因表达和蛋白含量升高,Nrf2／Keapl－ARE信号通路下游抗氧化酶SOD1、HO －1基因表达和蛋白含量也随即上调,此改变可能对噪声引起的耳蜗内氧化应激损伤有一定的保护作用。