支纤镜肺活检联合刷检与经皮肺穿刺活检对肺周围型病变诊断价值的研究

目的:探讨两种肺检查方法对肺部周围常见疾病的诊断价值.方法:回顾性分析胸片和CT检查发现肺周围型病变的43例患者,在经支气管肺活检联合刷检和/或CT引导经皮肺穿刺活检病理确诊阳性率.结果:43例患者共行33次支气管肺活检联合刷检,26例获取标本成功,阳性诊断率为78.79%.经皮肺穿刺活检17例,全部获取标本成功,1例患者因取材量少,病理结果无诊断意义,阳性诊断率为94.11%,两者结合诊断率97.67%.结论:经支气管肺活检联合刷检与经皮肺穿刺活检对肺周围型病变诊断都是安全、有效、准确、损伤小的诊断方法,两种方法联合使用可明显提高诊断率.     

原发性胃淋巴瘤临床与内镜特征分析

目的:探讨影像学检查及胃镜、超声内镜对原发性胃淋巴瘤的术前诊断方法,以提高该疾病的术前诊断率。方法:总结我院经手术及病理证实的21例原发性胃淋巴瘤资料,评估胃镜活检、超声内镜及CT对该病诊断的作用。结果:21例术前CT检查,误诊为浸润型胃癌11例,间质瘤2例,未见明显异常3例。CT术前诊断率为23.8%(5/21)。全部患者均实施胃镜检查,活检病理诊断淋巴瘤14例,胃镜活检诊断率为66.7%(14/21)。其中10名患者实施超声胃镜检查,判断胃淋巴瘤6例、胃癌3例、间质瘤1例;术前诊断率为60.0%(6/10)。结论:胃镜及超声内镜是原发性胃淋巴瘤的主要术前诊断方式;CT扫描能明确有无纵隔及腹腔内淋巴结肿大,为原发性胃淋巴瘤提供诊断依据。     

颅内原发性胚胎性癌的临床特征及预后影响因素分析

目的:探讨颅内原发性胚胎性癌的临床特征及预后影响因素,为该病的临床诊治提供参考依据。方法:回顾性分析我院经病理证实的6例颅内原发性胚胎性癌患者的临床资料,随访并比较患者的预后情况。结果:本组病例5例男性和1例女性,平均年龄9.8岁;5例病变位于松果体区,1例位于鞍区;5例头痛起病,1例表现为多尿;术前血液学检查提示:4例患者甲胎蛋白明显升高,1例患者β亚单位绒毛膜促性腺激素明显升高;3例患者手术全切,平均生存期32.0月,3例患者手术次全切,平均生存期21.0月;4例患者术后接受规范放化疗,平均生存期32.0月,1例仅行化疗,生存期22.0月,1例术后未行放化疗,生存期9.0月。结论:颅内原发性胚胎性癌是一种罕见的颅内肿瘤,多见于年轻男性,病变多位于松果体区;术前血液学检查有助于诊断;患者预后差,手术切除程度是一重要预后影响因素,术后放化疗或可延长患者的生存期。     

支气管结石合并肺部盖尔森基兴奴卡菌感染1例

本文旨在通过对1例支气管结石伴盖尔森基兴奴卡菌肺炎患者的诊治过程进行回顾,并对相关文献进行复习,以提高临床医师对此类疾病的认识。该患者为结石性体质,胸部计算机断层扫描(computed tomography,CT)提示支气管内高密度影;无痛纤维支气管镜下确诊支气管内膜结石,给予患者支气管镜下碎石、取石,并送病理科行切片活检,同时行痰涂片、痰培养寻找病原体。结果成功在肺泡灌洗液中培养出盖尔森基兴奴卡菌,针对盖尔森基兴奴卡菌感染给予敏感药物治疗3个月后痊愈。支气管结石伴盖尔森基兴奴卡菌肺炎极其罕见,尤其局限于呼吸系统感染者更为少见。此类疾病需考虑支气管内膜结石所致支气管扩张等结构性疾病存在,导致局部抵抗力低下,从而引起条件致病菌盖尔森基兴奴卡菌感染。针对此类患者,建议及早行纤维支气管镜检查并完善灌洗液涂片、抗酸染色、灌洗液培养以获得病原学证据,为治疗赢得时间。控制盖尔森基兴奴卡菌感染后,需及早行纤维支气管镜下碎石等治疗,以纠正局部结构改变,减少再次感染机会。     

侵袭性肺曲霉病临床和病理分析——附23例报告

目的 分析侵袭性肺曲霉病(IPA)临床和组织病理特征,为探讨IPA早期诊断和临床病理分型提供依据.方法 非选择性地总结本院34年来512例成人(年龄≥16岁)尸检资料,依据病理切片真菌形态确定IPA患者共23例,并进行临床和病理对照分析.结果 23例中有明确基础疾病者21例,有明确诱因者20例.临床上表现有发热等中毒症状者17例(73.91%),合并呼吸道症状者18例(78.26%),存在肺部和肺外栓塞征象者9例(3.91%).胸部影像表现和病理检查符合急性支气管肺炎型15例次,血管侵袭型12例次,急性气管支气管炎型5例次,粟粒型3例次和胸膜炎型1例次.其中急性支气管炎型和血管侵袭型常合并存在,并成为患者致死的直接原因.结论 IPA临床表现复杂多变,探讨临床尤其是胸部影像学检查和组织病理分型有利于患者的早期诊断和判断预后.     

原发性胆汁性肝硬化患者临床指标变化与肝脏病理分期的回顾性分析

目的通过肝活检检测原发性胆汁性肝硬化（PBC）患者的病理分期,并对比血生化、自身抗体等指标进一步明确各期的生化特点,便于指导临床。方法所有患者采静脉血检查肝功,自身抗体,免疫球蛋白,所有患者进行肝脏活检,分析其肝脏病理分期。结果 43例患者血清抗线粒体抗体（AMA）及AMA-M2阳性为31例（72.1%）。27例（62.8%）ANA阳性,37例（86.1%）患者血清IgM水平升高。均有肝功能指标的明显异常,以GGT及ALP升高最明显。结论对胆酶增高而原因未明的肝病患者,早期自身免疫抗体及肝脏病理检查对原发性胆汁性肝硬化的诊断及治疗具有临床指导意义。     

薄层液基细胞学检查在宫颈普查中应用的临床分析

目的:评价薄层液基细胞学检查在宫颈普查中应用的临床价值。方法:选择经薄层液基细胞学门诊普查妇女520例,其中经TCT检查结果提示ASCUS以上的妇女76例,均进一步采取阴道镜下宫颈活检病理检查,将TCT检查结果与阴道镜下宫颈活检病理检查结果对比分析。结果:TCT检查结果具有较高的检出率及符合率,HSIL组、SCC组与LSIL组符合率比较,差异具有统计学意义(P<0.05)。结论:TCT检查作为妇科宫颈普查的方法,具有检出率及符合率高的优点;检查结果为HSIL或SCC时,应引起临床极高度重视。     

表现为腹部淀粉样瘤及多系统功能异常的AA型系统性淀粉样变性1例暨文献复习

目的:报道1例AA型系统性淀粉样变性患者的临床资料和病理资料,分析该病例特殊表现,总结淀粉样变性常见的临床表现及诊治要点。方法:回顾性分析1例表现为腹部淀粉样瘤及多系统功能异常的AA型系统性淀粉样变性患者的临床资料及诊治过程,结合该例患者的临床资料及诊治过程进行文献复习,明确淀粉样变性的临床特点、诊治要点。结果:该例患者为一名62岁女性,自2012年开始相继出现四肢麻木、贫血、食欲下降、腹泻、水肿、蛋白尿及肾功能不全等多系统病变的症状。既往有"肺结核、胸椎结核"病史。病程中检查发现:重度缺铁性贫血,肾病综合征,血肌酐258μmol/L,球蛋白升高;血沉快,血轻链κ/λ比值为1.39,其他免疫学检查均阴性;骨髓细胞学检查未见异常增殖浆细胞;影像学示左下腹部一卵圆形大肿块,腹膜后多发淋巴结肿大;结肠镜检诊断为糜烂性结肠炎;腹部肿块、结肠粘膜及肾脏穿刺病理最终确诊考虑为结核感染导致AA型系统性淀粉样变性。结论:系统性淀粉样变性临床表现多样、缺乏特异性,因此常常被误诊或漏诊。本病例患者除了多系统受累的临床表现外,更为特殊的是在患者的腹部出现了一淀粉样物质所构成的淀粉样瘤,这种少见的临床表现很容易被误诊为肿瘤而延误诊治。因此,及时对该类患者进行组织活检,通过病理学及特殊染色将有助于系统性淀粉样变性的早期诊断,减少及延缓并发症的发生。     

唇腺活检、自身抗体在干燥综合征诊断中的意义

目的:探讨干燥综合征(ss)患者的唇腺活检病理表现、自身抗体及其在诊断中的意义。方法:收集85例干燥综合征患者的临床体征、唇腺活检以及其他相关辅助检查,对其唇腺活检病理标本及相关检查进行分析。结果:根据唇腺病理结果,单纯唇腺活检的阳性率为68.2%;单纯血清抗SSA/SSB抗体检出阳性率为78.8%;联合唇腺活检、抗SSA/SSB抗体疾病检出率达94.1%,与单纯唇腺活检或抗SSA/SSB抗体单项阳性的疾病检出率有统计学意义(P0.05);并且唇腺活检阳性患者较阴性患者口干或眼干持续时间长(P0.05);但腮腺ECT异常、关节肿痛、肺脏损害均较唇腺活检阴性组患者累及率高,但差异无统计学意义(P0.05)。结论:唇腺活检、自身抗体是诊断干燥综合征的必要检查,而其联合应用更具有举足轻重的意义。     

小探头超声内镜在诊治大肠黏膜隆起性病变中的价值

目的:探讨小探头超声内镜(miniprobe ultrasonography,MPS)在诊断及治疗大肠黏膜隆起性病变中的价值.方法:对经常规内镜检查提示的大肠黏膜隆起性病变患者行小探头超声内镜检查,了解病变的性质及来源,然后行针对性治疗.结果:2009年5月～2011年5月共54例患者,其中直肠25例,结肠22例,盲肠7例.根据小探头超声内镜检查结果,对其中44例黏膜隆起性病变根据病变大小及深度分别行圈套器高频电切除术、内镜黏膜切除术(endoscopic mucosal resection,EMR)或内镜黏膜下层剥离术(endoscopic submucosaldissection,ESD)等内镜下治疗,其中除结肠、盲肠囊肿及气囊肿5例外,余均送检病理,结肠、盲肠脂肪瘤6例,直肠类癌5例,大肠息肉28例,其中幼年性息肉2例,腺瘤18例,增生性息肉4例,炎性息肉4例;5例来源于固有肌层的间质瘤,其中3例直径小于1 cm的患者要求观察随访,2例行外科手术治疗,其中1例直肠巨大黏膜隆起病变小探头超声内镜来源显示不清,改为环形扫描超声内镜确定来源后再行外科手术治疗,结果均证明确实为来源于固有肌层的间质瘤;1例直肠淋巴瘤行外科手术治疗,超声内镜、内镜后病理及手术后病理均得到证实;还有2例肠腔外压迫,2例手术后改变.结论:小探头超声内镜能清楚显示消化道壁的层次及结构,对大肠黏膜隆起性病变的起源具有准确的定位作用,并能够提示病变的性质,对进一步的治疗有指导意义.     

Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images

Ciliary beat frequency (CBF) measurements provide valuable information for diagnosing of primary ciliary dyskinesia (PCD). We developed a system for measuring CBF, used it in association with electron microscopy to diagnose PCD, and then analyzed characteristics of PCD patients. The CBF measurement system was based on power spectra measured through digital imaging. Twenty-four patients suspected of having PCD (age 1-19 yr) were selected from a group of 75 children and adolescents with pneumopathies of unknown causes. Ten healthy, nonsmoking volunteers (age ≥ 17 yr) served as a control group. Nasal brush samples were collected, and CBF and electron microscopy were performed. PCD was diagnosed in 12 patients: 5 had radial spoke defects, 3 showed absent central microtubule pairs with transposition, 2 had outer dynein arm defects, 1 had a shortened outer dynein arm, and 1 had a normal ultrastructure. Previous studies have reported that the most common cilia defects are in the dynein arm. As expected, the mean CBF was higher in the control group (P < 0.001) and patients with normal ultrastructure (P < 0.002), than in those diagnosed with cilia ultrastructural defects (i.e., PCD patients). An obstructive ventilatory pattern was observed in 70% of the PCD patients who underwent pulmonary function tests. All PCD patients presented bronchial wall thickening on chest computed tomography scans. The protocol and diagnostic techniques employed allowed us to diagnose PCD in 16% of patients in this study.     

Morphological evaluation of reconstructive operations on the bronchi using a microsurgical technic in an experiment

Morphological study of bronchial anastomoses repair made with or without microsurgical techniques has been performed in 30 mongrel dogs. Comparative analysis of bronchoscopy, microscopy and scanning electronic microscopy data shows earlier epithelialization, more regular conjunction of bronchial tube and less marked inflammation in anastomosis made with microsurgical techniques. The fact may be explained by a less pronounced traumatization of bronchial tissues with microinstruments and also by tight suture of mucosal layer which creates favourable conditions for repair of anastomosis per primam.     

Fibreoptic bronchoscopy today: a review of 255 cases.

An analysis of 255 fibreoptic bronchoscopies showed that the major indication for bronchoscopy was suspected bronchial carcinoma (93% of cases). Of the 183 patients finally shown to have bronchial carcinoma 83% had abnormal bronchoscopy findings and 65% had bronchial biopsy specimens diagnostic of malignancy. These figures were superior to those obtainable with rigid bronchoscopy, particularly with upper lobe and peripheral tumours. Brush biopsy and bronchography were useful supplementary techniques. Sputum cytology gave poorer results than fibreoptic bronchoscopy, but enabled diagnosis in some otherwise undiagnosed cases. The complication rate was low and the claim of this new technique to be the investigation of choice in bronchial carcinoma seemed to be justified in clinical practice.     

Diagnosis of adenoid cystic carcinoma of the lung by bronchial brushing: a case report

BACKGROUND: A diagnosis of pulmonary adenoid cystic carcinoma on exfoliative cytology specimen is very uncommon. The diagnostic cytologic material typically is obtained following a tissue biopsy. No previous report of the diagnosis has been made on bronchial brushing cytologic material when the procedure preceded a tissue biopsy. CASE: A 44-year-old man who used to smoke cigarettes and was otherwise well complained of persistent cough for the past 6 months. A chest radiograph revealed a mass lesion in the left hilum. Computed tomography of the chest disclosed an irregular and spiculated soft tissue mass in the left apical anterior segment. Bronchial brushing via bronchoscope was performed, revealing carcinoma cells consistent with an adenoid cystic carcinoma on cytology. A bronchial biopsy and subsequent left upper lobectomy were performed, confirming the diagnosis of adenoid cystic carcinoma of the lung associated with tumor extension to the epithelial surface. CONCLUSION: A diagnosis of bronchial adenoid cystic carcinoma is possible on bronchial brushing. However, as a method in exfoliative cytology, the usefulness of bronchial brushing in diagnosing this tumor is limited by the neoplasm's proximity to the mucosal surface and whether the mucosa has been breached.     

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

Background

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary function, leading to chronic sinopulmonary disease. The genetic causes of PCD are still evolving, while the diagnosis is often dependent on finding a ciliary ultrastructural abnormality and immotile cilia. Here we report a novel gene associated with PCD but without ciliary ultrastructural abnormalities evident by transmission electron microscopy, but with dyskinetic cilia beating.

Methods

Genetic linkage analysis was performed in a family with a PCD subject. Gene expression was studied in Chlamydomonas reinhardtii and human airway epithelial cells, using RNA assays and immunostaining. The phenotypic effects of candidate gene mutations were determined in primary culture human tracheobronchial epithelial cells transduced with gene targeted shRNA sequences. Video-microscopy was used to evaluate cilia motion.

Results

A single novel mutation in CCDC65, which created a termination codon at position 293, was identified in a subject with typical clinical features of PCD. CCDC65, an orthologue of the Chlamydomonas nexin-dynein regulatory complex protein DRC2, was localized to the cilia of normal nasal epithelial cells but was absent in those from the proband. CCDC65 expression was up-regulated during ciliogenesis in cultured airway epithelial cells, as was DRC2 in C. reinhardtii following deflagellation. Nasal epithelial cells from the affected individual and CCDC65-specific shRNA transduced normal airway epithelial cells had stiff and dyskinetic cilia beating patterns compared to control cells. Moreover, Gas8, a nexin-dynein regulatory complex component previously identified to associate with CCDC65, was absent in airway cells from the PCD subject and CCDC65-silenced cells.

Conclusion

Mutation in CCDC65, a nexin-dynein regulatory complex member, resulted in a frameshift mutation and PCD. The affected individual had altered cilia beating patterns, and no detectable ultrastructural defects of the ciliary axoneme, emphasizing the role of the nexin-dynein regulatory complex and the limitations of certain methods for PCD diagnosis.     

A case of herbicide-induced acute fibrinous and organizing pneumonia?

Background

To improve the understanding of acute fibrinous and organizing pneumonia (AFOP), we present one case of AFOP proven by percutaneous lung biopsy along with clinical features, chest imaging and pathology.

Case presentation

A 50-year-old man was admitted to our department after he was given empiric therapy for community-acquired pneumonia (CAP). The clinical symptoms of the patient were dry cough, chills, night sweats and high fevers. Chest computed tomography (CT) scan showed a high-density shadow in the right lung lobe, similar to lobular pneumonia. The patient was preliminarily diagnosed with community-acquired pneumonia; however, antibacterial treatment was ineffective. To confirm the diagnosis, we performed bronchoscopy and percutaneous lung biopsy; pathology was consistent with AFOP. After he was treated with glucocorticoids, the patient’s symptoms were relieved, and the shadow seen on imaging dissipated during the follow-up period.

Conclusions

AFOP is a rare histopathological diagnosis that can be easily misdiagnosed. Clinicians need to consider the possibility of AFOP in the case of invalid antibacterial therapy.

     

The role of transbronchial lung biopsy in the diagnosis of solitary pulmonary nodule

Transbronchial lung biopsy (TBLB) is a well-recognized diagnostic technique in diffuse interstitial lung diseases, but it is not considered to be the first choice in investigation of solitary pulmonary nodules (SPN). The main idea of this study was to increase the sensitivity of bronchoscopy using multiple techniques, especially TBLB, thus to avoid more aggressive diagnostic procedures. The objective of this prospective study was to evaluate the efficacy and safety of TBLB in the diagnosis of SPN, in comparison with other bronchoscopic techniques. Fifty patients with chest x-ray finding consistent with SPN underwent bronchoscopy with bronchial washing, brushing, bronchoalveolar lavage (BAL) and TBLB were included in this study. Thirty-one patients suffered from malignant tumors, while 19 patients had nonmalignant lesions. TBLB achieved overall diagnostic sensitivity of 62%, BAL of 29%, bronchial brushing of 16% and washing of 6%. Combining all techniques together, bronchoscopy had overall sensitivity of 86%. Concerning malignant lesions, TBLB had a sensitivity of 65%, specificity of 100%, and accuracy of 82%. TBLB had a significantly better yield for lesions with a diameter > or = 25 mm than for lesions of < 25 mm (sensitivity of 82% and 53% respectively, p < 0.05). Diagnostic yield improved significantly with the increasing number of specimens (less than 3 specimens: sensitivity 59%, 3 or more specimens: sensitivity 87%, p < 0.05). Complications of TBLB occurred in 2 (4%) patients: 1 incomplete pneumothorax and 1 hemorrhage. According to the results, we conclude that TBLB is an accurate and safe technique for the diagnosis of pulmonary solitary nodule with a diameter equal or greater than 25 mm.     

第三军医大学西南医院呼吸科

支气管镜在呼吸系统疾病的诊治中有着非常广泛的应用,也是作为呼吸专科医师所必须掌握的一项临床技能。但是在对该项技术熟练之前,不能允许在病人身体直接操作,这样对呼吸专科医师的临床培训造成了较大困难。近年来,我院采用了美国模拟电子内镜教学系统进行培训,取得了满意的效果。通过该系统的训练,培训学员能对支气管镜的操作流程、操作技巧和手法,镜下气管,各叶、段支气管走行和解剖形态,病变的定位和镜下形态,以及如何对病变进行活检、支气管灌洗和出现并发症时怎样处理等,均有较为深刻的体会,并可获得多次反复练习的机会,培训所需时间也明显缩短。     

A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive disease manifested with recurrent infections of respiratory tract and infertility. DNAAF3 is identified as a novel gene associated with PCD and different mutations in DNAAF3 results in different clinical features of PCD patients, such as situs inversus, sinusitis and bronchiectasis. However, the sperm phenotypic characteristics of PCD males are generally poorly investigated. Our reproductive medicine centre received a case of PCD patient with infertility, who presented with sinusitis, recurrent infections of the lower airway and severe asthenozoospermia; However, no situs inversus was found in the patient. A novel homozygous mutation in DNAAF3(c.551T>A; p.V184E) was identified in the PCD patient by whole-exome sequencing. Subsequent Sanger sequencing further confirmed that the DNAAF3 had a homozygous missense variant in the fifth exon. Transmission electron microscopy and immunostaining analysis of the sperms from the patient showed a complete absence of outer dynein arms and partial absence of inner dynein arms, which resulted in the reduction in sperm motility. However, this infertility was overcome by intracytoplasmic sperm injections, as his wife achieved successful pregnancy. These findings showed that the PCD-associated pathogenic mutation within DNAAF3 also causes severe asthenozoospermia and male infertility ultimately due to sperm flagella axoneme defect in humans. Our study not only contributes to understand the sperm phenotypic characteristics of patients with DNAAF3 mutations but also expands the spectrum of DNAAF3 mutations and may contribute to the genetic diagnosis and therapy for infertile patient with PCD.     

Fibreoptic bronchoscopy: ten years on.

Fibreoptic bronchoscopy was introduced more than 10 years ago and is now in many centres a routine diagnostic procedure, having superseded rigid bronchoscopy. Its major role is in the diagnosis of bronchial carcinoma, where the results are as good as, if not better than, results with the rigid instrument. Other major applications have been found in investigating haemoptysis, transbronchial lung biopsy in interstitial lung disease, and in the critically ill patient in the intensive care unit. More recently, the instrument has been used to perform bronchoalveolar lavage in investigating interstitial lung diseases and to enable lobar and segmental lung function studies to be performed. Fibreoptic bronchoscopy is a major advance in the diagnosis of pulmonary diseases, but there will always be times when rigid bronchoscopy is preferable.