散发性结直肠癌微卫星不稳定性与Mt-P53及Bcl-2蛋白表达

目的 探讨散发性结直肠癌微卫星不稳定性与Mt-P^53及Bcl-2蛋白表达的关系。方法 应用放射性同位素为基础的聚合酶链式反应（PCR）技术检测了48例散发性结直肠癌中四个位点的微卫星不稳定性， 应用免疫组织化学技术对癌基因Bcl-2、抑癌基因Mt-P^53蛋白的表达。结果（1）48例散发性结直肠癌中四个微卫星位点D2S123、BAT－26、D17S261、D17S799的微卫星不稳定性检出率分别为12．5％、18．8％、10．4％、8．3％；（2）Mt-P^53蛋白和Bcl-2蛋白阳性率分别为66．7％和77．1％；（3）微卫星不稳定性与Mt-P^53和Mt-P^53蛋白 表达均相差不显著（P＞0．05）。结论 微卫星不稳定性引起散发性结直肠癌的REP途径是不同于由抑癌基因P^53失活及癌基因Bcl-2激活引起的LOH途径的新致癌机制。     

宫颈癌染色体杂合性缺失和微卫星不稳定性分析

目的：分析宫颈癌染色体部分位点杂合性缺失（LOH）及微卫星不稳定性（MSI），探讨其与宫颈癌的关系。方法：选取6个微卫星位点，采用PCR、变性聚丙烯酰胺凝胶电泳及硝酸银染色对59例宫颈癌和49例宫颈上皮内瘤变（CIN）标本进行检测。结果：所有位点的CIN和浸润癌之间的MSI无统计学差异，而D3S1234、D3S1300和D3S1289位点在低级别CIN、高级别CIN和浸润癌三者之间的LOH差异有统计学意义。结论：染色体3p区域的LOH是宫颈癌中的早期事件，而染色体4p区域的LOH在宫颈癌早、晚期均可见到，因此，联合检测多个位点的LOH对于宫颈癌的早期诊治及判断预后有重要意义。     

胃癌DNA错配修复基因hMSH2突变研究

采用ＰＣＲ、聚丙烯酰胺电泳、单链构象多态性分析及银染技术,检测３０例胃癌组织ＤＮＡ微卫星不稳定（ＭＳＩ）及ｈＭＳＨ２基因突变情况。探讨错配修复（ＭＭＲ）基因与胃癌的关系及发生的分子机制。结果显示３０例胃癌中有８例表现ＭＳＩ;有５例６次检测到ｈＭＳＨ２基因突变,其中生殖细胞突变２次,体细胞突变４次。本研究结果认为,胃癌组织ＤＮＡ中存在ＭＳＩ和ＭＲＲ基因突变。部分胃癌的发生机制可能为ＭＭＲ基因缺陷导致     

Keratin 13基因在喉癌发生中的作用

探讨keratin 13基因在喉癌发生中的作用。方法在keratin 13基因内部及附近选择5个微卫星引物进行LOH分析，于DNA水平间接检测100例喉癌患者中该基因的缺失情况。结果5个STR位点均存在LOH，其中D17S1964E、D17S2092、D17S791、D17S1665及D17S808位点的LOH频率分别为30．48％、26．02％、21．62％、37．66%和21．51％，以D17S1665位点的LOH频率最高，杂合性丢失与临床分期无显著相关。结论Keratin13基因在喉癌的发生中具有重要作用，具体机制有待进一步研究。     

ACE基因插入/缺失及β2肾上腺素受体基因多态性与房颤的相关性研究

目的：研究血管紧张素转换酶基因插入／缺失（ACEI／D）多态性及隧肾上腺素受体基因（β2-AR＋46A—G）多态性与心房颤动的相关性，寻找房颤发病的分子机制。方法：选择55例房颤患者（房颤组）及63例非房颤者（对照组），用PCR的方法检测两组ACE基因插入／缺失多态性，用RFLP法检测隧-AR＋46A→G变异。结果：房颤组与对照组ACEI／D多态性缺失纯合型（DD型）、杂合子（DI型）、插入纯合型（Ⅱ）基因型频率分别为32．76％、41．8％、25．5％和19．0％、44．4％、36．5％；房颤组与对照组β2-AR＋46A→G多态性Gly16纯合型、Arg16纯合型、Gly16／Arg16基因型频率分别是12．7％、17．47％、61．8％和14．3％、25．3％、60．3％；房颤组与对照组D等位基因、I等位基因分布频率为53．6％、46．4％和41．2％、58．7％；房颤组与对照组Gly16等位基因、Arg16等位基因分布频率为39．6％、60．4％和38．9％、61．1％；其中D等位基因分布频率在房颤组中较对照组明显增大；在9种不同基因型联合中发现，Gly／Arg型＋DD型和Gly型＋DD型的两种联合在房颤组和对照组间的分布有明显差异（P〈0．05），且这两种联合基因型发病相对危险度（OR）=2．455（95％CI：1．080～5．579）。结论：D等位基因可能是房颤的易患因素；ACEDD基因型与心肌纤维化及心脏重构的关系较为紧密，β2-AR基因＋46A→G多态性、ID基因型和Ⅱ基因型与心肌纤维化及心脏重构无明显相关性；β2-ARGly16等位基因与ACEDD基因型的联合可能对房颤的患病有着潜在的影响。     

血管紧张素转换酶基因多态性与房颤心肌纤维化的相关性研究

目的：研究血管紧张素转换酶基因（ACE）插入／缺失多态性与心肌纤维化及心房纤颤的相关性，以寻找心房纤颤发病的分子机制。方法：选择50例房颤患者（房颤组）及43例非房颤者（对照组），用PCR方法检测两组ACE基因插入／缺失多态性；用ELISA法测定心肌纤维化的指标（Ⅰ型前胶原羧基端肽、Ⅲ型前胶原氨基端肽）．比较不同基因型、不同等位基因的分布及Ⅰ型前胶原羧基端肽（PIP）和Ⅲ型前胶原氨基端肽（PⅢP）的血清浓度。结果：房颤组与对照组ACEI／D多态性缺失纯合型（DD型）、杂合子（DⅠ型）、插入纯合型（Ⅱ型）基因型频率分别为34％、40％、26％和18．6％、41．9％、39．5％；房颤组与对照组D等位基因、Ⅰ等位基因分布频率为54％、46％和39．5％、60．5％；对不同基因型分布比较发现：D等位基因分布频率在房颤组中较对照组明显增大（P〈0．05）；房颤组PIP、PⅢP浓度明显高于对照组（P〈0．05）；在不同基因型之间PIP、PⅢP浓度比较中发现，DD基因型PIP、PⅢP浓度显著高于DⅠ型和Ⅱ型（P〈0．05）。结论：D等位基因可能是房颤的易患基因；房颤患者心肌纤维化指标PIP、PⅢP显著升高；ACEDD基因型可能是心肌纤维化及心脏重构的危险因素。     

188 Re-抗CEA单克隆抗体与白细胞介素12基因抗结肠癌协同效应

目的在非免疫缺陷荷结肠癌动物模型上观察^188Re-抗癌胚抗原（CEA）单克隆抗体（C50）与白细胞介素12（IL12）基因抑制肿瘤生长的协同作用：方法建立小鼠荷结肠癌动物模型，随机分组后分别施以化疗（CT）、^188Re-C50放射免疫治疗（RIT）、IL12基因治疗（GT）及RIT与IL12 GT联合治疗，治疗后3周比较上述各组及对照组（注射生理盐水）的抑瘤效果，同时采用酶联免疫吸附法检测GT、RIT及GT＋RIT3组血清IL12水平；并于治疗6h时采用流式细胞仪检测3组小鼠肿瘤不同周期细胞比率。结果不同治疗后3周各组肿瘤体积、质量比较示，RIT组与RIT＋GT组肿瘤体积和质量均明显低于CT组和对照组（P〈0．01），RIT、RIT＋GT两组间差异有显著性（P〈0．01）。血清IL12水平以RIT＋GT组最高，与GT和RIT两组相比差异有显著性（P〈0．01）。RIT、GT和RIT＋GT3组肿瘤S期细胞分别占10．41％、27．53％和6．25％，G0～G1期细胞分别占68．60％、53．54％和72．21％；而对照组分别为33．14％和35．12％。结论^188Re-C50与IL12基因联合可有效抑制肿瘤生长，疗效优于单独CT、RIT及IL12 GT：RIT＋GT可明显降低肿瘤S期细胞比率，并增加G0～G1期细胞比率；^188Re-C50可上调IL12基因表达。     

粪便中检测K-ras基因突变对老年大肠癌诊断价值的研究

探讨粪便K-ras基因检测在老年大肠癌临床诊断中的价值。收集连续就诊的23例老年大肠癌患者，20例结肠癌瘤性息肉患者及20名健康老年查体者的粪便，并从中提取DNA，应用等位基因特异性杂交技术检测粪便K-ras基因第12位密码子第1，2位碱基突变情况。结果K-ras基因突变在大肠癌患者为56．52％（13／23），明显高于正常查体者的5％（1／20）（P＜0．01），与结肠腺瘤性息肉组的30％（6／20）比较，差异无显著性意义（P＞0．05）。92．31％（12／13）的大肠癌K-ras基因突变位点发生在第12位密码子第2位碱基。研究表明，结肠癌患者组织及粪便中K-ras基因突变的检出具有良好的一致性，提示粪便中检测K-ras基因突变是一种无创性的老年大肠癌的诊断方法。     

空洞性肺癌的CT表现

目的：分析空洞性肺癌的CT表现及病理基础，以提高诊断水平。材料和方法：回顾性分析经病理证实46例空洞性肺癌的CT表现，并与病理结果对照。结果：46例中，鳞癌30例（65．2％）、腺癌8例（17．4％）、大细胞癌4例（8．7％）、小细胞癌3例（6．5％）和混合性癌1例（2．2％）。CT表现：（1）肿块边缘具有恶性肿瘤的征象（毛刺征n=29，63．0％；分叶征n=26，56．5％；胸膜凹陷征n=25，54．3％；远侧阻塞性改变n=35，76．1％）；（2）多为厚壁空洞（≥5mm38例，82．6％）；（3）空洞壁厚薄不均（32例，69．6％）；（4）空洞大（〉3cm23例，50．0％）；（5）多有壁结节（36例，78．3％）；（6）空洞多偏心（25例，54．3％）。结论：空洞性肺癌易发生于鳞癌，给合CT特征性表现对大多数患者可作出正确诊断。     

青海蒙族群体8个STR位点遗传多态性研究

目的：研究青海蒙族人群第21号染色体D21S1432、D21S1435、D21S1270、D21S1440、D21S1446、GATA24H09、ATA42C09、GATA129D11等8个STR位点的遗传多态性。方法：运用PCR扩增、6%变性聚丙烯酰胺凝胶电泳结合银染技术对30位无关个体蒙族人群进行多态性研究。结果：8个位点分别检测出6、5、7、5、6、5、5、5个等位基因片段,共140个基因型,频率分布在0.025 09~0.046 43之间,多态性分布符合Hardy-weinberg平衡定律。8个STR位点多态信息量（PolymorpHism information content,PIC）分别为0.699 4、0.703 9、0.759 2、0.638 0、0.672 0、0.685 0、0.674 0、0.691 9,累积多态信息量为0.688 9。期望杂合度（heterozygosity,HET）分别为0.740 2、0.748 3、0.790 4、0.682 2、0.741 5、0.7271、0.742 5、0.725 5,累积杂合度为0.758 9。累积个体识别率（discrimination power,DP）为0.989 6,累积排除率（probabilities of paternity exclusion,PE）为0.999 6。结论：青海蒙族8个位点STR基因座的多态性数据显示其基因分布特征具有特异性。     

Staging and surgical management of pancreatic and biliary cancer and inflammation

Management of benign and malignant diseases of the pancreas, liver, and biliary tract has made remarkable progress in the last two decades. Advances in minimally invasive surgery, interventional radiology, and diagnostic and therapeutic endoscopy have changed the treatment of common diseases such as cholelithiasis and more serious diseases such as pancreatic adenocarcinoma. Advances in biliary tract and pancreatic surgery have paralleled the advances in ultrasonographic imaging, CT, and MR imaging. This article outlines the surgeon's perspective on radiologic imaging and preoperative staging of benign and malignant biliary and pancreatic disease.     

Physiologic and pathologic calcifications and ossifications in the face and neck

The aim was to give a systematic presentation of physiologic and pathologic calcifications and ossifications in the face and neck with a special emphasis on clinical relevance. In a sometimes subacute setting one should recognize specific calcifications which often lead to important diagnoses such as fungal sinusitis or sclerosing labyrinthitis. In a more chronic situation intraocular calcifications in small children are pathognomonic for retinoblastoma. Juxtatumoral sclerosis of the laryngeal cartilage in laryngopharyngeal carcinoma is usually caused by tumor infiltration of the cartilage resulting in a higher tumor stage and, this way, has a major impact on the therapeutical strategy. Calcified lymph nodes are mainly unspecific but can be the result of tuberculosis or metastases of thyroid cancer. Cross-sectional imaging methods, most of all computed tomography, are ideally suited to reveal head and neck calcifications and ossifications, especially those which are clinically relevant.     

Head and neck infection and inflammation

This article discusses the imaging manifestations of infectious and inflammatory conditions of the head and neck. Special attention is paid to the sites, routes of spread, and complications of neck infections. Because the clinical signs and symptoms and the complications of these conditions are often determined by the precise anatomic site involved, anatomic considerations are stressed. Familiarity with the fascial layers, spaces of the neck, and the contents of each space is helpful for this discussion. The fascial layers of the neck are important barriers to infection, and once infection is established, the fascial layers play a part in directing its spread.     

细胞自噬与肿瘤发生发展

自噬是真核生物中一种高度保守的胞内降解途径.其主要通过溶酶体或液泡进行饥饿状态下的营养动员,清除受损蛋白质、细胞器和胞内病原体.自噬主要包括巨自噬、分子伴侣介导自噬(CMA)和微自噬.自噬已被证实与多种人类疾病相关,其在肿瘤发生发展中具有重要意义.近年研究中,对于自噬和肿瘤关系有了进一步的认识,该文就自噬分子机制、调控通路以及与肿瘤发生发展关系的研究进展作一综述.     

The thyroid and parathyroid glands. CT and MR imaging and correlation with pathology and clinical findings

Thyroid imaging approach is based on the preliminary clinical evaluation. Lesions that are smaller than 2 cm should be assessed with US, which is capable of discriminating masses as small as 2 mm and distinguishing solid from cystic nodules. US-guided FNAB provides tissue for cytologic examination of thyroid nodules. CT and MR imaging are indicated for larger tumors (greater than 3 cm diameter) that extend outside the gland to adjoining structures, including the mediastinum, and retropharyngeal region. Metastatic lymph nodes in the neck and invasion of the aerodigestive tract are also in the realm of CT and MR imaging. Thyroid nodules are categorized on scintigraphy as hot or cold nodules. Hot nodules are rarely malignant, whereas cold nodules have an incidence of 10% to 20% of malignancy. Calcifications (amorphous, globular, nodular, and linear) occur in adenomas and carcinomas and have no differential diagnostic features except for psammomatous calcifications, which are a pathognomonic finding in papillary carcinomas and a small percentage of medullary carcinomas. Papillary carcinoma is the most common malignant tumor (80%) followed by follicular (20% to 25%); medullary (5%); undifferentiated; anaplastic carcinomas (< 5%); lymphoma (5%); and metastases. Lymph node metastases are common in papillary carcinoma, 50% at presentation, and less common in follicular carcinomas. The metastatic nodes in papillary carcinoma may enhance markedly (hypervascular); show increased signal intensity on T1-weighted images (increased thyroglobulin content or hemorrhage); and reveal punctate calcifications. Localized invasion of the larynx, trachea, and esophagus occurs predominantly in papillary and follicular carcinomas; the incidence is less than 5%. Ectopic thyroid tissue may be encountered in the tongue (foramen cecum); along the midline between posterior tongue and isthmus of thyroid gland; lateral neck; mediastinum; and oral cavity. Goiter and malignant tumors, notably papillary carcinoma, may develop in ectopic thyroid tissue. Carcinomas may also arise in thyroglossal duct cysts, which develop from duct remnants between the foramen cecum and thyroid isthmus. Infectious disease of the thyroid gland is not common and the CT and MR imaging findings are similar as described under neck infection. Other types of inflammatory disorders including Hashimoto's thyroiditis, granulomatous thyroiditis, and Riedel's struma display no specific imaging features. Imaging studies may, however, be indicated to confirm a suspected clinical diagnosis and assess compromise of the airway (Riedel's struma). HPT is a clinical diagnosis in which hypercalcemia is the most important finding. Parathyroid hyperplasia, adenoma, and carcinoma represent underlying lesions. To relieve the patient's symptoms surgical extirpation is indicated. The surgical success rate without imaging is 95%. The indications for imaging studies vary but it is generally agreed that reoperation after a previous failed surgical attempt and suspicion of an ectopic parathyroid adenoma should be investigated by imaging. These consist of US, nuclear medicine studies, CT and MR imaging. US and technetium sestamibi scanning have the highest accuracy rate for localizing an adenomatous gland at and near the thyroid gland. Ectopic adenomas, particularly if they are located in the mediastinum, are preferrably investigated with CT and MR imaging with gadolinium and fat suppression. Carcinomas and parathyroid cysts are optimally evaluated by CT and MR imaging. On MR imaging adenomas are low in signal intensity on T1-weighted images, high in signal intensity on T2-weighted images, and enhance post introduction of gadolinium.