96例冠心病介入治疗患者ABCA1基因启动子区-477C/T单核苷酸多态性分析

目的研究ABCA1基因启动子区-477C／T单核苷酸多态性（SNP）与血浆高密度脂蛋白胆固醇（HDL-C）和冠心病的关系。方法用聚合酶链反应、限制性酶切法（PCR-RFLP）检测96例冠心病患者和100例正常人的ABCA1基因启动子区-477位点基因型，比较基因型在冠心病组与正常人组间、冠心病组中不同病变亚组之间分布的差异性及3种基因型与冠心病相关临床指标的关系。结果冠心病组与正常人组比较，3种基因型CC、CT、TT分布频率差异具有显著性。TT基因型、T等位基因在冠心病组中的分布频率明显高于对照组（P〈0．05、P〈0．01）。冠心病组中，急性冠脉综合征组TT基因型、T等位基因明显高于稳定性心绞痛组（P〈0．05、P〈0．01），多支病变组TT基因型明显高于单支病变组（P〈0．05），TT基因型血浆I-IDL-C水平明显低于CC基因型（P〈0．01）。结论ABCAl基因启动子区-477C／TSNP可显著影响中国冠心病者血浆HDL-C水平，而且与冠心病严重程度相关。     

内皮型一氧化氮合酶基因Glu-298Asp多态性与冠心病及冠脉狭窄程度的关系

目的：探讨冠心病（coronary heart disease,CHD）患者内皮型一氧化氮合酶（endothelial nitric oxide synthase,eNOS）基因多态性与CHD及冠状动脉狭窄程度之间的关系。方法：收集2006年1月～2007年1月在我院行冠状动脉造影的病例,PCR检测eNOS基因谷氨酸一天门冬氨酸（Glu-298Asp）多态性,计算冠脉造影积分,比较不同eNOS基因型与CHD及冠状动脉病变狭窄程度之间的关系。结果：eNOS基因Glu--298Asp多态性在80例CHD患者中,TT基因型15例（0．19）,TG基因型21例（0．26）,GG基因型44例（0．55）;与对照组比较,TT和TG基因型的构成比有增加趋势。CHD组的T等位基因频率为0．32,G等位基因频率为0．68,CHD组的T等位基因频率显著高于对照组（P〈0．05）。CHD组不同基因型患者病变冠脉积分和冠脉病变积分差异显著。结论：在研究对象中,eNOS基因Glu-298Asp多态性与CHD及冠状动脉狭窄程度相关。     

HSP70基因多态性与宁夏回汉民族2型糖尿病的关联研究

目的：探讨热休克蛋白70（heat shock protein 70,HSP70）家族基因多态性与宁夏回汉族人群2型糖尿病（ type 2 diabetes mellitus,T2DM）之间的关联。方法采用病例对照研究设计,按照纳入与排除标准,于2010年3月至2011年10月在宁夏医科大学第二附属医院与教学医院（吴忠市人民医院）收集201例T2DM患者和471例按年龄、性别、民族匹配的健康人为研究对象。应用聚合酶链反应－限制性片段长度多态性（ polymerase chain reaction-restriction fragment length polymorphism ,PCR-RFLP）技术分析基因HSP70-1（＋190G／C）、HSP70-2（＋1267A／G）和HSP70-hom（＋2437T／C）的基因型及等位基因分布的频率。采用礸2检验及Logistic回归分析研究指标与T2DM间的关系。结果 HSP70-1、HSP70-hom基因各基因型及等位基因频率在病例组及对照组的分布差异均无统计学意义（P＞0．05）,而病例组HSP70-2基因GG基因型及G等位基因频率明显高于对照组,差异均有统计学意义（礸2＝14．737,12．769,P＜0．01）;HSP70-1、HSP70-2、HSP70-hom基因各基因型及等位基因频率在回汉族人群中分布的差异均无统计学意义（ P＞0．05）;病例组与对照组中不同性别人群HSP70-1基因＋190位点和HSP70-hom基因＋2437位点基因型及等位基因频率分布的差异均无统计学意义,病例组男性HSP70-2基因型频率分布与女性比较差异无统计学意义（P＞0．05）,而等位基因频率的差异有统计学意义（礸2＝4．165,P＜0．05）;病例组男性HSP70-1、HSP70-hom基因各基因型及等位基因频率与女性比较差异均无统计学意义（P＞0．05）;多因素Logistic回归分析显示,T2DM患病的危险因素主要有腰围（waist circumference,WC）、甘油三酯（triglycerides,TG）、总胆固醇（total cho-lesterol,TC）、低密度脂蛋白胆固醇（low-density lipoprotein cholesterol,LDL-C）、收缩压（systolic blood pressure,SBP）、糖尿病家族史、G等位基因;而高密度脂蛋白胆固醇（ high-density lipoprotein cholesterol ,HDL-C）为其保护性因素。结论 HSP70-2基因GG基因型及G等位基因携带可能与T2DM的发病有关;宁夏回汉民族间HSP70家族基因各基因型及等位基因频率的分布无明显差异;糖尿病家族史、LDL-C、TC、HSP70-2 G等位基因是影响回汉族人群T2DM发病的重要危险因素;不同性别间HSP70-2基因G等位基因频率的分布可能存在差异,有待进一步研究证实。     

丝素蛋白多孔支架在大鼠脊髓血管化中的实验研究

目的探讨梅毒患者红细胞CRl密度相关基因型的频率分布。方法采用聚合酶链反应（PCR）、限制性内切酶Hind Ⅲ酶切技术测定患者红细胞CRl密度相关基因多态性。结果患病组中CRl基因HH、HL和LL基因型分布频率分别为58．75％、35．00％和6．25％,对照组中HH、HL和LL基因型分布频率分别为68．75％、26．25％和5．00％。两组CRl基因型的分布频率差异无显著性（P〉0．05）;梅毒患者组基因突变率为41．25％,对照组为31．25％,也无显著性差异（P〉0．05）。结论梅毒患者的红细胞免疫功能低下与红细胞CRl基因发生突变关系不密切。     

冠心病合并2型糖尿病患者冠状动脉造影结果分析

目的探讨冠心病（CHD）合并2型糖尿病（NIDDM）患者冠状动脉（冠脉）造影特点。方法对126例冠心病合并2型糖尿病患者（DM）及与之配对的非糖尿病冠心病患者（CHD）189例进行临床表现和血管造影资料对照分析。结果DM组与CHD组两组间3支病变比较差异有统计学意义（P〈0．05）。DM组3支病变发生率高于CHD组,两组均以RCA病变发生率比较差异有统计学意义（P〈0．05）,即DM组RCA病变的发生率高于CHD组（P〈0．05）。结论冠心病合并2型糖尿病患者高血脂比例较高,冠脉病变广泛且复杂。     

Nrf2基因单核苷酸多态性与急性高原病相关性研究

目的：探讨中国汉族人群中Nrf2基因多态性与急性高原病（ AMS）易感性的关系。方法采用巢式病例研究方法,以603名急进3700 m高原的中国汉族青年男性为研究对象,根据路易斯湖评分系统（ LLSS）分为病例组（n＝369）和对照组（n＝234）,采用Sequenom Mass Array 质谱阵列技术检测两组人群Nrf2基因位点rs10497511和rs2364722的基因多态性。结果病例组与对照组中rs10497511和rs2364722位点分别检测出T、C和A、G等位基因;两位点等位基因频率在两组间差异无统计学意义（P＞0．05）。进一步对2个位点的基因型共显性模型、显性模型和隐性模型分析也未提示差异有统计学意义（P＞0．05）。结论 Nrf2基因rs10497511和rs2364722位点多态性与中国汉族男性人群AMS发病可能无相关性。     

基质金属蛋白酶-9基因多态性与2型糖尿病大血管并发症的相关性研究

目的探讨MMP-9基因启动子区（2-1562-T基因多态性与2型糖尿病大血管并发症的相关性。方法利用PCR-RFLP方法对288名相互无血缘关系的2型糖尿病患者（实验组）及120名健康对照者（正常对照组）MMP-9基因启动子区C-1562-T位点等位基因和基因型进行测定。结果①实验组中MMP-9C-1562-T基因位点发现C、T两种等位基因和CC、CT、TT3种基因型;但在正常对照组中未检测到TT基因型,实验组中TT基因型仅发现6例,统计学分析显示实验组和正常对照组间这2种等位基因和3种基因型的分布无差异。②在实验组中,2型糖尿病无大血管病变组与合并大血管病变组比较CC基因型与C等位基因显著增加（P〈0．01）;在分别对糖尿病合并冠心病、下肢动脉硬化闭塞症的分析中发现,与合并冠心病、下肢动脉硬化闭塞症者相比,无相应并发症组的CC基因型与C等位基因均增加（P〈0．05）;但合并脑血管病变组与无脑血管病变组比较,增加趋势无显著性差异（P〉0．05）。结论①2型糖尿病与正常人群中MMP-9基因启动子区C-1562-T基因位点CT和TT基因型与C、T等位基因频率分布相同。②在2型糖尿病人群中,CC基因型与C等位基因在糖尿病无大血管病变者中显著升高,提示其可能是糖尿病大血管病变的保护型基因。     

CRELD1基因多态性与新疆维吾尔族先天性心脏病相关性研究

目的研究CRELD1基因单核苷酸多态性与新疆维吾尔族先天性心脏病的关系。方法选择112例新疆维吾尔族先天性心脏病患者和112例年龄、性别匹配的对照者。选择CRELD1基因的6个SNPs（m3894571、~3846167、m2302785、m279552、m17050660、m279551）,应用TaqManSNP基因分型的方法进行基因分型,分析CRELD1基因单核苷酸多态性与新疆维吾尔族先天性心脏病的相关性。结果患者年龄和性别在入选样本时进行了匹配,所以在分析时进行了剔除。对先心病患者母亲的年龄、文化程度、忧虑情绪、饮食状况等基本情况进行单因素分析,结果显示年龄、文化程度、忧虑情绪、饮食状况等因素与先心病发生有关联。病例组与对照组CC、CT及TT基因型频率分别为74．35％、22．28％、3．37％和83．03％、16．07％、0．90％,两组比较无统计学差异（r=5．488,P〉0．05）。两组均以CC型为主,等位基因以C占优势,病例组TT基因型频率高于对照组,但是差异无统计学意义（P〉0．05）,而CT、CT＋TT基因型频率和携带T等位基因频率高于对照组,有统计学意义（P〈0．05）。应用Logistic回归分析先心病主要相关因素：母亲年龄、文化程度、忧虑情绪、饮食状况对结果的影响,rs3894571CT、CT＋TT、CT、等位基因T因素进入回归方程。结论CRELD1基因核苷酸多态性与新疆维吾尔族先天性心脏病有相关性。     

XRCCl基因多态性与青海世居汉族乳腺癌关系的研究

目的：研究青海世居汉族人群乳腺癌易感性与x射线损伤修复交叉互补基因1（XRCC1）C26304T位点基因多态性的相关关系。方法：应用聚合酶链反应一限制性片段多态性（PCR—RFLPs）方法检测青海世居汉族人群30例乳腺癌患者（乳腺癌组）及30例乳腺良性病变患者（对照组）XRCClC26304T基因多态性分布情况。同时运用统计学方法对XRCClC26304T的基因型和基因频率进行分析。结果：XRCC1C26304T基因CC、CT、TT基因型在对照组中分别是56．7％、33．3％、10％,而在乳腺癌组中分别是50．0％、36．7％、13．3％。TT基因型在对照组及乳腺癌组中,相对于CT、CC基因组表达较低,但是对照组和乳腺癌组间并没有明显差异（P〉0．05）。经过分析,c、T基因频率在对照组中是0．733、0．267,而在乳腺癌组中是0．683、0．317,两组比较,c、T基因频率也无明显差异（P〉0．05）。结论：XRCClC26304T基因多态性可能与青海世居汉族人群乳腺癌易感性无关。     

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。     

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.     

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.     

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.