肿瘤坏死因子-α基因多态性与乙型肝炎病毒宫内感染易感性的关系

目的 探讨肿瘤坏死因子-α(TNF-α)基因-238位点G／A单核苷酸多态性与乙型肝炎病毒(HBV)宫内感染易感性的关系。方法 应用实时荧光定量聚合酶链反应技术检测HBV标志物阳性母亲所生45例HBV宫内感染儿童(Ⅰ组)、85例宫内未感染儿童(Ⅱ组)和126例对照组儿童TNF-α基因-238位点G／A单核苷酸多态性。结果 HBV宫内感染组TNF-α基因-238位点A等位基因频率显著高于HBV宫内未感染组(X^2=6．797，P=0．009)和对照组(X^2=9．513，P=0．002)，HBV宫内未感染组和对照组之间差异无显著性(X^2=0．047，P=0．828)。结论 TNF-α基因启动子区-238位点A等位基因与HBV宫内感染易感性相关，可作为检测其遗传易感性的标志之一。     

慢加急性乙型肝炎肝衰竭患者血清IFN-γ基因多态性分析

目的 探究慢加急性乙型肝炎肝衰竭(HBV-ACLF)患者血清γ-干扰素(IFN-γ)基因多态性分布特点。方法 2017年5月～2019年9月我院收治的HBV-ACLF患者60例,另选择同期健康体检者60例作为对照。采用Taqman探针荧光定量PCR法检测外周血IFN-γ基因多态性位点+874T/A和+2109A/G基因型,采用x²检验和Hardy-Weinberg平衡检验IFN-γ基因SNP位点+874T/A和+2109A/G基因型和等位基因频率分布差异。结果 在IFN-γ+874T/A位点,ACLF患者TT基因型为48.3%,显著低于健康人的56.7%,而AA基因型为31.7%,显著高于健康人的13.3%(P＜0.05),在等位基因频率分布方面,ACLF患者T等位基因频率为58.3%,显著低于健康人的71.7%,而A等位基因频率为41.7%,显著高于健康人的28.3%(P＜0.05);在IFN-γ+2109A/G位点,ACLF患者显性等位基因纯合子AA基因型频率为53.3%,显著低于健康人的66.7%,隐性等位基因纯合子GG基因型频率为28.3%,显著高于对照组的10.0%(P＜0.05),在等位基因频率分布方面,ACLF患者A等位基因频率为62.5%,显著低于对照组的78.3%,而G等位基因频率为37.5%,显著高于对照组的21.7%,差异具有统计学意义(P＜0.05)。结论 IFN-γ基因多态性与乙型肝炎患者发生ACLF可能存在某种关系,其中IFN-γ基因+874T/A位点中的A等位基因和+2109A/G位点中的G等位基因可能是患者发生HBV-ACLF的风险等位基因,监测外周血IFN-γ基因多态性对及时准确地预测ACLF的发生可能具有一定的临床意义。     

慢加急性乙型肝炎肝衰竭患者外周血IFN-γ基因多态性分析及其临床意义探讨

目的探讨乙型肝炎病毒感染引起的慢加急性肝衰竭患者血IFN-γ基因多态性。方法采用单核苷酸多态性(SNP)技术检测51例ACLF患者和50例健康人血IFN-γ基因内含子+874位点T/A和+2109位点A/G单核苷酸多态性。结果 ACLF患者+874位点TA+AA基因型频率(54.9%)显著高于健康人(24.0%),A等位基因频率(38.2%)显著高于健康人(22.0%,P0.05);ACLF组+2109位点AG+GG型基因型频率(51.0%)显著高于健康人(26.0%),G等位基因(32.4%)显著高于健康人(16.0%,P0.05);在3 m末,28例生存与23例死亡的ACLF患者+874、+2109位点等位基因和基因型频率分布无显著性差异(P0.05)。结论 IFN-γ基因+874位点A等位基因和基因型、+2109位点G等位基因和基因型是ACLF的遗传易感基因。     

TNF-α基因启动子多态性与HBV感染转归的关系

目的:探讨中国汉族人肿瘤坏死因子-α(tumor necrosisfactor-α,TNF-α)基因启动子单核苷酸多态性与乙型肝炎病毒(hepatitis B virus,HBV)感染结果之间的关系.方法:慢性乙型肝炎患者131例,HBV感染自愈者165组应用聚合酶链反应-限制性片段长度多态性分析方法,检测HBV感染自愈者和慢性乙型肝炎患者TNF-α基因启动子-238G/A,-308G/A,-857C/T和-863C/A单核苷酸多态性位点基因型.结果:对慢性乙型肝炎组和HBV感染自愈组人群TNF-α基因启动子区域的-238G/A,-308G/A,-857C/T和-863C/A 4个SNP位点进行基因型分析,共发现12种启动子基因型,以GG·GG·CC·CC,GG·GG·CC·CA,GG·GG·CT·CC和GG·GA·CC·CC基因型多见,约占85%.通过对慢性乙型肝炎患者和HBV感染自愈者TNF-α基因启动子4个位点基因型联合分析发现,GG·GG·CC·CC,GG·GG·CC·CA和GG·GA·CC·CC基因型在慢性乙型肝炎组和HBV感染自愈组分布差异有显著性,其中携带GG·GG·CC·CC基因型的个体患慢性乙型肝炎的机会比(odds ratio,OR)为2.15,95%可信区间为1.34-3.45;而携带GG·GG·CC·CA或GG·GA·CC·CC基因型的个体患慢性乙型肝炎的OR分别为0.48(95%可信区间为0.27-0.86)和0.35(95%可信区间为0.14-0.89).HBV感染的清除可能与GG·GG·CC·CA(X2=6.14,P=0.013＜0.05)和/或GG·GA·CC·CC(X2=5.18,P=0.023＜0.05)基因型有关.进一步对各位点单核苷酸多态性分析发现,慢性乙型肝炎患者和HBV感染自愈者TNF-α基因启动子-238G/A、-857C/T位点基因型分布频率差异无显著性,而-308G/A,-863C/A位点基因型分布频率差异有显著性(-308G/A位点,X2=6.53,P=0.011＜0.05,OR=3.05;-863C/A位点,X2=4.33,P=0.037＜0.05,OR=1.69).结论:TNF-α基因启动子-308G/A、-863C/A位点多态性与中国汉族人HBV感染后的结果有关,其中TNF0-α308G/A和/或-863C/A位点A等位基因的存在可能有利于HBV感染的清除.     

北方汉族慢性乙型肝炎患者TNF-α启动子区基因多态性的分析

目的探讨TNF-α启动子区基因多态性对宿主感染乙型肝炎病毒(hepatitis B virus,HBV)慢性化结局的关联。方法用病例-对照研究方法,291例慢性乙型肝炎患者作为病例组和212例乙型肝炎病毒自限性感染者作为对照组,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对TNF-α基因启动子区-238G/A、-857C/T、-863C/A位点进行基因分型。结果携带TNF-α-238 GA基因型、-857 CC基因型是HBV感染后宿主发展为慢性乙型肝炎的易感因素(P0.05);3个位点组成的单体型-238G/-857C/-863A的频率在慢性乙肝组显著高于HBV自限感染组。结论TNF-α启动子区基因多态性可能对宿主感染HBV慢性化结局产生影响。     

肺结核患者肿瘤坏死因子-α基因多态性的研究

目的通过病例-对照研究,探讨肿瘤坏死因子-α(TNF-α)基因启动子区-238A/G、-308A/G位点单核苷酸多态性(SNP)与肺结核病的关系。方法采用序列特异性引物PCR(PCR-SSP)及测序技术检测深圳地区汉族人群肺结核患者200例及健康对照者197例TNF-α启动子区-238A/G、-308A/G位点基因多态性。采用直接计数法计算各组基因型频率及等位基因频率,并进行χ2检验;采用SHEsis软件进行单倍型分析。以P值0.05为具有统计学意义。结果2组人群TNF-α启动子区-238A/G、-308A/G位点基因型及等位基因分布频率差异无统计学意义(P0.05);两位点各种单倍型在2组间分布差异无统计学意义(P0.05)。结论TNF-α启动子区-238、-308位点基因多态性与中国汉族人群肺结核病易感性未见关联。     

HBeAg阳性慢性乙型肝炎患者肿瘤坏死因子α基因启动子区-238和-308位点基因多态性分析

目的探讨HBeAg阳性慢性乙型肝炎(CHB)患者肿瘤坏死因子α(TNF-α)基因启动子区-238和-308位点基因多态性及其与血清TNF-α水平的关系。方法对203例HBeAg阳性CHB患者,采用聚合酶链反应-限制性片段长度多态性分析法检测TNF-α-238和-308位点基因多态性;采用ELISA法测定血清TNF-α水平。结果 TNF-α-238G/G、G/A基因型频率分别为84.7%和15.3%,-308G/G、G/A、A/A基因型频率分别为76.8%、22.7%和0.5%;TNF-α-238G/A基因型患者血清TNF-α水平低于G/G基因型(201.2±36.3pg/ml对215.7±34.7pg/ml,x2=4.355,P=0.037),-308G/A基因型TNF-α水平高于G/G基因型(234.6±37.5pg/ml对207.4±32.3pg/ml,x2=14.653,P0.001)。结论 TNF-α-238G/G或-308G/A基因型患者血清TNF-α水平相对较高。     

白细胞介素-1β和干扰素-γ基因单核苷酸多态性与溃疡性结肠炎遗传易患性研究

目的探讨白细胞介素-1β(IL-1β)和干扰素-γ(IFN-γ)基因单核苷酸多态性与溃疡性结肠炎(UC)遗传易患性的关系。方法应用聚合酶链反应顺序特异性引物法(PCR-SSP),检测2005年5月至2006年8月在哈尔滨医科大学附属第一医院就诊的56例UC患者(UC组)和44名同期体检健康者(对照组)的IL-1β( 3962T/C位点)和IFN-γ( 874A/T位点)基因单核苷酸多态性,分析2组基因型频率和等位基因频率分布特点。结果UC组IL-1β 3962位点CT杂合子基因型的频率及T等位基因频率明显高于对照组,差异有显著性意义(P<0.01,P<0.05)。IL-1β 3962位点各基因型在UC不同发病部位之间的分布,差异无显著性意义(P>0.05)。IFN-γ基因 874位点各基因型的频率和等位基因的频率在2组中的分布差异无显著性意义(P>0.05)。结论IL-1β 3962位点CT基因型频率及T等位基因频率增高可能与UC遗传易患性有关,但与UC发病部位无关。IFN-γ基因 874位点的多态性与UC遗传易患性无关。     

肿瘤坏死因子-α-863位点基因多态性与心绞痛的相关性研究

目的了解湖北地区汉族人群心绞痛患者肿瘤坏死因子-α(TNF-α)-863位点基因型的分布特点.方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测78例心绞痛患者和115例正常人的TNF-α基因型.结果 TNF-α-863位点基因型CC、CA+AA频率在患者组和对照组分别为80.8%、19.2%和62.6%、37.4%;等位基因C、A频率在患者组和对照组分别为89.7%、10.3%和80.4%、19.6%.两组基因型和等位基因频率比较均有显著性差异(P＜0.05).结论 TNF-α-863位点基因多态性与心绞痛有相关性,C等位基因可能是心绞痛的危险因素之一.     

肿瘤坏死因子α-308位点基因多态性与脑血管病的关系

目的:探讨肿瘤坏死因子α-308(TNF-α-308)位点基因多态性与脑血管病(CVD)的关系。方法 :应用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP),检测113例CVD患者的TNF-α-308基因型,并与100名同龄健康对照组比较。结果 :CVD组TNF-α-308位点GA、AA基因型频率明显高于对照组(P<0.01);CVD组TNF-α-308A等位基因频率也明显高于对照组(P<0.01)。结论 :TNF-α-308位点基因多态性与CVD的发病有一定相关性,TNF-α-308A等位基因可能是CVD的一种遗传易患因子。     

Sternal site of sarcoidosis

Sarcoidosis is seldom revealed by bone lesions since these are almost exclusively seen in the chronic forms of an already diagnosed disease. We report a case of sarcoidosis where sternal lesions were the first to appear. The diagnosis was suggested by radiological findings and confirmed by the presence of other manifestations of sarcoidosis, notably lymph node involvement. Pain and functional impairment were such that we had recourse to corticosteroid therapy.     

H+/site, charge/site, and ATP/site ratios in mitochondrial electron transport

H(+)/site, charge/site, and ATP/site ratios have been determined at coupling sites I, II, and III. Three e(-) donors have been used for coupling site III: ferrocyanide, ascorbate + tetramethyl-p-phenylenediamine (TMPD), and succinate + TMPD. The H(+)/site ratios are 4.0 with ferrocyanide and 6.0 with succinate + TMPD (at pH <7.0); the charge/site ratios are 6.0 with ferrocyanide and with succinate + TMPD (at pH <7.0) and 4.0 with ascorbate + TMPD; the ATP/site ratio is 1.34 with ascorbate + ferrocyanide. These ratios have been obtained in the presence of amounts of antimycin A that provide full inhibition of site II. For coupling sites I and II, ferricyanide has been used as e(-) acceptor and succinate or NAD-linked substrates as e(-) donors. The H(+)/site ratios are 4.0 at sites I and II; the charge/site ratios are 4.0 at site I and 2.0 at site II; the ATP/site ratios are 1.0 at site I and 0.5 at site II. Two major factors affect the stoichiometries: (i) dimension of [unk](H) and (ii) supply of H(+) from the matrix. There is a correlation between collapse of [unk](H) and increase of H(+)/site and charge/site ratios. This indicates that approximation of the phenomenologic stoichiometry of the H(+) pump is obtained when flow ratios are measured at level flow. That charge/site and ATP/site ratios increase when ferrocyanide is e(-) donor and decrease when ferricyanide is e(-) acceptor is attributed to the localization of the redox couple. This leads to separation of 1 charge/e(-) when ferrocyanide is e(-) donor and to consumption of 1 charge/e(-) when ferricyanide is e(-) acceptor. To account for an extrusion of H(+) in excess of that predicted by the loop model, it is proposed that each coupling site contains a channel acting as a H(+) pump.     

Surgical site infections

Surgical site infections (SSIs) lead to adverse patient outcomes, including prolonged hospitalization and death. Wound contamination occurs with each incision, but proven strategies exist to decrease the risk of SSIs. In particular, improved adherence to evidence-based preventative measures related to appropriate antimicrobial prophylaxis can decrease the rate of SSI. Aggressive surgical debridement and effective antimicrobial therapy are needed to optimize the treatment of SSIs.     

Unusual site thrombosis

Venous thromboses in unusual sites are rare and heterogenous manifestations of venous thromboembolism (VTE). These uncommon diseases are each characterized by peculiar pathophysiological and clinical features, mainly reflecting the different characteristics of the organs of origin. Moreover, the relative frequency and importance of risk factors associated with their development may be different compared to those of the classical manifestations of VTE, such as deep vein thrombosis of the lower limbs or pulmonary embolism. The need for anticoagulant therapy for unusual site thrombosis (UST) is generally accepted. However, several questions remain unanswered: what is the best therapeutic agent, is it safe, and for how long should it be used? These questions persist mainly due to the low level of available evidence given the rarity of these diseases. The short- and long-term prognoses, and in particular the risk of recurrence and mortality, are quite heterogenous among the different manifestations of UST and even within each of them, depending mainly on the predisposing causes.     

Puncture site hemostasis

The Angio-Seal hemostatic puncture closure device was designed to provide diagnostic as well as post-complex angioplasty hemostasis in coronary and peripheral procedures without compromising blood flow to the distal extremity: 1) by allowing immediate removal of the introducer sheath, and 2) by providing puncture hemostasis without the need for manual pressure. The Angio-Seal is currently in clinical trials and is being evaluated by the FDA. We are hopeful that its future use will reduce the cost of medicine while greatly enhancing the quality of patient care as initial clinical trial results indicate.     

Neoplasms of unknown primary site

Neoplasms of unknown primary site are tumor diseases, which are diagnosed by the pathologic studies of one of their metastases. The treatment of neoplasms of unknown primary site is not totally established, except in a few situations with specific therapeutical implications, and a better prognosis. The usual treatment of neoplasms of unknown primary site is the empirical chemotherapy with taxanes (paclitaxel or docetaxel) and platines (cisplatin or carboplatin)-based regimens, with different results in the trials.     

Cancer of unknown primary site

The Journal of Cancer Research and Clinical Oncology publishes in loose succession Editorials and Guest editorials on current and/or controversial problems in experimental and clinical oncology. These contributions represent exclusively the personal opinion of the author the editors.     

Cancer of unknown primary site

Cancer of unknown primary site (CUP) is a well recognised clinical disorder, accounting for 3-5% of all malignant epithelial tumours. CUP is clinically characterised as an aggressive disease with early dissemination. Diagnostic approaches to identify the primary site include detailed histopathological examination with specific immunohistochemistry and radiological assessment. Gene-profiling microarray diagnosis has high sensitivity, but further prospective study is necessary to establish whether patients' outcomes are improved by its clinical use. Metastatic adenocarcinoma is the most common CUP histopathology (80%). CUP patients are divided into subsets of favourable (20%) and unfavourable (80%) prognosis. Favourable subsets are mostly given locoregional treatment or systemic platinum-based chemotherapy. Responses and survival are similar to those of patients with relevant known primary tumours. Patients in unfavourable subsets are treated with empirical chemotherapy based on combination regimens of platinum or taxane, but responses and survival are generally poor.