内皮一氧化氮合酶基因5''''-侧翼区T-786→C突变与2型糖尿病并发冠心病的关系

目的研究血管内皮一氧化氮合酶(eNOS)基因5'-侧翼区T-786→C突变与2型糖尿病(T2DM)并发冠心病(CHD)的关系.方法选择T2DM患者186例,其中65例并发CHD;选择正常人63例作为对照.采用PCR/ASO杂交技术检测T-786→C突变. 结果与对照组相比,T2DM伴CHD组TC基因型及C等位基因频率明显增高(P＜0.05).与T2DM不伴CHD组相比,T2DM伴CHD组C等位基因频率明显增高(P＜0.05).在T2DM患者中,与TT组比较,TC组HbA1 c明显增高.多元logistic回归分析显示,年龄、血压、病程、LDL-C、脂蛋白(a)、HbA1c、C等位基因与CHD呈正相关(P＜0.01).结论eNOS基因5'-侧翼区T-786→C突变增高T2DM患者并发CHD的危险性.     

冠心病患者载脂蛋白E基因多态性研究

目的 :探讨载脂蛋白 E(apo E)基因多态性与早发冠心病 (CHD)患者的关系以及对中国人血脂水平的影响。　　方法 :选择 6 8例年龄≤ 5 5岁的 CHD患者为 CHD1 组、136例年龄≥ 6 5岁的 CHD患者为 CHD2 组及 136例健康对照者为对照组 ,测定空腹血清甘油三酯 (TG)、总胆固醇 (TC)和高密度脂蛋白胆固醇 (HDL- C)水平 ;应用聚合酶链反应 ,Hha I内切酶消化及聚丙烯胺疑胶电泳的方法确定 apo E基因多态性。　　结果 :Apo E3/ 4基因型频率和 E4等位基因频率在 CHD1 组明显高于 CHD2 组和对照组 (P<0 .0 1) ,CHD2 组和对照组无差别。 CHD1 组与对照组血脂水平无差别 ,而 CHD2 组的 TC、低密度脂蛋白 (L DL - C)水平明显高于 CHD1 组和对照组 (P<0 .0 1)。不同的 apo E基因型其 TC、L DL- C浓度存在显著性差异。　　结论 :Apo E基因多态性是影响 TC、L DL- C水平的重要遗传因素之一 ;Apo E4与 CHD有明显的相关性 ,即 apo E4可能是早发 CHD独立的易患遗传危险因素。     

内皮一氧化氮合酶基因5′-侧翼区T^-786→C突变与2型糖尿病并发冠心病的关系

目的研究血管内皮一氧化氮合酶（eNOS）基因5′-侧翼区T^-786→C突变与2型糖尿病（T2DM）并发冠心病（CHD）的关系。方法选择T2DM患者186例，其中65例并发CHD；选择正常人63例作为对照。采用PCR／ASO杂交技术检测T^-786→C突变。结果与对照组相比，T2DM伴CHD组TC基因型及C等位基因频率明显增高（P〈0．05）。与T2DM不伴CHD组相比，T2DM伴CHD组C等位基因频率明显增高（P〈0．05）。在T2DM患者中，与TT组比较，TC组HbA1C明显增高。多元logistic回归分析显示，年龄、血压、病程、LDL-C、脂蛋白（a）、HbA1C、C等位基因与CHD呈正相关（P〈0．01）。结论eNOS基因5′-侧翼区T^-786→C突变增高T2DM患者并发CHD的危险性。     

冠心病患者E-选择素血清水平及其G98T、S128R基因多态性研究

目的　研究中国汉族人群E 选择素 (E selectin)基因第 2外显子G98T和第 4外显子S12 8R多态性与冠心病 (CHD)的相关性 ,以及对血清E selectin水平的影响。方法　采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术 ,检测 2 38例CHD患者和 199例健康人作对照者的E selectin基因多态性 ,同时采用酶联免疫吸附试验 (ELISA)检测CHD患者和对照者血清E selectin水平。结果　E selectin基因S12 8R基因型频率和等位基因频率在CHD组和对照组比较差异有显著性(P <0 0 5 ) ,基因型频率的相对风险分析发现 ,SR基因型携带者患冠心病的风险是SS基因型的 2 16 2倍 (OR =2 16 2 ,95 %CI:1 0 73～ 4 35 9) ,SR基因型携带者的E selectin血清水平显著高于SS基因型(4 2 9± 8 1比 35 7± 7 7,P <0 0 1)。E selectinG98T各基因型分布在CHD组和对照组之间比较差异无显著性 (P >0 0 5 ) ,但在心肌梗死组与心绞痛组间比较差异有显著性 (P <0 0 5 )。结论　E selectinS12 8R基因多态性与冠心病的发病有关联 ,并可影响血清E selectin水平 ,R等位基因可能是CHD发病的遗传易感基因 ;E selectin基因G98T多态性在冠心病发病中可能不起直接重要作用。     

TRIB3基因rs2295490多态性与2型糖尿病合并冠心病的相关性

目的探讨TRIB3基因rs2295490多态性与2型糖尿病(T2DM)和T2DM合并冠心病(CHD)的关系。方法用基因测序方法对126例健康对照组、101例T2DM组、94例T2DM合并CHD组TRIB3基因rs2295490多态性进行分型,同时对其生化指标如空腹血糖(FPG)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、糖化血红蛋白(Hb A1c)等进行检测。结果 3组间TRIB3基因rs2295490多态性基因型和等位基因分布频率差异无统计学意义(P0.05)。健康对照组中AA基因型TG水平明显低于AG+GG基因型(P0.05);T2DM组中AA基因型TC与TG水平明显低于AG+GG基因型(P0.05);T2DM+CHD组AA基因型TC、TG、LDL-C水平明显低于AG+GG基因型(P0.05),AA基因型HDL-C水平明显高于AG+GG基因型(P0.05)。结论 TRIB3基因rs2295490多态性与T2DM合并CHD无明显关联,但可能与T2DM及T2DM并发CHD患者的血脂异常有关。     

原发性高血压并发脑梗死患者血管紧张素转换酶和血管紧张素受体基因多态性的研究

目的 :探讨血管紧张素转换酶 (ACE)基因及血管紧张素Ⅱ 1型受体 (AT1R)基因A116 6 /C多态性与原发性高血压 (EH)及其并发脑梗死的关系。方法 :应用聚合酶链反应及PCR加酶解方法检测 15 0例健康者 (对照组 )及 15 2例EH无并发症患者 (EH组 )和 80例EH并发脑梗死患者 (EH并发脑梗死组 )ACEI/D基因多态性的ACE及AT1RA116 6C突变。结果 :EH组及EH并发脑梗死组的ACE基因的D等位基因频率为 5 0 %及 4 8% ,明显高于对照组的 33% (P <0 .0 5 )。AT1R基因的C等位基因频率在 3组之间差异无显著性意义 (P >0 .0 5 )。结论 :ACE基因可能是EH及EH并发脑梗死的重要遗传因素 ,而AT1R基因与EH发病及EH患者是否易患脑梗死无关     

血管紧张素原、血管紧张素Ⅱ的Ⅰ型受体基因多态性及其与原发性高血压的关系

目的 :观察血管紧张素原 (AGT) M2 35 T、血管紧张素 的 型受体 (AT1R) A116 6 C基因多态性在正常人群及原发性高血压 (EH)患者中的分布。方法 :采用聚合酶链反应 (PCR)及限制性片段长度多态性分析(RFL P)方法。结果 :正常人群 (对照组 ,80例 )及 EH(95例 )患者 AGT M2 35 T的频率分别为 0 .813、0 .832 ;AT1RA116 6 C频率分别为 0 .0 5 0、0 .0 5 3。两种基因多态性在 EH患者与对照组间无显著性差异 ,但 AGT M2 35 T在 <6 0岁的 EH患者中频率显著高于≥ 6 0岁的患者和 <6 0岁对照组 ,而 AT1R A116 6 C无此差异。结论 :两种基因多态性因人种不同而不同。 AGT M2 35 T与 EH早期发病有关 ,而 AT1R A116 6 C对于 EH的发生无重要作用     

NOS1基因多态性与湖北汉族人变应性哮喘易感性的关系

目的　研究一氧化氮合成酶结构式基因 (NOS1)第 2 9外显子翻译终止位点下游 2 76 bp处 C/ T(C5 2 6 6 T)位点多态性与湖北汉族人变应性哮喘易感性及血浆 Ig E水平的关系。方法　用聚合酶链反应和限制片段长度多态性 (PCR- RFL P)方法对湖北汉族 134例变应性哮喘患者 (哮喘组 )及 90例无血缘关系的汉族健康人(对照组 )进行 NOS1基因 C5 2 6 6 T位点多态性分析 ,用免疫发光法测定血浆总 Ig E水平。结果　哮喘组 NOS1基因 C5 2 6 6 T位点 TT基因型频率与对照组相比差异显著 (P=0 .0 0 9) ,T等位基因频率与对照组相比无显著性差异 (P>0 .0 5 )。哮喘组 TT基因型者血浆总 Ig E显著高于 CC和 CT基因型者 (P<0 .0 5 )。结论　 NOS1基因C5 2 6 6 T位点 TT基因型与湖北汉族人哮喘易感性和高血浆总 Ig E水平均相关。     

1型糖尿病患者及其一级亲属趋化因子受体CCR2和CCR5的基因多态性研究

目的　探讨趋化因子受体CCR2、CCR5基因多态性与 1型糖尿病 (T1DM)及其一级亲属之间的关系 ,并与T2DM及非DM对照进行比较。　方法　利用PCR方法检测 48例T1DM及其 5 7名一级亲属CCR5的基因多态性 ,利用BsaBI限制性内切酶的PCR RFLP方法检测T1DM及其一级亲属的CCR2基因多态性。　结果　T1DM组、T1DM一级亲属组、T2DM组分别与非DM对照组比较 ,CCR5Δ32突变的等位基因频率和基因型频率差异无显著意义。T1DM组CCR2 6 4I突变基因型及等位基因频率均高于非DM对照组 (P <0 .0 1) ;T2DM组CCR2 6 4I突变基因型及等位基因频率均低于T1DM组 (P <0 .0 1)。　结论　CCR5Δ32突变与T1DM无显著相关性。CCR2 6 4I突变与T1DM发病显著相关 ,CCR2基因可能是T1DM一个新的候选基因。     

冠心病患者载脂蛋白E基因型与血脂、脂蛋白水平的相关性

目的 :探讨冠心病 (CHD)患者载脂蛋白E(apoE)基因型与血脂、脂蛋白水平的相关性。 方法 :应用聚合酶链反应 限制性片段长度多态性法 (PCR RFLP) ,检测 119例CHD患者和 112例正常人 (对照组 )的apoE基因型 ;按常规方法测定血脂及脂蛋白水平。结果 :CHD组及对照组共检出 6种基因型 ,分别为 :ε2 /2、ε2 /3、ε3/3、ε3/4、ε4/4、ε2 /4 ;CHD组ε3/4基因型及ε4等位基因频率均显著高于对照组 (分别为P <0 .0 5 ,P <0 .0 1) ;CHD组ε2 /3、ε3/3、ε3/4基因型之间胆固醇 (TC)、低密度脂蛋白胆固醇 (LDL C)水平差异有显著性意义 (P <0 .0 5 )。结论 :apoE3/4基因型明显升高CHD患者TC、LDL C水平 ;apoE基因多态性可能通过影响血脂水平而影响CHD的发生     

The immunoneuroendocrine role of melatonin

Abstract: A tight, physiological link between the pineal gland and the immune system is emerging from a series of experimental studies. This link might reflect the evolutionary connection between self-recognition and reproduction. Pinealectomy or other experimental methods which inhibit melatonin synthesis and secretion induce a state of immunodepression which is counteracted by melatonin. In general, melatonin seems to have an immunoenhancing effect that is particularly apparent in immunodepressive states. The negative effect of acute stress or immunosuppressive pharmacological treatments on various immune parameters are counteracted by melatonin. It seems important to note that one of the main targets of melatonin is the thymus, i.e., the central organ of the immune system. The clinical use of melatonin as an immunotherapeutic agent seems promising in primary and secondary immunodeficiencies as well as in cancer immunotherapy. The immunoenhancing action of melatonin seems to be mediated by T-helper cell-derived opioid peptides as well as by lymphokines and, perhaps, by pituitary hormones. Melatonin-induced-immuno-opioids (MHO) and lymphokines imply the presence of specific binding sites or melatonin receptors on cells of the immune system. On the other hand, lymphokines such as -γ-interferon and interleukin-2 as well as thymic hormones can modulate the synthesis of melatonin in the pineal gland. The pineal gland might thus be viewed as the crux of a sophisticated immunoneuroendocrine network which functions as an unconscious, diffuse sensory organ.     

Changes in connexin43, the gap junction protein of astrocytes, during development of the rat pineal gland

Abstract: The abundance of gap junctions between rat pineal astrocytes formed by connexin43 (Cx43) was studied during development. Levels and distribution of Cx43 were measured by immunoblotting and indirect immunofluorescence, respectively. The amount of Cx43 in cells located within the gland was low until about the 7th postnatal day and increased to adult values between the 14th and 21st days postpartum. Although astrocytes, recognized by their vimentin immunoreactivity, were scarce before birth, they were abundant by the 7th postnatal day suggesting that the low levels of Cx43 found at this age corresponded to a low expression of this protein. Localization of the immunoreactivity to Cx43 and vimentin showed a close correlation, indicating that mature or immature pineal astrocytes form gap junctions made of Cx43. Since Cx43 levels attained their adult values at about the time the innervation and the functional state of the gland reached maturity (2–3 weeks after birth), it is proposed that astrocyte gap junctions are involved in the function of the adult rat pineal gland.     

Conservative management of perforated duodenal diverticulum： A case report and review of the literature

Duodenal diverticula are a relatively common condition. They are asymptomatic, unless they become complicated, with perforation being the rarest but most severe complication. Surgical treatment is the most frequently performed approach. We report the case of a patient with a perforated duodenal diverticulum, which was diagnosed early and treated conservatively with antibiotics and percutaneous drainage of secondary retroperitoneal abscesses. We suggest this method could be an acceptable option for the management of similar cases, provided that the patient is in good general condition and without septic signs.     

Response of rat pineal melatonin to calcium, magnesium, and lithium is circadian stage dependent

Abstract: Herein we documented the response of pineal melatonin production to electrolytes known to be effective on pineal function in view of a possible circadian stage dependence. We studied the release of melatonin by perifused rat pineal glands at 2 different circadian stages corresponding to the middle of the light and dark periods, i.e., respectively, 7 and 19 HALO (Hours After Light Onset, L:D = 12:12). The initial efflux rates were, as expected, much higher in the perifusates of glands removed from rats sacrificed during the dark phase than of those removed during the light phase. After 3 hr of perifusion, melatonin release reached similar levels which were found constant up to the 8th hr of perifusion, whatever the circadian stage. Perifusion of the glands with physiological concentrations for the rat of calcium (5.2 mmol/1) and magnesium (1.34 mmol/1) resulted in a stimulatory effect on the pineal glands removed from rats sacrificed in the middle of the dark period (19 HALO), whereas no effects were observed on the pineal glands removed from rats sacrificed during the light (7 HALO). Lithium (0.28 and 0.55 mmol/1) was ineffective on melatonin release in pineal glands removed 7 and 19 HALO. Our results show differences in the initial efflux rates of melatonin and in the response of perifused pineal glands to calcium and magnesium according to the circadian stage.     

Presence of immunoreactive growth hormone and prolactin in the ovine pineal gland

Abstract: The use of antisera raised against bovine growth hormone (GH) and ovine prolactin (PRL) enabled the detection of related immunoreactive (ir) sequences of proteins in ovine pineal tissue. The isolation of PRL-like ir-material was accomplished using a 0.25 M ammonium sulphate (pH 5.5) extraction followed by ethanol precipitation, whereas the resulting 2.0 M ammonium sulphate (pH 7.0) precipitate contained a GH-like immunoreactivity. Gel chromatography of the GH-like immunoreactivity (Sephadex G-100) indicated the presence of several GH-like fragments ranging in the M_r range of 7,000 to 55,000. Analyses of the PRL-like ir-material found in pineal tissue on HPLC using a TSK 545-DEAE column led to the resolution into a single peak of immunoreactivity. A single peak of activity was also observed following chromatofocusing and hydrophobic interaction chromatography of the ir-peak from the TSK 545-DEAE column. The PRL-like ir-material inhibited the binding of [¹²⁵I]ovine PRL-S14 to anti-ovine PRL antibodies without showing an affinity for binding to anti-rat PRL or anti-bovine GH antibodies. Scatchard analysis of the binding of pineal PRL-like ir-material and pituitary ovine PRL-S14 to liver membranes from day-20 pregnant rats revealed similar affinity constants (K_a of 4.7 ± 0.2 × 10⁹ M^-1). In addition, the replication of Nb 2 Node rat lymphoma cells was stimulated by pineal PRL-like ir-material, an effect known to be specific for lactogenic hormones. The pineal PRL-like immunoreactivity appeared on sodium dodecyl sulfate polyacrylamide gels as a single major band of M_r 24,000. The functional status of PRL-and GH-like ir-material in the ovine pineal remains to be determined, but evidence is presented that the overall protein synthesis rate of the rat pineal responded to circulating concentrations of PRL.     

Microbiology of human immunodeficiency virus anorectal disease

PURPOSE: Individuals who are seropositive for the human immunodeficiency virus are at high risk for opportunistic infection and anorectal disorders. Little prospective information is available regarding anorectal pathogens in these patients. METHODS: One hundred sixty-three HIV-seropositive patients presented to the colorectal clinic between 1989 and 1992. Forty-seven (29 percent) patients were thought to have an infectious process and were prospectively studied using a standardized multiculture protocol. RESULTS: Mean age was 33 (range, 19–59) years. All were male; high-risk behavior accounted for 87 percent of HIV transmissions. Presenting complaints included anorectal pain (79 percent), pus per anum (28 percent), and blood per anum (26 percent). Examination revealed perianal tenderness (60 percent), condyloma (38 percent), perianal ulcers (38 percent), and anal fissures (34 percent). Sixty-six sets of cultures were performed; 28 patients had one set, 15 had two sets, and 4 had three sets. Thirty-two of these 47 patients (68 percent) had positive cultures including herpes (50 percent), cytomegalovirus (25 percent),Neisseria gonorrhoeae (16 percent), chlamydia (16 percent), acidfast bacilli (2 percent), and others (9 percent). Six of 32 patients with positive cultures had more than one organism cultured. Sixteen (50 percent) patients with positive cultures were treated medically, 8 (25 percent) were treated surgically and 8 (25 percent) were treated with both modalities. Sixty-one procedures were performed on 17 patients for condylomata. Eighteen patients had 20 procedures for abscesses, 50 percent of whom had positive cultures for other than common bowel flora; all improved. Fourteen patients underwent 33 procedures for perianal fistulas.Mycobacterium fortuitum was cultured from one patient who required 13 procedures for abscesses and fistulas. Forty-five (96 percent) patients were followed for an average of 12.5 months ±2.9 SEM (range, 1–94 months). Symptoms were improved or resolved in 22 of 32 (69 percent) patients with positive cultures and in 11 of 13 (84 percent) with negative cultures. CONCLUSIONS: Specific pathogens may often be identified in human immunodeficiency virus-seropositive patients with anorectal disorders if aggressively sought. Although patients without specific pathogens identified may be expected to improve with planned empiric treatment, positive identification allows more directed therapy.