血管紧张素转换酶基因I/D多态性及醛固酮合成酶基因T-344C多态性与蒙古族人群原发性高血压的相关性研究

目的研究血管紧张素转换酶（ACE）基因及醛固酮合成酶（CYP11B2）基因多态性与蒙古族原发性高血压（EH）的关系。方法应用PCR-RFLP技术检测98例EH患者与正常对照组108名健康受试者ACE基因第16内含子I/D多态性及CYP11B2基因T-344C多态性。结果①蒙古族人ACE基因I/D位点II、ID、DD基因型频率在EH组和正常对照组分别为0.44、0.38、0.18和0.42、0.32、0.26，差异无显著性（χ^2=1.693，P=0.192）；②I、D等位基因的频率分别为0.63、0.37和0.58、0.42，差异无显著性（χ^2=0.808，P=0.363）；③CYP11B2T-344C位点TT、TC、CC基因型的频率在EH组和正常对照组分别为0.46、0.44、0.09和0.37、0.54、0.09，两组之间差异无显著性（χ^2=0.005，P=0.945）。④T、C等位基因频率分别为0.69、0.31和0.64、0.36，差异无显著性（χ^2=0.928，P=0.335）；⑤同时分析CYP11B2基因T-344C基因型与ACE基因I/D基因型在蒙古族人群患EH方面无协同作用。结论ACE基因I/D位点及CYP11B2基因T-344C位点与蒙古族人群患EH无相关性。     

MTHFR基因多态性与深静脉血栓形成及血瘀积分的相关性分析

目的探讨福建地区亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与深静脉血栓(DVT)形成及DVT血瘀证候表型的相关性。方法通过病例对照试验纳入福建汉族DVT病人168例,同时选取健康体检者159名作为对照组,收集基线资料,采用聚合酶链式反应(PCR)、直接测序法检测两组MTHFR基因C677T突变位点观察CC、CT、TT基因型频率及等位基因频率,并评价DVT病人血瘀证候积分。结果两组MTHFR基因C677T多态性CC、CT和TT基因型频率分布比较,差异有统计学意义(χ^2=9.694,P=0.008),进一步χ^2分割检验显示DVT组CT+TT频率(44.05%)明显高于对照组(29.56%),差异有统计学意义(χ^2=7.355,P=0.007)。多因素二项Logistic回归分析,调整多种混杂因素后,MTHFR基因677CT+TT型(OR=1.798,95%CI:1.082~2.988,P=0.024)、血同型半胱氨酸(Hcy)(OR=1.059,95%CI:1.004~1.118,P=0.036)是DVT的危险因素。DVT病人携带MTHFR677T等位基因的中度、重度血瘀证人数构成比高于CC型,差异有统计学意义(χ^2=7.792,P=0.020);TT型血Hcy水平均高于CT型及CC型,差异均有统计学意义(Z=-2.219,P=0.026;Z=-3.367,P=0.001);轻度血瘀证血Hcy水平低于中度和重度血瘀证,差异均有统计学意义(Z=-3.571,P<0.001)。血瘀证候积分与血Hcy水平呈正相关(r=0.256,P=0.001)。结论携带MTHFR基因677CT/TT基因型及高水平Hcy是福建地区DVT形成的危险因素;MTHFR基因677CT/TT基因型可能是DVT血瘀证形成的易感因素之一,高Hcy可能与中医血瘀证形成相关。     

新疆哈萨克族高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性.方法应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性.结果哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0.74,0.24,0.02和0.81,0.18,0.01,G和T等位基因分布频率分别为0.86,0.14和0.90,0.10,符合Hardy-Weinberg平衡.群体相关分析结果表明eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(χ2=3.580,P=0.058);基因型频率之间差异无显著性(χ2=4.037,P=0.133).然而男性EH组G等位基因频率(0.90)高于NT组(0.86);T等位基因频率(0.06)低于NT组(0.14).结论 eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关.     

血浆同型半胱氨酸及亚甲基四氢叶酸还原酶基因多态性与广西玉林地区汉族原发性高血压患者的关系

目的:探讨血浆同型半胱氨酸(Hcy)水平及其代谢酶 N 5,10-亚甲基四氢叶酸还原酶( MTHFR ) C677T 基因多态性与广西玉林地区汉族原发性高血压(EH)的关系。方法: 纳入400例玉林汉族人,EH组200例,健康体检正常血压者(NT 组)作为对照组200例,抽取外周静脉血用全自动生化分析仪检测 Hcy及其他生化指标的水平,同时提取 DNA,采用聚合酶链反应-限制性片段长度多态性(PCR- RFLP)的方法检测两组 MTHFR C677T 基因型。结果: 两组Hcy水平比较有统计学意义( P<0.05 )。CC、CT、TT 三种基因型频率表达在EH 组和 NT 组中分别为 27%、49.5%、23.5% 和 40%、45.5%、14.5% , CT 突变频率高;EH 组中 C 和 T 等位基因为 51.75 % 和 48.25%,NT 组中为62.75% 和 37.25%。两组三种基因型总体频率及等位基因频率分布差异有统计学意义(P<0.05)。两组TT型及T等位基因频率比较有统计学意义(P<0.05)。EH 组中TT型Hcy水平高于CC型和CT型。logistic回归显示,CT TT基因型、Hcy可能为EH的危险因素。结论: Hcy 水平升高及MTHFR C677T基因多态性可能与广西玉林地区汉族EH的发生有关,T 等位基因可能为该人群易感基因,二者可能对该地区EH的预测、诊疗有一定的临床价值。     

宁夏回族冠心病患者亚甲基四氢叶酸还原酶基因多态性的研究

目的:研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性与冠心病的关系.方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析检测224例宁夏回族人群(冠心病组107例,对照组117例)MTHFR基因型及等位基因频率.结果:回族冠心病组和对照组MTHFR C677T CC,CT,TT 3种基因型分布(χ2=5.523,P=0.063)和等位基因频率分布(χ2=0.000,P=0.984)差异无统计学意义(P>0.05).结论:MTHFR基因多态性与冠心病无相关.     

新疆哈萨克族高血压患者内皮型一氧化氮合酶基因G894T多态性研究

目的 探讨哈萨克族人群内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压关联性。方法 应用聚合酶链反应、限制性内切酶方法检测了新疆巴里坤县203例哈萨克族高血压病患者和190例正常人群eNOS基因G894T多态性。结果 哈萨克族正常人群及高血压患者的eNOS基因G894T多态GG、GT、TT基因型频率分布分别为0．74，0．24，0．02和0．81，0．18，0．01，G和T等位基因分布频率分别为0.86，0．14和0．90，0．10，符合Hardy—Weinberg平衡。群体相关分析结果表明：eNOS基因的G及T等位基因分布在高血压病组(EH)及正常血压组(NT)差异无显著性(χ^2=3．580，P=0．058)；基因型频率之间差异无显著性(χ^2=4．037，P=0．133)。然而男性EH组G等位基因频率(0．90)高于NT组(0．86)；T等位基因频率(0．06)低于NT组(0．14)。结论 eNOS基因G894T多态性可能与新疆巴里坤哈萨克族男性高血压有关。     

亚甲基四氢叶酸还原酶基因多态性与原发性高血压伴周围动脉闭塞性疾病的易感性

目的　探讨北京万寿路社区老年人群亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase ,MTHFR)基因多态性与原发性高血压 (essentialhypertension ,EH)及EH伴周围动脉闭塞性疾病 (peripheralarterialocclusivedisease ,PAOD)的易感性。方法　用聚合酶链反应 限制性片段长度多态性技术 ,检测了 10 0例健康老年人 (NC组 )、10 0例老年EH(EH组 )及 5 9例老年EH伴PAOD患者 (EH PAOD组 )的MTHFR基因多态性。结果　MTHFR等位基因呈多态性。NC组 3种基因型频率为 :CC ,31.0 % ;CT ,5 0 .0 % ;TT ,19.0 %。EH组分别为 :CC ,2 9.0 % ;CT ,4 5 .0 % ;TT ,2 6 .0 %。EH PAOD组分别为 :CC ,15 .9% ;CT ,35 .5 % ;TT ,4 8.6 %。 3组MTHFR基因的C6 77T单核苷酸突变中T突变位点的频率分别为 4 4 .0 %、4 8.5 %、6 4 .4 %。EH PAOD组与NC组、EH PAOD组与EH组比较TT基因型频率和T等位基因频率均呈显著性差异。结论　MTHFR基因C6 77T单核苷酸突变是老年EH伴PAOD的危险因素之一 ,但可能与老年EH无关。     

低密度脂蛋白受体基因多态性与高血压伴肥胖的关系

目的 探讨低密度脂蛋白受体(LDLR)基因HincⅡ多态性与原发性高血压(EH)伴肥胖的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法测定86例EH患者和120例正常对照者的LDLR基因型.结果 LDLR分CC、CT、TT 3种基因型.EH组C等位基因频率高于对照组(P＜0.05).EH组具有C等位基因者(CC基因型+CT基因型)体重指数(BMI)及腰围(WC)高于TT基因型者(P＜0.05).结论 LDLR基因多态性可能与EH伴肥胖相关.     

纤维蛋白原-β148C/T基因多态性与冠心病的关系

目的调查冠心病患者纤维蛋白原（Fg）β基因启动区-148C/T基因多态性频率分布及与血浆Fg水平的关系。方法采用聚合酶链反应限制性片段长度多态性（PCR-RFLP）方法检测236例冠心病患者（冠心病组）和164例健康体检者（对照组）的Fgβ-148C/T基因多态性频率分布,并使用血凝分析仪测定血浆Fg水平。结果冠心病组和对照组组内-148C/T基因分布频率符合Hardy-W e inberg遗传平衡定律,两组均为遗传平衡群体（P〉0.05）;冠心病组Fgβ-148C/T基因多态性与对照组比较有统计学差异（χ^=6.411,P〈0.05）;冠心病组血浆Fg水平与对照组比有统计学差异（t=4.138,P〈0.01）;冠心病组CT＋TT基因型血浆Fg水平高于对照组CT＋TT（t=2.889,P〈0.05）。冠心病组内CT＋TT基因型血浆Fg水平高于CC型（t=3.066,P〈0.05）,对照组内CT＋TT基因型血浆Fg水平高于CC型（t=2.676,P〈0.05）。结论在河南汉族人群中Fgβ-148C/T存在基因多态性并与冠心病存在相关性,T等位基因可能是冠心病发生的一种危险因素。     

连南瑶族人群H型高血压与亚甲基四氢叶酸还原酶基因C677T多态性的关系

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与连南瑶族自治县瑶族人群H型高血压的相关性,以期为该地区H型高血压的预防和治疗提供理论依据。方法选取2018年1月至2019年6月在连南瑶族自治县人民医院门诊及住院患者以及体检中心健康自愿者,且以三代均居住在连南瑶族自治县境内瑶族人群共363人为研究对象,根据血压及血浆同型半胱氨酸(Hcy)水平,将其分为正常对照组(124人)、非H型高血压组(136人)、H型高血压组(103例)。采用聚合酶链反应-限制性酶切片断长度多态性(PCR-RFLP)法对正常对照组、非H型高血压组、H型高血压组人群进行MTHFR基因C677T多态性检测,对H型高血压发生相关危险因素进行Logistic回归分析。结果经PCR-RFLP检测发现,3组MTHFR C677T隐性模型CC+CT、TT基因型分布频率比较差异有统计学意义(P0.05)。H型高血压组MTHFR C677T的CC、CT和TT基因型Hcy水平分别为(15.52±2.47)、(18.24±2.61)和(21.06±2.87)μmol/L,差异有统计学意义(F=39.400,P0.001),其中TT基因型Hcy含量高于CC、CT基因型,CT基因型Hcy含量高于CC基因型(P0.05)。Logistic回归分析结果显示,MTHFR C677T TT基因型是连南瑶族自治县瑶族人群H型高血压发病的危险因素(OR 2.210、95%CI 1.103～4.428)。结论连南瑶族自治县瑶族人群MTHFR C677T TT基因型是发生H型高血压的危险因素。     

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.     

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.     

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.     

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.