胰岛素受体基因多态性与高血压肾损害相关性研究

为探讨原发性高血压(EH)肾损害与胰岛索受体(INSR)基因第8外显子Nsi I酶切多态性的关系，采用生化法、多聚酶链反应(PCR)和限制性内切酶片段长度多态性分析(RFLP)等技术，检测了N2等位基因在EH肾功能正常(EH—NRF)组、EH肾损害尿毒症(EH—CRF)组及正常对照(NC)组中的表达。结果显示，Nsi I多态性与患者的年龄、体重指数(BMI）、总胆固醇(TC)及甘油三脂(TG)等无相关性，N2等位基因频率在EH-NRF组及EH—CRF组均明显高于NC组(P＜0．05、＜0．01)，且在EH—CRF组高于EH—NRF组。提示N2等位基因可能是中国人EH(特别是EH—CRF)的一个重要易感基因。     

内皮型一氧化氮合酶基因G894T多态性与东乡族原发性高血压的相关性

目的探讨东乡族人内皮型一氧化氮合酶（eNOS）基因G894T多态性与原发性高血压（EH）之间的相关性。方法应用聚合酶链反应—限制性内切酶片段长度多态分析法对甘肃临夏东乡族EH患者（EH组）和正常人群（NT组）的eNOS第7外显子894位处进行基因多态性分型,应用硝酸盐还原酶法方法检测血清一氧化氮代谢物（NOM）水平。结果eNOS基因G894T多态性符合Hardy-Weinberg平衡定律,EH组GT＋TT基因型和T等位基因频率均高于NT组（P〈0.05,〈0.01）;EH组中T等位基因携带者的收缩压、舒张压和平均动脉压均高于对应的GG基因型携带者（P〈0.05）。EH组GT＋TT基因型空腹血清NOM低于GG基因型（P〈0.05）。结论eNOS基因第7外显子G894T多态性的T等位基因与东乡族EH的发生相关联,T等位基因（298Glu→Asp）可能通过影响对应编码的eNOS活性而使T等位基因携带者NOM减少,进而参与EH发病。     

血管紧张素Ⅱ2型受体基因多态性与男性高血压及左心室肥厚的关系

目的探讨血管紧张素Ⅱ2型受体基因的单核苷酸多态性（SNP）与男性原发性高血压（EH）及左心室肥厚之间的关系。方法应用直接测序的方法在211例男性EH患者和187例男性正常对照人群中对血管紧张素Ⅱ2型受体基因作SNP分型,按心脏超声特点将男性EH患者分为左心室肥厚（LVH）组82例及无LVH组129例,评价SNP与EH及LVH的关系。结果男性EH患者A1675G位点中A等位基因频率与正常对照者相比差异有统计学意义（P〈0.05）;有无LVH患者A1675G多态性各基因型构成均无统计学意义（P〉0.05）。结论血管紧张素Ⅱ2型受体基因的A1675G单核苷酸多态性与男性EH发病相关。     

内皮型一氧化氮合酶基因G894T多态性与新疆维吾尔族原发性高血压的关联研究

目的探讨新疆维吾尔族人群内皮型一氧化氮合酶基因(endothelialnitricoxidesynthasegene,eNOS)第7外显子894G→T多态性与原发性高血压(essentialhypertension,EH)之间的关系。方法应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)对新疆地区375例EH患者(EH组)及正常血压者414例(NT组)的eNOS第7外显子894位进行基因分型,并采用生化技术测定其空腹血糖、血浆胆固醇、甘油三酯、胆红素,测定体重指数等水平。结果(1)eNOS基因第7外显子894G→T多态性符合Hardy-Weinberg平衡;GG、GT、TT基因型频率在维吾尔族EH患者及正常人群中分布分别为56.5%、28.3%、15.2%和65.9%、22.5%、11.6%,T等位基因频率分别为29.33%和22.83%,该位点各基因型频率与等位基因频率在维吾尔族高血压组和正常对照组中差异有统计学意义(P<0.05,OR=2.97,95%可信区间1.393~6.358)。(2)在EH组中GT+TT基因型者的收缩压[(171.36±22.30)mmHg,1mmHg=0.133kPa]和舒张压[(103.63±13.22)mmHg]均显著高于GG基因型者[(158.07±20.85)mmHg和(89.90±10.39)mmHg],两组比较差异有统计学意义(P<0.01)。结论eNOS基因第7外显子894G→T变异可能是中国新疆维吾尔族人群EH的一种遗传易感性指标。     

胰岛素受体基因第17外显子多态性与老年脑梗死的相关性

目的 探讨胰岛素受体（INSR）基因第17外显子1058位点多态性在老年脑梗死（CI）发生、发展中的作用。方法 采用PCR-限制性内切酶消化法检测150例老年CI患者（CI组）及80例健康查体者（对照组）胰岛素受体基因第17外显子的多态性。结果 CI组及CI组胰岛素抵抗（IR）者INSRT等位基因频率显著高于对照组,P〈0．01;CI组非胰岛素抵抗（NIR）者与对照组T等位基因频率的差别无显著性。结论 INSR基因17外显子多态性与CI的发生密切相关;INSR基因改变通过IR而对CI的发生发挥作用,而非直接导致CI。     

上海汉族人胰高血糖素基因单核苷酸多态性与原发性高血压的相关性

目的：检测人胰高血糖素基因编码区和调控区的单核苷酸多态性（SNP）及其基因型在上海汉族人群中的分布,并分析和原发性高血压（EH）的相关性。方法：用直接测序法和变性高效液相色谱法（DHPLC）进行SNP检测,用直接测序法对EH组和正常血压组（NT）进行SNP基因分型。结果：在胰高血糖素基因的2号外显子（3689位）和3号外显子连接区（5505位）各检测到1个SNP,对其中一个高频SNP（C3689T）的分型结果显示,SNP基因型频率在EH组和NT组间差异无显著性,不同基因型组间血压,血糖,血脂和肾功能等生化指标差异均无显著性。结论：SNP在不同种族中差异有显著性;胰高血糖素基因的C3689T基因型分布在NT和EH间差异无显著性。     

多囊卵巢综合征患者胰岛素受体基因及抵抗素基因内含子变异的研究

目的 探讨胰岛素受体基因(INSR)酪氨酸激酶区17外显子多态性及抵抗素基因内含子基因多态性在多囊卵巢综合征(PCOS)发病中的作用.方法 用聚合酶链反应一限制性片段多态性技术(PCR-RFLP)检测75例PCOS患者(PCOS组)和66例健康妇女(对照组)的INSR第17外显子1058位点多态性;用3100 Avant Genetic Analyzer测序,观察两组抵抗素基因第2内含子序列.结果 PCOS组和对照组INSR第17外显子多态性出现频率分别为41.0%和12.5%(P＜0.01),PCOS组非肥胖者和肥胖者分别为52.0%和25.0%(P＜0.01).PCOS组INSR第17外显子1058位点出现T和C等位基因患者的BMl分别为(22.99±3.24)ks/m2和(25.80±4.01)kg/m2(P＜0.01).两组抵抗素基因在距第2外显子末端39 bp位点上存在C和CT两种基因型,PCOS组C等位基因和CT双峰出现的频率分别为96%和4%,对照组分别为95%和5%,两组比较P＞0.05.结论 INSR第17外显子的多态性(C-T)可增大PCOS发病的风险,可能为PCOS的易感基因(在非肥胖者中更有意义);抵抗素基因第2内含子多态性与PCOS发病无明显相关性.     

RAS三种不同基因多态性与原发性高血压的相关性

目的 探讨肾素—血管紧张素系统(RAS) 血管紧张素原(AGT)基因T704C多态性、血管紧张素转换酶(ACE)基因I/D多态性及血管紧张素Ⅱ的1型受体(AT1R)基因A1166-C多态性与原发性高血压（EH）的关系.方法 采用PCR及PCR-限制性片段长度多态性(PCR-RFLP)方法,对220例EH患者（EH组）和1 004例非原发性高血压患者（NEH组）ACE基因Alu I/D多态性、AGT基因T704C多态性、AT1R基因A1166-C多态性进行基因型检测,计算等位基因频率.结果 两组AGT基因型及ACE基因型、等位基因频率均有显著差异（P分别 ＜0.01、0.05、0.05）;EH组TC-II、TC-AA、II-AA联合基因型频率显著低于NEH组（P均＜0.05）,CC-ID、CC-DD 、CC-AA、CC-AC+CC联合基因型频率显著高于NEH组(P均 ＜0.01).结论 携带AGT 基因CC基因型、ACE基因D等位基因者可能为发生EH易感人群;TC-II、TC-AA、II-AA联合基因型对EH的发生可能起负协同作用,而CC-ID、CC-DD、CC-AA、CC-AC+CC联合基因型可能起正协同作用.     

高血压患者胰岛素受体基因突变的检测

探讨胰岛素受体基因在高血压发病中的作用。方法采用聚合酶链式反应－单链构象多态性方法检测４６例高血压患者和３９例正常血压对照者的胰岛素受体基因第１７、１８外显子的多态性。结果检出外显子１７突变，突变在高血压组和对照组的频率分别为８．１２％和６．８８％（Ｐ＜０．０５），两组间有显著性差异（χ２＝４．９０８２）。突变经核苷酸序列分析为ＣＡＣ１０５８→ＣＡＴ１０５８纯合或杂合多态性突变。外显子１８未发现突变。结论提示编码第１０５８位氨基酸的ＣＡＣ可能是原发性高血压易感的基因标志，外显子１８为高度保守序列     

内皮素-1基因Lys198Asn及TaqI多态性与原发性高血压关系的研究

目的探讨内皮素-1外显子5Lys198Asn多态性及内含子4TaqI基因多态性与原发性高血压的关系。方法对264例确诊为原发性高血压的患者及103例对照者抽取静脉血，以多聚酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）分析ET-1基因中的外显子5Lys198Asn多态性及内含子4TaqI基因多态性。结果（1）高血压组与对照组ET-1的基因型和等位基因频率分布无明显差异（2）高血压组的吸烟人群中，ET-1外显子SLys198Asn位点的GT基因型人数比不吸烟组高，存在显著性差异。结论（1）内皮素-1外显子5Lys198Asn多态性及内含子4TaqI基因多态性与高血压的发病无显著相关；（2）ET-1外显子5Lys198Asn位点的T基因携带者可能对吸烟有较高反应性，增加高血压的患病率。     

Hypertension prevalence and control in Ulaanbaatar,Mongolia

This study examines the prevalence, awareness, treatment, and control of hypertension in Ulaanbaatar, Mongolia, using both the American Heart Association and conventional thresholds (130/80 and 140/90 mm Hg, respectively). In this randomized cross‐sectional study, two‐stage cluster sampling was used to obtain a sample of 4515 individuals aged ≥20 years. Hypertension was defined by the use of antihypertensives in the last 2 weeks or a blood pressure at or above the thresholds of 140/90 and 130/80 mm Hg. The mean age of the participants was 41.1 ± 14.0 years and 54.5% were women. Hypertension prevalence was 25.6% (using 140/90 mm Hg) and 46.5% (using 130/80 mm Hg). Prevalence increased with age and below 50 years men were consistently more likely to be hypertensive. Among hypertensive participants, the rates of awareness, treatment, and control were 69.7%, 46.8%, and 24.0% (using 140/90 mm Hg) and 49.1%, 25.8%, and 6.4% (using 130/80 mm Hg, respectively). Men had lower rates of awareness, treatment, and control compared with women, with the most pronounced differences at younger ages. This study shows that awareness, treatment, and control rates in Ulaanbaatar are better than in most low‐ and middle‐income countries but are still suboptimal. The largest “care gap” was in young men where a regulatory requirement for annual workplace blood pressure screening has the potential to enhance care. A major hypertension control program has just been initiated in Ulaanbaatar.     

Is tinnitus an early voice of masked hypertension? High masked hypertension rate in patients with tinnitus

Objectives: Tinnitus is hearing a sound without any external acoustic stimulus. There are some clues of hypertension can cause tinnitus in different ways. The aim of the study was to evaluate the relationship between tinnitus and masked hypertension including echocardiographic parameters and severity of tinnitus.

Methods: This study included 88 patients with tinnitus of at least 3 months duration and 85 age and gender-matched control subjects. Tinnitus severity index was used to classify the patients with tinnitus. After a complete medical history, all subjects underwent routine laboratory examination, office blood pressure measurement, hearing tests and ambulatory blood pressure monitoring. Masked hypertension is defined as normal office blood pressure measurement and high ambulatory blood pressure level.

Results: Baseline characteristics in patients and controls were similar. Prevalence of masked hypertension was significantly higher in patients with tinnitus than controls (18.2% vs 3.5%, p = 0.002). Office diastolic BP (76 ± 8.1 vs. 72.74 ± 8.68, p = 0.01), ambulatory 24-H diastolic BP (70.2 ± 9.6 vs. 66.9 ± 6.1, p = 0.07) and ambulatory daytime diastolic BP (73.7 ± 9.5 vs. 71.1 ± 6.2, p = 0.03) was significantly higher in patients with tinnitus than control group. Tinnitus severity index in patients without masked hypertension was 0 and tinnitus severity index in patients with masked hypertension were 2 (1–5).

Conclusion: This study demonstrated that masked hypertension must be kept in mind if there is a complaint of tinnitus without any other obvious reason.     

Redefining primary hyperaldosteronism as “The Syndrome of Inappropriate Aldosterone Secretion (SIALDS)”: A common but unrecognized cause of hypertension

The current screening and diagnostic recommendations for detecting Primary Hyperaldosteronism (PHA) focus on diagnosing the more severe and overt instances of renin-independent aldosterone production. However, milder forms of autonomous aldosterone secretion have been demonstrated to exist below the diagnostic thresholds of current PHA guidelines, and associate with clinically relevant cardiovascular risk. PHAencompasses a spectrum of renin independent aldosterone production, progressing from a subclinical state in normotensives to a full-blown clinical syndrome representing the resistant hypertension population. The authors propose the Syndrome of Inappropriately Elevated Aldosterone Secretion (SIALDS) concept as a potential new paradigm for understanding and diagnosing PHA and expanded diagnostic approach to improve early detection even in well-controlled hypertension. The authors also delve into the impact of treatments, including mineralocorticoid receptor antagonists and emerging aldosterone synthase inhibitors. Furthermore, The authors outline future research directions, proposing clinical trials to investigate the long-term identification and treatment outcomes of SIALDS.     

Portopulmonary hypertension

Portopulmonary hypertension (PPHT) is defined as precapillary pulmonary hypertension accompanied by hepatic disease or portal hypertension. Pulmonary hypertension results from excessive pulmonary vascular remodeling and vasoconstriction. These histological alterations have been indistinguishable from those of other forms of pulmonary arterial hypertension. Factors involved in the pathogenesis of PPHT include volume overload, hyperdynamic circulation, and circulating vasoactive mediators. The disorder has a substantial impact on survival and requires focused treatment. Liver transplantation in patients with moderate to severe PPHT is associated with a significantly reduced survival rate. The best medical treatment for patients with PPHT is controversial; most authors currently regard continuous intravenous application of prostacyclin as the treatment of choice for patients with severe PPHT. There is only very limited reported experience with inhaled prostacyclin or its analog, iloprost. Increasing evidence of the efficacy of the endothelin-receptor antagonist bosentan and of the phosphodiesterase-5 inhibitor sildenafil is emerging in highly selected patients with PPHT. In the future, a combination therapy of the above-mentioned agents might become a therapeutic option. Other agents such as β-blockers seem to be harmful to patients with moderate to severe portopulmonary hypertension. Up-to-date, randomized, double-blind, controlled clinical trials are lacking and are needed urgently. An erratum to this article is available at .     

老年高血压病患者血液流变学分析

对48例老年高血压患者（合并冠心病21例，糖尿病10例）进行血液流变学测定。结果老年高血压组纤维蛋白原（Fg）、血浆粘度（ηP）与对照组比较，P＜0．01。全血粘度（ηb）、全血还原粘度（ηh）、血沉（ESR）、血小板粘附率（PAD）及体外血栓干重（DW）与对照组比较，P＜0．05；高血压合并冠心病组与单纯高血压组比较，ηb，ηh，PAD及体外血栓长度（L）、湿重（MW）（P＜0．05），DW（P＜0．01）；高血压合并糖尿病组与单纯高血压组比较，Fg（P＜0．01），ηh，ηh，ESR，PAD，L，DW，（P＜0．05）。结果提示，老年高血压病患者血液流变学改变表现为纤维蛋白原增高、红细胞刚性增加、红细胞变形能力降低，致红细胞聚集性增强。高血压合并冠心病或糖尿病组，均以血小板反应性增高、红细胞聚集性增强、内皮功能受损及体外血栓形成能力增强更为突出。     

Relationship between Blood Pressure and Nocturia in Hypertensive Patients

Objective: We investigated the relationship between the pattern of hypertension and nocturia. Methods: Seventy‐seven patients who were being treated for hypertension completed a questionnaire regarding the number of times they urinated during the day and at night, and measured their blood pressure at home immediately after rising in the morning and just before going to sleep at night. The patients' blood pressure was also measured at the clinic. The patients were divided into groups according to their blood pressure patterns. The relationship between blood pressure pattern and number of urinations during the day and at night was investigated. Results: When the patients were divided into white coat hypertension, masked hypertension, sustained hypertension, and normotension groups, the number of daytime urinations was significantly lower in the sustained hypertension group compared with the normotension and white coat hypertension groups. When the subjects were divided into morning blood pressure surge and non‐morning surge groups or into morning hypertension and non‐morning hypertension groups, the numbers of nighttime urinations was significantly higher in the morning surge group or the morning hypertension group compared with the non‐morning surge group or non‐morning hypertension group, respectively. Conclusion: Sustained hypertension and elevation of blood pressure in the early morning influence the frequency of daytime and nighttime urination, respectively. It is important to control both the blood pressure and nocturia of hypertensive patients to improve their prognosis.     

Masked hypertensives: A disguised arterial stiffness population

The aim of this study was to determine whether masked hypertension (MHT) and white coat hypertension (WCHT) could be related to increased arterial stiffness and to identify the best office cutoff values of office BP for the diagnosis of MHT and WCHT. A total of 542 consecutive patients (50.2% male, age 42.5 ± 26.2 years) were included in the study. Patients were never treated before for hypertension. Patients were classified as true normotensives (44%), true hypertensives (30%), WC hypertensives (19%), and masked hypertensives (7%). Carotid‐femoral pulse wave velocity (c‐f PWV) was 9.91 ± 0.20 m/s in true normotension, 10.26 ± 0.27 m/s in WCHT, 11.28 ± 0.47 m/s in MHT, and 11.86 ± 0.23 m/s in true hypertension after adjustment for age and sex. Decision limits yielding 65% sensitivity were 130 mm Hg for office systolic BP with 72% specificity for the diagnosis of MHT. The optimal cutoff value of 80 mm Hg for office diastolic BP provides 60% sensitivity and 68% specificity. Decision limits yielding 63% sensitivity were 150 mm Hg for office systolic BP with 72% specificity for the diagnosis of WCHT. The optimal cutoff value of 95 mm Hg for office diastolic BP provides 75% sensitivity and 51% specificity. The presence of MHT should be taken into account when increased c‐f PWV is detected in the absence of office hypertension. The optimal office BP of 130/80 mm Hg provides the best sensitivity and specificity for the diagnosis of MHT. As regards the diagnosis of WCHT, the cutoff value of 150/95 mm Hg seems to provide the best option.     

Resistant hypertension, secondary hypertension, and hypertensive crises: diagnostic evaluation and treatment

Hypertension is a very common modifiable risk factor for cardiovascular morbidity and mortality. Patients with hypertension represent a diverse group. In addition to those with primary hypertension, there are patients whose hypertension is attributable to secondary causes, those with resistant hypertension, and patients who present with a hypertensive crisis. Secondary causes of hypertension account for less than 10% of cases of elevated blood pressure (BP), and screening for these causes is warranted if clinically indicated. Patients with resistant hypertension, whose BP remains uncontrolled in spite of use of 3 or more antihypertensive agents, are at increased cardiovascular risk compared with the general hypertensive population. After potentially correctible causes of uncontrolled BP (pseudoresistance, secondary causes, and intake of interfering substances) are eliminated, patients with true resistant hypertension are managed by encouraging therapeutic lifestyle changes and optimizing the antihypertensive regimen, whereby the clinician ensures that the medications are prescribed at optimal doses using drugs with complementary mechanisms of action, while adding an appropriate diuretic if there are no contraindications. Mineralocorticoid receptor antagonists are formidable add-on agents to the antihypertensive regimen, usually as a fourth drug, and are effective in reducing BP even in patients without biochemical evidence of aldosterone excess. In the setting of a hypertensive crisis, the BP has to be reduced within hours in the case of a hypertensive emergency (elevated BP with evidence of target organ damage) using parenteral agents, and within a few days if there is hypertensive urgency, using oral antihypertensive agents.