ApoE基因多态性与中国人群MS相关性Meta分析

目的 探讨载脂蛋白E(ApoE)基因多态性与中国人群代谢综合征(MS)各组分的相关性.方法 通过计算机文献检索(中国生物医学文献数据库、中国期刊全文数据库、Medline、Pubmed等数据库)、文献追溯和人工检索的方法,收集1998-2012年公开发表的有关ApoE基因多态性与中国人群MS各组分相关性研究的文献,确定纳入、排除标准,所纳入的文献均为病例-对照研究;运用Meta分析软件Review Manager 4.2对各文献数据进行处理,以病例组及对照组ApoE基因型分布的OR值为效应指标,计算合并OR值及95％ CI,以漏斗图检验人选文献的偏倚,改变统计模型进行敏感性分析.结果 最终共有25篇文献进入系统评价,Meta分析结果表明,高尿酸血症病例与对照组比较,等位基因E2、E3及基因型E2/E2、E3/E3的分布差异均有统计学意义,OR值分别为0.46、1.73、0.05、1.60;其他组分(胰岛素抵抗及糖尿病、肥胖、高血压、血脂异常)病例与对照组的不同等位基因和基因型分布也均有统计学意义.结论 ApoE基因多态性与MS各组分均相关,而不同组分疾病表现在不同的基因多态性上;ApoE基因多态性是患MS疾病的危险因素之一.     

妊娠合并HELLP综合征12例临床分析

目的:探讨HELLP综合征对母儿的影响。方法:对12例HELLP综合征患者的临床资料进行回顾性分析。结果:12例患者中死亡1例,围产儿死亡4例,死亡率分别为7%及29%。HLLP综合征患者血小板和肝功能在分娩后3～5天恢复正常。结论:HLLP综合征是重度妊高征的1种严重威胁母儿安全的并发症,及早发现并适时终止妊娠,可以降低母儿死亡率。     

ADH2、ALDH2基因多态性及饮酒和胃癌关联的研究

[目的]探讨乙醇脱氢酶2(ADH2)、乙醛脱氢酶2(ALDH2)基因多态性及饮酒和胃癌的联系。[方法]采用病例对照研究的方法,利用变性高效液相色谱法(DHPLC)检测常熟市201例男性原发性胃癌患者和对照组ADH2、ALDH2基因型,结合饮酒因素分析其在胃癌发生中的作用。[结果]与携带ADH2(A/A)或ALDH2(G/G)基因型者相比,其它基因型并不增加患胃癌的危险性(P0.05),结合ADH2、ALDH2基因多态性及饮酒因素发现,即使饮酒量超过1.5 kg.年饮酒者任何基因型组合和不饮酒者携带ADH2(A/A)或ALDH2(G/G)基因型者相比,患胃癌的危险性并未增加(P0.05)。[结论]ADH2、ALDH2基因多态性与胃癌易感性无关。     

PPAR2基因多态性与哈萨克族代谢综合征关系

目的 探讨PPARγ2基因Pro12Ala、C1431T多态性与哈萨克族代谢综合征(MS)关系。方法 应用基质辅助激光解析电离时间飞行质谱技术检测245例MS患者和244名对照者PPARγ2基因Pro12Ala、C1431T的基因型。结果 与对照组比较,MS组Pro12Ala位点PP基因型和P等位基因频率差异均无统计学意义(P＞0.05);MS组C1431T位点CC基因型和C等位基因频率分别为78.8%和87.6%,均高于对照组的68.4%、83.0%(P＜0.05);多因素logistic回归分析显示,C1431T位点CC基因型是MS的危险因素(OR=2.043);不同因素间交互作用结果显示,饮酒者携带C1431T位点CC基因型是不饮酒者携带CT/TT基因型患病风险的2.788倍。结论 PPARγ2基因C1431T位点CC基因型、C等位基因可能是MS的遗传危险因素,CC基因型与饮酒可能存在相加交互作用。     

Influence of genetic admixture on polymorphisms of alcohol-metabolizing enzymes: analyses of mutations on the CYP2E1, ADH2, ADH3 and ALDH2 genes in a Mexican-American population living in the Los Angeles area

In pre-Columbian times, the population of Mexico was totallyindigenous or Amerindian. When Columbus arrived in the New World,and Cortez marched from Vera Cruz into the Valley of Mexico,a whole new element of genes was introduced into the existingpopulations. They were a diverse set of genes reflecting Europeand Africa. Today, Mexican– Americans are estimated tobe derived from Native Americans by 31%, Spanish     

Dietary total antioxidant capacity and the occurrence of metabolic syndrome and its components after a 3-year follow-up in adults: Tehran Lipid and Glucose Study

ABSTRACT: BACKGROUND: There is growing evidence that dietary antioxidants could have favorable effects on the attenuation and prevention of metabolic disorders. In the current study we investigated the association of dietary total antioxidant capacity (TAC) and metabolic syndrome (MetS) components and the occurrence of the MetS during a 3-year follow-up. METHODS: This longitudinal study was conducted in the framework of Tehran Lipid and Glucose Study, between 2006-2008 and 2009-2011, on 1983 adults, aged 19-70 y. The usual intakes of participant were measured using a validated semi-quantitative food frequency questionnaire and dietary TAC was estimated at baseline. The MetS components were assessed at baseline and 3 years later. Multiple logistic regression models were used to estimate the occurrence of the MetS and its components according to dietary TAC quartile categories. RESULTS: The mean age of participants was 40.4 +/- 13.0 y, and mean BMI was 27.03 +/- 4.9 kg/m2 at baseline. After adjustment for potential confounding variables, TAC was associated with MetS components at baseline. Participant with highest TAC score had lower weight and abdominal fat gain during the 3 year follow-up. The chance of having the MetS, abdominal obesity and hypertension after 3 years decreased across the increasing dietary TAC quartile (P for trend < 0.01). Dietary TAC more than 1080 mumolTE/100 g of food, resulted in a 38 % decrease in the risk of central obesity (OR = 0.62, 95 % CI = 0.38-0.99). CONCLUSION: We demonstrated that higher dietary antioxidant intakes have favorable effects on metabolic disorders and, more interestingly, prevent subsequent weight and abdominal fat gain during a 3-year follow-up.     

The 13CO2 breath test for liver glycogen oxidation after 3-day labeling of the liver with a naturally 13C-enriched diet

OBJECTIVE: When naturally (13)C-enriched carbohydrate is used to label hepatic glycogen, (13)C-liver glycogen oxidation can be monitored subsequently by measuring the (13)C enrichment of breath CO(2) during a sedentary fast. In our previous breath test studies, we used a 1-d labeling protocol to enrich liver glycogen. Others found that after 3 d of labeling the liver glycogen (13)C enrichment is identical to the dietary carbohydrate (13)C enrichment. METHODS: We compared a diet protocol in which naturally (13)C-enriched carbohydrate was given for 3 d before the breath test with our previously applied 1-d labeling design. The (13)CO(2) breath test was combined with indirect calorimetry. The results were compared with those from our previous studies. In addition, we compared liver glycogen oxidation rates with those from our present technique and different techniques as used in other published studies. RESULTS: Six healthy volunteers were included in this study. The (13)C enrichment of breath CO(2) at plateau excretion level did not differ after 1 or 3 d on a labeling diet. However, the end of plateau time tended to be later after the 3-d diet, 14.3 h versus 12.5 to 13.5 h postprandially in the 1-d labeling studies. Also, the return to baseline time was later in the 3-d study, at 25.8 h versus 19.0 to 23.2 h postprandially after 1 d of labeling. The liver glycogen oxidation rate was similar in both techniques until 17 h postprandially. After this time the 3-d labeling protocol showed a higher level of liver glycogen oxidation. CONCLUSION: The results indicated that the labeling of liver glycogen is slightly less complete after 1 d on a (13)C-enriched diet as compared with 3-d labeling. Our (13)C breath test results compared rather well with studies from the literature using the (13)C-NMR technique, the D(2)O technique, or the (13)CO(2) breath method to measure liver glycogen oxidation.     

No evidence for an association between genetic polymorphisms of beta(2)- and beta(3)-adrenergic receptor genes with body mass index in Aymara natives from Chile

OBJECTIVE: We assessed the association between Gln27Glu and Trp64Arg genetic polymorphisms of the beta(2) (ADRB2) and beta(3) (ADRB3) adrenergic receptor genes with body mass index and other cardiovascular risk factors. METHODS: In a cross-sectional study, adult Aymara subjects (n = 152) living in the Andean regions of northern Chile were characterized with respect to their ADRB2 and ADRB3 genotypes, body mass index, plasma leptin and insulin levels, fasting glucose concentration, blood pressure, and plasma lipid profile. RESULTS: The frequency of the Glu27 allele of the ADRB2 gene was estimated to be 0.04, and the allele frequency of the Arg64 variant of the ADRB3 gene was estimated as 0.13. No associations were found between the Trp64Arg polymorphism of the ADRB3 gene and body mass index or other cardiovascular risk factors. The small number of subjects with the allele encoding Glu27 in the ADRB2 gene seriously limited the analysis of the association between genotype and phenotype with the use of this polymorphism, although no clear associations were found. CONCLUSION: We found insufficient evidence to support an association between polymorphisms Gln27Glu and Trp64Arg of the ADRB2 and ADRB3 genes, respectively, with body mass index and other cardiovascular risks in the rural Aymara population from Chile.     

Nurse-led motivational interviewing to change the lifestyle of patients with type 2 diabetes (MILD-project): protocol for a cluster, randomized, controlled trial on implementing lifestyle recommendations

Background  

The diabetes of many patients is managed in general practice; healthcare providers aim to promote healthful behaviors, such as healthful diet, adequate physical activity, and smoking cessation. These measures may decrease insulin resistance, improve glycemic control, lipid abnormalities, and hypertension. They may also prevent cardiovascular disease and complications of diabetes. However, professionals do not adhere optimally to guidelines for lifestyle counseling. Motivational interviewing to change the lifestyle of patients with type 2 diabetes is intended to improve diabetes care in accordance with the national guidelines for lifestyle counseling. Primary care nurses will be trained in motivational interviewing embedded in structured care in general practice. The aim of this paper is to describe the design and methods of a study evaluating the effects of the nurses' training on patient outcomes.     

Association study of dopamine D2, D4 receptor gene, GABAA receptor beta subunit gene, serotonin transporter gene polymorphism with children of alcoholics in Korea: a preliminary study.

The studies on the genetic risk factors of the children of alcoholics (COAs) are still in an early stage. The A1 allele of the dopamine receptor 2 gene (DRD2) may be associated with positive alcohol expectancy of the COAs. In addition, several researchers reported that the COAs might be associated with the GABA A receptor beta3 subunit gene (GABRB3) and serotonin transporter gene (5-HTTLPR). In this study, we investigated the association of the polymorphism of the DRD2, Dopamine D4 receptor gene (DRD4), GABRB3, 5-HTTLPR with the COAs. Twenty-two COAs and 23 age and sex-matched control children were included for the genetic study (children of nonAlcoholics; nonCOAs). All COAs aged 6-18 were recruited and selected from family of alcoholic patients in Alcohol Clinic of the University hospital. The genotyping of the DRD2, DRD4, GABRB3, 5-HTTLPR was carried out. We used the Chi-square method for evaluating the association of genetic polymorphic allelic status with the COAs. The frequency of the A1+ allele at DRD2 in the COAs was significantly higher than nonCOAs. Significant association between the genotype at DRD4 and the COAs was found. The G1- alleles of the GABRB3 in COAs were significantly higher than nonCOAs. However, no association of the polymorphic alleles of the 5-HTTLPR with the COAs was found. We found that the children of alcoholics had a significantly increased number of risk alleles of candidate genes of alcohol drinking expectancy. Despite of several limitations, this study provides some preliminary information on the risk and protective factors associated with the COAs, which can be used as a foundation for prevention and intervention of future psychopathology.     

Perinatal health in Rotterdam, the Netherlands - Experiences after 2 years of 'Ready for a baby'

The primary goal of the Rotterdam-based health programme 'Ready for a baby' is an improvement in perinatal results via improved, risk-directed care shared across disciplines. After 2 years we conclude that many women who are or who will become pregnant lack knowledge about perinatal risk factors.     

Effects of risk factors for and components of metabolic syndrome on the quality of life of patients with systemic lupus erythematosus: a structural equation modeling approach

Purpose

This study assessed the relationships among the risk factors for and components of metabolic syndrome (MetS) and health-related quality of life (HRQOL) in a hypothesized causal model using structural equation modeling (SEM) in patients with systemic lupus erythematosus (SLE).

Methods

Of the 505 SLE patients enrolled in the Korean Lupus Network (KORNET registry), 244 had sufficient data to assess the components of MetS at enrollment. Education level, monthly income, corticosteroid dose, Systemic Lupus Erythematosus Disease Activity Index, Physicians’ Global Assessment, Beck Depression Inventory, MetS components, and the Short Form-36 at the time of cohort entry were determined. SEM was used to test the causal relationship based on the Analysis of Moment Structure.

Results

The average age of the 244 patients was 40.7 ± 11.8 years. The SEM results supported the good fit of the model (χ ² = 71.629, p = 0.078, RMSEA 0.034, CFI 0.972). The final model showed a direct negative effect of higher socioeconomic status and a positive indirect effect of higher disease activity on MetS, the latter through corticosteroid dose. MetS did not directly impact HRQOL but had an indirect negative impact on it, through depression.

Conclusions

In our causal model, MetS risk factors were related to MetS components. The latter had a negative indirect impact on HRQOL, through depression. Clinicians should consider socioeconomic status and medication and seek to modify disease activity, MetS, and depression to improve the HRQOL of SLE patients.

     

前列腺增生症术后尿路感染患者血清炎症因子、miRNA-15a、miRNA-34b和miRNA-103及CYP1A2基因多态性研究

目的探讨前列腺增生症术后尿路感染患者血清炎症因子、微小RNA(microRNA,miRNA)-15a、miRNA-34b和miRNA-103及CYP1A2基因多态性相关性。方法选择浙江省医疗健康集团杭州医院于2017年7月-2019年7月收治的前列腺增生症患者112例,均行经尿道前列腺等离子双极电切术(Transurethral plasmakinetics resection of prostate,TUPKRP),根据是否发生术后尿路感染分为感染组(n=27)与非感染组(n=85)。分析两组患者血清炎症因子,外周血miRNA-15a、miRNA-34b和miRNA-103表达,及CYP1A2基因多态性变化。结果感染组血清CRP、TNF-α、IL-6和PCT水平高于非感染组(P<0.05)。感染组外周血miRNA-15a表达低于未感染组,而miRNA34b和miRNA103表达高于未感染组(P<0.05)。感染组CYP1A2基因位点rs2069514-3859等位基因A分布高于非感染组,而G分布低于非感染组(P<0.05)。感染组CYP1A2基因位点rs20695143859基因型AA分布高于非感染组(P<0.05)。结论前列腺增生症术后尿路感染患者血清炎症因子CRP、TNF-α、IL-6和PCT水平升高,血miRNA-15a低表达及miRNA34b和miRNA103高表达参与了术后尿路感染发生、发展,且CYP1A2基因位点rs20695143859等位基因A可能为术后尿路感染易感基因。     

PNPLA3、TM6SF2基因多态性及其与吸烟、饮酒交互作用对HBV相关肝癌的影响

目的 探讨PNPLA3、TM6SF2基因多态性及其与吸烟、饮酒交互作用对HBV相关肝癌（hepatitis B virus-associated hepatocellular carcinoma,HBV-HCC）的影响。方法 收集2010年1月至2014年3月HBV-HCC患者、慢性乙型肝炎（乙肝）患者（CHB）、肝硬化患者（LC）以及健康体检者的血液标本,应用飞行质谱技术检测patatin样磷脂酶域3（PNPLA3）基因位点rs738409和6号跨膜超家族成员2（TM6SF2）基因位点rs58542926的单核苷酸多态性（SNP）。利用在线SNP stats寻找基因多态性的最优赋值方法;检验SNP是否符合哈-温（H-W）遗传平衡定律;采用多分类logistic回归分析PNPLA3和TM6SF2多态性及吸烟、饮酒因素对HBV-HCC的影响,采用叉生分析和二分类logistic回归分析探讨基因-基因、基因-吸烟、饮酒交互作用对HBV-HCC的影响。结果 H-W遗传平衡检验结果显示,CHB组rs738409位点的基因型频率分布不符合H-W遗传平衡定律（χ²=11.980,P<0.005）,CHB组rs58542926位点、HBV-HCC组和LC组rs738409和rs58542926位点均符合H-W遗传平衡定律;调整年龄、性别的影响后,与健康体检者相比,HBV-HCC组rs58542926突变的OR=1.659,95% CI：1.026~2.684,P=0.039。与CHB组相比,HBV-HCC组饮酒的OR=1.680,95% CI：1.121~2.519,P=0.012。与LC组相比,HBV-HCC组饮酒与吸烟的OR值（95% CI）分别为1.539（1.071~2.213）和1.453（1.005~2.099）。交互作用分析显示,HBV-HCC组与CHB+LC组相比,rs738409与rs58542926交互作用的叉生分析相加模型OR=1.548（U=1.885,P=0.029）,logistic回归相乘模型OR=1.658（P=0.024）;饮酒与rs738409的交互作用叉生分析,饮酒且rs738409突变相加模型OR=1.811（U=1.965,P=0.024）,相乘模型无统计学意义;logistic回归相乘模型吸烟与饮酒的交互作用OR=1.756（P<0.001）。结论 TM6SF2基因突变、吸烟、饮酒是HBV-HCC的危险因素,PNPLA3与TM6SF2基因都突变、饮酒并且吸烟是HBV-HCC的危险因素。PNPLA3的单基因突变可以减弱饮酒对HBV-HCC的危害。     

Thermoluminescence dosimetric properties of a new thin beta detector (LiF:Mg, Cu, P; GR-200F) in comparison with highly sensitive Al2O3:C beta dosimeters.

There is an increasing need for efficient beta detectors to fulfil ICRU recommendations for new quantities especially in the field of medical physics and retrospective dosimetry. The thermoluminescence properties of thin LiF:Mg, Cu, P (GR-200F) tapes produced in 1998 by Sange Company, People's Republic of China, are investigated and compared with those of highly sensitive thin Al2O3:C beta detectors as regards their applicability in the detection of low energy photons and beta particles. The radiation dose response, minimum detectable dose, reproducibility of measurements and effect of residual signal at low dose are assessed for the possible low level beta dosimetry use. The radiation dose response and photon and beta detection efficiencies are tested underpractical laboratory conditions. The effects of indoor fluorescent light and residual signal after the first read-out are investigated with a view to optimising handling conditions such as post-irradiation and pre-heating treatments for routine dosimetry. The photon energy responses of the detectors are investigated using 150 keV filtered x-rays and 60Co gamma-rays.