缺血性心脑血管病患者血浆同型半胱氨酸水平及其代谢相关酶基因多态性分析

目的　了解缺血性心脑血管病患者血浆同型半胱氨酸 (Hcy)水平的变化 ,分析该变化与Hcy代谢相关酶基因变异的相关性。方法　用高效液相色谱结合荧光检测法测定 80名正常人 ,86例脑梗死 ,6 6例心肌梗死患者血浆总同型半胱氨酸 (tHcy)浓度 ,分析血浆tHcy水平与缺血性心脑血管疾病与胱硫醚 β 合成酶 (CBS)基因 844ins6 8、甲硫氨酸合成酶 (MS)基因A2 75 6G、亚甲基四氢叶酸还原酶(MTHFR)基因C6 77T三种Hcy代谢相关酶基因突变之间的相关性。结果　缺血性心脑血管病患者血浆tHcy水平 [脑梗死组 (19.5 9± 10 .6 5 ) μmol/L ,心肌梗死组 (2 1.13± 9.5 7) μmol/L]较正常对照组[(13.73± 4.78) μmol/L]显著升高 (P <0 .0 5 ) ;MTHFRC6 77T纯合突变者血浆tHcy水平无论在正常对照组或患者组均较野生型及杂合突变者明显升高 (P <0 .0 5 )。MSA2 75 6G ,CBS 844ins6 8基因突变者血浆tHcy水平差异无显著性。结论　高Hcy血症是缺血性心脑血管病的重要危险因子 ,MTHFRC6 77T纯合突变可能是导致血浆Hcy水平轻、中度增高的遗传决定簇。     

急性脑梗死患者血浆同型半脘氨酸水平及其与改良急性卒中治疗低分子肝素试验病因分型的关系

目的探讨急性脑梗死患者血浆中同型半胱氨酸（Hcy）的水平变化及其与改良急性卒中治疗低分子肝素试验（TOAST）病因分型间的关系,为脑梗死的防治提供依据。方法采用回顾性分析,选择2012年4月-2013年4月收治的急性脑梗死患者120例为脑梗死组;按照2007年韩国改良TOAST病因分型分为5种不同的亚型,即动脉粥样硬化血栓形成型（AT）48例（40．0％）、小动脉疾病型（SAD）36例（30．0％）、心源性栓塞型（CE）14例（11．7％）、其他原因卒中型（SOD）2例（1．6％）、不明原因卒中型（SUD）20例（16．7％）。同时选择同期健康体检者60例为对照组,检测各组的血浆Hcy水平,分析改良TOAST各亚型与Hcy水平的关系。结果脑梗死组患者血浆Hcy水平高于对照组（P〈0．01）;脑梗死改良TOAST各亚型中SOD因例数少未作分析,其他各型中AT、SAD、CE、SUD组血浆Hcy水平均高于对照组（P〈0．05）,AT组Hcy水平与SAD组相比差异无统计学意义（P〉0．05）;AT组高于SUD组与CE组,差异有统计学意义（P〈0．05）。结论脑梗死与高Hcy血症有关,各亚型的血浆Hcy水平均增高并随TOAST亚型的不同而变化,AT、SAD亚型水平最高,提示高Hcy血症可能通过致动脉粥样硬化和对血管内皮细胞损伤引起脑梗死。     

同型半胱氨酸检测与临床应用

目的通过检测血浆同型半胱氨酸（Hcy）浓度,探讨Hcy与心脑血管疾病及2型糖尿病早期肾损害的关系。方法选择40～70岁的心脑血管疾病及2型糖尿病住院患者265例,健康体检健康者52例,用RocheP800全自动生化分析仪测定血浆中Hcy浓度。结果心血管病组、脑血管病组、糖尿病B组血浆Hcy水平均显著高于健康对照组（P〈0.05）,糖尿病A组虽高于健康对照组,但是差异无统计学意义。结论高Hcy血症与心血管疾病密切相关,是心血管疾病发病的一个重要危险因子;脑血管疾病与血浆Hcy呈正相关;血浆Hcy浓度随糖尿病肾病的发生及发展逐渐升高。     

心脑血管疾病患者胆固醇酯转运蛋白及某些基因缺陷

目的 分析心脑血管疾病患者和健康人血清胆固醇酯转运蛋白（CETP）水平、CETPD442G和114A突变频率和基因突变者血脂异常的特点。方法 94例心肌梗死、110例脑卒中和335名健康人,应用ELISA测定GETP浓度;合成^14C胆固醇酯标记的含载脂蛋白AI的双盘状、双层颗粒作基质测定GETP活性;并采用聚合酶链反应－限制性片断长度多态性分析CETP基因突变。结果 心梗组、脑卒中组CETP水平较健康人明显增高。心梗组、脑卒 中组和健康人D442G检出率分别为3.5%、3.6%和5％;114A检出率分别为1.2%、0.9%和1％,其中1名为健康人D442G纯合子。心梗、脑卒中患者两种CETP基因突变频率与健康人无差别。 基因突变者ETP浓度和活性仅为非基因突变者1／3,并伴有血清高密度脂蛋白胆固醇升高,甘油三酯降低。结论 心脑血管疾病患者CETP水平升高;CETP基因突变者有显著的脂蛋白异常。     

The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea.

BACKGROUND: Hyperhomocysteinemia is known to be a risk factor for cardiovascular diseases and is associated with a common mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene (677 C>T). The aims of this study were to confirm: 1) the association between the MTHFR C677T mutation and plasma homocysteine (Hcy) levels; 2) the MTHFR C677T mutation as a risk factor; 3) the association of the MTHFR C677T mutation and plasma B-type natriuretic peptide (BNP) levels; and 4) the correlation between Hcy and BNP levels in cardiovascular diseases. METHODS: A total of 227 patients for whom BNP was measured were enrolled in this study. Laboratory parameters included BNP, creatine kinase (CK), the myocardial isoenzyme of CK (CK-MB), troponin I (TnI), Hcy, C-reactive protein (CRP), lactate dehydrogenase (LDH), creatinine and folate. The MTHFR genotype was evaluated by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was shown by an electrophoretic technique. RESULTS: The prevalence of TT homozygotes was significantly higher in patients with cardiovascular diseases than in patients without cardiovascular diseases (p=0.0001). Patients homozygous for the TT mutation had the highest plasma Hcy levels compared with wild-type CC homozygotes and CT mutant heterozygotes (p=0.0001). Plasma BNP concentrations were significantly higher in patients with MTHFR C677T mutation compared to patients without the mutation (p<0.05). Plasma BNP concentrations were positively correlated with Hcy concentrations (r=0.196, p<0.001). Multivariate logistic regression analysis showed that elevated concentrations of BNP, CRP, Hcy and the presence of the MTHFR C677T mutation independently contributed to the prediction of cardiovascular diseases. CONCLUSIONS: In cardiovascular diseases, the MTHFR C677T mutation: 1) is associated with plasma Hcy levels; 2) is an independent risk factor for cardiovascular diseases, 3) is associated with plasma BNP levels, and 4) plasma Hcy levels are positively correlated with plasma BNP levels.     

Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis

The common 677C-->T mutation (+) in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme, has been associated with spina bifida neural tube defects (NTD). We combined all known Dutch control groups, a total of 1273 individuals, and found a prevalence of the 677C-->T mutation of 8.4%. When compared with the frequencies in 55 SB patients and to mothers with a child with SB their parents, this gave an OR of 1.9 [95% CI 1.1-3.3] for mothers and an OR of 1.5 [95% CI 0.74-3.1] for patients. The frequency of this mutation and its associated risk for NTD may be population-dependent. However, the frequencies of the 677C-->T mutation in different national and international control groups are almost all in the same range. We therefore combined the observed frequencies of the 677C-->T mutation in all reported studies. The mutation was present in 9.2% of controls, resulting in ORs for all reported NTD patients and their parents of: 1.7 [95% CI: 1.1-2.6]; 1.8 [95% CI: 1.1-3.1] and 1.9 [95% CI: 1.3-2.8] for mothers (combined prevalence 14.5%), fathers (combined prevalence 15.5%) and NTD patients (combined prevalence 16.4%), respectively, vs. all international controls. This meta-analysis confirms that the 677C-- >T mutation is a genetic risk factor for NTD.      

246例血清同型半胱氨酸测定结果的临床分析

目的通过对246例血清同型半胱氨酸(Hcy)测定结果的临床分析,探讨Hcy测定的临床意义。方法应用德国拜耳1650型全自动生化分析仪测定246例住院及门诊患者血清Hcy浓度。结果 55岁以上者Hcy测定结果与55岁以下者差异无统计学意义(P0.05);55岁以上者Hcy阳性率为23.96%,55岁以下者为56.67%,55岁以下者Hcy阳性率明显高于55岁以上者,差异有统计学意义(P0.01);女性Hcy阳性率为41.51%,男性为52.58%,男性明显高于女性,差异有统计学意义(P0.01)。结论 Hcy作为心脑血管疾病的独立致病危险因素,其值增高的患者容易诱发心脑血管疾病。临床应该尽早开展Hcy常规检查,以方便对心脑血管疾病的早期筛查、早期诊断和早期治疗,对于早期干预心脑血管病的危险因素,减少缺血性心脑血管病的发病有重要的临床意义。     

糖尿病血清同型半胱氨酸测定的临床意义

目的 :探讨 2型糖尿病患者高同型半胱氨酸 (Hcy)与心脑血管病及肾病的关系。方法 :比较 132例糖尿病 (单纯 2型糖尿病、糖尿病合并心脑血管病及肾病 )患者与正常人群血清 Hcy的水平 ,并观察叶酸对其治疗的效果。结果 :单纯 2型糖尿病组、糖尿病合并冠心病组、糖尿病合并脑梗死组及糖尿病合并肾病组的血清Hcy水平均明显高于对照组 (P均 <0 .0 0 1) ;糖尿病合并冠心病组、糖尿病合并脑梗死组及糖尿病合并肾病组的血清 Hcy水平也均明显高于单纯 2型糖尿病组 (P均 <0 .0 0 1) ;单纯冠心病或单纯脑梗死组血清 Hcy水平均高于单纯 2型糖尿病组 (P均 <0 .0 0 1)。糖尿病合并冠心病及糖尿病合并脑梗死组与单纯冠心病及脑梗死组比较均有显著性差异 (P均 <0 .0 0 1)。应用叶酸治疗 ,高 Hcy水平明显下降 (P<0 .0 0 1)。结论 :高 Hcy是 2型糖尿病合并心脑血管病及肾病的危险因素 ,小剂量叶酸对治疗高 Hcy血症有效。     

胱硫醚β-合成酶基因突变与青年缺血性脑血管疾病的相关性

背景:高半胱氨酸与脑梗死发病相关,胱硫醚β-合酶是同型半胱氨酸代谢关键酶,其基因突变是不是脑梗死的潜在的遗传候选因素尚不清楚。目的:从遗传基因变异的角度观察胱硫醚β-合酶基因T833C位点、G919位点碱基突变与青年缺血性脑卒中发病之间的关系。设计:病例-对照分析。单位:吉林大学中日联谊医院神经内科。对象:病例组:100例,为2003-04/2004-12吉林大学中日联谊医院住院患者。均是发病2d内住院、年龄≤45岁的青年脑梗死患者。对照组:100例,为同期来院体检的正常青年人。方法:以高效液相色谱法测定受试者空腹及负荷后血浆同型半胱氨酸水平,采用聚合酶链-限制性内切酶片段长度多态性分析和扩增阻滞突变体系法,对所有受试者的胱硫醚β-合酶基因T833C位点,G919A位点进行检测。结果:200例均进入结果分析。①胱硫醚β-合酶基因T833C位点,G919A位点基因检测病例组和对照组基因型分布、纯合子频率和等位基因频率差异均没有统计学意义(P>0.05)。②血浆同型半胱氨酸浓度:G919A,T833C各基因型间有显著差异(P<0.001);二个位点突变结果LSD-t检验显示:纯合子与杂合子,纯合子与野生型,C杂合子与野生型间差异均有显著性意义(P<0.05)。结论:①胱硫醚β-合酶基因T833C,G919A位点突变均可导致血浆同型半胱氨酸浓度明显增高。②胱硫醚β-合酶基因G919A和T833C基因突变与青年脑血管病发病无直接相关性。     

Elevated plasma homocysteine levels in L-dopa-treated Parkinson's disease patients with dyskinesias.

BACKGROUND: Elevated plasma homocysteine (Hcy) concentrations are associated with increased risk of systemic vascular diseases, Alzheimer's disease and vascular dementia. Several cross-sectional reports and two prospective clinical studies have recently reported elevated plasma Hcy levels in L-dopa-treated Parkinson's disease (PD) patients and Hcy has been proposed as a possible mediator for the development of long-term L-dopa motor complications (such as wearing off and on-off phenomena, and dyskinesias). The aim of the study was to elucidate a possible role of L-dopa-related hyperhomocysteinemia in the development of dyskinesias. METHODS: In this cross-sectional study we compared Hcy, B(12) and folate levels in 53 PD patients treated with L-dopa (29 with dyskinesias, 24 without dyskinesias). RESULTS: Mean plasma Hcy levels were higher in the group of PD patients with dyskinesias (19 vs. 15.4 micromol/L; T: 2.12; p=0.04). After taking into account potential confounding factors, analysis of the data revealed that the occurrence of dyskinesias progressively increased with plasma Hcy levels (relative risk 1.2, 95% CI 1.015-1.4; p=0.03). CONCLUSIONS: Our results raise the possibility that Hcy plays a role in the development of dyskinesias, through its toxic effects on both dopaminergic neurons and non-substantia nigra, non-dopaminergic neurons.     

C-reactive protein but not soluble CD40 ligand and homocysteine is associated to common atherosclerotic risk factors in a cohort of coronary artery disease patients

ObjectivesOne third to one half of the variation in vascular disease occurrence remains unexplained by traditional risk factors. Since atherosclerosis may, in part, be an inflammatory disease, circulating factors related to inflammation may be predictors of cardiovascular disease.The aim of this study was to evaluate the association between common atherosclerotic risk factors and markers of inflammation.Design and methodsSerum levels of soluble CD40 (sCD40L), high-sensitive C-reactive protein (hs-CRP) and homocysteine (Hcy) were measured in 251 patients selected from a series of 438 subjects affected by previous myocardial infarction, angina or other cardiovascular diseases.ResultssCD40L levels were lower in patients with previous myocardial infarction while no association was observed between sCD40L and Hcy levels and other risk factors. Only hs-CRP levels positively correlated with increased number of risk factors.ConclusionIn a setting of patients affected with coronary artery disease no association between sCD40L and homocysteine levels and atherosclerotic risk factors was observed; only hs-CRP showed increased levels according to the number of risk factors.Future studies using larger cohorts will be needed to validate the clinical use of markers of inflammation in the prediction of cardiovascular events.     

Plasma homocysteine levels in L-dopa-treated Parkinson's disease patients with cognitive dysfunctions.

Elevated plasma homocysteine (Hcy) concentrations are associated with Alzheimer's disease and vascular dementia. Several recent reports have indicated that L-dopa treatment is an acquired cause of hyperhomo-cysteinemia. Despite the fact that a large proportion of Parkinson's disease (PD) patients develop cognitive dysfunctions or dementia, particularly in the late stages of the illness and after long-term L-dopa treatment, the relationship between Hcy and dementia in PD has not been fully investigated. The aim of this study was to evaluate plasma Hcy levels in a group of L-dopa-treated PD patients with cognitive impairment and to elucidate a possible role of Hcy in the development of cognitive dysfunctions in PD. We compared Hcy, vitamin B12 and folate levels in 35 parkinsonian patients treated with L-dopa (14 with cognitive dysfunctions, 21 without cognitive impairment). Analysis of the data revealed that mean Hcy levels were significantly higher in the group with cognitive dysfunctions (21.2+/-7.4 vs. 15.8+/-4.4 micromol/L; p=0.0001), while there was no difference in age, sex, B12 and folate levels. In addition, logistic regression analysis showed that the risk of cognitive dysfunction progressively increased according to Hcy levels after correction for age, sex and B-vitamin status (odds ratio, 19.1; 95% CI, 1.5-241.4; p=0.02). Our results raise the possibility of a relationship between Hcy levels and cognitive dysfunctions in this group of L-dopa-treated PD patients. However, prospective studies on large cohorts of patients should be performed to clarify such an association.     

MTHFR基因型与晚期肾脏病/肾移植受者血浆高半胱氨酸水平及心血管病发生率的关系

目的 探讨血浆高半胱氨酸(Hcy)在肾脏病患者发生心血管疾患中的影响。方法 采用荧光偏振免疫分析、DNA基因型别分析等技术,对50例晚期肾脏病患者及肾移植受者进行了Hcy水平、N5,N10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性分布测定及相关分析,并与肾病综合征患者及正常人进行对照。结果 (1)受检人群中Hcy水平较正常人及肾病综合征患者组明显升高;(2)受检人群中MTHFR的TT突变机率较正常人及肾病综合征组明显升高;(3)TT基因型与Hcy水平升高及心血管疾患的发生机率密切相关。结论 血浆中的Hcy可能是晚期肾脏病患者和肾移植受者体内的一种重要毒性物质。受检人群中MTHFR的高频率TT突变可能与血浆Hcy的水平升高有关。     

Methylenetetrahydrofolate reductase polymorphism, plasma homocysteine and age

BACKGROUND: Elevated fasting levels of total homocysteine are now accepted as an independent risk factor for the development of arteriosclerotic vascular diseases. A polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR), caused by the C677T point mutation, leads to increased thermolability of the enzyme, with reduced enzyme activity. We studied the frequency of this mutation in different groups of the Swiss adult population. PATIENTS AND METHODS: DNA from 361 subjects was screened for the thermolabile MTHFR variant with PCR. Included were healthy subjects without vascular disease (n = 118), older healthy subjects (n = 106), patients with coronary artery disease (CAD, n = 75), and patients with peripheral arterial occlusive disease (PAOD, n = 63). RESULTS: In the different groups studied, homozygosity for the mutation ranged from 4.8 to 16.2%, with a frequency of 16.2% in the healthy cohort. The allele frequencies of the thermolabile allele were 38.5 and 27.3 in young and old controls, and 37.3 and 33.3 in CAD and PAOD patients. In the healthy younger subjects the mutant allele was 1.4 times more frequent compared to the older subjects (P = 0.01). No difference in either MTHFR genotype distribution (P = 0.33) or allele frequencies (P = 0.48) between patients and controls was found. Except for the PAOD group with elevated tHcy levels for the +/+ carriers compared to the other genotypes, no statistically significant difference was found comparing homocysteine levels with genotype. CONCLUSION: This study shows no link between the mutation and the occurrence of vascular disease but we found evidence pointing to a correlation between the mutation and longevity in our population.     

516例患者血清同型半胱氨酸测定结果的临床分析

目的通过对516例血清同型半胱氨酸(Hcy)测定结果的临床分析,探讨Hcy测定的临床意义。方法应用日立7600-020型全自动生化分析仪测定516例住院及门诊患者血清Hcy浓度。结果 60岁以上者Hcy测定结果与60岁以下者差异无统计学意义(P>0.05);60岁以上者Hcy阳性率为24.58%,60岁以下者为55.32%,60岁以下者Hcy阳性率明显高于60岁以上者(P<0.01);女性Hcy阳性率为41.95%,男性为53.24%,男性明显高于女性(P<0.01)。结论尽早开展Hcy常规检查,对于早期干预心脑血管病的危险因素,减少缺血性心脑血管病的发病有重要的临床意义。     

心脑血管疾病患者血清同型半胱氨酸检查与血脂检查分析

目的探讨心脑血管疾病患者血清同型半胱氨酸检查与血脂检查的比较。方法选择同期于本院健康体检的人员200例（对照组）观察对照组与研究组治疗前和治疗15d后血清同型半胱氨酸和血脂变化并进行比较。结果对照组与研究组治疗前Hcy比较（P〈0．01）差异有统计学意义。对照组与研究组治疗后Hcy比较（P〉0．05）差异无统计学意义。对照组与研究组血脂进行比较（P〉0．05）差异无统计学意义。结论通过本组心脑血管疾病患者进行血清同型半胱氨酸检查与血脂检查，观察在疾病发生早期Hcy明显增高，经治疗后Hcy基本降低为正常水平，而研究组与对照组进行血脂检测比较无明显变化，对比差异无统计学意义。充分说明血清同型半胱氨酸检查对心脑血管疾病患者有对疾病程度和愈合有指导意义，Hcy越高病情越重，出现并发症概率更高，总之血清同型半胱氨酸检查在心脑血管疾病患者中检测有着重要的指导意义，值得临床广泛开展和应用。     

Molecular analysis of homocystinuria in Brazilian patients

BACKGROUND: Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. However, no data are available concerning the molecular basis of this disease in Brazilian populations. METHODS: We studied 14 Brazilian patients from 11 unrelated families using a combined screening approach, involving restriction analysis, single-strand conformational polymorphism (SSCP) scanning, and sequencing. RESULTS: All patients presented homocysteine levels higher than 200 mumol/l before the beginning of treatment. The most common CBS gene mutations, p.G307S (c.919G > A) and p.I278T (c.833T > C), were evaluated and the allele c.919A was not found. One allele with the c.844 ins68 (4.5%) in the CBS gene was found. Three families (6 patients) presented the allele c.833 C (13.6%), without the insertion in the heterozygous state. SSCP scanning and sequencing showed 3 alleles p.T191M (13.64%) in 2 families. One allele with a novel mutation was found in exon 4 (c.168T > A) of the CBS gene (4.5%). We also analyzed c.677C > T and c.1298A > C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the 2756A > G polymorphism in the methionine synthase (MTR) gene. The frequencies of mutated alleles were: 50% c.677T and 18.2% c.1298C for MTHFR, and 27.3% c.2756G for MTR. CONCLUSION: In spite of the high level of racial mixing in the country, Brazilian homocystinuric patients did not present a high prevalence of the most common mutations described in the literature.     

慢性肾衰患者血清NT—proBNP和HCY的检测及其意义

[目的]探讨慢性肾衰患者血清氨基末端脑钠肽前体（NT-proBNP）和同型半胱氨酸（Hcy）含量与心血管疾病之间的关系.[方法]慢性肾衰患者87例分为心血管疾病组（CVD组）55例和无心血管疾病组（NVCD组）32例,另选50例健康对照（对照组）,检测其血清NT-proBNP、Hcy和其他生化指标并进行比较.[结果]两组慢性肾衰患者除内生肌酐清除率低于健康对照组外其他各指标均明显高于健康对照组（P〈0.01）且肾衰患者两组间NT-proBNP、Hcy水平有显著性差异（P〈0.01）,其他指标均无差异（P〉0.05）.慢性肾衰患者NCVD组NT-proBNP、Hcy水平与血清肌酐浓度成正相关,与内生肌酐清除率负相关（P〈0.01）,但CVD组NT-proBNP与血清肌酐和内生肌酐清除率没有相关性.[结论]NT-proBNP、Hcy可预测慢性肾衰患者心血管疾病的发生,NT-proBNP也可作为反映其心血管功能的指标.     

血清Hcy、MTHFR基因多态性与血液病患者并发冠心病的相关性

目的:观察血液病并发冠状动脉粥样硬化性心脏病(简称冠心病)患者血清同型半胱氨酸(Hcy)表达水平及亚甲基四氢叶酸还原酶(MTHFR)基因多态性情况,分析血清Hcy水平及MTHFR基因多态性与血液病并发冠心病的关系。方法:回顾性收集2018年3月至2020年3月本院完成治疗的血液病并发冠心病患者80例病历资料,纳入观察组。另选取同期本院完成治疗的单纯血液病患者92例病历资料,纳入对照组。抽取两组患者静脉血,检测血清Hcy水平及MTHFR基因多态性,对比两组不同MTHFR基因分型血清Hcy水平,分析上述指标对血液病并发冠心病的影响。结果:观察组MTHFR基因TT、TC检出率均高于对照组,而MTHFR基因CC分布频率明显低于对照组(P<0.05)。观察组MTHFR基因TC、CC基因型患者血清Hcy水平均明显高于对照组(P<0.05)。二元Logistic回归分析结果显示,MTHFR基因TC/CC基因型血清Hcy过表达可能是诱发血液病患者并发冠心病的影响因素(OR=2.107/OR=1.634,P<0.05)。绘制ROC曲线结果显示,MTHFR基因TC/CC基因型血清Hcy水...     

Serum S100B levels in patients with neural tube defects

BACKGROUND: We investigated the levels of S100B protein in the serum of patients with neural tube defects (NTD), and the ontogenetic variation on this group of patients. METHODS: Samples from 24 control individuals and 25 patients with NTD were studied. S100B protein levels were determined using LIA-mat Sangtec kit. RESULTS: We observed no difference between the levels of S100B in NTD patients (median 0.860 microg/l) and control individuals (median 0.580 microg/l). When groups were classified according to age, decreased levels were observed in subjects > or = 4 y compared to the younger ones, on the control group; no significant difference was observed when the same comparison is performed on the group of patients with NTD. CONCLUSIONS: This study indicates that the serum concentration of S100B in patients with NTD is similar to that of normal individuals; however, patients with NTD do not show the negative correlation with age which was observed on normal individuals.