叶酸代谢相关基因多态性及血浆同型半胱氨酸与唐氏综合征关系研究

目的研究叶酸代谢相关的亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTH-FR)基因多态性与唐氏综合征(Down syndrome,DS)发生的关系。方法选择100例生育过DS患儿的汉族母亲及100名相匹配的正常对照组母亲,PCR-限制性片段长度多态性方法检测MTHFR677C/T的基因型,化学发光法检测血浆中同型半胱氨酸(homocysteine,HCY)的水平。结果病例组MTHFR677T等位基因的频率较对照组增高,差异有统计学意义(P=0.002);杂合基因型CT的比值比为2.12(95%CI:1.14～3.94);而纯合基因型TT的比值比为3.43(95%CI:1.41～8.36)。平均血浆HCY浓度在病例组[(9.04±3.85)μmol/L]较对照组[(6.53±2.06)μmol/L]增高,差异有统计学意义(P<0.01)。MTHFR677位点一个和(或)两个等位基因C→T的变异,不论在病例组还是对照组均可引起HCY水平的显著增加(P<0.01)。同为MTHFR677CC基因型,病例组中的血浆HCY浓度仍较对照组增高(P<0.01),这种增加不依赖于MTHFR的基因型。结论血浆HCY和叶酸代谢相关基因的遗传多态性是汉族妇女生育DS患儿的危险因素。     

血浆同型半胱氨酸水平与脑梗死和脑溢血的关系

目的:测定脑梗死和脑溢血患者及正常对照者血浆同型半胱氨酸(HCY)、叶酸(Fa)、维生素B12 (VitB12),探讨其浓度对脑梗死和脑溢血的影响关系。方法:正常对照者来自本院体检,脑梗死及脑溢血患者, 经头颅CT或MRI确诊,用荧光偏振免疫技术(FPIA)分析血浆同型半胱氨酸和用免疫荧光技术检测Fa、 VitB12。结果:脑梗死和脑溢血患者的HCY均高于对照组,与对照组存在着非常显著性差异(P<0.01);脑梗 死和脑溢血患者的Fa、VitB12均低于对照,与对照组存在着非常显著性差异(P<0.01);脑梗死和脑溢血患者之 间三项指标无显著性差异。结论:血HCY、Fa、VitB12水平在脑梗死和脑溢血患者的病程中存在着重要的作用。     

血浆同型半胱氨酸水平与血管性痴呆的关系

目的探讨血浆同型半胱氨酸(Hcy)与血管性痴呆(VD)脑梗死患者的关系。方法采用高效液相色谱分析法测定68例VD脑梗死及34例非痴呆脑梗死患者的血浆总Hcy水平。结果VD组患者的平均血浆总Hcy水平为(21.34±10.56)μmol/L,非痴呆组血浆Hcy水平为(9.78±8.56)μmol/L,VD组显著高于非痴呆组,两组差异有统计学意义(P<0.01)。66.2%VD脑梗死患者的血浆总Hcy水平升高,非痴呆组仅为27.3%,差异有统计学意义(P<0.01)。结论高Hcy血症可能是血管性痴呆(VD)危险因素之一。     

MTHFR基因C677T多态性与冠心病患者血浆同型半胱氨酸和叶酸水平相关

目的研究宁夏地区汉族人群5,10-亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性、同型半胱氨酸水平(Hcy)及叶酸水平与冠心病(CHD)的相关性。方法用病例-对照研究方法、应用限制性片段长度多态性扩增技术(PCR-RFLP)分析宁夏地区汉族202例冠心病患者及199例正常人群MTHFRC677T基因型频率及基因频率的分布特点。荧光偏振免疫分析法测定血浆Hcy水平,化学发光免疫分析法测定血清叶酸、VitB12浓度。结果 (1)病例组与对照组MTHFRC677T基因型频率分别为CC型23.3%vs20.7%、CT型52.3%vs54.5%和TT型24.4%vs24.8%,两组间基因型及等位基因频率分布无差异。(2)冠心病患者组中MTHFR基因C677TCC基因型患者血浆Hcy浓度(10.84μmol/L)较T基因携带者(12.24μmol/L)低(P<0.01)。CC基因型患者血浆叶酸浓度(5.38μg/L)较T基因携带者(3.72μg/L)高(P<0.05)。结论 MTHFRC677T的3种基因型频率在宁夏汉族冠心病患者和正常人群中的分布无统计学意义。MTHFR基因C677T多态性与冠心病的危险因素Hc...     

200例脑卒中患者高同型半胱氨酸血症发生率及多危险因素分析

分析脑卒中患者高同型半胱氨酸(Hcy)血症的发生率及其意义.选择脑卒中患者200例,分为脑梗死组120例,脑出血组80例,健康人100名(对照组),测定其Hcy、FIB、CRP、CHOL、TG、LDL-C、HDL-C的水平.脑梗死组和脑出血组的Hcy含量分别为20.56±9.73μmol/L、19.67±9.05μmol/L,与对照组(12.41±4.87μmol/L)相比显著升高,具有统计学意义(P＜0.01).脑梗死组和脑出血组的血浆FIB含量分别为4.17±0.71g/L、4.11±0.67g/L,与对照组(2.58±0.57g/L)相比显著升高, 具有统计学意义(P＜0.01).但脑卒中组CRP、CHOL、TG、LDL-C、HDL-C水平与对照组比较,差异无统计学意义(P＞0.05).脑梗死组和脑出血组高同型半胱氨酸血症发生率均高于对照组,具有统计学意义(P＜0.01).高同型半胱氨酸血症是脑卒中的独立危险因素, 高同型半胱氨酸致血浆纤维蛋白原升高,是造成脑梗死患者血液粘度升高的主要原因.     

叶酸对冠心病患者不对称二甲基精氨酸和同型半胱氨酸的影响

目的探讨叶酸对冠心病患者不对称二甲基精氨酸(ADMA)和同型半胱氨酸(Hcy)的影响,为冠心病的治疗提供新的依据。方法冠心病患者70例,分为叶酸组36例,予以叶酸5mg,3次/日;非叶酸组34例,不加用叶酸;健康体检者22例为对照组。测定其血清ADMA、Hcy、VB12和叶酸以及血糖、血脂等。结果6个月后,叶酸组的血清叶酸由(8.26±3.03)μg/L增至(12.88±7.25)μg/L,Hcy由(32.91±16.06)μmol/L降至(23.55±6.01)μmol/L,前后比较均有显著性差异(P<0.05);而ADMA和VB12无显著变化(P>0.05)。结论补充叶酸能改善冠心病患者的低叶酸状态和高同型半胱氨酸血症,而对ADMA则无显著影响。     

同型半胱氨酸和MTHFR基因多态性与Alzheimer病的关系

目的探讨同型半胱氨酸(Hcy)和5,10 亚甲基四氢叶酸还原酶(MTHFR)基因多态性与Alzheimer病的关系.方法运用多聚酶链反应限制性内切酶片段长度多态性技术(PCR RFLP)和荧光偏振法(FPIA)检测66例阿尔茨海默病及143例正常人MTHFR基因多态性和血浆总Hcy水平.结果 (1)AD病人甲基四氢叶酸还原酶基因中,基因型C/T占56.06%,明显高于对照组的34.97%(P<0.01,RR=0.355),C/C占39.39%,明显低于对照组的62.94%(P<0.01),T/T占4.25%,与对照组2.09%无明显差异(P>0.05). AD病人中甲基四氢叶酸还原酶基因等位基因C的频率为67.43%、相对危险率(RR)为0.594,T的频率为32.57%、与对照组的C为80.42%、T为19.58%有显著性差异(P≤0.05).(2)AD病例组与对照组血浆Hcy分别为14.72±6.2μmol/L和10.9±2.4μmol/L,两者差异有显著差异(P<0.05).AD患者血浆总Hcy水平显著高于正常组.结论 MTHFR基因突变及高同型半胱氨酸血症与Alzheimer病发生有一定关系.     

慢性肾衰竭血液透析患者血浆同型半胱氨酸的测定及其临床意义

目的研究同型半胱氨酸(Hcy)水平在慢性肾衰竭(CRF)诊断和治疗中的应用。方法采用免疫比浊发测定32例CRF患者血液透析前后的血浆Hcy和42例健康人血浆Hcy的含量，并进行统计分析。结果①维持性血液透析尿毒症患者血浆同型半胱氨酸水平透前及透后均明显高于正常对照组；②透析后血浆同型半胱氨酸水平较透析前有所下降﹙<0.01)，但不能降至正常。结论维持性血液透析尿毒症患者血浆同型半胱氨酸水平高于正常人，血液透析对同型半胱氨酸有清除作用，但不能使同型半胱氨酸水平降至正常。     

高同型半胱氨酸血症与脑梗死的相关性分析

目的 观察高同型半胱氨酸血症与脑梗死(CI)的相关性.方法 对103例脑梗死患者及112例健康体检者进行血浆同型半胱氨酸(Hcy)检测,比较两组血浆Hcy水平的差异,并分析其与脑梗死的关系.结果 脑梗死患者血浆Hcy水平平均为16.43±3.07μmol/L,健康体检者血浆Hcy水平平均为10.02±1.87μmol/L.结论 脑梗死患者血浆Hcy水平明显高于正常人,因此高同型半胱氨酸血症可能是脑梗死的危险因素,并且降低血浆Hcy水平可能减少和延缓脑梗死疾病的发生发展.     

亚甲基四氢叶酸还原酶G1793A多态性与反复妊娠丢失相关性研究

目的检测反复妊娠丢失妇女中血浆同型半胱氨酸水平(homocyste ine,Hcy)及亚甲基四氢叶酸还原酶(m ethylenetetrahydrofolate reductase,MTHFR)G1793A的多态性.方法选择不明原因的反复妊娠丢失达2次或3次以上妇女71例,有正常分娩史妇女93例作为对照组。用全自动荧光免疫分析仪测定同型半胱氨酸水平。MALD I-TOF质谱检测技术检测MTHFR G1793A的多态性。结果妊娠丢失妇女同型半胱氨酸水平明显高于正常对照组,分别为(14.58±8.45)μmol/L和(7.48±2.95)μmol/L,P<0.05。G1793A等位基因突变在患者组和对照组分别为22%,3.8%,差异有显著性(P<0.05,RR 3.48)MTHFR G1793A多态性的同型半胱氨酸水平无显著差异。结论反复妊娠丢失与高半胱氨酸血症密切相关,在中国MTHFR G1793A突变可能是反复妊娠丢失独立的危险因素。但MTHFR G1793A突变与高半胱氨酸血症未证实有相关性。     

Level of functioning of siblings and parents of probands of varying degrees of retardation

A further analysis of already published data supports the position that retardates of low ability level less frequently have retarded siblings, retarded parents, and parents low in occupational level than do retardates higher in ability level. The analysis supports the position that there are two types of retarded individuals, persons retarded as a result of gene or chromosomal anomalies, brain injury, etc., who more frequently occur in the lower-level retardate group, and persons whose retardation represents polygenic segregation, who more frequently occur in the higher-level group.     

局部注射辛伐他汀对骨质疏松大鼠股骨髁骨小梁的改建效应

背景：局部注射具有成骨作用的辛伐他汀,可显著增加骨质疏松大鼠股骨颈及股骨髁部的骨密度及力学强度,分析局部注射辛伐他汀对股骨髁骨小梁的影响。 目的：进一步研究骨质疏松大鼠股骨内局部注射辛伐他汀对股骨髁骨小梁的影响。为将辛伐他汀应用于临床骨质疏松局部治疗提供实验基础。 方法：18只雌性SD大鼠双侧卵巢切除后3个月,制备大鼠骨质疏松模型。实验大鼠随机数字表法均分为3组,分别在实验大鼠的右侧股骨髓腔内单次注射辛伐他汀溶液5 mg、10 mg,对照组单纯注射空白载体。分别在注射后1个月处死大鼠并取材。Micro-CT扫描并定量分析骨组织形态变化。 结果与结论：给药后1个月,Micro-CT扫描结果显示,辛伐他汀治疗组的骨微结构参数如骨皮质厚度、骨小梁密度及连接率明显优于对照组。说明疏松骨骼单次注射小剂量辛伐他汀可显著促进股骨髁部骨小梁改建,改善骨骼微结构,可为强化局部、防治骨质疏松骨折的新选择进一步提供实验基础。     

石斛属民族药用植物的分类及生药学研究

中药石斛早在《神农本草经》中就被列为上品,其应用历史悠久,具有养阴生津、补肾益气、润喉护嗓、活血明目、抗癌防老等功效。本文对国内外石斛属民族药用植物的分类及生药学研究进行了综述。     

膝关节骨性关节炎的关节镜治疗体会

目的我科自2001～2005年4月对59例67膝的骨性关节炎（0A），进行关节镜检查及镜下清理术。方法镜检：膝关节骨性关节炎伴不同程度滑膜炎，滑膜皱壁粘连纤维片，关节软骨不同程度破坏。镜下清除增生滑膜，松解粘连，去除剥脱软骨、修复关节面。结果随访2月～4年，平均1.5年，术后综合评估2月～1年，优良率94％；1～2年，优良率79.2％；2年以上优良率54.8％。结论关节镜对膝关节骨性关节炎诊断能提供了比较全面的资料，并对骨性关节炎早期有良好疗效，具有创伤小、恢复快、并发症少和重复治疗等优点。     

Anatomical study of distribution of valves of the cutaneous veins of adult''s limbs

Since the cutaneous veins of the four limbs have been used as autogenous grafts in the treatment of cardiovascular disorders, knowledge of distribution of the valves is increasingly required depending upon the use. In the gross anatomical study of distribution of valves of the trunci venae, there has been argument about locational relationships between the venous roots and the valves in the vicinity of the roots and the inter-valvular distance. However, there have been only few reports discussing detailed information about valves of the cutaneous veins of the four limbs. The authors observed patterns of distribution of the cutaneous venous valves of the four limbs of cadavers prepared for practice in anatomy. The following parts were excised from each cadaver: the cephalic, basilic, and the great saphenous veins, which originate from the acral venous network and flow into the proximal deep veins, and the venous roots communicating with these veins. An incision was made on each excised vein in the direction of the long axis under observation with a stereoscopic microscope, and the inter-valvular distance and the distance between the valve and the orifice of venous root in the vicinity of the valve were measured. The inter-valvular distance varied with type of the truncus venae, and it varied according to area even in the same truncus venae.     

Pathways of the realization of immunomodulating effects of neurotransmitters

Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 115, N ^o 4, pp. 401–404, April, 1993     

Characterization of sterols of three digenetic trematodes of buffalo

Sterols of three digenetic trematodes were isolated and characterized by infrared and 1H nuclear magnetic resonance spectroscopies, and gas-liquid chromatography and gas chromatography-mass spectrometry. Sterols identified were cholesterol, cholestanol, 24-methylcholesterol, 24-methylcholestanol, 24-ethyl-22-dehydrocholesterol, 24-ethyl-22-dehydrocholestanol, 24-ethylcholesterol and 24-ethylcholestanol.     

Mechanisms of generation of slow components of bioelectric activity in diagnostics of functional state of the gastrointestinal tract

New electrophysiologic devices were used for the diagnostics of the state of excitable structures in the gastrointestinal tract and correction of their motor functions. Bioelectrical and biomechanical activities form the basis of functioning of internal organs. The mechanisms of generation of slow bioelectrical activity that are important for clinical and physiological studies are described. One of these mechanisms is a capacitance parametric transducer converting the energy of contractions into specific electric signals reflecting muscle functions. Another mechanism results from slow oscillations of resting potentials of interrelated excitable cells in large neuromuscular structures of internal organs. The elaborated procedure is efficient for preventing early postoperative paresis of the gastrointestinal tract. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 128, No. 10, pp. 448–452, October, 1999     

胃小弯侧血管弓的MDCT解剖

目的：研究正常胃小弯侧血管弓及其属支血管的多排螺旋CT表现。方法：回顾性分析51例正常成人的上腹部CT资料,观察胃小弯侧血管弓及其属支血管的显示情况、血管弓形态及其与胃壁的关系。结果：51例均显示胃小弯侧血管弓,血管弓贲门部属支、胃体部属支和幽门部属支分别显示46例、15例和10例;血管弓与胃壁紧邻41例。结论：MDCT检查可良好显示正常胃小弯侧血管弓及其属支血管。     

Assessment of the efficacy of treatment of hemangiomas

Assessment of the aftereffects of cryoexposure and ultrahigh-frequency cryoexposure on hemangioma tissue of various types, cavernous and squamous, showed a higher cryogenic effect in hemangiomatous tissue preexposed to ultrahigh-frequency waves. A quantitative criterion is proposed for assessing the efficacy of the studied methods of exposure. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 119, N ^o 6, pp. 669–672, June, 1995