共查询到20条相似文献,搜索用时 93 毫秒
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目的探讨线粒体tRNA^leu(UUR)基因3243(A→G),3256(C→T),3290(T→C)3个位点的突变与武汉地区2型糖尿病的关系。方法采用聚合酶链反应.限制性片段长度多态性(PCR-RFLP)对326名个体(156例2型糖尿病患者,170例健康对照)的线粒体tRNA^leu(UUR)基因3243(A→G),3256(C→T),3290(T→C)3个位点进行筛选,对突变位点用直接测序方法进行确证。结果两组均未检出3243(A→G),仅在糖尿病组检出3290(T→G)和3256(C→T)突变各1例。两组间突变频率差异无统计学意义。结论线粒体tRNA^leu(UUR)基因3243(A→G),3256(C→T),3290(T→C)突变可能不是武汉地区2型糖尿病的突变热点。 相似文献
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目的:以随机选取宁夏回族无血缘关系的63例糖尿病患者(糖尿病组)及77例健康个体(正常对照组)为研究对象,调查该人群中线粒体基因突变与2型糖尿病的关系.方法:采用聚合酶链式反应-限制性片段长度多态检测技术(PCR-RFLP)对线粒体基因位点(mtDNA3243、3316、3394、3426、3593)突变类型进行检测,并采用X2检验,比较mtDNA突变类型在两组间分布的差异,从而得出宁夏地区回族人群2型糖尿病与mtDNA突变的相关性.结果:在糖尿病组与正常对照组中均未发现mtDNA3243、3593、3426位点的突变.在糖尿病组中3316位点(G→A)突变频率为1.587%(1/63),正常对照组中该位点突变频率为3.896%(3/77);糖尿病组中未发现3394(T→C)突变,正常对照组中该住点突变频率为3.896%(3/77).以上位点的突变频率在两组间经X2检验,差异无统计学意义(P>0.05).结论:宁夏地区回族人群2型糖尿病与mtDNA3243、3316、3394、3426、3593位点的突变均无相关性. 相似文献
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目的研究线粒体DNA(mtDNA)16S rRNA基因(T3200C、C3206T)和ND1基因(A4136G、A4164G和T4216C)突变在湖北汉族2型糖尿病人群中的发生率及临床意义。方法采用等位基因特异性PCR(AS-PCR)、PCR-限制性酶切片段长度多态性(PCR-RFLP)分析及PCR产物直接测序,对175例2型糖尿病患者和200例正常对照的线粒体基因突变进行检测,并用Primer、Antherprot和Mfold软件对检出的突变位点进行分析,对RNA突变后最小自由能下的二级结构变化和ND1基因突变后蛋白质的二级结构改变进行预测。结果2型糖尿病组检出3200(T→C)突变2例(1.14%),3206(C→T)突变11例(6.28%),4216(T→C)突变3例(1.71%),4136位点未发现突变。发现2个未曾报道的新突变位点4164(A→G)7例(4.00%),4200(A→T)1例(0.57%)。对照组中检出3206(C→T)突变8例(3.92%),4164(A→G)突变5例(2.45%),两位点突变率在两组中比较差异无显著性(P>0.05)。RNA二级结构预测显示3200(T→C)突变引起16S rRNA基因最小自由能和二级结构的改变,可能引起疾病。4164(A→G)和4200(A→T)突变分别为Met和Leu的无义突变,4216(T→C)突变可使线粒体呼吸链中一个中性酪氨酸被亲水性组氨酸取代,蛋白质二级结构预测显示该突变可引起NDl蛋白质二级结构改变。研究还显示线粒体基因突变率在≥40岁个体呈上升趋势。结论mtDNA 3200(T→C)和4216(T→C)突变可能增加糖尿病的易感性;3206(C→T)和4164(A→G)为基因多态性改变;4136位点未发现突变。以上结果提示糖尿病的发生在线粒体基因突变上存在一定的异质性。 相似文献
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线粒体tRNALeu(UUR)基因A3243G突变糖尿病家系的基因诊断 总被引:1,自引:0,他引:1
目的确认一个由线粒体tRNA^Leu(UUR)基因A3243G点突变引起的母系遗传糖尿病家系,并分析其临床特征。方法采用PCR产物直接测序法对53例无血缘关系的有家族史的2型糖尿病(T2DM)患者线粒体DNA(mitochondria DNA,mtDNA)片段(nt3153-nt3551)进行点突变筛选,然后对筛选到的A3243G异质性突变样本作DHPLC分析确认。详细调查此突变糖尿病家系发病特征,并做线粒体基因组全序列分析。结果在53例样本中检测到1例A3243G突变,对其家系调查发现7例母系成员中5例患病(1男4女),患者多数伴听力损害,体重指数减低,口服降糖药效果不佳最终需用胰岛素治疗,呈母系遗传,发病年龄不等,平均32.75岁。线粒体全基因组测序表明患者存在包括A3243G突变的共33个变异位点,但除A3243G突变外其余都不是进化上高度保守的位点,因此A3243G突变是与这个糖尿病家系发病有关的惟一的mtDNA突变。结论线粒体tRNA^Leu(UUR)基因A3243G突变是这个三代母系遗传糖尿病家系发病的原因,其临床特点是发病年龄轻、不胖、母系遗传、耳聋发生率和使用胰岛素比率高等。 相似文献
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目的探讨本地区汉族人群线粒体DNA ND1基因中T3394C突变与2型糖尿病(T2DM)的关系。方法应用聚合酶链反应(PCR)对无血缘关系的225例T2DM患者和190名正常对照者的外周血DNA进行PCR扩增并直接测序确证。结果糖尿病患者组中检出T3394C突变8例(3.56%),正常对照组检出1名(0.53%),2组间比较差异有统计学意义(P<0.05)。结论线粒体DNA T3394C突变可能与本地区汉族人群T2DM的发生有关。 相似文献
7.
张维延 《中国血液流变学杂志》2006,16(4):532-533
目的建立正常人血线粒体DNA中A3243G突变的检测方法。方法采集正常人血液标本,抽提DNA,设计两对启动-关闭引物,采用聚合酶链反应(PCR)扩增mtDNA的高变区I(HVI)3221-3524bp片段。结果正常人血DNA中检出A3243G突变。结论该方法可在正常人血DNA中检出A3243G突变,可作为一种临床检测方法用于人群早期检查。 相似文献
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目的探讨线粒体DNA(mtDNA)Cytb编码区14783T→C、15235A→G与2型糖尿病、2型糖尿病合并高血压病及肥胖的相关性。方法随机抽取大连地区153例无亲缘关系的2型糖尿病患者(T2DM)及198例无糖尿病的正常人作对照,采用聚合酶链式反应和限制性片段长度多态技术分析14783(T→C碱基突变)、15235(A→G碱基突变)的单核苷酸多态性。结果 1.mtDNA14783T→C变异在T2DM组和对照组分布频率分别为60.1%和59.1%(χ2=0.039,P=0.844),在肥胖亚组中分布频率分别为61.3%和59.0%(χ2=0.089,P=0.766),在高血压亚组中分布频率分别为62.5%和58.8%(χ2=0.207,P=0.649),经χ2检验均无显著差异。2.mtDNA15235A→G变异在T2DM组和对照组分布频率分别为2.6%和4.0%(χ2=0.532,P=0.466),在肥胖亚组中分布频率分别为2.6%和2.6%(χ2=0.002,P=0.968),在高血压亚组中分布频率分别为3.6%和2.1%(χ2=0.318,P=0.573),经χ2检验均无显著差异。结论 mtDNA14783T→C、15235A→G多态性可能与大连地区的T2DM不相关,也可能与大连地区的T2DM合并肥胖及高血压不相关。 相似文献
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福建畲族葡萄糖-6-磷酸脱氢酶基因突变型 总被引:4,自引:0,他引:4
目的研究福建畲族葡萄糖-6-磷酸脱氢酶(G6PD)基因突变型特点,调查其G6PD缺乏症发生率及基因频率。方法用硝基四氮唑蓝(NBT)纸片法进行G6PD缺乏症定性筛查,用突变特异性扩增系统、错配碱基PCR介导酶切位点/限制性内切酶图谱分析、聚合酶链反应.单链构象多态性分析(PCR-SSCP)和DNA测序进行基因突变型鉴定结果在1820名青水畲族和764名穆云畲族人中,分别发现101例和104例酶活性异常,两地的致病基因频率分别为0.0607和0.1706。在穆云乡54例纯畲族血缘的样本中,共检出nt1376G→T突变38例、nt1388G→A突变12例、nt95A→G突变6例,三种基因突变型分别占70.3%,18.5%和11.1%;并发现1例nt1376G→T复合nt95A→G突变、1例nt1376G→T复合nt1388G→A突变。在青水畲族中发现6例nt1024C→T突变,占8.6%;发现1例392G→T突变,结论①nt1376G→T、nt1388G→A是幅建畲族中主要的基因突变型,中华民族具有共同的G6PD基因突变型,因而可能源于共同的祖先。②在畲族人群中发现nt1376G→T、nt1388G→A、nt95A→G、nt1024C→T和nt392G→T 5种基因突变型。③发现nt1376G→T复合nt95A→G突变、nt1376G→T复合nt1388G→A突变④nt95A→G是穆云畲族中另一种常见的基因突变型;1024C→T是青水畲族中常见的一种G6PD基因突变型。⑤明确青水畲族中G6PD基因频率为0.0607,穆云畲族中为0.1706,为上述地区G6PD缺乏症的防治提供决策参考。 相似文献
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回顾在遗传性心律失常领域最新发表的相关研究,主要关注与儿童心源性猝死关系密切的离子通道病,包括长QT综合征(LQTS)、短QT综合征(SQTS)、Brugada综合征(BrS)和儿茶酚胺敏感性多形性室性心动过速(CPVT),总结它们在发病机制及诊治方面的进展。 相似文献
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Many investigators have stated that the difficulties of imaging with acoustical energy through the skull result from the marked attenuation of the energy by the skull. In the literature measurements of total attenuation have been confused with those for absorption.Measurements made by us show that absorption by compact bone varies between 2–3 dB cm?1 MHz?1 and, in the low megaHertz region appears to be directly proportional to frequency.It has also between shown that the convoluted inner surface of the ivory bone of the inner table of the skull may degrade the collimation and directionality of the beam by refraction.Cancellous bone, such as is present in the dipole of the skull, greatly attenuates the energy. It is postulated that this largely results from scattering. It is also postulated that the energy propagates through cancellous bone as two components, one in the soft tissues and the other partly in the bony spicules. Observations suggest that attenuation due to scattering much more markedly affects the latter of these components and scatters more greatly the higher frequencies in a pulse of broad bandwidth.The energy in each component has varying propagation paths so that the later cycles in the pulse of each component are subject to increasing interference as a result of the variations in propagation times. The two components moreover may have different propagation times so that interference may occur between the pulses of each component as well.All of these phenomena degrade the collimation, coherence, directionality, beam width, pulse length, frequency and other properties of the ultrasonic energy upon which imaging through the skull depends.The interference effects described above are least for the first cycle in the pulse which usually is not the cycle of highest amplitude. Since, in the free field, most of the energy is concentrated around the beam axis, most of the energy in the field which is deflected from its normal propagation path is deflected away from the beam axis. Thus the directionality of the beam is least degraded in the beam axis. The effects of the skull in degrading the properties of the ultrasonic pulse would therefore be lessened if the amplitude of the first cycle of the pulse and the directionality of its energy could be used for imaging. 相似文献
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目的 甲状旁腺功能减退(甲旁减)性心肌病是一种罕见的心脏疾病,为扩张型心肌病中少数可逆转的一种,常被误诊为不明原因或难治性心力衰竭。本文旨在探寻甲旁减性心肌病的规律性特征。方法 检索Pubmed、SinoMed、万方数据库中符合标准的甲旁减性心肌病病例,采用统计分组法对纳入研究的文献进行分析,依据系统综述和meta分析优先报告条目(PRISMA声明)进行报告。结果 在我们筛查出的41例患者中,女性居多(68.29%),平均年龄为45.5岁,各年龄段均有发病。甲旁减性心肌病最常见的病因为特发性甲旁减(78.05%),颈部手术导致的甲旁减性心肌病次之(17.07%)。患者均以心力衰竭就诊,伴不同程度的低钙血症。51%的患者有神经肌肉兴奋性增加的病史,90%的患者左心室射血分数降低。该病误诊漏诊率较高,仅36%的患者于入院后即明确诊断为甲旁减性心肌病。低血钙的纠正是治疗的关键,90%的患者心脏功能在血钙浓度正常化后恢复至正常。结论 对所有不明原因或难治性心力衰竭患者都应警惕甲旁减性心肌病的可能。 相似文献
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目的加强对家族性噬血细胞性淋巴组织细胞增生症(familially hemophagocytic lymphohistiocytosis,FHL)的认识。方法报道确诊为FHL的新病例1例,结合国内外报道的FHL的病例,对该病的临床特点进行汇总分析。结果FHL2常与PRF1基因突变相关,约20%~40%的患者存在穿孔素基因突变。结论对于有阳性家族史,基因诊断明确,应尽早行化疗或者造血干细胞移植。若无家族史,未发现与继发性HLH相关的原发病因,可考虑行基因筛查以明确是否存在FHL的可能。 相似文献
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动态心电图,又称Holter或Holter检查,是一种评价各种心脏病患者心电图异常的简便、高效、准确、安全的无创检查,广泛用于心律失常的相关症状评价,心肌缺血的诊断,心脏病患者的预后和日常生活能力评估,药物疗效评价,起搏器等埋藏式心脏电治疗装置监测等领域。目前动态心电图已广泛用于于临床各级医疗机构,为了更好地发挥其作用,有必要对该项技术进行规范化培训。本文参考相关指南、共识及专家建议,结合作者经验,撰写动态心电图临床操作标准化方法供临床使用时参考。 相似文献
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Sangeeta Patankar Poornima Venkatraman Gokul Sridharan Shubhada Kane 《World Journal of Clinical Cases》2015,3(12):1011-1016
Burkitt's lymphoma(BL) is an aggressive form of nonHodgkin's B-cell lymphoma with three variants namely endemic, sporadic, and immunodeficiency-associated types. It is endemic in Africa and sporadic in other parts of the world. While the endemic form is widely reported to occur in early childhood and commonly involves the jaw bones, the sporadic form typically presents as an abdominal mass. This presentation reports a rare case of sporadic form of BL clinically manifesting as a generalized gingival enlargement in an immunocompetent adult male which demonstrated an aggressive behavior. The patient reported with a prominent anterior gingival swelling of 6 mo duration which slowly enlarged in size and associated with multiple lymph node involvement. Microscopic examination of the lesion using H, E and immunohistochemical diagnosis confirmed the diagnosis as BL. The patient succumbed to the disease before any therapy could be instituted. Since a wide array of causes can be attributed to gingival enlargements, it is necessary to consider malignancies as one of the important differential diagnosis so as to facilitate the need for appropriate diagnosis and prompt treatment. 相似文献
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目的 通过对帕金森病患者及正常对照组进行经颅超声(transcranial sonography,TCS)检查,结合帕金森病患者的Hoehn Yahr(H Y)分级及帕金森病统一评分量表评分结果,了解我国大陆地区帕金森病患者有无黑质(substantia nigra, SN)回声增强表现。方法 对入选对象进行TCS检查,并对检查结果进行评价。结果 帕金森病患者 SN阳性率明显高于正常对照者(P<0.05)。帕金森病SN异常组 H Y 分期明显高于帕金森病SN正常组(P<0.05),表明帕金森病患者SN高回声面积与H Y分期相关。TCS检查对帕金森病的敏感性为80.5%,特异性为79.9%。结论 我国帕金森病患者SN强回声检出率显著高于对照组,说明我国帕金森病患者也存在SN回声增强这一现象,与国内外报道相一致。TCS检查对帕金森病的诊断具有一定的意义,敏感性及特异性较高。 相似文献
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Effects of intravenous anesthetic agents on middle cerebral artery blood flow velocity during induction of general anesthesia 总被引:2,自引:0,他引:2
Dr Achim Thiel MD Bernfried Zickmann MD Holger Roth Gunter Hempelmann MD 《Journal of clinical monitoring and computing》1995,11(2):92-98
Objective. Our objective was to quantify the effects of intravenous anesthetics on values measured by or derived from transcranial Doppler sonography (TCD) during induction of general anesthesia.Methods. We recorded blood flow velocity in the middle cerebral artery (V-MCA) before, during, and after induction of general anesthesia in six groups of young patients without intracranial pathology (n=10 each) using TCD. Patients were randomized to receive either 2 mg/kg propofol, 1.5 mg/kg methohexital, 5 mg/kg thiopental, 0.3 mg/kg etomidate, 2 µg/kg fentanyl and 0.15 mg/kg midazolam, or 1.5 mg/kg ketamine and 0.15 mg/kg midazolam intravenously. At 2 min after injection, each patient was intubated and given isoflurane 0.8% and nitrous oxide 66% in oxygen. Ventilation was set to achieve an end-tidalPco
2 of 40 mm Hg. V-MCA, arterial blood pressure, heart rate, hematocrit, andPco
2 (venous samples) were measured before and 1, 3, 5, 10, and 30 min after induction of anesthesia.Results. The preinduction data were not different between groups. At 1 min after injection, propofol, thiopental, methohexital, and etomidate significantly decreased V-MCA. TCD values were only slightly affected following fentanyl/midazolam. Ketamine/midazolam induced a modest rise in V-MCA. After endotracheal intubation, V-MCA increased in all groups, and slowly declined thereafter.Conclusions. Under the circumstances of our study, values derived from TCD measurements responded differently to the agents used to induce general anesthesia in nonneurosurgical patients. 相似文献
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目的 :比较吗啡、氯胺酮联合与吗啡单独使用用于术后镇痛的临床效果。方法 :30例ASAⅠ~Ⅱ的腹部手术全麻病人随机分为两组 ,术后使用吗啡静脉自控镇痛并分别加氯胺酮静脉输注 (氯胺酮组 )和生理盐水静脉输注(生理盐水组 )。观察两组的视觉模拟评分 (VAS) ,吗啡消耗量和发生的 相似文献
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目的探讨儿童中枢神经系统感染脑脊液病原菌的构成及耐药性。方法全自动细菌鉴定仪VITEK32进行细菌鉴定和药敏实验并结合K B药敏实验法,根据美国临床和实验室标准协会(CLSI)标准进行结果判读。结果住院患儿中枢神经系统感染脑脊液标本1 990份共分离病原菌181株,检出阳性率9.1%(181/1 990)。细菌检出率95.0%(172/181),真菌检出率5.0%(9/181),其中肺炎链球菌19.3%(35/181),表皮葡萄球菌18.8%(34/181),大肠埃希菌17.1%(31/181)。3种主要细菌的分离率较高,主要集中分布在1岁以内患儿。大肠埃希菌和肺炎克雷伯菌超广谱β内酰胺酶(ESBLs)检出率较高,分别为41.9%(13/31)和50.0%(3/6)。主要的革兰阴性细菌大肠埃希菌和肺炎克雷伯菌对厄它培南和亚胺培南耐药率为0,未发现耐万古霉素的革兰阳性细菌。结论对中枢神经系统感染患儿脑脊液进行培养和药敏实验,根据药敏结果合理选用抗生素,对降低细菌的耐药和提高药物的敏感性,临床合理使用抗菌药物有指导作用。 相似文献