排序方式: 共有32条查询结果,搜索用时 15 毫秒
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目的 探讨新一代基因测序平台(HiSeq2000)在甲基丙二酸血症(MMA)诊断中的价值.方法 1.采集已经临床确诊的9例MMA患儿外周血并提取DNA,将设计好的基因捕获探针与患儿DNA文库混合,然后利用基因捕获联合高通量测序分析技术对有机酸代谢相关的48个基因全部外显子区域进行测序.2.获得原始数据,去除接头和过滤低质量数据,对数据进行SNP、InDel等分析,并采用Sanger测序方法对异常位点进行测序验证.3.气相色谱-质谱联用分析技术对尿液标本的有机酸测定及其他辅助检查.结果 1.突变基因:7例存在MMACHC基因突变,7例患儿中共检测出7种突变,包括c.482G>A、c.567_568insT、c.609G>A、c.440_ 441del、c.80A>G、c.315C>G、c.90G>A,其中c.440_441 del为未见报道突变;1例存在甲基丙二酰辅酶A变位酶(MUT)基因突变,均为内含子异常,分别是c.754-1G>C、c.1677-1G>A,其中c.754-1G>C为未见报道突变;1例未检测到突变.2.临床症状:9例患儿均存在智力运动发育迟缓,伴抽搐3例,反复顽固性代谢性酸中毒、头痛及面瘫、反复性溶血各1例.脑电图异常9例,头颅磁共振异常8例,尿液中甲基丙二酸水平均升高(273.4 ~146 022.8倍),血同型半胱氨酸水平增高8例(27.13~ 396.84 μmol/L,正常<20 μmol/L).3.Sanger测序验证:均符合新一代测序平台结果,无假阳性存在.结论 1.进一步证明c.609G>A突变位点为中国MMA合并同型半胱氨酸血症患儿的热点突变位点.MMA基因突变类型较多,与临床症状无明显相关性.2.推测MMACHC基因c.440_441 del突变及MUT基因c.754-1G>C突变为新发突变.3.基因捕获联合高通量基因测序技术一次性捕获突变基因数量大,获取疾病的遗传信息量广,具有高通量、高灵敏度、高效等特点,适合于MMA患儿检测,也可为其他儿科临床常见遗传性疾病的检测提供参考. 相似文献
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一例甲基丙二酸血症合并同型半胱氨酸血症cblX型患儿在婴儿早期出现局灶性癫痫发作和癫痫性痉挛发作,多种抗癫痫药物治疗效果不佳,患儿于4月龄时死亡。新生儿筛查和急性发作期串联质谱法检测均未见明显异常,超高效液相色谱 - 串联质谱法检测提示血甲基丙二酸和同型半胱氨酸增高,全外显子组测序显示 HCFC1基因存在c.202C>G(p.Q68E)半合子突变,遗传自其母亲。 相似文献
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目的探讨载脂蛋白A5基因(APOA5)-1131T/C基因多态性与糖尿病肾病患者同型半胱氨酸和脂蛋白a水平的相关性。方法用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术检测40例健康人及45例糖尿病肾病患者APOA5-1131T/C基因型,并统计等位基因频率分布情况;用奥林帕斯2700型全自动生化分析仪检测同型半胱氨酸和脂蛋白a水平。结果糖尿病肾病组APOA5-1131T/C基因频率、等位基因频率与对照组差异无统计学意义(P〉0.05)。糖尿病肾病组C等位基因携带者同型半胱氨酸和脂蛋白a水平显著高于非C等位基因携带者(P〈0.05)。结论APOA5-1131T/C基因多态性影响糖尿病肾病患者同型半胱氨酸和脂蛋白a水平,C等位基因与糖尿病肾病同型半胱氨酸和脂蛋白a水平增高有密切关系。 相似文献
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V. Spagnoli M. Diefenbronn B. Merat D. Logeart G. Sideris P. Henry S. Manzo-Silberman L. Drouet J.G. Dillinger 《Annales de cardiologie et d'angeiologie》2019,68(2):98-106
Background
Coronary lesions characteristics as well as patient thrombogenicity can explain coronary events manifestation. In young patient, local conditions are usually less important and thrombogenicity could play a significant role. Assessing thrombophilia could be justified in young patients and may induce an adapted therapeutic management.Purpose
We aimed to assess the prevalence of thrombophilia and therapeutic modification in young adults aged ≤ 55 years admitted in our department for ST elevation myocardial infarction (STEMI).Methods
From January 2013 to January 2017, data on all patients aged ≤ 55 years with STEMI admitted in emergency were retrospectively retrieved from our database. Thrombophilia investigation was made regarding clinical (with or without cardiovascular risk factors [CVRF]), biological and/or angiographic evaluation.Results
A total of 133 patients aged ≤ 55 years with STEMI were included. Cardiac arrest occurred in 15 patients (11%). One or less CVRF were found in 47 patients (35%). Smoking was reported in 93 patients (70%) and drug addiction (cannabis, cocaine) in 19 patients (14%). A subset of 51 patients (38%) were screened for thrombophilia. Patients with thrombophilia assessment were younger, less active smokers and presented less CVRF than patients without investigation (P < 0.001). Single vessel diseased was found in 88 patients (66%). No differences regarding coronary procedural characteristic were found between the two groups. The most frequently encountered aetiology, found in 122 patients (92%), was de novo intra-arterial thrombosis related to atherosclerosis. In patients with thrombophilia assessment (n = 51), one or more abnormal biological results was found in 22 patients (43%) and a therapeutic adjustment was made in 6 patients (12%).Conclusion
Thrombophilia screening in young STEMI adults showed an abnormality in 43% of cases. Antithrombotic treatment can be modified after its demonstration. 相似文献8.
Biagini MR Tozzi A Marcucci R Paniccia R Fedi S Milani S Galli A Ceni E Capanni M Manta R Abbate R Surrenti C 《World journal of gastroenterology : WJG》2006,12(10):1607-1612
AIM: To assess the hypercoagulability in PBC and its relationship with homocysteine (HCY) and various components of the haemostatic system. METHODS: We investigated 51 PBC patients (43F/8M; mean age: 63±13.9 yr) and 102 healthy subjects (86 women/16 men; 63±13 yr), and evaluated the haemostatic process in whole blood by the Sonoclot analysis and the platelet function by PFA-100 device. We then measured HCY (fasting and after methionine loading), tissue factor (TF), thrombin-antithrombin complexes (TAT), D-dimer (D-D), thrombomodulin (TM), folic acid, vitamin B6 and B12 plasma levels. C677T 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphism was analyzed. RESULTS: Sonoclot RATE values of patients were significantly (P< 0.001) higher than those of controls. Sonoclot time to peak values and PFA-100 closure times were comparable in patients and controls. TAT, TF and HCY levels, both in the fasting and post-methionine loading, were significantly (P< 0.001) higher in patients than in controls. Vitamin deficiencies were detected in 45/51 patients (88.2%). The prevalence of the homozygous TT677 MTHFR genotype was significantly higher in patients (31.4%) than in controls (17.5%) (P<0.05). Sonoclot RATE values correlated significantly with HCY levels and TF. CONCLUSION: In PBC, hyper-HCY is related to hypovitaminosis and genetic predisposing factors. Increased TF and HCY levels and signs of endothelial activation are associated with hypercoagulability and may have an important role in blood clotting activation. 相似文献
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目的 用Meta分析的方法研究血同型半胱氨酸水平与多发性硬化症(MS)的关系并初步探讨其可能机制.方法 收集Medline 和中国期刊网的关于血同型半胱氨酸、维生素B12、叶酸与MS的相关文献,并分别对其进行Meta 分析.结果 分别有10篇、10篇、8篇文献进入血同型半胱氨酸、血维生素B12、血叶酸与MS关系的Meta 分析.结果 显示与对照组相比MS患者血同型半胱氨酸水平显著升高,而血维生素B12、叶酸水平无明显差异.结论 MS患者可能存在不伴维生素B12、叶酸缺乏的高同型半胱氨酸血症,可能在其病理过程中发挥作用. 相似文献
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目的 探讨慢性肾功能衰竭(chronic renal failure,CRF)患者同型半胱氨酸(homocysteine,Hcy)血浆水平变化及临床意义.方法 采用酶循环速率法对88例CRF患者和25例正常对照人群的Hcy血浆浓度的检测并进行比较分析.结果 CRF患者Hcy血浆浓度明显高于对照组(P<0.05),随着慢性肾功能衰竭的加重,Hcy血浆浓度也相应的升高.CRF患者血浆Hcy浓度与血肌酐水平呈正相关(P<0.001),与肌酐清除率水平(P<0.001)呈负相关,而与叶酸、维生素B12等生化指标均无明显相关.CRF患者血浆叶酸、维生素B12水平与对照组无明显差异.结论 CRF患者普遍存在高Hcy血症,其水平与血肌酐水平呈正相关,可能与肾小球滤过率降低、对同型半胱氨酸清除减少有关,检测血浆Hcy浓度对了解CRF患者病情具有重要意义. 相似文献