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甲基化特异性PCR检测脆性X综合征患者FMR1基因甲基化的应用价值
脆性X综合征95%以上患者的致病分子机制是由于脆性X智力低下基因1(Fragile X mental retardation 1 gene,FMRI)5'端非翻译区一段不稳定的三核苷酸重复序列(CGG)异常扩增;和该基因上游启动子区域CpG岛的异常甲基化,使FMR1基因失活,而产生智力低下等系列脆性X综合征临床症状的疾病.我们用甲基化特异性PCR检测先天性智力低下患儿FMR1基因CpG岛的甲基化状况,并分析其在诊断脆性X综合征中的价值.现报告如下.
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FMR1基因突变与卵巢储备功能相关性的研究进展
脆性X智力低下(fragile X mental retardation 1,FMR1)基因又称家族性智力低下基因,位于染色体Xq27.3;1991年由Verkerk等[1]成功分离、克隆,并发现当FMR1基因5’端非翻译区(CGG)n重复序列异常扩增时,其蛋白产物——FMRP(主要在大脑和睾丸组织中表达)显著减少,揭示了脆性X综合征发生的分子机理.目前,国际上普遍认为,正常( CGG)n重复次数集中在29~30次之间,45 ~ 54次之间定义为中间带(intermediate),55 ~ 199次之间定义为前突变(premutation),>200次为全突变(full mutation).FMR1基因全突变携带者中,80%的男性和30%的女性会发生脆性X综合征[2].
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脑发育迟缓听障儿童的康复教育对策个案讨论
1儿童基本情况及主要问题行为描述1.1基本情况,见表1.1.2主要问题行为描述1.2.1配戴1年助听器,仍然对声音没有反应.配戴初期对电话铃声、敲门声有不稳定的反应,但目前观察不到这种现象.
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贴报-P1环境化学、物理和生物毒物及危害评价
Lead (Pb) is the heavy metal that has an effect on an irreversible mental retardation and brain development in newborn till the age of 2 year; therefore, World Health Organization has established a maximum allowance standard for blood lead in child at 10 μg·dL-1.
关键词: 环境化学 物理 生物 毒物 危害评价 mental retardation Heavy Metal -
Objective: To investigate the variations of contingent negative variation (CNV) of petients with mental retardation. Methods: The CNV was recorded in 16 children with mental retardation (MR) and 14 healthly age-matched controls. And CNV retest was carried out in 11 children with MR after one yeat treatment of Piracetam. Results: Compared with the normal control, the CNV of MR group showed prolonged postimperative negative variation (PINV) duration (P<0.01) and total A-C duration (P < 0.01), decreased amplitude B (P<0.01 ), and reduced preimperative A-S2 area (P<0.01). A comparison of the CNV of MR group was made between before and after one year treatment of Piracetam and no significant difference was found. Conclusions:The significant CNV variations were found in children with MR and these abnormal changes presisted throughout the Piracetam treatment.
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小儿精神发育迟滞合并癫痫的治疗
Objective To investigate the effective management approaches for mental retardation plus epilepsy in children.Method Sodium valproat[15~ 60 mg/( kg· day)] or nitrazepam[0.5~ 1 mg/( kg· day) ] and guanmaishu containing hyoscyamine(0.0045~ 0.045 mg/( kg· day)] as adjuvant were administered for 1.5~2 consecutive years.EEG,three dimensional Doppler ultrasonic examination of cerebral vessels were performed.Result Favorable therapeutic effect was obtained in 25 cases(48.1% ),good effect in 12 cases(23.1% ).Conclusion Favorable therapeutic effect of hyoscyamine in epilepsy is correlated with improved cerebral microcirculation,cortical choline receptor blocking ,reduced conduction between synapses.These factors all inhibit onset of epilepsy.
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特发性智力低下与染色体亚末端异常
智力低下(mental retardation,MR)又称精神发育迟滞,是由于中枢神经系统发育障碍而导致的一种多因性疾患.患者的智商低于70,临床主要表现为智力低下,社交、生活、学习障碍及心理发育迟缓.智力低下的发病原因极其复杂,大致归为遗传和环境两大因素.目前的实验条件下,有50%以上的MR病因不明,称为特发性MR(idiopathic mental retardation,I-MR).多项研究表明染色体亚末端DNA结构异常可能是导致I-MR的一个重要的原因.本文将就这一方面的研究现状作一介绍.
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RABL2B基因突变伴智能落后及多动症1例
1 临床资料患儿,女,7岁.因智力运动发育落后就诊.患儿呈中重度的智力障碍,4岁时测IQ值为29,5岁时IQ值为39.语言发育明显延迟,到6岁时只会说"爸爸、妈妈、再见"等简单词汇.运动发育落后,8个月时可在家长的帮助下坐起,17个月才学会独自走路.注意力不能集中,交流困难,有多动症表现.患儿的精神状态好,无抽搐发作,无发热、吐泻、嗜睡等小适,大小便正常,能自己控制.