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首页> 外文期刊>The Turkish journal of pediatrics >Apolipoprotein E allelic variants and cerebral palsy
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Apolipoprotein E allelic variants and cerebral palsy

机译:载脂蛋白E等位基因变体和脑瘫

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Cerebral palsy (CP) is the most frequent cause of mobility restriction and posture disturbance in childhood. Against the complexity in disease etiology, genetic factors, including Apolipoprotein E allelic distribution in this patient population, are worthy targets for investigation. ApoE is a lipoprotein of central nervous system encoded by ApoE gene with its 3 main co-dominant alleles, 2, 3 and 4. We aimed to evaluate the allelic frequencies of ApoE gene and its association with coexisting clinical entities such as vision and hearing impairment, cognitive problems, seizures and MRI findings in a pediatric patient population native to middle Anatolian region. Seventy-eight children with CP and 60 healthy controls were genotyped. Genotypic variations along with coexisting clinical conditions and CP-related medical findings were compared between the patient and control groups. The Denver Developmental Screening Test for all, the Wechsler Intelligence Scale for Children-IV (short form WISC-IV; Turkish version) for the patients >6y and the Stanford-Binet Intelligence Scale (SB-5) for those who aged 2-6 years old were employed to evaluate cognitive and mental abilities of the patients. ApoE 2 and 4 alleles were more frequent in the patient group (p<0.05), whereas ApoE 3 allele was more frequent in the healthy controls. ApoE 2/4 genotype has been determined 29% in the case group, but none in healthy control group. In the patient group with apolipoprotein 4 or 2 alleles, the rate of emergency cesarean section was found being significantly higher than the group with 3 allele. Brain MRI findings were not significantly different among ApoE allelic variants within the patient group. Our data show that the ApoE alleles may be effective in the development of cerebral palsy and may be associated with some clinical manifestations in those patients.
机译:脑瘫(CP)是儿童时期移动限制和姿势干扰最常见的原因。针对疾病病因的复杂性,遗传因素,包括该患者人群的载脂蛋白e等位基因分布,是有价值的调查目标。 Apoe是由Apoe基因编码的中枢神经系统的脂蛋白,其3个主要共同主导等位基因,2,3和4.我们旨在评估ApoE基因的等位基因频率及其与视力和听力障碍等共存临床实体的关系,在河内地区的儿科患者群体中的认知问题,癫痫发作和MRI调查结果。七十八名患有CP和60名健康对照的儿童进行了基因分型。在患者和对照组之间比较基因型变异以及共存临床条件和CP相关的医学结果。丹佛的发展筛选测试,为儿童IV(短款WISC-IV;土耳其语版本)为患者的威斯勒智力规模> 6Y和斯坦福-Binet智力量表(SB-5)为2-6岁的人岁月用于评估患者的认知和心理能力。患者组中的ApoE 2和4等位基因更频繁(P <0.05),而Apoe 3等位基因在健康对照中更频繁。 Apoe 2/4基因型已在案例组中确定29%,但没有在健康对照组中。在具有载脂蛋白4或2个等位基因的患者组中,发现急诊剖宫段的速率显着高于3等位基因的组。患者组内的Apoe等位基因变异中脑MRI发现没有显着差异。我们的数据表明,ApoE等位基因在脑瘫的发展中可能是有效的,并且可能与这些患者的一些临床表现有关。

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