44例颅脑外伤后神经症临床与脑电图关系探讨

本文初步探讨了44例颅脑外伤后神经症的临床与脑电图的关系。患者有神经、精神症状而无神经系统阳性体征,部分患者经CT等检查均属正常。脑电图异常者占18%,其异常是由颅脑损伤所致。在脑电图结论正常的病例中,有52%的患者显示α波的调幅,对称性较健康人差。呈“弥漫性α波表现。异常脑电图及弥漫性α波提示可能与大脑或丘脑下部功能轻度障碍有关,反之,则其临床症状与心理性因素有关,在诊治中应予区别对待。     

RESEARCH OF GENETIC POLYMORPHISM OF 5-HTT IN CHILDHOOD AUTISM

Objective To reveal the relationship between the 5-HTTLPR and the Chinese Han nationality children with CA, compared the distribution of the 5-HTTLPR between the Han Chinese children with CA and healthy Han Chinese children , and analyzed the association between the 5-HTTLPR and clinical symptoms of the Han Chinese children with CA. Methods Genomic DNAs of fifty subjects including 25 autistic children and 25 controls were extracted from blood samples. PCR amplification using Oligonucleotide primers flanking 5-HTTLPR was performed. Results① Three kinds of alleles including the S （short） allele, the L （long） allele and the VL allele were found , and the 5-HTTLPR genotypes shown were S/S, L/L, S/L and L/VL. ②Allele frequencies did not differ significantly in patient groups in comparison with the control sample. No significant difference was identified between the observed 5-HTTLPR genotype distribution of the patient groups and control group. ③The distribution of homozygons and heterozygous subjects between the two groups differed significantly. ④ The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor. ⑤ The allele frequency of healthy Han Chinese population and that of healthy Japanese population were similar. The frequency of S allele in not only autistic subjects but also healthy children in this study was considerably more than that in Caucasians and the frequency of L allele in our subjects decreased correspondingly. Conclusion ① A significant difference in the allele frequency between the Han Chinese and Caucasian populations was found. ② The genotypes of the 5-HTTLPR polymorphism correlated significantly with the Body Movement Factor of the patients. ③ The homozygote and the L allele were positively relevant to CA and they might be the risk factors of CA. The heterozygote and the S allele were negatively relevant to CA and they might be the protective factors of CA.     

先天性长QT综合征家系的临床特点

的　通过对 3个先天性长QT综合征 (longQTsyndrome,LQTS)家系的调查 ,研究其发病情况、临床和心电图特点 ,推测其相应的基因型。方法　按常规采集 3个家系成员的临床病史 ,进行体格检查 ,采集静息心电图 ,测量QT间期和较正的QT间期。结果　 3个家系 4 3例中有 15例LQTS患者 ,11例可疑诊断。临床表现和心电图各异。结论　家系 1、家系 2和家系 3中LQTS患者的临床和心电图表现符合LQT2、LQT1和LQT3,可能为HERG、KVLQT1、和SCN5A的基因突变所致。