Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia / 中华医学遗传学杂志

Objective@#To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.@*Methods@#Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.@*Results@#The two children were found to respectively harbor a c. 282dupA and a c. 715_716dupCC variant in exon 2 of the PRRT2 gene, which were both inherited from their mothers. Pooling together their frequencies in general population, genetic models, related literature and impact on protein function, the two novel variants were both predicted to be pathogenic.@*Conclusion@#The c. 282dupA and c. 715_716dupCC variants probably underlie the disease in the two children.

Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia / 中华医学遗传学杂志

OBJECTIVE@#To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.@*METHODS@#Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.@*RESULTS@#The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in exon 2 of the PRRT2 gene, which were both inherited from their mothers. Pooling together their frequencies in general population, genetic models, related literature and impact on protein function, the two novel variants were both predicted to be pathogenic.@*CONCLUSION@#The c.282dupA and c.715_716dupCC variants probably underlie the disease in the two children.

Effect of aspirin combined with clopidogrel in the treatment of patients with cerebral infarction of middle cerebral artery stenosis / 中国基层医药

Objective To analyze the effect of aspirin combined with clopidogrel in the treatment of patients with cerebral infarction of middle cerebral artery stenosis.Methods 88 patients with cerebral infarction of middle cerebral artery stenosis were selected and divided into group A and B based on the methods of treatment,44 patients in each group.Patients in group A were given aspirin, and patients in group B were given aspirin combined with clopidogrel.The effects of the group A and B were observed and compared.Results The total effective rate of group B was 90.91%,which was higher than 75.00%(33/44) of group A,the difference was statistically significant(χ2 =3.938,P<0.05).The progression rate and relapse rate of group B were 6.82%and 4.55%,which were lower than 27.27%and 20.45%of group A,and the differences were statistically significant(χ2 =7.639,5.091,all P<0.05). The scores of modified Barthel Index and modified Fugl-Meyer in group B were all better than the scores in group A after treatment,and the differences were statistically significant(all P<0.05).Conclusion It is effective for aspirin combined with clopidogrel to treat the patients with cerebral infarction of middle cerebral artery stenosis,which can decrease the rate of progression and relapse,and worthy of clinical application.