ABSTRACT
Objective To explore the genetic characteristics in a Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE) and analyze the correlation between genotype and phenotype. Methods The natural history,clinical data and peripheral blood sample were collected in all patients and two healthy members of this ADLTE family.Whole exon sequence(WES)analysis strategy was used to explore the underlying mutations. Possible causative genetic variation was further confirmed by direct PCR and Sanger sequencing. The genotype-phenotype features were compared with previously reported cases. Results A novel pathogenetic LGI1 frameshift mutation p.T134fs was identified in this study. The clinical phenotype was different from reported. Conclusion This study reports a pathogenic LGI1 mutation in a Chinese ADLTE family for the first time, which suggests that LGI1 is a new genetic abnormality of ADLTE in Chinese.
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Objective To investigate the relationship between HBV DNA and HBsAg blood group model by analyzing the sero logical and DNA sequences of serum samples.Methods Blood samples from 54 patients were selected from this hospital,collecting blood samples;on the HBV DNA extraction,PCR amplification,purification of PCR products,DNA sequencing,HBV gene analysis and sequence,and the use of bioinformatics software.The results were analyzed and compared the gene mutation.Results The results of PCR amplification,54 specimens in 40 cases showed significant PCR was poor,14 specimens were able to observe the electrophoresis of PCR amplified 1 400 bp specific band;22 cases were HBsAg ELISA positive,14 cases of occult HBV positive,PCR positive amplification for genotype,B genotype accounted for in 81.82 ％ HBsAg ELISA,C gene in occult HBV positive accounted for 78.57％ (P＜0.05);occult HBV gene of 14 strains,6 cases in the S area of the area occurred in the gene sequence of point mutations,including 2 cases in 1 base point mutations,the other 3 cases of base point in 2 sites the emergence of mutation;3 cases of HBV genotype C infected gene point mutation,2 cases of genotype B infected gene point mutation;5 cases were in the 9 site of the "a" family decided to base mutation,A-C mutation.Conclusion Blood screening,detection showed HBsAg negative blood qualified,may still have occult HBV infection and missed the window period,were mainly C type,B type and mutant strain is relatively less,but the mutant is relatively high,may escape the existing screening reagent.
ABSTRACT
Objective To investigate the relationship between HBV DNA and HBsAg blood group model by analyzing the sero logical and DNA sequences of serum samples.Methods Blood samples from 54 patients were selected from this hospital,collecting blood samples;on the HBV DNA extraction,PCR amplification,purification of PCR products,DNA sequencing,HBV gene analysis and sequence,and the use of bioinformatics software.The results were analyzed and compared the gene mutation.Results The results of PCR amplification,54 specimens in 40 cases showed significant PCR was poor,14 specimens were able to observe the electrophoresis of PCR amplified 1 400 bp specific band;22 cases were HBsAg ELISA positive,14 cases of occult HBV positive,PCR positive amplification for genotype,B genotype accounted for in 81.82 ％ HBsAg ELISA,C gene in occult HBV positive accounted for 78.57％ (P＜0.05);occult HBV gene of 14 strains,6 cases in the S area of the area occurred in the gene sequence of point mutations,including 2 cases in 1 base point mutations,the other 3 cases of base point in 2 sites the emergence of mutation;3 cases of HBV genotype C infected gene point mutation,2 cases of genotype B infected gene point mutation;5 cases were in the 9 site of the "a" family decided to base mutation,A-C mutation.Conclusion Blood screening,detection showed HBsAg negative blood qualified,may still have occult HBV infection and missed the window period,were mainly C type,B type and mutant strain is relatively less,but the mutant is relatively high,may escape the existing screening reagent.
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Objective To investigate clinical effects and safety difference of cholesterol absorption inhibitor associated with atorvastatin for high dose on elderly patients with coronary heart disease and poor lipid controlling. Methods 240 elderly patients with coronary heart disease and poor lipid controlling were chosen and randomly divided into 3 groups including group A (80 patients)with atorvastatin for conventional dose,group B (80 patients)with atorvastatin for high dose and group C (80 patients)with atorvastatin for high dose associated with ezetimibe for cholesterol absorption inhibitor;and the compliance rate of total cholesterol (TC)and low density lipoprotein cholesterol (LDL-C),serum lipids before and after treatment and the incidence of adverse reaction of 3 groups were compared. Results The compliance rate of TC of group A,group B and group C were separately 40.00%(32/80),62.50%(50/80)and 96.25%(77/80);the compliance rate of LDL-C of group A,group B and group C were separately 51.25%(41/80),81.25%(65/80)and 98.75%(79/80);the compliance rate of TC and LDL-C of group C was significant better than that of group A and group B (χ2 =58.28,27.83,48.13,13.61,all P0.05).The incidences of adverse reaction of group A,group B and group C were separately 1.25%(1/80),3.75%(3/80)and 2.50%(2/80);there was no significant difference in incidence of adverse reaction among 3 groups(χ2 =1.03,P>0.05).Conclusion Cholesterol absorption inhibitor associated with atorvastatin for high dose on elderly patients with coronary heart disease and poor lipid controlling can efficiently control blood lipid levels,improve compliance rate of blood lipids,and did not increase the risk of adverse reaction.