ABSTRACT
<p><b>OBJECTIVE</b>P-glycoprotein 170 (P-gp) is a plausible biologic candidate for pharmacoresistance in epilepsy. The expression and efflux efficiency of P-gp is influenced by a polymorphism (C3435T) in the encoding gene (MDR1). The CC genotype at the MDR1 C3435T polymorphism was reported to be associated with the response to antiepileptic drug treatment. This study attempted to replicate this finding by examining the association of this genetic polymorphism with response to antiepileptic drug treatment in ethnic Han Chinese children with epilepsy.</p><p><b>METHODS</b>Two hundred and fourteen ethnic Han Chinese children with epilepsy were classified based on the response to antiepileptic drug treatment: drug-nonresponsive and drug-responsive. DNA samples were obtained from the patients. Genotypes of the C3435T polymorphism were determined by traditional polymerase chain reaction followed by restriction digestion (PCR-RFLP). The frequency of genotypes and alleles between the two groups was compared by Chi-square test.</p><p><b>RESULTS</b>Of the 214 patients, 164 were drug-responsive and 50 were drug-nonresponsive. There were no significant differences in the allele frequency and genotype frequency between the two groups.</p><p><b>CONCLUSIONS</b>There is no an association between the CC genotype or C allele at the locus of C3435T in MDR1 gene and response to antiepileptic drug treatment in ethnic Han Chinese children with epilepsy.</p>
Subject(s)
Child , Humans , ATP Binding Cassette Transporter, Subfamily B, Member 1 , Genetics , Anticonvulsants , Therapeutic Uses , China , Ethnology , Epilepsy , Drug Therapy , Genetics , Gene Frequency , Genotype , Polymorphism, Genetic , Polymorphism, Single NucleotideABSTRACT
Objective To improve the recognition of nervous system symptoms of inborn errors.Methods Five patients with organic acidemias were screened by urine organic acid analysis(gas chromotography-mass spectrometry,GC/MS),3 cases of methylmalolic acidemias(MMA) and 2 cases of propionic acidemias(PA) were confirmed.They were treated with special diet and medicine after diagnosis.Result The improvement of mental development was observed after treatment.Conclusions Most of organic acidemias involve nervous systems,causing non-specific symptoms of nervous system as lethergy,seizures,mental retardation.Inborn errors of metabolism shall be kept in mind when causes of the symtoms of acidosis,seisures,mental retardation and lethergy are investigated.GC/MS is a very important method in diagnosis of organic acidemias.Early diagnosis and early treatment can improve the mental prognosis.
ABSTRACT
Objective To observe the therapeutic effect of ketogenic diet therapy for children with intractable epilepsy and its safety.Methods Fifteen patients with intractable epilepsy were treated with ketogenic diet that was modified specifically for Chinese people.The compliance,seizure frequency and side effects were followed up.Results Twelve patients maintained on the treatment for 1 month.Among them,the reduction of seizure frequency in 10 patients exceed 50%.Ten patients maintained on the treatment for 3 months.Among them,the reduction of seizure frequency in 8 patients exceed 50%.Five patients maintained on the treatment for more than 6 months.The reduction of seizure frequency all exceed 50%.The reduction of seizure frequency in 4 patients exceed 90%.The seizures of 3 patients were controlled completely.Ten patients among all cases had various adverse effect,such as nausea,vomiting,diarrhea,constipation,hypoglycemia(nonsymptomatic),hyperlipemia and damage of liver function and so on,which could eliminate by anti-symptomatic treatment.Conclusions Ketogenic diet is effective and safe in Chinese children with intractable epilepsy with modified methods specifically for Chinese.The effect is unrelated with seizure types obviously.