Objective Mutations in polymerase gamma gene (POLG) are believed to be an important cause of early and juvenile onset of non-syndromic intractable epilepsy. The aim of this study is to investigate the incidence/prevalence of POLG pathogenic variants in epilespy patients of Han population through sequencing it.Methods Han Chinese patients with seizures prior valproic acid (VPA) exposure at Shanghai Children's Hospital were collected from 2015 to 2019. The clinical diagnosis was based on the 2014 Consensus Statement of Epilepsy by the International League against Epilepsy (ILAE). Blood sampling were performed before VPA treatment. The POLG gene DNA was sequenced by either the first or the next generation sequencing (NGS). The POLG variant burden was illustrated. Liver functions were tested to describe whether they experienced VPA toxicity. Results Totally 216 Han Chinese patients were included, aged from 1 month to 15 years old, 102 were male and 114 were female. The onset age was 1 month old to 13 years old, and the epilepsy course ranged from 2 weeks to about 3 years. VPA treatment was delivered for the generalized or intractable partial seizures at standard dosage. No patient experienced hepatic toxicity following VPA exposure. DNA sequencing data showed no patient had either a homozygous mutation or compound heterozygous mutation of POLG. Single heterozygous mutations of c.1150G>T and p.D384Y were found in 2 patients, and single heterozygous mutation of c.156_158dupGCA was found in 1 patient. None of these variants showed clinical significance. Conclusions Functional modifying POLG homozygous mutations and compound heterozygous mutations were not detected and VPA toxicity was not seen in the current study. POLG mutation frequency might be rare in Han Chinese, and standard VPA therapeutic dosage might be safe for Han Chinese patients.

OBJECTIVE:To investigate the effects of WeChat platform online service on the safety of pediatric family medica-tion and the quality of pharmaceutical care. METHODS:The online consultation records of"Qs and As for pediatric medications"were collected and summarized from the WeChat platform(WeChat ID:etyywd)during Jun.1st,2014-Dec.31st,2015 in our hos-pital. Statistical analysis was performed on the consulting time periods,age of pediatric patients with consultation demands,and the systems and mistake types involved in medication consultations. RESULTS:A total of 29 850 dialogue records on WeChat were collected,and 13 315 of these were related to medications(44.61%). The peak time of medication consultation was at 9:00-10:00 in the morning,with an accumulative consultation number of 1 840 cases(13.82%);while the least consultation time pe-riod was at 4:00-5:00 early in the morning,with only 13 cases(0.10%).Pediatric patients in need of consultation were more with-in the age of 1-6 years old,and most of them were preschool children(31.20%)and toddlers(26.32%). The systems consulted mainly involved the respiratory system,immune system and digestive system;in which respiratory system had the most cases (60.28%). There were 1 508 Qs and As records for medication mistakes that were occured or may occure and were corrected in time(11.33%),in which the mistake types were mainly the unsuitable use of antipyretics(3.91%),antibiotics abuse(3.14%), careless use of combination medication and excessive medication(3.04%),excessively large or small doses(0.69%),improper use of nebulized inhalant after discharge(0.41%),and excessive use of vitamins(0.14%). CONCLUSIONS:The WeChat plat-form expands the service scope of clinical pharmacists.As an extension of hospital pharmaceutical care,it reduces the risk of fami-ly medication mistakes due to a patient's or members'wrong recognition to a certain degree,reinforces communication between doctors and patients,and improves the experience of medical services.