Genotype and phynotype of DNM1 gene variants related developmental epileptic encephalopathy / 中华实用儿科临床杂志

Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.

Research on Correlation between Traditional Chinese Medicine Clinical Research Progress and Quality Evaluation / 世界科学技术-中医药现代化

This paper was aimed to analyze the correlation between quality evaluation and whole complete quality assessment in traditional Chinese medicine (TCM) clinical research progress,in order to discuss key steps and strategies in the clinical research progress.In accordance with the quality control indexes,all projects of Prevention and Treatment of Chronic Disease of TCM were given a research progress evaluation and complete condition.The scores were described with radar map method.The influence of research progress to whole complete quality was analyzed with correlation methods.The results showed that there was a significant correlation between research progress (including included cases and completed cases) and the total score of quality control (P ＜ 0.05).It was concluded that research progress was a key step to influence the entire clinical research level.It is necessary to strengthen the supervision on research progress to guarantee the whole research level.

Study on TCM Clinical Research Primary Quality Control and Management / 中国中医药信息杂志

ObjectiveTo investigate and analyze the current primary quality management situation in TCM clinical studies.Methods One sub-center unit from 39 projects of “Prevention and Treatment of Difficult and Complicated Disease of TCM” plan of the“11th Five-year National Key Technology R&D Program” was chosen. Executive condition of the primary quality control of each unit was under field investigation, and quality control quantitative evaluation indexes were used to conduct quantitative evaluation.Results Results were shown as the forms of statistical description and radar map. The average and median scores of primary quality management were 5.05 and 5.2, respectively. The best and preferable proportions of 39 units were 25.64% and 28.21%. Other 46.15% of these units performed poor. The problem mainly manifested on insufficient frequency and bad normalization of primary quality management, such as comprehensiveness and integrity of inspection contents, cases, problem recordings and problems timely feedback.ConclusionAlthough the primary quality management is widely conducted in TCM clinical studies, there are still some problems to be settled and improved.