Objective:To explore the genetic and clinical characteristics of epilepsy related with ATP6V1A gene heterozygous variants.Methods:A case series study was conducted. The clinical data of 10 children of epilepsy associated with ATP6V1A gene variants who were admitted to the Children′s Medical Center, Peking University First Hospital from January 2019 to December 2024 was collected. The characteristics of children′ gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among the 10 children, there were 4 boys and 6 girls. All 10 children with ATP6V1A gene variants were de novo heterozygous variants, including 1 case of mosaic variant. A total of 9 different variants were identified and 7 variants have not been reported previously. The age at epilepsy onset was 28 (9, 48) months. Five children experienced their first seizure as a fever induction. The types of epileptic seizures included focal seizures in 6 children, epileptic spasms in 5 children, tonic spasms and atonic seizures in 1 child respectively. Three children had 2 seizure types. Global developmental delays were exhibited in 8 children, 2 of whom manifested autism spectrum disorder phenotypes. Two children showed normal development. Electroencephalography revealed slowed background activity in 5 children. Interictal epileptiform discharges were recorded in 9 cases, including hypsarrhythmia, focal, multifocal or generalized discharges. Clinical seizures were captured in 4 children. Brain magnetic resonance imaging abnormalities were found in 4 children, including frontotemporal cortical dysplasia, prominent sulci, delayed myelination of white matter, dysplasia of the corpus callosum, bilateral ventricular enlargement, and cerebral atrophy. Five children were diagnosed with developmental and epileptic encephalopathy (DEE), and 4 of them were diagnosed with infantile epileptic spasms syndrome. At the last follow-up, the age was 78 (25, 120) months. Seizures were controlled in 6 children, while 4 children had uncontrolled seizures despite treatment with ≥3 anti-seizure medications. Conclusions:All children with ATP6V1A gene related epilepsy harbored de novo heterozygous missense variants, with few showing mosaic variants. Seizure onset age ranged widely from the neonatal period to childhood. The predominant seizure types were focal seizures and epileptic spasms. The phenotypic spectrum may exhibit DEE, while a minority maintain normal development.

Objective:To explore the genetic and clinical characteristics of epilepsy related with ATP6V1A gene heterozygous variants.Methods:A case series study was conducted. The clinical data of 10 children of epilepsy associated with ATP6V1A gene variants who were admitted to the Children′s Medical Center, Peking University First Hospital from January 2019 to December 2024 was collected. The characteristics of children′ gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among the 10 children, there were 4 boys and 6 girls. All 10 children with ATP6V1A gene variants were de novo heterozygous variants, including 1 case of mosaic variant. A total of 9 different variants were identified and 7 variants have not been reported previously. The age at epilepsy onset was 28 (9, 48) months. Five children experienced their first seizure as a fever induction. The types of epileptic seizures included focal seizures in 6 children, epileptic spasms in 5 children, tonic spasms and atonic seizures in 1 child respectively. Three children had 2 seizure types. Global developmental delays were exhibited in 8 children, 2 of whom manifested autism spectrum disorder phenotypes. Two children showed normal development. Electroencephalography revealed slowed background activity in 5 children. Interictal epileptiform discharges were recorded in 9 cases, including hypsarrhythmia, focal, multifocal or generalized discharges. Clinical seizures were captured in 4 children. Brain magnetic resonance imaging abnormalities were found in 4 children, including frontotemporal cortical dysplasia, prominent sulci, delayed myelination of white matter, dysplasia of the corpus callosum, bilateral ventricular enlargement, and cerebral atrophy. Five children were diagnosed with developmental and epileptic encephalopathy (DEE), and 4 of them were diagnosed with infantile epileptic spasms syndrome. At the last follow-up, the age was 78 (25, 120) months. Seizures were controlled in 6 children, while 4 children had uncontrolled seizures despite treatment with ≥3 anti-seizure medications. Conclusions:All children with ATP6V1A gene related epilepsy harbored de novo heterozygous missense variants, with few showing mosaic variants. Seizure onset age ranged widely from the neonatal period to childhood. The predominant seizure types were focal seizures and epileptic spasms. The phenotypic spectrum may exhibit DEE, while a minority maintain normal development.

【Objective】 To evaluate the effect of adding platelet GPⅡb/Ⅲa receptor inhibitor (A adjuvant) into the Batroxobin cup (A cup) on the accuracy of the thromboelastogram (TEG) platelet aggregation function test using the functional fibrinogen (function fiber cup) test results as a standard. 【Methods】 From December 2019 to May 2020, 100 (persons) whole blood samples were collected from patients who visited the Department of Neurology, Department of Cardiology, Department of General Affairs and Department of Rehabilitation of our hospital for TEG platelet aggregation function test, and the blood standard samples were divided into MA <25 mm group (n=50) and MA≥25 mm group (n=50) according to the A-cup blood clot intensity (MA) value (mm) measured by TEG, the two groups were subdivided into A cup group (n=50, respectively), A auxiliary group (adding A auxiliary in A cup) (n=50, respectively), and functional fiber cup group (n=50, respectively), each subgroup was tested once again. The linear correlation, platelet inhibition and the consistency of drug efficacy interpretation results in platelet Adenosine diphosphate (ADP) and Arachidonic acid (AA) pathway respectively between the three subgroups were compared. 【Results】 (1) In the MA<25mm group, the inhibition rates of ADP and AA pathway in platelet of A cup, A adjuvant and functional fibrin cup subgroups were (32.00±17.44) % vs (30.19±17.44) % vs (30.07±16.18) %, (24.3±33.53) % vs (22.53±30.9) % vs (22.37±31.2) %, respectively (R² were all>0.975); (2) In the MA≥25 mm group, the inhibition rates of ADP and AA pathway in platelet of A cup, A adjuvant and functional fibrin cup subgroups were (34.34±33.59) % vs (18.45±24.42) % vs (18.01±24.33) %, (23.19±39.33) % vs (8.48±21.75) % vs (8.31±21.7) % ( R² between the A cup group and the A adjuvant group were all<0.8, and R2 between the A adjuvant group and the functional fibrinogen cup group were all >0.975); (3)Take the test result of the functional fibrinogen cup as the standard, the correct rates of ADP and AA pathway drug efficacy interpretation were 82% (41/50) vs 100% (50/50) and 84% (42/50) vs 100% (50/50) respectively (P<0.05) between the A-cup group and the A adjuvant group, while the interpretation results of drug efficacy of the two pathway were consistent between the A adjuvant group and the functional fibrin cup group (P>0.05). 【Conclusion】 Adding A adjuvant to TEG platelet aggregation function test can effectively inhibit non-specifically activated platelets in the A cup in the detection of platelet aggregation function, truly reflect the function of fibrinogen and improve the accuracy of platelet inhibition rate.

Objective To explore the general anesthetic EI on the rat fetal neural stem cell proliferation(NSCs) and the role played by JNK in the influence. Methods The cultured rat fetal NSCs were randomly divided into 6 groups (n=8 each):normal group (group N);fat milk group (group F);EI groups(including 8. 12,9. 80,12. 04 mmol/L EI) , 9. 80 mmol/L EI group+20 μmol/L SP600125 group ( group EISP) . After incubated for 12 hours, the cellular effects of EI and cell viability were evaluated by MTT reduction assay. The apoptotic rate of the rat NSCs were determined by flow cytometry, and the expression of protein Caspase-3 was observed by Western blot. Results There was no statistical difference in cell viability, apoptotic rate and protein expression of Caspase-3 in group N and group F. EI group had higher cell apoptotic rate(P<0. 01), protein expression of Caspase-3 (P<0. 05 ) , but lower cell viability than group N ( P<0. 01 ) . And significant differences were found between three do-ses of EI groups (P<0. 05). Compared with EI group, lower cell apoptotic rate (P<0. 01), protein expression of Caspase-3 but higher cell viability were observed in group EISP ( P<0. 05 ) . Conclusion JNK plays an important role in EI-induced cytotoxicity possibly in a dose-dependent manner.

Recently,as the exposure of the incident of‘octuplet’in Guangdong province,China's underground surrogate market has once again surfaced and led to a wide range of discussion.In this paper,the connotation and characteristics of surrogacy were analyzed and related laws and regulations of surrogacy in foreign countries were discussed.The main types of surrogacy-related legislation and regulations abroad are autonomy of private law,governmental regulation and complete prohibition.This paper carried out thorough legal analysis on whether to prohibit strictly or establish an authoritative legal system in view of the existing and ineffectively prohibited underground surrogate market in our country.

Objective To investigate the differences of perfectionism in undergraduates with different background. Methods Stratified-random sampling was used to recruit 1 298 undergraduates from two colleges in Chongqing,and Chinese Frost multidimensional perfectionism scale (CFMPS) was applied to survey their perfectionism. Totally 1 245 questionaires were taken back and the response rate was 95.9%. Results There was significant difference of CFMPS score among those who were only child or not in their family (P=0.009),of different performance records (P=0.008) and different mother’s education background (P=0.001). Conclusion Perfectionism is a stable personality,and shows some significant differences among the undergraduates with different background.