1.Expressions of progestrone and dehydroepiandrosterone sulfate in serum and the influence of drug in 36 infantile with spasms
Shujing XU ; Li GAO ; Guohong CHEN ; Yanping LIU ; Yongju GAO ; Yuanning MA
Chinese Pediatric Emergency Medicine 2014;21(12):799-801
Objective To explore the serum levels of progestrone (Prog) and dehydroepiandrosterone sulfate(DHEAS),and the effect of sodium valproate(VPA) and lamotrigine(LTG) on the levels of Prog and DHEAS in infantile spasms.Methods A total of 36 cases of infantile spasms (spasms group) before treatment and 40 cases health infants(control group) were detected the serum Prog and DHEAS levels by electrochemiluminescence immunoassay,and were compared with 21 cases receiving monotherapy with VPA(VPA group),and 13 cases receiving therapy plus lamotrigine(LTG group) before and 4 months after treatment to observe the changes of sex hormone.Results There were no significant differences in Prog and log(DHEAS) (logarithmic transformation) levels between spasms group and control group (P >0.05).The serum Prog level of baby girls and baby boys were lower after treatment than those before treatment in VPA group respectively (t =2.603,3.146 ; P =0.003,0.008,respectively).The log (DHEAS) level of baby girls and baby boys were higher in LTG group after treatment than those before treatment respectively(t =3.185,2.663 ;P =0.007,0.041).Conclusion Infantile spasms would not influence the hormone metabolism,while VPA and LTG can influence the sex hormone.The hormone level should be monitored in the treatment.
2.Association of MDR1 gene C3435T and T129C polymorphism in childhood refractory epilepsy
Li GAO ; Yan LI ; Qiaofang HOU ; Yanping LIU ; Yan WANG ; Liu YANG ; Yan SUN ; Yuanning MA ; Feiyang ZHENG
Journal of Clinical Pediatrics 2014;(11):1008-1012
Objective To investigate the association between multi-drug resistant 1 (MDR1) gene C3435T and T129C polymorphism with refractory epilepsy in children. Methods A total of 260 children including 60 refractory epilepsy, 100 drug-responsive epilepsy, and 100 healthy children were enrolled. The genotypes for MDR1 polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of the three groups were compared. Results The distribution of TT/TC/CC genotypes and T/C allele frequencies of C3435T showed no signiifcant difference between drug-resistant patients and drug-responsive patients or normal control group (P>0.05). Drug-resistant patients were more likely to have the TC genotype and the C allele at T129C when compared with the drug-responsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.
3.Analysis of the clinical presentation and genetic profile of epilepsy-aphasia spectrum due to GRIN2A gene mutations
Ang MA ; Daoqi MEI ; Yaodong ZHANG ; Shiyue MEI ; Yuan WANG ; Yuanning MA ; Jianmei GUO ; Wenqian ZHANG ; Yongtao DUAN
Chinese Journal of Neurology 2024;57(2):123-132
Objective:To explore the clinical phenotypic features and genetic variation characteristics of children with epilepsy-aphasia spectrum due to GRIN2A gene variants confirmed by second-generation sequencing. Methods:The clinical data of 5 children with epilepsy-aphasia spectrum with epileptic onset diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University, from February 2019 to November 2022 were retrospectively analyzed. Whole-exome genome sequencing of the probands using a second-generation sequencing method confirmed that all 5 cases were children with the GRIN2A gene variant. The characteristics of the GRIN2A gene variants were analyzed. Results:Among the 5 children diagnosed with epileptic aphasia spectrum due to GRIN2A gene variants, the male-to-female ratio was 4∶1, and the age range of onset was 1.5-4.4 years. The clinical phenotype included seizures in all cases, language and intellectual developmental deficits in 4 cases, and attention deficit hyperactivity disorder in 3 cases. The seizures were manifested as focal seizures or secondary generalized seizures, and were effectively controlled with antiepileptic drugs. Among the 5 children, gene variant of case 1 was originated from a paternal heterozygous variant, and cases 2-5 had de novo variants, which were c.2107C>T (p.Gln703 *) nonsense variant, c.2284G>A (p.Gly762Arg) missense variant, c.2197del (p.Ala733Glnfs *3) shifted coding variant, c.2511G>A (p.Trp837 *) nonsense variant, and c.1651+1G>C shear site variant, respectively. None of the 5 loci were reported in the literature. Conclusions:Epilepsy-aphasia spectrum is an epilepsy syndrome with a complex onset, and may have different phenotypes at different genetic variant loci, with focal seizures or secondary generalized seizures, which can be effectively controlled with anti-seizure medication. The GRIN2A gene variant is the genetic etiology of the epileptic aphasia spectrum.
4.Identification of Panax notoginseng and Its Processed Products Based on HPLC and IR Spectrum
Yuxin LI ; Na XING ; Zhihong ZHANG ; Tianying YU ; Enyao MA ; Xue WANG ; Haodong BAI ; Yuanning ZENG ; Qiuhong WANG
China Pharmacy 2021;32(18):2194-2202
OBJECTIVE:To identify Panax notoginseng and its processed products . METHODS :The fingerprint was established by HPLC. Using ginsenoside Rb 1 as reference ,HPLC fingerprints of 15 batches of P. notoginseng and its processed products were drawn and the similarity evaluation was conducted by using the Similarity Evaluation System for TCM Chromatographic Fingerprints(2012 edition). The common peaks were confirmed by comparing with substance control. SPSS 21.0 and SIMCA 14.1 software were used to perform cluster analysis ,principal component analysis and orthogonal partial least squares-discriminant analysis;taking the variable importance projection (VIP)value greater than 1 as the standard ,the differential marker components causing the quality difference between P. notoginseng and its processed products were screened. IR fingerprints of P. notoginseng and its processed products were established by OMNIC 8.2.0 software,and the spectral similarity was evaluated ;double index sequence analysis was used to analyze absorption peaks of IR fingerprints of 15 batches of P. notoginseng and its processed products. RESULTS :There were 16 common peaks in the fingerprints of 15 batches of P. notoginseng , and the similarities were 0.911-1.000;there were 25 common peaks in the fingerprints of processed products ,and the similaritieswere 0.862-1.000. They had 12 identical common peaks ,and wang668@sina.com three of them were ident ified as sanchinoside R 1,ginsenoside Rg1 and ginsenoside Rb 1. Results of cluster analysi s showed that when the distance was 10,15 batches of P. notoginseng could be clustered into two categories ,SW1-SW5 into one category ,SH1-SH5 and SQ 1-SQ5 into one category ,ZW1-ZW5,ZH1-ZH5 and ZQ1-ZQ5 of 15 batches of processed products could be clustered into one category. When the distance was 5,15 batches of P. notoginseng could be clustered into three categories ,SW1-SW5 into one category ,SH2-SH5 and SQ 2 into one category ,SQ1, SQ3-SQ5 and SH 1 into one category. Fifteen batches of processed products could be clustered into two categories ,ZW1-ZW5 into one category ,ZH1-ZH5 and ZQ 1-ZQ5 into one category. The results of principal component analysis showed that the cumulative variance contribution rate of the first two principal components was 80.104% . The results of orthogonal partial least squares-discriminant analysis showed that the VIP values of the five peaks were greater than 1,which were peak H ,peak G ,peak J,peak F (ginsenoside Rg 1)and peak I. The similarity of IR fingerprints of 15 batches of P. notoginseng and its processed products were 0.889 7-1.000 0 and 0.972 8-1.000 0;the common peak rates were 80%-100%,and the variation peak rates were 0-17.65% and 0-18.75%,respectively. By comparing the wave numbers of absorption peaks ,it was found that there were differences between P. notoginseng at 3 440 and 1 450 cm-1 and processed products at 1 530 and 575 cm-1. CONCLUSIONS :Established HPLC fingerprint and IR fingerprint have good similarity ,and could effectively distinguish P. notoginseng and its processed products. P. notoginseng and its processed products from different habitats have high common peak rate and low variation rate ,and their chemical components are different ;peak H ,peak G ,peak J ,ginsenoside Rg 1 and peak I are differential marker components causing the quality difference between P. notoginseng and processed products.