Objective To design and prepare an RNA interfering vector for effectively inhibiting the cellular expression of zinc finger protein A20 and observe the effect of A20 gene silence on cellular inflammatory response. Methods Specific RNA interfering oligonucleotide fragments (ASRF) were designed and synthesized artificially and the A20 RNA interfering vector pSUPER-EGFP-A20 siRNA constructed. Human monocyte cell line THP1 was used to infect the pSUPER-EGFP-A20 siRNA by means of genetic transfection technique; then, silence rate of cellular A20 was analyzed by real-time polymerase chain reaction (PCR). In the meantime, the activity of nuclear transcription factor nuclear factor-κB (NF-κB) and the level of tumor necrosis factor-α (TNF-α) in culture supernatant were measured by ELISA. Results Of two specific inhibitory oligonueleotide fragments of A20, the fragment M59465-385R/F had a higher inhibition to A20 expression, with rate of A20 gene silence of 83.86%. Preliminary application showed that after A20 gene silence, the activity of NF-κB was increased by 78.13% and the level of TNF-α in cell culture supernatant was increased by 49.30%. Conclusions Vector of A20gene silence with a high efficiency is obtained successfully. Preliminary application indicates that the expression of A20 can down-regulate the degree of cellular inflammatory responses.

Objective To investigate the clinical efficacy and safety of oral high-dose methylprednisolone in the treatment of infantile spasms (IS).Methods The clinical data of 38 children with infantile spasms were analyzed retrospectively who treated with oral administration of high-dose methylprednisone in Department of Neurology,Wuhan Children's Hospital,Tongji Medical College,Huazhong University of Science and Technology from January 2016 to April 2017.Results (1) Twenty patients (52.6％) of all the 38 patients were seizure-free after 2 weeks of treatment,and 16 cases (42.1％) were seizure-free at the end of treatment.(2) All the 38 cases were typical or atypical hyperarrhythmia.After treatment of 2 weeks,25 cases (65.8％) of hyperarrhythmia disappeared;at the end of the treatment,30 cases (78.9％) of hyperarrhythmia disappeared.(3) Adverse effects mainly were weight gain,Cushing signs,increased appetite,irritability,drowsiness,co-infection,electrolyte disturbance.(4) Follow-up of 3 to 12 months,the recurrence rate was low and the development quotient had improved.Conclusions Oral high dose methylprednisolone in the treatment of IS is effective,safe and has a low recurrence rate.It can be recommended in clinicalal application.

Objective To compare the efficiency and safety between Aripiprazole and other traditional drugs for Tourette's syndrome treatment.Methods Databases such as China National Knowledge Infrastructure,Wanfang,VIP,China Biology Medicine Disc,PubMed and Web of Science were electronically searched for studies on Aripiprazole for Tourette's syndrome treatment.According to the inclusion and exclusion criteria,studies,extracted data,and assessed quality were screened.Meta-analysis was performed by using Stata 11.0 software.Results Four studies about Aripiprazole for Tourette's syndrome treatment with 396 patients (Aripiprazole group:201 cases;control group:195 cases) were synthetically and quantitatively analyzed.Meta-analysis results showed that Aripiprazole was better than other traditional agents (placebo,Tiapride,Haloperidol) [standardized mean difference (SMD) =0.21,95％ CI:0.10-0.32].The subgroup by time of treatment analysis results indicated that Aripiprazole was superior to other drugs in 2 weeks (SMD =0.28,95％ CI:0.06-0.50).There was no significant difference in the efficacy between Aripiprazole and other drugs for treatment of Tourette's syndrome in 4 weeks and 8 weeks after treatment (SMD =0.16,0.28;95％ CI:-0.05-0.38、-0.20-0.76).The subgroup by matched drugs results suggested that Aripiprazole was better than Tiapride (SMD =0.29,95 ％ CI:0.15-0.43),but was not significantly different from Haloperidol (SMD =-0.03,95％ CI:-0.28-0.22).There was no significant difference in side effects incidence between Aripiprazole and traditional drugs for treatment of Tourette's syndrome (RR =0.83,95 ％ CI:0.36-1.89).Conclusions Compared with the conventional drugs,Aripiprazole has better therapeutic efficacy in the treatment of Tourette's syndrome in children in 2 weeks.Aripiprazole is better than Tiapride,but equal to Haloperidol in the treatment of Tourette's syndrome.The safety of Aripiprazole needs to be further verified.

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Objective To analyze the clinical features and gene mutation in mthylmalonic acidemia (MMA) accompanied by homocysteinemia (cblC), and review the relevant literatures. Methods The clinical features of 3 cases of MMA diagnosed by gene detection were retrospectively analyzed, and meanwhile the pertinent literatures of pathogenesis of MMA, especially combined with late-onset cblC and its gene detection, were reviewed. Results Patient 1 (26 days old) suffered from intermittent convulsions for 3 days, with isosuccinic acid 175.8 μmol/L, C3/C2 rate 1.363, homocysteine >?65 μmol/L and abnormal EEG. MMACHC gene detection found an exon deficiency (delEXON1), which has not been reported. Patient 2 ( 12 year old) was hospitalized for limb shaking, hyperspasmia and vomiting. His isosuccinic acid level was 334.3 μmol/L, C3/?C2 rate was 0.37, homocysteine >?65 μmol/L, and had abnormal EEG. MMACHC gene detection found the mutations of c.482G?>?A and c.609G?>?A. Patient 3 was hospitalized for intermittent convulsions for 20 days, whose isosuccinic acid, C3/?C2 rate, and homocysteine were increased. MMACHC gene detection found the mutations of c.394C?>?T and c.540del8 and c.540del8 had not been reported. Review of literatures discovered that MMA was combined with epileptic seizure in some patents, which further validate that the mutation in MMACHC gene c.482G?>?A may be related to the late-onset of cblC. Conclusions Gene detection contributes to the diagnosis of MMA; the mutation of MMACHC gene c.482G>A may be related to the late-onset of cblC; delEXON1 and c.540del8 are new mutations which have not been reported.

Objective To explore the neuroimmunomedulation mechanism of ICAM-1 and LFA-1 in children with febrile seizures (FS).Methods 40 children with FS were dividedinto simple FS(SFs)groupin20 cases and complex FS(CFS)groupin20 cases,and 30 health children matched with regard to age and sex were enrolled into control group.The real-time fluorescence quantitative PCR wag used to detect the expression of PBMC ICAM-1 mRNA.At the same time,the PBMC LFA-1 mRNA expression wfs studied with Send-QuantitativeRT-PCR analysis.Results The levels of PBMC ICAM-1 mRNA in SFS group were significantly higher than those in control group and CF$group(P<0.05).The levels ofPBMC ICAM-1 mRNA showed downtrend between CFS group and control group.but there was no statistical difference between the two groups(P>0.05).The levels of PBMC LFA-1 mRNA grey-scales in SFS group were significantly higher than those in control group and CFS group(P<0.05).In addition,the levels of PBMC LFA-1 mRNA in CFS group showed downtrend than those in control group,but there wti8 no statistical difference between the two groups(P>0.05).Conclusions The gene expression levels of PBMC ICAM-I/LFA-I in SFS group were different from those in CFS group.Inflammable immunopathology damage induced by ICAM-1/LFA-1 may play an important role in the pathogenesis of SFS.On the contrary,ICAM-1/LFA-1 may have seme neuroprotective effects on the pathogenesis of CFS.

Objective To investigate the clinical significance of the expression of XIAP mRNA and Survivin mRNA in non-small cell lung cancer and their relationship. Methods RT-PCR was used to evaluate the expression of XIAP mRNA and Survivin mRNA in 59 cases of NSCLC and corresponding normal tissues.Results There was a significant difference in XIAP mRNA expression in primary lung and corresponding normal tissues (61.0 % vs 30.5 %, P<0.05), whereas there were no significant correlation between the XIAP mRNA expression and gender, age, smoking history, histological subtype, T stage, lymph node metastatic status and TNM stage. There was a significant difference in Survivin mRNA expression in primary lung and corresponding normal tissues (81.4 % vs 23.7 %, P<0.05), whereas there were no significant correlation between the Survivin mRNA expression and gender, age, smoking history, histological subtype, T stage, lymph node metastatic status and TNM stage. Conclusion The significant difference of XIAP mRNA and Survivin mRNA expression between the tumor and corresponding normal tissues implies they might play important roles in the carcinogenesis and progress of NSCLC and might become marker for the diagnosis and target for treatment of NSCLC.

Objective To investigate the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and the mutation features of its pathogenic gene proline-rich transmenbrane protein 2 (PRRT2). Method The clinical manifestations and genetic tests of one case of PKD were retrospectively analyzed, and the related literatures were reviewed. Results A 10 year and 9 month male patient was recruited. The age of dyskinesias onset was 7 year and 6 month. The descriptions of the attacks were abnormal involuntary movements which were induced by sudden voluntary movements and presented with dystonia. The frequency of the attacks was three to ifve times per day with the duration lasting ten to twenty seconds, and there is no loss of consciousness. Treatment with oxcarbazepine is effective. A heterozygous mutation in PRRT2 gene, c.649_650insC (p. 217fs224X), was found by genetic testing, and the mutation was inherited from the patient’s mother who showed no symptom of PKD. Conclusion The onset age of PKD could be in the childhood and adolescence. The attack is provoked by sudden movements and the duration time is short. Treatment with antiepileptic drug is effective. The test of PRRT2 gene may help diagnosis. Mutation c.649_650insC is the hotspot mutation of the gene.

Objective To investigate the relationship between folate metabolism-related gene polymorphism and fetal congenital defects,and discuss the effect of genetic factors on fetal congenital defects.Methods Retrospective analysis was used to investigate the genotype and gene frequency of 5,1O-methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C gene loci and ethionine synthase reductase (MTRR) A66G gene locus in 132 cases of adverse pregnancy pregnant women (case group) and 150 cases normal pregnant women (control group) at the same period.The statistical differences were analyzed between the levels of their serum folate,vitamin B12 (Vit B12) and homocysteine (HCY).Results In the serum of case group,folate was positively correlated with Vit B12,and was negatively correlated with HCY,only HCY of skeletal system defects(6 cases) was higher (t =3.409,P ＜ 0.05).Comparing genotypes frequency of the MTHFR C677T,A1298C gene loci and MTRR A66G gene locus in case group with control group,the difference above was not statistically significant (P ＞ 0.05).In these three gene loci C/T,A/C and A/G allele frequency with the control group,the difference above was not statistically significant (all P ＞ 0.05).Different genotype combinations of MTHFR C667T and A1298C gene loci in control groups had no statistically different from the control group (P ＞ 0.05),and there was no synergy.Conclusions Maternal folate metabolism-related MTHFR and MTRR genes polymorphisms can affect the metabolic products levels accordingly.However,the correlation between the changes and the genetic mechanism of fetal congenital defects needs more large samples study in depth.