Objective To explore the relationship between the rs1611115 and rs739398 polymorphism of dopamine-β-hydroxy-lase genes and violent behavior in adolescents .Methods Adolescent male offenders were divided into violent group (107 samples) and nonviolent group (107 samples) .Besides ,107 male adolescents in vocational school were served as normal controls .The rs1611115 and rs739398 polymorphisms of DβH gene were measured by used SNaPshot SNP technology in 321 samples .Chi-square test was used to compare the distribution difference between three groups of each gene type and the allele frequency distribution . Results There was statistically significant difference among violent group ,nonviolent group and normal control group in the geno-type and allele frequencies of DβH gene rs1611115 polymorphism(P<0 .05) ,but there was no statistically significant difference be-tween violent group and nonviolent group(P>0 .05) .There was no statistically significant difference among violent group ,nonvio-lent group and normal control group in the genotype and allele frequencies of rs739398 polymorphism(P>0 .05) .Conclusion No association was found between the rs739398 polymorphism of DβH gene and adolescents with violent behavior .But the rs1611115 polymorphism of DβH gene was related to adolescent criminals with violent and nonviolent behavior .

Objective To explore the relationship between the rs3785143 polymorphism of norepinephrine transporter gene,and investigate the influence of interaction effect between NET gene polymorphism and childhood abuse in adolescents with violent behavior.Methods Adolescent male offenders were divided into violent group (124 samples) and nonviolent group (120 samples).The rs3785143 polymorphisms of NET gene were measured by used SNaPshot SNP technology in 244 samples.Chi-square test was used to compare the distribution difference between three groups of each gene type and the allele frequency distribution.Results ①There was no statistically significant difference among violent group and nonviolent group in the genotype and allele frequencies of rs3785143 polymorphism (x2=0.753,0.022; all P＞0.05).②64.5％ violent adolescents have experience of childhood abuse,and 35.5％ had no history of abuse ;48.3％ nonviolent adolescents have experience of childhood abuse,and 51.7％ had no history of abuse(x2=6.50,P＜0.05).③There was not significant interaction between NET gene polymorphism and childhood abuse((OR=0.386,P＞0.05) 95％ CI (0.457-4.739)).Conclusions The NET gene polymorphism is not associated with violent behavior in male adolescents,and there was not interaction between NET gene polymorphism and childhood abuse.

Objective To study the mutation of FLCN gene in Chinese patients with sporadic and familial primary spontaneous pneumothorax. Methods A complete genetic analysis of FLCN by use of SSCP-PCR was performed in 102 unrelated Chinese patients with isolated PSP. Results Three novel mutations (c. 924_926del, c. 1611_1631del and c. 1740C.T) and a previously reported mutation (c. 1733insC) were identified in five familial and five sporadic PSP patients. Of the 21 family members of patients with PSP including 3 previous considered as sporadic, 4 ( 19% ) had history of at least one episode of PSP and 9 (43% ) were FLCN mutant carriers without PSP. Seven of the nine (78% ) mutant carriers had pulmonary cysts detected by high-resolution computed tomography ( HRCT) . Although c. 924_926del and c. 1611 _1631 del were found in eight patients from the same geographic district, haplotype analysis demonstrated that they did not share the same affected haplotype,thus excluding common ancestry. Conclusion This study first demonstrates that FLCN mutation contributes to not only familial but also apparently sporadic' patients with isolated PSP. It suggests that mutation analysis and HRCT scan may be recommended for first-degree family members of PSP patients with FLCN mutations, irrespective of their family history status of PSP.

Objective To observe the effect of transcranial direct current stimulation (tDCS) with mirror neuronal rehabilitation training system (MNST-V1.0) in post-traumatic unconscious patients after severe craniocerebral injury. Methods A prospective, self controlled and open-label method was used. Thirty-six post-traumatic unconscious patients with severe craniocerebral injury from January 2016 to July 2017 were selected. Four cases of the patients did not complete the treatment and the last 32 cases completed the study. All patients were given routine wake-up therapy, and tDCS combined with MNST-V1.0 (20 min/time, 1 time/d, 6 times/week, a total of 8 weeks) was given at the same time. The Glasgow coma scale (GCS), JFK coma recovery scale and Four coma rating scale before treatment and 2, 4, 8 weeks after treatment were recorded. Results The scores of open reaction, language and motor response score of GCS 2, 4, 8 weeks after treatment were significantly higher than those before treatment:(1.56 ± 0.82), (2.06 ± 1.01) and (3.11 ± 1.45) scores vs. (1.00 ± 0.45) scores, (2.23 ± 1.06), (2.56 ± 1.08) and (3.02 ± 1.04) scores vs. (1.00 ± 0.61) scores, (2.79 ± 1.12), (3.22 ± 1.33) and (4.44 ± 1.07) scores vs. (1.00 ± 0.54) scores, and there were statistical differences (P ＜ 0.01 or ＜0.05). The scores of hearing, vision, movement, speech response, communication and arousal of JFK coma recovery scale 2, 4, 8 weeks after treatment were significantly higher than those before treatment, and there were statistical differences (P＜0.01). The scores of open reaction, sport reaction, brainstem response of Four coma rating scale 2, 4, 8 weeks after treatment were significantly higher than those before treatment, and there were statistical differences (P＜0.05); there was no statistical difference in respiratory score of Four coma rating scale before and after treatment (P＞0.05). Conclusions The tDCS combined with MNST-V1.0 can improve the consciousness level in post-traumatic unconscious patients with severe craniocerebral injury, and have the effect of promoting awakening.

Histone lysine specific demethylase 1 (LSD1) has been recognized as an important modulator in post-translational process in epigenetics. Dysregulation of LSD1 has been implicated in the development of various cancers. Herein, we report the discovery of the hit compound (IC = 3.93 μmol/L) and further medicinal chemistry efforts, leading to the generation of compound (IC = 49 nmol/L, and = 16 nmol/L), which inhibited LSD1 reversibly and competitively with H3K4me2, and was selective to LSD1 over MAO-A/B. Docking studies were performed to rationalize the potency of compound . Compound also showed strong antiproliferative activity against four leukemia cell lines (OCL-AML3, K562, THP-1 and U937) as well as the lymphoma cell line Raji with the IC values of 1.79, 1.30, 0.45, 1.22 and 1.40 μmol/L, respectively. In THP-1 cell line, significantly inhibited colony formation and caused remarkable morphological changes. Compound induced expression of CD86 and CD11b in THP-1 cells, confirming its cellular activity and ability of inducing differentiation. The findings further indicate that targeting LSD1 is a promising strategy for AML treatment, the triazole-fused pyrimidine derivatives are new scaffolds for the development of LSD1/KDM1A inhibitors.