OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: The child was subjected to next generation sequencing (NGS). Candidate variant was analyzed with bioinformatic software. RESULTS: NGS revealed that the child has carried a de novo heterozygous c.4035G>C (p.Gln1345His) variant of the ARID1B gene. The variant was unreported previously and may cause instability of the protein structure. CONCLUSION The de novo missense variant of ARID1B gene may underlie the mental retardation in the child. Above result has enabled genetic counseling and prenatal diagnosis for her family.

Objects To study the protective effects of cimetidine against oxidative stress in rats induced by cumulative low-dose irradiation.Methods Sixty SD rats were randomly divided into 6 groups (10 each):normal control group,model control group,lentinan group [89mg/(kg.d)] and 3 dose groups of cimetidine.After oral administration,all the rats were exposed to γ-ray irradiation 8 hours/day for 12 days,and sacrificed on the 13th day.The activities of superoxide dismutase (SOD),glutathione peroxidase (GPx),catalase (CAT) and the content of malondialdehyde (MDA) in serum,liver,thymus and spleen were determined.By using the superoxide anion radical system,hydroxyl radical system,H2O2 radical system,oxidation system of linoleic acid induced by alkane radical system and diphenyl picryl hydrazinyl radical (DPPH) radical system,the antioxidation activities of cimetidine were detected.Results The activities of SOD in liver and thymus decreased significantly,the GPx activity in serum,liver and spleen decreased significantly and MDA level in serum,liver and spleen increased significantly after 0.3Gy cumulative ionizing radiation.Cimetidine enhanced the activities of antioxidant enzymes in serum and organs,and reduced the MDA level.In a certain concentration range,cimetidine had different scavenging effects onto these radical systems,and showed good performance in hydroxyl radical.Conclusion Cimetidine can effectively ameliorate the oxidative stress from low-dose cumulative irradiation by scavenging free radicals,increase the activity of antioxidant enzymes and reduce the content of lipid peroxidation products,thus presents a potential radio protective effect.

Objective To investigate the radioprotective effect of cimetidine on survival rate and hematopoietic system in acutely irradiated mice.Methods The total body irradiation doses were 6.0Gy and 8.0Gy respectively at 1.01Gy/min rate. Sixty healthy male C57BL/6 mice were randomly divided into control group, model group, positive-drug (523) group and cimetidine groups (33.3mg/kg, 100mg/kg and 300mg/kg). Each group had ten mice. The mice were given intragastric administration of cimetidine for 6d before the irradiation in cimetidine groups, and 523 was administered before irradiation once a day for one day in 523 group, and at 5h after irradiation, was given again. The 30d survival rate after 8.0Gy irradiation was recorded. The peripheral blood cells, bone marrow DNA content and frequency of micronucleated polychromatic erythrocytes (fMNPCE) were determined 30d after 6.0Gy irradiation.Results After 8.0Gy irradiation, all the mice died on 21th day in model control group. The survival rates in cimetidine groups were 50%, 20% and 30%, respectively. After 6.0Gy irradiation on 30th day, compared with control group, the peripheral white blood cells (WBC) and bone marrow DNA content were decreased significantly (P<0.01,P<0.05) in model group, and fMNPCE was increased significantly (P<0.05). Compared with model group, WBC was significantly increased in 300mg/kg cimetidine group (P<0.01). In cimetidine groups, the bone marrow DNA content was increased significantly after irradiation (P<0.01 orP<0.05), and the fMNPCE was decreased significantly (P<0.01 orP<0.05) and tended towards normal.Conclusion Cimetidine could improve 30d survival rate of acutely irradiated mice and has good protective effect on hematopoietic system.

Objective:To establish a method to determine vitamin B 6 and fluocinonide in compound vitamin B 6 gel.Methods:The contents of vitamin B6 and fluocinonide in the gel were determined by HPLC with a Lichrospher CN C 18column (250 mm ×4.6 mm, 5μm).The mobile phase was heptane sulfonate solution (adding 6.8 g potassium phosphate monobasic and 1.0 g heptane sulfonate into 1000 ml water) -methanol –triethylamine (35:65:0.2,adjusting pH to 3.2 with phosphoric acid).The detection wavelength was 238 nm and the column temperature was 25℃.The injection volume was 20 μl.Results: Vitamin B6 had a good linear relationship within the range of 15.0-300.0 μg· ml-1(r=1.000 0), and the average recovery was 99.65% (RSD=0.3, n=9).Fluocinonide had a good linear relationship within the range of 0.4-8.0 μg· ml-1 (r=0.9990), and the average recovery was 99.35% (RSD=0.85, n=9).Conclusion:The method is simple and reproducible, and the result is accurate.The method can be used for the deter-mination of the gel.

Objective:To prepare old tea buccal tablets using wet granulation method and optimize the preparation technology. Methods:The amount of each adjuvant was studied by single factor experiments, and the formula of the buccal tablets was optimized by the orthogonal experiments using taste and disintegration time as indices. Results:The optimal formula was composed of old tea ex-tract 30 g,mannitol 60g,PEG6000 20 g,aspartame 10 g,citric acid 10 g and menthol crystal 1 g. All the tested indices including ap-pearance, hardness and disintegration time met the requirements described in Chinese pharmacopeia. Conclusion: The preparation technology is reasonable and feasible for the industrial production.

Objective:To establish the quality standard for Sipunculus nudus polysaccharide. Methods:The water content, igni-tion residues and heavy metals in Sipunculus nudus polysaccharide were determined. Authrone-sulfuric acid colorimetry was used to de-termine the polysaccharide content. Results: The water content in the polysaccharide should not exceed 5. 0%, ignition residues should not exceed 1. 0%, and the content of heavy metals should not exceed 20 ppm. The polysaccharide content should exceed 80%( glucose) . Conclusion:The method is accurate and simple, and can be effectively used in the quality control of polysaccharide in Sipunculus nudus Linnaeu.

Objective To investigate the combined biological effects of low dose radiation,carbon monoxide,benzene and noise on rats.Methods Sixteen male SD rats were randomly divided into experiment group and control group.The experiment group was exposed to carbon monoxide,benzene,low dose radiation and noise daily,the control group was in common environment.Peripheral blood,organ index,and marrow DNA content were detected.Two-dimensional electrophoresis (2-DE) was performed on serum protein analysis.Differential expressed proteins were identified by a matrix assisted laser desorption/ionization time of flight mass spectrometry (MAIDI-TOF-MS).Results Compared to control group,the liver index,spleen index,thymus index,leukocytes,platelets count,and marrow DNA content of the experiment group were decreased significantly (t =2.732,4.141,3.053,2.211,2.668,11.592,P ＜0.05).12 altered proteins were detected and through identification,3 proteins were definite in terms of serum amyloid A-4 protein (SAA4),trichoplein keratin filament-binding protein (TCHP) and tubulin alpha-4A chain (TUBA4A).Conclusions The hematopoietic system and immune system of rats are damaged significantly with the changes of several serum protein expressions by the combined exposure of low dose radiation,carbon monoxide,benzene and noise.This study may provide new information for the mechanism of the combination effects.

Objective To study the protective effects of garlic polysaecharide on L02 from oxidative injury.Methods Cultured L02 were injured by ethanol.Various concentrations of GP(10、20、40、80 mg/L) were added into culture medium.Then the cellular MDA,SOD,and GSH-Px were determined in order to observe the protection of curcumin and the time-dose-response effects.Meanwhile,HO-1 mRNA was detected by RT-PCR method after ethanol exposure.The expressions of HO- 1 proteins were detected by Western blotling.Results GP (10、20、40、80 mg/L) could reduce oxidative injury induced by ethanol in L02 cells.Liver cells were 100 mmol/L alcohol after 8h exposure,SOD[(3.65±0.42) NU/mg,(4.11±0.16) NU/mg,(4.61 ±0.23)NU/mg],GSH-Px [ (75.96 ± 8.96) mg/mg,(81.83±5.70) mg/mg,(89.32±6.35) mg/mg respectively],GSH-Px[(75.96±8.96),(81.83±5.70),(89.32±6.35) respectively]activity,MDA[(1.05±0.16) nmol/mg,(0.99± 0.12) nmol/mg; (0.78± 0.11) nmol/mg respectively]levels compared with the control group [ (2.35 ±0.28) NU/mg,(54.41 ±8.17) mg/mg,(1.58±0.23) nmol/mg respectively],there was a significant difference (P＜ 0.05 ); HO-1 mRNA expression was in a concentration- dependent effect.Conclusion GP had protective effects on L02 from oxidative injury probably by reducing GSH consumption,improving antioxidant enzyme activity and inhibiting lipid peroxidation reaction at dose-dependent manner.GP could promote expression of HO-1 mRNA co-coordinating role in protecting liver cells from oxidative injury.

Objective To compare a potential role of dendritic cells (DCs) and macrophages in inducing protective immunity against infection with Schistosoma japonicum. Methods DCs and macrophages were pulsed in vitro with soluble egg antigen (SEA) of S. japonicum. BALB/c mice were injected three times with DCs or macrophages, either antigen-pulsed or not,and challenged with 40 ± 2 cercariae of S. japonicum per mouse. Worms were collected 42 days later by portal perfusion of the mice and egg number of liver was calculated. To evaluate whether protective immunity had been induced by preparations of DCs or macrophages, the worm burden and fertility ( eggs per female per mouse liver) were compared between the groups of mice. The antibody level against SEA was detected by ELISA. Results With respect to mice injected with untreated cells, numbers of worms and eggs per female worms were significantly reduced in the groups of mice having received pulsed DCs (26. 3% and 37.9%, respectively), or pulsed macrophages (22. 0% and 30.7%). Untreated DCs and macrophages induced no significant effects. The antibody level against SEA rose in sera of all groups of mice up to 42 days after the challenge, but most pronounced in those immunized with pulsed DCs, although this was not significantly different from other groups. Conclusion The results suggest that the protective immunity against S. japonicum might be induced by DCs to a higher extent than by macrophages after in vitro pulsing with egg antigen.

Aim To study the relationship between the expressions of Fas,Fas-L and the spontaneous apoptosis of thymocytes in vitro. Methods The expressions of Fas,Fas-L and the apoptotic rate of thymocytes were assayed by flow cytometry. Results The apoptosis and the Fas expression of thymocytes of different culture times in vitro were increased time-dependently in vitro. The Fas-L expression of thymocytes cultured for 24 h was also significant increase. There was significant corelation between the increase of Fas expression and the increase of apoptosis of thymocytes in vitro. Conclusion Fas is an important molecule which mediates spontaneous apoptosis of thymocytes cultured in vitro.