Nucleotide excision repair (NER) pathway is one of the principal ways of the repair of DNA damage.The single nucleotide polymorphisms (SNP) of its key genes such as xeroderma pigmentosum group A (XPA) gene,excision repair cross complementingl (ERCC1) gene and xeroderma pigmentosum group D (XPD) gene may be associated with differences in the DNA repair capacity and may influence an individual's risk of lung cancer,because the variant genotype in those polymorphisms might destroy or alter repair function.

Objective To observe whether cigarette smoke alter the component of pulmonary surfactant pro-tein A and D. Methods In this study, we determined the contents of SP-A and SP-D in BAL fluids of healthy smok-ers and nonsmokers by enzyme linked immunosorbent assay(ELISA). Resluts The contents of SP-A and SP-D in BAL fluids were significantly decreased in smokers compared to those in nonsmokers[ (3.1±0.40) μg/ml vs (1.8± 0.4)μg/ml, (1.5±0.2) μg/ml vs (0.6±0.1)μg/m, all P <0.05]. Conclusion These results suggested that the decreased levels of SP-A and SP-D in smokers may impair the host defense functions of suffactant in the peripheral airways and might have a crucial role in the development of chronic obstructive lung disease.

Scatchard, pseudoscatchard and competitive analyses showed that there were two glucocorticoid (GC) binding sites in rat hepatic cytosol: high-affinity glucocorticoid binding sites (HAGS) and low-affinity glucocorticoid binding sites (LAGS). Pseudoscatchard analysis showed the dissociation constant (Kd) of LAGS was 4.1+1.4umol/L (n=4). The inactivation of LAGS in vitro was slower" than that of HAGS. LAGS and HAGS could not be separated by DEAE-cellulose chfomatography. HAGS were saturable and had steroid specificity for glucocorticoid just as the classic glucocorticoid receptor. Triamcinolone acetonide, RU486 and RU26988 competed equally well to LAGS while aldosterone, progesterone, estradiol and testosterone did not compete with LAGS. These results suggest that LAGS have steroid specificity for glucocorticoids. The biological actions of LAGS await fur ther study.

Objective:To study the relationship between the temperament and intelligence of preschool children Method:The temperament and intelligence of 350 preschool children were tested with Scales of Children Temperament Questionnaire and Wechsler Preschool and Primary Scale of Intelligence Result:There was no gender difference in children's temperament Children with positive tendency in temperament had higher intelligence quotient, especially for verbal IQ The IQ of our sample was associated with the rhythmicity, adaptability and persistency in temperament Conclusion:In preschool children, intelligence is associated with their temperament

Background Posterior capsular opacification (PCO) is a primary cause of blurred vision after extra-capsular cataract extraction (ECCE),and there is a higher incidence of PCO in the patients with diabetes mellitus.Echistatin (Ecs) can suppress the proliferation of lens epithelial cells (LECs) and thereby inhibit the formation of PCO.However,its mechanism and safe dose deserve to study.Objective The aim of this study was to observe the inhibitory effect of different concentrations of Ecs on LECs proliferation in the early stage of PCO in diabetic rabbits and explore the safe dose of Ecs.Methods Diabetic mellitus was induced by injection of 90 mg/kg alloxan via ear vein in 15 New Zealand white rabbis.ECCE was performed in the right eyes of the rabbits.The rabbits were randomized to the control group and 5.0,7.5,10.0 and 15.0 μg/ml Ecs group according to randomized number table method.Ecs of 0.2 ml in above doses was injected into the anterior chamber after ECCE in different concentrations of Ecs groups,and 0.2 ml distilled water was used in the same way in the only diabetic rabbits as the control group.Postopeartive response of ocular anterior segment was observed and PCO was graded under the slit lamp microscope.The corneal and retinal specimens were prepared 10 days after operation for the assay of preliferative cell nuclear antigen (PCNA) expression in LECs by immunochemistry to evaluate the effective dose of Ecs.Regular histopathological examination was performed,and apoptosis of corneal endothelial cells and retinal cells was detected by TUNEL method to assess the safe concentration of Ecs.Results Different degrees of corneal edema and exudation in anterior chamber were seen in the eyes of different groups.The inflammatory response disappeared 3-5 days in the control group and 5.0 μg/ml Ecs group and 7 days in the ≥7.5 μg/ml Ecs groups.PCO was 1-2 grade in the control group and 5.0 μg/ml Ecs group and 0 grade in the ≥ 7.5 μg/ml Ecs groups.The difference in the positive expression level (absorbance,A) for PCNA in LECs was significantly different among the control group and various Ecs groups (F=18.006,P=0.001),and the positive expression level of PCNA in the ≥ 7.5 μg/ml Ecs groups was markedly reduced in comparison with that in the control group (P =0.010,0.001).Hematoxylin and eosin staining showed an normal morphology and order arrangement in corneal endothelial cells and intact structure in retinal internal limiting membrane in the groups.TUNEL assay revealed that the apoptosis values (mean A value) of corneal endothelial ceils and retinal cells in the ≤ 10.0 μg/ml Ecs groups were not significantly changed in comparison with the control group (all at P＞0.05),but the apoptosis values in the 15.0 μg/ml Ecs group were markedly higher than those in the control group (P=0.004,0.018).Conclusions Ecs can inhibit the early PCO in diabetic rabbits and show the optimal effect at the concentrations of 7.5 and 10.0 μg/ml without visible eytotoxicity to eye other tissues.Therefore,these two doses of Ees might be used for the study of long-term therapeutic effectiveness.

Objective:To report the clinical features of KCNQ2-associated epilepsy and the novel mutations and unreported clinical phenotype of KCNQ2 gene, so as to provide help for treatment selection and prognosis evaluation.Methods:Among 979 patients with epilepsy and developmental delay who were admitted to the Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2015 to October 2019, a total of 13 patients were selected from 12 families with KCNQ2 gene mutation by whole exome sequencing technology. Suspected mutations were verified by Sanger sequencing on the probands and their parents to identify the source. The clinical phenotype and genotype were analyzed according to these results.Results:Among the 13 patients with epilepsy, the onset age of four cases were older than six months [two cases in infancy (epilepsy encephalopathy), one case in early childhood (epilepsy encephalopathy) and one case in adolescence (benign epilepsy)]. Eight cases were treated with oxcarbazepine, of whom five cases were seizure free, and two cases showed partial response (>50%). Two cases treated with topiramate were seizure free. Five novel mutations were found in this research, including c.379T>G(p.Y127D), c.1A>C(initial codon mutation), c.708G>C(p.W236C), c.1027G>T(p.A343S) and c.1649T>G(p.V550G).Conclusions:Although it was rare in clinical work, the variation of KCNQ2 gene existed in patients with childhood-onset epilepsy and adolescent-onset epilepsy. Meanwhile, five novel mutations of KCNQ2 gene were reported, which further expanded its gene spectrum. This research supported that oxcarbazepine was the efficient medicine for the KCNQ2-associated epilepsy. Genetic testing showed great help to the treatment of epilepsy.

Objective The aim of this study was to establish a rat model of blood hypercoagulable state by intra?venous injection of thrombin and to provide a model for researches on hypercoagulable state. Methods Rats were divided into six groups and were injected with normal saline and 2?5, 5, 10, 20, 40 U/kg thrombin solution through the femoral vein, respectively. Then, blood was drawn to test the activated partial thromboplastin time (APTT), prothrombin time ( PT) and fibrinogen ( FIB) , and to observe the death rate of rats in these groups to verify the optimal dosage. On this ba?sis, rats were injected thrombin of the best dose through the femoral vein, and blood samples were collected at 0, 10, 30, 60, 120, 180, 300 (s) to test APTT and PT and FIB for determining the best time for blood sampling. At last, the rats were divided into control group and thrombin group to inject normal saline or thrombin solution in the best dose via the fem?oral vein, and blood was taken at the best time to test APTT, PT, FIB and whole blood viscosity. Results APTT and PT values of the 10 U/kg thrombin group were the shortest, and FIB value of this group was the highest among these groups. APTT and PT values of blood sample collected at about 60 s after thrombin injection were the shortest, and FIB value was the highest. Compared with the control group, PT and APTT values of the thrombin group were shorter (P<0?05), and blood viscosity and FIB were higher ( P<0?05 ) . Conclusions Injecting thrombin solution into the femoral vein can be used to establish a rat model of hypercoagulable state. The best dose of thrombin solution is 10 U/kg in a concentration of 2 U/mL. The best time to collect blood sample is 60 s.

A sensitive colorimetric method for the detection of copper ions (Cu2+) was developed based on the surface modification of silver/platinum nanoclusters (Ag/Pt NCs) and regulation of peroxidase-like activity. It was found that 3-mercaptopropionic acid (MPA) could inhibit the catalytic ability of Ag/Pt NCs; however, it lost the inhibition toward catalytic ability of Ag/Pt NCs after oxidized by oxygen through the catalysis of Cu2+. On the basis of this, a colorimetric method was developed for the detection of Cu2+ through measuring the colorimetric signal variation of the TMB-H2O2 reaction. This method exhibited high sensitivity and selectivity toward Cu2+ over a panel of other metal ions. The linear range was 10-100 nmol/L and the detection limit was 5.0 nmol/L (3σ). The above method was also applied to detect real water samples and spiked samples, and the results demonstrated that this method was simple with low cost.

Objective To explore the clinical value of high‐sensitive troponin I detection in the diagnosis of early myocardial inju‐ry .Methods Totally 240 type 2 diabetes mellitus (T2DM ) patients (study group) and 40 healthy people(healthy control group) were chosen as subjects .The serum level of HbA1c ,AST ,CK ,CK‐MB and hs‐cTnI were measured among the two groups ,respec‐tively .Results Hs‐cTnI level in T2DM group was significantly higher than in healthy control group(P< 0 .05) ,and AST ,CK and CK‐MB levels in two groups had no significant difference(P> 0 .05) .Hs‐cTnI level and positive rate in HbA1c ≥ 6 .5% group was significantly higher than in HbA1c ≤ 6 .4% group(P< 0 .05) ,and no significant difference of AST ,CK and CK‐MB levels and posi‐tive rate were observed in two groups(P> 0 .05) .There was a positive correlation between the level of HbA1c and that of serum hs‐cTnI in T2DM group(r= 0 .471 ,P< 0 .05) .Conclusion The hs‐cTnI level detection has important clinical value in the diagnosis of early myocardial injury in T2DM patients ,and HbA1c is positively correlated with hs‐cTnI .

Aim To investigate the effect of puerarin on proliferation, differentiation, and mineralization of MC3T3-E1 cells and the expression of TRPM3 mRNA.Methods Proliferation, differentiation, and mineralization of puerarin in MC3T3-E1 cells were determined using CCK-8 assay, alkaline phosphatase(ALP) activity assay, and Alizarin Red Staining, respectively.Effect of puerarin on cell cycle and intracellular calcium concentration of MC3T3-E1 cells was detected by flow cytometry.RT-PCR was used to detect the effect of puerarin on TRPM3 mRNA expression.Resuls 0.1, 1, 10 μmol·L-1 puerarin significantly promoted the proliferation of MC3T3-E1 cells, reduced the proportion of cells in G1 phase, increased the proportion of G2 and S phase, of which 0.1 μmol·L-1 concentration effect was the most significant.Compared with control group, the ALP activity and mineralized nodule area of 0.1 μmol·L-1 puerarin group were significantly increased.The expression of TRPM3 mRNA and the intracellular calcium concentration were significantly decreased in 0.1 μmol·L-1 puerarin group.Conclusion Puerarin can promote the proliferation, differentiation, and mineralization of MC3T3-E1 cells, and reduce the expression level of TRPM3 mRNA and intracellular calcium concentration.