Neonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.

Objective To investigate the relationship between cardiovascular risk factors and arterial elasticity in elderly hypertensive patients.Methods 253 subjects were divided into two groups:hypertension group (n=141) and non-hypertension group (n =112).Carotid-femoral pulse wave velocity (C-FPWV),carotid-radial PWV (C-RPWV),height and weight were determined.Fasting plasma levels of blood glucose (BG),blood lipids,insulin,endothelins (ET),nitric oxide (NO) and high sensitivity C-reactive protein (hsCRP) were assessed.Results C-FPWV and CRPWV were higher in hypertension group than in non-hypertension group [(11.7±1.9) m/s vs.(9.7±1.1)m/s,(11.7±1.7) m/s vs.(9.4±1.1)m/s,t=8.43 and-6.30,both P＜0.01].Body mass index (BMI),systolic blood pressure (SBP),diastolic blood pressure (DBP),levels of triglyceride (TG),BG,ET,NO and hsCRP,HOMA-IR had significant differences between the two groups (t=-5.27,-4.18,-6.00,6.29,-4.18,-4.86,-3.41,respectively,all P＜0.05).Pearson correlation analysis showed that CFPWV was correlated with SBP,age,DBP,fasting BG,NO,ET,TG,HOMA IR,cholesterol (CHO),hsCRP (r=0.534,0.374,0.340,0.338,-0.306,0.242,0.228,0.225,-0.218,0.178,respectively,all P＜0.05); C-RPWV was correlated with age,DBP,SBP,NO,TG (r=0.312,0.319,0.241,-0.197,0.151,respectively,all P＜0.05).Multiple regression analysis demonstrated that C-FPWV=4.640 + 0.081× HOMA IR+ 0.047× age+0.035×SBP+0.29×TG-0.017×NO+0.014×ET+0.132×hsCRP,r2=0.514; CRPWV=3.161+0.034×age+0.033×DBP+0.313×fastingBG+0.013×ET-0.013×NO,r2=0.390.Conclusions The decreases of arterial elasticity are closely related with endothelial function,insulin resistance,levels of blood lipids and hsCRP in elderly patients with hypertension.

Acute cerebral infarction is a common disease of the central nervous system, the key of the current treatment is to restore blood flow and save ischemic penumbra .The studies have shown that good collateral circulation can reduce the infarction area, improve prognosis.Thus, an accurate and complete evaluation of collateral circulation in the early stage of disease has an important sig -nificance.The development of modern imaging techniques provides important means for the assessment of collateral circulation estab -lishment in acute stroke .In this paper, techniques and methods of the imaging examination of collateral circulation establishment in a -cute cerebral infarction and methods are reviewed, aiming to provide the basis for choosing reasonable imaging modality .

Objective To elevated the decontam ination properties of commercial nanoscale metal oxides against chemical warfare agents (CWA), and provide more foundation for the satisfactory materials of CWA decontamination. Methods Some nanocrystals of commercial metal oxides such an MgO, TiO2, ZnO and zinc nickel ferrite compound had been chosen to compare their decontamination properties. The nanocrystals were mixed with three representative compounds, sulfur mustard (HD), soman (GD) and S-(2-diisopropylaminoethyl) O-ethyl methylphosphonothioate (VX) at room temperature and natural light. The analogous experiments were conducted without addition of nanocrystals as negative control. After a fixed time, the samples were then analyzed by the methods of T-135, Schoeneman reaction and conversion method to determine the content of CWA. The decontamination properties of nanocrystals were compared with negative control. Results The chosen nanoscale metal oxides excepted nanoscale MgO had good decontamination properties against HD, and they all could decontaminate GD quickly. Nanoscale TiO2 had superior decontamination properties against GD and HD. At the room temperature and natural light, HD was completely decontaminated within 20 hours and GD was completely decontaminated within 4 hours by nanoscale TiO2. The nanocrystals of metal oxides didn′t decontaminate VX effectively. Compared to the activated clay group, nanoscale MgO had superior decontamination properties against VX over other nanocrystals (P<0.05), but the percentage of degradation was lower than 20% within 7 h. Conclusion The chosen nanoscale TiO2 has superior decontamination properties against GD and HD than others in natural condition, but it isn′t a promising agent for the decontamination of VX.

Objective To investigate influences of co-culture with the bone marrow stromal cells (BMSCs) on imatinib sensitivity,and the role of stromal cell-derived factor-1 (SDF-1)/chemokine receptor 4 (CXCR4) axis in imatinib resistance of K562 cells in the co-culture model.Methods The model was constructed by co-culturing K562 cells with BMSCs isolated and cultured from the patients with chronic myeloid leukemia.The apoptosis rate and the CXCR4 expressing rate of the K562 cells exposed to 0.5 μmol/L imatinib for 72 hours were detected by fluorescent-activated cell scanning (FACS) machine.The K562 cells were exposed to 0.5 μmol/L imatinib for 4 hours,and labelled by calckin-AM fluorescent labeling sytem.The adhesion rate of the K562 cells co-cultured with BMSCs for 24 hours was calculated with fluorescence intensity.The IC50 value of K562 cells exposed to imatinib was detected by methyl thiazolyl tetrazolium (MTT) assay while the SDF-1/CXCR4 axis was blocked by 10 μg/ml monoclonal antibody of CXCR4.Results The apoptosis rate of K562 cells exposed to 0.5 μmol/L imatinib for 72 hours in co-culture group and suspension culture group was (15.48 ±4.17) ％ and (32.01 ±6.83) ％,respectively.The apoptosis rates of K562 cells in the two groups were significantly different (t =5.587,P =0.001).For the co-culture group,the CXCR4 expressing rates of K562 cells unexposed and exposed to 0.5 μmol/L imatinib for 72 hours were (20.31 ± 3.76) ％ (suspension cultured:11.28％ ± 3.44％) and (53.64 ± 5.35) ％ (suspension cultured:25.34％ ± 3.21％),respectively.Those results showed that co-culture with BMSCs and exposure to imatinib induced the K562 cells to express CXCR4.The adhesion rates of the K562 cells to the BMSCs were elevated from (42.18 ± 6.17) ％ to (68.97 ± 11.08) ％ when the K562 cells were exposed to 0.5 μmol/L imatinib for 4 hours.The IC50 values of block group (the SDF-1/CXCR4 axis was blocked by 10 μg/ml monoclonal antibody of CXCR4) and unblock group were (0.68 ± 0.04) μmol/L and (1.27 ± 0.05) μmol/L,respectively.The IC50 values of two groups were significantly different(t =4.869,P =0.001).Conclusions The K562 cells co-cultured with the BMSCs from the patients with chronic myeloid leukemia can obtain resistance to imatinib,which was related with that co-culture with the BMSCs and exposure to imatinib can induce the K562 cells to express CXCR4.To a certain extent,the imatinib resistance mediated by co-culture with BMSCs can be reversed by monoclonal antibody of CXCR4.

Objective To study the NR5A1 gene mutation in patients with idiopathic hypogonadotropic hypogonadism(IHH), and to find the new mutation point.Methods Sixty-one IHH patients and 100 normal control subjects were collected and genomic DNA was extracted from blood samples.These patients were with normal karyotype and no abnormality was discovered in magnetic resonance imaging (MRI) scan of the pituitary.Other endocrine diseases were also excluded.The 2-7 exons and splice-sites of NR5A1 gene were amplified with polymerase chain reaction.DNA of the coding sequence and splice-sites of NR5A 1 were sequenced by double deoxidizing terminal end sequencing method in 61 IHH and 100 normal control subjects.The results of sequencing were compared with their corresponding sequence data.61 IHH kindreds were investigated and the clinical data of these patients were collected.Finally, the phenotype and genotype positive cases were analyzed.Results Six patients carried NR5A1 gene mutational sites in 61 cases of IHH.Analysis of sequencing results from 100 age and ethnicity matched control subjects did not show any of these novel changes.Conclusions One mutation in NR5A1 gene may affect protein structure and function, which should be considered in male IHH patients with normal karyotype and without insufficiency of adrenal function.

Objective To establish an effective and reliable method for analysis of uhratrace uranium in multi-stage atmospheric particles providing the monitoring and evaluation of the content of radioactive uranium in the atmosphere.Methods A large volume six-stage-impactor sampler of atmosphere particles was used to collect aerosol samples,and uhratrace uranium in particles was digested using microwave and measured by inductively coupled plasma mass spectrometry.The filter material,digestion conditions and microwave digestion system had been optimized.Results The background of uranium level on the cellulose filter was the lowest,and the samples were digested by using HNO3-HCI (aqua regia)-H2O2 solution.Reference material SRM2783 was used to validate the accuracy of the method,and the relative error of the 238U was 7％,The detection limit of the method was 2 × 10-4ng/m3.The aerosol actual samples were analyzed using the established method.The mass concentrations of uranium in PM2.5 was in the range of 0.023-0.065 ng/m3.Conclusions The established method was effective and reliable to monitor the concentration level of ultratrace uranium in multi-stage atmospheric particles.

Objective To investigate the chemotherapeaties sensitivity and expression of bcl-2, bcl-xL and bax of Jurkat cells co-cultured with bone marrow stromal cells (BMSC) isolated and cultured from leukemia patients. Methods BMSC were isolated and cultured from leukemia patients routinely. To construct the co-cultured model, Jurkat cells were co-cultured with of the irradiated layer BMSC by 60Co and observed the model with scanning electron microscope. The Jurkat cells suspension-cultured were used as control. The apoptosis and IC50 were detected by the FACS can machine and MTT, respectively. The expression of bcl-2,bcl-xL and bax in Jurkat cells was detected by Western blotting. Results We found that the Jurkat cells in the model showed a decreased sensitivity to DNR, IC50 values for leukemic BMSC and nonadhered contol were of 2.30 μmol/L and 0.45 μmol/L, respectively. Moreover, Jurkat cells adhered to BMSC have a survival advantage over suspended cells following DNR exposure for 24 h, apoptosis percentages for leukemic BMSC group and nonadhered controls were of (6.05±0.54)% and (25.74±6.15)%, respectively. As compared with controls, leukemic BMSC group had significant difference in apoptosis percentages (P <0.01). The expression of bcl-2 in Jurkat cells was up-regnlated when adhered to BMSC for 4 h and the higher expression emerged after adhering for 24 h and 48 h. No marked change of bcl-xL and bax expressions were observed in the adhered Jurkat cells. Conclusion The adhered-culture with bone marrow stromal cells isolated from leukemia patients could make the leukemia cells acquire drug resistance, which was associated with the up-regulated expression of bcl-2 in the leukemia cells.

ObjectiveTo explore the effect of nanoscale bubbles transfering gene in skeletal muscle cells in mice.MethodsPlasmid DNA encoding green fluorescent protein (GFP) was mixed with bubbles dissolved in saline and injected into the tibialis anterior (TA) muscle of C57B10 mice with and without ultrasound (US).The ultrasound frequency was 1 MHz and the pulse repetition frequency was 100 Hz with 20％ duty cycle.The spatial peak temporal peak intensity (ISPTP) power level was 2 W/cm2.The entire treatment period was 30 seconds.The efficiencies of GFP transgene expression were determined under different experinmental conditions.Mice were sacrificed 1 week after plasmid DNA injection.Fibres with fluorescence green signals were determined as GFP-positive fibres by fluorescence microscopy.Readout was performed on the section with the maximum number of transfected fibers.Results1 )Albumin nanobubbles:in the conditon of with or without ultrasound,albumin nanobubbles had significantly increased gene expression compared with negative control (P ＜0.05),but significantly decreased gene expression compared with positive control ( P ＜ 0.05 ).2) Phospholipid nanobubbles:In the conditon of without ultrasound,there were no significant differences compared with negative and positive control ( P ＞0.05).In the conditon of with ultrasound,phospholipid nanobubbles had significantly increased gene expression compared with negative control ( P ＜0.05).No significant difference was observed between phospholipid nanobubbles and positive control ( P ＞ 0.05).ConclusionsNanobubbles could enhance gene transfection efficiency for skeletal muscle fibres in mice.Nanobubbles with perfluoropropane gas and albumin have potentiality in gene-enhanced transfection.