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.

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 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.

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 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.

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.

BACKGROUND:Leukemia cells can obtain drug resistance phenotype mediated by adhesion to bone marrow stromal cells. But, for chronic myelogenous leukemia with adhesion functional defects, the role and mechanism of bone marrow stromal cells in imatinib-resistant formation remain unclear. OBJECTIVE:To construct the co-cultured model of bone marrow stromal cells-K562 cells and to investigate the influences of the co-culture with bone marrow stromal cells from the patients with chronic myelogenous leukemia on imatinib sensitivity of K562 cells and cellcycle. METHODS:The co-culture model was constructed by co-culturing K562 cells with bone marrow stromal cells isolated and cultured from the patients with chronic myelogenous leukemia. The IC50 values of K562 cells exposed to imatinib were quantified by MTT assay. The apoptotic rates of K562 cells exposed to 0.5μmol/L imatinib for 72 hours were detected by flow cytometry through Annexin V-FIT/PI labeling. The cellcycles, cellcycle protein (cyclin A, cyclin D1 and cyclin E) expression of K562 cells co-cultured with bone marrow stromal cells for 72 hours were analyzed by flow cytometry.RESULTS AND CONCLUSION:The IC50 values of co-culture group and suspension culture group were respectively (0.52±0.02)μmol/L and (1.27±0.05)μmol/L, and their comparison showed significant differences (P<0.01). After 72 hours of treatment with 0.5μmol/L imatinib, the apoptotic rates in the co-culture group and suspension culture group were respectively (15.48±4.17)%and (32.01±6.83)%, and their comparison showed significant differences (P<0.01). The percentages of G0-G1 phase of K562 cells co-cultured with bone marrow stromal cells for 72 hours were (48.81±8.27)%, which were significantly higher than the suspension culture group (25.78±3.26%) (P<0.01). The co-culture with bone marrow stromal cells from the patients with chronic myelogenous leukemia could mediate K562 cells resistance to imatinib. The mechanism was possibly related with G0/G1 arrest of K562 cells induced by co-culture with bone marrow stromal cells.

Objective In recent years , multivariate pattern analysis ( MVPA) method was proposed and considered to be a promising tool for automated identification of various neuropsychiatric populations .Support vector machine ( SVM) is one of the most widely used methods of MVPA .Using SVM classifier for MVPA of amnestic mild cognitive impairment (aMCI) and normal control (NC) group, the present study aims to build an individual diagnostic model with significant discriminative power and investigate the gray matter abnor-malities of aMCI patients . Methods Fifty-one aMCI patients and 68 normal controls were scanned on the 3-Tesla magnetic resonance imaging (MRI) for high-resolution T1-weighted images.Gray matter volume map was calculated for each subject and used as features for subsequent discriminative analysis .We first applied feature selection to remove redundant information and reduce feature dimension , and then trained an SVM classifier . Leave-one-out cross validation ( LOOCV) was used to estimate the performance of the classifier , and finally the most discriminative features were identified . Results The proposed classifier achieved a classification accuracy of 83.19%with a sensitivity of 76.47%and a specificity of 88.24%.In ad-dition, the area under the receiver operating characteristic (ROC) curve was 0.8368.Further analysis revealed that the most discrimi-native features for classification included bilateral parahippocampal gyri , bilateral hippocampi , bilateral amygdala , bilateral thalamus , right cingulate , right precuneus , left caudate , left superior temporal gyrus , left middle temporal gyrus , left insula and left orbitofrontal cortex. Conclusion The proposed classification model has achieved significant accuracy for aMCI prediction , and it also displayed the whole brain gray matter atrophy pattern in aMCI patients .It suggests that the proposed method may have important implications for early clinical diagnosis of aMCI patients .