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.

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 .

Objective To investigate the expressions of insulin receptor substrate-1 (IRS-1) and insulin receptor sub-strate-2 (IRS-2) in adipocytes during catch-up growth in neonatal rats with intrauterine growth restriction (IUGR) and their correlations with the insulin resistance. Methods Sprague-Dawley rats (clean grade) were randomly divided into control group and food-restricted group after fertilization. Food-restricted group were received about 30%of food amount consumed in control group every day through the whole pregnant period to establish IUGR animal model, and were fed increased amount of breast-milk from postnatal day 1 to 21 to establish the period of catch-up growth in IUGR animal model (IUGR-CG). Fasting serum glu-cose, insulin and triglyceride were measured in blood from heart ventricles of 4-week old SD rats and insulin resistance index was calculated. Pre-adipocytes and mature adipocytes were obtained from SD rats at different age (1-week, 3-week, 5-week and 7-week old) and the former were induced to differentiate toward mature adipocytes. The levels of IRS-1, IRS-2 in the two kinds of mature adipocytes were detected by Real-Time PCR and Western blot. Results The expression levels of IRS-1, IRS-2 mRNA in mature adipocytes of IUGR-CG rats were signiifcantly lower than those of IUGR rats at 5-weeks and 7-weeks old (P<0.05) while the ex-pression levels of IRS-1, IRS-2 mRNA in differentiated adipocytes of IUGR-CG rats were signiifcantly lower than those of IUGR rats at 5-weeks old (P<0.05). The expression levels of IRS-1, IRS-2 protein in two kinds of adipocytes (mature and differentiated adipocytes) of IUGR-CG rats were signiifcantly lower than those of IUGR rats from postpartum week 1 through 7 (P<0.05). Conclusions IRS-1 and IRS-2 expression levels are downregulated in adipocytes during catch-up growth of IUGR rats, which may be closely related with insulin resistance.

BACKGROUND:CTLA-4Ig as a tolerance-induction agent is a potential strategy in graft-versus-host disease prevention. OBJECTIVE:To investigate the efficacy of CTLA4Ig-gene-modified bone marrow stromal cels mediated by adenovirus to induce T-cel tolerance of haploidentical donors. METHODS: The bone marrow stromal cels isolated culture from the bone marrow of HLA haploidentical donors were transfected by recombinant adenovirus encoding CTLA4IgcDNA (AdCTLA4Ig) at a multiplicity of infection=50 for 72 hours. The expression rate and the location of CTLA4Ig in the transfected cels were detected by fluorescence microscope after immunofluorescence staining. CTLA4Ig-modified bone marrow stromal cels (2×104, 4×104and 8×104) were respectively co-cultured with 105 T cels from the peripheral blood of HLA haploidentical donors and 105 peripheral blood mononuclear cels from recipients. The proliferative inhibition rate was determined by MTT assay, and the level of interleukin-2 in the supernatant was detected by ELISA. The bone marrow mononuclear cels (1×105/wel) were co-cultured with CTLA4Ig-modified bone marrow stromal cel layers constructed in 6-wel plates. The number of bone marrow mononuclear cels and colony-forming unit-granulocyte macrophages were calculated after 5-day culture. RESULTS AND CONCLUSION: The expression rate of CTLA4Ig at the multiplicity of infection=50 was as high as 85%, and the immunofluorescence signals of CTLA4Ig were distributed unevenly in the cytoplasm. The inhibition rates of 2×104, 4×104, and 8×104 CTLA4Ig-modified bone marrow stromal cels on proliferation of T cels were higher than that of untransfected cels. The levels of interluekin-2 in the corresponding cel groups were significantly lower than that in the untransfected cels (P < 0.05). At 5 days of culture, there was no significant difference in the number of bone marrow mononuclear cels and colony-forming unit-granulocyte macrophages between the transfected and untransfected cel groups (P > 0.05). These findings indicate that CTLA4Ig-modified bone marrow stromal cels mediated by adenovirus can induce immune tolerance of T-lymphocyte from HLA haploidentical donors in vitro.

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.