Objective To learn the incidence of the inherited metabolic diseases in Beijing. Methods Urine samples were analyzed by gas chromatography-mass spectrometry(GC-MS)for inherited metabolic diseases in high risky infants in Beijing . Results Urine samples from 411 high risky infants were analyzed by gas chromatography-mass spectrometry. 269 cases (65.5%) were detected to have metabolic abnormalities, including 19 cases (4.6%) diagnosed of inherited metabolic diseases in which there were 15 cases of methylmalonic academia and 1 case each of propionic academia, hyperphenylalaninemia, urea cycle abnormality and pyroglutamic aciduria. There were 22 suspected cases (5.4%) of inherited metabolic diseases including 13 cases of lactic acidosis, 5 cases of primary glycerol aciduria, 4 cases of fatty acid metabolic disorders including 1 case each of Citrin defects, tyrosinemia, galactosemia 3-methylcrotonoyl coenzyme A carboxylase deifciency and maple syrup urine disease. There were also 228 cases (55.5%) of metabolic abnormalities, such as increasing urine levels of lactic acid, sucrose,lactose, galactose, N-acetyl tyrosine, succinic acid, dicarboxylic acid and abnormal serine/threonine ratio. Conclusions Methylmalonic academia might be the most common inherited metabolic diseases in high risky infants in Beijing. For infants with clinical manifestations but unclear etiology, GC-MS should be performed. MS-MS and gene analysis could be combined if necessary.

Objective To investigate the effect of high glucose and losartan on cell proliferation and cyelooxygenase-2 (COX2) expression in normal human mesangial cells (NHMCs), and to examine the effect of losartan on COX2 and transforming growth factor-betal (TGF-β1) expression in a model of diabetic nephropathy (DN). Methods NHMCs were cultured in vitro in high glucose media with or without losartan. NHMCs proliferation and COX2 expression were determined by WST-1, Western blot,and RT-PCR. The rat model of DN was produced by injections of streptozocin (STZ). After the treatment with losartan for 4 weeks, glomerular hypertrophy, urinary thromboxane B2(TXB2) and 24 h urinary pro-tein counts were measured,and COX2 and TGF-β1 expressions were investigated using immunohistochem-ical techniques and RT-PCR. Results Losartan dose-dependently inhibited the proliferation of NHMCs in response to high glucose. Losartan also decreased COX2 expression in NHMCs at high or low glucose concentrations. In vivo experiments found kidney weight/body weight (KW/BW), urinary TXB2 and 24 hurinary protein counts increased significantly in the DN group. Losartan reduced KW/BW, urinary TXB2,and 24 h urinary protein counts and significantly suppressed the over-expression of COX2 and TGF-β1.Conclusion Losartan reduces COX2 expression in NHMCs, especially at high glucose concentrations.Losartan could suppress the expression of COX2 and TGF-β1 in the kidney of DN rats and attenuate the renal lesions caused by DN.

Objective To investigate the copy number variants of a developmental delay patient by applying single nucleotide polymorphisms array technique and to analyze the relationship between the clinical manifestation and copy number variants.Methods Single nucleotide polymorphisms array was used to detect genomic copy number variants in a child with development delay and her phenotypic normal parents.Results The patient had a 7. 9-Mb deletion at 8p23.3-p23.1 and a 27.4-Mb duplication at 8p23.1-p11.23, which were conifrmed as pathogenic copy number variants after comparative analysis with database.Conclusions Single nucleotide polymorphisms array could serve as a useful method to diagnose developmental delay patients and analyze pathogenesis.

Objective To evaluate the efficacy of haploidentical hematopoietic stem cell transplantation (HSCT) with supplemental umbilical cord blood (UCB) infusion in treatment of malignant hematological diseases.Method Clinical data of 66 patients with hematological malignancies treated with HSCT in our hospital between January 2010 and May 2013,were retrospectively analyzed.Among them 25 cases received infusion of human UCB before HSCT (experimental group) and other 41 cases had no UCB injection before HSCT (control group).Results There were no differences in age,gender,donor type,disease categories,disease status before transplant between two groups (P ＞ 0.05).There was a significant difference in conditioning regimes between two groups (P ＜ 0.05),but no clinical implication.The infused mononuclear cell (MNC) count in experimental group was higher than that in control group (9.94 ± 2.88 × 108/kg vs.7.80 ±0.82 × 108/kg,P =0.00),while there were no difference in infused CD34 + cell count (5.46 ±3.54 × 106/kg vs.3.54 ± 1.60 × 106/kg,P =0.16).Neutrophil recovery time in experimental group was shorter than that in control group (13.7 ±2.9 d vs.16.6 ±2.9 d,P =0.023).The incidences of grade Ⅲ-Ⅳ acute graft versus host disease (aGVHD,P =0.036),bacterial infection (P =0.001) and fungal infection (P =0.001)and hemorrhagic cystitis (P =0.00)in experimental group were lower than those in control group.There were no significant differences in platelet recovery time(P =0.43),the incidence of grade Ⅰ-Ⅱ aGVHD (P =0.27),implanted syndrome (P =0.24),sinusoidal obstruction syndrome (P =0.57)and viraemia (P =0.31)between two groups.Conclusion HSCT with supplemental infusion of human UCB may alleviate the degree of aGVHD,but the long-term outcome remains to be studied.

Objective To explore the diagnosis strategy of Rubinstein-Taybi syndrome. Methods SNP-array technology was used to analyze the variation of whole genome copy number in one patient whose clinical features were in accord with the diagnosis of Rubinstein-Taybi syndrome. Results Two-months-old male patient had been detected to have 1 . 8 Mb deletion mutation in 16 p 13 . 3 region (chr 16:2903942-4748851 ), in which the pathogenic CREBBP gene was located. Conclusions Chromosomal microarray analysis (CMA) technology, such as SNP-array, can be used to make a molecular diagnosis of Rubinstein-Taybi syndrome.

AIM: To establish a cell line of stable silencing of P2X7 receptor (P2X7R) expression through short hairpin RNA ( shRNA)-mediated interference in murine RAW264.7 macrophages, and to investigate the proliferation and apoptosis in the cell line.METHODS:Stable silencing of P2X7 R gene in the RAW264.7 cells was achieved by re-combinant shRNA plasmid targeting murine P2X7 R gene via liposome mediated transfection, followed by G418 selection. The efficacy of plasmid transfection and P2X7 R silencing in G418 resistant cells was verified by immunofluorescent micros-copy and real-time PCR, respectively.The proliferative activity was analyzed by CCK-8 assay and EdU cell proliferation as-say.The cell cycle distribution and apoptosis were evaluated by flow cytometry.RESULTS:The expression of P2X7 R at mRNA and protein levels was down-regulated by 80% in shP2X7 R group compared with negative control ( NC) plasmid transfection.In addition, P2X7 R-silencing cells exhibited higher proliferative activity compared with NC and wild-type RAW264.7 cells (P<0.05).Compared with NC cells, P2X7R silencing resulted in an increase in the phagocytosis of the cells ( P<0.05) .CONCLUSION:A cell line RAW264.7 of stable silencing of P2X7 R expression was successfully es-tablished.P2X7 R gene silencing stimulates the proliferation, and changes phagocytic function in murine RAW264.7 macro-phages.

Objective Pneumosilicosis is characterized by pulmonary fibrosis and cannot be effectively treated at present. This study was to explore the changes of monocyte subsets in the mouse model of silicon dioxide-induced experimental pneumosilicosis and the correlation of the changes with lung inflammatory injury and pulmonary fibrosis. Methods A total of 100 male C57BL/6J mice weighing 18-22 g were equally randomized into a normal saline (NS) group and a silicon dioxide (quartz) group.The model of experimental pneumosilicosis was established by oropharyngeal aspiration of quartz suspension.At 1, 3, 7, 14, and 28 days after treat-ment, the mice were sacrificed and the proportions of different circulating monocyte subpopulations determined by flow cytometry.Dif-ferent types of inflammatory cells in the bronchoalveolar lavage fluid ( BALF) were routinely counted.The inflammation score and col-lagen volume fraction ( CVF) of the lung tissue were obtained by HE and picrosirius red staining. Results At 7 days after quartz treatment, silicotic nodules were observed in the lung tissue.Compared with the NS controls, the model mice showed significantly in-creased inflammation score and CVF at 7 days (0.920 ±0.049 vs 1.400 ±0.089, P<0.01;0.525 ±0.048 vs 1.950 ±0.065, P<0.01) and 28 days (0.800 ±0.089 vs 1.520 ±0.136, P<0.01;0.850 ±0.050 sv 5.300 ±0.776, P<0.01).In comparison with the NS group, the quartz group also exhibited significant increases in the number of total cells at days 1-28 (P<0.01) and the count of neutrophils at days 1-14 (P<0.01) in the bronchoalveolar lavage fluid (BALF) of the model mice, as well as in the number of macrophages in the BALF at 3 days (0.980 ±0.663 vs 6.821 ±2.627, P<0.01), 7 days (1.225 ±0.601 vs 6.697 ±1.864, P<0.01), 14 days (1.492 ±0.438 vs 2.574 ±0.396, P<0.01), and 28 days (2.035 ±0.456 vs 3.249 ±0.492, P<0.01).The count of neutrophilic granulocytes in the BALF was remarkably higher in the quartz than in the NS group at 1, 3, 7, and 14 days (P<0.01) but not at 28 days (P>0.05).Compared with the NS controls, the quartz-treated mice showed markedly increased proportion of Ly6Chimonocytes at all time points, which peaked at 7 days (58.750 ±2.386 vs 78.300 ±2.517, P<0.01), with a positive corre-lation with the inflammation score (P<0.01) and CVF of the lung tissue (P<0.01) at 7 and 28 day. Conclusion The propor-tions of circulating Ly6Chi and Ly6Clo monocytes changed dynamically in the murine model of quartz-induced experimental pneumosilico-sis.The increased proportion of the Ly6Chi monocyte subpopulation might be closely related with lung inflammatory injury and pulmona-ry fibrosis in pneumosilicosis.

ObjectiveThe study is to investigate the predictive values of dosimetric parameters and patient related factors in severe acute radiation pneumonitis (SARP) after concurrent chemoradiotherapy in non-small cell lung cancer (NSCLC).Methods In all,147 NSCLC patients treated with concurrent chemotherapy and 3DCRT between 2006 and 2010 was collected.Independent sample t test was used to compare parameter values between patients with SARP and those without SARP.Logistic regression was used to identify significant determined factor.Predictive value of each parameter was tested by ROC analysis.Pearson correlation was used to analyze correlations between parameters.Represent factors were identified by factor analysis.ResultsThe incidence of SARP was 9.5％ ( 14/147 ).The means lung dose (MLD),V20,V30,V40,and V50 ( x2 =4.87 -6.84,P =0.009 -0.025,respectively ) were determining factors for SARP.Our datasets shows that for SARP ＜5％,MLD,V20,V30,V40 and V50 should be ≤16.77 Gy,V20≤34.15％,.V30 ≤23.62％,.V40 ≤ 18.57％,V50 ≤ 13.02％.ROC analysis show that areas under MLD,V20,V30,V40 and V50 curves was corresponding to 0.678,0.661,0.667,0.677,and 0.651,respectively.In addition,the sensitivity and specificity of each parameter at cutoff values are:78.0％ and 48.1％ for MLD;42.9％ and 82.0％ for V2o ;78.6％ and 52.9％ for V30 ;71.4％ and 61.7％ for V40,and 57.1％ and 67.7％ for V50.Factor analysis suggest that we can choose 1 or 2 parameters from MLD,V20,or V30,and another from V40 or V50 for predicting.The incidence of SARP was greater in patients with tumorsin right lower lung than other locations ( 22.2％ vs 6.7％,x2 =6.19,P =0.0 2 3 ).Conclusions The MLD,V20,V30,V40 and V50 are determining factors for SARP.As predictive value of each parameter alone is relatively week,using two or more parameters to predict SARP is recommended.

Objective To explore the research hotspots and trends in the field of CSCs through the bibliometric analysis of the literature on CSCs. Methods Based on the core database of Web of Science, CiteSpace was used to analyze the annual distribution of published articles, authors, institutions, countries, journals, citations and keywords, and to explore the frequency, centrality and clustering of key words. Results (1) A total of 8131 articles were included after screening. China was the country with the largest number of articles, and Sun Yat-Sen University was the organization with the largest number of articles; (2) The hot spots in the field of CSCs are the research of CSCs in breast cancer and pancreatic cancer, the research of CSCs sorting and identification of molecular markers ALDH and genes PTEN, Sox2, C-myc, EZH2, the mechanism of EMT inducing the production of CSCs and promoting tumor metastasis, cellular and molecular mechanisms of CSCs resistance to chemical, radiation and targeted drug attacks, Wnt/β-catenin signaling pathway and tumor microenvironment regulate the differentiation of CSCs and targeted inhibition of CSCs in the treatment of malignant tumors; (3) The research trend of CSCs is CSCs stem research-biological mechanism of CSCs-CSCs application in the treatment of cancer. Conclusion The focus and direction of CSCs research are EMT inducing CSCs to promote tumor metastasis, CSCs resisting chemical attack, mesenchymal stem cells regulating CSCs, the metabolism of CSCs, and inhibitors targeting CSCs at present and in the future.

To report a 4-year-old boy with severed right index finger amputations in 2 segments. There were severe contusion on the 2 amputated sections of finger. According to the prevention and control requirement for the novel coronavirus disease(COVID-19), the patient was firstly checked to exclude the COVID-19. Then the replantation surgery was successfully carried out under the strict protective measures. The replanted index finger survived well at 2 weeks after surgery.