A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations

A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and nextgeneration sequencing (NGS)were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN,meanwhileNGSalso revealed a partial tetrasomy of 27.84Mbfrom4q26-q31.21 (117,385,735–145,225,759), and G-banding analysis excluded the couple to have carried the 4q26-q31.21 duplication. We have identified a de novo mosaic small supernumerary marker chromosomes (sSMC) derived from 4q26-q31.21 in a foetus with hemivertebra, polydactyly, abnormal ears, and heart and ventricular septal defect.

Preliminary study on constituents of extracts from stems and leaves of Aucklandia lappa and their effect of on gastric emptying and intestinal propulsion of mice / 药物评价研究

Objective To investigate the constituents of water and ethanol extracts from the stems and leaves ofAucklandia lappa and their effect on gastric emptying and intestinal propulsion of gastrointestinal normal,hyperthyroidism and inhibited mice.Methods The water,ethanol and aether petrolei extracts from stems and leaves of A.lappa were prepared,and the chemical constituents of the stems and leaves were identified by chemical reaction.The hyperthyroidism state was induced by neostigmine and inhibiting state was induced by atropine.Mice were ig administered with water and ethanol extracts (0.5 g/kg),with the improved phenol red method to determine gastric emptying and intestinal propulsion in gastrointestinal normal,hyperthyroidism and inhibited mice.Results Both water and ethanol extracts significantly improved intestinal propulsion in normal mice (P ＜ 0.05 and 0.01),while significantly decreased the intestinal propulsion in hyperthyroidism mice (P ＜ 0.05) and ethanol extract showed a stronger decreasing effect than that of water extract.The inhibitory effect of atropine on intestinal propulsion was intensified by these two extracts (P ＜ 0.05).The restrained gastric emptying of normal,hyperthyroidism and inhibited mice was also observed.Chemical composition analysis indicated that many kinds of chemical components including protein,sugar,essential oil,flavonoids,lactones,alkaloids,saponins and tannins existed in the leaves and stems of A.lappa.Conclusion The leaves and stems of A.lappa could promote the intestinal propulsion of normal mice and restrain the intestinal propulsion of hyperthyroidism and inhibited mice while inhibit the gastric emptying in any condition tested,and its promoting effect on the gut may be related to the M cholinergic receptor.

Effect of ginseng polysaccharide-induced wnt/beta-catenin signal transduction pathway on apoptosis of human nasopharyngeal cancer cells CNE-2 / 中国中药杂志

<p><b>OBJECTIVE</b>To observe the effect of ginseng polysaccharide (GPS) on the proliferation and apoptosis of human nasopharyngeal cancer cells CNE-2, and discuss the possible mechanism.</p><p><b>METHOD</b>The effect of GPS on the growth of CNE-2 cells was observed by CCK8 assay. CNE-2 cells in the logarithmic phase were collected and processed respectively with different concentrations (0, 0. 1, 0. 2, 0. 3. 0. 4 g L-1) of GPS for 48 h. The flow cytometry was used to detect its induction effect on CNE-2 cell apoptosis. Hoechst-33258 cell staining and electron microscope were used to observe the morphological changes of cells. The beta-catenin mRNA expression was detected by Real-time PCR. The protein localizations and expressions of beta-catenin and TCF4 were tested by the immunofluorescence staining. The expressions of beta-catenin, Bcl-2 and Bax proteins were detected by Western blot.</p><p><b>RESULT</b>CCK8 assay results showed that GPS could remarkably inhibit the proliferation of CNE-2 cells, with dose-time dependence. IC50 of cells induced with GPS for 48 h was 0. 39 g L-1. After being processed with GPS with concentrations of 0.1, 0. 2, 0. 3, 0. 4 g L-1 for 48 h, the cell apoptosis rates of human nasopharyngeal cancer cells CNE-2 were (5. 69 +/- 0. 29)% , (10. 3 +/- 0. 63)% , (15. 4 +/- 0. 74 ) % and (35. 7 +/- 1. 86)% , respectively. Significant difference was observed compared with the control group (2. 08 +/- 0. 11) % (P <0. 05). The results of Hoechst-33258 staining showed the characteristics of cell apoptosis. Under the electron microscope, apoptosis bodies could be observed among CNE-2 cells induced with GPS with the concentration of 0. 4 g L -1 for 48 h. The results of Real-time PCR showed a significant reduction in beta-catenin mRNA expression. The results of laser confocal microscopy revealed notable decrease of beta-catenin and TCF4 expression in nucleus and transfer from nucleus to cell membranes in beta-catenin expression areas after being processed with GPS for 48 h. Western blot showed significant decrease in the expressions of beta-catenin and anti-apoptosis protein Bcl-2, with an increasing expression in apoptosis-promoting protein Bax (P <0. 05).</p><p><b>CONCLUSION</b>GPS could significantly inhibit the proliferation of CNE-2 cells and promote thier apoptosis. The obstruction of Wnt/beta-catenin signaling pathway may be an important mechanism for GPS to induce the apoptosis of human nasopharyngeal cancer cells CNE-2.</p>

Introduction on a forecasting model for infectious disease incidence rate based on radial basis function network / 中华流行病学杂志

It is important to forecast incidence rates of infectious disease for the development of a better program on its prevention and control. Since the incidence rate of infectious disease is influenced by multiple factors, and the action mechanisms of these factors are usually unable to be described with accurate mathematical linguistic forms, the radial basis function (RBF) neural network is introduced to solve the nonlinear approximation issues and to predict incidence rates of infectious disease. The forecasting model is constructed under data from hepatitis B monthly incidence rate reports from 1991-2002. After learning and training on the basic concepts of the network, simulation experiments are completed, and then the incidence rates from Jan. 2003-Jun. 2003 forecasted by the established model. Through comparing with the actual incidence rate, the reliability of the model is evaluated. When comparing with ARIMA model, RBF network model seems to be more effective and feasible for predicting the incidence rates of infectious disease, observed in the short term.

Study on the factors influencing the quality of life among patients with malignant lymphoma / 中华流行病学杂志

<p><b>OBJECTIVE</b>To measure and assess the quality of life (QOL) and to explore the influencing factors on patients with malignant lymphoma.</p><p><b>METHODS</b>QOL of 110 patients with malignant lymphoma were marked using EORTC QLQ-C30 short form, and multiple linear regression models were used to study the main factors influencing the QOL of patients with malignant lymphoma on five functional scales (physical, role, cognitive, emotional, and social) and the total scores.</p><p><b>RESULTS</b>The influencing factors of quality of life on patients with malignant lymphoma appeared to be: history of relapse, refraining from smoking, older age, educational level, space for living, exercises, medical care system, and available health care programs. Relapse (beta = 5.997, P= 0.020) and refraining from smoking (beta = -6.526, P= 0.006) were associated with total QOL scores, educational level (beta = -2.144, P= 0.057), History of relapse (beta = 5.857, P = 0.003) was associated with total functional scales while exercises (beta= -0.771, P = 0.097) and refraining from smoking (beta= -4.106, P = 0.005) were with physical scales, refraining from smoking (beta = -4.644,P = 0.008) and older age (beta = 0.989, P= 0.029) were with role scales, relapse (beta = 14.035, P= 0.001) and older age (beta = 2.230, P= 0.023) were with cognitive scales, relapse (beta = 8.500, P= 0.031) and living space (beta = - 3.054, P= 0.0901) were with emotional scales and medical care system and available health care programs (beta = -6.577, P= 0.018) were with social scales respectively.</p><p><b>CONCLUSION</b>Factors as prevention of relapse, correct cognition on malignant lymphoma, reasonable exercise, refrain from bad habits, improving medical care system could all increase the functions of malignant lymphoma patient, and to improve their quality of life.</p>

Study on the relations between serum insulin-like growth factor-1, insulin-like growth factor binding protein-3 and colorectal cancer: a meta-analysis / 中华流行病学杂志

<p><b>OBJECTIVE</b>To evaluate the relationship between circulating levels of insulin-like growth factor-1 (IGF-1), IGF-binding protein-3 (IGFBP-3) and colorectal cancer.</p><p><b>METHODS</b>A meta-analysis of 6 epidemiological studies on insulin-like growth factors and risk of colorectal cancer were performed.</p><p><b>RESULTS</b>The pooled odds ratio (OR) of IGF-1 and IGFBP-3 were 1.56 (95% CI: 1.14-2.13) and 0.78 (95% CI: 0.43-1.44) respectively. According to the results from different measurements (enzyme-linked immunoabsorbent assay and immunoradiometric assay), the pooled OR were 1.92 and 1.23 for IGF-1, 0.46 and 1.44 for IGFBP-3 respectively.</p><p><b>CONCLUSION</b>High serum levels of IGF-1 were independent risk factors of colorectal cancer but the OR of IGFBP-3 was not statistically significant. The heterogeneity between studies on IGFBP-3 and colorectal cancer was caused by different measurements used, but there was still a need to conduct simultaneous large size study under 2 different measurements for further conclusion.</p>

Study on the application of artificial neural network on diabetes mellitus/insulin-glucose tolerance classification / 中华流行病学杂志

<p><b>OBJECTIVE</b>To discuss the potential application of artificial neural network (ANN) on the epidemiological classification of disease.</p><p><b>METHODS</b>Learning vector quantification neural network (LVQNN) and discriminate analysis were applied to data from epidemiological survey in a mine in 1996.</p><p><b>RESULTS</b>The structure of LVQNN was 25-->13-->3. The total veracity rates was 96.98%, and 92.45% among the abnormal blood glucose individuals. Through stepwise discriminate analysis, the discriminate equations were established including 11 variables with a total veracity rate of 87.34%, but was 85.53% in the abnormal blood glucose individuals. Further analysis on 30 cases with missing values showed that the disagreement ratio of LVQ was 1/30, lower than that of discriminate analysis of 7/30.</p><p><b>CONCLUSIONS</b>Compared to the conventional statistics method, LVQ not only showed better prediction precision, but could treat data with missing values satisfactorily plus it had no limit to the type or distribution of relevant data, thus provided a new powerful method to epidemiologic prediction.</p>