Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are attractive candidates for screening for risk of neural tube defects (NTDs). The aim of the current study was to investigate maternal MTHFR and MS polymorphisms and the interaction between them and their influence on children with NTDs in the Shanxi Province of northern China.</p><p><b>METHODS</b>Fifty-one mothers who previously had children with NTDs constituted the case group and 51 age-matched mothers with children that were unaffected by any birth defects constituted the control group. All subjects were genotyped for MTHFR C677T and MS A2756G polymorphisms. SPSS 11.5 software package was used for all analyses.</p><p><b>RESULTS</b>There was a significant difference for MTHFR genotype distribution for one site (C677T) between the case and control groups. The T allele frequencies were significantly higher in the case group than in the control group (55.9% vs. 35.3%, P < 0.05). A lack of association was observed for the MS A2756G polymorphism. There was an interaction between the maternal MTHFR C677T genotype and MS A2756G genotype.</p><p><b>CONCLUSION</b>Genetic interaction between MTHFR and MS genes raises the probability of neural tube defects.</p>

Analysis on epidemiologic characteristics of viral diarrhea among infants in Taiyuan, Shanxi province, 2007-2008 / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To study the epidemiologic characteristics of virus-induced acute diarrhea in children under 5 years old in Taiyuan, Shanxi province.</p><p><b>METHODS</b>Stool specimens and clinical data were collected from 346 inpatients with acute diarrhea from children less than 5 years old. Rotavirus-positive specimens were identified by ELASA kit. Calicivirus and astrovirus were detected by reverse transcription-polymerase chain reaction (RT-PCR). Adenovirus was done by polymerase chain reaction (PCR).</p><p><b>RESULTS</b>Of the 346 specimens, the percentage of samples with Rotavirus, Calicivirus, Astrovirus, and Adenovirus was 40.8%, 7.5%, 6.4% and 3.2%. Among 141 rotavirus positive samples, serotype G1 (42.6%) was the predominant strain. More than 95% of viral diarrhea patients under hospitalization occurred among children younger than 2 years.</p><p><b>CONCLUSION</b>Rotavirus is the major pathogen contributing to the acute diarrhea. The disease generally peaks at autumn/winter. The predominant rotavirus strain circulated was G1P[8].</p>

Detection of human parechovirus in children hospitalized for acute gastroenteritis / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To detect human parechovirus (HPeV) from stool samples of hospitalized children for acute gastroenteritis of undetectable etiology.</p><p><b>METHODS</b>We conducted a real-time PCR to detect HPeV.</p><p><b>RESULT</b>The results showed that 24 of 99 (24%) children with gastroenteritis of undetectable etiology were detected with HPeV. Four known HPeV types (HPeV1, 3, 4, 6) were detected in the present study. HPeV1 (50%) was frequently identified as the predominant strain and follow by HPeV3 (25%), HPeV4 (8.3%) and HPeV6 (4.2%). We were unable to type 3 samples.</p><p><b>CONCLUSION</b>HPeV was prevalent in hospitalized children for acute gastroenteritis of undetectable etiology in China. Further study is needed for clarifying the role of HPeV in gastroenteritis.</p>

A case-control study on the risk factors of neural tube defects in Shanxi province / 中华流行病学杂志

<p><b>OBJECTIVE</b>To explore the risk factors of neural tube defects (NTDs) in Shanxi province where the incidence of NTDs had been the highest in China.</p><p><b>METHODS</b>1:1 matched case-control study was used. All the objects collected from hospitals were investigated in standardized questionnaires about susceptible risk factors for NTDs and were genotyped for methylenetetrahydrofolate reductase (MTHFR) C667T polymorphism by PCR-RFLP method. The risk factors of NTDs were analyzed by conditional logistic regression and by SPSS 11.5 statistical software. We also analyzed the univariable and multi-variables in order to independently investigate the MTHFR genotype and maternal periconceptional adverse factors influencing on NTDs.</p><p><b>RESULTS</b>Comparing MTHFR gene frequency between case group and control group, our results showed that three genotypes were found in MTHFR C677T. There was significant difference between two groups at 0.01 level (chi2 = 14.61, P = 0.001) about the three genotypes. The MTHFR T allele frequency of mother with NTDs (60.6%) was higher than that of the control (41.4%), and there was significant difference between them (chi2 = 14.59, P < 0.001). By univariate conditional logistic regression analysis, it was indicated that 15 factors were correlated with NTDs (P < 0.05) in the level alpha = 0.05. By multi-variables conditional logistic regression analysis, four factors were connected to NTDs: frequency of pregnancy (OR = 2.87, 95%CI: 1.28 - 6.44), contacting chemical combination in early pregnancy (OR = 16.18, 95%CI: 1.18 - 221.59), frequent taking of germinated potato (OR = 4.66, 95%CI: 1.78 - 12.17) and MTHFR C677T mutation (OR = 2.13, 95%CI: 1.08 - 4.21).</p><p><b>CONCLUSION</b>Factors as 'frequency of pregnancy', 'history of contacting chemicals', 'taking germinated potatoes in early pregnancy', as well as 'MTHFR C677T mutation' in mothers were important risk factors affecting the occurrence of NTDs in Shanxi province.</p>

Analysis of single nucleotide polymorphism in the human beta-globin gene of patients with minor beta-thalassemia from Wenzhou / 中国实验血液学杂志

This study was aimed to analyze the hematologic and molecular biologic characteristics of 14 Wenzhou patients with minor beta-thalassemia, to find out the mutation sites responsible for the disease by detecting sequences of PCR products and to analyze the single nucleotide polymorphism. The peripheral blood of patients was collected intravenously and was anticoagulated with EDTA-K(2); then the templates from blood samples were extracted, the related primers were designed for sequencing the products amplified by PCR; finally mutation sites resulting in beta-thalassemia were found through comparison and analysis of sequences. The results indicated that the C-->T heterozygous mutation occurred at the IVS-2 -654 site in 4 cases; the TTCT deficiency appeared at CD41/42 site in 1 case; in 2 sites existed single nucleotide polymorphisms occurring at the 59th site of exon 1 (T/C, CAT/CAC, His) and IVS-2 nt 665 (T/C). It is concluded that single nucleotide polymorphism of minor beta-thalassemia patients born in Wenzhou had specificity, this study found too kinds of gene mutations which are IVS-2 -654 C-->T heterozygous mutation and CD41/CD42 site-TTCT deficiency.

Correlation between birth defects and dietary nutrition status in a high incidence area of China / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate the association between birth defects and dietary nutrient intake in a high risk area of China.</p><p><b>METHODS</b>A dietary survey was performed and serum folic acid was measured in women whose pregnancy was affected by neural tube defects (NTDs) or unaffected by any birth defects (BDs) in Zhongyang and Jiaokou Counties in Shanxi Province of China.</p><p><b>RESULTS</b>The local average consumption of foods including dark green vegetables, fruits, fat and meat, and nutrient intake (e.g., energy, protein, retinol, riboflavin, vitamin E, and selenium) were lower than the national average level. In women of childbearing age, these regions, the intake of nutrients was much lower than the recommended nutrient intake (9%-77%). The case-control dietary nutrition study of women whose pregnancy was affected by BDs (including NTDs and congenital heart defects) demonstrated that, in early pregnancy, adequate nutrition (i.e., eating meat, fresh vegetables, fruit more than once a week) was a protective factor, while eating germinated potatoes was a risk factor. The geometrical mean (p5-p95) of serum folic acid in women with NTD birth defects was 9.6 nmol/L (3.6, 23.03), which was significantly lower than that in normal women (14.03 nmol/L).</p><p><b>CONCLUSION</b>Women of childbearing age in the two counties of Shanxi Province, China, have a marked insufficient intake of some nutrients, especially folic acid, zinc, vitamins A and B12. This nutrient deficiency may be an important risk factor for the high prevalence of birth defects in these regions. Therefore, adequate dietary nutrition in early pregnancy can prevent BDs.</p>

Study on the prognostic factors of colorectal cancer after radical resection and on suggested model for prediction / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study the factors of colorectal cancer (CRC) after radical resection to provide data predicting the prognosis of the patients.</p><p><b>METHODS</b>120 cases of CRC were collected in this study. Medical clinical records and 5-year follow-up data were reviewed. Streptavidin-peroxidase immunohistochemical technique was used to detect the expression of p53, C-erbB-2, nm23-H(1) and Ras on formalin-fixed, paraffin embedded sections of CRC from the 120 patients.</p><p><b>RESULTS</b>Results showed that the rates of positive expression of p53, C-erbB-2, Ras and nm23-H(1) were 62.5% (75/120), 25.8% (31/120), 80.0% (96/120) and 60.8% (73/120) respectively in the CRC tissue. All pathological variables and biological markers were analyzed with Cox regression model (alpha = 0.05). Eight distinguished prognostic factors were identified in the univariate analysis as: macroscopic configuration, histology grade, depth of invasion of intestinal, lymph nodes metastasis, Dukes' classification, p53, Ras and nm23-H(1). The results of multivariate analysis (alpha = 0.05) indicated that the independent prognostic factors were Dukes' classification, p53 and nm23-H(1) (P = 0.000), with relative risk of 3.06, 6.02 and 0.40, respectively. A prognostic model: h(t, x) = h(0)(t)exp (-0.9269X(14) + 1.1197X(10) + 1.7948X(11)) was established. Sensitivity, specificity agreement and reliability of the model and Kappa were 79.1%, 83.0%, 80.8% and 0.62, respectively.</p><p><b>CONCLUSION</b>Dukes' classification, p53 and nm23-H(1)seemed to be independent and important prognostic factors. This prognostic model could be used to evaluate the prognosis of patients with CRC by clinicians.</p>

Recombinant Design of Fc Fusion Protein of Human ScFv Against BoNTa / 微生物学通报

Human ScFv against botulinum neurotoxin serotype A(BoNTa) was modified by fusing human IgG1 Fc to C terminal of ScFv. ScFv-Fc fusion protein was expressed at high level over 30% of total host cell proteins in E.coli. Recombinant protein existed in inclusion body form. Renatured ScFv-Fc was purified to 90%~95% by Protein G Sepharose column. In vitro ScFv-Fc could bind specific to toxiod BoNTa in ELISA. Recombinant ScFv-Fc had similar relative affinity to parent ScFv and had improved stability.