Objective To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6(FZD6) gene with neural tube defects(NTDs) in a northern Han Chinese population.Methods Three nonsynonymous SNPs in the FZD6 gene (rs827528,rs3808553,rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele,genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs.Results Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls,and children with T allele and TT genotype were associated with increased risk of NTDs (OR =1.575,95％ CI 1.112-2.230,P =0.010 and OR =2.811,95％ CI 1.325-5.967,P =0.023 respectively).There were no significant differences among different genotypes or alleles in both rs827528 and rs12549394.Haplotypes AG-C and A-T-C were found associated with NTDs in the case-control study (OR =0.560,95％ CI 0.378-0.830,P=0.004 and OR=1.670,95％CI 1.126-2.475,P =0.011 respectively).Conclusions The rs3808553 polymorphism of FZD6 is obviously associated with NTDs in children of northern Han Chinese population.The TT genotype may increase the risk for NTDs.The rs827528 and rs12549394 polymorphisms of FZD6 may have no association with NTDs.

Objective To evaluate the performance of ACL TOP coagulation analyzer system in the laboratory of children′s hospital. Methods According to the documents of CLSI, the analytic characteristics including precision, accuracy, linearity, interference and carryover rate were examined; specimens from healthy children were collected and assayed to determine the reference range of Prothrombin Time (PT), Activated Partial Thromboplastin Time (APTT), Thrombin Time (TT), Fibrinogen (FIB) and D-Dimer (D-D) from children on ACL TOP. Results The within-run and between-day coefficient of variability (CV) were within an acceptable range; The accuracy deviation of PT , APTT and FIB were less than 1/2 allowed total errors; The results of determination of FIB linearity test were correlated with the results of calculation: Y = 1.002 1X-0.122, R2 =0.998 2; The extent of influence of low to middle grade of jaundice , fat and hemolysis on each test were all less than 1/2 allowed total error; The carryover rates were lower than 1.81% and within an acceptable range; The reference range of PT, APTT, TT and FIB were PT (9.1-13.1 s), APTT (24.9-42.1 s), TT (12.6-21.1 s), FIB (1.924-4.011 g/L). Conclusion The ACL TOP coagulation analyzer has good repeatability, stability, linearity and capability of anti-interference and anti-carryover.

Objective To investigate the current dyslipidemia profiles and correlation with etiological factors in early stage post-transplantation, and the impact of lipid metabolic disorder on renal function. Methods The clinical data of 1032 renal allografts from eight hospitals in Beijing between 2004 and 2008 were collected and evaluated retrospectively. Before and at the 1st, 3rd, 6th and 12th month post-transplantation, the changes in blood total cholesterol (TC), triglycerides (TG),low density lipoprotein (LDL)-cholesterol and high density lipoprotein (HDL)-cholesterol were analyzed. The difference in the blood lipid disorder at different stages stratified by time and different age group, the effects of immunosuppressive agents on blood lipid, and the impact of blood lipid disorder on the blood creatinine were studied. Results Except HDL-cholesterol, TC, LDL-cholesterol and TG levels were increased gradually at the first year, especially LDL-cholesterol and TG. The TC and LDL-choleaterol abnormalities were obviously related with age (P<0. 01 ). The effect of Tacrolimus (Tac)-based immunosuppressive regimen on the lipid metabolic disorder was less than cyclosporine (CsA). At the first year, there was no significant difference in blood creatinine between lipid-lowering treatment and non-lipid-lowering treatment (P>0. 05). For the recipients not subject to lipid-lowering treatment and their TG level higher than the normal at the first month after operation, the creatinine level at the first year was significantly higher than in those with normal TG level (P< 0. 05). Conclusion The lipid metabolic disorder following renal transplantation is a common complication after the first transplant year, and was related with age and immunosuppressive agent regimen. Tac-based immunosuppressive regimen has little effects on the blood lipid metabolism.

Objective To investigate the genotype and mutation frequency of thalassemia in child patients of Shenzhen region so as to provide evidences for the gene diagnosis and genetic counseling of thalassemia.Methods A total of 1 206 child patients suspected with thalassemia were retrospectively analyzed.The gene deletion of α-thalassemia was detected by Gap-PCR.The point mutations of α-thalassemia and β-thalassemia were determined by reverse dot blot(RDB)-PCR.The specimens suspected with HKαα and rare gene mutations were determined with nested PCR and gene sequencing,respectively.Results The detection rate of thalassemia was 76.9％ (927/ 1 206).Among them,α-thalassemia accounted for 40.5％ (489/1 206),and--SEA/αα was the most common gene mutation(75.1％);β-thalassemia accounted for 33.7％ (406/1 206),and the main IVS-2-654 (C→T) and CDM1-42 (-TCTT) heterozygous mutations accounted for 35％ and 32.5％,respectively.In addition,there were 32(2.7％) β-thalassemia patients with α-thalassemia mutation,1 patient with HKαα/ααQS,1 α-thalassemia patient with CD61 (AAG→TAG)/--SEA and 1 β-thalassemia patient with CD5 (CCT→C).Conclusion The are complicated gene mutation types and rare gene mutations of thalassemia in child patients of Shenzhen region.

Objective To investigate the MRI features of the brain in patients with neuromyelitis optica (NMO), and to evaluate the correlation between the brain abnormalities and related risk factors.Methods Fifty-four patients with definite NMO according to 2006 Wingerchuk diagnosis criteria were enrolled in this study. MRI scanning of the brain was performed in these patients. Distribution and signalfeatures of all the lesions were analyzed. A Logistic regression analysis was used to evaluate the risk factors of brain abnormalities. Results Twenty-four NMO patients (44. 4%) showed unremarkable findings and thirty (55.6%) showed abnormalities on brain MRI. Multiple and non-specific small lesions in the subcortical white matter and grey-white matter junction were the most frequent abnormalities on brain MRI (13/30, 43. 3%). Typical lesion locations included corpus callosum, subependyma of ventricles,hypothalamus and brain stem. The lesions showed punctate, patchy and linear abnormal signals. Postcontrast MRI showed no abnormal enhancement in 16 cases. Logistic regression analysis showed that coexisting anto-immune disease or infection history had correlations with abnormalities of the brain on MRI (OR=3.519,P ＜0.05). Conclusions There was a high incidence of brain abnormalities in NMO.Subependymal white matter, corpus callosum, hypothalamus and brain stem were often involved in NMO.NMO patients with coexisting anto-immune disease and infection history had higher risk of brain abnormalities.

Objective To observe the effects of 2 Gy γ-ray irradiation on regulatory T cells (Tregs) and Th17 cells and immune balance of mice.Methods A total of fifty C57BL/6 male mice were randomly divided into two groups,the irradiated group exposed to 2 Gy of whole body γ-ray irradiation,and the control group sham-irradiated.At 1,3,7,14 and 28 d after radiation,changes of peripheral haemogram were detected respectively and Tregs in peripheral blood,thymus and spleen and Th17 cells in spleen were analyzed by flow cytometry.Results Compared with control group,the number of peripheral blood white cells (WBC) and lymphocyte in irradiated group reduced significantly post-irradiation (t =8.89-33.54,P ＜ 0.05),while the cell number of peripheral CD4 + CD25 + Tregs post-irradiation rose but not significantly.Thymic Treg cells increased 1 and 3 d post-irradiation(t =-6.45,-10.59,P ＜0.05),but reduced 28 d post-irradiation (t =5.34,P ＜ 0.05).Splenic Treg cells ascended obviously from 1 to 14 d post-irradiation (t =-6.82-3.89,P ＜ 0.05).After irradiation splenic Th17 cells increased at 1 d,and reached the maximal level at 3 d (t =-2.42,P ＜ 0.05),more obviously than splenic Treg cells.The reduction of Treg/Th17 ratio from 1 to 14 d post-irradiation disturbed Treg/Th17 balance and made it drift to the direction of Th17 (t =4.02-8.04,P ＜ 0.05).Conclusions Treg/Th17 imbalance plays an important role in immune injury induced by irradiation.

We retrospectively analyzed clinical and imaging data of 26 children with split cord malformations (SCMs). Based on Pang's classification, 14 SCMs were defined as type Ⅰ and 12 as type Ⅱ.Neural function was markedly improved in 20 patients postoperatively. Three of 4 children who did not undergo surgical treatment had neural function deteriorated. Two children lost follow-up. We suggest that Pang's Classification of SCMs may be useful in describing pathological changes and guiding surgical procedure; imaging examine (including MRI, CT and X-ray) would play a significant role in confirmed SCMs diagnosis; and surgical operation should focus on eliminate and prevent spinal cord damnification.

Objective Extracorporeal shock wave therapy ( ESWT ) can promote angiogenesis and collateral circulation es-tablishment by introducing shock waves to ischemia myocardium , however , the specific mechanisms remain unclearly .The study aimed to explore the effects of 0.09mJ/mm2 shock wave treatment on human umbilical vein endothelial cell (HUVEC) proliferation, vascular endothelial growth factor (VEGF) and Interleukin-8 (IL-8) expressions. Methods There were an experimental group and a control group in the experiment .The tubes of the experiment group were set in shock wave devices without the treatment of shock waves .As for the experiment group, 0, 0.03, 0.09, 0.18, 0.24 mJ/mm2 shock waves were introduced , followed by the addition of CCK8 solution and the measurement of A value at the wavelength of 450nm by microplate reader .The HUVEC cell lines were performed 0.09 mJ/mm2 ultrasonic shock energy , CCK8 colorimetric method were utilized to detect the HUVEC proliferation , real time PCR and flow cytometry were applied to detect the expressions of VEGF and IL-8 mRNA respectively . Results ① CCK8 colorimetric method revealed that 0.09 mJ/mm2 shock energy markedly promoted the HU-VEC proliferation compared with the control group , with A450 value comparison (0.70 ±0.04 vs 0.54 ±0.09, P<0.05 ), while no sta-tistical significance was found in 0.03, 0.18, 0.24 mJ/mm2 shock energy compared with the control group ( P >0.05 ).②RT-PCR showed that the 0.09 mJ/mm2 energy significantly enhanced the expressions of VEGF and IL-8 mRNA compared with the control group (7.93 ±0.90 vs 1.07 ±0.40, 7.34 ±1.67 vs 1.00 ±0.09, P<0.001).③Flow Cytometry showed that the expressions of VEGF and IL-8 mRNA significantly increased after 0.09 mJ/mm2 ESWT compared with the control group (39.89 ±4.79 vs 20.98 ±3.30, 31.33 ± 5.61 vs 22.60 ±3.76, P<0.05). Conclusion Low-energy ESWs can surely promote HUVEC proliferation and increase the expres-sions of VEGF and IL-8, and the up-regulation of VEGF and IL-8 may play an important role in the promotion of angiogenesis by ESWT .

Objective To investigate the surgical diagnosis and treatment of late vitamin K deficiency intracranial hemorrhage caused by biliary atresia. Methods Clinical data of six cases of biliary atresia with late vitamin K deficiency intracranial hemorrhage were collected in the Department of Neurosurgery of Tianjin Children’s Hospital from January 2000 to December 2013. Data were analyzed to identify the biliary atresia as soon as possible in the treatment of intracranial hemorrhage and prolonged jaundice in children. Results Six cases (1 male, 5 female), mean age was (16.0±2.6) days, and were treated with external drainage of intracranial hematoma and infusion therapy. In the treatment, children were found jaundice exacerbation and doubted about biliary atresia. After consultation by general surgeons, children were transferred to the department of general surgery for further treatment at an average age of (29.1±1.2) days, and were diagnosed as biliary atresia by intraoperative cholangiography. Conclusion Pediatric neurosurgeon should have a sufficient understanding and make an early diagnosis to late vitamin K deficiency intracranial hemorrhage caused by biliary atresia, to avoid delaying the optimal treatment time of biliary atresia.

Objective The extracorporeal cardiac shock wave therapy ( CSWT ) can promote angiogenesis in ischemic myo-cardium and improve myocardial perfusion , but its mechanisms remain to be clarified .This study aimed to explore the effects of CSWT on the endothelial progenitor cells (EPCs), vascular endothe-lial growth factor ( VEGF) and Interleukin-8 ( IL-8) as well as its re-lieving effect on angina pectoris in patients with coronary heart dis-ease. Methods After Dobutamine stress echocardiography ( DSE) and 99 mTc-MIBI myocardial perfusion imaging (MPI) at rest and un-der stress, 25 patients with coronary heart disease underwent 9 three-month cycles of CSWT .Before and after the treatment , we obtained the results of 6-min walk test, NYHA cardiac function grades , CCS angina pectoris classes, Seattle Angina Questionnaire (SAQ) scores, doses of nitroglycerin administered , left ventricular diastolic di-ameter ( LVDD) , and left ventricular ejection fraction ( LVEF) .We evaluated myocardial perfusion and myocardial contractile function using MPI and the peak systolic strain rate (PSSR) at rest and under stress, respectively. Results After CSWT, the numbers of EPCs and EPC-CFUs cultured in vitro were significantly increased as compared with the baseline (34.52±6.58 vs 19.56±4.28, P<0.01;12.44±2.66 vs 5.04±1.90, P<0.01), and so was that of the circulating EPCs in the peripheral blood ([904.73±94.77] vs [815.68±101.08] /mL, P<0.05), the levels of VEGF and IL-8 (155.29±23.6 vs 122.26±18.85, P<0.01;149.37±46.51 vs 21.86± 5.96, P<0.01), the distance of 6-min walk (P<0.01), NYHA cardiac function grades (P<0.01), CCS angina pectoris classes (P<0.01), SAQ scores (P<0.01), doses of nitroglycerin administered (P<0.01), and MPI scores at rest and under stress (2.16±0.16 vs 1.04±0.19, P<0.01;1.40±0.16 vs 0.80±0.16, P<0.01), but no statistically significant differences were observed in LVDD and LVEF before and after treatment (P>0.05).The PSSR showed no significant changes at rest (1.21±0.62 vs 1.04±0.43, P>0.05) but remark-ably increased under stress after CSWT (2.02±1.00 vs 1.35±0.66, P<0.01). Conclusion CSWT can up-regulate the expressions of VEGF and IL-8 and improve the function of EPCs in the peripheral blood , and thus plays an important role in relieving the symptoms of angina pectoris , promoting cardiac function and enhancing exercise tolerance in patients with coronary heart disease .