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Find video protocols related to scientific articles indexed in Pubmed.
[Systemic lupus erythematosus and immune-inflammatory thrombophilia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
PUBLISHED: 10-24-2014
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Systemic lupus erythematosus (SLE) is an autoimmune disease with causes including activation of innate and adaptive immune systems. SLE patients are with a high risk of thrombosis, which may be due to disease activation, immune complexes, toxic antibodies and high level of inflammation. This article discusses neutrophil/NET factor, antibody factor, platelet factor and particle factor which is involved in coagulation pathways and thrombus formation mechanism under the state of immune disorders in SLE.
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[FLT3 mutation in acute promyelocytic leukemia patients with extramedullary relapse].
Sichuan Da Xue Xue Bao Yi Xue Ban
PUBLISHED: 10-08-2014
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To evaluate the role of FLT3 gene mutation in acute promyelocytic leukemia (APL) patients with extramedullary relapse.
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[Karyotype analysis of three Lonicera species growth in Sichuan].
Zhong Yao Cai
PUBLISHED: 09-02-2014
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To provide the genetic reference for development and application of Lonicera species growth in Sichuan.
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[Induction on callus culture and regeneration of Orostachyis fimbriatae].
Zhong Yao Cai
PUBLISHED: 08-06-2014
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To explore the effects of different hormonal combinations on induction, proliferation and differentiation of Orostachyis fimbriatae callus culture.
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Non-Viral Methods For Generating Integration-Free, Induced Pluripotent Stem Cells.
Curr Stem Cell Res Ther
PUBLISHED: 08-03-2014
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Induced pluripotent stem (iPS) cells were created from mouse fibroblasts by induced expression of Yamanaka factors, Oct3/4, Sox2, Klf4, and c-Myc. This technique has quickly resulted in an exponential increase in the amount of pluripotency studies, and has provided a valuable tool in regenerative medicine. At the same time, many methodologies to generate iPS cells have been reported, and are comprised mainly of viral methods and non-viral methods. Although viral methods may not be applicable for clinical applications, various non-viral methods have been reported in recent years, including DNA vector-based approaches, transfection of mRNA, transduction of reprogramming proteins, and use of small molecule compounds. This review summarizes and evaluates these non-viral methods.
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Transplantation of endothelial progenitor cells for improving placental perfusion in preeclamptic rats.
Arch. Gynecol. Obstet.
PUBLISHED: 07-21-2014
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Effective treatments for preeclampsia are currently unavailable. As endothelial progenitor cell-transplantation may improve ischemia, it is an important undertaking to study the role of endothelial progenitor cells for improving the symptom of preeclampsia.
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[Research advances in pathogenesis of anti-N-methyl-D-aspartate receptor encephalitis].
Zhongguo Dang Dai Er Ke Za Zhi
PUBLISHED: 06-14-2014
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Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most prevalent type of encephalitis. Investigating the pathogenesis of anti-NMDAR encephalitis will enhance our understanding of this disease and play a central part in providing reasonable treatment for the patients. The pathogenesis is elucidated as follows: (1) the findings of the relationship between anti-NMDAR encephalitis and tumors; (2) further research on the relationship between anti-NMDAR encephalitis and tumors; (3) NMDAR epitopes and the autoimmunity of patients; (4) the interaction between antibody and NMDAR; (5) the pathogenesis of anti-NMDAR encephalitis without tumors. This review gives a brief introduction to the methodology and way of finding out the valuable clinical problems and making a clear and explicit explanation of them by exhibiting the process of discovering the disease, disclosing its relationship with tumors, and investigating its pathological and molecular mechanism. Current studies have demonstrated that anti-NMDAR encephalitis is an autoimmune disease of the nervous system that is closely associated with tumors, particularly ovarian teratoma.
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Water Extract of Fructus Hordei Germinatus Shows Antihyperprolactinemia Activity via Dopamine D2 Receptor.
Evid Based Complement Alternat Med
PUBLISHED: 05-12-2014
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Objective. Fructus Hordei Germinatus is widely used in treating hyperprolactinemia (hyperPRL) as a kind of Chinese traditional herb in China. In this study, we investigated the anti-hyperPRL activity of water extract of Fructus Hordei Germinatus (WEFHG) and mechanism of action. Methods. Effect of WEFHG on serum prolactin (PRL), estradiol (E2), progesterone (P), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and hypothalamus protein kinase A (PKA) and cyclic adenosine monophosphate (cAMP) levels of hyperPRL rats were investigated. And effect of WEFHG on PRL secretion, D2 receptors, and dopamine transporters (DAT) was studied in MMQ, GH3, and PC12 cells, respectively. Results. WEFHG reduced the secretion of PRL in hyperPRL rats effectively. In MMQ cell, treatment with WEFHG at 1-5?mg/mL significantly suppressed PRL secretion and synthesis. Consistent with a D2-action, WEFHG did not affect PRL in rat pituitary lactotropic tumor-derived GH3 cells that lack the D2 receptor expression but significantly increased the expression of D2 receptors and DAT in PC12 cells. In addition, WEFHG reduced the cAMP and PKA levels of hypothalamus in hyperPRL rats significantly. Conclusions. WEFHG showed anti-hyperPRL activity via dopamine D2 receptor, which was related to the second messenger cAMP and PKA.
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High p-Smad2 expression in stromal fibroblasts predicts poor survival in patients with clinical stage I to IIIA non-small cell lung cancer.
World J Surg Oncol
PUBLISHED: 04-28-2014
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Increasing evidence indicates that the TGF?/Smad signaling pathway plays a prominent role in tumor initiation, progression, and metastasis. Therefore, we investigate the expression of p-Smad2 in surgical resection specimens from non-small cell lung cancer, and evaluate the prognostic significance of p-Smad2 expression in stromal fibroblasts and cancer cells for patients with clinical stage I to IIIA non-small cell lung cancer.
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[Determination of organochlorine pesticides in water using solidification of floating organic drop liquid phase microextraction by gas chromatography].
Sichuan Da Xue Xue Bao Yi Xue Ban
PUBLISHED: 04-23-2014
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To develop a new method for simultaneous determination of eight organochlorine pesticides (OCPs) in water samples using solidification floating organic drop liquid-phase microextraction (SFO-LPME) combined with gas chromatography-electronic capture detector (GC-ECD).
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Xanthoceraside ameliorates mitochondrial dysfunction contributing to the improvement of learning and memory impairment in mice with intracerebroventricular injection of a?1-42.
Evid Based Complement Alternat Med
PUBLISHED: 04-04-2014
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The effects of xanthoceraside on learning and memory impairment were investigated and the possible mechanism associated with the protection of mitochondria was also preliminarily explored in Alzheimer's disease (AD) mice model induced by intracerebroventricular (i.c.v.) injection of A?1-42. The results indicated that xanthoceraside (0.08-0.32?mg/kg) significantly improved learning and memory impairment in Morris water maze test and Y-maze test. Xanthoceraside significantly reversed the aberrant decrease of ATP levels and attenuated the abnormal increase of ROS levels both in the cerebral cortex and hippocampus in mice injected with A?1-42. Moreover, xanthoceraside dose dependently reversed the decrease of COX, PDHC, and KGDHC activity in isolated cerebral cortex mitochondria of the mice compared with A?1-42 injected model mice. In conclusion, xanthoceraside could improve learning and memory impairment, promote the function of mitochondria, decrease the production of ROS, and inhibit oxidative stress. The improvement effects on mitochondria may be through withstanding the damage of A? to mitochondrial respiratory chain and the key enzymes in Kreb's cycle. Therefore, the results from present study and previous study indicate that xanthoceraside could be a competitive candidate for the treatment of AD.
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Decline of serum CA724 as a probable predictive factor for tumor response during chemotherapy of advanced gastric carcinoma.
Chin. J. Cancer Res.
PUBLISHED: 03-19-2014
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To evaluate the predictive value of decline in the serum level of carbohydrate antigen 724 (CA724) on tumor response during the chemotherapy in patients with advanced gastric carcinoma (GC).
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Effect of cholic acid on fetal cardiac myocytes in intrahepatic choliestasis of pregnancy.
J. Huazhong Univ. Sci. Technol. Med. Sci.
PUBLISHED: 03-10-2014
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This study examined the effect of cholic acid (CA) on cultured cardiac myocytes (CMs) from neonatal rats with an attempt to explore the possible mechanism of sudden fetal death in intrahepatic cholestasis of pregnancy (ICP). Inverted microscopy was performed to detect the impact of CA on the beating rates of rat CMs. MTT method was used to study the effect of CA on the viability of CMs. CMs cultured in vitro were incubated with 10 ?mol/L Ca(2+)-sensitive fluorescence indicator fluo-3/AM. The fluorescence signals of free calcium induced by CA were measured under a laser scanning confocal microscope. The results showed that CA decreased the beating rates of the CMs in a dose-dependent manner. CA could suppress the activities of CMs in a time- and dose-dependent manner. CA increased the concentration of intracellular free calcium in a dose-dependent manner. Our study suggested that CA could inhibit the activity of CMs by causing calcium overload, thereby leading to the sudden fetal death in ICP.
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Transforming growth factor-?1 and ?-smooth muscle actin in stromal fibroblasts are associated with a poor prognosis in patients with clinical stage I-IIIA nonsmall cell lung cancer after curative resection.
Tumour Biol.
PUBLISHED: 03-10-2014
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The aims of this study were to investigate the expression of transforming growth factor-?1 (TGF-?1) and ?-smooth muscle actin (?-SMA) in surgical resection specimens from nonsmall cell lung cancer (NSCLC) and to evaluate the prognostic significance of this gene expression in stromal fibroblasts for patients with clinical stage I-IIIA NSCLC. The immunohistochemical expression of TGF-?1 and ?-SMA was evaluated in 78 formalin-fixed paraffin-embedded tumor specimens from clinical stage I-IIIA NSCLC. Correlations between this gene expression and the clinicopathologic characteristics were determined by chi-square test. The prognostic impact of this gene expression in stromal fibroblasts with regard to overall survival (OS) was determined by Kaplan-Meier and Cox hazard proportional model. The percentages of high TGF-?1 expression in stromal fibroblasts and cancer cells were 19.2 % (15/78) and 35.9 % (28/78), respectively. There were 28.2 % (22/78) of patients with high ?-SMA expression in stromal fibroblasts. The analysis revealed a significant positive association between TGF-?1 expression in stromal fibroblasts and in cancer cells (? (2)?= 4.86, p = 0.03). No significant association was found between TGF-?1 in cancer cells and ?-SMA expression in stromal fibroblasts (? (2)?= 0.978, p = 0.326). The 3-year OS rates with low and high TGF-?1 expression in stromal fibroblasts were 52.4 and 26.7 %, respectively (? (2)?= 5.42, p = 0.019). The 3-year OS rates with low and high ?-SMA expression in stromal fibroblasts were 53.9 and 31.0 %, respectively (? (2)?=5.01, p=0.025). The multivariate analysis revealed that clinical stage and TGF-?1 and ?-SMA expression levels in stromal fibroblasts were identified as independent predictive factors of OS. The results suggest that the expression level of TGF-?1 and ?-SMA in stromal fibroblasts may have prognostic significance in patients with clinical stage I-IIIA NSCLC after curative resection.
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[Immunomodulatory effect of UC-MSC on function of immunocytes of rats with collagen type II induced arthritis].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
PUBLISHED: 03-07-2014
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This study was purposed to observe the influence of umbilical cord mesenchymal stem cells (UC-MSC) on the peripheral blood CD4(+)CD25(+)regulatory T cells (Treg), Th17 cells and neutrophils in rats with collagen type II-induced arthritis(CIA), and to explore the regulating effect of UC-MSC transplantation on immunocyte subgroup. The rats wee divided into 3 groups: CIA group (model group), UC-MSC treated group and blank control group. The CIA rats were injected with UC-MSC via tail vein. The percentage of CD4(+)CD25(+) cells in peripheral blood and the expression of NCD11b on neutrophil surface in CIA rates was detected by flow cytometry (FCM), and the serum interleukin-17 (IL-17) was observed by enzyme-linked immunosorbent assay (ELISA). The results showed that the mean fluorescence intensity(MFI) of NCD11b and the level of IL-17 in the model group were significantly higher than those in the blank control group, and the ratio of CD4(+)CD25(+) cells were significantly lower (P < 0.05). The MIF of NCD11b and the level of IL-17 in the UC-MSC treated group were significantly lower than that in the model group (P < 0.05), while the proportion of CD4(+)CD25(+) Treg increased (P < 0.05). Since the fifth week, the above indicators in the UC-MSC group have almostly approached the control group. It is concluded that the UC-MSC can increase peripheral blood Treg proportion in CIA rat, inhibit the secretion of Th17 and the activity of neutrophils, reduce the immune inflammation reaction, decrease the release of proinflammatory factor, and induce immune reconstruction.
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[Down-regulatory effects of budesonide on expression of STAT6 and ORMDL3 in lung tissues of asthmatic mice].
Zhongguo Dang Dai Er Ke Za Zhi
PUBLISHED: 02-27-2014
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To investigate the roles of signal transduction and activator of transcription 6 (STAT6) and orosomucoid 1-like 3 (ORMDL3) in airway remodeling among asthmatic mice and to observe the effects of budesonide (BUD) on their expression.
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Febrile seizure recurrence reduced by intermittent oral levetiracetam.
Ann Clin Transl Neurol
PUBLISHED: 02-24-2014
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Febrile seizure (FS) is the most common form of childhood seizure disorders. FS is perhaps one of the most frequent causes of admittance to pediatric emergency wards worldwide. We aimed to identify a new, safe, and effective therapy for preventing FS recurrence.
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Ultrasound microbubble-mediated delivery of integrin-linked kinase gene improves endothelial progenitor cells dysfunction in pre-eclampsia.
DNA Cell Biol.
PUBLISHED: 02-24-2014
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Pre-eclampsia (PE) is a specific vascular complication in pregnancy whose precise mechanism is still unclear. We hypothesized that endothelial progenitor cells (EPCs), the precursor of endothelial cells, might be impaired in patients with PE and hold a great promise for the treatment of PE. In the present study, we analyzed the EPCs number and expression of integrin-linked kinase (ILK) in PE patients. We confirmed that both EPCs number and ILK expression were diminished in PE patients. Next, we transfected EPCs with ILK gene using ultrasonic microbubble technique (UMT) for the first time, as UMT is a novel type of gene transfer technology showing promising applications in stem cells apart from EPCs. To further investigate the transfection efficiency of UMT, RT-PCR analysis and western blot were used to examine the messenger RNA (mRNA) and protein level of ILK. After transfection of the ILK gene, EPCs function was tested to illustrate the role of ILK in cell proliferation, apoptosis, migration, and secretion. The results of the in vitro study suggested that UMT, a novel gene delivery system, could be considered a potent physical method for EPCs transfection. Moreover, the growth and angiogenetic properties of EPCs are enhanced by introducing ILK. This study may afford a new trend for EPCs transfection and gene therapy in PE.
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Allium Vegetables and Garlic Supplements Do Not Reduce Risk of Colorectal Cancer, Based on Meta-analysis of Prospective Studies.
Clin. Gastroenterol. Hepatol.
PUBLISHED: 02-19-2014
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Laboratory studies have provided evidence that allium vegetables and garlic supplements might protect against colorectal cancer (CRC), but epidemiologic studies have produced inconsistent findings.
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[Simultaneous determination of adrenaline, noradrenaline, cortisone and cortisol in plasma with HPLC/MS/MS].
Sichuan Da Xue Xue Bao Yi Xue Ban
PUBLISHED: 02-18-2014
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To develop a method for simultaneous determination of adrenaline, noradrenaline, cortisone and cortisol in plasma using HPLC/MS/MS.
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Parity and pancreatic cancer risk: evidence from a meta-analysis of twenty epidemiologic studies.
Sci Rep
PUBLISHED: 02-17-2014
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Multiple studies have hypothesized parity is associated with pancreatic cancer risk but obtained conflicting results. We conducted a meta-analysis (including a dose-response approach) of current available epidemiologic studies to investigate the association between parity and risk of pancreatic cancer. Ten cohort studies and ten case-control studies including 8205 cases were eligible for inclusion. The combined RR (relative risk) of pancreatic cancer for the parous vs. nulliparous was 0.91 (95% CI, confidence interval = 0.85-0.97, I(2) = 39.0%, P(h) = 0.01). We observed an inverse association between giving birth to two children pancreatic cancer risk with RR of 0.86 (95% CI = 0.80-0.93, I(2) = 8.7%, P(h) = 0.36). And no evidence supported there was non-linear (P = 0.33) or linear relationship (P = 0.14) between number of parity and risk of pancreatic cancer. Findings from this meta-analysis indicate that giving birth to two children has the lowest pancreatic cancer risk, mechanism of this protective effect needs further investigation.
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Proteomic analysis on infantile spasm and prenatal stress.
Epilepsy Res.
PUBLISHED: 02-12-2014
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Infantile spasms (IS) are an age-dependent epileptic encephalopathy with severe cognitive dysfunction. Prenatal stress (PS) has been reported to increase the risk for IS through clinical and animal studies. We aim to investigate the mechanism of brain damage caused by IS and the effect of PS. Animals were divided into 4 groups: PS-spasm model, PS-saline control, NS-spasm model, and saline control. N-methyl-d-aspartate (NMDA) was used to induce spasm and swimming in cold water was used to induce PS. A proteomics-based approach was used to compare the NS-spasm model vs. saline control, and PS-spasm model vs. NS-spasm model. Gel image analysis was followed by mass spectrometric protein identification and bioinformatics analysis. We observed an increased spasm frequency (t=8.65, P<0.001), and a shorter latency period (t=3.96, P<0.001) in the PS-spasm model vs. the NS-spasm model. In the NS-spasm model vs. saline control, the main differentially expressed proteins were CFL1, PKM2, PRPS2, DLAT, CKB, DPYSL3, and SNAP25. In the PS-spasm model vs. NS-spasm model, MDH1 and YWHAZ were differentially expressed. YWHAZ was directly connected with CFL1 in protein networks. YWHAZ and CFL1 were further validated by Western blot analysis. The biological function of differentially expressed proteins indicates the pathogenesis of IS maybe relevant to energy metabolism, brain development, and neural remodeling. PS aggravated seizures in the NMDA-induced spasm model, YWHAZ, and CFL1 may be involved.
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8p22-23-rs2254546 as a susceptibility locus for Kawasaki disease: a case-control study and a meta-analysis.
Sci Rep
PUBLISHED: 02-12-2014
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8p22-23-rs2254546 was firstly discovered to be associated with Kawasaki disease (KD) susceptibility by a genome-wide association study. However, only one Chinese replication study has been performed so far. To verify this association in another Chinese population, a hospital-based case-control study in Zhejiang province was conducted followed by an integrated meta-analysis, comprising five case-control studies of 1958 cases, 5615 controls and four transmission disequilibrium tests of 503 trios. In our case-control study, significant associations were observed between GG genotype or GG/GA genotypes of rs2254546 and increased KD risk (OR = 1.86, 95% CI = 1.01-3.41, P = 0.045; OR = 1.83, 95% CI = 1.01-3.33, P = 0.048), compared with AA genotype; however, no significant association was found in allelic model (OR = 1.20, 95% CI = 0.96-1.50, P = 0.117). The meta-analysis further revealed that the G allele was significantly associated with the increased KD risk without evidence of heterogeneity (OR = 1.55, 95% CI = 1.42-1.70, P < 0.001). In conclusion, rs2254546 polymorphism might significantly contribute to the risk of KD.
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The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants.
Sci Rep
PUBLISHED: 02-03-2014
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Ca(2+)/nuclear factor of activated T-cells (Ca(2+)/NFAT) signaling pathway may play a crucial role in Kawasaki disease (KD). We investigated 16 genetic variants, selected by bioinformatics analyses or previous studies, in 7 key genes involved in this pathway in a Chinese population. We observed a significantly or marginally increased KD risk associated with rs2720378 GC + CC genotypes (OR = 1.39, 95% CI = 1.07-1.80, P = 0.014) or rs2069762 AC + CC genotypes (OR = 1.28, 95% CI = 0.98-1.67, P = 0.066), compared with their wild type counterparts. In classification and regression tree analysis, individuals carrying the combined genotypes of rs2720378 GC or CC genotype, rs2069762 CA or CC genotype and rs1561876 AA genotype exhibited the highest KD risk (OR = 2.12, 95% CI = 1.46-3.07, P < 0.001), compared with the lowest risk carriers of rs2720378 GG genotype. Moreover, a significant dose effect was observed among these three variants (Ptrend < 0.001). In conclusion, this study implicates that single- and multiple-risk genetic variants in this pathway might contribute to KD susceptibility. Further studies on more comprehensive single nucleotide polymorphisms, different ethnicities and larger sample sizes are warranted, and the exact biological mechanisms need to be further clarified.
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Genetic variants in the SWI/SNF complex and smoking collaborate to modify the risk of pancreatic cancer in a Chinese population.
Mol. Carcinog.
PUBLISHED: 01-28-2014
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Pancreatic cancer (PC) is an aggressive malignancy with extremely low 5-year survival rate (<5%). SWItch/Sucrose Non Fermentable (SWI/SNF) complex is a core factor for chromatin-remodeling that utilize energy of ATP hydrolysis to mobilize nucleosomes, and modulate gene transcription. Recent studies have identified recurrent mutations in major components of SWI/SNF in a variety of human cancers, including PC. We conducted a two-stage case-control study to investigate the associations between 14 common variants in 6 genes (SMARCA4, SMCRB1, PBRM1, BRD7, ARID1, and ARID2) encoding major components of the SWI/SNF complex and the risk of PC. Three promising variants, rs11644043, rs11085754, and rs2073389 in the discovery stage comprising 310 cases and 457 controls were further genotyped in the validation stage containing 429 cases and 585 controls. rs11644043 in BRD7 and rs11085754 in SMARCA4 showed consistent significant association with increased risk of PC in both stages, with odds ratios (ORs) and 95% confidence interval (CI) of 2.04 (1.17-3.56) and 1.64 (1.16-2.33) in stage one, and 1.97 (1.24-3.14) and 1.45 (1.04-2.02) in stage two, respectively in a recessive model. Furthermore, the accumulative effects of rs11644043, rs11085754, and rs2073389 in SMARCB1 were observed (P for trend <0.0001). Intriguingly, gene-environmental interactions analysis consistently revealed the potential interactions of rs2073389 (Padd ?-?FDR?=?6.00?×?10(-4) , Pmul ?-?FDR?=?1.50?×?10(-2) ) and rs11085754 (Padd ?-?FDR?=?0.03) collaborating with smoking to modify the risk of PC. In conclusion, the current study provides evidence that genetic variants of SWI/SNF may contribute to the susceptibility of PC in the Chinese population. © 2014 Wiley Periodicals, Inc.
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Square wave anodic stripping voltammetric determination of Cd²? and Pb²? at bismuth-film electrode modified with electroreduced graphene oxide-supported thiolated thionine.
Talanta
PUBLISHED: 01-26-2014
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Graphene oxide (GO)-thionine (TH) nanocomposite was prepared by ?-? stacking. The nanocomposite was cast-coated on a glassy carbon electrode (GCE) to prepare an electroreduced GO (ERGO)-TH/GCE, then 2-mercaptoethanesulfonate (MES) was covalently tethered to ERGO-TH by potentiostatic anodization to form an ERGO-TH-MES/GCE. The thiolation reaction was monitored by electrochemical quartz crystal microbalance (EQCM). Square wave anodic stripping voltammetry (SWASV) was used to determine Cd(2+) and Pb(2+) at the ERGO-TH-MES/GCE further modified with Nafion and Bi. Under the optimal conditions, the linear calibration curves for Cd(2+) and Pb(2+) are from 1 to 40 ?g L(-1), with limits of detection (S/N=3) of 0.1 ?g L(-1) for Cd(2+) and 0.05 ?g L(-1) for Pb(2+), respectively. The electrode was used for the simultaneous analysis of Cd(2+) and Pb(2+) in water samples with satisfactory recovery.
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Genetic variant in SWI/SNF complexes influences hepatocellular carcinoma risk: a new clue for the contribution of chromatin remodeling in carcinogenesis.
Sci Rep
PUBLISHED: 01-24-2014
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Chromatin remodeling has been newly established as an important cancer genome characterization and recent exome and whole-genome sequencing studies of hepatocellular carcinoma (HCC) showed that recurrent inactivating mutations in SWI/SNF subunits involved in the molecular basis of hepatocarcinogenesis. To test the hypothesis that genetic variants in the key subunits of SWI/SNF complexes may contribute to HCC susceptibility, we systematically assessed associations of genetic variants in SWI/SNF complexes with HCC risk using a two-staged case-control study in Chinese population. A set of 24 single nucleotide polymorphisms (SNPs) in SWI/SNF complexes were examined in stage 1 with 502 HCC patients and 487 controls and three promising SNPs (SMARCA4 rs11879293, rs2072382 and SMARCB1 rs2267032) were further genotyped in stage 2 comprising 501 cases and 545 controls for validation. SMARCA4 rs11879293 presented consistently significant associations with the risk of HCC at both stages, with an OR of 0.73 (95% CI: 0.62-0.87) using additive model in combined analysis. Moreover, the decreased risk of HCC associated with SMARCA4 rs11879293 AG/AA was more evident among HBsAg positive individuals (OR = 0.47, 95% CI: 0.27-0.80) in combined analysis. The study highlighted the potential role of the SWI/SNF complexes in conferring susceptibility to HCC, especially modified HCC risk by HBV infection.
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Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.
Am. J. Med. Genet. B Neuropsychiatr. Genet.
PUBLISHED: 01-22-2014
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Autism spectrum disorder (ASD) is a severe neurological disorder with a high degree of heritability. Reelin gene (RELN), which plays a crucial role in the migration and positioning of neurons during brain development, has been strongly posed as a candidate gene for ASD. Genetic variants in RELN have been investigated as risk factors of ASD in numerous epidemiologic studies but with inconclusive results. To clearly discern the effects of RELN variants on ASD, the authors conducted a meta-analysis integrating case-control and transmission disequilibrium test (TDT) studies published through 2001 to 2013. Odds ratios (ORs) with 95% confidence intervals were used to estimate the associations between three RELN variants (rs736707, rs362691, and GGC repeat variant) and ASD. In overall meta-analysis, the summary ORs for rs736707, rs362691, and GGC repeat variant were 1.11 [95% confidence interval (CI): 0.80-1.54], 0.69 (95% CI: 0.56-0.86), and 1.09 (95% CI: 0.97-1.23), respectively. Besides, positive result was also obtained in subgroup of broadly-defined ASD for rs362691 (OR = 0.67, 95% CI: 0.52-0.86). Our meta-analysis revealed that the RELN rs362691, rather than rs736707 or GGC repeat variant, might contribute significantly to ASD risk.
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Xanthoceraside rescues learning and memory deficits through attenuating beta-amyloid deposition and tau hyperphosphorylation in APP mice.
Neurosci. Lett.
PUBLISHED: 01-21-2014
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Xanthoceraside, a triterpenoid saponin, has been shown to reverse cognitive deficits in several Alzheimer's disease (AD) animal models. However, the effects of xanthoceraside on the A? deposition pathology and the APP processing in AD are unclear. Here, we show that xanthoceraside at doses of 0.08 and 0.32 mg/kg/d for 6 months significantly improved learning and memory impairment in APP transgenic mice assessed by the Y maze and novel object recognition tests. Immunohistochemical analyses revealed that xanthoceraside strongly attenuated ?-amyloid deposition in the brains of APP transgenic mice. Western blotting revealed that xanthoceraside decreased tau phosphorylation protein levels at Ser396 and Ser404 in the hippocampus; xanthoceraside also decreased APP protein levels and GSK-3? phosphorylation. These results suggest that xanthoceraside could be a promising novel candidate for the therapy of AD.
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Variants in the 5'-upstream region of GPC5 confer risk of lung cancer in never smokers.
Cancer Epidemiol
PUBLISHED: 01-20-2014
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A recent genome-wide study (GWAS) has identified GPC5 as a promising susceptibility gene for Lung cancer in never smokers (LCINS). However, the most significant single nucleotide polymorphism (SNP) in this GWAS, rs2352028, has yielded controversial results. The aim of this study was to clarify the relationship between rs2352028 and LCINS. Considering that rs2352028 might be largely marker-SNP correlated to causative variants, two predicted functional SNPs, rs3759452 and rs7322083, were additionally investigated in this study.
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Integrative genomic analysis identifies that SERPINA6-rs1998056 regulated by FOXA/ER? is associated with female hepatocellular carcinoma.
PLoS ONE
PUBLISHED: 01-01-2014
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The human forkhead box A1 (FOXA1) and A2 (FOXA2) transcription factors have been found to control estrogen and androgen signaling through co-regulating target genes with sex hormone receptors. Here we used an integrative strategy to examine the hypothesis that genetic variants at FOXA1/2 binding elements may be associated with sexual dimorphism of hepatocellular carcinoma (HCC) risk. Firstly we extracted chromatin immunoprecipitation-sequencing (ChIP-seq) data of FOXA1, FOXA2 and estrogen receptor 1(ER?) from ENCODE database to obtain dual target regions of FOXA/ER?, and further intersected these regions with genes' promoters. Then we used MATCH program to predict FOXA binding elements, in which genetic variants were retrieved by dbSNP database (NCBI, build 134). A total of 15 candidate variants were identified in this stage. Secondly we performed a case-control study with 1,081 HCC patients and 2,008 matched controls and found a significant association of SERPINA6-rs1998056 with female HCC risk under common genetic models (e.g. GG versus CC: OR = 2.03, 95% CI = 1.26-3.27, P = 0.004). Moreover, results from our real-time quantitative polymerase chain reaction (qPCR) using 72 normal liver tissues adjacent to the tumors showed that SERPINA6 expression was significantly different among different genotypes of this variant (GG versus CC: P = 0.032; Group test: P = 0.060). In summary, our study suggested that SERPINA6-rs1998056 regulated by FOXA/ER? might be associated with female HCC risk.
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Association of increased circulating catecholamine and glucocorticoid levels with risk of psychological problems in oral neoplasm patients.
PLoS ONE
PUBLISHED: 01-01-2014
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Noradrenergic pathways and glucocorticoid-mediated signal pathways have been implicated in the growth and progression of oral cancer. Patients with oral neoplasms can have high psychological distress levels, but the effects of stress-related hormones on oral neoplasm growth are unknown.
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Dietary mushroom intake may reduce the risk of breast cancer: evidence from a meta-analysis of observational studies.
PLoS ONE
PUBLISHED: 01-01-2014
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Epidemiological studies have investigated the potential anticancer effects of mushroom intake. This review aims to clarify the evidence on the association of dietary mushroom intake with breast cancer risk and to quantify its dose-response relationship. Relevant studies were identified by a search of PubMed, Web of Science and Google Scholar up to December 31, 2013. Observational studies with relative risks (RRs) or hazard ratios (HRs) or odd ratios (ORs) and 95% confidence intervals (CIs) of breast cancer for three or more categories of mushroom intake were eligible. The quality of included studies was assessed by using Newcastle-Ottawa Scale. A dose-response meta-analysis was performed by utilizing generalized least squares trend estimation. Eight case-control studies and two cohort studies with a total of 6890 cases were ultimately included. For dose-response analysis, there was no evidence of non-linear association between mushroom consumption and breast cancer risk (P = 0.337) and a 1 g/d increment in mushroom intake conferred an RR of 0.97 (95% CI: 0.96-0.98) for breast cancer risk, with moderate heterogeneity (I(2) = 56.3%, P = 0.015). Besides, available menopause data extracted from included studies were used to evaluate the influence of menopausal statues. The summary RRs of mushroom consumption on breast cancer were 0.96 (95% CI: 0.91-1.00) for premenopausal women and 0.94 (95% CI: 0.91-0.97) for postmenopausal women, respectively. Our findings demonstrated that mushroom intake may be inversely associated with risk of breast cancer, which need to be confirmed with large-scale prospective studies further.
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Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis.
PLoS ONE
PUBLISHED: 01-01-2014
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Congenital heart disease (CHD) is one of the most common birth defects and the leading cause of deaths among individuals with congenital structural abnormalities worldwide. Both Methionine synthase reductase (MTRR) and Methionine synthase (MTR) are key enzymes involved in the metabolic pathway of homocysteine, which are significant in the earlier period embryogenesis, particularly in the cardiac development. Evidence is mounting for the association between MTRR A66G (rs1801394)/MTR A2756G (rs1805087) and the CHD risk, but results are controversial. Therefore, we conducted a meta-analysis integrating case-control and transmitted disequilibrium test (TDT) studies to obtain more precise estimate of the associations of these two variants with the CHD risk.
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New integrated strategy emphasizing infection source control to curb Schistosomiasis japonica in a marshland area of Hubei Province, China: findings from an eight-year longitudinal survey.
PLoS ONE
PUBLISHED: 01-01-2014
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Schistosomiasis remains a major public health problem in China. The major endemic foci are the lake and marshland regions of southern China, particularly the regions along the middle and lower reach of the Yangtze River in four provinces (Hubei, Hunan, Jiangxi, and Anhui). The purpose of our study is to assess the effect of a new integrated strategy emphasizing infection source control to curb schistosomiasis in marshland regions.
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Transperineal ultrasound-guided 12-core prostate biopsy: an extended approach to diagnose transition zone prostate tumors.
PLoS ONE
PUBLISHED: 01-01-2014
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Transperineal ultrasound-guided (TPUS) 12-core prostate biopsy was evaluated as an initial strategy for the diagnosis of prostate cancer, The distribution of prostate cancer lesions was assessed with zone-specific biopsy.
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[Characterization of microbial activities in marine mudflat sediment using FDA hydrolase analysis].
Huan Jing Ke Xue
PUBLISHED: 12-25-2013
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A method based on fluorescence spectrometry was developed to detect the microbial activities in marine mudflat sediment, where is characterized by high salinity, complex organic compounds and low microbial biomass. This paper optimized the sample extracts, the detection equipment for reaction products, the pretreatment methods, and the experimental conditions. The optimal procedure is described as following. Fresh sediment was first extracted with sterilized and aged seawater, followed by the addition of Tween-80 solution, then uniformly dispersed by thorough oscillating, and kept steady for precipitation. After filtration through a sterilized membrane (1. 2 microm, sterilized in boiling water repeatedly) , the supernatant was supplemented with an appropriate amount of FDA solution and allowed to react in dark for 180 min at temperature ranged 25-30 degrees C . The reaction was terminated by the addition of acetone, and the fluorescence intensity of the reaction mixture was measured within 25 min using a molecular fluorescence photometer at an excitation wavelength of 488 nm and an emission wavelength of 530 nm, and the detection range of this method (dry weight) was 3.0 x10(3)-1. 1 x 10(5) ind.g-1. The microbial activity was reported as fluorescence content in per unit sediment mass (microg.g-1, dry weight).
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Simultaneous analysis of dopamine and homovanillic acid by high-performance liquid chromatography with wall-jet/thin-layer electrochemical detection.
Analyst
PUBLISHED: 10-10-2013
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Wall-jet/thin-layer amperometric electrochemical detection (ECD) coupled with high-performance liquid chromatography (HPLC) was used here for the simultaneous analysis of dopamine (DA) and homovanillic acid (HVA) at a glassy carbon electrode. Compared with the conventional thin-layer mode and wall-jet mode, the presented wall-jet/thin-layer ECD has the advantages of enhanced capture of electroactive DA and HVA on the working electrode to give enhanced responses and more convenient washing/refreshment of the working electrode surface. Under optimized conditions, the HPLC-ECD calibration curves show good linearity from 0.01 to 100 ?M for DA and HVA, and the limits of detection (LODs) obtained were 1.1 nM for DA and 0.7 nM for HVA which are lower than those obtained with an UV-vis detector and a commercial electrochemical detector. The method was tested on human urine with satisfactory results. The balance of response-signal, signal-background and noise level for our HPLC-ECD system is also discussed. In addition, a demethylation electrooxidation mechanism for HVA is suggested through potentiostatic bulk electrolysis, electrospray ionization-mass spectrometry, fluorescent spectrophotometry and cyclic voltammetry studies.
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Cell-penetrating Peptide-mediated therapeutic molecule delivery into the central nervous system.
Curr Neuropharmacol
PUBLISHED: 09-03-2013
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The blood-brain barrier (BBB), a dynamic and complex barrier formed by endothelial cells, can impede the entry of unwanted substances - pathogens and therapeutic molecules alike - into the central nervous system (CNS) from the blood circulation. Taking into account the fact that CNS-related diseases are the largest and fastest growing unmet medical concern, many potential protein- and nucleic acid-based medicines have been developed for therapeutic purposes. However, due to their poor ability to cross the BBB and the plasma membrane, the above-mentioned bio-macromolecules have limited use in treating neurological diseases. Finding effective, safe, and convenient ways to deliver therapeutic molecules into the CNS is thus urgently required. In recent decades, much effort has been expended in the development of drug delivery technologies, of which cell-penetrating peptides (CPPs) have the most promising potential. The present review covers the latest advances in CPP delivery technology, and provides an update on their use in CNS-targeted drug delivery.
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Xanthoceraside inhibits pro-inflammatory cytokine expression in A?25-35/IFN-?-stimulated microglia through the TLR2 receptor, MyD88, nuclear factor-?B, and mitogen-activated protein kinase signaling pathways.
J. Pharmacol. Sci.
PUBLISHED: 08-23-2013
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An accumulating body of evidence suggests that Alzheimers disease (AD) is associated with microglia-mediated neuroinflammation and pro-inflammatory cytokine expression. Therefore, the suppression of neuroinflammation and pro-inflammatory cytokine might theoretically slow down the progression of AD. Xanthoceraside, a novel triterpenoid saponin extracted from the husks of Xanthoceras sorbifolia Bunge, has potent antiinflammatory and neuroprotective effects. However, the molecular mechanism underlying its anti-inflammatory action remains unclear. In the present study, we attempted to determine the effects of xanthoceraside on the production of pro-inflammatory mediators in amyloid ?25-35 (A?25-35)/interferon-? (IFN-?)-stimulated microglia. Our results indicated that xanthoceraside (0.01 and 0.1 ?M) significantly inhibited the release of nitric oxide (NO) and pro-inflammatory cytokines interleukin-1? and tumor necrosis factor-? in a concentration-dependent manner. Reverse transcriptase-polymerase chain reaction and western blotting analyses showed that xanthoceraside decreased the A?25-35/IFN-?-induced production of cyclooxygenase-2 and inducible NO synthase. These effects were accompanied by inhibited activities of nuclear?factor-?B and mitogen-activated protein kinase through Toll-like receptor 2 in a myeloid differentiation protein 88-dependent manner. Our results provide support for the therapeutic potential of xanthoceraside in AD.
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5% CO2 inhalation suppresses hyperventilation-induced absence seizures in children.
Epilepsy Res.
PUBLISHED: 08-21-2013
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Hyperventilation can cause respiratory alkalosis by exhaling CO2, and is often used to confirm diagnosis of absence epilepsy. CO2 has long been known for its anticonvulsant properties since the 1920s. In this pilot study, we aimed to determine whether inhaling medical carbogen containing 5% CO2 and 95% O2 can suppress hyperventilation-induced absence seizures and spike-and-wave discharges (SWDs). We examined 12 patients whose absence seizures were induced by hyperventilation using video electroencephalographic recording for at least 4h. The patients were asked to hyperventilate for 3min while breathing the following gases: (1) room air (12 patients); (2) carbogen (12 patients); and (3) 100% O2 (8 patients). Eight out of twelve patients were also examined in room air through pretreatment with carbogen for 3min before the 3min hyperventilation. Compared with hyperventilation in room air, hyperventilation supplemented with 5% CO2 had the following effects: (a) decrease in the number and duration of seizures; (b) prolonged appearance of epileptic discharges; and (c) reduction in the number and duration of SWDs (P<0.001). However, pretreatment with 5% CO2 and 100% O2 supplement did not yield similar effects. We demonstrated that 5% CO2 could suppress hyperventilation-induced absence seizures and SWDs, supporting the claim that 5% CO2 is an effective anticonvulsant agent. Our pilot study provides clinical basis that 5% CO2 inhalation could be a therapeutic approach for hyperventilation-related seizures.
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Protective effect of xanthoceraside against ?-amyloid-induced neurotoxicity in neuroblastoma SH-SY5Y cells.
J Asian Nat Prod Res
PUBLISHED: 08-05-2013
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?-Amyloid (A?)-induced neurotoxicity is a major pathological mechanism of Alzheimers disease (AD). Xanthoceraside, a triterpene extracted from the husk of Xanthoceras sorbifolia Bunge, has been shown to have therapeutic effects on learning and memory impairment induced by A? intracerebroventricular infusion in mice. In this study, we investigated the effect of xanthoceraside on the neurotoxicity of A?25-35 in SH-SY5Y cells. Cell viability was measured by MTT (3-(3,4-dimethylthiazol-2-yl)-2,5-diphenyl-tetrazolium bromide) assay. Cell apoptosis, reactive oxygen species (ROS) generation, and mitochondrion membrane potential (MMP) were measured using Annexin V/propidium iodide, 2,7-dichlorofluorescein diacetate, and rhodamine 123 with flow cytometry, respectively. Intracellular calcium level was determined with Fura-2/AM. Caspase-3 activity in cell lysates was measured using the spectrophotometric method. Results indicated that pretreatment with xanthoceraside (0.01 and 0.1 ?M) obviously increased the viability of SH-SY5Y cells injured by A?25-35 in a dose-dependent manner. A?25-35-induced early apoptosis, ROS overproduction, MMP dissipation, intracellular calcium overload, and increase in caspase-3 activity were markedly reversed by xanthoceraside. These findings suggested that xanthoceraside might be useful in the prevention and treatment of AD.
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Efficacy of Levetiracetam in Electrical Status Epilepticus During Sleep of Children: A Multicenter Experience.
Pediatr. Neurol.
PUBLISHED: 08-02-2013
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Electrical status epilepticus during sleep is characterized by epilepsy, a specific electroencephalographic pattern, and neuropsychological impairment. This study aims to evaluate the efficacy and safety of levetiracetam in treating children with electrical status epilepticus during sleep.
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Lack of Association Between Factor V Leiden and Sepsis: A Meta-Analysis.
Clin. Appl. Thromb. Hemost.
PUBLISHED: 06-28-2013
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Some studies evaluated the association of factor V Leiden (FVL) with sepsis risk and mortality risk. However, the results were conflicting. Thus, we performed a meta-analysis to address the association between FVL and sepsis. PubMed and EMBASE databases were searched to find relevant studies. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using random effects model. Five case-control studies and 3 cohort studies were included. Overall, no significant association between FVL and sepsis risk was observed (OR = 0.93; 95% CI 0.74-1.15; P = .49). In addition, there was no significant association between FVL and sepsis-related mortality (OR = 1.17; 95% CI 0.73-1.88; P = .52). In the subgroup analysis, no increased sepsis risk and mortality risk were found in caucasian population. This meta-analysis suggested that FVL was not a risk factor for sepsis and sepsis mortality.
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Association of serotonin transporter polymorphisms with responsiveness to adrenocorticotropic hormone in infantile spasm.
World J Pediatr
PUBLISHED: 06-17-2013
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Serotonin or 5-hydroxytryptamine (5-HT) is an important neurotransmitter in the central nervous system. The serotonin transporter (5-HTT) is a key regulator of the level of serotonergic neurotransmission. In the present study, the contribution of 5-HTT polymorphisms to the risk of infantile spasm (IS) and the responsiveness to adrenocorticotropic hormone (ACTH) were investigated.
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Kleinhospitines A-D, new cycloartane triterpenoid alkaloids from Kleinhovia hospita.
Org. Lett.
PUBLISHED: 05-24-2013
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Kleinhospitines A-D, four unprecedented cycloartane triterpenoid alkaloids possessing a spiro ?,?-unsaturated ?-lactamlactone side chain, were isolated as two mixtures of C-23 epimers from Kleinhovia hospita. Kleinhospitines C and D represent the first examples of naturally occurring cycloartane triterpenoids with a 9?,10?-cyclopropyl ring. The structures and absolute configurations were determined on the basis of spectroscopic analyses and comprehensive quantum chemical calculations. The two mixtures showed hepatoprotective activity against H2O2-induced oxidative damages on primary cultured rat hepatocytes with EC50 values of 167.0 and 126.5 ?M.
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Non-linear dose-response relationship between cigarette smoking and pancreatic cancer risk: Evidence from a meta-analysis of 42 observational studies.
Eur. J. Cancer
PUBLISHED: 05-21-2013
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Question remains about the shape of the dose-response relationship between cigarette smoking and pancreatic cancer risk.
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Genetic variations in TERT-CLPTM1L locus are associated with risk of lung cancer in Chinese population.
Mol. Carcinog.
PUBLISHED: 04-02-2013
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Recent genome-wide association studies (GWAS) have reported multiple genetic variations at 5p15.33 (TERT-CLPTM1L) associated with risk of lung cancer. However, most of the associated variations identified by GWAS thus far are unlikely to be the actual causal variants, but may be mostly marker-single nucleotide polymorphisms tagging functional variations that influence gene expression. This study aimed to explore the function-validated and potentially functional variations in TERT-CLPTM1L locus conferring susceptibility to lung cancer. A case-control study including 502 cases and 502 controls in Chinese Han population was firstly conducted. Bioinformatic approaches are applied to prioritize genetic variations based on their potential functionality. In the logistic regression analysis, TERT-rs2853669, rs2736108, and CLPTM1L-rs31490 were significant associated with increased risk of lung cancer (OR = 1.46, 95% CI = 1.22-1.75; OR = 1.22, 95% CI = 1.00-1.49 and OR = 1.74, 95% CI = 1.35-2.23 under additive model, respectively). The significant associations were observed in non-small-cell lung cancer but not-in-small-cell lung cancer, and more prominent in adenocarcinoma. Haplotype analysis presented a significant allele-dose effect of haplotypes in increasing risk of lung cancer (P for trend = 1.894 × 10(-6)). Moreover, significant multiplicative interactions were observed between smoking and these three polymorphisms of TERT-rs2853669, rs2736108, and CLPTM1L-rs31490, even after bonferroni correction for multiple comparisons (Pinteraction = 1.316 × 10(-9), 3.912 × 10(-4), and 2.483 × 10(-5), respectively). These findings indicated that the function-validated and potentially functional variations in TERT-CLPTM1L locus, modified by smoking, may play a substantial role in the susceptibility to lung cancer.
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AlphaLISA for the determination of median levels of the free ? subunit of human chorionic gonadotropin in the serum of pregnant women.
J Immunoassay Immunochem
PUBLISHED: 03-30-2013
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Measurement of the free ? subunit of human chorionic gonadotropin (free ?-hCG) in serum is useful for prenatal screening. Concentrations of free ?-hCG vary in different races. Conventional assays used for such measurements have limitations. We applied the AlphaLISA to measure levels of free ?-hCG in maternal serum during 8-20 weeks of gestation in women from southern China. Two anti-free ?-hCG antibodies were used: one was coated on AlphaLISA acceptor beads and the one was biotinylated. The assay also contained donor beads coated with streptavidin. The AlphaLISA assay detection limit was 0.11 ng/mL, and the analytical range was 0.11-200 ng/mL. The intra- and interassay coefficients of variation were 1.32%-2.50% and 3.44%-5.45%, respectively. The correlation with commercial Eu(3+)-labeled free ?-HCG-TRFIA assay was good (y = 1.045x + 1.580, r(2) = 0.978). Median levels of free ?-hCG in maternal serum at 8-20 weeks gestation were higher in women from southern China compared with those reported in women from other countries. The AlphaLISA for free ?-HCG could become the assay of choice for applications in clinical diagnostics. The established median value of free ?-HCG is helpful in clinical diagnosis specific for southern Chinese women.
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MicroRNA-126 regulates EPCs function: implications for a role of miR-126 in preeclampsia.
J. Cell. Biochem.
PUBLISHED: 03-26-2013
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Preeclampsia is a specific vascular complication in pregnancy, which has a pathophysiology of altered endothelial homeostasis. There is extensive evidence that endothelial progenitor cells (EPCs) dysfunction underlies the endothelial cells loss that occurs during preeclampsia. MicroRNA-126 (miR-126), an angiogenesis-related miRNA, has been shown to have potential angiogenic effects both in cultured endothelial cells in vitro and ischemia-induced angiogenesis in vivo. However, whether miR-126 has therapeutic potential in placental vasculogenesis of preeclampsia remains unclear. In this report, we analyzed the EPCs number and expression of miR-126 in patients with preeclampsia, then investigated the effects of miR-126 on EPCs function and rat placenta by employing up-regulation and down-regulation strategies. We confirmed that miR-126 enhanced EPCs proliferation, differentiation and migration. However, a strong reduction in EPCs function was observed in vitro after miR-126 inhibitor transfection. MiR-126 exerts pro-angiogenic functions by suppressing the synthetize of antiangiogenic factors PIK3R2. Similar to miR-126 overexpression, PIK3R2 downregulation promoted EPCs function. In pregnant rats, we also found that miR-126 increased vascular sprouting, placenta and fetus weights. These findings suggest that miR-126 is essential for angiogenic properties of EPCs in vitro and placental vasculogenesis in vivo, providing basis for an alternative therapeutic approach in patients with preeclampsia.
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Genetic and biochemical findings in Chinese children with Leigh syndrome.
J Clin Neurosci
PUBLISHED: 03-19-2013
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This study investigated the genetic and enzymological features of Leigh syndrome due to respiratory chain complex deficiency in Chinese patients. The clinical features of 75 patients were recorded. Mitochondrial respiratory chain enzyme activities were determined via spectrophotometry. Mitochondrial gene sequence analysis was performed in 23 patients. Five core pedigrees were investigated via restriction fragment length polymorphism and gene sequencing. Psychomotor retardation (55%), motor regression (20%), weakness (29%), and epilepsy (25%) were the most frequent manifestations. Sixty-four patients (85.3%) had isolated respiratory complex deficiencies: complex I was seen in 28 patients (37.3%); complex II, seven (9.3%); complex III, six (8%); complex IV, ten (13.3%); and complex V, 13 patients (17.3%). Eleven patients (14.7%) had combined complex deficiencies. Mitochondrial DNA mutations were detected in 10 patients. Eight point mutations were found in mitochondrial structural genes: m.4833A>G in ND2, m.10191T>C in ND3, m.12338T>C and m.13513G>A in ND5, m.14502T>C and m.14487T>C in ND6, m.8108A>G in COXII, and m.8993T>G in ATPase6. Three mutations were found in tRNA genes: m.4395A>G in tRNA-Gln, m.10454T>C in tRNA-Arg, and m.5587T>C in tRNA-Ala. One patient and their mother both had the m.12338T>C and m.8993T>C mutations. In conclusion, mitochondrial respiratory chain complex I deficiency and structural gene mutations frequently occur in Chinese Leigh syndrome patients.
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[Changes of caries activity and calcium, phosphorus concentrations in saliva of patients with nasopharyngeal carcinoma before and after radiotherapy].
Hua Xi Kou Qiang Yi Xue Za Zhi
PUBLISHED: 03-15-2013
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To analyze caries activity of nasopharyngeal carcinoma (NPC) patients before and after radiation therapy. The study was also designed to analyze calcium and phosphorus concentrations in saliva of NPC patients before and after radiotherapy.
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Aquaporin-1 plays a crucial role in estrogen-induced tubulogenesis of vascular endothelial cells.
J. Clin. Endocrinol. Metab.
PUBLISHED: 02-28-2013
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Aquaporin-1 (AQP1) has been proposed as a mediator of estrogen-induced angiogenesis in human breast cancer and endometrial cancer. Elucidation of the molecular mechanisms governing AQP1-mediated, estrogen-induced angiogenesis may contribute to an improved understanding of tumor development.
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Hypermethylation of the PRKCZ Gene in Type 2 Diabetes Mellitus.
J Diabetes Res
PUBLISHED: 02-21-2013
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Objectives. To study the correlation between the methylation of protein kinase C epsilon zeta (PRKCZ) gene promoters and type 2 diabetes mellitus (T2DM). Methods. The case-control method was implemented in 272 unrelated to one another cases in Shiyan Peoples Hospital. Of those, 152 were diagnosed as T2DM cases, and the other 120 cases were healthy individuals visiting the hospital for a physical examination. The subjects were first divided into two groups: the T2DM group and the normal control (NC) group. Next, methylated DNA immunoprecipitation chip (MeDIP-chip) was used for detection. Bisulfite sequencing PCR (BSP) and gene sequencing were then performed to detect and analyze the correlation between PRKCZ gene promoter methylation and T2DM. Finally, Western blotting was applied to determine the serum level of PRKCZ. The data were then analyzed with the statistics analyzing software SPSS 17.0. Results. In contrast with cases in NC, T2DM patients showed a high level of methylation, with 7 of 9?CpG sites were shown to be methylated, whereas, in the control group, only one CpG site was found to be methylated. The methylated CpG sites for the two groups showed marked differences (P < 0.01). Additionally, the level of PRKCZ was decreased in T2DM subjects, and the difference between the two groups was statistically significant (P < 0.05). Discussion. This study suggests that the PRKCZ gene is the hypermethylated gene of T2DM and the hypermethylation PRKCZ gene may be involved in the pathogenesis of T2DM.
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Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.
Brain Dev.
PUBLISHED: 02-12-2013
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Objective: To investigate respiratory chain complex II deficiency resulted from mutation in succinate dehydrogenase gene (SDH) encoding complex II subunits in China. Methods: An 11-year-old boy was admitted to our hospital. He had a history of progressive psychomotor regression and weakness since the age of 4years. His cranial magnetic resonance imaging revealed focal, bilaterally symmetrical lesions in the basal ganglia and thalamus, indicating mitochondrial encephalopathy. The activities of mitochondrial respiratory chain enzymes I-V in peripheral leukocytes were determined via spectrophotometry. Mitochondrial DNA and the succinate dehydrogenase A (SDHA) gene were analyzed by direct sequencing. Results: Complex II activity in the leukocytes had decreased to 33.07nmol/min/mg mitochondrial protein (normal control 71.8±12.9); the activities of complexes I, III, IV and V were normal. The entire sequence of the mitochondrial DNA was normal. The SDHA gene showed two heterozygous frame-shift mutations: c.G117G/del in exon 2 and c.T220T/insT in exon 3, which resulted in stop codons at residues 56 and 81, respectively. Conclusions: We have described the first Chinese case of mitochondrial respiratory chain complex II deficiency, which was diagnosed using enzyme assays and gene analysis. Two novel, compound, frame-shift mutations, c.G117G/del in exon 2 and c.T220T/insT in exon 3 of the SDHA gene, were found in our patient.
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Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A>G mutation.
Mitochondrial DNA
PUBLISHED: 01-29-2013
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To study the clinical, biochemical, and genetic heterogeneity of six Chinese patients and their mothers with the 3243 A>G mutation, six patients (ranging from 5 to 11 years) were hospitalized. All the mothers were healthy. Mitochondrial respiratory chain enzyme activities were determined by spectrophotometry. Mitochondrial gene was analyzed in all patients. Six core pedigrees were investigated. Two patients had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome and one had Leigh syndrome. The common initial symptoms were headache, vomiting, blurred vision, and epilepsy. m.3243A>G mutation was detected in all patients and their mothers. The mutation loads ranged from 43.6% to 58% and those of their mothers ranged from 14.1% to 28.6%. Varied respiratory chain deficiencies were observed in all patients and two mothers. m.3243A>G mutation can result in a wide spectrum of respiratory chain complex deficiencies. Mitochondrial DNA mutation detected in blood may be likely to transmit to offspring, and the mutation load may increase.
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Acute promyelocytic leukemia with Flt3-TKD and WT1 mutations relapsing in a testicle and followed by systemic relapse.
Acta Haematol.
PUBLISHED: 01-15-2013
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Extramedullary relapse is a rare phenomenon in patients with acute promyelocytic leukemia (APL), especially that derived from urogenital systems like the testicles. In this report, we describe an APL patient who had received standard induction/maintenance therapy resulting in durable remission for 4.5 years, when he presented with a unilateral testicular mass confirmed as myeloid sarcoma; this was followed by systemic relapse of APL. Retrospective analysis of the involved blood and bone marrow samples at the time of the initial diagnosis revealed a rare point mutation of FLT3-TKD and a novel mutation of WT1. These mutations were detected recurrently throughout the course of the disease. After reinduction therapy with arsenic trioxide and all-trans retinoic acid combined with daunorubicin, complete hematological remission was achieved for the ensuing salvage allogeneic hematopoietic stem cell transplant.
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Prevalence and associated risk factors of dyslexic children in a middle-sized city of China: a cross-sectional study.
PLoS ONE
PUBLISHED: 01-14-2013
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There are many discussions about dyslexia based on studies conducted in western countries, and some risk factors to dyslexia, such as gender and home literacy environment, have been widely accepted based on these studies. However, to our knowledge, there are few studies focusing on the risk factors of dyslexia in China. Therefore, the aim of our study was to investigate the prevalence of dyslexia and its potential risk factors.
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Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprungs disease in a Chinese population.
Mol. Neurobiol.
PUBLISHED: 01-12-2013
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Hirschsprungs disease (HSCR) is a complex developmental defect characterized by the absence of enteric ganglia in the gastrointestinal tract. Although the genetic defect of enteric nervous system (ENS) was identified to play a critical role in the progress of HSCR, the systemic genetic dissection of HSCR still needs to be clarified. In this study, we firstly performed exome sequencing of two HSCR patients from a Han Chinese family, including the affected mother and son. After the initial quality filtering (coverage? ??5X and SNP quality score???40) of the raw data, we identified 13,948 and 13,856 single nucleotide variants (SNVs), respectively. We subsequently compared the SNVs against public databases (dbSNP130, HapMap, and 1000 Genome Project) and obtained a total of 15 novel nonsynonymous SNVs in 15 genes, which were shared between these two patients. Follow-up Sanger sequencing and bioinformatics analysis highlighted variant c.853G>A (p.E285K) in NRG3, a gene involved in the development of ENS. In the validation phase, we sequenced all nine exons of NRG3 in 96 additional sporadic HSCR cases and 110 healthy individuals and identified another nonsynonymous variant c.1329G>A (p.M443I) and two synonymous variants c.828G>A (p.T276T) and c.1365T>A (p.P455P) only in the cases. Our results indicated that NRG3 may be a susceptibility gene for HSCR in a Chinese population.
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Horseradish peroxidase-catalyzed synthesis of poly(thiophene-3-boronic acid) biocomposites for mono-/bi-enzyme immobilization and amperometric biosensing.
Biosens Bioelectron
PUBLISHED: 01-02-2013
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We report here on a facile enzymatic polymerization protocol to prepare enzyme-poly(thiophene-3-boronic acid) (PTBA) polymeric biocomposites (PBCs) for high-performance mono-/bi-enzyme amperometric biosensing. Horseradish peroxidase (HRP)-catalyzed polymerization of thiophene-3-boronic acid (TBA) monomer was conducted in aqueous solution containing HRP (or plus glucose oxidase (GOx)) by either directly added or GOx-glucose generated oxidant H2O2. The mono-/bi-enzyme amperometric biosensors were prepared simply by casting the dialysis-isolated PBCs on Au-plated Au electrode (Auplate/Au), followed by coating with an outer-layer chitosan (CS) film. The boronic acid residues are capable of covalent bonding with enzyme at the glycosyl sites (boronic acid-diols interaction), which should less affect the enzymatic activity as compared with the common cases of covalent bonding at the peptide chains, and UV-vis spectrophotometric tests confirmed that the encapsulated HRP almost possesses its pristine enzymatic specific activity. The enzyme electrodes were studied by cyclic voltammetry, electrochemical impedance spectroscopy and chronoamperometry in the presence of Fe(CN)6(4-) mediator. The CS/HRP-PTBA/Auplate/Au electrode responded linearly to H2O2 concentration from 1 to 300 ?M with a sensitivity of 390 ?A mM(-1)cm(-2) and a limit of detection (LOD) of 0.1 ?M. The bienzyme CS/GOx-HRP-PTBA(H2O2)/Auplate/Au electrode responded linearly to glucose concentration from 5 ?M to 0.83 mM with a sensitivity of 75.1 ?A mM(-1)cm(-2) and a LOD of 1 ?M, and it is found here that the use of Fe(CN)6(4-) that can only efficiently mediate HRP favorably avoids the "unusual amperometric responses" observed when other mediators that can efficiently turn over both HRP and GOx are used.
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The SNP rs402710 in 5p15.33 is associated with lung cancer risk: a replication study in Chinese population and a meta-analysis.
PLoS ONE
PUBLISHED: 01-01-2013
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Lung cancer is the most commonly diagnosed cancer and leading cause of cancer mortality in the world. A single nucleotide polymorphism (SNP), rs402710, located in 5p15.33, was firstly identified to be associated with the lung cancer risk in a genome-wide association study. However, some following replication studies yielded inconsistent results.
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Effect of Chinese medical herbs-Huiru Yizeng Yihao on hyperprolactinemia and hyperplasia of mammary gland in mice.
Afr J Tradit Complement Altern Med
PUBLISHED: 01-01-2013
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The study investigated the pharmacodynamism and mechanism of Chinese medicinal formula-Huiru Yizeng Yihao (NO.1 HRYZ) on the model rats of hyperpro-lactinemia and the model rats of hyperplasia of mammary gland (HMG), and studied the internal connection between hyperprolactinemia and HMG.. The hyperprolactinemia rat models were established by injecting metoclopramide dihydrochloride in the back of rats. The model rat of HMG was prepared by injecting estradiol in the thigh muscle of the rats and progesterone consecutively, while the tails of rats were clipped with tongs. Rats were treated with either NO.1 HRYZ or positive control drugs for four weeks. The concentrations of sex hormone in rat serum were examined using ELISA kits, and the morphology of mammary gland tissue in all group rats was observed with microscope. NO.1 HRYZ significantly decreased prolactin (PRL) and increased estradiol (E2), progesterone (P), follicle stimulating hormone (FSH), luteinizing hormone (LH) concentrations of hyperprolactinemia rats. It decreased E2, PRL, FSH, gonadotropin-releasing hormone (GnRH), 5-hydroxytryptamine (5-HT) and increased P concentrations of HMG rat. It also eliminated hyperplasia of lobules and gland alveolus compared with the model group. Treatment with NO.1 HRYZ could significantly regulate the sex hormone disorder of hyperprolactinemia and HMG rat models, and could eliminate the formation of HMG. Hyperprolactinemia was closely correlated with HMG, and hyperprolactinemia promoted the formation of HMG.
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MNS16A tandem repeats minisatellite of human telomerase gene and cancer risk: a meta-analysis.
PLoS ONE
PUBLISHED: 01-01-2013
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Researchers have provided evidence that telomere dysfunction play an important role in cancer development. MNS16A is a polymorphic tandem repeats minisatellite of human telomerase (hTERT) gene that influences promoter activity of hTERT and thus implicates to relate with risk of several malignancies. However, results on association between MNS16A and cancer risk remain controversial. We therefore conduct a meta-analysis to derive a more precise estimation of association between MNS16A and cancer risk.
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Gadoxetic acid disodium-enhanced magnetic resonance imaging for the detection of hepatocellular carcinoma: a meta-analysis.
PLoS ONE
PUBLISHED: 01-01-2013
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To determine the accuracy of MR imaging with gadoxetic acid disodium (Gd-EOB-DTPA) for the detection of hepatocelluar carcinoma (HCC).
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Functional polymorphisms in FAS/FASL system increase the risk of neuroblastoma in Chinese population.
PLoS ONE
PUBLISHED: 01-01-2013
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The FAS and FASL system plays a substantial role in apoptosis and immune escape of cells. Three polymorphisms located in the promoter regions of FAS (-1377G/A and -670A/G) and FASL (-844T/C) have been shown to alter the transcriptional activity of the genes, respectively. This study was conducted to evaluate the effects of these polymorphisms on the susceptibility of neuroblastoma in the Chinese population. A total of 203 patients with neuroblastoma and 411 controls were recruited in this case-control study. Polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) was applied for genotyping. Unconditional logistic regression was used to estimate cancer risk by calculating odds ratios (ORs) and their 95% confidence intervals (95% CIs). It was observed that significantly increased risks of neuroblastoma associated with FAS -1377G/A and FASL -844T/C polymorphisms, with ORs equal to 1.55 (95% CI, 1.10-2.20) for FAS -1377 A allele and 2.90 (95% CI, 2.04-4.12) for FASL -844CC genotype carriers compared with non-carriers, respectively. However, no association was found between the polymorphisms of FAS -670A/G and risk of neuroblastoma. In addition, the cumulative effect of FAS and FASL polymorphisms on risk of neuroblastoma was observed (P for trend?=?2.502×10(-10)), with OR for the carriers of both FAS -1377A allele and FASL -844CC genotypes equaled to 3.95 (95% CI, 2.40-6.51). This work reveals that polymorphisms of FAS -1377G/A and FASL -844T/C but not FAS -670A/G are associated with risk of neuroblastoma in Chinese. These findings support the hypothesis that genetic polymorphism in FAS/FASL death system may influence individual susceptibility to neuroblastoma.
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Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.
PLoS ONE
PUBLISHED: 01-01-2013
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NKX2-5 is a transcriptional factor, which plays an important role in heart formation and development. Two genetic variants in the coding region of NKX2-5, 63A>G (rs2277923) and 606G>C (rs3729753), have been investigated in the risk of congenital heart disease (CHD), although with inconsistent results. Thus, a meta-analysis was performed to clarify the associations between the two variants and CHD risk in the Chinese population.
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The genetic variant on chromosome 10p14 is associated with risk of colorectal cancer: results from a case-control study and a meta-analysis.
PLoS ONE
PUBLISHED: 01-01-2013
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A common single nucleotide polymorphism (SNP), rs10795668, located at 10p14, was first identified to be significantly associated with risk of colorectal cancer (CRC) by a genome-wide association study (GWAS) in 2008; however, another GWAS and following replication studies yielded conflicting results.
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The leptin gene family and colorectal cancer: interaction with smoking behavior and family history of cancer.
PLoS ONE
PUBLISHED: 01-01-2013
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Pathologic condition associated with metabolic syndrome traits seems to increase the risk of colorectal cancer. One mechanism underlying this relationship may involve the growth-promoting effects of the circulation hormones associated with obesity and insulin resistance, such as leptin.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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