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Find video protocols related to scientific articles indexed in Pubmed.
[Balloon angioplasty for native coarctation in children: one year follow-up results].
Zhonghua Er Ke Za Zhi
PUBLISHED: 09-17-2014
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Balloon angioplasty is an alternative to surgical repair for coarctation of the aorta in children. However, its role in the treatment of neonates and infants younger than 3 months old remains controversial. The purpose of this study was to evaluate the efficacy and safety of balloon angioplasty for native coarctation by comparing children in different age groups.
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[Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
Zhonghua Er Ke Za Zhi
PUBLISHED: 09-06-2014
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To screen for genomic copy number variations (CNVs) in two unrelated neonates with multiple congenital abnormalities using Affymetrix SNP chip and try to find the critical region associated with congenital heart disease.
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[Sequence analyses of HIRA gene 3'UTR region and related microRNA].
Zhonghua Yi Xue Za Zhi
PUBLISHED: 06-14-2014
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To explore the HIRA gene sequences of 3'UTR region and elucidate the role of 3'UTR region of HIRA gene in the pathogenesis of tetralogy of Fallot (TOF).
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Promoter methylation and expression of the VANGL2 gene in the myocardium of pediatric patients with Tetralogy of Fallot.
Birth Defects Res. Part A Clin. Mol. Teratol.
PUBLISHED: 05-07-2014
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Background: Tetralogy of Fallot (ToF) is the most common form of cyanotic congenital heart disease and is a major cause of significant morbidity and mortality. VANGL2 is a critical gene in the planar cell polarity pathway that plays an important role in the development of the heart. This study investigates the methylation status of the promoter region of VANGL2 and the expression pattern of VANGL2 in cardiac tissue. Methods: The promoter region of VANGL2 was sequenced in 200 ToF patients and 400 control subjects. Methylation levels were measured in four regions of the VANGL2 promoter (B1-1: -282 bp ? -117 bp, B1-2: -117 bp ? 41 bp, B2: 8 bp ? 157 bp, B3: 132 bp ? 401 bp) by bisulfite sequencing PCR in the right ventricular outflow tract of the myocardium. Quantitative real-time PCR and immunohistochemistry were used to detect the mRNA and protein expression levels, respectively. Results: No mutations were found in the promoter region, but two SNPs (rs11582932 T>G, rs11265385 T>G) were found in ToF patients and controls with similar frequencies (p?>?0.05). The overall methylation status of the VANGL2 promoter was significantly higher in ToF patients than in controls (p?=?0.0234). Specifically, the methylation levels of regions B1-1 and B3 were significantly higher in ToF patients (p?=?0.0042, p?=?0.0418). Both the VANGL2 mRNA and protein levels were significantly lower in ToF patients than in controls (p?
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No association of pri-miR-143 rs41291957 polymorphism with the risk of congenital heart disease in a Chinese population.
Pediatr Cardiol
PUBLISHED: 03-25-2014
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MiR-143 plays an important role in the heart development of zebra fish. The rs41291957 variant located in the pri-miR-143 sequence is associated with colorectal carcinogenesis. Therefore, the authors hypothesized that rs41291957 in pri-miR-143 might be involved in the risk of sporadic congenital heart disease (CHD). The authors conducted a case-control study of CHD in a Chinese population to test their hypothesis by genotyping pri-miR-143 rs41291957 in 1,109 CHD cases and 915 non-CHD control subjects. Logistic regression analyses showed no significant association of genotype or allele frequencies of pri-miR-143 rs41291957 A/G polymorphism with the CHD cases in overall or various subtypes compared with the control group. To the authors' knowledge, this is the first study to investigate the relationship between miR-143 and CHD cases. The results demonstrated that rs41291957 in pri-miR-143 has no major role in genetic susceptibility to sporadic CHD, at least in the current study population.
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De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models.
Biochim. Biophys. Acta
PUBLISHED: 02-26-2014
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Esophageal atresia is a common and life-threatening birth defect with a poorly understood etiology. In this study, we analyzed the sequence variants of coding regions for a set of esophageal atresia-related genes including MYCN, SOX2, CHD7, GLI3, FGFR2 and PTEN for mutations using PCR-based target enrichment and next-generation sequencing in 27 patients with esophageal atresia. Genomic copy number variation analysis was performed using Affymetrix SNP 6.0. We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332T>C, p.M111T) in a patient with esophageal atresia and hemivertebrae. The N-terminal region (amino acids 1-397) of GLI3 contains the repressor domain, which interacts with SKI family proteins. Using the co-immunoprecipitation assay, we found that interaction of GLI3 with the SKI family protein SKIL was significantly compromised by the p.M111T mutation of GLI3. Thus far, all the identified mutations mapped within the repressor domain of GLI3 were nonsense and frame-shift mutations. In this study, a missense mutation was initially detected in this region. Our finding is the first to link this GLI3 gene mutation with esophageal atresia in humans, which was previously suggested in an animal model.
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Elevated methylation of the RXRA promoter region may be responsible for its downregulated expression in the myocardium of patients with TOF.
Pediatr. Res.
PUBLISHED: 02-10-2014
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As an important component of retinoid acid signaling pathway, the retinoid X receptor ? (RXRA) is considered to play an important role in the pathogenesis of tetralogy of Fallot (TOF).
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Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot.
J Transl Med
PUBLISHED: 01-28-2014
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Although a lower methylation level of whole genome has been demonstrated in Tetralogy of Fallot (TOF) patients, little is known regarding changes in specific gene DNA methylation profiles and the possible associations with TOF. In current study, the promoter methylation statuses of congenital heart defect (CHD) candidate genes were measured in order to further understand epigenetic mechanisms that may play a role in the development of TOF.
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Paternal ethanol exposure and behavioral abnormities in offspring: associated alterations in imprinted gene methylation.
Neuropharmacology
PUBLISHED: 01-15-2014
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Research confirms that maternal ethanol (EtOH) exposure can induce physical and mental disorders in offspring, yet the effect of paternal ethanol exposure on offspring is unclear. Methylation alterations in imprinted genes may be related to the well-documented teratogenic effects of ethanol. Here, we report that ethanol (0, 1.1, 3.3 g/kg) was administered intragastrically to male mice and a behavioral study was performed on their F1 generation. Data show that F1 mice with fathers exposed to the highest dose of ethanol had delayed cognitive performance and increased anxiety and depression. A specific circling behavior was observed in the offspring of the paternally ethanol-exposed group. The degree of methylation and mRNA expression of H19, Peg3, Ndn and Snrpn were assessed in paternal sperm and in the cerebral cortices of each offspring. It did affect methylation in paternal sperm (H19 and Peg3) and in the offspring's cerebral cortices (CpG7 and CpG11 in Peg3 and Snrpn), but the level of mRNA expression has not changed. In the circling mice, the highest ethanol exposure increase in methylation (CpG 1, 2, 7 and 11) and decreases in mRNA of Peg3.Thus, chronic paternal ethanol exposure can affect the methylation of imprinted genes in sire sperm that may be passed on to offspring, giving rise to mental deficits.
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DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot.
BMC Med Genomics
PUBLISHED: 07-18-2013
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NKX2-5, GATA4 and HAND1 are essential for heart development, however, little is known regarding their epigenetic regulation in the pathogenesis of tetralogy of fallot (TOF).
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Blood pressure percentiles by age and height for non-overweight Chinese children and adolescents: analysis of the China Health and Nutrition Surveys 1991-2009.
BMC Pediatr
PUBLISHED: 06-19-2013
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Hypertension is an important health problem in China and raised blood pressure in children may lead to future hypertension. Accordingly we aimed to provide a reference blood pressure table for age, gender and height in Chinese children.
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Knockdown of p66(Shc) by siRNA injection rescues arsenite-induced developmental retardation in mouse preimplantation embryos.
Reprod. Toxicol.
PUBLISHED: 05-07-2013
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Two-cell arrest plays a principal role in the elevated levels of embryo loss during the first week of development in mouse. Previously, we have shown that arsenic can apparently induce 2-cell arrest in mouse preimplantation embryo and the expression of oxidative stress adaptor protein p66(Shc) is up-regulated in this process. In the present study, we demonstrated that microinjection of p66(Shc) siRNA into the pronucleus of zygotes resulted in a markedly decrease in both mRNA and protein levels of p66(Shc). The arsenite-induced 2-cell arrests, along with a reduction in the levels of reactive oxygen species (ROS), were significantly inhibited and the number of embryos developing to morula stage concurrently increased upon p66(shc) siRNA microinjection. These findings indicate that knockdown of p66(shc) improves the developmental competence of arsenite-exposed embryos in vitro by increasing the resistance to oxidative stress. In addition, we highlight the utility of single-embryo analysis in preimplantation embryos.
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Association between mRNA levels of DNMT1, DNMT3A, DNMT3B, MBD2 and LINE-1 methylation status in infants with tetralogy of Fallot.
Int. J. Mol. Med.
PUBLISHED: 03-18-2013
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DNA methylation is catalyzed and maintained by DNA methyltransferases (DNMTs: DNMT1, DNMT3A and DNMT3B) and methyl-CpG-binding domain protein 2 (MBD2). However, little is known about the biological and clinical significance of the expression changes of DNMTs and MBD2 and their association with the methylation levels of long interspersed nuclear element-1 (LINE-1) in patients with tetralogy of Fallot (TOF). In this study, quantitative RT-PCR (qRT-PCR) was applied to analyze the mRNA levels of DNMTs and MBD2. The methylation status of LINE-1 was measured using the sequenom MassARRAY platform. The mRNA levels of the DNMTs and MBD2 showed a statistically significant decrease in the patients with TOF (P<0.001). The results also showed that patients with TOF had significantly lower global DNA methylation levels with a median of 61.50% [interquartile range (IQR), 59.78-63.77] compared with 63.54% (IQR, 62.49?64.88) among the controls (P=0.0099). In the controls, only DNMT1 showed a significant positive correlation with the DNMT3A mRNA levels (r=0.718, P=0.002). Of note, the DNMT1, DNMT3A, DNMT3B and MBD2 mRNA levels positively correlated with each other; this was statistically significant (P<0.05). A significant positive correlation with the global DNA methylation status was observed only for MBD2 (r=-0.579, P=0.005) in patients with TOF. In conclusion, lower LINE-1 methylation levels significantly correlate with aberrant MBD2 mRNA levels. The lower expression of DNMT1 and DNMT3B may play an important role in the pathogenesis of TOF.
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The genotype and expression of the TGF?2 gene in children with congenital conotruncal defects.
Pediatr Cardiol
PUBLISHED: 03-07-2013
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Animal studies have shown that knockout of the transforming growth factor beta-2 (TGF?2) gene results in diverse cardiovascular malformations and that its unregulated expression is involved in the pathogenesis of heart defects. However, little information is available on the genetic and expression alternations of the TGF?2 gene in children with congenital heart disease. This study investigated the genotype and expression of the TGF?2 gene in children with congenital conotruncal defects (CTDs). The whole coding region of the TGF?2 gene was sequenced in 400 children with CTD. The mRNA and protein expression of the TGF?2 gene was further analyzed in the myocardial tissues of 37 children with CTD and 5 age-matched healthy children using real-time polymerase chain reaction and immunohistochemistry. No pathogenic mutations in the coding region of the TGF?2 gene were shown by DNA sequencing except for a silent mutation (c.597T > C) in exon 4 of one patient. The TGF?2 expression at either the mRNA or the protein level in the myocardial tissues did not differ significantly between the children with CTD and the children without heart defects. The results indicate that germline mutation of the TGF?2 gene is not a common cause of CTD in humans and that the TGF?2 expression level may be less critical in humans than in animals for the pathogenesis of CTD.
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No association of functional variant in pri-miR-218 and risk of congenital heart disease in a Chinese population.
Gene
PUBLISHED: 02-26-2013
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MiR-218 plays an important role in heart development in zebrafish. pri-miR-218 rs11134527 variant is associated with cervical cancer carcinogenesis. Therefore, we hypothesized that single nucleotide polymorphism (SNPs) in pri-miR-218 might influence susceptibility to sporadic congenital heart disease (CHD).
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Islet-1 may function as an assistant factor for histone acetylation and regulation of cardiac development-related transcription factor Mef2c expression.
PLoS ONE
PUBLISHED: 01-01-2013
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Islet-1 is an important transcription factor for cardiac development through mediating extensive interactions between DNA and proteins. The present study was to investigate the role of Islet-1 in regulating the expression of cardiac development-related transcription factors and mechanism.
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Association of two variants in SMAD7 with the risk of congenital heart disease in the Han Chinese population.
PLoS ONE
PUBLISHED: 01-01-2013
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SMAD7 is a general antagonist of TGF-? signaling and has been found to be involved in cardiogenesis in mouse models, but its role in human congenital heart disease (CHD) has yet to be investigated. To examine if SMAD7 is associated with CHD, we conducted a case-control study in the Han Chinese population. Exon1 and exon4 of SMAD7, which encode the functional MH1 and MH2 domains, were directly sequenced in 1,201 sporadic CHD patients and 1,116 control individuals. A total of 18 sequence variations were identified. Two common variants rs3809922 and rs3809923 are located at exon4 of SMAD7, and were found in strong linkage disequilibrium with each other (r²?=?0.93). We analyzed the association of these two loci with CHD in 3 independent subgroup case-control studies, and found that in some subgroups, rs3809922 and rs3809923 were significantly associated with CHD through genetic model analysis. In the combined data set, TT genotype in rs3809922 significantly increased the risk of CHD compared with CC and CT, while GG genotype in rs3809923 significantly increased the risk of CHD compared with CC and CG, particularly in the recessive model. In addition, haplotype analyses showed that haplotype TG significantly increased the risk of CHD (P?=?6.9×10??); this finding supports the results from the analyses based on single locus. According to data from the 1000 Genomes Project, the frequencies of the two risk alleles varied greatly between populations worldwide, which indicate the identified associations might have a population difference. To our knowledge, this is the first report that genetic variants in SMAD7 influence susceptibility to CHD risk.
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Molecular and clinical characteristics of clonal complex 59 methicillin-resistant Staphylococcus aureus infections in Mainland China.
PLoS ONE
PUBLISHED: 01-01-2013
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Detailed molecular analyses of Clonal Complex 59 (CC59) methicillin-resistant Staphylococcus aureus (MRSA) isolates from children in seven major cities across Mainland China were examined. A total of 110 CC59 isolates from invasive and non-invasive diseases were analyzed by multilocus sequence typing (MLST), Staphylococcus cassette chromosome mec (SCCmec) typing, staphylococcal protein A (spa) typing and pulsed-field gel electrophoresis (PFGE). Antibiotics susceptibilities, carriage of plasmids and 42 virulence genes and the expression of virulence factors were examined. ST59 (101/110, 91.8%) was the predominant sequence type (ST), while single locus variants (SLVs) belonging to ST338 (8/110, 7.3%) and ST375 (1/110, 0.9%) were obtained. Three SCCmec types were found, namely type III (2.7%), type IV (74.5%) and type V (22.7%). Seven spa types including t437, which accounted for 87.3%, were determined. Thirteen PFGE types were obtained. PFGE types A and B were the major types totally accounting for 81.8%. The dominant clone was ST59-t437-IVa (65.5%), followed by ST59-t437-V (14.5%). The positive rate of luks-PV and lukF-PV PVL encoding (pvl) gene was 55.5%. Plasmids were detected in 83.6% (92/110) of the strains. The plasmid size ranging from 23.4 kb to 50 kb was most prevalent which accounted for 83.7% (77/92). A significantly lower expression of hla was found in ST59-t437-IVa compared with ST59-t437-V. Among the 110 cases, 61.8% of the patients were less than 1 year old. A total of 90 cases (81.8%) were community-associated (CA) infections whereas 20 cases (18.2%) were hospital-associated (HA) infections. Out of the 110 patients, 36.4% (40/110) were diagnosed with invasive infectious diseases in which ST59-t437-IVa accounted for 67.5% (27/40). In brief, ST59-t437-IVa was proved as the dominant clone in CC59 MRSA strains. The carriage rate of pvl gene was high. CC59 MRSA could result in CA and HA infections. The majortiy of MRSA infection children were in young age.
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Identification of functional mutations in GATA4 in patients with congenital heart disease.
PLoS ONE
PUBLISHED: 01-01-2013
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Congenital heart disease (CHD) is one of the most prevalent developmental anomalies and the leading cause of noninfectious morbidity and mortality in newborns. Despite its prevalence and clinical significance, the etiology of CHD remains largely unknown. GATA4 is a highly conserved transcription factor that regulates a variety of physiological processes and has been extensively studied, particularly on its role in heart development. With the combination of TBX5 and MEF2C, GATA4 can reprogram postnatal fibroblasts into functional cardiomyocytes directly. In the past decade, a variety of GATA4 mutations were identified and these findings originally came from familial CHD pedigree studies. Given that familial and sporadic CHD cases allegedly share a basic genetic basis, we explore the GATA4 mutations in different types of CHD. In this study, via direct sequencing of the GATA4 coding region and exon-intron boundaries in 384 sporadic Chinese CHD patients, we identified 12 heterozygous non-synonymous mutations, among which 8 mutations were only found in CHD patients when compared with 957 controls. Six of these non-synonymous mutations have not been previously reported. Subsequent functional analyses revealed that the transcriptional activity, subcellular localization and DNA binding affinity of some mutant GATA4 proteins were significantly altered. Our results expand the spectrum of GATA4 mutations linked to cardiac defects. Together with the newly reported mutations, approximately 110 non-synonymous mutations have currently been identified in GATA4. Our future analysis will explore why the evolutionarily conserved GATA4 appears to be hypermutable.
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Virion protein 16 induces demethylation of DNA integrated within chromatin in a novel mammalian cell model.
Acta Biochim. Biophys. Sin. (Shanghai)
PUBLISHED: 11-25-2011
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DNA methylation and demethylation play important roles in mediating epigenetic regulation. So far, the mechanism of DNA demethylation remains elusive and controversial. Here, we constructed a plasmid, named with pCBS-luc, that contained an artificial CpG island, eight Gal4 DNA-binding domain binding site, an SV40 promoter, and a firefly luciferase reporter gene. The linearized pCBS-luc plasmid was methylated in vitro by DNA methyltransferase, and transfected into the HEK293 cells. The stable HEK293 transfectants with methylated pCBS-luc (me-pCBS-luc) were selected and obtained. The methylation status of the selected stable cell lines were confirmed by bisulfite sequencing polymerase chain reaction amplification. The methylation status could be maintained even after 15 passages. The virion protein 16 (VP16) was reported to enhance DNA demethylation around its binding sites of the promoter region in Xenopus fertilized eggs. Using our me-pCBS-luc model, we found that VP16 also had the ability to activate the expression of methylated luciferase reporter gene and induce DNA demethylation in chromatin DNA in mammalian cells. Altogether, we constructed a cell model stably integrated with the me-pCBS-luc reporter plasmid, and in this model we found that VP16 could lead to DNA demethylation. We believe that this cell model will have many potential applications in the future research on DNA demethylation and dynamic process of chromatin modification.
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Molecular analysis of Streptococcus pyogenes strains isolated from Chinese children with pharyngitis.
Diagn. Microbiol. Infect. Dis.
PUBLISHED: 01-22-2011
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Streptococcus pyogenes is an important gram-positive bacterial pathogen that causes various human diseases, of which streptococcal pharyngitis is the most common. In this work, a total of 185 S. pyogenes isolated from Chinese children with pharyngitis was analyzed by superantigen (SAg) genes, emm genotyping, and pulsed-field gel electrophoresis (PFGE). Fifty-eight (31.4%) isolates were also typed by multilocus sequence typing (MLST). The results indicate that most of the emm1 isolates possessed speA (88.5%) and speJ (83.6%), and few isolates possessed speI gene (13.1%). In contrast, none of the emm12-type isolates possessed speJ; few isolates possessed speA (5.2%); and most of the isolates possessed speI (91.7%). PFGE analysis revealed 25 different clusters, and MLST was performed for 2 predominant emm-type isolates; emm12 isolates belonged to ST36 while emm1 isolates belonged to ST28. As far as this collection is concerned, emm1 and emm12 are the prevalent genotypes among S. pyogenes strains associated with childrens pharyngitis in China. Most of the pharyngitis strains can be covered by a 26-valent vaccine. A strong correspondence is found only in the direction of emm type for both SAg profiles and PFGE types but not in the reverse direction.
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Two novel mutations of the IRX4 gene in patients with congenital heart disease.
Hum. Genet.
PUBLISHED: 01-20-2011
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IRX4 was the first identified cardiac transcription factor that is restricted to the ventricles at all stages of heart development. Irx4-deficient mice show ventricular dysfunction and develop cardiomyopathy. To study the potential impact of sequence variations in IRX4 on congenital heart disease (CHD) in humans, we examined the coding region of IRX4 in a cohort of 698 Chinese people with congenital heart disease and 250 healthy individuals as the controls. We found two potential disease-causing mutations, p. Asn85Tyr and p. Glu92Gly. A mammalian two-hybrid assay showed that both of the mutations significantly affected the interaction between IRX4 and RXRA. It demonstrated that IRX4 had a potential causative impact on the development of congenital heart disease, particularly ventricular septal defect.
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Inhibition of p300-HAT results in a reduced histone acetylation and down-regulation of gene expression in cardiac myocytes.
Life Sci.
PUBLISHED: 05-11-2010
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Histone acetylation plays an important role in cardiogenesis, but the underlying mechanism is unclear. In this study, we investigated the relationship between histone hypo-acetylation and the expression of cardiac-specific genes to explore the underlying mechanisms.
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Hairy-related transcription factor 2 is not potentially related to congenital heart disease in Chinese patients.
Int. J. Cardiol.
PUBLISHED: 02-24-2010
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Congenital heart disease (CHD) is the malformation of the heart during embryonic development, contributing to the inadequate function of the heart. A recently suggested gene hairy-related transcription factor 2 (HEY2), is an important determinant of mammalian heart development and functions thereby. We had preformed a direct sequencing within 768 Chinese CHD patients in the HEY2 gene. However, we did not reveal any diagnostic alterations in the coding regions by direct sequencing in HEY2, nevertheless this work expands our knowledge of the causes of CHD in the other way.
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Molecular characteristics of community-acquired, methicillin-resistant Staphylococcus aureus isolated from Chinese children.
FEMS Immunol. Med. Microbiol.
PUBLISHED: 01-28-2010
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The aim of this study was to investigate the molecular characteristics of community-acquired, methicillin-resistant Staphylococcus aureus (CA-MRSA) isolates from Chinese children. Ninety-nine isolates were collected from eight hospitals, and analyzed by multilocus sequence typing, staphylococcal chromosomal cassette mec (SCCmec) type, and spa typing. The Panton-Valentine leukocidin (PVL) gene was also detected. Overall, 14 sequence types (STs) were obtained, and ST59 (58.6%) was found to be the most prevalent, followed by ST1 (8%) and ST338 (8%). We also first registered the new ST1409. SCCmec type IV was the most predominant type at 67.7%, followed by SCCmec type V at 32.3%. SCCmec subtypes IVa, IVc, and IVg were found among the SCCmec type IV strains. Twenty-one spa types were also identified. Four new spa types were found by synchronization with the Ridom SpaServer and referring to the website (http://www.SeqNet.org). ST59-MRSA-IVa with t437 accounted for 40.4% of occurrences, making it the most prevalent clone. The prevalence of PVL genes was 58.6%, and multidrug resistance was observed in 95% of all isolates. This result indicates that CA-MRSA isolates in Chinese children are largely associated with the ST59-MRSA-IV clone, and that the predominant clones of CA-MRSA are spread all over the country.
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Anomalous origin of a coronary artery from the right branchiocephalic trunk associated with complex congenital heart disease.
Pediatr Cardiol
PUBLISHED: 06-16-2009
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This report describes the extremely rare case of a 42-day-old boy with anomalous origin of a single coronary artery from the right branchiocephalic trunk associated with hypoplastic left ventricle, mitral atresia, truncus arteriosus, total anomalous pulmonary venous drainage, and patent foramen ovale.
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High macrolide resistance in Streptococcus pyogenes strains isolated from children with pharyngitis in China.
Pediatr. Pulmonol.
PUBLISHED: 04-11-2009
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To assess the macrolide resistance, phenotype, and genotypic characterization of Streptococcus pyogenes isolated from Chinese children with pharyngitis.
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Inhibition of histone acetylation by curcumin reduces alcohol-induced expression of heart development-related transcription factors in cardiac progenitor cells.
Biochem. Biophys. Res. Commun.
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Alcohol exposure during pregnancy may cause congenital heart disease (CHD). In our previous studies, we found that alcohol selectively increased acetylation of histone H3 at lysine 9 (H3K9) and enhanced the expression of heart development-related genes in cardiac progenitor cells. The objective of this study is to investigate the protective effects of histone acetyltransferases (HATs) inhibitor, curcumin, on histone hyperacetylation and the over-expression of heart development genes induced by alcohol. Western blot analysis was employed to detect the acetylation levels of histone H3K9 and real-time PCR was applied to measure the expressions of heart development-related transcription factors, GATA4, Mef2c and Tbx5 (GMT). Our results showed that alcohol increased the acetylation of H3K9 by 2.76-fold (P<0.05) and significantly enhanced the expression of GATA4 and Mef2c (P<0.05). When cells were treated with alcohol plus 25 ?M curcumin, the hyperacetylation of H3K9 and over-expression of GATA4 and Mef2c by alcohol was reversed. These data indicate that curcumin can correct the over-expression of cardiac genes by reversing the alcohol induced hyperacetylation of histone H3 at lysine 9 in cardiac progenitor cells, suggesting that curcumin is protective against alcohol-induced cardiac gene over-expression that may result in heart malformations.
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LINE-1 methylation status and its association with tetralogy of fallot in infants.
BMC Med Genomics
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Methylation levels of long interspersed nucleotide elements (LINE-1) are representative of genome-wide methylation status and play an important role in maintaining genomic stability and gene expression. To derive insight into the association between genome-wide methylation status and tetralogy of fallot (TOF), we compared the methylation status of LINE-1 element between TOF patients and controls. The methylation of the NKX 2-5, HAND 1, and TBX 20 promoter regions was also evaluated.
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Multidrug-resistant clones of community-associated meticillin-resistant Staphylococcus aureus isolated from Chinese children and the resistance genes to clindamycin and mupirocin.
J. Med. Microbiol.
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This study aimed to correlate the multidrug resistance (MDR) and sequence type (ST) clones of community-associated (CA) meticillin-resistant Staphylococcus aureus (MRSA) to identify the genes responsible for clindamycin and mupirocin resistance in S. aureus isolates from paediatric hospitals in mainland China. A total of 435 S. aureus isolates were collected. Compared with CA meticillin-susceptible S. aureus (MSSA), the resistance rates of CA-MRSA to ciprofloxacin, chloramphenicol, gentamicin and tetracycline were higher (19.0 vs 2.6?%, P<0.001; 14.7 vs 3.1?%, P<0.001; 14.7 vs 3.1?%, P<0.01; and 46.0 vs 13.3?%, P<0.001, respectively). Compared with hospital-associated (HA)-MRSA, the resistance rates of CA-MRSA to ciprofloxacin, gentamicin, rifampicin, tetracycline and trimethoprim-sulfamethoxazole were lower (19 vs 94.8?%, P<0.001; 14.7 vs 84.4?%, P<0.001; 5.5 vs 88.3?%, P<0.001; 46 vs 94.8?%, P<0.001; and 1.8 vs 9.1?%, P<0.01, respectively). The resistance rates of CA-MRSA, HA-MRSA and CA-MSSA to clindamycin (92.0, 77.9 and 64.1?%, respectively) and erythromycin (85.9, 77.9 and 63.1?%, respectively) were high. The MDR rates (resistance to three or more non-?-lactams) were 49.6, 100 and 14?% in the CA-MRSA, HA-MRSA and CA-MSSA isolates, respectively. Five of seven ST clones in the CA-MRSA isolates, namely ST59, ST338, ST45, ST910 and ST965, had MDR rates of >50?% (67.9, 87.5, 100, 50 and 83.3?%, respectively). The constitutive phenotype of macrolide-lincosamide-streptogramin B (MLS(B)) resistance (69?%) and the ermB gene (38.1?%) predominated among the MLS(B)-resistant CA S. aureus strains. The resistance rate to mupirocin was 2.3?% and plasmids carrying the mupA gene varied in size between 23 and 54.2 kb in six strains with high-level resistance as determined by Southern blot analysis. The present study showed that resistance to non-?-lactams, especially to clindamycin, is high in CA-MRSA isolates from Chinese children and that the profile of resistance is related to clonal type. This study revealed distinctive patterns of MLS(B)-resistant genes among CA S. aureus isolates.
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Epidemiological and molecular characteristics of clinical isolates of Streptococcus pyogenes collected between 2005 and 2008 from Chinese children.
J. Med. Microbiol.
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The aim of this study was to explore the epidemiological and molecular characteristics of Streptococcus pyogenes in children from different cities in mainland China who were diagnosed with scarlet fever, impetigo and pharyngitis, as well as to detect asymptomatic carriers, between 2005 and 2008, and to compare the results with isolates from rural Chinese children with acute glomerulonephritis in 2005 and in the 1990s. Susceptibility tests to determine MICs and analysis of the presence of erythromycin-resistant genes (mefA, ermB and ermA) and emm gene typing were performed on 466 S. pyogenes isolates from Beijing, Shanghai, Chongqing and Shenzhen. Superantigen genes (speA and speC) were examined by performing PCR on isolates with the most prevalent emm genotype. All isolates were sensitive to penicillin, cefradine and ofloxacin. The highest rate of resistance was against clarithromycin (98.1?%), followed by erythromycin (97.6?%), azithromycin and clindamycin (both 97.2?%), and tetracycline (94.0?%). Among the 466 isolates, 421 (90.3?%) harboured the ermB gene, 145 (31.1?%) were speA-positive and 273 (58.6?%) were speC-positive. The speA gene was common in emm1.0 (88.8?%) and emm6.5 (83.3?%) genotypes. The speC gene was frequently observed in emm4.0 (90.0?%), emm12.0 (69.6?%), emm18.0 (66.7?%), emm22.0 (75.9?%) and emm80.0 (80.0?%) genotypes. The most prevalent emm genotypes in mainland China in recent years were emm1.0 and emm12.0. All isolates remained sensitive to ?-lactams and quinolone.
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Novel mutations of NODAL gene in Chinese patients with congenital heart disease.
Genet Test Mol Biomarkers
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Congenital heart disease (CHD) is one of most common birth defects threatening newborns health. Over the past few decades, a variety of CHD-causing gene mutations have been identified, but the pathogenic mechanism of congenital heart disease is yet not very clear. The aim of this study was to identify potential pathologic mutations in the NODAL gene and to gain insight into the etiology of CHD. By using amplification with polymerase chain reaction and sequence analysis of NODAL in 800 patients with nonsyndromic CHD and 250 healthy controls, we identified 3 nonsynonymous variants. One of them was first identified in the present study. These variants were not observed in 250 controls. To our knowledge, this is the first study to suggest that NODAL may be involved in the etiology of nonsyndromic CHD in a Chinese population.
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A Common variant near the melanocortin 4 receptor is associated with low-density lipoprotein cholesterol and total cholesterol in the Chinese Han population.
Mol. Biol. Rep.
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A number of recent genome-wide association studies in European populations have reported that variant rs17782313 is significantly associated with obesity and body mass index (BMI). The purpose of the present study was to evaluate the association of rs17782313 with obesity and BMI in the Chinese Han population. We also sought to extend previous studies by determining whether this SNP is associated with plasma lipid levels in the Chinese Han population. Rs17782313 was genotyped in two independent Chinese Han cohorts (Cohort1: n = 2533; Cohort2: n = 2105). In our study, rs17782313 did not show significant association with either obesity or BMI in the Chinese Han population, but showed evidence for association with LDL-C (P ~ 0.003) and TC (P ~ 0.001). Our findings indicate that the variant rs17782313 near MC4R is likely to have an impact on plasma lipid levels of LDL-C and TC in the Chinese Han population.
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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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We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

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In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.