WorldWideScience

Sample records for tn402-like transposition genes

  1. Class 1 Integrons Potentially Predating the Association with Tn402-Like Transposition Genes Are Present in a Sediment Microbial Community

    DEFF Research Database (Denmark)

    Stokes, Harold W.; Nesbø, Camilla L.; Holley, Marita

    2006-01-01

    and are confined to specific bacterial lineages. However, this is not the case for class 1 integrons, which were the first to be identified and are one of the single biggest contributors to multidrug-resistant nosocomial infections, carrying resistance to many antibiotics in diverse pathogens on a global scale...

  2. Erythromycin Resistance-Conferring Plasmid pRSB105, Isolated from a Sewage Treatment Plant, Harbors a New Macrolide Resistance Determinant, an Integron-Containing Tn402-Like Element, and a Large Region of Unknown Function▿

    Science.gov (United States)

    Schlüter, A.; Szczepanowski, R.; Kurz, N.; Schneiker, S.; Krahn, I.; Pühler, A.

    2007-01-01

    The erythromycin resistance plasmid pRSB105 was previously isolated from an activated sludge bacterial community of a municipal wastewater treatment plant. Compilation of the complete pRSB105 nucleotide sequence revealed that the plasmid is 57,137 bp in size and has a mean G+C content of 56.66 mol%. The pRSB105 backbone is composed of two different replication and/or partitioning modules and a functional mobilization region encoding the mobilization genes mobCDE and mobBA. The first replicon (Rep1) is nearly identical to the corresponding replication module of the multiresistance plasmid pRSB101 isolated from an unknown activated sludge bacterium. Accordingly, pRSB101 and pRSB105 are sister plasmids belonging to a new plasmid family. The second replicon (Rep2) of pRSB105 was classified as a member of the IncP-6 group. While Rep1 confers replication ability only in γ-proteobacteria, Rep2 extents the host range of the plasmid since it is also functional in the β-proteobacterium Ralstonia eutropha. Plasmid pRSB105 harbors the macrolide resistance genes mel and mph, encoding, respectively, a predicted ABC-type efflux permease and a macrolide-2′-phosphotransferase. Erythromycin resistance is mainly attributed to mel, whereas mph contributes to erythromycin resistance to a lesser extent. The second resistance region, represented by an integron-containing Tn402-like element, includes a β-lactam (oxa10) and a trimethoprim (dfrB2) resistance gene cassette. In addition to antibiotic resistance modules, pRSB105 encodes a functional restriction/modification system and two nonresistance regions of unknown function. The presence of different mobile genetic elements that flank resistance and nonresistance modules on pRSB105 indicates that these elements were involved in acquisition of accessory plasmid modules. Comparative genomics of pRSB105 and related plasmids elucidated that pRSB105 evolved by integration of distinct modules from different plasmid sources, including

  3. Large-Scale Transposition Mutagenesis of Streptomyces coelicolor Identifies Hundreds of Genes Influencing Antibiotic Biosynthesis

    Science.gov (United States)

    Xu, Zhong; Wang, Yemin; Chater, Keith F.; Ou, Hong-Yu; Xu, H. Howard; Deng, Zixin

    2017-01-01

    ABSTRACT Gram-positive Streptomyces bacteria produce thousands of bioactive secondary metabolites, including antibiotics. To systematically investigate genes affecting secondary metabolism, we developed a hyperactive transposase-based Tn5 transposition system and employed it to mutagenize the model species Streptomyces coelicolor, leading to the identification of 51,443 transposition insertions. These insertions were distributed randomly along the chromosome except for some preferred regions associated with relatively low GC content in the chromosomal core. The base composition of the insertion site and its flanking sequences compiled from the 51,443 insertions implied a 19-bp expanded target site surrounding the insertion site, with a slight nucleic acid base preference in some positions, suggesting a relative randomness of Tn5 transposition targeting in the high-GC Streptomyces genome. From the mutagenesis library, 724 mutants involving 365 genes had altered levels of production of the tripyrrole antibiotic undecylprodigiosin (RED), including 17 genes in the RED biosynthetic gene cluster. Genetic complementation revealed that most of the insertions (more than two-thirds) were responsible for the changed antibiotic production. Genes associated with branched-chain amino acid biosynthesis, DNA metabolism, and protein modification affected RED production, and genes involved in signaling, stress, and transcriptional regulation were overrepresented. Some insertions caused dramatic changes in RED production, identifying future targets for strain improvement. IMPORTANCE High-GC Gram-positive streptomycetes and related actinomycetes have provided more than 100 clinical drugs used as antibiotics, immunosuppressants, and antitumor drugs. Their genomes harbor biosynthetic genes for many more unknown compounds with potential as future drugs. Here we developed a useful genome-wide mutagenesis tool based on the transposon Tn5 for the study of secondary metabolism and its

  4. The RNAPII-CTD Maintains Genome Integrity through Inhibition of Retrotransposon Gene Expression and Transposition.

    Directory of Open Access Journals (Sweden)

    Maria J Aristizabal

    2015-10-01

    Full Text Available RNA polymerase II (RNAPII contains a unique C-terminal domain that is composed of heptapeptide repeats and which plays important regulatory roles during gene expression. RNAPII is responsible for the transcription of most protein-coding genes, a subset of non-coding genes, and retrotransposons. Retrotransposon transcription is the first step in their multiplication cycle, given that the RNA intermediate is required for the synthesis of cDNA, the material that is ultimately incorporated into a new genomic location. Retrotransposition can have grave consequences to genome integrity, as integration events can change the gene expression landscape or lead to alteration or loss of genetic information. Given that RNAPII transcribes retrotransposons, we sought to investigate if the RNAPII-CTD played a role in the regulation of retrotransposon gene expression. Importantly, we found that the RNAPII-CTD functioned to maintaining genome integrity through inhibition of retrotransposon gene expression, as reducing CTD length significantly increased expression and transposition rates of Ty1 elements. Mechanistically, the increased Ty1 mRNA levels in the rpb1-CTD11 mutant were partly due to Cdk8-dependent alterations to the RNAPII-CTD phosphorylation status. In addition, Cdk8 alone contributed to Ty1 gene expression regulation by altering the occupancy of the gene-specific transcription factor Ste12. Loss of STE12 and TEC1 suppressed growth phenotypes of the RNAPII-CTD truncation mutant. Collectively, our results implicate Ste12 and Tec1 as general and important contributors to the Cdk8, RNAPII-CTD regulatory circuitry as it relates to the maintenance of genome integrity.

  5. High incidence of interchromosomal transpositions in the evolutionary history of a subset of or genes in Drosophila.

    Science.gov (United States)

    Conceição, Inês C; Aguadé, Montserrat

    2008-04-01

    In insects, the odorant receptor (Or) multigene family is an intermediate-sized family with genes present in all chromosomes, indicating that duplication followed by interchromosomal transposition played an important role in the early stages of the family evolution. Here, we have explored the occurrence of interchromosomal transpositions in more recent stages through the comparative analysis of a subset of Or genes in Drosophila, where the gene content of chromosomal arms is highly conserved. The studied subset consisted of 11 Or genes located on the left arm of chromosome 3 (Muller's D element) in D. melanogaster. Our study focused on the number and chromosomal arm location of these members of the family across the 12 Drosophila species with complete genome sequences. In contrast to previous results from in situ hybridization comparative mapping that were mainly based on single-copy genes, our study, based on members of a multigene family of moderate size, revealed repeated interchromosomal transposition events and a complex history of some of the studied genes.

  6. Extensive libraries of gene truncation variants generated by in vitro transposition

    Science.gov (United States)

    Morelli, Aleardo; Cabezas, Yari; Mills, Lauren J.

    2017-01-01

    Abstract The detailed analysis of the impact of deletions on proteins or nucleic acids can reveal important functional regions and lead to variants with improved macromolecular properties. We present a method to generate large libraries of mutants with deletions of varying length that are randomly distributed throughout a given gene. This technique facilitates the identification of crucial sequence regions in nucleic acids or proteins. The approach utilizes in vitro transposition to generate 5΄ and 3΄ fragment sub-libraries of a given gene, which are then randomly recombined to yield a final library comprising both terminal and internal deletions. The method is easy to implement and can generate libraries in three to four days. We used this approach to produce a library of >9000 random deletion mutants of an artificial RNA ligase enzyme representing 32% of all possible deletions. The quality of the library was assessed by next-generation sequencing and detailed bioinformatics analysis. Finally, we subjected this library to in vitro selection and obtained fully functional variants with deletions of up to 18 amino acids of the parental enzyme that had been 95 amino acids in length. PMID:28130425

  7. Museographic transposition

    DEFF Research Database (Denmark)

    Mortensen, Marianne Foss

    2010-01-01

    Science museums define the objectives of their exhibitions in terms of visitor learning outcomes, yet exhibition engineering staff lack theoretical and empirical research findings on which to base the creation of these educational environments. Here, a first step towards providing such research...... is reported. Museographic transposition was used as an analytical framework to investigate the development of an existing museum exhibit on animal adaptations to darkness. The analysis yielded a descriptive model of exhibition engineering as a three-stage process in which simultaneous processes...

  8. Change of gene structure and function by non-homologous end-joining, homologous recombination, and transposition of DNA.

    Directory of Open Access Journals (Sweden)

    Wolfgang Goettel

    2009-06-01

    Full Text Available An important objective in genome research is to relate genome structure to gene function. Sequence comparisons among orthologous and paralogous genes and their allelic variants can reveal sequences of functional significance. Here, we describe a 379-kb region on chromosome 1 of maize that enables us to reconstruct chromosome breakage, transposition, non-homologous end-joining, and homologous recombination events. Such a high-density composition of various mechanisms in a small chromosomal interval exemplifies the evolution of gene regulation and allelic diversity in general. It also illustrates the evolutionary pace of changes in plants, where many of the above mechanisms are of somatic origin. In contrast to animals, somatic alterations can easily be transmitted through meiosis because the germline in plants is contiguous to somatic tissue, permitting the recovery of such chromosomal rearrangements. The analyzed region contains the P1-wr allele, a variant of the genetically well-defined p1 gene, which encodes a Myb-like transcriptional activator in maize. The P1-wr allele consists of eleven nearly perfect P1-wr 12-kb repeats that are arranged in a tandem head-to-tail array. Although a technical challenge to sequence such a structure by shotgun sequencing, we overcame this problem by subcloning each repeat and ordering them based on nucleotide variations. These polymorphisms were also critical for recombination and expression analysis in presence and absence of the trans-acting epigenetic factor Ufo1. Interestingly, chimeras of the p1 and p2 genes, p2/p1 and p1/p2, are framing the P1-wr cluster. Reconstruction of sequence amplification steps at the p locus showed the evolution from a single Myb-homolog to the multi-gene P1-wr cluster. It also demonstrates how non-homologous end-joining can create novel gene fusions. Comparisons to orthologous regions in sorghum and rice also indicate a greater instability of the maize genome, probably due to

  9. Rapid and efficient introduction of a foreign gene into bacterial artificial chromosome-cloned varicella vaccine by Tn7-mediated site-specific transposition

    International Nuclear Information System (INIS)

    Somboonthum, Pranee; Koshizuka, Tetsuo; Okamoto, Shigefumi; Matsuura, Masaaki; Gomi, Yasuyuki; Takahashi, Michiaki; Yamanishi, Koichi; Mori, Yasuko

    2010-01-01

    Using a rapid and reliable system based on Tn7-mediated site-specific transposition, we have successfully constructed a recombinant Oka varicella vaccine (vOka) expressing the mumps virus (MuV) fusion protein (F). The backbone of the vector was our previously reported vOka-BAC (bacterial artificial chromosome) genome. We inserted the transposon Tn7 attachment sequence, LacZα-mini-attTn7, into the region between ORF12 and ORF13 to generate a vOka-BAC-Tn genome. The MuV-F expressing cassette was transposed into the vOka-BAC genome at the mini-attTn7 transposition site. MuV-F protein was expressed in recombinant virus, rvOka-F infected cells. In addition, the MuV-F protein was cleaved in the rvOka-F infected cells as in MuV-infected cells. The growth of rvOka-F was similar to that of the original recombinant vOka without the F gene. Thus, we show that Tn7-mediated transposition is an efficient method for introducing a foreign gene expression cassette into the vOka-BAC genome as a live virus vector.

  10. Characterization of Growth and Reproduction Performance, Transgene Integration, Expression, and Transmission Patterns in Transgenic Pigs Produced by piggyBac Transposition-Mediated Gene Transfer.

    Science.gov (United States)

    Zeng, Fang; Li, Zicong; Cai, Gengyuan; Gao, Wenchao; Jiang, Gelong; Liu, Dewu; Urschitz, Johann; Moisyadi, Stefan; Wu, Zhenfang

    2016-10-01

    Previously we successfully produced a group of EGFP-expressing founder transgenic pigs by a newly developed efficient and simple pig transgenesis method based on cytoplasmic injection of piggyBac plasmids. In this study, we investigated the growth and reproduction performance and characterized the transgene insertion, transmission, and expression patterns in transgenic pigs generated by piggyBac transposition. Results showed that transgene has no injurious effect on the growth and reproduction of transgenic pigs. Multiple copies of monogenic EGFP transgene were inserted at noncoding sequences of host genome, and passed from founder transgenic pigs to their transgenic offspring in segregation or linkage manner. The EGFP transgene was ubiquitously expressed in transgenic pigs, and its expression intensity was associated with transgene copy number but not related to its promoter DNA methylation level. To the best of our knowledge, this is first study that fully described the growth and reproduction performance, transgene insertion, expression, and transmission profiles in transgenic pigs produced by piggyBac system. It not only demonstrates that piggyBac transposition-mediated gene transfer is an effective and favorable approach for pig transgenesis, but also provides scientific information for understanding the transgene insertion, expression and transmission patterns in transgenic animals produced by piggyBac transposition.

  11. Imprinted genes and transpositions: epigenomic targets for low dose radiation effects. Final report

    International Nuclear Information System (INIS)

    Jirtle, Randy L.

    2012-01-01

    The overall hypothesis of this grant application is that low dose ionizing radiation (LDIR) elicits adaptive responses in part by causing heritable DNA methylation changes in the epigenome. This novel postulate was tested by determining if the level of DNA methylation at the Agouti viable yellow (A vy ) metastable locus is altered, in a dose-dependent manner, by low dose radiation exposure ( vy locus in a sex-specific manner (p=0.004). Average DNA methylation was significantly increased in male offspring exposed to doses between 0.7 cGy and 7.6 cGy with maximum effects at 1.4 cGy and 3.0 cGy (p<0.01). Offspring coat color was concomitantly shifted towards pseudoagouti (p<0.01). Maternal dietary antioxidant supplementation mitigated both the DNA methylation changes and coat color shift in the irradiated offspring (p<0.05). Thus, LDIR exposure during gestation elicits epigenetic alterations that lead to positive adaptive phenotypic changes that are negated with antioxidants, indicating they are mediated in part by oxidative stress. These findings provide evidence that in the isogenic Avy mouse model epigenetic alterations resulting from LDIR play a role in radiation hormesis, bringing into question the assumption that every dose of radiation is harmful. Our findings not only have significant implications concerning the mechanism of hormesis, but they also emphasize the potential importance of this phenomenon in determining human risk at low radiation doses. Since the epigenetic regulation of genes varies markedly between species, the effect of LDIR on other epigenetically labile genes (e.g. imprinted genes) in animals and humans needs to be defined

  12. Imprinted genes and transpositions: epigenomic targets for low dose radiation effects. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Jirtle, Randy L.

    2012-10-11

    The overall hypothesis of this grant application is that low dose ionizing radiation (LDIR) elicits adaptive responses in part by causing heritable DNA methylation changes in the epigenome. This novel postulate was tested by determining if the level of DNA methylation at the Agouti viable yellow (A{sup vy}) metastable locus is altered, in a dose-dependent manner, by low dose radiation exposure (<10 cGy) during early gestation. This information is particularly important to ascertain given the increased use of CT scans in disease diagnosis, increased number of people predicted to live and work in space, and the present concern about radiological terrorism. We showed for the first time that LDIR significantly increased DNA methylation at the A{sup vy} locus in a sex-specific manner (p=0.004). Average DNA methylation was significantly increased in male offspring exposed to doses between 0.7 cGy and 7.6 cGy with maximum effects at 1.4 cGy and 3.0 cGy (p<0.01). Offspring coat color was concomitantly shifted towards pseudoagouti (p<0.01). Maternal dietary antioxidant supplementation mitigated both the DNA methylation changes and coat color shift in the irradiated offspring (p<0.05). Thus, LDIR exposure during gestation elicits epigenetic alterations that lead to positive adaptive phenotypic changes that are negated with antioxidants, indicating they are mediated in part by oxidative stress. These findings provide evidence that in the isogenic Avy mouse model epigenetic alterations resulting from LDIR play a role in radiation hormesis, bringing into question the assumption that every dose of radiation is harmful. Our findings not only have significant implications concerning the mechanism of hormesis, but they also emphasize the potential importance of this phenomenon in determining human risk at low radiation doses. Since the epigenetic regulation of genes varies markedly between species, the effect of LDIR on other epigenetically labile genes (e.g. imprinted genes) in

  13. Deletions, duplications and transpositions of the COR segment that encompasses the structural gene of yeast iso-1-cytochrome c

    Energy Technology Data Exchange (ETDEWEB)

    Stiles, J.I.; Friedman, L.R.; Sherman, F.

    1980-01-01

    It has been recently found that a specific chromosomal segment, in certain but not all laboratory strains of Saccharomyces cerevisiae, is deleted and transposed at high frequencies. This segment, denoted COR, encompasses the three closely linked loci CYC1, OSM1 and RAD7 which control iso-1-cytochrome c, osmotic sensitivity and UV-sensitivity, respectively. Two types of apparently normal laboratory strains of yeast designated COR1 and COR2, were uncovered after the examination of the frequencies and types of mutations causing either deficiencies or overproduction of iso-1-cytochrome c; in contrast to COR1 strains which give predominantly point mutations causing deficiencies of iso-1-cytochrome c, COR2 strains give rise to deletions and transpositions of the COR segment. We have undertaken a systematic investigation of the physical structure and genetic properties of the COR region and of the aberrations arising in COR2 strains.

  14. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  15. Genetic analysis of a gene cluster for cyclohexanol oxidation in Acinetobacter sp. Strain SE19 by in vitro transposition.

    Science.gov (United States)

    Cheng, Q; Thomas, S M; Kostichka, K; Valentine, J R; Nagarajan, V

    2000-09-01

    Biological oxidation of cyclic alcohols normally results in formation of the corresponding dicarboxylic acids, which are further metabolized and enter the central carbon metabolism in the cell. We isolated an Acinetobacter sp. from an industrial wastewater bioreactor that utilized cyclohexanol as a sole carbon source. A cosmid library was constructed from Acinetobacter sp. strain SE19, and oxidation of cyclohexanol to adipic acid was demonstrated in recombinant Escherichia coli carrying a SE19 DNA segment. A region that was essential for cyclohexanol oxidation was localized to a 14-kb fragment on the cosmid DNA. Several putative open reading frames (ORFs) that were expected to encode enzymes catalyzing the conversion of cyclohexanol to adipic acid were identified. Whereas one ORF showed high homology to cyclohexanone monooxygenase from Acinetobacter sp. strain NCIB 9871, most of the ORFs showed only moderate homology to proteins in GenBank. In order to assign functions of the various ORFs, in vitro transposon mutagenesis was performed using the cosmid DNA as a target. A set of transposon mutants with a single insertion in each of the ORFs was screened for cyclohexanol oxidation in E. coli. Several of the transposon mutants accumulated a variety of cyclohexanol oxidation intermediates. The in vitro transposon mutagenesis technique was shown to be a powerful tool for rapidly assigning gene functions to all ORFs in the pathway.

  16. Bounded Rationality in Transposition Processes

    DEFF Research Database (Denmark)

    Vollaard, Hans; Martinsen, Dorte Sindbjerg

    2014-01-01

    Studies explaining the timeliness and correctness of the transposition of EU directives into national legislation have provided rather inconclusive findings. They do not offer a clear-cut prediction concerning the transposition of the patients’ rights directive, which is one of the first that con......Studies explaining the timeliness and correctness of the transposition of EU directives into national legislation have provided rather inconclusive findings. They do not offer a clear-cut prediction concerning the transposition of the patients’ rights directive, which is one of the first...... that concerns the organisation and financing of national healthcare systems. This article applies the perspective of bounded rationality to explain (irregularities in) the timely and correct transposition of EU directives. The cognitive and organisational constraints long posited by the bounded rationality...

  17. Transposition of the great arteries

    Directory of Open Access Journals (Sweden)

    Castela Eduardo

    2008-10-01

    Full Text Available Abstract Transposition of the great arteries (TGA, also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA discordance. The incidence is estimated at 1 in 3,500–5,000 live births, with a male-to-female ratio 1.5 to 3.2:1. In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD and left ventricular outflow tract obstruction is frequent and dictates timing and clinical presentation, which consists of cyanosis with or without congestive heart failure. The onset and severity depend on anatomical and functional variants that influence the degree of mixing between the two circulations. If no obstructive lesions are present and there is a large VSD, cyanosis may go undetected and only be perceived during episodes of crying or agitation. In these cases, signs of congestive heart failure prevail. The exact aetiology remains unknown. Some associated risk factors (gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, maternal use of antiepileptic drugs have been postulated. Mutations in growth differentiation factor-1 gene, the thyroid hormone receptor-associated protein-2 gene and the gene encoding the cryptic protein have been shown implicated in discordant VA connections, but they explain only a small minority of TGA cases. The diagnosis is confirmed by echocardiography, which also provides the morphological details required for future surgical management. Prenatal diagnosis by foetal echocardiography is possible and desirable, as it may improve the early neonatal management and reduce morbidity and mortality. Differential diagnosis includes other causes of central neonatal cyanosis. Palliative treatment with prostaglandin E1 and balloon atrial septostomy are usually

  18. Ectopic Hydrocele After Testicular Transposition.

    Science.gov (United States)

    Berli, Jens U; Zelken, Jonathan; Schuyler, Kyle; Naslund, Michael; Rasko, Yvonne

    2016-04-01

    A 55-year-old man was treated for Fournier gangrene in 2004 with radical debridement and bilateral testicular transposition to the medial thighs. Eight years later, bilateral hydroceles formed. After conservative measures failed for treatment of the hydroceles, the condition was treated during desired testicular relocation, and creation of a neoscrotum. In the case presented, bilateral thigh hydroceles may have developed from lymphatic injury during testicular transposition. To our knowledge, this is the first case report of bilateral hydrocele testis in the medial thigh pouches following ectopic testicular transposition. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. THE TRANSPOSITION AXIOM IN HYPERCOMPOSITIONAL STRUCTURES

    Directory of Open Access Journals (Sweden)

    Ch.G. Massouros

    2011-12-01

    theory of automata and graph theory. This paper deals with transposition hypergroups. It also introduces the transposition axiom to weaker structures, which result from the hypergroup by the removal of certain axioms, thus defining the transposition hypergroupoid, the transposition semi-hypergroup and the transposition quasi-hypergroup. Finally, it presents hypercompositional structures with internal or external compositions and hypercompositions, in which the transposition axiom is valid. Such structures emerged during the study of formal languages and the theory of automata through the use of hypercompositional algebra.

  20. Pig transgenesis by Sleeping Beauty DNA transposition.

    Science.gov (United States)

    Jakobsen, Jannik E; Li, Juan; Kragh, Peter M; Moldt, Brian; Lin, Lin; Liu, Ying; Schmidt, Mette; Winther, Kjeld Dahl; Schyth, Brian Dall; Holm, Ida E; Vajta, Gábor; Bolund, Lars; Callesen, Henrik; Jørgensen, Arne Lund; Nielsen, Anders Lade; Mikkelsen, Jacob Giehm

    2011-06-01

    Modelling of human disease in genetically engineered pigs provides unique possibilities in biomedical research and in studies of disease intervention. Establishment of methodologies that allow efficient gene insertion by non-viral gene carriers is an important step towards development of new disease models. In this report, we present transgenic pigs created by Sleeping Beauty DNA transposition in primary porcine fibroblasts in combination with somatic cell nuclear transfer by handmade cloning. Göttingen minipigs expressing green fluorescent protein are produced by transgenesis with DNA transposon vectors carrying the transgene driven by the human ubiquitin C promoter. These animals carry multiple copies (from 8 to 13) of the transgene and show systemic transgene expression. Transgene-expressing pigs carry both transposase-catalyzed insertions and at least one copy of randomly inserted plasmid DNA. Our findings illustrate critical issues related to DNA transposon-directed transgenesis, including coincidental plasmid insertion and relatively low Sleeping Beauty transposition activity in porcine fibroblasts, but also provide a platform for future development of porcine disease models using the Sleeping Beauty gene insertion technology.

  1. Transposition of the Greater Arteries (TGA)

    Science.gov (United States)

    ... in adults Atrial Septal Defect Ventricular Septal Defect Tetralogy of Fallot Atrioventricular Canal Defect Transposition of the Great Arteries ... Select Topic Atrial Septal Defect Ventricular Septal Defect Tetralogy of Fallot Atrioventricular Canal Defect Transposition of the Great Arteries ...

  2. Intrahepatic transposition of bile ducts.

    Science.gov (United States)

    Delić, Jasmin; Savković, Admedina; Isaković, Eldar; Marković, Sergije; Bajtarevic, Alma; Denjalić, Amir

    2012-01-01

    Objective. To describe the intrahepatic bile duct transposition (anatomical variation occurring in intrahepatic ducts) and to determine the frequency of this variation. Material and Methods. The researches were performed randomly on 100 livers of adults, both sexes. Main research methods were anatomical macrodissection. As a criterion for determination of variations in some parts of bile tree, we used the classification of Segmentatio hepatis according to Couinaud (1957) according to Terminologia Anatomica, Thieme Stuugart: Federative Committee on Anatomical Terminology, 1988. Results. Intrahepatic transposition of bile ducts was found in two cases (2%), out of total examined cases (100): right-left transposition (right segmental bile duct, originating from the segment VIII, joins the left liver duct-ductus hepaticus sinister) and left-right intrahepatic transposition (left segmental bile duct originating from the segment IV ends in right liver duct-ductus hepaticus dexter). Conclusion. Safety and success in liver transplantation to great extent depends on knowledge of anatomy and some common embryological anomalies in bile tree. Variations in bile tree were found in 24-43% of cases, out of which 1-22% are the variations of intrahepatic bile ducts. Therefore, good knowledge on ductal anatomy enables good planning, safe performance of therapeutic and operative procedures, and decreases the risk of intraoperative and postoperative complications.

  3. Non-conformable, partial and conformable transposition

    DEFF Research Database (Denmark)

    König, Thomas; Mäder, Lars Kai

    2013-01-01

    Although member states are obliged to transpose directives into domestic law in a conformable manner and receive considerable time for their transposition activities, we identify three levels of transposition outcomes for EU directives: conformable, partially conformable and non-conformable...... and the Commission regarding a directive’s outcome, play a much more strategic role than has to date acknowledged in the transposition literature. Whereas disagreement of a member state delays conformable transposition, it speeds up non-conformable transposition. Disagreement of the Commission only prolongs...

  4. Methods of Transposition of Nurses between Wards

    Science.gov (United States)

    Miyazaki, Shigeji; Masuda, Masakazu

    In this paper, a computer-implemented method for automating the transposition of a hospital’s nursing staff is proposed. The model is applied to the real case example ‘O’ hospital, which performs a transposition of its nursing staff once a year. Results are compared with real data obtained from this hospital’s current manual transposition system. The proposed method not only significantly reduces the time taken to construct the transposition, thereby significantly reducing management labor costs, but also is demonstrated to increase nurses’ levels of satisfaction with the process.

  5. Transposition and national level resources

    DEFF Research Database (Denmark)

    Vasev, Nikolay Rumenov; Vrangbæk, Karsten

    2014-01-01

    Several recent papers have summarised the status of EU implementation studies. In this paper we suggest that the issue of sector specific resources has received too little attention in previous studies. Sector specific resources include “health sector resources” and “state administrative resources......”. Our theoretical contribution is thus to add an explicit and more detailed concern for "sector specific resources" in national transposition. This can refine the understanding of resources, for example in the multi-variable models that are emerging as the state of the art in the field of EU...

  6. Syllable Transposition Effects in Korean Word Recognition

    Science.gov (United States)

    Lee, Chang H.; Kwon, Youan; Kim, Kyungil; Rastle, Kathleen

    2015-01-01

    Research on the impact of letter transpositions in visual word recognition has yielded important clues about the nature of orthographic representations. This study investigated the impact of syllable transpositions on the recognition of Korean multisyllabic words. Results showed that rejection latencies in visual lexical decision for…

  7. Indication of transposition of a mobile DNA element containing the vat(D) and erm(B) genes in Enterococcus faecium

    DEFF Research Database (Denmark)

    Hammerum, Anette Marie; Flannagan, S.E.; Clewell, D.B.

    2001-01-01

    The vat(D) and erm(B) genes encoding streptogramin resistance in Enterococcus faecium transferred together, and a direct physical link between erm(B) and vat(D) was detected. Both the vat(D) and erm(B) probes hybridized to fragments of different sizes in the donor and transconjugants, which...

  8. Transposition revisited: New classification and notation system

    Directory of Open Access Journals (Sweden)

    Anshu Rai

    2016-01-01

    Full Text Available Introduction: Dental transposition is a rare and severe anomaly of eruptive position with varied expression. Previously, tooth transpositions have been classified according to the teeth and jaw involved, or by designating specific terms to the different types of transposition (e.g., complete/incomplete, true/false, partial, simple, coronal, and pseudotransposition. However, there is no comprehensive classification-notation system for transposition in literature that systematically discriminates the condition and presents utmost facts for the same. Materials and Methods: To know all the possible types of tooth transposition, literature was searched in PubMed and Medline library, with the keyword “tooth transposition.” A total of 494 articles were obtained. These articles were read, and all possible types of transposition were noted. The obtained data were analyzed systematically and comparatively to design a new classification-notation system. Result and Conclusion: This classification-notation system is outlined to avoid confusion, to ease communication, and to provide a better understanding of the prevailing anomaly. It is easy to remember and convey maximum information. Further, to make it easy for computer archiving, some abbreviations and symbols are added to this classification-notation system.

  9. Methylation affects transposition and splicing of a large CACTA transposon from a MYB transcription factor regulating anthocyanin synthase genes in soybean seed coats.

    Directory of Open Access Journals (Sweden)

    Gracia Zabala

    Full Text Available We determined the molecular basis of three soybean lines that vary in seed coat color at the R locus which is thought to encode a MYB transcription factor. RM55-r(m is homozygous for a mutable allele (r(m that specifies black and brown striped seeds; RM30-R* is a stable black revertant isoline derived from the mutable line; and RM38-r has brown seed coats due to a recessive r allele shown to translate a truncated MYB protein. Using long range PCR, 454 sequencing of amplicons, and whole genome re-sequencing, we determined that the variegated RM55-r(m line had a 13 kb CACTA subfamily transposon insertion (designated TgmR* at a position 110 bp from the beginning of Intron2 of the R locus, Glyma09g36983. Although the MYB encoded by R was expressed at only very low levels in older seed coats of the black revertant RM30-R* line, it upregulated expression of anthocyanidin synthase genes (ANS2, ANS3 to promote the synthesis of anthocyanins. Surprisingly, the RM30-R* revertant also carried the 13 kb TgmR* insertion in Intron2. Using RNA-Seq, we showed that intron splicing was accurate, albeit at lower levels, despite the presence of the 13 kb TgmR* element. As determined by whole genome methylation sequencing, we demonstrate that the TgmR* sequence was relatively more methylated in RM30-R* than in the mutable RM55-r(m progenitor line. The stabilized and more methylated RM30-R* revertant line apparently lacks effective binding of a transposae to its subterminal repeats, thus allowing intron splicing to proceed resulting in sufficient MYB protein to stimulate anthocyanin production and thus black seed coats. In this regard, the TgmR* element in soybean resembles McClintock's Spm-suppressible and change-of-state alleles of maize. This comparison explains the opposite effects of the TgmR* element on intron splicing of the MYB gene in which it resides depending on the methylation state of the element.

  10. Parallel transposition of sparse data structures

    DEFF Research Database (Denmark)

    Wang, Hao; Liu, Weifeng; Hou, Kaixi

    2016-01-01

    transposition for sparse matrices and graphs, have not received the attention they deserve. In this paper, we first identify that the transposition operation can be a bottleneck of some fundamental sparse matrix and graph algorithms. Then, we revisit the performance and scalability of parallel transposition...... approaches on x86-based multi-core and many-core processors. Based on the insights obtained, we propose two new parallel transposition algorithms: ScanTrans and MergeTrans. The experimental results show that our ScanTrans method achieves an average of 2.8-fold (up to 6.2-fold) speedup over the parallel......Many applications in computational sciences and social sciences exploit sparsity and connectivity of acquired data. Even though many parallel sparse primitives such as sparse matrix-vector (SpMV) multiplication have been extensively studied, some other important building blocks, e.g., parallel...

  11. IncP-1ε plasmids are important vectors of antibiotic resistance genes in agricultural systems: diversification driven by class 1 integron gene cassettes

    Directory of Open Access Journals (Sweden)

    Holger eHeuer

    2012-01-01

    Full Text Available The role of broad host range IncP-1ε plasmids in the dissemination of antibiotic resistance in agricultural systems has not yet been investigated. These plasmids were detected in total DNA from all of 16 manure samples and in arable soil based on a novel 5’-nuclease assay for real time PCR. A correlation between IncP-1ε plasmid abundance and antibiotic usage was revealed. In a soil microcosm experiment the abundance of IncP-1ε plasmids was significantly increased even 127 days after application of manure containing the antibiotic compound sulfadiazine, compared to soil receiving only manure, only sulfadiazine, or water. Fifty IncP-1ε plasmids that were captured in E. coli CV601gfp from bacterial communities of manure and arable soil were characterized by PCR and hybridisation. All plasmids carried class 1 integrons with highly varying sizes of the gene cassette region and the sul1 gene. Three IncP-1ε plasmids captured from soil bacteria and one from manure were completely sequenced. The backbones were nearly identical to that of the previously described IncP-1ε plasmid pKJK5. The plasmids differed mainly in the composition of a Tn402-like transposon carrying a class 1 integron with varying gene cassettes, IS1326, and in three of the plasmids the tetracycline resistance transposon Tn1721 with various truncations. Diverse Beta- and Gammaproteobacteria were revealed as hosts of one of the IncP-1ε plasmids in soil microcosms. Our data suggest that IncP-1ε plasmids are important vectors for horizontal transfer of antibiotic resistance in agricultural systems.

  12. Permanent magnet machine with windings having strand transposition

    Science.gov (United States)

    Qu, Ronghai; Jansen, Patrick Lee

    2009-04-21

    This document discusses, among other things, a stator with transposition between the windings or coils. The coils are free from transposition to increase the fill factor of the stator slots. The transposition at the end connections between an inner coil and an outer coil provide transposition to reduce circulating current loss. The increased fill factor reduces further current losses. Such a stator is used in a dual rotor, permanent magnet machine, for example, in a compressor pump, wind turbine gearbox, wind turbine rotor.

  13. Neural transposition in the Drosophila brain: is it all bad news?

    Science.gov (United States)

    Waddell, Scott; Barnstedt, Oliver; Treiber, Christoph

    2014-01-01

    Transposition of mobile genetic elements can radically alter genome structure and sequence. In doing so, they can alter gene expression and cellular function. Perhaps unsurprisingly, this potentially catastrophic process is heavily constrained, especially in the germ line where aberrations lead to sterility or could be passed onto the next generation. However, recent studies in mammals and fruit flies suggest that transposition happens at measurable levels in the brain, and possibly more so in some cell types than in others. This has led to the suggestion that certain cell types may utilize transposable elements to diversify cellular properties. In this review, we discuss these findings and ideas in light of our current understanding of transposons and their control in the fly, and the growing evidence for an involvement of transposition in neurological disease in humans. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Omental transposition for low pelvic anastomoses.

    Science.gov (United States)

    Topor, B; Acland, R D; Kolodko, V; Galandiuk, S

    2001-11-01

    Surgeons' opinions differ regarding the role of the omentum in low pelvic intestinal anastomoses. This study was undertaken to define the anatomy and surgical technique of omental transposition to the pelvis. We studied 45 cadavers to elucidate surgical aspects of omental mobilization, lengthening, and transposition into the pelvic cavity. In addition, intraoperative studies of omental transposition to the pelvis were performed in 20 patients with chronic ulcerative colitis, familial adenomatous polyposis, and rectal cancer who were undergoing ileal J-pouch anal anastomosis or low anterior resection. The most important anatomic variables for omental transposition are three variants of arterial blood supply: (1) In 56% of patients, there is one right, one (or two) middle, and one left omental artery. (2) In 26% of patients, the middle omental artery is absent. (3) In the remaining 18% of patients, the gastroepiploic artery is continued as a left omental artery but with various smaller connections to the right or middle omental artery. The first stage of omental lengthening is detachment of the omentum from the transverse colon mesentery. This must be performed carefully, as the omentum is closely adherent to the right transverse mesocolon. The second stage is the actual lengthening of the omentum. The third stage is placement of the omental flap into the pelvis. Creation of an omental pedicle is a simple surgical procedure. This procedure can be performed quickly, does not involve significant blood loss, and may reduce the frequency of complications after low pelvic anastomoses.

  15. Corrected transposition of the great arteries

    International Nuclear Information System (INIS)

    Choi, Young Hi; Park, Jae Hyung; Han, Man Chung

    1981-01-01

    The corrected transposition of the great arteries is an usual congenital cardiac malformation, which consists of transposition of great arteries and ventricular inversion, and which is caused by abnormal development of conotruncus and ventricular looping. High frequency of associated cardiac malformations makes it difficult to get accurate morphologic diagnosis. A total of 18 cases of corrected transposition of the great arteries is presented, in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between September 1976 and June 1981. The clinical, radiographic, and operative findings with the emphasis on the angiocardiographic findings were analyzed. The results are as follows: 1. Among 18 cases, 13 cases have normal cardiac position, 2 cases have dextrocardia with situs solitus, 2 cases have dextrocardia with situs inversus and 1 case has levocardia with situs inversus. 2. Segmental sets are (S, L, L) in 15 cases, and (I, D,D) in 3 cases and there is no exception to loop rule. 3. Side by side interrelationships of both ventricles and both semilunar valves are noticed in 10 and 12 cases respectively. 4. Subaortic type conus is noted in all 18 cases. 5. Associated cardic malformations are VSD in 14 cases, PS in 11, PDA in 3, PFO in 3, ASD in 2, right aortic arch in 2, tricuspid insufficiency, mitral prolapse, persistent left SVC and persistent right SVC in 1 case respectively. 6. For accurate diagnosis of corrected TGA, selective biventriculography using biplane cineradiography is an essential procedure

  16. Pig transgenesis by Sleeping Beauty DNA transposition

    DEFF Research Database (Denmark)

    Jakobsen, Jannik E.; Li, Juan; Kragh, Peter M.

    2011-01-01

    disease models. In this report, we present transgenic pigs created by Sleeping Beauty DNA transposition in primary porcine fibroblasts in combination with somatic cell nuclear transfer by handmade cloning. Göttingen minipigs expressing green fluorescent protein are produced by transgenesis with DNA...... transposon vectors carrying the transgene driven by the human ubiquitin C promoter. These animals carry multiple copies (from 8 to 13) of the transgene and show systemic transgene expression. Transgene-expressing pigs carry both transposase-catalyzed insertions and at least one copy of randomly inserted...

  17. TRANSPOSITION OF GREAT ARTERIES: NEW INSIGHTS INTO THE PATHOGENESIS

    Directory of Open Access Journals (Sweden)

    Marta eUnolt

    2013-06-01

    Full Text Available Transposition of great arteries (TGA is one of the most common and severe congenital heart diseases (CHD. It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an alternative physiological model of blood circulation and its etiology and morphogenesis are still largely unknown. However, recent epidemiologic, experimental and genetic data suggest new insights into the pathogenesis. TGA is very rarely associated with the most frequent genetic syndromes, such as Turner, Noonan, Williams or Marfan syndromes, and in Down syndrome, it is virtually absent. The only genetic syndrome with a strong relation with TGA is Heterotaxy. Moreover, TGA is rather frequent in cases of isolated dextrocardia with situs solitus, showing link with defect of visceral situs. In lateralization defects TGA is frequently associated with asplenia syndrome. Nowadays, the most reliable method to induce TGA consists in treating pregnant mice with retinoic acid or with retinoic acid inhibitors. Following such treatment not only cases of TGA with d-ventricular loop have been registered, but also some cases of congenitally corrected transposition of great arteries (CCTGA. In another experiment, the embryos of mice treated with retinoic acid in day 6.5 presented Heterotaxy, suggesting a relationship among these morphologically different CHD. In some families, beside TGA cases, there were first-degree relatives with CCTGA. This data suggest that monogenic inheritance with a variable phenotypic expression could explain the familial aggregation of TGA and CCTGA. In some of these families we previously found multiple mutations in laterality genes including Nodal and ZIC3, confirming a pathogenetic relation between TGA and Heterotaxy. These overall data suggest to include TGA in the pathogenetic group of laterality defects instead of conotruncal abnormalities due to ectomesenchymal tissue migration.

  18. Transposition pattern of a modified Ds element in tomato

    NARCIS (Netherlands)

    Rommens, Caius M.T.; Munyikwa, Tichafa R.I.; Overduin, Bert; Nijkamp, H. John J.; Hille, Jacques

    1993-01-01

    Several aspects of transposition of an in vitro modified Ds element are described. This Ds element, designated Ds-r, is equipped with bacterial plasmid sequences and can, therefore, be rescued from the plant genome. Our results indicate that the Ds-r element has a 'late' timing of transposition from

  19. Correction of incomplete penoscrotal transposition by a modified ...

    African Journals Online (AJOL)

    Purpose: Penoscrotal transposition may be partial or complete, resulting in variable degrees of positional exchanges between the penis and the scrotum. Repairs of penoscrotal transposition rely on the creation of rotational flaps to mobilise the scrotum downwards or transpose the penis to a neo hole created in the skin of ...

  20. Inactivation of a transgene due to transposition of insertion ...

    Indian Academy of Sciences (India)

    Agrobacterium strains harbour insertion sequences, which are known to transpose into genomes as well as into Ti plasmids. In this study we report the inactivation of a transgene due to transposition of the A. tumefaciens insertion sequence IS136. The transposition was discovered following transformation of plant tissues, ...

  1. Nydiagnosticeret kongenit transposition hos en 76-årig kvinde

    DEFF Research Database (Denmark)

    Sloth, Astrid Drivsholm; Jensen, Jesper Khedri; Hald Steffensen, Flemming

    2009-01-01

    A case of congenitally corrected transposition presenting for the first time with second-degree AV block in a 76-year-old woman is presented. This case demonstrates that congenitally corrected transposition can remain asymptomatic and undiagnosed, especially when no other cardiac defects are pres...

  2. Pig transgenesis by piggyBac transposition in combination with somatic cell nuclear transfer.

    Science.gov (United States)

    Wu, Zhenfang; Xu, Zhiqian; Zou, Xian; Zeng, Fang; Shi, Junsong; Liu, Dewu; Urschitz, Johann; Moisyadi, Stefan; Li, Zicong

    2013-12-01

    The production of animals by somatic cell nuclear transfer (SCNT) is inefficient, with approximately 2% of micromanipulated oocytes going to term and resulting in live births. However, it is the most commonly used method for the generation of cloned transgenic livestock as it facilitates the attainment of transgenic animals once the nuclear donor cells are stably transfected and more importantly as alternatives methods of transgenesis in farm animals have proven even less efficient. Here we describe piggyBac-mediated transposition of a transgene into porcine primary cells and use of these genetically modified cells as nuclear donors for the generation of transgenic pigs by SCNT. Gene transfer by piggyBac transposition serves to provide an alternative approach for the transfection of nuclear donor cells used in SCNT.

  3. Influence of ciprofloxacin and vancomycin on mutation rate and transposition of IS256 in Staphylococcus aureus.

    Science.gov (United States)

    Nagel, Michael; Reuter, Tina; Jansen, Andrea; Szekat, Christiane; Bierbaum, Gabriele

    2011-03-01

    In Staphylococcus aureus, the development of intermediate resistance to vancomycin is due to an accumulation of mutations. To elucidate the mechanisms involved here, a standard laboratory strain (S. aureus HG001) and a clinical MRSA mutator strain (S. aureus SA1450/94, which is characterized by a spontaneous insertion of IS256 into the gene of the mismatch repair enzyme MutS) were incubated at subinhibitory concentrations of ciprofloxacin and vancomycin. Ciprofloxacin increased the mutation rates of both strains, but this effect was inhibited when the SOS response was blocked by the presence of a non-cleavable variant of the LexA repressor. In the presence of vancomycin, the mutation rate was slightly elevated in the mutator strain, and this increase also depended on the strain's ability to induce the SOS response. Furthermore, treatment with subinhibitory concentrations of both antibiotics resulted in an activation of transposition frequency of the insertion element IS256 in S. aureus HG001. Transposition was dependent on the presence of a functional transposase, and the activation of transposition depended on the presence of the functional phosphatase RsbU, which activates SigB transcription activity. An in silico analysis indicated a putative antisense sigma B promoter sequence within the transposase gene. Scrambling of this promoter resulted in an about 20-fold activation of transposition activity of IS256. These data indicate that sigma B is involved in the regulation of IS256 activity by generation of an antisense RNA. Copyright © 2010 Elsevier GmbH. All rights reserved.

  4. Counterselection and co-delivery of transposon and transposase functions for Sleeping Beauty-mediated transposition in cultured mammalian cells.

    Science.gov (United States)

    Converse, Andrea D; Belur, Lalitha R; Gori, Jennifer L; Liu, Geyi; Amaya, Felipe; Aguilar-Cordova, Estuardo; Hackett, Perry B; McIvor, R Scott

    2004-12-01

    Sleeping Beauty (SB) is a gene-insertion system reconstructed from transposon sequences found in teleost fish and is capable of mediating the transposition of DNA sequences from transfected plasmids into the chromosomes of vertebrate cell populations. The SB system consists of a transposon, made up of a gene of interest flanked by transposon inverted repeats, and a source of transposase. Here we carried out a series of studies to further characterize SB-mediated transposition as a tool for gene transfer to chromosomes and ultimately for human gene therapy. Transfection of mouse 3T3 cells, HeLa cells, and human A549 lung carcinoma cells with a transposon containing the neomycin phosphotransferase (NEO) gene resulted in a several-fold increase in drug-resistant colony formation when co-transfected with a plasmid expressing the SB transposase. A transposon containing a methotrexate-resistant dihydrofolate reductase gene was also found to confer an increased frequency of methotrexate-resistant colony formation when co-transfected with SB transposase-encoding plasmid. A plasmid containing a herpes simplex virus thymidine kinase gene as well as a transposon containing a NEO gene was used for counterselection against random recombinants (NEO+TK+) in medium containing G418 plus ganciclovir. Effective counterselection required a recovery period of 5 days after transfection before shifting into medium containing ganciclovir to allow time for transiently expressed thymidine kinase activity to subside in cells not stably transfected. Southern analysis of clonal isolates indicated a shift from random recombination events toward transposition events when clones were isolated in medium containing ganciclovir as well as G418. We found that including both transposon and transposase functions on the same plasmid substantially increased the stable gene transfer frequency in Huh7 human hepatoma cells. The results from these experiments contribute technical and conceptual insight into

  5. Lateralization Technique and Inferior Alveolar Nerve Transposition

    Directory of Open Access Journals (Sweden)

    Angélica Castro Pimentel

    2016-01-01

    Full Text Available Bone resorption of the posterior mandible can result in diminished bone edge and, therefore, the installation of implants in these regions becomes a challenge, especially in the presence of the mandibular canal and its contents, the inferior alveolar nerve. Several treatment alternatives are suggested: the use of short implants, guided bone regeneration, appositional bone grafting, distraction osteogenesis, inclined implants tangential to the mandibular canal, and the lateralization of the inferior alveolar nerve. The aim was to elucidate the success rate of implants in the lateralization technique and in inferior alveolar nerve transposition and to determine the most effective sensory test. We conclude that the success rate is linked to the possibility of installing implants with long bicortical anchor which favors primary stability and biomechanics.

  6. A 5-methylcytosine DNA glycosylase/lyase demethylates the retrotransposon Tos17 and promotes its transposition in rice

    KAUST Repository

    La, Honggui

    2011-09-06

    DNA 5-methylcytosine (5-meC) is an important epigenetic mark for transcriptional gene silencing in many eukaryotes. In Arabidopsis, 5-meC DNA glycosylase/lyases actively remove 5-meC to counter-act transcriptional gene silencing in a locus-specific manner, and have been suggested to maintain the expression of transposons. However, it is unclear whether plant DNA demethylases can promote the transposition of transposons. Here we report the functional characterization of the DNA glycosylase/lyase DNG701 in rice. DNG701 encodes a large (1,812 amino acid residues) DNA glycosylase domain protein. Recombinant DNG701 protein showed 5-meC DNA glycosylase and lyase activities in vitro. Knockout or knockdown of DNG701 in rice plants led to DNA hypermethylation and reduced expression of the retrotransposon Tos17. Tos17 showed less transposition in calli derived from dng701 knockout mutant seeds compared with that in wild-type calli. Overexpression of DNG701 in both rice calli and transgenic plants substantially reduced DNA methylation levels of Tos17 and enhanced its expression. The overexpression also led to more frequent transposition of Tos17 in calli. Our results demonstrate that rice DNG701 is a 5-meC DNA glycosylase/lyase responsible for the demethylation of Tos17 and this DNA demethylase plays a critical role in promoting Tos17 transposition in rice calli.

  7. The power of norms in the transposition of EU directives

    Directory of Open Access Journals (Sweden)

    Dimitrova

    2005-11-01

    Full Text Available Transposition research provides an excellent opportunity to bring new data to bear on two of the most dominant theoretical approaches to European Union studies: rational choice institutionalism and sociological institutionalism. Yet the goal of comparable testing is hampered by the underspecified nature of the sociological perspective. This paper takes some steps towards identifying and operationalising a sociological explanation of the transposition of EU directives. Examining an array of alternatives, we single out an approach that focuses on the transmission of norms as a way to explain transposition delay and content changes, and on persuasion to help explain norm change over time. To probe the validity of our explanation, we apply it to a case study of the transposition of two anti-discrimination directives from 2000 in Slovakia. In short, our paper aims to move forward the search for a testable sociological framework in EU studies, while offering an operational approach to studying the process of transposing EU directives.

  8. Resolving the prevalence of somatic transposition inDrosophila.

    Science.gov (United States)

    Treiber, Christoph D; Waddell, Scott

    2017-07-25

    Somatic transposition in mammals and insects could increase cellular diversity and neural mobilization has been implicated in age-dependent decline. To understand the impact of transposition in somatic cells it is essential to reliably measure the frequency and map locations of new insertions. Here we identified thousands of putative somatic transposon insertions in neurons from individual Drosophila melanogaster using whole-genome sequencing. However, the number of de novo insertions did not correlate with transposon expression or fly age. Analysing our data with exons as 'immobile genetic elements' revealed a similar frequency of unexpected exon translocations. A new sequencing strategy that recovers transposon: chromosome junction information revealed most putative de novo transposon and exon insertions likely result from unavoidable chimeric artefacts. Reanalysis of other published data suggests similar artefacts are often mistaken for genuine somatic transposition. We conclude that somatic transposition is less prevalent in Drosophila than previously envisaged.

  9. Theoretical Basics of the Transpositional Grammar of Russian Language

    Directory of Open Access Journals (Sweden)

    Victor Vasilievich Shigurov

    2016-09-01

    Full Text Available The article presents the theoretical basics of the transpositional grammar of the Russian language (as the special areas of the functional grammar, which serves as a mechanism for describing the subject of the transposition of the linguistic units from one class (or interclass semantic-syntactic category to another (or others. The relation to the transposition of the grammar and vocabulary (word-formation was displayed; a typology of the transpositional processes in grammatical structure of the Russian language was submitted, and above all, in the parts of the speech and inter part-of-speech classes, grammatical categories and lexical-grammatical classes; general and specific objectives of the study types of transposition of the linguistic units were defined; the fragments of the description of the transition and syncretism of the language units were offered using the technique of opposition analysis and indexation. The results can be used in the development of the theory of the transpositional grammar of the Russian language.

  10. Extended bias-factor data transposition method

    International Nuclear Information System (INIS)

    Gandini, A.

    1985-01-01

    The importance of experimental campaigns in relation to the design of a specific reference project is well recognized. In these cases, a number of quantities, significant with respect to the major integral parameters relevant to the reference system are measured in an experimental facility (in particular, physical and/or engineering mock-up), and then transposed to the reference system itself. In cases in which the experimental facility is very similar, only minor corrections are generally necessary and the simple, well known, bias-factor transposition (BFT) method can be successfully adopted. But if the two systems differ to some extent and/or if quantities in the experimental facility somehow differ from those of the reference design are considered, although the useful information contained in the measurements remains significant, making full use of it may become a problem. An extension of the simple BFT method is then proposed, so that full use of the available experimental information can be made. This extended methodology can be used as well for optimal experimental planning in view of specific design objectives

  11. Tibiofibula Transposition in High-Energy Fractures

    Directory of Open Access Journals (Sweden)

    Peter R. Loughenbury

    2016-01-01

    Full Text Available We report two cases of failed attempts at closed reduction of high-energy tibial fractures with an associated fibula fracture. The first case was a 39-year-old male involved in high-speed motorbike collision, while the second was a 14-year-old male who injured his leg following a fall of three metres. Emergency medical services at the scenes of the accidents reported a 90-degree valgus deformity of the injured limb and both limbs were realigned on scene and stabilized. Adequate alignment of the tibia could not be achieved by manipulation under sedation or anaesthesia. Open reduction and exposure of the fracture sites revealed that the distal fibula fragment was “transposed” and entrapped in the medulla of the proximal tibial fragment. Reduction required simulation of the mechanism of injury in order to disengage the fragments and allow reduction. Tibiofibula transposition is a rare complication of high-energy lower limb fractures which has not previously been reported and may prevent adequate closed reduction. Impaction of the distal fibula within the tibial medulla occurs as the limb is realigned by paramedic staff before transfer to hospital. We recommend that when this complication is identified the patient is transferred to the operating room for open reduction and stabilization of the fracture.

  12. Omental transposition flap for sternal wound reconstruction in diabetic patients.

    Science.gov (United States)

    Stump, Amy; Bedri, Mazen; Goldberg, Nelson H; Slezak, Sheri; Silverman, Ronald P

    2010-08-01

    In 2004, we published our 12-year experience with tissue transfer for deep sternal wound infection after median sternotomy, finding increased rates of reoperation for diabetic patients. Therefore, we decided to alter our treatment approach to diabetic patients to include sternal debridement followed by omental transposition. Eleven diabetic patients underwent omental transposition by our division during the study period. Hospital records were retrospectively reviewed to determine outcomes and complications. We found that diabetic patients treated after implementation of the new treatment approach were 5.4 times less likely to require reoperation for sternal wound management than were patients in the previous series, most of whom had been treated with pectoralis muscle flaps (95% confidence interval, 0.5- 50.5). By altering our treatment approach to use omental transposition as the initial surgical therapy, we were able to demonstrate a trend toward decreased need for flap revision in diabetic patients.

  13. Surgery for transposition of great arteries: A historical perspective

    Directory of Open Access Journals (Sweden)

    Supreet P Marathe

    2015-01-01

    Full Text Available The history of surgery for transposition of great arteries (TGA has paralleled the history of cardiac surgery. In fact, it began before the birth of open heart surgery when the palliative Blalock-Hanlon septectomy was first performed in 1948. The atrial switch, which was an attempt to correct the physiology of transposition, had significant shortcomings. The arterial switch sought to address them. This has emerged as an anatomically as well as physiologically appropriate solution. Today we continue to pursue technical refinements as well as try to expand the indications of the arterial switch. This review traces the various milestones in this perpetual journey.

  14. Demonstration of IS711 transposition in Brucella ovis and Brucella pinnipedialis

    Directory of Open Access Journals (Sweden)

    García-Lobo Juan M

    2008-01-01

    Full Text Available Abstract Background The Brucella genome contains an insertion sequence (IS element called IS711 or IS6501, which is specific to the genus. The copy number of IS711 varies in the genome of the different Brucella species, ranging from 7 in B. abortus, B. melitensis and B. suis to more than 30 in B. ovis and in Brucella strains isolated from marine mammals. At present, there is no experimental evidence of transposition of IS711, but the occurrence of this element with a high copy number in some species, and the isolation of Brucella strains with "ectopic" copies of IS711 suggested that this IS could still transpose. Results In this study we obtained evidence of transposition of IS711 from the B. ovis and B. pinnipedialis chromosomes by using the "transposon trap" plasmid pGBG1. This plasmid expresses resistance to tetracycline only if the repressor gene that it contains is inactivated. The strains B. melitensis 16 M, B. abortus RB51, B. ovis BOC22 (field strain and B. pinnipedialis B2/94, all containing the plasmid pGBG1, were grown in culture media with tetracycline until the appearance of tetracycline resistant mutants (TcR. TcR mutants due to IS711 transposition were only detected in B. ovis and B. pinnipedialis strains. Conclusion Four different copies of IS711 were found to transpose to the same target sequence in the plasmid pGBG1. This demonstrated that IS711 are active in vivo, specially in Brucella species with a high number of IS711 copies as B. ovis and B. pinnipedialis.

  15. The complex genetic context of blaPER-1 flanked by miniature inverted-repeat transposable elements in Acinetobacter johnsonii.

    Directory of Open Access Journals (Sweden)

    Zhiyong Zong

    Full Text Available On a large plasmid of Acinetobacter johnsonii strain XBB1 from hospital sewage, blaPER-1 and ISCR1 were found in a complex Tn402-like integron carrying an arr3-aacA4 cassette array. The integron was truncated by the same 439-bp miniature inverted-repeat transposable element (MITE at both ends. blaPER-1 and its complex surroundings might have been mobilized by the MITEst into an orf of unknown function, evidenced by the presence of the characteristic 5-bp direct target repeats. The same 439-bp MITEs have also been found flanking class 1 integrons carrying metallo-β-lactamases genes bla IMP-1, bla IMP-5 and bla VIM-2 before but without ISCR1. Although the cassette arrays are different, integrons have always been truncated by the 439-bp MITEs at the exact same locations. The results suggested that MITEs might be able to mobilize class 1 integrons via transposition or homologous recombination and therefore represent a possible common mechanism for mobilizing antimicrobial resistance determinants.

  16. TilE PARADOX OF PEDAGOGY TRANSPOSITION: Learning From ...

    African Journals Online (AJOL)

    TilE PARADOX OF PEDAGOGY TRANSPOSITION: Learning From Inhibitors to Teacher Change: Lessons from a Zimbabwean. Research Project in Environmental Education. Kathy Stiles. Definition of paradox used in this paper is "a person or thing conflicting with a preconceived notion of what is reasonable or possible" ...

  17. Analysis of phage Mu DNA transposition by whole-genome ...

    Indian Academy of Sciences (India)

    In vitro, MuB protein is responsible for target choice. In this work, we provide a comprehensive assessment of the genome-wide distribution of MuB and its relationship to Mu target selection using high-resolution Escherichia coli tiling DNA arrays. We have also assessed how MuB binding and Mu transposition are influenced ...

  18. Analysis of phage Mu DNA transposition by whole-genome ...

    Indian Academy of Sciences (India)

    by chromosome-organizing elements such as AT-rich DNA signatures, or the binding of the nucleoid-associated protein Fis, or ... able elements (TEs) have learnt to balance self-propagation with host survival. ..... Genome wide mapping of Mu transposition targets and MuB binding on the E. coli chromosome. Top panel, an ...

  19. Correction of incomplete penoscrotal transposition by a modified ...

    African Journals Online (AJOL)

    hypospadias can be performed in the same sitting or in another sitting, without or with minimal complications. Conclusion: This modification, which maintains the penile skin connected to the skin of the lower abdomen by a small strip of skin during correction of penoscrotal transposition, prevents post-operative oedema and

  20. Esthetics with prosthetics in case of maxillary canine transposition: A ...

    African Journals Online (AJOL)

    2011-03-16

    Mar 16, 2011 ... of the dental arch. Rehabilitating the patient with missing anterior teeth accompanied by transposition of one or more teeth in “smile” zone is a challenge. Patients who are reluctant for orthodontic treatment and implant surgery are managed with prosthodontic treatment alone, keeping in mind principles of ...

  1. Esthetics with prosthetics in case of maxillary canine transposition: A ...

    African Journals Online (AJOL)

    Esthetics with prosthetics in case of maxillary canine transposition: A clinical report. ... provides a helpful Frequently Asked Questions about PDFs. Alternatively, you can download the PDF file directly to your computer, from where it can be opened using a PDF reader. To download the PDF, click the Download link above.

  2. Esthetics with prosthetics in case of maxillary canine transposition: A ...

    African Journals Online (AJOL)

    These are mainly genetically governed and are treated orthodontically if complete segment of tooth is present; in case of missing teeth, participation of cosmetic dentist is must. The present case report describes a situation where left canine to lateral incisor complete transposition was present along with a missing left central ...

  3. Relational Learning in a Context of Transposition: A Review

    Science.gov (United States)

    Lazareva, Olga F.

    2012-01-01

    In a typical transposition task, an animal is presented with a single pair of stimuli (for example, S3+S4-, where plus and minus denote reward and nonreward and digits denote stimulus location on a sensory dimension such as size). Subsequently, an animal is presented with a testing pair that contains a previously reinforced or nonreinforced…

  4. Anterior transposition of the radial nerve--a cadaveric study.

    Science.gov (United States)

    Yakkanti, Madhusudhan R; Roberts, Craig S; Murphy, Joshua; Acland, Robert D

    2008-01-01

    The radial nerve is at risk during the posterior plating of the humerus. The purpose of this anatomic study was to assess the extent of radial nerve dissection required for anterior transposition through the fracture site (transfracture anterior transposition). A cadaver study was conducted approaching the humerus by a posterior midline incision. The extent of dissection of the nerve necessary for plate fixation of the humerus fracture was measured. An osteotomy was created to model a humeral shaft fracture at the spiral groove (OTA classification 12-A2, 12-A3). The radial nerve was then transposed anterior to the humeral shaft through the fracture site. The additional dissection of the radial nerve and the extent of release of soft tissue from the humerus shaft to achieve the transposition were measured. Plating required a dissection of the radial nerve 1.78 cm proximal and 2.13 cm distal to the spiral groove. Transfracture anterior transposition of the radial nerve required an average dissection of 2.24 cm proximal and 2.68 cm distal to the spiral groove. The lateral intermuscular septum had to be released for 2.21 cm on the distal fragment to maintain laxity of the transposed nerve. Transfracture anterior transposition of the radial nerve before plating is feasible with dissection proximal and distal to the spiral groove and elevation of the lateral intermuscular septum. Potential clinical advantages of this technique include enhanced fracture site visualization, application of broader plates, and protection of the radial nerve during the internal fixation.

  5. Irradiation-induced Deinococcus radiodurans genome fragmentation triggers transposition of a single resident insertion sequence.

    Directory of Open Access Journals (Sweden)

    Cécile Pasternak

    2010-01-01

    Full Text Available Stress-induced transposition is an attractive notion since it is potentially important in creating diversity to facilitate adaptation of the host to severe environmental conditions. One common major stress is radiation-induced DNA damage. Deinococcus radiodurans has an exceptional ability to withstand the lethal effects of DNA-damaging agents (ionizing radiation, UV light, and desiccation. High radiation levels result in genome fragmentation and reassembly in a process which generates significant amounts of single-stranded DNA. This capacity of D. radiodurans to withstand irradiation raises important questions concerning its response to radiation-induced mutagenic lesions. A recent study analyzed the mutational profile in the thyA gene following irradiation. The majority of thyA mutants resulted from transposition of one particular Insertion Sequence (IS, ISDra2, of the many different ISs in the D. radiodurans genome. ISDra2 is a member of a newly recognised class of ISs, the IS200/IS605 family of insertion sequences.

  6. Ileal transposition in surgical treatment for type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Oleg Viktorovich Kornyushin

    2015-03-01

    Full Text Available High prevalence and insufficient efficacy of medical treatment in type 2 diabetes mellitus (T2DM poses a major challenge for medical care. Generally, only 30% of patients reach therapeutic goals, while remission occurs only in the minority of patients. In the obese (BMI>35 kg/m2, bariatric surgery provides an alternative to pharmacological treatment of T2DM, boosting remission/compensation rate up to 76.8%. A few recent clinical studies explored the anti-diabetic effect of ileal transposition (IT. This type of surgery targets restoration of incretin balance by proximal transposition of ileal segment. In this review, we discuss the salutary mechanisms of IT in T2DM based on the analysis of the pioneering clinical trials.

  7. Different Points of View Concerning the Didactic Transposition

    Directory of Open Access Journals (Sweden)

    Késia Caroline Ramires Neves

    2011-10-01

    Full Text Available The present article treats the concept of Didactic Transposition, taking as reference the work of Yves Chevallard, La transposición didáctica: del saber sabio al saber enseñado (2005. We compared the adduction of the concept in several works, such as thesis, dissertations and articles, and discussed the multiple impressions concerning the process of didactic transposition. These papers show that the conceptualizations are not well defined, entailing dubiousness and discussions. Some differences accrue from different areas of science, distinct of mathematics, others are inherent on the original ideas in Chevallard (2005, paper that served as bibliographical reference for the majority of the studied works.

  8. Corrected transposition of great arteries; Skorygowane przelozenie wielkich pni tetniczych

    Energy Technology Data Exchange (ETDEWEB)

    Erecinski, J.; Aleszewicz-Baranowska, J.; Chojnicki, M.; Sabiniewicz, R. [Inst. Pediatrii, Akademia Medyczna, Gdansk (Poland)

    1995-12-31

    20 patients with the diagnosis of congenital corrected transposition of great arteries were analyzed. The diagnosis was based on routine clinical examination, echocardiography and in certain cases on heart catheterization and angiocardiography. In the most cases c-TGA coexists with additional heart defects. The commonest coexisting defects were: ventricular septal defect (60%), pulmonary stenosis (50%), atrio-ventricular valve regurgitation, predominantly systemic (tricuspid 45%). In the most cases 2D Doppler echo examination was sufficient for morphological assessment. In order to quality to cardiosurgical treatment heart catheterization and angiocardiography were necessary. 5 children were treated surgically. 3 of them underwent palliative procedures, one - Rastelli procedure and one had corrective surgery with bad result. Clinical picture of corrected transposition of great arteries is determined by coexisting additional heart defects. (author) 15 refs, 6 figs, 1 tab

  9. Current indications and results for thoracoplasty and intrathoracic muscle transposition.

    Science.gov (United States)

    Krassas, Athanase; Grima, Renaud; Bagan, Patrick; Badia, Alain; Arame, Alex; Barthes, Françoise Le Pimpec; Riquet, Marc

    2010-05-01

    Thoracoplasty has lost much of its popularity and is being supplanted by space-reduction operations using muscle flaps. Our purpose is to retrospectively study the remaining indications and the evolving modifications of this ancient technique in our current surgical practice. From 1994 to 2008, 35 patients underwent a thoracoplasty procedure in a single thoracic surgery centre for treatment of infectious complications of previous thoracic surgery. The number and length of ribs excised were dictated by the size and location of the thoracic cavity to obliterate. Muscle flaps were used to buttress bronchial fistulas and to fill out residual spaces. We reviewed the immediate and long-term results concerning infection control and procedure tolerance. The infectious complications of previous thoracic surgery were related to cancer in 25, tuberculosis in six, oesophageo-pleural fistula in two, ruptured lung abscess and pleural thickening in one each. The thoracoplasty procedure was performed for: (1) post-pneumonectomy empyema, n=20 (bronchial fistula, n=11; open window thoracostomy, n=14; mean number of resected ribs, n=7.5; associated intrathoracic muscle transposition, n=12; postoperative death, n=3); (2) post-lobectomy empyema, n=8 (bronchial fistula n=8; open window thoracostomy n=1; mean number of resected ribs n=3.6; associated intrathoracic muscle transposition n=7; no death); (3) other indications, n=7 (mean number of resected ribs n=4.8; associated intrathoracic muscle transposition n=3; no death). All patients discharged from the hospital except one were cured and did not complain of symptoms of secondary lung function and shoulder impairment. Although thoracoplasty is rarely indicated nowadays, this does not imply that the procedure should be avoided. Thoracoplasty may be associated with myoplasty, which permits achieving complete space obliteration by combining resection of a few rib segments and limited intrathoracic muscle transposition. Copyright 2009

  10. Neuroanatomical correlates of musical transposition in adolescents: A longitudinal approach

    Directory of Open Access Journals (Sweden)

    Mary Elizabeth eSutherland

    2013-12-01

    Full Text Available Musicians are trained in melodic transposition, the skill of extracting the pitch interval structure and moving it into different keys. This ability to recognize whether a melody is the same or altered when it is played back in a different key is correlated with both greater neural activation and cortical thickness in bilateral intraparietal sulcus (IPS. Musical training only explains part of this finding, suggesting that the ability to transpose a melody may have innate predispositions. The current study was designed to address this question: Are the anatomical correlates of musical transposition already present in non-musician children at age 14.5? If so, is there any evidence that those traits were already in place at earlier ages? To answer this question, we recruited 47 adolescents (age 14.5 years from a longitudinal study and tested them on a melodic transposition task. These adolescents had already undergone anatomical MRI imaging at the ages of 10, 11.5, 13, and 14.5 years. They were tested on the transposition task at age 14.5. During this visit, we found a relationship between cortical thickness in left IPS and performance on the transposed melody task in the girls and not the boys; no such relationship was observed at any of the earlier ages. Girls reach more advanced staged of pubertal maturation earlier than boys, it is possible that the relationship between cortical thickness in IPS and skill at melodic transposition only emerges once the brain has reached a certain degree of maturity. This claim is supported by a lack of similar sex differences in the adults: the degree of correlation between cortical thickness and performance on the same transposed melody task did not differ between men and women in a previous study. Thus, our results suggest that the relationship between cortical thickness and the ability to transpose a melody is not fixed, and that the effects observed in adults are neither due exclusively to training nor to

  11. Unaugmented vertical muscle transposition surgery for chronic sixth nerve paralysis.

    Science.gov (United States)

    Bansal, Shveta; Khan, Javeed; Marsh, Ian B

    2006-12-01

    Chronic sixth nerve palsy can cause incapacitating diplopia requiring vertical muscle transposition surgery. Augmentation of surgery, with lateral fixation sutures, medial rectus recession or botulinum toxin injection, is associated with an increased risk of complications. Our aim was to evaluate the efficacy and safety of unaugmented full-tendon vertical rectus transposition in chronic sixth nerve paralysis. Longitudinal study of 21 patients with chronic sixth nerve paralysis of longer than 6 months duration, who underwent superior and inferior recti transposition surgery without medial rectus recession or botulinum toxin injection. Details of surgery, preoperative and postoperative examinations including full orthoptic examination were obtained from an electronic database. Outcomes included the change in angle of deviation, the requirement for further surgery to the medial rectus and postoperative improvement in diplopia. SPSS software (Version 12.0.1, SPSS Inc. Chicago, IL) was used to summarize baseline characteristics and outcomes and to compare preoperative and postoperative deviation (paired t-test). Twenty-one patients (10 (47.6%) men and 11 (52.4%) women) with a mean age of 41 years (range 4 to 74 years) were operated in the period between April 1998 and November 2000. Eighteen patients had unilateral and three had bilateral acquired sixth nerve palsy. Nineteen patients required unilateral surgery and two had bilateral transposition procedures. In patients with unilateral sixth nerve palsy, mean esotropia in primary position before surgery was 46.7 prism-diopters (PD) (95% CI 35.9-57.4 PD) and improved to 14.6 PD after surgery (95% CI 6.4-22.7 PD). The angle of deviation was significantly reduced by an average of 32.1 PD (p < 0.001, paired t-test; 95% CI 22.6-41.6 PD). Over all, 10 patients (55.6%) had a well-controlled esophoria with a postoperative alignment of within 10 PD of orthophoria without diplopia in the primary position, for distance and near. A

  12. Considerations and concerting on the european directive transposition to the internal gas market

    International Nuclear Information System (INIS)

    Bricq, N.

    1999-10-01

    In the framework of the directive 98/30/CE transposition on the the gas internal market, a report has been asked by the First Ministry to define the new form of the gas utilities. The directive deals with the competition opening. The first part presents the gas market organization in France, today and after the transposition. The second part analyses the big stakes of this transposition. (A.L.B)

  13. Unilateral and bilateral dental transpositions in the maxilla-dental and skeletal findings in 63 individuals.

    Science.gov (United States)

    Danielsen, J C; Karimian, K; Ciarlantini, R; Melsen, B; Kjær, I

    2015-12-01

    This was to elucidate dental and skeletal findings in individuals with unilateral and bilateral maxillary dental transpositions. The sample comprised of radiographic materials from 63 individuals with maxillary dental transpositions from the Departments of Odontology at the Universities of Copenhagen and Aarhus and by the Danish municipal orthodontic service. The cases were divided into three groups: unilateral transposition of the canine and first premolar (Type 1U), bilateral transposition of canine and first premolar (Type 1B), and unilateral transposition of canine and lateral incisor (Type 2). The dentitions were analysed regarding agenesis and dental morphological anomalies on panoramic radiographs, and craniofacial aspects were cephalometrically analysed on profile images The results were statistically evaluated. All groups demonstrated increased occurrences of agenesis (Type 1U and Type 1B: 31 agenesis in 15 patients; and Type 2 three agenesis in three patients). Taurodontic root morphology was most dominant in Type 1U. Peg-shaped lateral incisors showed an increased occurrence, though not in Type 1U. Skeletally, Type 1B and Type 1U demonstrated maxillary retrognathia (more pronounced in Type 1B). Type 2 showed a significant posterior inclination of the maxilla. Transpositions of maxillary canines involve dental and skeletal deviations. Dental deviations were predominantly taurodontic root morphology and agenesis. Regarding skeletal deviations, bilateral transpositions of the canines and the first premolars are associated with skeletal changes. Unilateral transpositions are possibly a localised deviation with minor or no skeletal involvements. The results indicate a possible difference in the aetiologies of unilateral and bilateral transpositions.

  14. Gene duplication as a major force in evolution

    Indian Academy of Sciences (India)

    Molecular mechanisms of gene duplication. Duplicated genes may be produced by unequal crossing over, retrotransposition, duplicated DNA transposition and polyploidization. Unequal crossing over. Unequal crossing over produces tandem repeated sequences,. i.e. continuous repeats of DNA sequence. Depending on.

  15. Clinical outcome in MPFL reconstruction with and without tuberositas transposition.

    Science.gov (United States)

    Mulliez, A; Lambrecht, D; Verbruggen, D; Van Der Straeten, C; Verdonk, P; Victor, J

    2017-09-01

    There are several surgical options for recurrent patella dislocations. As the reconstruction of the medial patellofemoral ligament (MPFL) has been proven to restore stability, it has become more accepted. Aim of this study was to investigate the clinical outcome after MPFL reconstruction as an isolated procedure or in association with a transposition of the tibial tubercle (in case of patella alta or an excessive TT-TG) in a large prospective cohort study. Additionally, the effect on patellar height was analysed radiographically using the Caton-Deschamps index. In a large prospective cohort study of 129 knees in 124 patients (81 females, 48 males, mean age 22.8 ± 7.7 years), 91 knees received primary MPFL reconstruction (group 1) and 38 were a combination with a transposition of the tibial tubercle (group 2). The clinical follow-up was evaluated using KOOS and Kujala scores preoperatively and 1 year postoperatively. Patient satisfaction, complications and revision surgery were recorded. Overall, Kujala improved significantly from 53.5 (SD 22.7) preoperatively to 74.7 (SD 20.5) postoperatively (p < 0.01). All KOOS subdomains improved significantly (p < 0.01). No significant difference for Kujala score between groups was noticed. Revision rate was (5/129) 3.9 %. Reconstruction was supplemented with a transfer of the tibial tuberosity in (38/129) 29.4 % of the cases and shows a comparable outcome. MPFL reconstruction is a viable treatment option for episodic patellar dislocation. A concomitant tuberositas transposition is useful in selected patients. I.

  16. Regional Ulnar Nerve Strain Following Decompression and Anterior Subcutaneous Transposition in Patients With Cubital Tunnel Syndrome.

    OpenAIRE

    Foran, I; Vaz, K; Sikora-Klak, J; Ward, SR; Hentzen, ER; Shah, SB

    2016-01-01

    Simple decompression and anterior subcutaneous transposition are effective surgical interventions for cubital tunnel syndrome and yield similarly favorable outcomes. However, a substantial proportion of patients demonstrate unsatisfactory outcomes for reasons that remain unclear. We compared effects of decompression and transposition on regional ulnar nerve strain to better understand the biomechanical impacts of each strategy.Patients diagnosed with cubital tunnel syndrome and scheduled for ...

  17. IS1 transposition is enhanced by translation errors and by bacterial growth at extreme glucose levels.

    Science.gov (United States)

    Kharat, Arun S; Coursange, Evelyne; Noirclerc-Savoye, Marjolaine; Lacoste, Jérôme; Blot, Michel

    2006-01-01

    Transposition of insertion sequences (IS) is an enzyme-mediated process that only occurs in a minority of cells within a bacterial culture. Transposition is thus a rare event, but transposition frequency may vary depending on experimental conditions. For instance in a rich broth, IS elements are known to transpose during stationary phase but not during exponential growth. Using a reporter system which involves the activation of the cryptic bgl operon in Escherichia coli, we show that the frequency of IS1 transposition is a function of glucose concentration in the growth medium, it is increased by streptomycin amounts that are below minimum inhibitory concentration (sub-MIC) and is inhibited in an rpsL150 strain with high translation accuracy. Since starved cells are known to enhance ribosome frameshifting, our data suggests that growth conditions applied in this study could affect IS1 transposition by increasing translation infidelity.

  18. Performance Analysis of Transposition Models Simulating Solar Radiation on Inclined Surfaces: Preprint

    Energy Technology Data Exchange (ETDEWEB)

    Xie, Yu; Sengupta, Manajit

    2016-06-01

    Transposition models are widely used in the solar energy industry to simulate solar radiation on inclined photovoltaic (PV) panels. These transposition models have been developed using various assumptions about the distribution of the diffuse radiation, and most of the parameterizations in these models have been developed using hourly ground data sets. Numerous studies have compared the performance of transposition models, but this paper aims to understand the quantitative uncertainty in the state-of-the-art transposition models and the sources leading to the uncertainty using high-resolution ground measurements in the plane of array. Our results suggest that the amount of aerosol optical depth can affect the accuracy of isotropic models. The choice of empirical coefficients and the use of decomposition models can both result in uncertainty in the output from the transposition models. It is expected that the results of this study will ultimately lead to improvements of the parameterizations as well as the development of improved physical models.

  19. Mechanisms of LTR-Retroelement Transposition: Lessons from Drosophila melanogaster.

    Science.gov (United States)

    Nefedova, Lidia; Kim, Alexander

    2017-04-16

    Long terminal repeat (LTR) retrotransposons occupy a special place among all mobile genetic element families. The structure of LTR retrotransposons that have three open reading frames is identical to DNA forms of retroviruses that are integrated into the host genome. Several lines of evidence suggest that LTR retrotransposons share a common ancestry with retroviruses and thus are highly relevant to understanding mechanisms of transposition. Drosophila melanogaster is an exceptionally convenient model for studying the mechanisms of retrotransposon movement because many such elements in its genome are transpositionally active. Moreover, two LTRretrotransposons of D. melanogaster, gypsy and ZAM, have been found to have infectious properties and have been classified as errantiviruses. Despite numerous studies focusing on retroviral integration process, there is still no clear understanding of integration specificity in a target site. Most LTR retrotransposons non-specifically integrate into a target site. Site-specificity of integration at vertebrate retroviruses is rather relative. At the same time, sequence-specific integration is the exclusive property of errantiviruses and their derivatives with two open reading frames. The possible basis for the errantivirus integration specificity is discussed in the present review.

  20. Enucleation or exenteration in two dogs with previous parotid duct transposition: parotid duct ligation versus reverse parotid duct transposition.

    Science.gov (United States)

    Young, Whitney M; Betbeze, Caroline M; Fisher, Stephen C; Boulay, James P

    2017-08-27

    Two dogs with previous parotid duct transpositions presented with unrelated ocular disease. In both cases, ophthalmic examination revealed the need for enucleation or exenteration. In case 1, systemic coccidioidomycosis was diagnosed with panuveitis and secondary glaucoma of the left eye. In this case, the parotid duct was ligated at the time of enucleation to stop salivary secretions. This dog encountered morbidity in the form of a sialocele that did not resolve for 11 months. In case 2, ultrasound and computed tomography revealed a discrete mass within the left medial orbit that was suspected to arise from the nictitating membrane. A combination of exenteration and parotid duct transposition reversal was performed to avoid morbidity associated with ligation of the parotid duct. The dog encountered no complications from this novel procedure. This case report represents the first report of re-routing a transposed parotid duct from the ventral conjunctival sac back to the mouth at the time of enucleation or exenteration in the dog. © 2017 American College of Veterinary Ophthalmologists.

  1. Regional Ulnar Nerve Strain Following Decompression and Anterior Subcutaneous Transposition in Patients With Cubital Tunnel Syndrome.

    Science.gov (United States)

    Foran, Ian; Vaz, Kenneth; Sikora-Klak, Jakub; Ward, Samuel R; Hentzen, Eric R; Shah, Sameer B

    2016-10-01

    Simple decompression and anterior subcutaneous transposition are effective surgical interventions for cubital tunnel syndrome and yield similarly favorable outcomes. However, a substantial proportion of patients demonstrate unsatisfactory outcomes for reasons that remain unclear. We compared effects of decompression and transposition on regional ulnar nerve strain to better understand the biomechanical impacts of each strategy. Patients diagnosed with cubital tunnel syndrome and scheduled for anterior subcutaneous transposition surgery were enrolled. Simple decompression, circumferential decompression, and anterior transposition of the ulnar nerve were performed during the course of the transposition procedure. Regional ulnar nerve strain around the elbow was measured for each surgical intervention based on 4 wrist and elbow joint configurations. With elbow extension at 180°, both circumferential decompression and anterior transposition resulted in approximately 68% higher nerve strains than simple decompression. Conversely, with elbow flexion, simple decompression resulted in higher average strains than anterior transposition. Limited regional differences in strain were observed for any surgical intervention with elbow extension. However, with elbow flexion, strains were higher in distal and central regions compared with the proximal region within all surgical groups, and proximal region strain was higher after simple decompression compared with anterior transposition. As predicted by the altered anatomic course, anterior transposition results in lower ulnar nerve strains than simple decompression during elbow flexion and higher nerve strains during elbow extension. Irrespective of anatomic course, circumferential release of paraneurial tissues may also influence nerve strain. Nerve strain varies regionally and is influenced by surgery and joint configuration. Our data provide insight into how surgery resolves and redistributes traction on the ulnar nerve. These

  2. An epistemological perspective on the didactical transposition of Gaia theory

    Directory of Open Access Journals (Sweden)

    Marina de Lima-Tavares

    2001-09-01

    Full Text Available This paper is part of larger scope project in which the scientificity of the Gaia theory is analysed, intending to contribute towards a critical appraisal or the role that such a theory might have in biology teaching and in approaching the "environment" transversal theme. The Gaia theory proposes that the biosphere acts as na adaptative control system, keeping the earth in homeostasis. Some authors have proposed that this theory should be incorporated in the school curriculum. In Brazil, it already appears in some biology textbooks. The scientificity of this theory is questioned in this paper, given that its didactical transposition should be suported by a previous demonstration of its scientific nature.

  3. Unilateral and bilateral dental transpositions in the maxilla

    DEFF Research Database (Denmark)

    Danielsen, Jakob Christian; Karimian, K; Ciarlantini, R

    2015-01-01

    and lateral incisor (Type 2). The dentitions were analysed regarding agenesis and dental morphological anomalies on panoramic radiographs, and craniofacial aspects were cephalometrically analysed on profile images The results were statistically evaluated. RESULTS: All groups demonstrated increased occurrences...... of agenesis (Type 1U and Type 1B: 31 agenesis in 15 patients; and Type 2 three agenesis in three patients). Taurodontic root morphology was most dominant in Type 1U. Peg-shaped lateral incisors showed an increased occurrence, though not in Type 1U. Skeletally, Type 1B and Type 1U demonstrated maxillary...... retrognathia (more pronounced in Type 1B). Type 2 showed a significant posterior inclination of the maxilla. CONCLUSION: Transpositions of maxillary canines involve dental and skeletal deviations. Dental deviations were predominantly taurodontic root morphology and agenesis. Regarding skeletal deviations...

  4. Modified mini-abdominoplasty: navel transposition and horizontal residual scar.

    Science.gov (United States)

    Ferraro, G A; Rossano, F; Miccoli, A; Contaldo, L; D'Andrea, F

    2007-01-01

    The classic mini-abdominoplasty is a surgery generally indicated for cases in which cutaneous laxity of the abdomen's inferior region is associated with adiposity. However, in some cases, the characteristics of the abdomen are such that resort to a traditional mini-abdominoplasty would involve an unsatisfactory final result due to the unavoidable caudalization of the navel. In answer to this problem, Pontes developed the type 4 modified mini-abdominoplasty. This procedure adds to the classic technique a complete resection of the navel and its transposition so that it leaves a residual vertical scar. With our version of the technique, the scar is more aesthetic in shape and appearance, horizontal, and parallel to the suprapubic scar.

  5. Increased Ac excision (iae): Arabidopsis thaliana mutations affecting Ac transposition

    International Nuclear Information System (INIS)

    Jarvis, P.; Belzile, F.; Page, T.; Dean, C.

    1997-01-01

    The maize transposable element Ac is highly active in the heterologous hosts tobacco and tomato, but shows very much reduced levels of activity in Arabidopsis. A mutagenesis experiment was undertaken with the aim of identifying Arabidopsis host factors responsible for the observed low levels of Ac activity. Seed from a line carrying a single copy of the Ac element inserted into the streptomycin phosphotransferase (SPT) reporter fusion, and which displayed typically low levels of Ac activity, were mutagenized using gamma rays. Nineteen mutants displaying high levels of somatic Ac activity, as judged by their highly variegated phenotypes, were isolated after screening the M2 generation on streptomycin-containing medium. The mutations fall into two complementation groups, iae1 and iae2, are unlinked to the SPT::Ac locus and segregate in a Mendelian fashion. The iae1 mutation is recessive and the iae2 mutation is semi-dominant. The iae1 and iae2 mutants show 550- and 70-fold increases, respectively, in the average number of Ac excision sectors per cotyledon. The IAE1 locus maps to chromosome 2, whereas the SPT::Ac reporter maps to chromosome 3. A molecular study of Ac activity in the iae1 mutant confirmed the very high levels of Ac excision predicted using the phenotypic assay, but revealed only low levels of Ac re-insertion. Analyses of germinal transposition in the iae1 mutant demonstrated an average germinal excision frequency of 3% and a frequency of independent Ac re-insertions following germinal excision of 22%. The iae mutants represents a possible means of improving the efficiency of Ac/Ds transposon tagging systems in Arabidopsis, and will enable the dissection of host involvement in Ac transposition and the mechanisms employed for controlling transposable element activity

  6. Anterior and nasal transposition of the inferior oblique muscles.

    Science.gov (United States)

    Stager, David R; Beauchamp, George R; Wright, Weldon W; Felius, Joost; Stager, David

    2003-06-01

    When performing anterior transposition of the inferior oblique (IO) muscle, placement of the posterior suture close to the lateral border of insertion of the inferior rectus (IR) muscle decreases the incidence of antielevation syndrome (AES). We hypothesized that placement of the suture nasal to the IR muscle insertion will convert the IO muscle into an intorter and depressor. Here we present the first series of results obtained with a new procedure for the treatment of elevation in adduction with extorsion and abnormal head postures. Twenty patients with IO muscle overaction, superior oblique (SO) muscle palsy, absent SO muscles, AES, or Duane syndrome were studied. Before surgery, each patient showed at least one, but often more, of the following signs: elevation in adduction, exotropia (XT) in up gaze, abnormal head posture, and extorsion. Each underwent anterior and nasal transposition (ANT) of the IO muscle, with the new insertion typically 2 mm nasal and 2 mm posterior to the nasal border of the IR muscle insertion. Large improvements in ocular alignment, extorsion, and head posture were found in most patients. However, a poor result was noted in a patient with Y-pattern XT, who developed a mild amount of comitant XT after an extreme degree of ANT (4 mm nasal and 3 mm anterior to the nasal border of the IR muscle insertion). In Duane syndrome, ANT corrects upshoot, but downshoot may get worse. Mersilene permanent sutures, rather than dissolving suture materials, are recommended to avoid postoperative retraction of muscle fibers. ANT converts the IO muscle into an intorter and tonic depressor and can significantly improve elevation in adduction. This procedure seems particularly useful in patients with severe or recurrent congenital and acquired SO palsies, particularly as a secondary procedure. Extreme ANT may induce exotropia in the primary position.

  7. Ectopic eruption: Management of a partial mandibular lateral incisor transposition in a case report

    Directory of Open Access Journals (Sweden)

    Amirhossein Mirhashemi

    2016-01-01

    Full Text Available Introduction: tooth transposition is a rare condition especially in the mandibular arch. Management of this condition is so hard, complicated and unknown for most of the clinicians. Case report: In this report we describe a case of orthodontic management of a partial mandibular left lateral incisor and canine transposition. We used a modified lingual arch appliance for initial correction of tooth transposition, more detailing was achieved by fix treatment. Discussion: Early detection of this anomaly is very important. Providing panoramic radiography to assess the developing dentition during the age of 6 to 8 years is an apropos forethought.

  8. Mandibular Symmetrical Bilateral Canine-Lateral Incisors Transposition: Its Early Diagnosis and Treatment Considerations

    Directory of Open Access Journals (Sweden)

    Yehoshua Shapira

    2016-01-01

    Full Text Available Bilateral mandibular tooth transposition is a relatively rare dental anomaly caused by distal migration of the mandibular lateral incisors and can be detected in the early mixed dentition by radiographic examination. Early diagnosis and interceptive intervention may reduce the risk of possible transposition between the mandibular canine and lateral incisor. This report illustrates the orthodontic management of bilateral mandibular canine-lateral incisor transposition. Correct positioning of the affected teeth was achieved on the left side while teeth on the right side were aligned in their transposed position. It demonstrates the outcome of good alignment of the teeth in the dental arch.

  9. Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

    Science.gov (United States)

    Zahid, Maliha; Bais, Abha; Tian, Xin; Devine, William; Lee, Dong Ming; Yau, Cyrus; Sonnenberg, Daniel; Beerman, Lee; Khalifa, Omar; Lo, Cecilia W

    2018-01-01

    Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning. As CHD comprising transposition of the great arteries (TGA) is commonly thought to involve disturbance of left-right patterning, especially L-TGA with left-right ventricular inversion, we hypothesize CHD patients with transposition of great arteries (TGA) may have high prevalence of airway CD with increased respiratory symptoms. We recruited 75 CHD patients with isolated TGA, 28% L and 72% D-TGA. Patients were assessed using two tests typically used for evaluating airway ciliary dysfunction in patients with primary ciliary dyskinesia (PCD), a recessive sinopulmonary disease caused by respiratory ciliary dysfunction. This entailed the measurement of nasal nitric oxide (nNO), which is typically low with PCD. We also obtained nasal scrapes and conducted videomicroscopy to assess respiratory ciliary motion (CM). We observed low nNO in 29% of the patients, and abnormal CM in 57%, with 22% showing both low nNO and abnormal CM. No difference was observed for the prevalence of either low nNO or abnormal ciliary motion between patients with D vs. L-TGA. Respiratory symptoms were increased with abnormal CM, but not low nNO. Sequencing analysis showed no compound heterozygous or homozygous mutations in 39 genes known to cause PCD, nor in CFTR, gene causing cystic fibrosis. As both are recessive disorders, these results indicate TGA patients with ciliary dysfunction do not have PCD or cystic fibrosis (which can cause low nNO or abnormal ciliary motion). TGA patients have high

  10. Bilateral superior rectus transposition and medial rectus recession for bilateral sixth nerve palsy.

    Science.gov (United States)

    Dai, Shuan; Bhambhwani, Vishaal; Raoof, Naz

    2018-03-01

    To present the results of bilateral superior rectus transposition with medial rectus recession in a case of chronic bilateral sixth nerve palsy. Bilateral superior rectus transposition with medial rectus recession resulted in full correction of esotropia with resolution of horizontal diplopia, improvement in abduction, and regain of stereoacuity in our case. There was minimal limitation of adduction, with no abnormal vertical or torsional changes. Bilateral superior rectus transposition with medial rectus recession appears to be a useful procedure for surgical treatment of bilateral sixth nerve palsy with minimal side effects. Given its potential for reduced risk of anterior segment ischemia (ASI), it may have especially good value in the select group of patients at risk for ASI. Studies with larger sample size and longer follow up are needed to further evaluate this procedure and elucidate the variables in surgical technique for superior rectus transposition.

  11. Maxillary canine-first premolar transposition in the permanent dentition: treatment considerations and a case report.

    LENUS (Irish Health Repository)

    Synodinos, Philippos N

    2010-12-01

    Transposition is defined as the interchange of position between two adjacent teeth within the same quadrant of the dental arch. Permanent maxillary canine-premolar transposition is the most commonly observed transposition in the human dentition. Its prevalence is relatively low and its aetiology remains unclear, although it has been associated with genetic factors. It may also be related to a combination of localised factors such as malformation of adjacent teeth, tooth agenesis, retention of the deciduous canine and a history of local trauma. Treatment is selected on an individual case basis after thoroughly considering the overall facial and dental characteristics, duration of treatment, cost, patient preference and the orthodontist\\'s experience. This article provides a case report of maxillary canine transposition in the permanent dentition, successfully managed with orthodontic treatment.

  12. TRANSPOSITION OF THE ACETABULUM AFTER TRIPLE PELVIC OSTEOTOMY IN THE TREATMENT OF CHILDREN WITH HIP DYSPLASIA

    OpenAIRE

    M. M. Kamosko; V. E. Baskov; D. B. Barsukov; I. Y. Pozdnikin; I. V. Grigoriev

    2014-01-01

    Purpose - effectiveness assessment of 500 acetabular transpositions after triple pelvic osteotomy in the treatment of children and adolescents with dysplastic hip joint pathology. Materials and methods. Using clinical, radiographic and computed tomography techniques we analyzed long-term results of surgical treatment of 470 patients with impaired stability of the hip of dysplastic genesis aged 4-19 y.o. who underwent 500 acetabular transpositions after triple pelvic osteotomy. Results and con...

  13. Bilateral superior rectus transposition and medial rectus recession for bilateral sixth nerve palsy

    Directory of Open Access Journals (Sweden)

    Shuan Dai

    2018-03-01

    Conclusion and importance: Bilateral superior rectus transposition with medial rectus recession appears to be a useful procedure for surgical treatment of bilateral sixth nerve palsy with minimal side effects. Given its potential for reduced risk of anterior segment ischemia (ASI, it may have especially good value in the select group of patients at risk for ASI. Studies with larger sample size and longer follow up are needed to further evaluate this procedure and elucidate the variables in surgical technique for superior rectus transposition.

  14. Spatial transposition tasks in Indian sloth bears (Melursus ursinus) and Bornean sun bears (Helarctos malayanus euryspilus).

    Science.gov (United States)

    Hartmann, Daniela; Davila-Ross, Marina; Wong, Siew Te; Call, Josep; Scheumann, Marina

    2017-11-01

    Spatial transposition tasks assess individuals' ability to represent nonvisible spatial object displacements. Several nonhuman mammal species have been tested on this task including primates, cats, and dogs, but to date, great apes seem the only taxon that has repeatedly and consistently solved spatial transposition tasks. The authors investigated the ability of captive sloth and sun bears to solve spatial transposition tasks. Both species belong to the same taxonomic group as cats and dogs, but unlike them and similar to apes, they have an omnivorous diet that requires them to keep track of fruit sources in space and time. The bears were first tested on a visible displacement task and those that succeeded were further tested on a spatial transposition task that involved a 180° transposition, followed by 2 tasks with two 360° transpositions. All 7 sloth bears and 7 out of 9 sun bears solved the visible displacement task. The 180° transposition task was solved by 6 out of 7 sloth bears and 1 out of the 5 tested sun bears. Three sloth bears were tested on all 4 experiments and even solved 2-chained 360° transpositions. Control conditions were conducted showing that the bears' performance did not rely on olfactory or auditory cues. The results provide the first indication that bears might be able to track invisible objects. Further studies will be necessary to confirm these results and to control the influence of associative learning. The present study emphasizes the importance of including different animal species in the investigation of what underlies the evolution of different cognitive skills. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  15. Transposition of the Tourist-MITE mPing in yeast: an assay that retains key features of catalysis by the class 2 PIF/Harbinger superfamily

    Directory of Open Access Journals (Sweden)

    Hancock C Nathan

    2010-02-01

    Full Text Available Abstract Background PIF/Harbinger is the most recently discovered DNA transposon superfamily and is now known to populate genomes from fungi to plants to animals. Mobilization of superfamily members requires two separate element-encoded proteins (ORF1 and TPase. Members of this superfamily also mobilize Tourist-like miniature inverted repeat transposable elements (MITEs, which are the most abundant transposable elements associated with the genes of plants, especially the cereal grasses. The phylogenetic analysis of many plant genomes indicates that MITEs can amplify rapidly from one or a few elements to hundreds or thousands. The most active DNA transposon identified to date in plants or animals is mPing, a rice Tourist-like MITE that is a deletion derivative of the autonomous Ping element. Ping and the closely related Pong are the only known naturally active PIF/Harbinger elements. Some rice strains accumulate ~40 new mPing insertions per plant per generation. In this study we report the development of a yeast transposition assay as a first step in deciphering the mechanism underlying the amplification of Tourist-MITEs. Results The ORF1 and TPase proteins encoded by Ping and Pong have been shown to mobilize mPing in rice and in transgenic Arabidopsis. Initial tests of the native proteins in a yeast assay resulted in very low transposition. Significantly higher activities were obtained by mutation of a putative nuclear export signal (NES in the TPase that increased the amount of TPase in the nucleus. When introduced into Arabidopsis, the NES mutant protein also catalyzed higher frequencies of mPing excision from the gfp reporter gene. Our yeast assay retains key features of excision and insertion of mPing including precise excision, extended insertion sequence preference, and a requirement for two proteins that can come from either Ping or Pong or both elements. Conclusions The yeast transposition assay provides a robust platform for analysis of

  16. Considerations and concerting on the european directive transposition to the internal gas market; Mission de reflexion et de concertation sur la transposition de la directive europeenne sur ''le marche interieur du gaz''

    Energy Technology Data Exchange (ETDEWEB)

    Bricq, N

    1999-10-01

    In the framework of the directive 98/30/CE transposition on the the gas internal market, a report has been asked by the First Ministry to define the new form of the gas utilities. The directive deals with the competition opening. The first part presents the gas market organization in France, today and after the transposition. The second part analyses the big stakes of this transposition. (A.L.B)

  17. Transposition of the EU cogeneration directive: A vision for Portugal

    International Nuclear Information System (INIS)

    Moreira, Nuno Afonso; Monteiro, Eliseu; Ferreira, Sergio

    2007-01-01

    The potential for new, small-scale and micro-cogeneration installations in Portugal is very considerable due to the number of potential host buildings. In this work, we discuss the legal framework of the Portuguese energy market, and some modifications to accommodate the Directive, 2004/8/EC are stressed. A practical case of cogeneration is also presented, showing the application of the Annex III (b) and (c) of the Cogeneration Directive. The practical case presented shows that micro CHP can be considered highly efficient, with parameters calculated with the Directive rules. Two main improvements in Portugal's energy policy are important: improvement on the permission to access grid system and improvement on support mechanisms indexing it to PES. The Cogeneration Directive transposition is an excellent opportunity to induce a less restrictive framework for the installation of new cogeneration systems, reducing the technological barriers, namely allowing medium-voltage connection with the grid, and improving the revenues provided from these small cogeneration systems. These modifications can improve significantly the number of potential hosts for small-scale cogeneration systems. (author)

  18. Outcomes After Superior Rectus Transposition and Medial Rectus Recession Versus Vertical Recti Transposition for Sixth Nerve Palsy.

    Science.gov (United States)

    Lee, Yeon-Hee; Lambert, Scott R

    2017-05-01

    To compare the effectiveness of superior rectus transposition and medial rectus recession (SRT/MRc) vs inferior and superior rectus transposition (VRT) for acquired sixth nerve palsy. Consecutive, interventional case series. The medical records of a consecutive series of patients with acquired sixth nerve palsy who underwent VRT or SRT/MRc by a single surgeon were reviewed. The preoperative and postoperative findings were compared between the 2 groups. Eight patients (mean age, 46.8 years) underwent SRT/MRc and 8 patients underwent VRT (mean age, 51.1 years). Lateral fixation was performed on all but 4 patients in the VRT group. Preoperative esotropia in primary position and abduction deficit were similar in both groups (SRT/MRc, 41.9 prism diopter [PD], -4.6; VRT, 55.6 PD, -4.5; P = .195, 1.0). The SRT/MRc group underwent a mean MR recession of 6 (range, 5-7) mm. Four patients in the VRT later underwent MR recession (mean 5.3 mm, range 5-6 mm). In addition, 5 patients in the VRT group had 1 or more botulinum toxin injections in the medial rectus muscle. No additional procedures were performed in the SRT/MR group. Fewer additional procedures were performed with SRT/MR (SRT/MR, 0; VRT, 1.8 ± 1.2; P < .010). At last follow-up, residual esotropia (SRT/MRc, 7.1 PD; VRT, 10.3 PD; P = .442) was similar in both groups, but abduction was better in the SRT/MRc group (SRT/MR, -3.0 ± 0.7; VRT, -3.8 ± 0.4; P = .038). There were no new persistent vertical deviations or torsional diplopia. Final outcomes were similar with SRT/MRc vs VRT. However, fewer additional surgical procedures were needed with SRT/MR. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. ALGORITMA PARALEL ODD EVEN TRANSPOSITION PADA MODEL JARINGAN NON-LINIER

    Directory of Open Access Journals (Sweden)

    Ernastuti .

    2012-05-01

    Full Text Available Odd-even-transposition adalah suatu algoritma paralel yang merupakan pengembangan dari algoritma sekuensial “bubble sort”. Algoritma odd-even-transposition ini didesain khusus untuk model jaringan array linier (homogen. Untuk n elemen data, kompleksitas waktu dari algoritma bubble sort adalah O(n2, sedangkan pada odd-even-transposition yang bekerja di atas n prosesor adalah (n. Ada peningkatan kecepatan waktu pada kinerja algoritma paralel ini sebesar n kali dibanding algoritma sekuensialnya. Hypercube dimensi k adalah model jaringan non-linier (non-homogen terdiri dari n = 2k prosesor, di mana setiap prosesor berderajat k. Model jaringan Fibonacci cube dan extended Lucas cube masing-masing merupakan model subjaringan hypercube dengan jumlah prosesor < 2k prosesor dan maksimum derajat prosesornya adalah k. Pada paper ini, diperlihatkan bagaimana algoritma odd-even-transposition dapat dijalankan juga pada model jaringan komputer cluster non-linier hypercube, Fibonacci cube, dan extended Lucas cube dengan kompleksitas waktu O(n. Odd-even-transposition is a parallel algorithm which is the development of sequential algorithm “bubble sort”. Odd-even transposition algorithm is specially designed for linear array network model (homogeneous. For n data elements, the time complexity of bubble sort algorithm is O(n2, while the odd-even-transposition that works with n processor is (n. There in an increase in the speed of time on the performance of this parallel algorithms for n times than its sequential algorithm. K-dimensional hypercube is a non-linear network model (non-homogeneous consists of n = 2k processors, where each processor has k degree . Network model of Fibonacci cube and extended Lucas cube are the hypercube sub-network model with the number of processors

  20. Excision Efficiency Is Not Strongly Coupled to Transgenic Rate: Cell Type-Dependent Transposition Efficiency of Sleeping Beauty and piggyBac DNA Transposons

    Science.gov (United States)

    Kolacsek, Orsolya; Erdei, Zsuzsa; Apáti, Ágota; Sándor, Sára; Izsvák, Zsuzsanna; Ivics, Zoltán; Sarkadi, Balázs

    2014-01-01

    Abstract The Sleeping Beauty (SB) and piggyBac (PB) DNA transposons represent an emerging new gene delivery technology, potentially suitable for human gene therapy applications. Previous studies pointed to important differences between these transposon systems, depending on the cell types examined and the methodologies applied. However, efficiencies cannot always be compared because of differences in applications. In addition, “overproduction inhibition,” a phenomenon believed to be a characteristic of DNA transposons, can remarkably reduce the overall transgenic rate, emphasizing the importance of transposase dose applied. Therefore, because of lack of comprehensive analysis, researchers are forced to optimize the technology for their own “in-house” platforms. In this study, we investigated the transposition of several SB (SB11, SB32, SB100X) and PB (mPB and hyPB) variants in various cell types at three levels: comparing the excision efficiency of the reaction by real-time PCR, testing the overall transgenic rate by detecting cells with stable integrations, and determining the average copy number when using different transposon systems and conditions. We concluded that high excision activity is not always followed by a higher transgenic rate, as exemplified by the hyperactive transposases, indicating that the excision and the integration steps of transposition are not strongly coupled as previously thought. In general, all levels of transposition show remarkable differences depending on the transposase used and cell lines examined, being the least efficient in human embryonic stem cells (hESCs). In spite of the comparably low activity in those special cell types, the hyperactive SB100X and hyPB systems could be used in hESCs with similar transgenic efficiency and with reasonably low (2–3) transgene copy numbers, indicating their potential applicability for gene therapy purposes in the future. PMID:25045962

  1. Myocardial imaging in patients with transposition of the great arteries

    International Nuclear Information System (INIS)

    Ono, Yasuo; Tanimoto, Takeshi; Kohata, Tohru

    1982-01-01

    Thallium-201 myocardial imaging was performed in 21 patients with transposition of the great arteries (TGA). In the 13 pa tients with preoperative TGA, it was possible to differentiate TGA with the intact ventricular septum from TGA with associated anomalies such as patent ductus arteriosus or ventricular septal defect, and also TGA with pulmonary hypertension or pulmonary stenosis from TGA without them by evaluating the degree of thallium uptake in the free wall of the pulmonary ventricle (anatomical left ventricle). The degree of thallium uptake was well correlated with systolic pressure of the pulmonary ventricle (r = 0.98). In the 13 patients with postoperative TGA, it was less correlated with the pulmonary ventricular systolic pressure (r = 0.83). Four cases sequentially studied showed a marked decrease in thallium uptake in the pulmonary ventricle 10 to 16 months after Rastelli operation. But the corrected thallium uptake (thallium activity / ventricular systolic pressure) was more increased compared with the uptake of the systemic ventricle after the surgery. This was probably related to a decrease of the pressure load to the pulmonary ventricle following the surgery and to the fact that there should be some delay of a decrease of the ventricular mass. An increased lung uptake of thallium was noted in the cases of tricuspid regurgitation after Mustard operation, but the degree of regurgitation was not clearly correlated with the increase of thallium uptake in the lung. In five cases after Rastelli operation, one patient showed a high degree of thallium uptake of the pulmonary ventricle (anatomical right ventricle), and the conduit valve calcification and severe pulmonary stenosis were confirmed by cardiac catheterization and angiography. Thus myocardial imaging provides a reliable mean for the qualitative and quantitative assessment of TGA before and after operation. (J.P.N.)

  2. Base flipping in tn10 transposition: an active flip and capture mechanism.

    Directory of Open Access Journals (Sweden)

    Julien Bischerour

    2009-07-01

    Full Text Available The bacterial Tn5 and Tn10 transposases have a single active site that cuts both strands of DNA at their respective transposon ends. This is achieved using a hairpin intermediate that requires the DNA to change conformation during the reaction. In Tn5 these changes are controlled in part by a flipped nucleoside that is stacked on a tryptophan residue in a hydrophobic pocket of the transposase. Here we have investigated the base flipping mechanism in Tn10 transposition. As in Tn5 transposition, we find that base flipping takes place after the first nick and is required for efficient hairpin formation and resolution. Experiments with an abasic substrate show that the role of base flipping in hairpin formation is to remove the base from the DNA helix. Specific interactions between the flipped base and the stacking tryptophan residue are required for hairpin resolution later in the reaction. We show that base flipping in Tn10 transposition is not a passive reaction in which a spontaneously flipped base is captured and retained by the protein. Rather, it is driven in part by a methionine probe residue that helps to force the flipped base from the base stack. Overall, it appears that base flipping in Tn10 transposition is similar to that in Tn5 transposition.

  3. Simulation of apical and atrio-aortic VAD in patients with transposition or congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Di Molfetta, Arianna; Jacobs, Steven; Fresiello, Libera; Verbelen, Tom; Trivella, Maria G; Meyns, Bart; Ferrari, Gianfranco

    2014-01-01

    VADs could be used for transportation of the great arteries (TGA) and for congenitally corrected transposition (ccTGA) treatment. A cardiovascular numerical model (NM) may offer a useful clinical support in these complex physiopathologies. This work aims at developing and preliminarily verifying a NM of ccTGA and TGA interacting with VADs. Hemodynamic data were collected at the baseline (BL) and three months (FUP) after apical (atrio-aortic) VAD implantation in a TGA (ccTGA) patient and used in a lumped parameter NM to simulate the patient's physiopathology. Measured (MS) and simulated (SIM) data were compared. MS and SIM data are in accordance at the BL and at FUP. Cardiac output (l/min): BL_m = 2.9 ± 0.4, BL_s = 3.0 ± 0.3; FUP_m = 4.2 ± 0.2, FUP_s = 4.1 ± 0.1. Right atrial pressure (mmHg): BL_m = 21.4 ± 4.1, BL_s = 18.5 ± 4.5; FUP_m = 13 ± 4, FUP_s = 14.8 ± 3.6. Pulmonary arterial pressure (mmHg): BL_m = 56 ± 6.3,BL_s = 57 ± 2, FUP_m = 37.5 ± 7.5, FUP_s = 35.5 ± 5.9. Systemic arterial pressure (mmHg): BL_m = 71 ± 2, BL_s = 74.6 ± 2.1; FUP_m = 84 ± 9, FUP_s = 81.9 ± 9.8. NM can simulate the effect of a VAD in complex physiopathologies, with the inclusion of changes in circulatory parameters during the acute phase and at FUP. The simulation of differently assisted physiopathologies offers a useful support for clinicians.

  4. TRANSPOSITION OF THE ACETABULUM AFTER TRIPLE PELVIC OSTEOTOMY IN THE TREATMENT OF CHILDREN WITH HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    M. M. Kamosko

    2014-01-01

    Full Text Available Purpose - effectiveness assessment of 500 acetabular transpositions after triple pelvic osteotomy in the treatment of children and adolescents with dysplastic hip joint pathology. Materials and methods. Using clinical, radiographic and computed tomography techniques we analyzed long-term results of surgical treatment of 470 patients with impaired stability of the hip of dysplastic genesis aged 4-19 y.o. who underwent 500 acetabular transpositions after triple pelvic osteotomy. Results and conclusions. The use of acetabular transposition after triple pelvic osteotomy in patients with dysplastic hip joint pathology in most cases allows to achieve regression of clinical manifestations and degenerative changes in patients with stage I and II of dysplastic coxarthrosis. Effectiveness largely depends on the initial state of the hip joint.

  5. Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

    Science.gov (United States)

    Karunanithi, Zarmiga; Vestergaard, Else Marie; Lauridsen, Mette H

    2017-12-26

    Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population. Neonatal surgery is proposed as a risk factor, but as yet unidentified genetic abnormalities should also be taken into account. Thus, congenital heart abnormalities may constitute a part of the phenotypic spectrum associated with duplications at 16p11.2. We suggest chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.

  6. Interdisciplinary approach for bilateral maxillary canine: First premolar transposition with complex problems in an adult patient

    Directory of Open Access Journals (Sweden)

    Dhivakar Selvaraj

    2013-01-01

    Full Text Available Adult patients seeking orthodontic care were increased nowadays not only on esthetic need but also on functional demand. But problems with adult patients were not only malocclusions but also dental caries, pulpal pathology, missing teeth, muco-gingival problems and loss of supporting structures. We report here a case of 35-year-old female with complete transposition referred as a positional interchange of two permanent teeth within the same quadrant of the dental arch along with gingival recession of the lower anteriors and missing molars. Gingival health was improved by free gingival graft in lower anteriors followed by fixed orthodontic procedure to correct transposition. Based on transposition crown recontouring and restoration was done along with replacement of missing molars with fixed prosthesis. Thus, proper treatment planning with interdisciplinary management improves not only the esthetics and occlusal relationship but also with stable results.

  7. Superior rectus transposition and medial rectus recession for Duane syndrome and sixth nerve palsy.

    Science.gov (United States)

    Mehendale, Reshma A; Dagi, Linda R; Wu, Carolyn; Ledoux, Danielle; Johnston, Suzanne; Hunter, David G

    2012-02-01

    To describe our results using augmented temporal superior rectus transposition (SRT) with adjustable medial rectus muscle recession (MRc) for treatment of Duane syndrome and sixth nerve palsy. Retrospective surgical case review of patients undergoing SRT. Preoperative and postoperative orthoptic measurements were recorded. Minimum follow-up was 6 weeks. Main outcome measures included the angle of esotropia in the primary position and the angle of head turn. Secondary outcomes included duction limitation, stereopsis, and new vertical deviations. The review identified 17 patients: 10 with Duane syndrome and 7 with sixth nerve palsy. Combining SRT with MRc improved esotropia from 44 to 10 prism diopters (P sixth nerve palsy and none with Duane syndrome. No patient described torsional diplopia. Superior rectus transposition allows for the option of simultaneous MRc in patients with severe abduction imitation who require transposition surgery. Combining SRT and MRc improved esotropia, head position, abduction limitation, and stereopsis without inducing torsional diplopia.

  8. Fat transposition with a single subdermal stitch for the treatment of deep tear trough.

    Science.gov (United States)

    Medel, Ramón; Hristodulopulos, Vanessa; Vásquez, LuzMaría

    2014-12-01

    To describe a fixation technique of the medial and central fat pads in the subperiosteal pocket for transconjunctival fat transposition, using a single subdermal, non-removable, non-absorbable stitch. Retrospective study of 19 patients with bilateral deep tear through treated by means of transconjunctival fat transposition. Charts and photographic records were reviewed. Photographical and clinical improvement of the deep tear through and fat prolapse was observed in all patients in variable degrees. There were no intraoperative complications. Significant periocular hematoma occurred in 1 patient and solved without complications. Two patients presented transitory fat pedicle hardening and one patient presented a conjunctival inferior fornix granuloma, surgically removed. All patients were satisfied. Transconjunctival subperiosteal fat transposition with single subdermal stitch to fix the medial and central fat pads, for the treatment of deep tear trough and fat prolapse demonstrated high patient satisfaction, good aesthetic results with no significant or permanent complications.

  9. Expression of Drosophila virilis retroelements and role of small RNAs in their intrastrain transposition.

    Directory of Open Access Journals (Sweden)

    Nikolay V Rozhkov

    Full Text Available Transposition of two retroelements (Ulysses and Penelope mobilized in the course of hybrid dysgenesis in Drosophila virilis has been investigated by in situ hybridization on polytene chromosomes in two D. virilis strains of different cytotypes routinely used to get dysgenic progeny. The analysis has been repeatedly performed over the last two decades, and has revealed transpositions of Penelope in one of the strains, while, in the other strain, the LTR-containing element Ulysses was found to be transpositionally active. The gypsy retroelement, which has been previously shown to be transpositionally inactive in D. virilis strains, was also included in the analysis. Whole mount is situ hybridization with the ovaries revealed different subcellular distribution of the transposable elements transcripts in the strains studied. Ulysses transpositions occur only in the strain where antisense piRNAs homologous to this TE are virtually absent and the ping-pong amplification loop apparently does not take place. On the other hand small RNAs homologous to Penelope found in the other strain, belong predominantly to the siRNA category (21nt, and consist of sense and antisense species observed in approximately equal proportion. The number of Penelope copies in the latter strain has significantly increased during the last decades, probably because Penelope-derived siRNAs are not maternally inherited, while the low level of Penelope-piRNAs, which are faithfully transmitted from mother to the embryo, is not sufficient to silence this element completely. Therefore, we speculate that intrastrain transposition of the three retroelements studied is controlled predominantly at the post-transcriptional level.

  10. An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

    Science.gov (United States)

    Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

    2018-05-01

    Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

  11. [Foster Modification of Full Tendon Transposition of Vertical Rectus Muscles for Sixth Nerve Palsy].

    Science.gov (United States)

    Heede, Santa

    2018-04-11

    Since 1907 a variety of muscle transposition procedures for the treatment of abducens nerve palsy has been established internationally. Full tendon transposition of the vertical rectus muscle was initially described by O'Connor 1935 and then augmented by Foster 1997 with addition of posterior fixation sutures on the vertical rectus muscle. Full tendon transposition augmented by Foster belongs to the group of the most powerful surgical techniques to improve the abduction. Purpose of this study was to evaluate the results of full tendon vertical rectus transposition augmented with lateral fixation suture for patients with abducens nerve palsy. Full tendon transpositions of vertical rectus muscles augmented with posterior fixation suture was performed in 2014 on five patients with abducens nerve palsy. Two of the patients received Botox injections in the medial rectus muscle: one of them three months after the surgery and another during the surgery. One of the patients had a combined surgery of the horizontal muscles one year before. On three of the patients, who received a pure transposition surgery, the preoperative deviation at the distance (mean: + 56.6 pd; range: + 40 to + 80 pd) was reduced by a mean of 39.6 pd (range 34 to 50 pd), the abduction was improved by a mean of 3 mm (range 2 to 4 mm). The other two patients, who received besides the transposition procedure additional surgeries of the horizontal muscles, the preoperative deviation at the distance (+ 25 and + 126 pd respectively) was reduced by 20 and 81 pd respectively. The abduction was improved by 4 and 8 mm respectively. After surgery two patients developed a vertical deviation with a maximum of 4 pd. None of the patients had complications or signs of anterior segment ischemia. The elevation and/or depression was only marginally affected. There was no diplopia in up- or downgaze. Full tendon transposition of vertical rectus muscles, augmented with lateral posterior fixation suture is

  12. Management of labour and delivery in congenitally corrected transposition of great arteries.

    Science.gov (United States)

    Dhir, S; Racine, J; Gratton, R; Bergin, L; de Vrijer, B

    2015-11-01

    A descriptive case report of the labour and delivery management of a 28-year-old woman who presented with congenitally corrected transposition of great arteries, dextrocardia, systemic ventricular dysfunction and junctional tachycardia. Patients with congenitally corrected transposition have a thin-walled morphological right ventricle as the systemic circulatory pump. The stress of increased cardiac output can lead to congestive heart failure, systemic atrioventricular valve regurgitation and arrhythmias. We used minimally invasive continuous cardiac output monitoring, fluid balance optimization and good maternal pain control to prevent decompensation and achieve vaginal delivery with a good maternal and neonatal outcome. © 2015 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  13. Letter-Transposition Effects Are Not Universal: The Impact of Transposing Letters in Hebrew

    Science.gov (United States)

    Velan, Hadas; Frost, Ram

    2009-01-01

    We examined the effects of letter-transposition in Hebrew in three masked-priming experiments. Hebrew, like English has an alphabetic orthography where sequential and contiguous letter strings represent phonemes. However, being a Semitic language it has a non-concatenated morphology that is based on root derivations. Experiment 1 showed that…

  14. Transposition of the acetabulum after iliac ischial osteotomy in the treatment of hip dysplasia in infants

    Directory of Open Access Journals (Sweden)

    Vladimir E Baskov

    2016-06-01

    Conclusion. Transposition of the acetabulum after iliac and ischial pelvic osteotomy is an effective treatment for dysplastic instability of the acetabulum in children aged 9–16 years. The procedure is indicated when it is necessary to rotate the acetabular fragment by more than 25°, and there is no need for hip medialization.

  15. Modified semitendinosus muscle transposition to repair ventral perineal hernia in 14 dogs.

    Science.gov (United States)

    Morello, E; Martano, M; Zabarino, S; Piras, L A; Nicoli, S; Bussadori, R; Buracco, P

    2015-06-01

    To describe a modified technique of semitendinosus muscle transposition for the repair of ventral perineal hernia. Retrospective review of case records of dogs with ventral perineal hernia that were treated by transposing the medial half of the longitudinally split semitendinosus muscle of one limb. The transposition of the internal obturator muscle was used when uni- or bilateral rectal sacculation was also present in addition to ventral perineal hernia; colopexy and vas deferens pexy were also performed. Fourteen dogs were included. In addition to ventral perineal hernia, unilateral and bilateral perineal hernia was also present in five and six of the dogs, respectively. The mean follow-up time was 890 days. Ventral perineal hernia was successfully managed by the modified semitendinosus muscle transposition with minor complications in all the dogs included in the study. Despite the small number of dogs included, the unilateral transposition of the medial half of the longitudinally split semitendinosus muscle consistently supported the ventral rectal enlargement in perineal hernia without obvious adverse effects. © 2015 British Small Animal Veterinary Association.

  16. [Preoperative and postoperative imaging in patients with transposition of the great arteries].

    NARCIS (Netherlands)

    Gutberlet, M.; Hoffmann, J.; Kunzel, E.; Fleischer, A.; Sarikouch, S.; Beerbaum, P.B.J.; Lehmkuhl, L.; Andres, C.; Lurz, P.; Kostelka, M.; Abdul-Khaliq, H.; Dahnert, I.; Grothoff, M.

    2011-01-01

    Transposition of the great arteries (TGA) is a rare disease representing not more than 3-5% of all congenital heart diseases. TGA is a cardiac anomaly in which the aorta arises entirely or largely from the morphological right ventricle and the pulmonary artery from the morphological left ventricle.

  17. Straight configuration saphenous vein transposition to popliteal artery for vascular access.

    Science.gov (United States)

    Caco, Gentian; Golemi, Dhurata; Likaj, Eriola

    2017-03-21

    The saphenous vein is commonly used as a vascular graft in peripheral artery surgery but rarely used for vascular access. The literature on straight configuration saphenous vein transposition to the popliteal artery is scarce. Here we present two cases of straight configuration saphenous vein transposition to the popliteal artery for vascular access, the surgical technique and respective follow-up. Two young men, aged 29 and 36 years, were chosen for lower-limb vascular access for hemodialysis. The first patient was paraplegic since birth. He used his arms to move so upper extremity vascular access was avoided. The second patient presented with an infected upper extremity arteriovenous graft (AVG) and after multiple closed AVFs he had no more available arm veins. Both patients received autologous lower extremity straight configuration saphenous vein transpositions to the popliteal artery under spinal anesthesia in May and October 2012, respectively. Cannulation of the fistula was allowed after one month. There were no early complications. Slight swelling on the leg appeared in one of the patients. Both fistulas were still functional after 36 and 32 months, respectively. The straight configuration saphenous vein transposition to popliteal artery is simple to perform, offers a long and straight segment for cannulation and may be a suitable autologous vascular access in selected patients.

  18. Volumetric Analysis of Nasopharyngectomy via Endoscopic Endonasal, Maxillary Transposition, and Lateral Temporal-Subtemporal Approaches.

    Science.gov (United States)

    Kapucu, Burak; Gun, Ramazan; Kirsch, Claudia; Meeks, Darlene; Otto, Bradley A; Prevedello, Daniel M; Carrau, Ricardo

    2015-10-01

    This project develops a computer model that allows volumetric analysis of the exposure afforded by an endonasal-endoscopic approach, maxillary transposition, and lateral temporal-subtemporal approaches during a nasopharyngectomy. The model will demonstrate idiosyncracies of these approaches, including sacrifice of normal tissues, ease of instrumentation, and gate of entry. Computed tomographic scans of an anatomic specimen were used to create computer simulations of the endoscopic endonasal, maxillary transposition, and lateral temporal-subtemporal approaches for T1and T4 nasopharyngeal carcinoma; therefore, allowing assessment of their surgical corridor using Intuition, a software that allows a semiautomated computerized segmented volumetric analysis. The smallest volumes of tissue mobilization or removal were observed during the endoscopic-endonasal nasopharyngectomy. The volumes of tissue mobilization for the maxillary transposition approach were higher than those of lateral temporal-subtemporal approaches. This model adds to our understanding of select surgical corridors to the nasopharynx. It suggests that an endoscopic-endonasal approach requires less manipulation or resection of smaller volumes of normal tissue to expose a nasopharyngeal tumor than the lateral temporal-subtemporal and maxillary transposition approaches. It also, however, requires instrumentation through a smaller entry gate implying greater difficulty. Nonetheless, these factors should not be construed as superiority of one approach over the other. Factors that are important in the choosing of the surgical approach, such as surgeon's training and experience, invasion of neurovascular structures and method of reconstruction are not considered in this model.

  19. Transposition of the rectus abdominis muscle for complicated pouch and rectal fistulas

    NARCIS (Netherlands)

    Tran, KTC; Kuijpers, HC; van Nieuwenhoven, EJ; van Goor, Harry; Spauwen, PH

    PURPOSE: Operative repair for complicated pouch and rectal fistulas is often difficult. We present our experience with ten consecutive patients operated on for complicated pouch and rectal fistulas by transposition of the rectus abdominis muscle. METHODS: Ten patients with high and complex pouch and

  20. Effect of balloon atrial septostomy on cerebral oxygenation in neonates with transposition of the great arteries

    NARCIS (Netherlands)

    van der Laan, Michelle E.; Verhagen, Elise A.; Bos, Arend F.; Berger, Rolf M. F.; Kooi, Elisabeth M. W.

    BACKGROUND: The aim of this study was to determine the effect of balloon atrial septostomy (BAS) on cerebral oxygenation in neonates with transposition of the great arteries (TGA). METHODS: In term neonates with TGA, regional cerebral tissue oxygen saturation (r(c)SO(2)) was measured using,

  1. An unreported type of coronary artery naomaly in congenitally corrected transposition of great arteries

    Energy Technology Data Exchange (ETDEWEB)

    Kwak, Min Kyu; Jeong, Yeon Joo; Lee, Gee Won; Lee, Nam Kyung; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)

    2016-07-15

    Coronary artery variations are associated anomalies in 45% of congenitally corrected transposition of the great arteries (ccTGA) cases, and it is important to detect any coronary artery anomalies before cardiac surgery. We report a case of a 51-year-old woman with ccTGA and an unreported type of coronary artery anomaly.

  2. Persistent pulmonary hypertension of the newborn with transposition of the great arteries

    NARCIS (Netherlands)

    Roofthooft, Marcus T. R.; Bergman, Klasina A.; Ebels, Tjark; Bartelds, Beatrijs; Berger, Rolf M. F.; Waterbolk, T

    Background. Persistent pulmonary hypertension of the newborn (PPHN) in patients with transposition of the great arteries (TGA) is reported to be a high-risk and often therapy-resistant condition, associated with a high mortality. However, data on its incidence and prognosis are scarce and originate

  3. Active Pedicle Epithelial Flap Transposition Combined with Amniotic Membrane Transplantation for Treatment of Nonhealing Corneal Ulcers

    OpenAIRE

    Zhang, Ting; Wang, Yuexin; Jia, Yanni; Liu, Dongle; Li, Suxia; Shi, Weiyun; Gao, Hua

    2016-01-01

    Introduction. The objective was to evaluate the efficacy of active pedicle epithelial flap transposition combined with amniotic membrane transplantation (AMT) in treating nonhealing corneal ulcers. Material and Methods. Eleven patients (11 eyes) with nonhealing corneal ulcer who underwent the combined surgery were included. Postoperatively, ulcer healing time was detected by corneal fluorescein staining. Visual acuity, intraocular pressure, surgical complications, and recurrence were recorded...

  4. Misfits and compliance patterns in the transposition and implementation of the Habitats Directive—four cases

    NARCIS (Netherlands)

    Frederiksen, Pia; Sluis, van der Theo; Vadineanu, Angheluta; Terkenli, Theano S.; Gaube, Veronika; Gravsholt Busck, Anne; Vesterager, Jens Peter; Geamana, Nicoleta; Schistou, Despoina E.; Pedroli, Bas

    2017-01-01

    This paper investigates the transposition and implementation of the Habitats Directive in four European member states, namely Denmark, the Netherlands, Greece, and Romania, and the role that institutional misfits have played in more or less successful implementation processes. Departing in the

  5. Characteristics and outcomes of transposition of great arteries in the neonatal period.

    Science.gov (United States)

    Turon-Viñas, Anna; Riverola-de Veciana, Ana; Moreno-Hernando, Julio; Bartrons-Casas, Joaquim; Prada-Martínez, Fredy H; Mayol-Gómez, Javier; Caffarena-Calvar, José M

    2014-02-01

    Transposition of the great arteries is a prevalent congenital heart defect with a high survival rate and a good long-term outcome, especially if managed with early surgical intervention during the neonatal period. In this study, our main objective was to describe patient characteristics and outcomes and to identify possible predictors of early and long-term morbidity and mortality. Retrospective analysis through review of clinical and surgical charts of patients with transposition of the great arteries admitted to the service of neonatology during 2000-2011. The study included 136 patients; 119 of them had undergone corrective surgery during the neonatal period. Patients were divided into 3 groups: group I, 81 cases of isolated transposition; group II, 24 cases with ventricular septal defect; and group III, 31 with "complex" transposition of the great arteries. The overall postoperative survival was 96.7% (115 of 119 patients); no patients from group I died after surgery. Duration of surgery, intubation, inotropic treatment, and length of stay were higher in patients in groups II and III. The overall survival rate after an average of 6 years of follow-up was 90.4% 123 of 136 patients, with no deaths after discharge in group I. The most frequent residual defect during cardiac follow-up was supravalvular pulmonary stenosis, in 33 of 113 patients that had follow-up data. In our study, the survival rate was high in patients with transposition of great arteries and especially in those undergoing arterial switch. The number of subsequent residual heart defects was low. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  6. Germline transgenic pigs by Sleeping Beauty transposition in porcine zygotes and targeted integration in the pig genome.

    Directory of Open Access Journals (Sweden)

    Wiebke Garrels

    Full Text Available Genetic engineering can expand the utility of pigs for modeling human diseases, and for developing advanced therapeutic approaches. However, the inefficient production of transgenic pigs represents a technological bottleneck. Here, we assessed the hyperactive Sleeping Beauty (SB100X transposon system for enzyme-catalyzed transgene integration into the embryonic porcine genome. The components of the transposon vector system were microinjected as circular plasmids into the cytoplasm of porcine zygotes, resulting in high frequencies of transgenic fetuses and piglets. The transgenic animals showed normal development and persistent reporter gene expression for >12 months. Molecular hallmarks of transposition were confirmed by analysis of 25 genomic insertion sites. We demonstrate germ-line transmission, segregation of individual transposons, and continued, copy number-dependent transgene expression in F1-offspring. In addition, we demonstrate target-selected gene insertion into transposon-tagged genomic loci by Cre-loxP-based cassette exchange in somatic cells followed by nuclear transfer. Transposase-catalyzed transgenesis in a large mammalian species expands the arsenal of transgenic technologies for use in domestic animals and will facilitate the development of large animal models for human diseases.

  7. Transpositions Within User-Posted YouTube Lyric Videos: A Corpus Study

    Directory of Open Access Journals (Sweden)

    Joseph Plazak

    2016-07-01

    Full Text Available There are many practical reasons why experiences of a given musical work tend to be heard repeatedly at the same pitch transposition level, especially recordings of musical works. Yet here, a corpus study is presented that challenges this very basic assumption of music perception. In 2011, an initial corpus of 100 user-posted YouTube videos was collected in order to investigate the prevalence of transposition and tempo alterations within these videos. Results found 42% of these videos contained nominal changes of pitch (36% and/or tempo (22%. Using the same methodology, a follow-up study was performed in 2015 and found only that 24% of user-posted videos contained these same alterations. Implications for these observations are discussed in light of musical communication models, YouTubeology, and absolute pitch memory.

  8. Lateral femoral cutaneous nerve transposition: Renaissance of an old concept in the light of new anatomy.

    Science.gov (United States)

    Hanna, Amgad S

    2017-04-01

    Meralgia paresthetica causes pain in the anterolateral thigh. Most surgical procedures involve nerve transection or decompression. We conducted a cadaveric study to determine the feasibility of lateral femoral cutaneous nerve (LFCN) transposition. In three cadavers, the LFCN was exposed in the thigh and retroperitoneum. The two layers of the LFCN canal superficial and deep to the nerve were opened. The nerve was then mobilized medially away from the ASIS, by cutting the septum medial to sartorius. It was possible to mobilize the nerve for 2 cm medial to the ASIS. The nerve acquired a much straighter course with less tension. A new technique of LFCN transposition is presented here as an anatomical feasibility study. The surgical technique is based on the new understanding of the LFCN canal. Clin. Anat. 30:409-412, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  9. New insights into the transposition mechanisms of IS6110 and its dynamic distribution between Mycobacterium tuberculosis Complex lineages.

    Science.gov (United States)

    Gonzalo-Asensio, Jesús; Pérez, Irene; Aguiló, Nacho; Uranga, Santiago; Picó, Ana; Lampreave, Carlos; Cebollada, Alberto; Otal, Isabel; Samper, Sofía; Martín, Carlos

    2018-04-01

    The insertion Sequence IS6110, only present in the pathogens of the Mycobacterium tuberculosis Complex (MTBC), has been the gold-standard epidemiological marker for TB for more than 25 years, but biological implications of IS6110 transposition during MTBC adaptation to humans remain elusive. By studying 2,236 clinical isolates typed by IS6110-RFLP and covering the MTBC, we remarked a lineage-specific content of IS6110 being higher in modern globally distributed strains. Once observed the IS6110 distribution in the MTBC, we selected representative isolates and found a correlation between the normalized expression of IS6110 and its abundance in MTBC chromosomes. We also studied the molecular regulation of IS6110 transposition and we found a synergistic action of two post-transcriptional mechanisms: a -1 ribosomal frameshift and a RNA pseudoknot which interferes translation. The construction of a transcriptionally active transposase resulted in 20-fold increase of the transposition frequency. Finally, we examined transposition in M. bovis and M. tuberculosis during laboratory starvation and in a mouse infection model of TB. Our results shown a higher transposition in M. tuberculosis, that preferably happens during TB infection in mice and after one year of laboratory culture, suggesting that IS6110 transposition is dynamically adapted to the host and to adverse growth conditions.

  10. Transposition of the acetabulum after iliac ischial osteotomy in the treatment of hip dysplasia in infants

    OpenAIRE

    Vladimir E Baskov; Mikhail M Kamosko; Dmitry B Barsukov; Ivan Yu Pozdnikin; Vadim V Kozhevnikov; Igor V Grigoriev; Pavel I Bortulev

    2016-01-01

    Background. Transposition of the acetabulum after pelvic osteotomy is the most effective surgical method to treat dysplastic hip joint disorders in patients of different ages. According to Salter, iliac osteotomy of the pelvis is the main surgical method used to correct dysplastic acetabulum in 7- and 8-year-old children. In older patients, the pubic symphysis and pelvic ligaments become more rigid, which significantly limits the degree of rotation of the acetabulum. In these cases, a triple ...

  11. A clinical case of corrected transposition of the great vessels

    Directory of Open Access Journals (Sweden)

    T. B. Kasokhov

    2017-01-01

    Full Text Available Corrected transposition of the great arteries is a congenital heart defect that is rarely encountered in medical practice. The problem of diagnosing this abnormality of the cardiovascular system is due to the absence of hemodynamic disorders and clinical manifestations for a long time. The paper describes a clinical case of a complex heart defect occurring virtually asymptomatically. Echocardiography that allows timely diagnosis and adequate treatment plays a crucial role.

  12. Didactic transposition: an example in the educative system in Costa Rica

    Directory of Open Access Journals (Sweden)

    Cristian Alfaro Carvajal

    2016-03-01

    Full Text Available This paper includes some fundamental ideas about the theory of didactic transposition of Yve Chevallard (1980, from which it is made an analysis of the knowledge transformation suffers from the mathematical level to the scholastic level. To demonstrate this transformation, it is analyzed the theme of integers, which is included in the seventh- grade curriculum of the educational system of Costa Rica.

  13. Intraoperative monitoring of torsion to prevent vertical deviations during augmented vertical rectus transposition surgery.

    Science.gov (United States)

    Holmes, Jonathan M; Hatt, Sarah R; Leske, David A

    2012-04-01

    Total transposition of the superior and inferior rectus muscle laterally, with augmentation sutures, may be complicated by induction of an undesirable vertical deviation. Induced vertical misalignment may be associated with changes in torsion. We have developed a simple method to monitor intraoperative torsion that may reduce the incidence of vertical deviations. We reviewed consecutive cases of total abducens palsy or esotropic Duane syndrome treated with augmented lateral transposition of the superior and inferior rectus muscles, where the 12 o'clock and 6 o'clock intraoperative positions were initially marked with a dot at the limbus using a surgical pen. The location of the marks was monitored during tying of the augmentation sutures; changes in torsion were monitored intraoperatively. Records of 9 cases of augmented vertical rectus transposition were reviewed. On the basis of intraoperative assessment of torsion, by observing the position of preplaced limbal dots, the inferior rectus augmentation suture was tied less tightly than the superior rectus suture, leaving a gap of 1 to 3 mm between the inferior and lateral rectus muscles in 8 of 9 cases. The augmentation suture was totally removed in 1 case. After these intraoperative adjustments, there was no induced intraoperative torsion, whereas further tightening of the inferior suture induced extorsion. Six weeks postoperatively, 8 of 9 patients did not experience a symptomatic vertical deviation. When performing augmented transposition procedures, intraoperative monitoring of torsion may reduce the incidence of inadvertent vertical deviations and torsion. This technique may also be useful in other cases where correction or avoidance of torsion is needed. Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  14. Assessing Tn5 and Sleeping Beauty for transpositional transgenesis by cytoplasmic injection into bovine and ovine zygotes

    Science.gov (United States)

    Bevacqua, R. J.; Fernandez-Martin, R.; Canel, N. G.; Gibbons, A.; Texeira, D.; Lange, F.; Vans Landschoot, G.; Savy, V.; Briski, O.; Hiriart, M. I.; Grueso, E.; Ivics, Z.; Taboga, O.; Kues, W. A.; Ferraris, S.

    2017-01-01

    Transgenic domestic animals represent an alternative to bioreactors for large-scale production of biopharmaceuticals and could also provide more accurate biomedical models than rodents. However, their generation remains inefficient. Recently, DNA transposons allowed improved transgenesis efficiencies in mice and pigs. In this work, Tn5 and Sleeping Beauty (SB) transposon systems were evaluated for transgenesis by simple cytoplasmic injection in livestock zygotes. In the case of Tn5, the transposome complex of transposon nucleic acid and Tn5 protein was injected. In the case of SB, the supercoiled plasmids encoding a transposon and the SB transposase were co-injected. In vitro produced bovine zygotes were used to establish the cytoplasmic injection conditions. The in vitro cultured blastocysts were evaluated for reporter gene expression and genotyped. Subsequently, both transposon systems were injected in seasonally available ovine zygotes, employing transposons carrying the recombinant human factor IX driven by the beta-lactoglobulin promoter. The Tn5 approach did not result in transgenic lambs. In contrast, the Sleeping Beauty injection resulted in 2 lambs (29%) carrying the transgene. Both animals exhibited cellular mosaicism of the transgene. The extraembryonic tissues (placenta or umbilical cord) of three additional animals were also transgenic. These results show that transpositional transgenesis by cytoplasmic injection of SB transposon components can be applied for the production of transgenic lambs of pharmaceutical interest. PMID:28301581

  15. Treatment of peroneal paralysis with transposition of vastus lateralis muscle in calves.

    Science.gov (United States)

    Kilic, E; Yayla, S; Aksoy, O; Ozaydin, I; Ermutlu, C Ş

    2014-07-19

    This study aimed to clinically evaluate the results achieved by using tendon transposition to treat postinjection peroneal paralysis in calves. The study material consisted of 23 calves in all of which the clinical history indicated the problem had occurred within 1-3 days of intramuscular injection. Each patient was administered medical treatment for three weeks. After that, a decision was made to perform tendon transposition in all the subjects because their prognosis was estimated to be poor. The owners of five of the calves did not agree to the operation, and so, medical treatment was continued. Following intrathecal anaesthesia, the vastus lateralis muscle was dissected at the insertion, and the musculus (m) extensor (ext) digitalis (dig) longus and m fibularis tertius were dissected at the origin in 18 calves. The tendon ends were joined by using the locking loop suture technique in the 18 calves. Follow-up after two to three months revealed hind limb use in all surgically treated calves, while the medically treated calves had to be slaughtered because of lameness and decubitus. The results of the present study suggest that the peroneal paralysis of calves can be successfully treated by a tendon transposition technique. British Veterinary Association.

  16. Reactions of carbon radicals generated by 1,5-transposition of reactive centers

    Directory of Open Access Journals (Sweden)

    ZIVORAD CEKOVIC

    2005-03-01

    Full Text Available Radical intermediates can undergo specific reactions, such as intramolecular rearrangements, i.e., the transpositions of radical centers, which are not known in classical ionic organic reactions. 1,5-Transposition of a radical center to a non-activated carbon atom are of great synthetic importance. It can be successfully applied for the introduction of different functional groups (oxygen, nitrogen, sulfur, halogens onto a carbon atom remote from the present functional group. In addition to functionalization of a remote non-activated carbon atom, the formation of new C-C bonds on the d-carbon atom have also been achieved. 1,5-Transposition of the radical centers takes place from alkoxyl, aminyl and carbon radicals to a remote carbon atom. Relocation of the radical centers preferentially involves 1,5-transfer of a hydrogen atom, although migrations of some other groups are known. The reactions of the carbon radical generated by 1,5-relocation of the radical center are presented and their synthetic applications are reviewed.

  17. [Study of satisfaction concerning the navel after abdominal dermolipectomy with transposition: A report of 96 cases].

    Science.gov (United States)

    Merle, R; Serror, K; Marco, O; Chaouat, M; Teissier, S; Mimoun, M; Boccara, D

    2017-10-30

    The umbilicus has a major role in the aesthetics of the anterior abdominal wall. Many publications deal with abdominal dermolipectomies but few focus on umbilicoplasty. However, these are essential in assessing the aesthetic result. Umbilicoplasty in "aile de mouette" used in our service is reliable and easily reproducible. In this article, we evaluate the satisfaction of patients with abdominal dermolipectomy with this technique of transposition. In the plastic surgery department of the Saint-Louis Hospital in Paris, we carried out a retrospective study of patients undergoing abdominal dermolipectomy with transposition of the umbilicus, between 1 January 2012 and 31 December 2012. All patients were operated according to our technique of umbilicoplasty: disinsertion of the umbilicus in V, reinsertion of the umbilic in "aile de mouette", a degreasing periumbilical associated with a plication of the umbilical stem. The complications identified in patients medical records and satisfaction were assessed by a telephone questionnaire. Ninety-six patients were included. No patient presented umbilical necrosis. The overall result of umbilical transposition was considered good to excellent for 92.7% of patients. Umbilicoplasty in gull wing has many advantages: it is a simple, easily reproducible, reliable technique, the patients of which are for the most part very satisfied. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. Early treatment of an ectopic premolar to prevent molar-premolar transposition.

    Science.gov (United States)

    Cannavale, Rosangela; Matarese, Giovanni; Isola, Gaetano; Grassia, Vincenzo; Perillo, Letizia

    2013-04-01

    Orthodontic treatment is planned on an individual, case-by-case basis after thoroughly considering the patient's overall facial and dental characteristics, the expected duration of treatment, costs, patient preferences, and the orthodontist's experience. This article reports the treatment of a patient with a maxillary premolar-molar transposition in the permanent dentition that was successfully managed with orthodontic treatment. A girl, aged 10 years 2 months, came for treatment with an ectopic maxillary left premolar. Radiographic analysis indicated a developing complete transposition of the maxillary left premolar. The patient was treated with extraction of the deciduous molar and surgical exposure and ligation of the premolar. Eruption was properly guided, and the correct order of the 2 teeth was restored in the arch. This challenging treatment approach is described in detail, including the mechanics used to align the ectopic premolar. Early treatment can, in many cases, prevent a molar-premolar transposition. Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  19. Transposition of lingual thyroid gland to the submandibular region by transoral approach.

    Science.gov (United States)

    Akbay, Ercan; Simsek, Gokce; Kilic, Rahmi

    2017-06-01

    The purpose of this case report is to demonstrate surgical technique of only functional but symptomatic lingual thyroid gland transposition to submandibular region by transoral approach without mandibulotomy and tongue-splitting. A 37-year-old female patient was admitted to our hospital with dysphagia and apnea symptoms. Physical examination revealed 3cm×3cm lingual thyroid gland was detected at the tongue base. The patient was euthyroid and thyroid gland was not detected in the neck. Under general anesthesia, right submandibular gland excision and transposition of lingual thyroid tissue to submandibular region with dorsal lingual artery axis flap were performed by transoral approach. Thyroid hormones remained normal in the postoperative period. In conclusion transoral transposition of lingual thyroid to submandibular region as a flap without mandibulotomy is a minimally invasive and function preserving alternative approach. Besides preserving thyroid functions, this transoral surgical technique can be preferred by patients who avoid skin incision for esthetic concerns. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  20. Internal obturator muscle transposition for treatment of perineal hernia in dogs: 34 cases (1998-2012).

    Science.gov (United States)

    Shaughnessy, Magen; Monnet, Eric

    2015-02-01

    To evaluate the outcome of dogs with perineal hernia treated with transposition of the internal obturator muscle. Retrospective case series. 34 dogs. Medical records of dogs with perineal hernia surgically treated from 1998 to 2012 were reviewed. Diagnostic methods and surgical techniques were recorded. Dogs were assigned preoperative and postoperative clinical sign scores. Complication and recurrence rates were evaluated over time. Risk factors were determined. Median follow-up time was 345 days (range, 22 to 1,423 days). Complications were observed in 10 dogs. Tenesmus (n = 9), dyschezia (7), fecal impaction (3), stranguria (4), hematochezia (2), urinary incontinence (2), diarrhea (1), urinary tract infection (1), and megacolon (1) occurred following surgery. Bladder retroflexion at the time of initial evaluation or surgery was not a risk factor for complication (hazard ratio, 1.72). One year after surgery, 51.2% dogs were free of complications. Three dogs developed a perineal hernia on the contralateral side between 35 and 95 days after surgery. The 1-year recurrence rate was 27.4%. Median time for recurrence was 28 days after surgery (range, 2 to 364 days). Postoperative tenesmus was a risk factor for the development of recurrence (hazard ratio, 2.29). Internal obturator muscle transposition was used for primary repair of perineal hernia in dogs. Recurrence was recorded as long as 1 year after surgery. Tenesmus was a risk factor for the development of recurrence after treatment of perineal hernia with internal obturator muscle transposition.

  1. Anterior subcutaneous transposition of the ulnar nerve improves neurological function in patients with cubital tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Wei Huang

    2015-01-01

    Full Text Available Although several surgical procedures exist for treating cubital tunnel syndrome, the best surgical option remains controversial. To evaluate the efficacy of anterior subcutaneous transposition of the ulnar nerve in patients with moderate to severe cubital tunnel syndrome and to analyze prognostic factors, we retrospectively reviewed 62 patients (65 elbows diagnosed with cubital tunnel syndrome who underwent anterior subcutaneous transposition. Preoperatively, the initial severity of the disease was evaluated using the McGowan scale as modified by Goldberg: 18 patients (28% had grade IIA neuropathy, 20 (31% had grade IIB, and 27 (42% had grade III. Postoperatively, according to the Wilson & Krout criteria, treatment outcomes were excellent in 38 patients (58%, good in 16 (25%, fair in 7 (11%, and poor in 4 (6%, with an excellent and good rate of 83%. A negative correlation was found between the preoperative McGowan grade and the postoperative Wilson & Krout score. The patients having fair and poor treatment outcomes had more advanced age, lower nerve conduction velocity, and lower action potential amplitude compared with those having excellent and good treatment outcomes. These results suggest that anterior subcutaneous transposition of the ulnar nerve is effective and safe for the treatment of moderate to severe cubital tunnel syndrome, and initial severity, advancing age, and electrophysiological parameters can affect treatment outcome.

  2. Nonsurgical endodontic retreatment of fused teeth with transposition: a case report.

    Science.gov (United States)

    Cardoso, Miguel Agostinho Beco Pinto; Noites, Rita Brandão; Martins, Miguel André Duarte; Paulo, Manuel Pedro da Fonseca

    2016-05-01

    Tooth transposition is a disorder in which a permanent tooth develops and erupts in the normal position of another permanent tooth. Fusion and gemination are developmental disturbances presenting as the union of teeth. This article reports the nonsurgical retreatment of a very rare case of fused teeth with transposition. A patient was referred for endodontic treatment of her maxillary left first molar in the position of the first premolar, which was adjacent to it on the distobuccal side. Orthopantomography and periapical radiography showed two crowns sharing the same root, with a root canal treatment and an associated periapical lesion. Tooth fusion with transposition of a maxillary molar and a premolar was diagnosed. Nonsurgical endodontic retreatment was performed. At four yr follow-up, the tooth was asymptomatic and the radiolucency around the apical region had decreased, showing the success of our intervention. The diagnosis and treatment of fused teeth require special attention. The canal system should be carefully explored to obtain a full understanding of the anatomy, allowing it to be fully cleaned and obturated. Thermoplastic techniques were useful in obtaining hermetic obturation. A correct anatomical evaluation improves the set of treatment options under consideration, leading to a higher likelihood of esthetically and functionally successful treatment.

  3. Nonsurgical endodontic retreatment of fused teeth with transposition: a case report

    Directory of Open Access Journals (Sweden)

    Miguel Agostinho Beco Pinto Cardoso

    2016-05-01

    Full Text Available Tooth transposition is a disorder in which a permanent tooth develops and erupts in the normal position of another permanent tooth. Fusion and gemination are developmental disturbances presenting as the union of teeth. This article reports the nonsurgical retreatment of a very rare case of fused teeth with transposition. A patient was referred for endodontic treatment of her maxillary left first molar in the position of the first premolar, which was adjacent to it on the distobuccal side. Orthopantomography and periapical radiography showed two crowns sharing the same root, with a root canal treatment and an associated periapical lesion. Tooth fusion with transposition of a maxillary molar and a premolar was diagnosed. Nonsurgical endodontic retreatment was performed. At four yr follow-up, the tooth was asymptomatic and the radiolucency around the apical region had decreased, showing the success of our intervention. The diagnosis and treatment of fused teeth require special attention. The canal system should be carefully explored to obtain a full understanding of the anatomy, allowing it to be fully cleaned and obturated. Thermoplastic techniques were useful in obtaining hermetic obturation. A correct anatomical evaluation improves the set of treatment options under consideration, leading to a higher likelihood of esthetically and functionally successful treatment.

  4. Superior rectus transposition combined with medial rectus recession for Duane syndrome and sixth nerve palsy

    Science.gov (United States)

    Mehendale, Reshma A.; Dagi, Linda R.; Wu, Carolyn; Ledoux, Danielle; Johnston, Suzanne; Hunter, David G.

    2013-01-01

    Objective Vertical rectus transposition (VRT) is used to treat abduction limitation, but new vertical deviations and anterior segment ischemia are concerns. Johnston and Crouch described superior rectus transposition (SRT), a procedure in which only the superior rectus muscle is transposed temporally. We describe our results using augmented temporal SRT with adjustable medial rectus muscle recession (MRc) for treatment of Duane syndrome I (DS) and sixth nerve palsy. Methods Retrospective surgical case review of patients undergoing the SRT procedure. Pre- and post-operative orthoptic measurements were recorded. Minimum follow-up was 6 weeks. Main outcome measures included angle of esotropia in primary position and the angle of head turn. Secondary outcomes included duction limitation, stereopsis, and new vertical deviations. Results The review identified seventeen patients (10 with DS and 7 with sixth nerve palsy). SRT+MRc improved esotropia [from 44 PD to 10.1 PD (psixth nerve palsy and 0/10 DS patients. No patient described torsional diplopia. Conclusions SRT allows for the option of simultaneous medial rectus recession in patients with severe abduction imitation who require transposition surgery. SRT+MRc improved esotropia, head position, abduction limitation, and stereopsis without inducing torsional diplopia. PMID:22332212

  5. Effect of brushwood transposition on the leaf litter arthropod fauna in a cerrado area

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    Paula Cristina Benetton Vergílio

    2013-10-01

    Full Text Available The results of ecological restoration techniques can be monitored through biological indicators of soil quality such as the leaf litter arthropod fauna. This study aimed to determine the immediate effect of brushwood transposition transferred from an area of native vegetation to a disturbed area, on the leaf litter arthropod fauna in a degraded cerrado area. The arthropod fauna of four areas was compared: a degraded area with signal grass, two experimental brushwood transposition areas, with and without castor oil plants, and an area of native cerrado. In total, 7,660 individuals belonging to 23 taxa were sampled. Acari and Collembola were the most abundant taxa in all studied areas, followed by Coleoptera, Diptera, Hemiptera, Hymenoptera, and Symphyla. The brushwood transposition area without castor oil plants had the lowest abundance and dominance and the highest diversity of all areas, providing evidence of changes in the soil community. Conversely, the results showed that the presence of castor oil plants hampered early succession, negatively affecting ecological restoration in this area.

  6. Anterior and nasal transposition of inferior oblique muscle in cases of superior oblique palsy.

    Science.gov (United States)

    Saxena, Rohit; Sharma, Medha; Singh, Digvijay; Sharma, Pradeep

    2017-08-01

    To report long-term outcome of inferior oblique anterior and nasal transposition in superior oblique palsy. The medical records of patients with superior oblique palsy who underwent inferior oblique anterior nasal transposition were reviewed retrospectively. A comprehensive ophthalmic evaluation, including prism bar cover test and measurement of torsion, was performed for all cases. One-year postoperative results were evaluated for alignment in primary gaze, contralateral gaze, and upgaze; reduction in inferior oblique overaction and changes in fundus torsion to assess long-term outcome of the procedure. A total of 12 patients were included. Three cases also underwent horizontal muscle surgery. Mean age at the time of surgery was 20.6 years. The median preoperative hypertropia was 21.5 Δ (range, 12 Δ -36 Δ ), corrected to 4.5 Δ (range, 2 Δ -10 Δ ) at 12 months postoperatively (P = 0.002). Median inferior oblique overaction decreased from +3 (range, +1 to +4) to 0 (range, -1 to +1). Preoperative fundus extorsion was 19.2° ± 6.7°; postoperative, 0.58° ± 1.8° (P Extorsion was eliminated and head tilt improved in all patients. Inferior oblique anterior and nasal transposition resulted in good long-term outcomes in our patients with superior oblique palsy presenting with hypertropia, inferior oblique overaction, and extorsion in primary gaze. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  7. Lateral rectus recession with/without transposition in V-pattern exotropia without inferior oblique overaction.

    Science.gov (United States)

    Awadein, Ahmed

    2013-12-01

    To compare bilateral lateral rectus (BLR) recession with BLR recession combined with half-tendon upward transposition in the management of patients with V-pattern exotropia (XT; 15-20 prism diopters [PD] greater XT in upgaze than downgaze) with no or minimal inferior oblique overaction. Retrospective, observational, cohort study. Twenty-nine patients had BLR recession (Group A). Twenty-one patients had BLR recession combined with half-tendon upward transposition (Group B). A retrospective study was performed on patients with V-pattern XT with no or minimal inferior oblique overaction. Ductions, versions, pattern strabismus, stereoacuity, and degree of fundus torsion were analyzed in all patients before and after surgery. Patients were included in the study only if they achieved a minimum follow-up of 6 months. Normalization of V pattern (extorsion occurred in 8 patients (44%) in Group B. Orthophoria within 8Δ in the primary position was achieved in 79% in Group A and 82% in Group B (p = 1.00). There was no statistically significant difference in the postoperative stereoacuity in both groups (p = 0.67). BLR with half-tendon upward transposition is much more effective than BLR recession alone in correcting V pattern. Copyright © 2013 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  8. Superior Oblique Anterior Transposition with Horizontal Recti Recession-Resection for Total Third-Nerve Palsy

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    Muhsin Eraslan

    2015-01-01

    Full Text Available Aims. To report the results of lateral rectus muscle recession, medial rectus muscle resection, and superior oblique muscle transposition in the restoration and maintenance of ocular alignment in primary position for patients with total third-nerve palsy. Methods. The medical records of patients who underwent surgery between March 2007 and September 2011 for total third-nerve palsy were reviewed. All patients underwent a preoperative assessment, including a detailed ophthalmologic examination. Results. A total of 6 patients (age range, 14–45 years were included. The median preoperative horizontal deviation was 67.5 Prism Diopter (PD (interquartile range [IQR] 57.5–70 and vertical deviation was 13.5 PD (IQR 10–20. The median postoperative horizontal residual exodeviation was 8.0 PD (IQR 1–16, and the vertical deviation was 0 PD (IQR 0–4. The median correction of hypotropia following superior oblique transposition was 13.5 ± 2.9 PD (range, 10–16. All cases were vertically aligned within 5 PD. Four of the six cases were aligned within 10 PD of the horizontal deviation. Adduction and head posture were improved in all patients. All patients gained new area of binocular single vision in the primary position after the operation. Conclusion. Lateral rectus recession, medial rectus resection, and superior oblique transposition may be used to achieve satisfactory cosmetic and functional results in total third-nerve palsy.

  9. Minimally invasive basilic vein transposition in the arm or forearm for autogenous haemodialysis access: A less morbid alternative to the conventional technique

    Directory of Open Access Journals (Sweden)

    Ankush Jairath

    2017-06-01

    Conclusion: Minimally invasive dissection of the basilic vein for vascular access transposition is a safe, reliable procedure with patency and functional outcomes comparable with those of conventional BVT.

  10. A Theoretical and Experimental Comparison of One Time Pad Cryptography using Key and Plaintext Insertion and Transposition (KPIT and Key Coloumnar Transposition (KCT Method

    Directory of Open Access Journals (Sweden)

    Pryo Utomo

    2017-06-01

    Full Text Available One Time Pad (OTP is a cryptographic algorithm that is quite easy to be implemented. This algorithm works by converting plaintext and key into decimal then converting into binary number and calculating Exclusive-OR logic. In this paper, the authors try to make the comparison of OTP cryptography using KPI and KCT so that the ciphertext will be generated more difficult to be known. In the Key and Plaintext Insertion (KPI Method, we modify the OTP algorithm by adding the key insertion in the plaintext that has been splitted. Meanwhile in the Key Coloumnar Transposition (KCT Method, we modify the OTP algorithm by dividing the key into some parts in matrix of rows and coloumns. Implementation of the algorithms using PHP programming language.

  11. Comparison of systemic right ventricular function in transposition of the great arteries after atrial switch and congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Morcos, Michael; Kilner, Philip J; Sahn, David J; Litt, Harold I; Valsangiacomo-Buechel, Emanuela R; Sheehan, Florence H

    2017-12-01

    In patients with transposition of the great arteries corrected by interatrial baffle (TGA) and those with congenitally corrected transposition of the great arteries (ccTGA) the right ventricle (RV) is subjected to systemic pressure and fails prematurely. Previous studies have demonstrated RV dysfunction may be more pronounced in patients with TGA. The present study sought to compare patients with TGA and ccTGA using three-dimensional (3D) techniques to comprehensively analyze the shape, volume, global and regional function in the systemic RV. We compared RV size, shape, and regional and global function in 25 patients with TGA, 17 patients with ccTGA, and 9 normal subjects. The RVs were reconstructed from cardiac Magnetic Resonance Images for 3D analyses. Compared to normal, the RV in TGA and ccTGA was dilated, rounded, and reduced in function. Compared to each other, TGA and ccTGA patients had similar RV size and shape. Global RV function was lower in TGA than ccTGA when assessed from ejection fraction (EF) (30 ± 7 vs. 35 ± 7, p = 0.02) and from normalized tricuspid annular systolic plane excursion (TAPSE) (0.10 ± 0.04 vs. 0.18 ± 0.04, p < 0.01). Basilar RV function was poorer in the TGA patients when compared to ccTGA. The systemic RVs in both TGA and ccTGA are dilated, spherical, and poorly functioning. Compared to ccTGA, TGA RVs have reduced TAPSE and worse basilar hypokinesis.

  12. Anterior Transposition of Anomalous Tortuous Vertebral Artery Causing Cervical Radiculopathy: A Report of 2 Cases and Review of Literature.

    Science.gov (United States)

    Wang, Doris D; Burkhardt, Jan-Karl; Magill, Stephen T; Lawton, Michael T

    2017-05-01

    Cervical radiculopathy secondary to compression from vertebral artery (VA) tortuosity is a rare entity. We describe successful transposition through an anterolateral approach of tortuous VA loops causing cervical radiculopathy. Two patients with cervical radiculopathy (first case at C5-6 and second case at C3-4) secondary to anomalous VA loop compression underwent anterolateral approaches to the cervical spine for decompression and VA transposition. The anterior transverse foramina were drilled to unroof the VA loop, which was dissected free from the exiting nerve root. In both cases, the affected cervical nerve root was successfully decompressed with both radiographic and clinical improvements in radiculopathy symptoms. We found 8 other cases of VA transposition via either an anterolateral approach or a posterolateral approach described in the literature. Our second case of anterolateral VA transposition at the C3-4 level is the first case at this level and the highest level reported in the literature. Decompression using an anterolateral approach with direct microvascular transposition of the VA is a safe and effective treatment of this pathology and addresses the cause of radiculopathy more directly than the posterolateral approach. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Long-term results of vertical rectus muscle transposition and botulinum toxin for sixth nerve palsy.

    Science.gov (United States)

    Leiba, Hana; Wirth, Gabriela M; Amstutz, Christoph; Landau, Klara

    2010-12-01

    To report the long-term outcome of full-tendon vertical rectus muscle transposition combined with chemodenervation of the ipsilateral medial rectus muscle for acquired chronic sixth (abducens) nerve palsy. A retrospective study of all patients treated for severe abduction deficit with transposition plus botulinum toxin over the course of 11 years. Minimum follow-up was 12 months. Main outcome measures were the surgical result and its stability. A total of 22 patients were included. Mean age at the time of surgery was 41.7 ± 19.1 years (range, 4.5-69). The etiologies for the palsy were head trauma (11), tumor (10), and idiopathic (1). Mean follow-up time was 44.2 ± 37.4 months (range, 12-123). The average distance deviation was 38.1(Δ) ± 11.6(Δ) preoperatively, 4.0(Δ) ± 16.1(Δ) 3 months after the operation (p = 0.0004), and 7.9(Δ) ± 8.8(Δ) at 12 months (p = 0.0003), with no subsequent change. At the final examination, on average 44.2 months after the operation, 13 patients (59%) were within 10(Δ) of alignment, 2 (1%) were overcorrected, and 7 (32%) had vertical deviations. The majority of patients (73%) had no double vision in the primary position. No patient developed anterior segment ischemia. Vertical rectus muscle transposition combined with intraoperative botulinum toxin injection into the ipsilateral medial rectus muscle improved alignment in patients with complete chronic sixth nerve palsy. While the effects of treatment may have diminished slightly during the first year after surgery, they remained stable thereafter. Copyright © 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  14. An Improved Doppler Rate Estimation Approach for Sliding Spotlight SAR Data Based on the Transposition Domain

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    She Xiao-qiang

    2014-08-01

    Full Text Available In image processing of high-resolution sliding spotlight SAR, it is important to know the Doppler rate with accuracy; however, traditional Doppler rate estimation algorithms are not very helpful because of the azimuth spectrum folding phenomenon. In this study, an algorithm that works on the transposition domain is proposed to solve this problem. Furthermore, the algorithm is also helpful in obtaining excellent focused images by embedding it in the two-step technique. Finally, the proposed algorithm is verified using computer simulations.

  15. Modular evolution of TnGBSs, a new family of integrative and conjugative elements associating insertion sequence transposition, plasmid replication, and conjugation for their spreading.

    Science.gov (United States)

    Guérillot, Romain; Da Cunha, Violette; Sauvage, Elisabeth; Bouchier, Christiane; Glaser, Philippe

    2013-05-01

    Integrative and conjugative elements (ICEs) have a major impact on gene flow and genome dynamics in bacteria. The ICEs TnGBS1 and TnGBS2, first identified in Streptococcus agalactiae, use a DDE transposase, unlike most characterized ICEs, which depend on a phage-like integrase for their mobility. Here we identified 56 additional TnGBS-related ICEs by systematic genome analysis. Interestingly, all except one are inserted in streptococcal genomes. Sequence comparison of the proteins conserved among these ICEs defined two subtypes related to TnGBS1 or TnGBS2. We showed that both types encode different conjugation modules: a type IV secretion system, a VirD4 coupling protein, and a relaxase and its cognate oriT site, shared with distinct lineages of conjugative elements of Firmicutes. Phylogenetic analysis suggested that TnGBSs evolved from two conjugative elements of different origins by the successive recruitment of a transposition module derived from insertion sequences (ISs). Furthermore, TnGBSs share replication modules with different plasmids. Mutational analyses and conjugation experiments showed that TnGBS1 and TnGBS2 combine replication and transposition upstream promoters for their transfer and stabilization. Despite an evolutionarily successful horizontal dissemination within the genus Streptococcus, these ICEs have a restricted host range. However, we reveal that for TnGBS1 and TnGBS2, this host restriction is not due to a transfer incompatibility linked to the conjugation machineries but most likely to their ability for transient maintenance through replication after their transfer.

  16. Repetitive transpositions of mitochondrial DNA sequences to the nucleus during the radiation of horseshoe bats (Rhinolophus, Chiroptera).

    Science.gov (United States)

    Shi, Huizhen; Dong, Ji; Irwin, David M; Zhang, Shuyi; Mao, Xiuguang

    2016-05-01

    Transposition of mitochondrial DNA into the nucleus, which gives rise to nuclear mitochondrial DNAs (NUMTs), has been well documented in eukaryotes. However, very few studies have assessed the frequency of these transpositions during the evolutionary history of a specific taxonomic group. Here we used the horseshoe bats (Rhinolophus) as a case study to determine the frequency and relative timing of nuclear transfers of mitochondrial control region sequences. For this, phylogenetic and coalescent analyzes were performed on NUMTs and authentic mtDNA sequences generated from eight horseshoe bat species. Our results suggest at least three independent transpositions, including two ancient and one more recent, during the evolutionary history of Rhinolophus. The two ancient transpositions are represented by the NUMT-1 and -2 clades, with each clade consisting of NUMTs from almost all studied species but originating from different portions of the mtDNA genome. Furthermore, estimates of the most recent common ancestor for each clade corresponded to the time of the initial diversification of this genus. The recent transposition is represented by NUMT-3, which was discovered only in a specific subgroup of Rhinolophus and exhibited a close relationship to its mitochondrial counterpart. Our similarity searches of mtDNA in the R. ferrumequinum genome confirmed the presence of NUMT-1 and NUMT-2 clade sequences and, for the first time, assessed the extent of NUMTs in a bat genome. To our knowledge, this is the first study to report on the frequency of transpositions of mtDNA occurring before the common ancestry of a genus. Copyright © 2016 Elsevier B.V. All rights reserved.

  17. The role of the Fontan operation in the treatment of congenitally corrected transposition of the great arteries

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    Tom R Karl

    2011-01-01

    Full Text Available Congenitally corrected transposition of the great arteries (ccTGA is a complex cardiac anomaly with an unfavorable natural history. Surgical treatment has been available for over 50 years. Initial procedures used for ccTGA did not correct atrio-ventricular discordance, leaving the right ventricle in systemic position. In the past two decades anatomic repair has been considered to be a better option. Many cases subjected to anatomic repairs would also be suitable for the Fontan strategy, which probably has a lower initial risk. The rationale for use of the Fontan operation in management of congenitally corrected transposition is discussed in this review, with comparisons to other strategies.

  18. Implementation of Super-Encryption with Trithemius Algorithm and Double Transposition Cipher in Securing PDF Files on Android Platform

    Science.gov (United States)

    Budiman, M. A.; Rachmawati, D.; Jessica

    2018-03-01

    This study aims to combine the trithemus algorithm and double transposition cipher in file security that will be implemented to be an Android-based application. The parameters being examined are the real running time, and the complexity value. The type of file to be used is a file in PDF format. The overall result shows that the complexity of the two algorithms with duper encryption method is reported as Θ (n 2). However, the processing time required in the encryption process uses the Trithemius algorithm much faster than using the Double Transposition Cipher. With the length of plaintext and password linearly proportional to the processing time.

  19. Intestinal growth adaptation and glucagon-like peptide 2 in rats with ileal--jejunal transposition or small bowel resection

    DEFF Research Database (Denmark)

    Thulesen, J; Hartmann, B; Kissow, Hannelouise

    2001-01-01

    -jejunal transposition, resection of the proximal or distal half of the small intestine, and appropriate sham-operated controls. After two weeks, ileal-jejunal transposition led to pronounced growth of the transposed segment and also of the remaining intestinal segments. Plasma GLP-2 levels increased twofold, whereas...... GLP-2 levels in the intestinal segments were unchanged. In resected rats with reduced intestinal capacity, adaptive small bowel growth was more pronounced following proximal resection than distal small bowel resection. Circulating GLP-2 levels increased threefold in proximally resected animals...... with increased plasma levels of GLP-2, and GLP-2 seems to act in an endocrine as well as a paracrine manner....

  20. Comparison of hemihypoglossal-facial nerve transposition with a cross-facial nerve graft and muscle transplant for the rehabilitation of facial paralysis using the facial clima method.

    Science.gov (United States)

    Hontanilla, Bernardo; Vila, Antonio

    2012-02-01

    To compare quantitatively the results obtained after hemihypoglossal nerve transposition and microvascular gracilis transfer associated with a cross facial nerve graft (CFNG) for reanimation of a paralysed face, 66 patients underwent hemihypoglossal transposition (n = 25) or microvascular gracilis transfer and CFNG (n = 41). The commissural displacement (CD) and commissural contraction velocity (CCV) in the two groups were compared using the system known as Facial clima. There was no inter-group variability between the groups (p > 0.10) in either variable. However, intra-group variability was detected between the affected and healthy side in the transposition group (p = 0.036 and p = 0.017, respectively). The transfer group had greater symmetry in displacement of the commissure (CD) and commissural contraction velocity (CCV) than the transposition group and patients were more satisfied. However, the transposition group had correct symmetry at rest but more asymmetry of CCV and CD when smiling.

  1. Active Pedicle Epithelial Flap Transposition Combined with Amniotic Membrane Transplantation for Treatment of Nonhealing Corneal Ulcers

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    Ting Zhang

    2016-01-01

    Full Text Available Introduction. The objective was to evaluate the efficacy of active pedicle epithelial flap transposition combined with amniotic membrane transplantation (AMT in treating nonhealing corneal ulcers. Material and Methods. Eleven patients (11 eyes with nonhealing corneal ulcer who underwent the combined surgery were included. Postoperatively, ulcer healing time was detected by corneal fluorescein staining. Visual acuity, intraocular pressure, surgical complications, and recurrence were recorded. Corneal status was inspected by the laser scanning confocal microscopy and anterior segment optical coherence tomography (AS-OCT. Results. The primary diseases were herpes simplex keratitis (8 eyes, corneal graft ulcer (2 eyes, and Stevens-Johnson syndrome (1 eye. All epithelial flaps were intact following surgery, without shedding or displacement. Mean ulcer healing time was 10.8±3.1 days, with a healing rate of 91%. Vision significantly improved from 1.70 to 0.82 log MAR (P=0.001. A significant decrease in inflammatory cell infiltration and corneal stromal edema was revealed 2 months postoperatively by confocal microscopy and AS-OCT. Corneal ulcer recurred in 1 eye. None of the patients developed major complications. Conclusion. Active pedicle epithelial flap transposition combined with AMT is a simple and effective treatment for nonhealing corneal ulcers.

  2. Unusual presentation of congenitally corrected transposition of great arteries (CCTGAs in a middle aged male

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    Nambakam Tanuja Subramanyam

    2015-01-01

    Full Text Available Congenitally corrected transposition of great arteries (CCTGAs is a rare congenital heart disease. The literature review reveals that asymptomatic CCTGA is even rarer in elderly male. We report a case of a 54-year-old male, with no past significant medical history, who presented with angina type of chest pain. On examination, he had bradycardia, lower limb hypertension and grade 3 pansystolic murmur in the mitral area. Investigations revealed complete heart block in electrocardiograph, chest radiograph showed cardiomegaly, transthoracic echocardiography showed an apically located systemic atrio-ventricular (AV valve, parallel arrangement of the great arteries, AV and ventriculoarterial discordance, hypertrophied right ventricle and significant systemic AV valve insufficiency with ejection fraction of 40%. These findings were consistent with congenitally corrected transposition of the great arteries with systemic AV valve insufficiency. Holter monitoring showed complete heart block, no significant pauses and one event of ill-sustained ventricular tachycardia (ventricular triplet with the patient being asymptomatic during the study period. Need of internal cardioverter-defibrillator or pacemaker was deferred. The remaining hospital stay was uneventful. At the time of discharge, the patient was stable.

  3. Reconstruction of Anterior Neck Scar Contracture Using A Perforator-Supercharged Transposition Flap

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    Yoshihiro Noda, MD

    2018-02-01

    Full Text Available Summary:. Reconstruction of the anterior neck requires attention to both aesthetic and functional outcomes. In general, skin grafts are not suitable for anterior neck reconstruction in Asian patients, even when artificial dermis is used before skin grafting. Therefore, we have employed various types of thin flaps for anterior neck reconstruction, including the cervico-pectoral flap. However, we have realized that, to fully release neck contractures and therefore achieve the full range of neck extension, the skin pedicle must be sufficiently wide. Therefore, we have started reconstructing anterior neck scar contractures using wide, thin, and long flaps that are harvested from the anterior chest wall. In this article, we describe the case of a 71-year-old man who presented with a neck contracture and tracheal fistula after receiving extensive burns. A transposition flap bearing the internal mammary artery perforator was harvested from the anterior chest wall to repair the neck wounds that were left after removing the scar. At the same time, the tracheal fistula was covered by the flap. The aesthetic and functional results were acceptable. The effectiveness of supercharged transposition flaps from the anterior chest wall for reconstructing anterior neck scar contraction is discussed.

  4. Augmented vertical recti transposition with intraoperative botulinum toxin for complete and chronic sixth nerve palsy.

    Science.gov (United States)

    Nabie, R; Andalib, D

    2017-01-01

    PurposeTo evaluate the results of augmented vertical rectus muscle transposition (VRT) with intraoperative botulinum toxin (BTX) for complete and chronic sixth nerve palsy.MethodsDuring a 10-year period (2004-2014) all patients with chronic and complete sixth nerve palsy and contracted medial rectus (MR) who underwent augmented VRT and BTX injection into the MR enrolled in this study.ResultsIn total, 29 patients (5 bilateral) were enrolled in this study. Preoperative deviation was 45±17.5 Prism Diopter (PD), which was improved to -3.1±13.2 after the operation (P<0.001). Mean preoperative and postoperative abduction limitation was -4.4±1.1 and -1.8±0.9, respectively (P<0.001). The success rate was 76% (deviation within 10 PD of orthotropia). Four patients (13.7%) had hypotropia. In 19 patients with preoperative deviation ≤45 PD, four patients had consecutive exotropia.ConclusionIntraoperative BTX injection with augmented vertical rectus transposition is an effective procedure. In deviation ≤45 there is a risk of overcorrection.

  5. Modified technique of bilateral gluteus maximus transposition for reconstruction of sphincter for pediatric traumatic fecal incontinence.

    Science.gov (United States)

    Kong, Feiteng; Wu, Yang; Chen, Yongmei; Liu, Juxian; Li, Fuyu; Xiang, Bo

    2015-12-01

    The aim of the study was to report our 13-year experience of 14 children with gluteus maximus muscular transposition to treat post-trauma fecal incontinence and discuss our technical modifications to this surgical procedure. Fourteen children (median age: 9.9years) with complete fecal incontinence after traumas received this procedure from December 1998 to February 2011. The major modification of the surgery was that we transposed two thick muscular bundles about 2cm in diameter bilaterally. They surrounded the middle portion of rectum to act as sphincters. We used dynamic defecography and anorectal endosonography to observe the functions of the transposed muscles. Wexner scores, fecal incontinence quality of life questionnaire and self-rated health measurement scale scores had been used to evaluate their life quality. The median follow-up time was 6.3years. Twelve children reported prominently improved fecal controls with reduced stool frequency. Postoperative dynamic defecography and anorectal endosongraphy vividly demonstrated the satisfactory voluntary contractile and relaxed states of the reconstructed muscle. Wexner scores were significantly improved both 1year and 2years after the procedure (Pgluteus maximus transposition for reconstruction of sphincter efficiently improved fecal control and life quality for pediatric patients with traumatic fecal incontinence. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Active Pedicle Epithelial Flap Transposition Combined with Amniotic Membrane Transplantation for Treatment of Nonhealing Corneal Ulcers.

    Science.gov (United States)

    Zhang, Ting; Wang, Yuexin; Jia, Yanni; Liu, Dongle; Li, Suxia; Shi, Weiyun; Gao, Hua

    2016-01-01

    Introduction . The objective was to evaluate the efficacy of active pedicle epithelial flap transposition combined with amniotic membrane transplantation (AMT) in treating nonhealing corneal ulcers. Material and Methods . Eleven patients (11 eyes) with nonhealing corneal ulcer who underwent the combined surgery were included. Postoperatively, ulcer healing time was detected by corneal fluorescein staining. Visual acuity, intraocular pressure, surgical complications, and recurrence were recorded. Corneal status was inspected by the laser scanning confocal microscopy and anterior segment optical coherence tomography (AS-OCT). Results . The primary diseases were herpes simplex keratitis (8 eyes), corneal graft ulcer (2 eyes), and Stevens-Johnson syndrome (1 eye). All epithelial flaps were intact following surgery, without shedding or displacement. Mean ulcer healing time was 10.8 ± 3.1 days, with a healing rate of 91%. Vision significantly improved from 1.70 to 0.82 log MAR ( P = 0.001). A significant decrease in inflammatory cell infiltration and corneal stromal edema was revealed 2 months postoperatively by confocal microscopy and AS-OCT. Corneal ulcer recurred in 1 eye. None of the patients developed major complications. Conclusion . Active pedicle epithelial flap transposition combined with AMT is a simple and effective treatment for nonhealing corneal ulcers.

  7. Genomic comparison between Staphylococcus aureus GN strains clinically isolated from a familial infection case: IS1272 transposition through a novel inverted repeat-replacing mechanism.

    Directory of Open Access Journals (Sweden)

    Tsai-Wen Wan

    Full Text Available A bacterial insertion sequence (IS is a mobile DNA sequence carrying only the transposase gene (tnp that acts as a mutator to disrupt genes, alter gene expressions, and cause genomic rearrangements. "Canonical" ISs have historically been characterized by their terminal inverted repeats (IRs, which may form a stem-loop structure, and duplications of a short (non-IR target sequence at both ends, called target site duplications (TSDs. The IS distributions and virulence potentials of Staphylococcus aureus genomes in familial infection cases are unclear. Here, we determined the complete circular genome sequences of familial strains from a Panton-Valentine leukocidin (PVL-positive ST50/agr4 S. aureus (GN infection of a 4-year old boy with skin abscesses. The genomes of the patient strain (GN1 and parent strain (GN3 were rich for "canonical" IS1272 with terminal IRs, both having 13 commonly-existing copies (ce-IS1272. Moreover, GN1 had a newly-inserted IS1272 (ni-IS1272 on the PVL-converting prophage, while GN3 had two copies of ni-IS1272 within the DNA helicase gene and near rot. The GN3 genome also had a small deletion. The targets of ni-IS1272 transposition were IR structures, in contrast with previous "canonical" ISs. There were no TSDs. Based on a database search, the targets for ce-IS1272 were IRs or "non-IRs". IS1272 included a larger structure with tandem duplications of the left (IRL side sequence; tnp included minor cases of a long fusion form and truncated form. One ce-IS1272 was associated with the segments responsible for immune evasion and drug resistance. Regarding virulence, GN1 expressed cytolytic peptides (phenol-soluble modulin α and δ-hemolysin and PVL more strongly than some other familial strains. These results suggest that IS1272 transposes through an IR-replacing mechanism, with an irreversible process unlike that of "canonical" transpositions, resulting in genomic variations, and that, among the familial strains, the patient

  8. Ileal Transposition Surgery Decreases Fat Mass and Improves Glucose Metabolism in Diabetic GK Rats: Possible Involvement of FGF21

    Directory of Open Access Journals (Sweden)

    Kemin Yan

    2018-03-01

    Full Text Available Objective: Ileal transposition (IT surgery has been reported to improve glucose and lipid metabolism, and fibroblast growth factor 21 (FGF21 is a powerful metabolic regulator. In the present study, we aimed to investigate the effects of IT surgery on metabolism and its possible relationship with the FGF21 signaling pathway in diabetic Goto-Kakizaki (GK rats.Methods: Ten-week-old male GK rats were subjected to IT surgery with translocation of a 10 cm ileal segment to the proximal jejunum (IT group or sham surgery without the ileum transposition (Sham-IT group. Rats in the no surgery group did not receive any surgical intervention. Six weeks later, body weight, fat mass, fasting blood glucose (FBG, and serum levels of FGF21 and leptin were measured. The expression of the FGF21 signaling pathway and white adipose tissue (WAT browning-related genes in the WAT and liver were evaluated by real-time reverse transcription polymerase chain reaction (RT-qPCR and western blot.Results: IT surgery significantly decreased the body weights and FBG levels and increased the insulin sensitivity of GK rats. The total WAT mass of the IT rats showed a 41.5% reduction compared with the Sham-IT rats, and serum levels of FGF21 and leptin of the IT rats decreased by 26.3 and 61.7%, respectively (all P < 0.05. The mRNA levels of fibroblast growth factor receptor 1 (FGFR1 and its co-receptor β klotho (KLB in the perirenal WAT (pWAT of the IT rats were 1.4- and 2.4-fold that of the Sham-IT rats, respectively, and the FGFR1 protein levels were 1.7-fold of the Sham-IT rats (all P < 0.05. In accordance with the pWAT, the protein levels of FGFR1 and KLB in the epididymal WAT (eWAT of the IT rats notably increased to 3.0- and 3.9-fold of the Sham-IT rats (P < 0.05. Furthermore, uncoupling protein 1 (UCP1 protein levels in the eWAT and pWAT of the IT rats also increased to 2.2- and 2.3-fold of the Sham-IT rats (P < 0.05. However, the protein levels of FGFR1 and KLB in the

  9. Dedifferentiation-mediated changes in transposition behavior make the Activator transposon an ideal tool for functional genomics in rice

    NARCIS (Netherlands)

    Kohli, A.; Prynne, M.Q.; Miro, B.; Pereira, A.B.; Twyman, R.M.; Capell, T.; Christou, P.

    2004-01-01

    There is an inverse relationship between the level of cytosine methylation in genomic DNA and the activity of plant transposable elements. Increased transpositional activity is seen during early plant development when genomic methylation patterns are first erased and then reset. Prolonging the

  10. The first experience of successful pregnancy after simultaneous liver-kidney transplantation with reno-portal transposition

    Directory of Open Access Journals (Sweden)

    O. V. Tkachenko

    2017-01-01

    Full Text Available The article is dedicated to the problem of pregnancy management and delivery after simultaneous liver-kidney transplantation (SLKT. The article contains general historic and statistic information, and presents the first real world clinical case of favorable pregnancy outcome in patient after simultaneous liver-kidney transplantation with reno-portal transposition.

  11. One-stage neonatal corrective repair for d-transposition of the great arteries and complete atrio-ventricular canal.

    Science.gov (United States)

    Bautista-Hernandez, Victor; Marx, Gerald R; del Nido, Pedro J

    2007-01-01

    Association of d-transposition of the great arteries and complete atrio-ventricular canal constitutes an uncommon and complex cardiac anomaly usually associated with poor prognosis. We report our experience on one-stage neonatal repair for d-transposition of the great arteries and complete atrio-ventricular canal. Between August 1997 and 2005, four patients (two males and two females) underwent anatomical correction for d-transposition of the great arteries and complete atrio-ventricular canal using an arterial switch procedure and two-patch repair. Mean age and weight at operation were 20 days (range from 3 to 28 days) and 3.2kg (range from 2.7 to 3.5kg), respectively. None of the patients received preoperative palliative procedure. Associated lesions were left outflow tract obstruction in three patients and multiple muscular ventricular septal defects in two patients. All four patients survived the operation. There was one in-hospitality death due to fungal sepsis. One patient required late re-operation for left ventricular outflow tract obstruction and left atrio-ventricular valve regurgitation. For a mean follow-up of 67 months (range from 51 to 90 months) all patients are asymptomatic and with no residual defects. Corrective repair of d-transposition of the great arteries and complete atrio-ventricular canal can be successfully achieved in this very challenging population during the neonatal period.

  12. Late Atrio-ventricular Block After Arterial Switch for D-transposition of the Great Vessels With Intact Interventricular Septum

    OpenAIRE

    Caudron, Guillaume; Hascoet, Sebastien; Dulac, Yves; Maury, Philippe

    2011-01-01

    Arterial switch operation for transposition of the great arteries without ventricular septal defect usually does not lead to atrio-ventricular conduction disturbances. We discuss the case of a young boy presenting with first and second degree supra hisian atrio-ventricular block late after switch operation.

  13. Late Atrio-ventricular Block After Arterial Switch for D-transposition of the Great Vessels With Intact Interventricular Septum.

    Science.gov (United States)

    Caudron, Guillaume; Hascoet, Sebastien; Dulac, Yves; Maury, Philippe

    2011-10-01

    Arterial switch operation for transposition of the great arteries without ventricular septal defect usually does not lead to atrio-ventricular conduction disturbances. We discuss the case of a young boy presenting with first and second degree supra hisian atrio-ventricular block late after switch operation.

  14. Inferior Alveolar Nerve Lateralization and Transposition for Dental Implant Placement. Part I: a Systematic Review of Surgical Techniques

    Directory of Open Access Journals (Sweden)

    Boris Abayev

    2015-03-01

    Full Text Available Objectives: The purpose of this first part of a two-part series was to review the literature concerning the indications, contraindications, advantages, disadvantages and surgical techniques of the lateralization and transposition of the inferior alveolar nerve, followed by the placement of an implant in an edentulous atrophic posterior mandible. Material and Methods: A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC database, academic sites and books. The articles were searched from January 1997 to July 2014 and comprised English-language articles that included adult patients between 18 and 80 years old with minimal residual bone above the mandibular canal who had undergone inferior alveolar nerve (IAN repositioning with a minimum 6 months of follow-up. Results: A total of 16 studies were included in this review. Nine were related to IAN transposition, 4 to IAN lateralization and 3 to both transposition and lateralization. Implant treatment results and complications were presented. Conclusions: Inferior alveolar nerve lateralization and transposition in combination with the installation of dental implants is sometimes the only possible procedure to help patients to obtain a fixed prosthesis, in edentulous atrophic posterior mandibles. With careful pre-operative surgical and prosthetic planning, imaging, and extremely precise surgical technique, this procedure can be successfully used for implant placement in edentulous posterior mandibular segments.

  15. An O([Formula: see text]) algorithm for sorting signed genomes by reversals, transpositions, transreversals and block-interchanges.

    Science.gov (United States)

    Yu, Shuzhi; Hao, Fanchang; Leong, Hon Wai

    2016-02-01

    We consider the problem of sorting signed permutations by reversals, transpositions, transreversals, and block-interchanges. The problem arises in the study of species evolution via large-scale genome rearrangement operations. Recently, Hao et al. gave a 2-approximation scheme called genome sorting by bridges (GSB) for solving this problem. Their result extended and unified the results of (i) He and Chen - a 2-approximation algorithm allowing reversals, transpositions, and block-interchanges (by also allowing transversals) and (ii) Hartman and Sharan - a 1.5-approximation algorithm allowing reversals, transpositions, and transversals (by also allowing block-interchanges). The GSB result is based on introduction of three bridge structures in the breakpoint graph, the L-bridge, T-bridge, and X-bridge that models goodreversal, transposition/transreversal, and block-interchange, respectively. However, the paper by Hao et al. focused on proving the 2-approximation GSB scheme and only mention a straightforward [Formula: see text] algorithm. In this paper, we give an [Formula: see text] algorithm for implementing the GSB scheme. The key idea behind our faster GSB algorithm is to represent cycles in the breakpoint graph by their canonical sequences, which greatly simplifies the search for these bridge structures. We also give some comparison results (running time and computed distances) against the original GSB implementation.

  16. Risk of complications during pregnancy after Senning or Mustard (atrial) repair of complete transposition of the great arteries

    NARCIS (Netherlands)

    Drenthen, Willem; Pieper, Petronella G.; Ploeg, Martine; Voors, Adriaan A.; Roos-Hesselink, Jolien W.; Mulder, Barbara J. M.; Vliegen, Hubert W.; Sollie, Krystyna M.; Ebels, Tjark; van Veldhuisen, Dirk J.

    2005-01-01

    Aims To investigate magnitude and determinants of risks during pregnancy in women with Mustard or Senning repair for complete transposition of the great arteries (TGA). Methods and results Using a nationwide registry (CONCOR), 70 women with Senning (23%) or Mustard (77%) repair for TGA were

  17. Exercise performance and activity level in children with transposition of the great arteries treated by the arterial switch operation.

    NARCIS (Netherlands)

    Beek, E. van; Binkhorst, M.; Hoog, M. de; Groot, P.C.E. de; Dijk, A.P.J. van; Schokking, M.; Hopman, M.T.E.

    2010-01-01

    The exercise capacity of children after arterial switch for transposition of the great arteries (TGA) is known to be at the lower limit of normal. We aimed to ascertain whether this results from compromised hemodynamics or deconditioning. A total of 17 children with TGA (12 male and 5 female

  18. Exercise performance and activity level in children with transposition of the great arteries treated by the arterial switch operation

    NARCIS (Netherlands)

    van Beek, Elsje; Binkhorst, Mathijs; de Hoog, Marieke; de Groot, Patricia; van Dijk, Arie; Schokking, Michiel; Hopman, Maria

    2010-01-01

    The exercise capacity of children after arterial switch for transposition of the great arteries (TGA) is known to be at the lower limit of normal. We aimed to ascertain whether this results from compromised hemodynamics or deconditioning. A total of 17 children with TGA (12 male and 5 female

  19. Comparison of Total Arch and Partial Arch Transposition During Hybrid Endovascular Repair for Aortic Arch Disease.

    Science.gov (United States)

    Kang, W C; Ko, Y-G; Oh, P C; Shin, E K; Park, C-H; Choi, D; Youn, Y N; Lee, D Y

    2016-08-01

    Total arch transposition (TAT) during hybrid endovascular repair for aortic arch disease is believed to allow a better landing zone, but also to be associated with higher peri-operative mortality than partial arch transposition (PAT). Information on this issue is limited. This study was a retrospective analysis. All 53 consecutive patients with aortic arch disease (41 males, mean age 65.0 years) who underwent hybrid endovascular repair with TAT (zone 0, n=20) or PAT (zone 1 or 2, n=33) from 2008 to 2014 were analyzed retrospectively. The peri-operative and late outcomes of these two groups were compared. Baseline characteristics, including EuroSCORE II results, were similar in the two groups. After procedures, peri-operative mortalities and stroke rates were similar in the two groups (5.0% vs. 9.1%, p=1.000, and 10.0% vs. 6.1%, p=.627). Interestingly, all four strokes occurred in patients with a type III aortic arch irrespective of transposition type. Primary success rates (80.0% vs. 69.7%, p=.527) and type I endoleak incidences (20.0% vs. 27.3%, p=.744) were not significantly different. During follow up (mean duration 36.9 months), overall survival (89.7% vs. 87.4% at 1 year and 89.7% vs. 79.3% at 3 years; p=.375) and re-intervention free survival rates (78.6% vs. 92.0% at 1 year; 72.0% vs. 62.2% at 3 years, p=.872) were similar in the two groups. Morbidity and mortality were high within the first year of hybrid endovascular therapy for aortic arch disease, implying that candidates for hybrid procedures need to be selected carefully. Hybrid endovascular repair with TAT was found to have peri-operative mortality, stroke, and long-term survival rates comparable with PAT, so hybrid endovascular repair may be considered, irrespective of type of arch reconstruction, when clinically indicated. Copyright © 2016 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

  20. HERCA Action Plan in relation to the transposition and implementation of Directive 2013/59/Euratom (Euratom BSS)

    International Nuclear Information System (INIS)

    Fremout, An; Vanderlinck, Annie; Berlamont, Jolien; Van Bladel, Lodewijk; Petrova, Karla; Ulbak, Kaare; Mundigl, Stefan; ); Markkanen, Mika; Godet, Jean-Luc; Tran-Thien, Vivien; Koch, Isabell Christin; Hackstein, Matthias; Griebel, Juergen; Kamenopoulou, Vasiliki; Fennel, Stephan; Ryan, Tom; Schreiner, Alexandra; Majerus, Patrick; Vermeulen, Ton; Holo, Eldri; Wiklund, Asa; RYF, Salome; Thomas, Gareth; Wellens, Rob; Ebdon-Jackson, Steve

    2014-10-01

    On 5 December 2013, the Council of the European Union adopted Council Directive 2013/59/Euratom laying down basic safety standards for protection against the dangers arising from exposure to ionising radiation.1 Member States have to transpose the new Basic Safety Standards Directive (BSS Directive) into their national legal systems by 6 February 2018 at the latest. At the 13. meeting of the Board of HERCA (BoH) in Vilnius in June 2014, a proposal to establish a special Task Force (TF) to make proposals in relation to HERCA activities in support of the transposition and implementation of the new Euratom BSS Directive was agreed. The BSS-TF was established, commenced its work on the basis of a 'non-questionnaire' and a discussion document. It met on one occasion on 7 October 2014 and agreed an action plan for consideration by the BoH. The agreed action plan proposal was approved by the BoH on the occasion of its 14. meeting in Stockholm, on 21-22 October 2014. The approved Action Plan covers the following areas: - Identification of HERCA's role in the transposition of the new Euratom BSS; - Definition of actions for HERCA in relation to the transposition of the BSS; - Coordination between HERCA and the EC in relation to BSS transposition activities. The Actions identified relate to several subject areas: Emergency preparedness and response; Medical exposures; Radon; Non-medical imaging exposures; RPE/RPO; General exchange of information. HERCA is a voluntary association, in which the Heads of European Radiological Protection Competent Authorities work together in order to identify common issues and propose practical solutions for these issues. It has no statutory role in relation to the transposition of the Euratom BSS. However, additional work by HERCA can support the transposition process as indicated in the Action Plan. Uniform transposition or implementation in the Member States is not an objective of HERCA activities. Clearly it will remain a

  1. Cardiac Resynchronization Therapy Device Implantation in a Patient with Congenitally Corrected Transposition of Great Vessels

    Directory of Open Access Journals (Sweden)

    Reza Mollazadeh

    2017-03-01

    Full Text Available A 29-year-old woman was referred to our hospital due to exacerbation in dyspnea on exertion and easy fatigability. A known case of congenitally corrected transposition of the great vessels and congenital complete heart block, she had already received a permanent single-chamber pacemaker. Decision was made to implant a biventricular pacemaker for the treatment of the failing heart. Excellent coronary sinus lead implantation was done, conferring amelioration of symptoms, QRS narrowing in the electrocardiogram, and improvement of systemic ventricular systolic function in echocardiography. Over a 15-month follow-up period, she had no dyspnea on exertion. This case highlights the significance of upgrading pacemakers in patients with heart failure.

  2. Transposon tagging of disease resistance genes. Progress report, May 1, 1988--1992

    Energy Technology Data Exchange (ETDEWEB)

    Michelmore, R.

    1994-06-01

    Our goal is to clone genes in lettuce determining resistance to downy mildew. One approach involves the mobilization of transposons into resistance genes to mutate and tag the target gene. Because transposons have yet to be isolated and characterized from lettuce, the majority of our experiments have involved Ac from corn as this is increasingly the best characterized transposon. Over the past several years, various labs have contributed to a detailed understanding of the biology of Ac in corn and heterologous plant species. We have collaborated closely with several of these labs, exchanged materials and incorporated their advances into our analysis of transposition in lettuce. The original proposal described the development of a transposon mutagenesis system for lettuce and its subsequent use to tag disease resistance genes. The development phase involved characterization and manipulation of Ac transposition, identification of suitable whole plant selectable markers for the construction of chimeric non-autonomous elements, and investigation of the stability of resistance genes. Investigation of Ac transposition in lettuce has received the majority of our attention. Initially, we made a simple construct with wildtype Ac and introduced it into lettuce. No transposition was observed; although other labs demonstrated that the same construct was functional in tomato. We then focused on assaying for Ac transposition with constructs of increasing sophistication that had been demonstrated by others to be functional in other species. The latest constructs for transposon mutagenesis clearly demonstrated transposition in lettuce. This allowed us to generate seed stocks that we will start to screen for insertional inactivation of resistance genes this year.

  3. Transposed genes in Arabidopsis are often associated with flanking repeats.

    Directory of Open Access Journals (Sweden)

    Margaret R Woodhouse

    2010-05-01

    Full Text Available Much of the eukaryotic genome is known to be mobile, largely due to the movement of transposons and other parasitic elements. Recent work in plants and Drosophila suggests that mobility is also a feature of many nontransposon genes and gene families. Indeed, analysis of the Arabidopsis genome suggested that as many as half of all genes had moved to unlinked positions since Arabidopsis diverged from papaya roughly 72 million years ago, and that these mobile genes tend to fall into distinct gene families. However, the mechanism by which single gene transposition occurred was not deduced. By comparing two closely related species, Arabidopsis thaliana and Arabidopsis lyrata, we sought to determine the nature of gene transposition in Arabidopsis. We found that certain categories of genes are much more likely to have transposed than others, and that many of these transposed genes are flanked by direct repeat sequence that was homologous to sequence within the orthologous target site in A. lyrata and which was predominantly genic in identity. We suggest that intrachromosomal recombination between tandemly duplicated sequences, and subsequent insertion of the circular product, is the predominant mechanism of gene transposition.

  4. Transposition of Great Arteries with Intramural Coronary Artery: Experience with a Modified Surgical Technique

    Directory of Open Access Journals (Sweden)

    Amit Mishra

    2016-02-01

    Full Text Available Abstract Objective: Transposition of the great arteries is a common congenital heart disease. Arterial switch is the gold standard operation for this complex heart disease. Arterial switch operation in the presence of intramural coronary artery is surgically the most demanding even for the most experienced hands. We are presenting our experience with a modified technique for intramural coronary arteries in arterial switch operation. Methods: This prospective study involves 450 patients undergoing arterial switch operation at our institute from April 2006 to December 2013 (7.6 years. Eighteen patients underwent arterial switch operation with intramural coronary artery. The coronary patterns and technique used are detailed in the text. Results: The overall mortality found in the subgroup of 18 patients having intramural coronary artery was 16% (n=3. Our first patient had an accidental injury to the left coronary artery and died in the operating room. A seven-day old newborn died from intractable ventricular arrhythmia fifteen hours after surgery. Another patient who had multiple ventricular septal defects with type B arch interruption died from residual apical ventricular septal defect and sepsis on the eleventh postoperative day. The remainder of the patients are doing well, showing a median follow-up duration of 1235.34±815.26 days (range 369 - 2730. Conclusion: Transposition of the great arteries with intramural coronary artery is demanding in a subset of patients undergoing arterial switch operation. We believe our technique of coronary button dissection in the presence of intramural coronary arteries using coronary shunt is simple and can be a good addition to the surgeons' armamentarium.

  5. Regional frequency analysis of extreme rainfall for the Baltimore Metropolitan region based on stochastic storm transposition

    Science.gov (United States)

    Zhou, Z.; Smith, J. A.; Yang, L.; Baeck, M. L.; Wright, D.; Liu, S.

    2017-12-01

    Regional frequency analyses of extreme rainfall are critical for development of engineering hydrometeorology procedures. In conventional approaches, the assumptions that `design storms' have specified time profiles and are uniform in space are commonly applied but often not appropriate, especially over regions with heterogeneous environments (due to topography, water-land boundaries and land surface properties). In this study, we present regional frequency analyses of extreme rainfall for Baltimore study region combining storm catalogs of rainfall fields derived from weather radar and stochastic storm transposition (SST, developed by Wright et al., 2013). The study region is Dead Run, a small (14.3 km2) urban watershed, in the Baltimore Metropolitan region. Our analyses build on previous empirical and modeling studies showing pronounced spatial heterogeneities in rainfall due to the complex terrain, including the Chesapeake Bay to the east, mountainous terrain to the west and urbanization in this region. We expand the original SST approach by applying a multiplier field that accounts for spatial heterogeneities in extreme rainfall. We also characterize the spatial heterogeneities of extreme rainfall distribution through analyses of rainfall fields in the storm catalogs. We examine the characteristics of regional extreme rainfall and derive intensity-duration-frequency (IDF) curves using the SST approach for heterogeneous regions. Our results highlight the significant heterogeneity of extreme rainfall in this region. Estimates of IDF show the advantages of SST in capturing the space-time structure of extreme rainfall. We also illustrate application of SST analyses for flood frequency analyses using a distributed hydrological model. Reference: Wright, D. B., J. A. Smith, G. Villarini, and M. L. Baeck (2013), Estimating the frequency of extreme rainfall using weather radar and stochastic storm transposition, J. Hydrol., 488, 150-165.

  6. Vertical muscle transposition augmented with lateral fixation (Foster) suture for Duane syndrome and sixth nerve palsy.

    Science.gov (United States)

    Akar, S; Gokyigit, B; Pekel, G; Demircan, A; Demirok, A

    2013-10-01

    To report the postoperative results of full-tendon vertical rectus transposition (VRT) augmented with lateral fixation suture for the treatment of type 1 Duane syndrome and sixth nerve palsy and to determine whether there was a decrease in the effect of the Foster suture over time. This retrospective, consecutive case series included patients who underwent a full-tendon VRT transposition with lateral fixation for type 1 Duane syndrome or sixth nerve palsy. The primary outcome measures included deviation, abnormal head posture(AHP), abduction deficiency, and postoperative binocular single visual field (BSVF). Eighty-seven patients (87 eyes: 40 eyes with Duane syndrome and 47 eyes with sixth nerve palsy) were included in this study. In Duane syndrome patients, the deviation was reduced by a mean of 95%, the AHP was eliminated in 86% of patients, the abduction was improved by 42%, and a useful BSVF of ≈ 67% of normal was achieved at 1 year post operation. In sixth nerve palsy patients, the deviation was reduced by 99%, the abduction was improved by 59%, and a useful BSVF of ≈ 71% of normal was achieved at 1 year post operation. In both groups, the improvements in deviation angle and abduction were stable postoperatively. Sixteen patients needed reoperation for undercorrection. VRT surgery with posterior fixation is an effective treatment method for complete sixth nerve palsy and Duane syndrome with esotropia, AHP, and abduction deficiency. The procedure carries a small risk of reoperation for undercorrection. The effect of the Foster suture did not decline over time.

  7. Analysis of cosmid clones of nuclear DNA from Trypanosome brucei shows that the genes for variant surface glycoproteins are clustered in the genome.

    NARCIS (Netherlands)

    D. Valerio (Dinko); T. de Lange; P. Borst (Piet); F.G. Grosveld (Frank); L.H.T. van der Ploeg

    1982-01-01

    textabstractTrypanosoma brucei contains more than a hundred genes coding for the different variant surface glycoproteins (VSGs). Activation of some of these genes involves the duplication of the gene (the basic copy or BC) and transposition of the duplicate to an expression site (yielding the

  8. Gene

    Data.gov (United States)

    U.S. Department of Health & Human Services — Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes,...

  9. Inferior Alveolar Nerve Lateralization and Transposition for Dental Implant Placement. Part II: a Systematic Review of Neurosensory Complications

    Directory of Open Access Journals (Sweden)

    Boris Abayev

    2015-03-01

    Full Text Available Objectives: This article, the second in a two-part series, continues the discussion of inferior alveolar nerve lateralization/transposition for dental implant placement. The aim of this article is to review the scientific literature and clinical reports in order to analyse the neurosensory complications, risks and disadvantages of lateralization/transposition of the inferior alveolar nerve followed by implant placement in an edentulous atrophic posterior mandible. Material and Methods: A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC databases, as well as academic sites and books. The articles were searched from January 1997 to July 2014. Articles in English language, which included adult patients between 18 - 80 years of age who had minimal residual bone above the mandibular canal and had undergone inferior alveolar nerve (IAN repositioning, with minimum 6 months of follow-up, were included. Results: A total of 21 studies were included in this review. Ten were related to IAN transposition, 7 to IAN lateralization and 4 to both transposition and lateralization. The IAN neurosensory disturbance function was present in most patients (99.47% [376/378] for 1 to 6 months. In total, 0.53% (2/378 of procedures the disturbances were permanent. Conclusions: Inferior alveolar nerve repositioning is related to initial transient change in sensation in the majority of cases. The most popular causes of nerve damage are spatula-caused traction in the mucoperiosteal flap, pressure due to severe inflammation or retention of fluid around the nerve and subsequent development of transient ischemia, and mandibular body fracture.

  10. Continuous inhaled iloprost in a neonate with d-transposition of the great arteries and severe pulmonary arterial hypertension.

    Science.gov (United States)

    Dykes, John C; Torres, Marilyn; Alexander, Plato J

    2016-03-01

    This report describes the case of a neonate with d-transposition of the great arteries and severe pulmonary arterial hypertension stabilised in the post-operative period with continuous iloprost nebulisation. To our knowledge, this is the first documented method of treating post-operative severe pulmonary arterial hypertension with continuous inhaled iloprost in a patient with complex CHD. We found this method of delivering the drug very effective in stabilising haemodynamic swings in the setting of severe pulmonary arterial hypertension.

  11. Familial hypercholesterolemia and atherosclerosis in cloned minipigs created by DNA transposition of a human PCSK9 gain-of-function mutant.

    Science.gov (United States)

    Al-Mashhadi, Rozh H; Sørensen, Charlotte B; Kragh, Peter M; Christoffersen, Christina; Mortensen, Martin B; Tolbod, Lars P; Thim, Troels; Du, Yutao; Li, Juan; Liu, Ying; Moldt, Brian; Schmidt, Mette; Vajta, Gabor; Larsen, Torben; Purup, Stig; Bolund, Lars; Nielsen, Lars B; Callesen, Henrik; Falk, Erling; Mikkelsen, Jacob Giehm; Bentzon, Jacob F

    2013-01-02

    Lack of animal models with human-like size and pathology hampers translational research in atherosclerosis. Mouse models are missing central features of human atherosclerosis and are too small for intravascular procedures and imaging. Modeling the disease in minipigs may overcome these limitations, but it has proven difficult to induce rapid atherosclerosis in normal pigs by high-fat feeding alone, and genetically modified models similar to those created in mice are not available. D374Y gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene cause severe autosomal dominant hypercholesterolemia and accelerates atherosclerosis in humans. Using Sleeping Beauty DNA transposition and cloning by somatic cell nuclear transfer, we created Yucatan minipigs with liver-specific expression of human D374Y-PCSK9. D374Y-PCSK9 transgenic pigs displayed reduced hepatic low-density lipoprotein (LDL) receptor levels, impaired LDL clearance, severe hypercholesterolemia, and spontaneous development of progressive atherosclerotic lesions that could be visualized by noninvasive imaging. This model should prove useful for several types of translational research in atherosclerosis.

  12. Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA

    Directory of Open Access Journals (Sweden)

    Goldmuntz Elizabeth

    2005-05-01

    Full Text Available Abstract Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transposition of the great arteries (TGA. TGA accounts for 5–7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period. Methods To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene. Results Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region. Conclusion As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.

  13. Acupuncture Points of the Horse’s Distal Thoracic Limb: A Neuroanatomic Approach to the Transposition of Traditional Points

    Directory of Open Access Journals (Sweden)

    Lisa S. Lancaster

    2012-09-01

    Full Text Available Veterinary acupuncture charts were developed based on the concept of transpositional points whereby human acupuncture maps were adapted to animal anatomy. Transpositional acupuncture points have traditionally been placed in specific locations around the horse’s coronet and distal limb believed to be the closest approximation to the human distal limb points. Because the horse has a single digit and lacks several structures analogous to the human hand and foot, precisely transposing all of the human digital points is not anatomically possible. To date there is no published research on the effect of acupuncture treatment of the equine distal limb points. This paper presents a modified approach to equine distal limb point selection based on what is known from research on other species about the neuroanatomic method of acupuncture. A rationale is presented for modification of traditional equine ting points as well as additional points around the hoof and distal limb that do not appear in the standard textbooks of equine acupuncture. The anatomy and physiology of the equine foot likely to be affected by acupuncture are briefly reviewed. Modified neuroanatomic points are proposed that may be more accurate as transpositional points. As an example of clinical application, a neuroanatomic approach to acupuncture treatment of equine laminitis is presented.

  14. Efficient mammalian germline transgenesis by cis-enhanced Sleeping Beauty transposition

    Science.gov (United States)

    Carlson, Daniel F.; Geurts, Aron M.; Garbe, John R.; Park, Chang-Won; Rangel-Filho, Artur; O'Grady, Scott M.; Jacob, Howard J.; Steer, Clifford J.; Largaespada, David A.

    2012-01-01

    Heightened interest in relevant models for human disease increases the need for improved methods for germline transgenesis. We describe a significant improvement in the creation of transgenic laboratory mice and rats by chemical modification of Sleeping Beauty transposons. Germline transgenesis in mice and rats was significantly enhanced by in vitro cytosine-phosphodiester-guanine methylation of transposons prior to injection. Heritability of transgene alleles was also greater from founder mice generated with methylated versus non-methylated transposon. The artificial methylation was reprogrammed in the early embryo, leading to founders that express the transgenes. We also noted differences in transgene insertion number and structure (single-insert versus concatemer) based on the influence of methylation and plasmid conformation (linear versus supercoiled), with supercoiled substrate resulting in efficient transpositional transgenesis (TnT) with near elimination of concatemer insertion. Combined, these substrate modifications resulted in increases in both the frequency of transgenic founders and the number of transgenes per founder, significantly elevating the number of potential transgenic lines. Given its simplicity, versatility and high efficiency, TnT with enhanced Sleeping Beauty components represents a compelling non-viral approach to modifying the mammalian germline. PMID:20352328

  15. Long Term Follow-Up in Inferior Alveolar Nerve Transposition: Our Experience

    Directory of Open Access Journals (Sweden)

    Giulio Gasparini

    2014-01-01

    Full Text Available Introduction. Inferior alveolar nerve transposition (IANT is a surgical technique used in implantoprosthetic rehabilitation of the atrophic lower jaw which has not been well embraced because of the high risk of damage to the inferior alveolar nerve (IAN. There are cases in which this method is essential to obtain good morphologic and functional rebalancing of the jaw. In this paper, the authors present their experience with IANT, analyzing the various situations in which IANT is the only surgical preprosthetic option. Methods. Between 2003 and 2011, 35 patients underwent surgical IANT at our center. Thermal and physical sensitivity were evaluated in each patient during follow-up. The follow-up ranged from 14 to 101 months. Results and Conclusion. Based on our experience, absolute indications of IANT are as follows: (1 class IV, V, or VI of Cawood and Howell with extrusion of the antagonist tooth and reduced prosthetic free space; (2 class V or VI of Cawood and Howell with presence of interforaminal teeth; (3 class V or VI of Cawood and Howell if patient desires fast implantoprosthetic rehabilitation with predictable outcomes; (4 class VI of Cawood and Howell when mandibular height increase with inlay grafts is advisable.

  16. Obstruction of superior vena cava following the Mustard operation of transposition of great arteries

    International Nuclear Information System (INIS)

    Reich, O.; Tuma, S.; Skovranek, J.; Tax, P.; Ruth, C.; Hrobonova, V.; Hucin, B.; Samanek, M.

    1987-01-01

    The obstruction of the superior vena cava is a frequent late complication of the Mustard operation of the transposition of great arteries. Although it is asymptomatic, it threatens the patient as intracranial hypertension develops. Radionuclide angiocardiography can visualize the collateral blood flow from the obturated vena cava superior by the system of the azygos and hemiazygos veins into inferior vena cava. The benefit of this noninvasive method for screening obstruction was tested in a group of 94 patients. The obstruction of the vena cava superior was apparent in 11 patients (11.7%). In all cases, the diagnosis was confirmed by catheterization and angiocardiography. Pulsed Doppler echocardiography proved an abnormal flow in the vena cava superior in 9 patients. In other five patients with abnormal flow, obstruction was not revealed by radionuclide angiocardiography. Radionuclide angiocardiography supplements echocardiography also as regards other late complications and can be thus recommended for routine examinations of patients after the Mustard operation. (author). 1 fig., 1 tab., 16 refs

  17. Detection of caval obstruction by MR imaging in postoperative transposition of the great arteries

    International Nuclear Information System (INIS)

    Mazer, M.J.; Campbell, R.; Kulkani, M.; Graham, T.

    1986-01-01

    Vena caval obstruction may cause significant morbidity after atrial repair of transposition of the great arteries (TGA). The authors compared two noninvasive methods of diagnosing vena caval obstruction with cardiac catherization. Gated MR imaging and Doppler echography were performed in 14 patients with TGA (Mustard procedure performed in six patients, Senning procedure in six, imaging performed 0.5-13.5 years after operation). Complete superior (SVC) or inferior (IVC) vena caval occlusion or partial obstruction (≥ 5 mm Hg mean gradient from cava to systemic venous artium) was present at catheterization in seven of 14 patients. MR imaging directly displayed complete SVC obstruction in both patients with this catheterization-proved diagnosis. A dilated azygous-hemiazygous complex (≥ 5 mm in diameter) was seen on MR imaging in five of seven patients with complete or partial vena caval obstruction and in none of seven patients without obstruction. SVC dilation (ratio of SVC to aortic diameter, ≥ 1.45) was seen in three of five patients with and in none of seven patients without vena caval obstruction. Saline contrast echography, performed in 11 of 14 patients was positive in only two patients with complete SVC obstruction. Turbulent nonphasic flow in the systemic venous atrium was seen on Doppler echography in five of seven patients with and three of seven patients without vena caval obstruction. Thus, MR imaging and Doppler echography are fairly sensitive detectors of vena caval obstruction in postoperative TGA, but MR imaging has greater specificity

  18. Magnetic fabric transposition in folded granite sills in Variscan orogenic wedge

    Science.gov (United States)

    Závada, Prokop; Calassou, Thibaud; Schulmann, Karel; Hrouda, František; Štípská, Pavla; Hasalová, Pavlína; Míková, Jitka; Magna, Tomáš; Mixa, Petr

    2017-01-01

    New approach involving evaluation of anisotropy of magnetic susceptibility (AMS) data in stereoplots and Jelínek's Pj-T space, Vollmer's eigenvalue and microstructural analyses is proposed to discriminate between homogeneous and superposed deformation in granites. This method is used to decipher the internal AMS fabric and microstructural evolution of a folded array of granitic sills. The studied major sill shows a fabric and microstructural zonality marked by submagmatic and high-temperature Type I planar-linear fabric developed at sill margins, and the transpositional Type II subsolidus fabrics that formed at high to medium temperature deformation in the sill core. While Type I fabric is associated with dip slip magnetic lineations, Type II subsolidus fabrics are marked by subhorizontal magnetic lineations striking parallel to the long axis of the sill. The structural reconstruction of the fabrics in the granite and the host rocks as well as new U-Pb zircon ages suggest coeval emplacement of horizontal and vertical sills accounting for significant weakening of the host rock-magma multilayer. The model of folding of such multilayer and extrusion of residual magma parallel to axial planes is discussed with respect to structural record in other syn-contractional granite sill arrays forming sheeted plutons worldwide.

  19. Metabolic alterations and neurodevelopmental outcome of infants with transposition of the great arteries.

    Science.gov (United States)

    Park, I Sook; Yoon, S Young; Min, J Yeon; Kim, Y Hwue; Ko, J Kok; Kim, K Soo; Seo, D Man; Lee, J Hee

    2006-01-01

    Abnormal neurodevelopment has been reported for infants who were born with transposition of the great arteries (TGA) and underwent arterial switch operation (ASO). This study evaluates the cerebral metabolism of TGA infants at birth and before ASO and neurodevelopment 1 year after ASO. Proton magnetic resonance spectroscopy (1H-MRS) was performed on 16 full-term TGA brains before ASO within 3-6 days after birth. The brain metabolite ratios of [NAA/Cr], [Cho/Cr], and [mI/Cr] evaluated measured. Ten infants were evaluated at 1 year using the Bayley Scales of Infants Development II (BSED II). Cerebral metabolism of infants with TGA was altered in parietal white matter (PWM) and occipital gray matter (OGM) at birth before ASO. One year after ASO, [Cho/Cr] in PWM remained altered, but all metabolic ratios in OGM were normal. The results of BSID II at 1 year showed delayed mental and psychomotor development. This delayed neurodevelopmental outcome may reflect consequences of the altered cerebral metabolism in PWM measured by 1H-MRS. It is speculated that the abnormal hemodynamics due to TGA in utero may be responsible for the impaired cerebral metabolism and the subsequent neurodevelopmental deficit.

  20. Contemporary management and outcomes in congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Kutty, Shelby; Danford, David A; Diller, Gerhard-Paul; Tutarel, Oktay

    2018-01-11

    Congenitally corrected transposition of the great arteries (ccTGA) can occur in isolation, or in combination with other structural cardiac anomalies, most commonly ventricular septal defect, pulmonary stenosis and tricuspid valve disease. Clinical recognition can be challenging, so echocardiography is often the means by which definitive diagnosis is made. The tricuspid valve and right ventricle are on the systemic arterial side of the ccTGA circulation, and are therefore subject to progressive functional deterioration. The natural history of ccTGA is also greatly influenced by the nature and severity of accompanying lesions, some of which require surgical repair. Some management strategies leave the right ventricle as the systemic arterial pump, but carry the risk of worsening heart failure. More complex 'double switch' repairs establish the left ventricle as the systemic pump, and include an atrial baffle to redirect venous return in combination with either arterial switch or Rastelli operation (if a suitable ventricular septal defect permits). Occasionally, the anatomic peculiarities of ccTGA do not allow straightforward biventricular repair, and Fontan palliation is a reasonable option. Regardless of the approach selected, late cardiovascular complications are relatively common, so ongoing outpatient surveillance should be established in an age-appropriate facility with expertise in congenital heart disease care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  1. Transposition of cardinal ligaments for stages II–III uterine prolapse: A minimally invasive procedure

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    Mohamad K Ramadan

    2018-01-01

    Full Text Available Uterine and other pelvic organ prolapse (POP are becoming more frequently encountered due to increased life expectancy among menopausal women. Traditionally, most surgical procedures included hysterectomy as an integral part of the management. POP might, however, though less commonly, affect women not willing to accept hysterectomy, especially young females who did not complete their family. For these patients, uterine prolapse could be managed by a number of uterine-sparing surgical procedures that are performed through either abdominal or vaginal route according to patient's condition, surgeon's choice, and skills. Most of these operations, however, are usually lengthy, invasive, need good experience, and sometimes special accessories and instruments. We performed anterior transposition of the cardinal ligaments on two patients with POP quantification Stages II-III uterine prolapse without amputating the cervix. Both patients were interviewed at 6, 12, and 18-month intervals and reported no undue pain or dyspareunia with complete satisfaction regarding self-assessment of gynecologic anatomy. Furthermore, examination by the lead author revealed satisfactory anatomic correction. We recommend this simple, easy, and minimally invasive vaginal procedure to fellow gynecologists for repair of mild degrees of uterine prolapse in women declining hysterectomy or amputation of the cervix.

  2. Association of transposition of the great arteries in infants with maternal exposures to herbicides and rodenticides.

    Science.gov (United States)

    Loffredo, C A; Silbergeld, E K; Ferencz, C; Zhang, J

    2001-03-15

    The Baltimore-Washington Infant Study, a case-control study of congenital heart defects in liveborn infants conducted in 1981--1989, interviewed parents about a wide range of environmental exposures that occurred during and before the pregnancy. In the period 1987--1989, the questionnaire was expanded to include a detailed inquiry about exposures to pesticides. An analysis of these latter data revealed an association of maternal exposure to any pesticides during the first trimester with transposition of the great arteries in their infants (TGA; n = 66 infants), relative to 771 control infants, with an odds ratio of 2.0 (95% confidence interval (CI): 1.2, 3.3). No other heart defects were associated with pesticides. When analyzed by type of pesticide and adjusted for covariates, there were associations of TGA with maternal exposures to herbicides (odds ratio (OR) = 2.8; 95% CI: 1.3, 7.2) and to rodenticidal chemicals (OR = 4.7; 95% CI: 1.4, 12.1) but not to insecticides (OR = 1.5; 95% CI: 0.9, 2.6). No data were collected on specific chemicals or brand names. These results raise new questions about the possible epidemiologic association of TGA with some classes of pesticides and warrant new, carefully targeted investigations.

  3. Transactivation of Ds by Ac-transposase gene fusions in tobacco

    NARCIS (Netherlands)

    Rommens, Caius M.T.; Haaren, Mark J.J. van; Buchel, Annemarie S.; Mol, Joseph N.M.; Tunen, Arjen J. van; Nijkamp, H. John J.; Hille, Jacques

    1992-01-01

    To study regulation of the (Ds) transposition process in heterologous plant species, the transposase gene of Ac was fused to several promoters that are active late during plant development. These promoters are the flower-specific chalcone synthase A promoter (CHS A), the anther-specific chalcone

  4. Medial rotation deformity of the hip in cerebral palsy: Surgical treatment by transposition of gluteal muscles

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    Čobeljić Goran

    2005-01-01

    Full Text Available INTRODUCTION Medial rotation deformity of the hip is a problem to patients who are handicapped by cerebral palsy but able to walk, because the knees point inward during gait („kissing patellae" and cause falls and frequent injuries. Knees and ankles are subject to stress and, therefore, they assume compensating positions. Lower legs assume position of valgus and external rotation, whereas feet rotate either inwards or outwards. Secondary deformities make gait more difficult and cause rapid tear of footwear. AIM The purpose of the paper was to retrospectively analyze the effects of transposition of the gluteus medius and minimus muscles, a procedure introduced for the first time in our country in order to correct the deformity. A new method of binding the muscles by wire was described. There had been no previous experience with this method. METHOD This operation was indicated in patients with spastic form of cerebral palsy, who were able to walk, who had difficulties in gait and whose lateral rotation was less than 10° along with the medial rotation of over 70° of the hip on the side of the deformity. Additional prerequisite for the operation was the absence of flexion contracture of more than 15° of either the hip or the knee on the side of deformity, as there is possibility of aggravation of the flexion hip deformity due to transposed gluteal muscles (now in front of the hip joint. Fifteen hips of 10 patients were operated on. Five patients were operated on bilaterally at one time. The average age was 8 (6-12 years. The majority of patients, 8 (80% were aged between 6 and 8. The average follow-up was 5 years (3-8. The assessment of the results was based on the comparison of rotational abilities of both hips before and after the operation (in unilateral and bilateral deformities, as well as on individual complaints before and after the operation. In patients with unilateral deformity, their „healthy" hips were the control hips. The

  5. Comparative effectiveness of one-stage versus two-stage basilic vein transposition arteriovenous fistulas.

    Science.gov (United States)

    Ghaffarian, Amir A; Griffin, Claire L; Kraiss, Larry W; Sarfati, Mark R; Brooke, Benjamin S

    2018-02-01

    Basilic vein transposition (BVT) fistulas may be performed as either a one-stage or two-stage operation, although there is debate as to which technique is superior. This study was designed to evaluate the comparative clinical efficacy and cost-effectiveness of one-stage vs two-stage BVT. We identified all patients at a single large academic hospital who had undergone creation of either a one-stage or two-stage BVT between January 2007 and January 2015. Data evaluated included patient demographics, comorbidities, medication use, reasons for abandonment, and interventions performed to maintain patency. Costs were derived from the literature, and effectiveness was expressed in quality-adjusted life-years (QALYs). We analyzed primary and secondary functional patency outcomes as well as survival during follow-up between one-stage and two-stage BVT procedures using multivariate Cox proportional hazards models and Kaplan-Meier analysis with log-rank tests. The incremental cost-effectiveness ratio was used to determine cost savings. We identified 131 patients in whom 57 (44%) one-stage BVT and 74 (56%) two-stage BVT fistulas were created among 8 different vascular surgeons during the study period that each performed both procedures. There was no significant difference in the mean age, male gender, white race, diabetes, coronary disease, or medication profile among patients undergoing one- vs two-stage BVT. After fistula transposition, the median follow-up time was 8.3 months (interquartile range, 3-21 months). Primary patency rates of one-stage BVT were 56% at 12-month follow-up, whereas primary patency rates of two-stage BVT were 72% at 12-month follow-up. Patients undergoing two-stage BVT also had significantly higher rates of secondary functional patency at 12 months (57% for one-stage BVT vs 80% for two-stage BVT) and 24 months (44% for one-stage BVT vs 73% for two-stage BVT) of follow-up (P < .001 using log-rank test). However, there was no significant difference

  6. Population Trends in Prenatal Detection of Transposition of Great Arteries: Impact of Obstetrical Screening Ultrasound Guidelines.

    Science.gov (United States)

    Ravi, Prasad; Mills, Lindsay; Fruitman, Deborah; Savard, Winnie; Colen, Timothy; Khoo, Nee; Serrano-Lomelin, Jesus; Hornberger, Lisa K

    2017-04-24

    D-transposition of the great arteries (D-TGA) is one of the most common critical neonatal heart defects. Although there are clinical advantages to a prenatal diagnosis, D-TGA has had low prenatal detection internationally. Recent obstetrical ultrasound guidelines incorporating screening of cardiac outflows may improve prenatal detection of D-TGA. We sought to evaluate trends in the prenatal detection of D-TGA with/without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of enhanced ultrasound guidelines in 2009-2010 and 2013 and factors impacting detection. We retrospectively identified all fetuses and neonates with D-TGA +/- VSD encountered from 2003-2015 in the province of Alberta. Clinical records including obstetrical ultrasound reports were reviewed. From 2003-2015, 127 patients were encountered in Alberta with D-TGA, with 47 (37%) detected prenatally. Prenatal detection improved over the study period: 14% in 2003-2010, 50% in 2011-2013, and 77% in 2014-2015. Of 47 with a prenatal diagnosis, 14 with a VSD, indication for fetal echocardiography included abnormal or poorly visualized cardiac outflows with normal four chambers in 46 (98%). Twelve mothers had comorbidities, 5 representing an additional reason for fetal echo referral, and 4 fetuses had extracardiac pathology. Substantial improvements in the prenatal detection of D-TGA in Alberta over the past few years has occurred due to improved screening of cardiac outflows at routine obstetrical ultrasound in otherwise healthy pregnancies, suggesting that these guidelines contributed to optimized screening of affected pregnancies and has been temporally associated with changing ultrasound guidelines. This article is protected by copyright. All rights reserved.

  7. Head size at birth in neonates with transposition of great arteries and hypoplastic left heart syndrome.

    Science.gov (United States)

    Manzar, Shabih; Nair, Arun K; Pai, Mangalore G; Al-Khusaiby, Saleh M

    2005-03-01

    Appropriate fetal brain growth depends upon the cerebral blood flow (CBF). Different congenital heart defects (CHDs), due to the difference in anatomy and physiology, alter the intrauterine CBF. Thus, variable brain growth is expected in different CHDs that is reflected by variability in the head circumference (HC) at birth. The present study was carried out to compare the HC of babies born with transposition of great arteries (TGA) and hypoplastic left heart syndrome (HLHS) in comparison to normal control. The data on the HC of neonates with TGA and HLHS were extracted from the computer database then compared with the control group. During the period from January 1996 to December 2003, a total of 7396 neonates were admitted, out of which 639 (8.6%) were admitted with the diagnosis of the CHD. After correcting for gestational age and non-availability of HC measurements, 236 infants were excluded. Out of the remaining 403 term appropriate for gestational age (AGA) infants, 46 had TGA while 28 had HLHS. The control group comprised of a total of 74 term AGA infants. The mean HC for the control group was noted to be 34.4 +/- 1.7 centimeters (cms), 33.7 +/- 1.5 cms for TGA while it was 32.9 +/- 1.3 cms for HLHS. The head size at birth for newborn with HLHS was significantly smaller than the TGA (p=0.03) and control group (p=0.001). Similarly, HC of TGA group was significantly smaller than the control group (p=0.02). The newborns with TGA and HLHS are found to have significantly small head size at birth. The clinical significance of this finding with respect to the neurodevelopmental outcome and value of early antenatal intervention to repair these defects remains to be evaluated in further studies.

  8. Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

    Science.gov (United States)

    Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

    2015-01-01

    Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

  9. Long-term tinnitus suppression with linear octave frequency transposition hearing AIDS.

    Directory of Open Access Journals (Sweden)

    Elisabeth Peltier

    Full Text Available Over the last three years of hearing aid dispensing, it was observed that among 74 subjects fitted with a linear octave frequency transposition (LOFT hearing aid, 60 reported partial or complete tinnitus suppression during day and night, an effect still lasting after several months or years of daily use. We report in more details on 38 subjects from whom we obtained quantified measures of tinnitus suppression through visual analog scaling and several additional psychoacoustic and audiometric measures. The long-term suppression seems independent of subject age, and of duration and subjective localization of tinnitus. A small but significant correlation was found with audiogram losses but not with high frequency loss slope. Long-term tinnitus suppression was observed for different etiologies, but with a low success rate for sudden deafness. It should be noted that a majority of subjects (23 had a history of noise exposure. Tinnitus suppression started after a few days of LOFT hearing aid use and reached a maximum after a few weeks of daily use. For nine subjects different amounts of frequency shifting were tried and found more or less successful for long-term tinnitus suppression, no correlation was found with tinnitus pitch. When the use of the LOFT hearing aid was stopped tinnitus reappeared within a day, and after re-using the LOFT aid it disappeared again within a day. For about one third of the 38 subjects a classical amplification or a non linear frequency compression aid was also tried, and no such tinnitus suppression was observed. Besides improvements in audiometric sensitivity to high frequencies and in speech discrimination scores, LOFT can be considered as a remarkable opportunity to suppress tinnitus over a long time scale. From a pathophysiological viewpoint these observations seem to fit with a possible re-attribution of activity to previously deprived cerebral areas corresponding to high frequency coding.

  10. Impact of pacing on systemic ventricular function in L-transposition of the great arteries.

    Science.gov (United States)

    Hofferberth, Sophie C; Alexander, Mark E; Mah, Douglas Y; Bautista-Hernandez, Victor; del Nido, Pedro J; Fynn-Thompson, Francis

    2016-01-01

    To assess the impact of univentricular versus biventricular pacing (BiVP) on systemic ventricular function in patients with congenitally corrected transposition of the great arteries (ccTGA). We performed a retrospective review of all patients with a diagnosis of ccTGA who underwent pacemaker insertion. From 1993 to 2014, 53 patients were identified from the cardiology database and surgical records. Overall mortality was 7.5% (n = 4). One patient required transplantation and 3 late deaths occurred secondary to end-stage heart failure. Median follow-up was 3.7 years (range, 4 days to 22.5 years). Twenty-five (47%) underwent univentricular pacing only, of these, 8 (32%) developed significant systemic ventricular dysfunction. Twenty-eight (53%) received BiVP, 17 (26%) were upgraded from a dual-chamber system, 11 (21%) received primary BiVP. Fourteen (82%) of the 17 undergoing secondary BiVP demonstrated systemic ventricular dysfunction at the time of pacer upgrade, with 7 (50%) demonstrating improved systemic ventricular function after pacemaker upgrade. Overall, 42 (79%) patients underwent univentricular pacing, with 22 (52%) developing significant systemic ventricular dysfunction. In contrast, the 11 (21%) who received primary BiVP had preserved systemic ventricular function at latest follow-up. Late-onset systemic ventricular dysfunction is a major complication associated with the use of univentricular pacing in patients with ccTGA. All patients with ccTGA who develop heart block should undergo primary biventricular pacing, as this prevents late systemic ventricular dysfunction. Preemptive placement of BiVP leads at the time of anatomical repair or other permanent palliative procedure will facilitate subsequent BiVP should heart block develop. Copyright © 2016 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  11. Masseteric-facial nerve transposition for reanimation of the smile in incomplete facial paralysis.

    Science.gov (United States)

    Hontanilla, Bernardo; Marre, Diego

    2015-12-01

    Incomplete facial paralysis occurs in about a third of patients with Bell's palsy. Although their faces are symmetrical at rest, when they smile they have varying degrees of disfigurement. Currently, cross-face nerve grafting is one of the most useful techniques for reanimation. Transfer of the masseteric nerve, although widely used for complete paralysis, has not to our knowledge been reported for incomplete palsy. Between December 2008 and November 2013, we reanimated the faces of 9 patients (2 men and 7 women) with incomplete unilateral facial paralysis with transposition of the masseteric nerve. Sex, age at operation, cause of paralysis, duration of denervation, recipient nerves used, and duration of follow-up were recorded. Commissural excursion, velocity, and patients' satisfaction were evaluated with the FACIAL CLIMA and a questionnaire, respectively. The mean (SD) age at operation was 39 (±6) years and the duration of denervation was 29 (±19) months. There were no complications that required further intervention. Duration of follow-up ranged from 6-26 months. FACIAL CLIMA showed improvement in both commissural excursion and velocity of more than two thirds in 6 patients, more than one half in 2 patients and less than one half in one. Qualitative evaluation showed a slight or pronounced improvement in 7/9 patients. The masseteric nerve is a reliable alternative for reanimation of the smile in patients with incomplete facial paralysis. Its main advantages include its consistent anatomy, a one-stage operation, and low morbidity at the donor site. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  12. Surgical treatment of the concomitant pathology in corrected transposition of great arteries

    Directory of Open Access Journals (Sweden)

    O.Ye. Repin

    2016-03-01

    Full Text Available The aim – to analyze our experience in the treatment of patients with congenitally corrected transposition of great arteries (CCTGA. Materials and methods. Thirty-nine patients with CCTGA (0.7 %, age from 4 months to 48 years, were observed since 1995 to 2014. Insufficiency of the tricuspid valve was diagnosed in 7 patients, ventricular septal defect (VSD – in 12, III degree AV blockade – in 5 patients (in 4 cases – primary AV blockade and in one case – after VSD repair, insufficiency of mitral valve – in 3 cases (in one of them as a result of bacterial endocarditis after implantation of the endocardial electrode, pulmonary stenosis – in 5. Rezults. Totally 24 surgeries were performed: correction of systemic valve insufficiency – in 6 patients (plastics – in 4 of them and prosthesis in 2 patients, VSD plastics – 9, pacemaker implantation – 4, mitral valve plastics – 2, pulmonary artery banding – 2, bidirectional Glenn – 1. Surgeries were performed without lethal outcomes. Patients were observed from 8 months till 14 years. Adequate correction of all associated pathology was achieved in all patients. Concerning the progressing of tricuspid valve insufficiency, replacement of it was done in 3 cases. Medical treatment of the progressive heart failure was prescribed to 48 years-old patient. Conclusion. The submitted material confirms the data regarding high risk of the development of AV blockade, tricuspid valve insufficiency, as well as right ventricular failure during 4–5th decade of life. Early revealing and adequate correction of accompanying defects and developing complications allows to achieve satisfactory immediate and long-term results.

  13. Aorto-Right Ventricular Tunnel in Transposition of the Great Arteries

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    Antonio F. Corno

    2018-02-01

    Full Text Available Aorto-ventricular tunnel is an extremely rare congenital heart defect, consisting of failure of attachment of an aortic leaflet along the semilunar hinge. In all published reports the leaflet involved was either the right coronary leaflet, most frequently, or the left coronary leaflet, in most of the cases opening toward the left ventricle, with only one-eighth of the reported cases communicating with the right ventricle. Treatment of the aorto-ventricular tunnel has been anecdotally reported by interventional closure with a device and more frequently with surgical approach, either as an isolated malformation or as associated lesions. To the best of our knowledge, the presence of an aorto-ventricular tunnel of the non-adjacent aortic leaflet in transposition of the great arteries has never been reported. We have observed an aorto-ventricular tunnel involving the non-adjacent leaflet of the aortic root, which after arterial switch became the pulmonary root. The patient presented 18 years after the arterial switch with progressive dilatation of the right ventricle due to severe degree of pulmonary valve regurgitation, confirmed by echocardiography and cardiac MRI. Indication for surgery was given with the plan for a pulmonary valve implantation. Because of the intra-operative finding of disconnection of the anterior leaflet of the pulmonary valve (former aortic valve along the semilunar hinge, the surgical plan was modified and the anterior leaflet was attached to the valve annulus, with subsequent plasty in correspondence with the right and left commissurae to reduce the size of the dilated annulus to normal diameter. The post-operative course was uneventful, with extubation after few hours and discharge 4 days after surgery, with echocardiography showing trivial degree of pulmonary valve regurgitation. The patient remains in good conditions 6 months after surgery.

  14. Double Augmented Vertical Rectus Transposition for Large-Angle Esotropia Due to Sixth Nerve Palsy.

    Science.gov (United States)

    Singh, Priyanka; Vijayalakshmi, Perumalsamy; Shetty, Shashikant; Vora, Priyanka; Kalwaniya, Suresh

    2016-11-01

    To study the binocular alignment and ocular motility in patients with large-angle esotropia due to sixth nerve palsy treated with double augmented vertical recti transposition. This was a prospective interventional study. Fifteen patients with non-resolving sixth nerve palsy who underwent surgical correction were included in the study. Fourteen patients also underwent an additional medial rectus recession. Two patients with an associated small vertical deviation had a selective augmentation of one vertical rectus muscle. Binocular alignment, ocular motility, duction limitation, improvement in head posture, induced vertical deviations, and field of diplopia-free binocular single vision (when possible) were analyzed. Successful outcome was defined as a residual horizontal deviation of 10 prism diopters (PD) or less with no vertical deviation at final follow-up (6 months). The double augmented Hummelsheim procedure improved esotropia from 58.3 ± 10.8 PD preoperatively to 7.2 ± 5.1 PD postoperatively (P = .001). Three (20%) patients had residual deviation of greater than 10 PD, of which 1 patient had diplopia and was treated with prisms. Postoperative binocular field of vision was performed in 6 patients, the mean of which was 20° for abduction and 45° for adduction. Three of 6 patients had elimination of face turn and the rest had residual head posture of less than 5°. Two patients had an induced vertical deviation of less than 4 PD. In patients who had selective augmentation, the vertical deviation was completely corrected. The patients operated on with double augmentation of the Hummelsheim procedure combined with medial rectus recession had reduced mean primary esotropia and improved diplopia-free field of vision postoperatively. [J Pediatr Ophthalmol Strabismus. 2016;53(6):369-374.]. Copyright 2016, SLACK Incorporated.

  15. Augmented superior rectus transposition procedure in Duane retraction syndrome compared with sixth nerve palsy.

    Science.gov (United States)

    Akbari, Mohammadreza; Shomali, Setareh; Mirmohammadsadeghi, Arash; Fard, Masoud Aghsaei

    2018-01-03

    Superior rectus transposition (SRT) with medial rectus recession has been used for the treatment of sixth nerve palsy and esotropic Duane retraction syndrome (DRS). The purpose of this study was to compare the results of augmented SRT (with scleral fixation) without medial rectus recession in DRS and sixth nerve palsy. Patients with unilateral esotropic DRS (DRS group) and sixth nerve palsy were included in this prospective, comparative study and underwent SRT. Preoperative forced duction testing was negative or slightly positive in both groups. Prospective measurements were compared between the two groups. There were 11 patients in the DRS group and 11 patients in the sixth nerve palsy group. The mean preoperative esotropia decreased from 20.9 ± 6.0 prism diopter (PD) at far to 13.2 ± 5.8 PD in the DRS group (P = 0.003). The same measurement improved from 28.0 ± 8.5 PD to 8.4 ± 7.3 PD in the sixth nerve palsy group (P = 0.003). In the sixth nerve palsy group, the improvement in primary gaze esotropia and abnormal head posture was more than the DRS group (Both P sixth nerve palsy group. Although objective intorsion was significantly induced after SRT, subjective torsion was not significant after surgery in both groups. SRT appears to be more effective in improving primary gaze deviation and head posture in sixth nerve palsy compared with DRS. Subjective torsional and vertical diplopia were rare in both groups.

  16. Derepression of the plant Chromovirus LORE1 induces germline transposition in regenerated plants.

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    Eigo Fukai

    2010-03-01

    Full Text Available Transposable elements represent a large proportion of the eukaryotic genomes. Long Terminal Repeat (LTR retrotransposons are very abundant and constitute the predominant family of transposable elements in plants. Recent studies have identified chromoviruses to be a widely distributed lineage of Gypsy elements. These elements contain chromodomains in their integrases, which suggests a preference for insertion into heterochromatin. In turn, this preference might have contributed to the patterning of heterochromatin observed in host genomes. Despite their potential importance for our understanding of plant genome dynamics and evolution, the regulatory mechanisms governing the behavior of chromoviruses and their activities remain largely uncharacterized. Here, we report a detailed analysis of the spatio-temporal activity of a plant chromovirus in the endogenous host. We examined LORE1a, a member of the endogenous chromovirus LORE1 family from the model legume Lotus japonicus. We found that this chromovirus is stochastically de-repressed in plant populations regenerated from de-differentiated cells and that LORE1a transposes in the male germline. Bisulfite sequencing of the 5' LTR and its surrounding region suggests that tissue culture induces a loss of epigenetic silencing of LORE1a. Since LTR promoter activity is pollen specific, as shown by the analysis of transgenic plants containing an LTR::GUS fusion, we conclude that male germline-specific LORE1a transposition in pollen grains is controlled transcriptionally by its own cis-elements. New insertion sites of LORE1a copies were frequently found in genic regions and show no strong insertional preferences. These distinctive novel features of LORE1 indicate that this chromovirus has considerable potential for generating genetic and epigenetic diversity in the host plant population. Our results also define conditions for the use of LORE1a as a genetic tool.

  17. Myocardial imaging in patients with transposition of the great arteries. Comparison between Mustard and Rastelli operations

    Energy Technology Data Exchange (ETDEWEB)

    Ono, Yasuo; Tanimoto, Takeshi (National Cardiovascular Center, Suita, Osaka (Japan)); Kohata, Tohru

    1982-12-01

    Thallium-201 myocardial imaging was performed in 21 patients with transposition of the great arteries (TGA). In the 13 patients with preoperative TGA, it was possible to differentiate TGA with the intact ventricular septum from TGA with associated anomalies such as patent ductus arteriosus or ventricular septal defect, and also TGA with pulmonary hypertension or pulmonary stenosis from TGA without them by evaluating the degree of thallium uptake in the free wall of the pulmonary ventricle (anatomical left ventricle). The degree of thallium uptake was well correlated with systolic pressure of the pulmonary ventricle (r = 0.98). In the 13 patients with postoperative TGA, it was less correlated with the pulmonary ventricular systolic pressure (r = 0.83). Four cases sequentially studied showed a marked decrease in thallium uptake in the pulmonary ventricle 10 to 16 months after Rastelli operation. But the corrected thallium uptake (thallium activity/ventricular systolic pressure) was more increased compared with the uptake of the systemic ventricle after the surgery. This was probably related to a decrease of the pressure load to the pulmonary ventricle following the surgery and to the fact that there should be some delay of a decrease of the ventricular mass. An increased lung uptake of thallium was noted in the cases of tricuspid regurgitation after Mustard operation, but the degree of regurgitation was not clearly correlated with the increase of thallium uptake in the lung. In five cases after Rastelli operation, one patient showed a high degree of thallium uptake of the pulmonary ventricle (anatomical right ventricle), and the conduit valve calcification and severe pulmonary stenosis were confirmed by cardiac catheterization and angiography. Thus myocardial imaging provides a reliable means for the qualitative and quantitative assessment of TGA before and after operation.

  18. Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

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    Amati Francesca

    2010-09-01

    Full Text Available Abstract Background Congenital heart defect (CHD account for 25% of all human congenital abnormalities. However, very few CHD-causing genes have been identified so far. A promising approach for the identification of essential cardiac regulators whose mutations may be linked to human CHD, is the molecular and genetic analysis of heart development. With the use of a triple retinoic acid competitive antagonist (BMS189453 we previously developed a mouse model of congenital heart defects (81%, thymic abnormalities (98% and neural tube defects (20%. D-TGA (D-transposition of great arteries was the most prevalent cardiac defect observed (61%. Recently we were able to partially rescue this abnormal phenotype (CHD were reduced to 64.8%, p = 0.05, by oral administration of folic acid (FA. Now we have performed a microarray analysis in our mouse models to discover genes/transcripts potentially implicated in the pathogenesis of this CHD. Results We analysed mouse embryos (8.5 dpc treated with BMS189453 alone and with BMS189453 plus folic acid (FA by microarray and qRT-PCR. By selecting a fold change (FC ≥ ± 1.5, we detected 447 genes that were differentially expressed in BMS-treated embryos vs. untreated control embryos, while 239 genes were differentially expressed in BMS-treated embryos whose mothers had also received FA supplementation vs. BMS-treated embryos. On the basis of microarray and qRT-PCR results, we further analysed the Hif1α gene. In fact Hif1α is down-regulated in BMS-treated embryos vs. untreated controls (FCmicro = -1.79; FCqRT-PCR = -1.76; p = 0.005 and its expression level is increased in BMS+FA-treated embryos compared to BMS-treated embryos (FCmicro = +1.17; FCqRT-PCR = +1.28: p = 0.005. Immunofluorescence experiments confirmed the under-expression of Hif1α protein in BMS-treated embryos compared to untreated and BMS+FA-treated embryos and, moreover, we demonstrated that at 8.5 dpc, Hif1α is mainly expressed in the embryo heart

  19. Orthodontic management of bilateral maxillary canine-first premolar transposition and bilateral agenesis of maxillary lateral incisors: a case report

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    Elena Di Palma

    2015-04-01

    Full Text Available INTRODUCTION: Maxillary canine-first premolar transposition (Mx.C.P1 is an uncommon dental positional anomaly that may create many orthodontic problems from both esthetic and functional points of view. OBJECTIVE: In this report we show the orthodontic management of a case of Mx.C.P1 associated with bilateral maxillary lateral incisor agenesis and unilateral mandibular second premolar agenesis METHODS: The patient was treated with a multibracket appliance and the extraction of the lower premolar. RESULTS: treatment was completed without the need for any prosthetic replacement.

  20. [Transposition of the great arteries. A follow-up of patients operated on with atrial correction].

    Science.gov (United States)

    Moreno, F; Hiraldo, M E; Cordero, N S; González, L M; Zamora, M; Madero, R; Benito, F; Cabo, J; Alvarez, F

    1992-02-01

    The late results of 146 patients with transposition of the great arteries (simple: 119, complex: 27) surviving to physiological correction (Mustard: 33, Senning: 113) are analyzed. The mean age at operation was 27 months (1-120), and the mean follow-up was 78 months (6-187). The mean P wave voltage significantly decreased (from 0.3 mV preoperatively to 0.16 mV postoperatively). Frontal mean P wave axis varied from 63.9 degrees to 71.3 degrees. Mean heart rate were significantly lower than those for age-matched normal children. Previous atrioseptectomy had been performed in 36 patients and five of them had arrhythmias before operation. 78 (55%) out of the remaining 141 showed arrhythmias in the surface ECG: sinus node disfunction in 51, tachyarrhythmias in eight, atrioventricular block in eight and several association of arrhythmias in 11. Actuarial survival free of arrhythmias is 81% at the first year, 49% at 5 years and 22% at 15 years. The incidence of arrhythmias in the group of 92 patients with Holter monitoring was higher, with 73 cases having arrhythmias (79%): sinus node disfunction in 47, tachyarrhythmias in ten, atrioventricular block in four and associated in 12. Survival free of arrhythmias by both methods (ECG and Holter) shows a 78% at the first year, 28% at 5 years and 5.6% at 15 years. No significant correlation was found between the incidence of arrhythmias and the type of TGA (simple or complex) or the surgical technique (Mustard or Senning). Permanent pacemakers were implanted in seven to a mean follow-up of 7 years. Five patients were reoperated to a mean follow-up of 46 months. There were 7 late deaths to a mean follow-up of 13 months, four of them being sudden. The actuarial survival rate for the whole group was 93.5% at 15 years. No significant correlation was found between the late mortality and the type of TGA or operation. There was also no correlation with the incidence of arrhythmias. Residual lesions were found in 46 patients

  1. Transposición corregida de grandes vasos Corrected transposition of the great arteries

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    José Rafael Escalona Aguilera

    2012-09-01

    Full Text Available Se presenta una paciente de sexo femenino, de 9 años de edad, que acude a su médico de familia y se le auscultó un soplo al examen físico y sintomatología que se comportaba como una comunicación interventricular. Luego de los estudios correspondientes, se permitió hacer el diagnóstico de transposición corregida de grandes vasos. La paciente tenía asociada una anomalía de Ebstein, comunicación interauricular, una comunicación interventricular, y una persistencia del conducto arterioso, todo lo cual agravaba su cuadro clínico. Primero es intervenida quirúrgicamente, y se cierra el ducto; de manera espontánea, cierra la comunicación interauricular, y la anomalía de Ebstein parchea la comunicación interventricular. La niña desarrolla una insuficiencia cardiaca e hipertensión pulmonar, a consecuencia de las anomalías asociadas. El caso es de interés, ya que son pocos los publicados en la literatura internacional con esta cardiopatía congénita asociada a otras anomalías estructurales del corazón, que modifican su historia natural.This paper presented a 9 years-old female patient, who went to the family's doctor and was physically examined to detect heart murmur and symptoms of ventricular septal defect. After the corresponding studies, the diagnosis was the corrected transposition of the great arteries. The patient also suffered Ebstein anomaly, atrial septal defect, ventricular septal defect and persistence of arteriose duct, all of which worsened her clinical picture. First, she was operated on and the duct was closed. Later the atrial septal defect closed spontaneously, and the Ebstein anomaly patched the ventricular septal defect. The girl developed heart failure and pulmonary hypertension, as a result of associated anomalies. The case is interesting since few cases like this one, associated with other structural heart anomalies that change its natural course, are presented in the international literature.

  2. Clinical features and surgical outcomes of complete transposition of the great arteries

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    Suk Jin Hong

    2012-10-01

    Full Text Available &lt;B&gt;Purpose:&lt;/B&gt; This single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA. &lt;B&gt;Methods:&lt;/B&gt; TGA patients who had undergone surgical correction at the Kyungpook National University Hospital from January 2000 to December 2010, were retrospectively evaluated for patient characteristics, clinical manifestation, preoperative management, intraoperative findings, postoperative progress, and follow-up status. &lt;B&gt;Results:&lt;/B&gt; Twenty-eight patients (17 boys and 11 girls, mean age= 10.6±21.5 days were included and were categorized as follows: group I, TGA with intact ventricular septum (n=13; group II, TGA with ventricular septal defect (VSD, n=12; and group III, TGA/VSD with pulmonary stenosis (n=3. Group I underwent the most intensive preoperative management (balloon atrial septostomy and prostaglandin E1 medication. Group II showed the highest incidence of heart failure (P&lt;0.05. Usual and unusual coronary anatomy patterns were observed in 20 (71% and 8 patients, respectively. Arterial and half-turned truncal switch operations were performed in 25 and 3 patients (Group III, respectively. Postoperative complications included cardiac arrhythmias (8 patients, central nervous system complications (3 patients, acute renal failure (1 patient, infections (3 patients, and cardiac tamponade (1 patient, and no statistically significant difference was observed between the groups. Group II showed the mildest aortic regurgitation on follow-up echocardiograms (P&lt;0.05. One patient underwent reoperation, and 1 died. The overall mortality rate was 4%. &lt;B&gt;Conclusion:&lt;/B&gt; Our study showed favorable results in all the groups and no significant difference in postoperative complication, reoperation, and mortality among the groups. However, our results were

  3. Transposition of the basic safety standards. Potential impact on French laws and regulations

    Energy Technology Data Exchange (ETDEWEB)

    Godet, J.L.; Perrin, M.M.; Saad, N.; Bardelay, C. [Autorite de Surete Nucleaire (ASN), Paris (France)

    2013-07-01

    The new proposal for a Council Directive laying down basic safety standards for protection against the dangers arising from exposure to ionising radiation is about to be adopted. Member States shall bring into force the laws, regulations and administrative provisions necessary to comply with this Directive within 4 years after adoption of the final text. As far as France is concerned, these evolutions will mainly impact the labour code (for occupational issues) and the public health code for both legal and regulatory requirements. The most significant improvements of the current version of the project are the introduction of graded approach to regulatory control and the enhancement of requirements for protection against natural radiation sources (in particular exposure to radon and naturally occurring radioactive material). This project also aims at achieving a better harmonisation between Member States for topics such as the organization of radiation protection for workers, the justification of medical devices and non-medical imaging exposure situations. ASN has already identified major issues for the transposition of the Directive concerning both French laws and regulations. Main topics should concern the impact of ICRP terminology (planned exposure situation, existing exposure situation versus lasting exposure situation, reference level versus maximum activity level for exposure to radon..) and the extension of both justification and optimisation principles to new activities involving natural radiation sources, such as industries processing naturally occurring radioactive material. Furthermore, France will have to decide whether it will adjust some positions about the prohibition of nonmedical imaging exposures and the release of materials from regulatory control according to generic values. Indeed, the project mentions the possibility to introduce derogations to those major principles. Finally, and according to the graded approach, the project introduces a new

  4. Transposition of Alchornea castaneifolia (Willd. A. Juss. Seedlings from natural regeneration as a strategy for saplings production in nursery

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    Sheilly Raquelly Prado de Paula

    2013-06-01

    Full Text Available Alchornea castaneifolia (Willd. A. Juss. (Urana is a native species with potential for restoration of riparian vegetation and urban forestry. Given the difficulty of its propagation and the lack of knowledge about their behavior in nursery, this study aimed to evaluate the transposition of Alchornea castaneifolia from natural regeneration as a strategy for saplings production in nursery. The collecting took place in Porto Acre – AC, and selected 120 seedlings, which were divided into three height classes (15 cm and cultivated in four substrates (soil, sand, wasting açaí+soil, Plantmax in a completely randomized design in a 3x4 factorial design. We investigated the survival of seedlings and the growth in sand substrate to the characteristics height (H and collar diameter (DC, the relationship H/DC, dry mass of shoots, roots and total between the three height classes of the seedlings. The highest percentage of Alchornea castaneifolia seedlings survival was observed in the sand substrate (67%, followed by the wasting açaí+soil substrate (43%. Seedlings that showed greater growth in height, collar diameter and dry mass production were contained in the class above 15 cm in sand substrate. However, the 10-15 cm class of height presented 100% survival of seedlings in sand substrate and also provided high growth. It is therefore recommended the transposition of seedling in the 10-15 cm class using sand substrate for the propagation of Alchornea castaneifolia in nursery.

  5. Engineering the transposition-based baculovirus expression vector system for higher efficiency protein production from insect cells

    Science.gov (United States)

    Mehalko, Jennifer L.; Esposito, Dominic

    2016-01-01

    One of the most common methods for producing recombinant baculovirus for insect cell protein production involves a transposition mediated system invented over 2 decades ago. This Tn7-mediated system, commercially sold as Bac-to-Bac, has proven highly useful for construction of high quality baculovirus, but suffers from a number of drawbacks which reduce the efficiency of the process and limit its utility for high throughput protein production processes. We describe here the creation of Bac-2-the-Future, a 2nd generation Tn7-based system for recombinant baculovirus production which uses optimized expression vectors, new E. coli strains, and enhanced protocols to dramatically enhance the efficiency of the baculovirus production process. The new system which we describe eliminates the need for additional screening of positive clones, improves the efficiency of transposition, and reduces the cost and time required for high throughput baculovirus production. The system is compatible with multiple cloning methodologies, and has been demonstrated to produce baculovirus with equal or better titer and protein productivity than the currently available systems. PMID:27616621

  6. Vitality of intact teeth anterior to the mental foramen after inferior alveolar nerve repositioning: nerve transpositioning versus nerve lateralization.

    Science.gov (United States)

    Khajehahmadi, S; Rahpeyma, A; Bidar, M; Jafarzadeh, H

    2013-09-01

    The aim of the present study was to compare two methods used in inferior alveolar nerve (IAN) repositioning to evaluate their effect on the vitality of intact teeth anterior to the mental foramen. Nerve lateralization (NL) is defined as the lateral reflection of the IAN without incisive nerve transection; nerve transposition (NT) involves sacrifice of the incisive nerve. Twenty-one patients were included in this study. Vitality tests for the teeth anterior to the mental foramen, including pulse oximetry and electric pulp testing, were evaluated at 1 week prior to surgery and at 1 week, 1, 3, 6, and 12 months after surgery. Lower lip and chin neurosensory changes were also recorded at the same time intervals by static light touch test with a cotton-tipped applicator and two-point discrimination test with sharp callipers. Vitality tests were negative after the operation in the NT group, while all had normal values at 1 week prior to the operation. In the NL group, only two patients (20%) had negative test results at 1 week after surgery. Lip and chin neurosensory changes in the total transpositions (28 operations) were seen in 7.1% at 1 year after the operation. It appears that NL is a more physiological procedure than NT. Copyright © 2013 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. Comparison of anterior subcutaneous and submuscular transposition of ulnar nerve in treatment of cubital tunnel syndrome: A prospective randomized trial

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    Abolghassem Zarezadeh

    2012-01-01

    Full Text Available Background: This study was designed to compare two methods of surgery, anterior subcutaneous transposition (ASCT and anterior submuscular transposition (ASMT of the ulnar nerve in treatment of cubital tunnel syndrome. Materials and Methods: This randomized trial study was conducted from October 2008 to March 2009 in the Department of Orthopedic Surgery at University Hospital. Forty-eight patients with confirmed cubital tunnel syndrome were randomized in two groups, and each patient received one of two different surgical treatment methods, either ASCT (n = 24 or ASMT (n = 24. In the ASCT technique, the ulnar nerve was transposed and retained in the subcutaneous bed, whereas in the ASMT, the nerve was retained deep in the transected muscular complex, near the median nerve. Patient outcomes, including pain, sensation, muscle strength, and muscle atrophy were compared between groups. Results: The two groups were similar in baseline characteristics. However, those treated with ASMT had a statistically significant reduction in their pain levels compared with ASCT (21 (87.5% vs 8 (33.3%, P 0.05. Conclusions: Our results indicate that ASMT are more efficient than ASCT for managing cubital tunnel syndrome. In patients who had ASMT, there were significant reductions of pain compared with ASCT.

  8. Rescue history of Local Residents Perception in Relation to Piumhi River Transposition into Rio São Francisco

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    André Tomé de Assis

    2015-06-01

    Full Text Available Piumhi river was a tributary of Grande river until the late 50s. The Furnas reservoir construction has reversed Piumhi river to São Francisco river through a canal and a dam in Capitólio city (MG. The aim of this study was to record the perception that local people had on the river Piumhi transposition by means of newspapers, books, documents and interviews using the life history technique. Different perceptions were evident in the interviews, depending on the geographic region where the subjects lived. In Capitólio, besides the dike, the most striking fact was the flooding of the Furnas reservoir, affecting the rural area. Between Capitólio and the beginning of rural Piumhi, where the transposition channels are, the most striking fact was the change of the riverbed and the floodplain. Near the town of Piumhi, where there was a marsh that reached to the urban zone, the drainage of the flooded area transformed into arable land caused land conflicts. The record of the population's perception demonstrates social conflicts, economic and environmental impacts generated by the change in the landscape, recording how people felt and dealt with the facts in their lives.

  9. Nature of unstable insertional mutations and reversions at the cut locus of Drosophila melanogaster: Molecular mechanism for transpositional memory

    International Nuclear Information System (INIS)

    Mizrokhi, L.Yu.; Georgieva, S.G.; Obolenkova, L.A.; Priimyagi, A.F.; Gerasimova, T.I.; Il'in, Yu.V.

    1988-01-01

    A segment of the cut locus containing an mdg4 insertion as a result of ct MR and ct MRp10 mutations was cloned. Clones were obtained for the phenotypically different ct MR2 and ct MRpN10 mutants and for stable and unstable revertants. All mutations studied are associated with mdg4 insertion at an identical nucleotide sequence of the cut locus, the same site at which mdg4 is inserted at the ct 6 allele. The ct MRpN line differs from ct MR2 in that the mobile element jockey (3 kbp) is inserted in mdg4. Jockey is represented by about 1,000 copies per genome; it is homogeneous and lacks long terminal repeats (LTRs). In stable ct + reversions, mdg4 is completely excised. In unstable ct + reversions, in which there is a high degree of reverse directed transposition of mdg4 to the cut locus, an LTR of mdg4 is preserved at the site of the mutation. It is a sequence along which new copies of mdg4 or jockey-containing mdg4 are inserted into the genome. The authors discuss a molecular mechanism for transpositional memory involving homologous recombination of the remnant LTR and circular extrachromosomal copies of mdg4

  10. Genetic Analysis of a Gene Cluster for Cyclohexanol Oxidation in Acinetobacter sp. Strain SE19 by In Vitro Transposition

    OpenAIRE

    Cheng, Qiong; Thomas, Stuart M.; Kostichka, Kristy; Valentine, James R.; Nagarajan, Vasantha

    2000-01-01

    Biological oxidation of cyclic alcohols normally results in formation of the corresponding dicarboxylic acids, which are further metabolized and enter the central carbon metabolism in the cell. We isolated an Acinetobacter sp. from an industrial wastewater bioreactor that utilized cyclohexanol as a sole carbon source. A cosmid library was constructed from Acinetobacter sp. strain SE19, and oxidation of cyclohexanol to adipic acid was demonstrated in recombinant Escherichia coli carrying a SE1...

  11. Reoperation for right ventricular outflow tract obstruction after arterial switch operation for transposition of the great arteries and aortic arch obstruction

    NARCIS (Netherlands)

    Bokenkamp, Regina; Aguilar, Elizabeth; van der Palen, Roel L. F.; Sojak, Vladimir; Bruggemans, Eline F.; Hruda, Jaroslav; Kuipers, Irene M.; Hazekamp, Mark G.

    2016-01-01

    Right ventricular outflow tract obstruction (RVOTO) is one of the reasons for late reinterventions after repair of transposition of the great arteries (TGA) with aortic arch obstruction (AAO). The aim of the present study was to identify predictors of reoperation for RVOTO in patients who underwent

  12. Tissue culture-induced transpositional activity of mPing is correlated with cytosine methylation in rice

    Directory of Open Access Journals (Sweden)

    Pang Jinsong

    2009-07-01

    Full Text Available Abstract Background mPing is an endogenous MITE in the rice genome, which is quiescent under normal conditions but can be induced towards mobilization under various stresses. The cellular mechanism responsible for modulating the activity of mPing remains unknown. Cytosine methylation is a major epigenetic modification in most eukaryotes, and the primary function of which is to serve as a genome defense system including taming activity of transposable elements (TEs. Given that tissue-culture is capable of inducing both methylation alteration and mPing transposition in certain rice genotypes, it provides a tractable system to investigate the possible relationship between the two phenomena. Results mPing transposition and cytosine methylation alteration were measured in callus and regenerated plants in three rice (ssp. indica genotypes, V14, V27 and R09. All three genotypes showed transposition of mPing, though at various frequencies. Cytosine methylation alteration occurred both at the mPing-flanks and at random loci sampled globally in callus and regenerated plants of all three genotypes. However, a sharp difference in the changing patterns was noted between the mPing-flanks and random genomic loci, with a particular type of methylation modification, i.e., CNG hypermethylation, occurred predominantly at the mPing-flanks. Pearson's test on pairwise correlations indicated that mPing activity is positively correlated with specific patterns of methylation alteration at random genomic loci, while the element's immobility is positively correlated with methylation levels of the mPing's 5'-flanks. Bisulfite sequencing of two mPing-containing loci showed that whereas for the immobile locus loss of CG methylation in the 5'-flank was accompanied by an increase in CHG methylation, together with an overall increase in methylation of all three types (CG, CHG and CHH in the mPing-body region, for the active locus erasure of CG methylation in the 5'-flank was

  13. Ty3 GAG3 and POL3 genes encode the components of intracellular particles.

    OpenAIRE

    Hansen, L J; Chalker, D L; Orlinsky, K J; Sandmeyer, S B

    1992-01-01

    Ty3 is a Saccharomyces cerevisiae retrotransposon that integrates near the transcription initiation sites of polymerase III-transcribed genes. It is distinct from the copialike Ty1 and Ty2 retrotransposons of S. cerevisiae in both the sequences of encoded proteins and gene order. It is a member of the gypsylike family of retrotransposons which resemble animal retroviruses. This study was undertaken to investigate the nucleocapsid particle of a transpositionally active gypsylike retrotransposo...

  14. Eversion Subclavian Endarterectomy and Transposition for Coronary-Subclavian Steal Syndrome in a Patient with Refractory Angina Pectoris.

    Science.gov (United States)

    Hinojosa, Carlos A; Anaya-Ayala, Javier E; Laparra-Escareno, Hugo; Guerrero-Hernandez, Manuel; Galindo-Uribe, Jaime

    2016-01-01

    Late onset of angina pectoris associated with subclavian artery (SA) atherosclerotic occlusive disease is a rare and recognized cause of myocardial ischemia when the lesion is proximal to a left internal mammary artery (LIMA) to coronary bypass. The symptoms typically exacerbate by increasing the flow demand in the extremity; this phenomenon is known as late coronary-subclavian steal syndrome. We describe the case of a 66-year-old woman who underwent coronary artery bypass grafting from the LIMA to the left anterior descending coronary artery in 2000. Years later, she experienced refractory angina pectoris associated to an occlusive lesion in the proximal left SA. SA endarterectomy with eversion technique and subclavian-carotid transposition restored the antegrade flow with resolution of the symptomatology. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Autonomic nervous system function, child behavior, and maternal sensitivity in three-year-old children with surgically corrected transposition.

    Science.gov (United States)

    Harrison, Tondi M

    2013-01-01

    Explore relationships among autonomic nervous system (ANS) function, child behavior, and maternal sensitivity in three-year-old children with surgically corrected transposition of the great arteries (TGA) and in children healthy at birth. Children surviving complex congenital heart defects are at risk for behavior problems. ANS function is associated with behavior and with maternal sensitivity. Child ANS function (heart rate variability) and maternal sensitivity (Parent-Child Early Relational Assessment) were measured during a challenging task. Mother completed the Child Behavior Checklist. Data were analyzed descriptively and graphically. Children with TGA had less responsive autonomic function and more behavior problems than healthy children. Autonomic function improved with more maternal sensitivity. Alterations in ANS function may continue years after surgical correction in children with TGA, potentially impacting behavioral regulation. Maternal sensitivity may be associated with ANS function in this population. Continued research on relationships among ANS function, child behavior, and maternal sensitivity is warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

  16. Balloon atrial septostomy through internal jugular vein in a 45-day-old child with transposition of great arteries

    Directory of Open Access Journals (Sweden)

    Padhi Sumanta

    2010-01-01

    Full Text Available Balloon atrial septostomy is a common palliative procedure in D-transposition of great arteries. It is technically easy before 2-3 weeks of age when the septum primum is thin. Femoral vein or umbilical vein, when available, is the common access used for this procedure. In situations when these accesses are not available or in case of inferior vena cava interruption, trans-hepatic access is used. Internal jugular vein (IJV access is not used as it is difficult to enter the left atrium through this route. We describe a case of successful Balloon atrial septostomy done through IJV in a 45-day-old child with emphasis on the technique, hardware and precautions necessary during the procedure.

  17. Transpositions et deuil dans « Rose-Coloured Teacups » d’A.S. Byatt

    OpenAIRE

    Tollance, Pascale

    2016-01-01

    Cette brève nouvelle d’A.S. Byatt nous présente une femme seule, travaillant en silence à un curieux ouvrage, puisqu’elle compose en imagination un tableau énigmatique, dont on comprendra après coup qu’il est à la fois transposition et recomposition de fragments de vie épars. Le tableau imaginaire s’organise en deux pans, l’un ouvrant la nouvelle, l’autre la clôturant, séparés par un incident au présent qui interrompt la rêverie du personnage et en même temps ravive un incident passé. Dès le ...

  18. Radius neck-to-humerus trochlea transposition elbow reconstruction after proximal ulnar metastatic tumor resection: case and literature review.

    Science.gov (United States)

    Chen, Feiyan; Xia, Jun; Wei, Yibing; Wang, Siqun; Wu, Jianguo; Huang, Gangyong; Chen, Jie; Shi, Jingsheng

    2012-07-16

    Wide en bloc excision of proximal ulna sections is used to treat traumatic and pathological fractures of the ulna, though poor standardization of clinical treatment often results in long-term failure of such reconstructed biomechanical structures. In order to provide insight into effective ulnar reconstructive treatments, the case of an 80-year-old Chinese Han male presenting with pathological fracture caused by a proximal ulnar metastatic tumor concurrent with metastatic renal cancer complicated by occurrence in the brain and lungs is reported and contrasted with alternative treatment techniques. Wide resectioning of the proximal ulna and reconstruction with local radius neck-to-humerus trochlea transposition resulted in preservation of functionality, sensitivity, and biomechanical integrity after postsurgical immobilization, 6 weeks of passive- and active-assisted flexion, and extension with a hinged brace. The resultant Musculoskeletal Tumor Society rating score was 25 of 30 (83 %). Full sensitivity and mobility of the left hand and elbow (10° to 90° with minimally impaired supination and pronation) was restored with minimal discomfort. No evidence of local recurrence or other pathological complications were observed within a 1-year follow-up period. Efficient reconstruction of osseous and capsuloligamentous structures in the elbow is often accomplished by allografts, prosthesis, and soft tissue reconstruction, though wide variations in risk and prognosis associated with these techniques has resulted in disagreements regarding the most effective standards for clinical treatment. Current findings suggest that radius neck-to-humerus trochlea transposition offers a superior range of elbow movement and fewer complications than similar allograft and prosthetic techniques for patients with multiple metastatic cancers.

  19. Radius neck-to-humerus trochlea transposition elbow reconstruction after proximal ulnar metastatic tumor resection: case and literature review

    Directory of Open Access Journals (Sweden)

    Chen FeiYan

    2012-07-01

    Full Text Available Abstract Wide en bloc excision of proximal ulna sections is used to treat traumatic and pathological fractures of the ulna, though poor standardization of clinical treatment often results in long-term failure of such reconstructed biomechanical structures. In order to provide insight into effective ulnar reconstructive treatments, the case of an 80-year-old Chinese Han male presenting with pathological fracture caused by a proximal ulnar metastatic tumor concurrent with metastatic renal cancer complicated by occurrence in the brain and lungs is reported and contrasted with alternative treatment techniques. Wide resectioning of the proximal ulna and reconstruction with local radius neck-to-humerus trochlea transposition resulted in preservation of functionality, sensitivity, and biomechanical integrity after postsurgical immobilization, 6 weeks of passive- and active-assisted flexion, and extension with a hinged brace. The resultant Musculoskeletal Tumor Society rating score was 25 of 30 (83 %. Full sensitivity and mobility of the left hand and elbow (10° to 90° with minimally impaired supination and pronation was restored with minimal discomfort. No evidence of local recurrence or other pathological complications were observed within a 1-year follow-up period. Efficient reconstruction of osseous and capsuloligamentous structures in the elbow is often accomplished by allografts, prosthesis, and soft tissue reconstruction, though wide variations in risk and prognosis associated with these techniques has resulted in disagreements regarding the most effective standards for clinical treatment. Current findings suggest that radius neck-to-humerus trochlea transposition offers a superior range of elbow movement and fewer complications than similar allograft and prosthetic techniques for patients with multiple metastatic cancers.

  20. Development of quality metrics for ambulatory pediatric cardiology: Transposition of the great arteries after arterial switch operation.

    Science.gov (United States)

    Baker-Smith, Carissa M; Carlson, Karina; Ettedgui, Jose; Tsuda, Takeshi; Jayakumar, K Anitha; Park, Matthew; Tede, Nikola; Uzark, Karen; Fleishman, Craig; Connuck, David; Likes, Maggie; Penny, Daniel J

    2018-01-01

    To develop quality metrics (QMs) for the ambulatory care of patients with transposition of the great arteries following arterial switch operation (TGA/ASO). Under the auspices of the American College of Cardiology Adult Congenital and Pediatric Cardiology (ACPC) Steering committee, the TGA/ASO team generated candidate QMs related to TGA/ASO ambulatory care. Candidate QMs were submitted to the ACPC Steering Committee and were reviewed for validity and feasibility using individual expert panel member scoring according to the RAND-UCLA methodology. QMs were then made available for review by the entire ACC ACPC during an "open comment period." Final approval of each QM was provided by a vote of the ACC ACPC Council. Patients with TGA who had undergone an ASO were included. Patients with complex transposition were excluded. Twelve candidate QMs were generated. Seven metrics passed the RAND-UCLA process. Four passed the "open comment period" and were ultimately approved by the Council. These included: (1) at least 1 echocardiogram performed during the first year of life reporting on the function, aortic dimension, degree of neoaortic valve insufficiency, the patency of the systemic and pulmonary outflows, the patency of the branch pulmonary arteries and coronary arteries, (2) neurodevelopmental (ND) assessment after ASO; (3) lipid profile by age 11 years; and (4) documentation of a transition of care plan to an adult congenital heart disease (CHD) provider by 18 years of age. Application of the RAND-UCLA methodology and linkage of this methodology to the ACPC approval process led to successful generation of 4 QMs relevant to the care of TGA/ASO pediatric patients in the ambulatory setting. These metrics have now been incorporated into the ACPC Quality Network providing guidance for the care of TGA/ASO patients across 30 CHD centers. © 2017 Wiley Periodicals, Inc.

  1. "Birdlime" technique using TachoSil tissue sealing sheet soaked with fibrin glue for sutureless vessel transposition in microvascular decompression: operative technique and nuances.

    Science.gov (United States)

    Otani, Naoki; Toyooka, Terushige; Fujii, Kazuya; Kumagai, Kosuke; Takeuchi, Satoru; Tomiyama, Arata; Nakao, Yasuaki; Yamamoto, Takuji; Wada, Kojiro; Mori, Kentaro

    2017-08-11

    OBJECTIVE Microvascular decompression (MVD) is effective for the treatment of trigeminal neuralgia (TN), hemifacial spasm (HFS), and glossopharyngeal neuralgia. The transposition technique is the standard procedure to avoid adhesions and granuloma around the decompression site but is more complex and difficult to perform than the interposition technique. The authors describe a simple and safe MVD transposition procedure they call the "birdlime" technique, which uses a tissue glue-coated collagen sponge soaked with fibrin glue, and the results of this technique. METHODS The authors retrospectively reviewed the medical charts and radiographic findings of 27 consecutive patients with TN (8 patients) and HFS (19 patients) who, between January 2012 and December 2015, had undergone an MVD transposition procedure utilizing a tissue glue-coated collagen sponge (TachoSil tissue sealing sheet) soaked with fibrin glue (Tisseel 2-component fibrin sealant, vapor heated). Offending arteries among the patients with TN were the superior cerebellar artery (SCA) in 5 patients, the SCA and anterior inferior cerebellar artery (AICA) in 2, and the AICA in 1. Those among the patients with HFS were the vertebral artery (VA) in 3 patients, the VA and AICA in 4, the VA and posterior inferior cerebellar artery (PICA) in 3, the PICA in 4, the AICA in 1, the AICA-PICA in 3, and the PICA and AICA in 1. Operations were performed according to the Jannetta procedure. The offending artery was transposed and fixed to the dura mater of the petrous bone using TachoSil pieces soaked with fibrin glue. Postoperative constructive interference in steady-state MRI was performed to evaluate the change in the position of the offending artery. RESULTS Transposition of the offending artery was easily and safely performed in all patients. All patients had total remission of symptoms directly after the procedure. No severe complications occurred. The postoperative course was uneventful. No recurrences, adhesions

  2. One-step Multiplex Transgenesis via Sleeping Beauty Transposition in Cattle.

    Science.gov (United States)

    Garrels, Wiebke; Talluri, Thirumala R; Apfelbaum, Ronja; Carratalá, Yanet P; Bosch, Pablo; Pötzsch, Kerstin; Grueso, Esther; Ivics, Zoltán; Kues, Wilfried A

    2016-02-24

    Genetically modified cattle are important for developing new biomedical models and for an improved understanding of the pathophysiology of zoonotic diseases. However, genome editing and genetic engineering based on somatic cell nuclear transfer suffer from a low overall efficiency. Here, we established a highly efficient one-step multiplex gene transfer system into the bovine genome.

  3. [Transposition errors during learning to reproduce a sequence by the right- and the left-hand movements: simulation of positional and movement coding].

    Science.gov (United States)

    Liakhovetskiĭ, V A; Bobrova, E V; Skopin, G N

    2012-01-01

    Transposition errors during the reproduction of a hand movement sequence make it possible to receive important information on the internal representation of this sequence in the motor working memory. Analysis of such errors showed that learning to reproduce sequences of the left-hand movements improves the system of positional coding (coding ofpositions), while learning of the right-hand movements improves the system of vector coding (coding of movements). Learning of the right-hand movements after the left-hand performance involved the system of positional coding "imposed" by the left hand. Learning of the left-hand movements after the right-hand performance activated the system of vector coding. Transposition errors during learning to reproduce movement sequences can be explained by neural network using either vector coding or both vector and positional coding.

  4. Comparison of hemihypoglossal nerve versus masseteric nerve transpositions in the rehabilitation of short-term facial paralysis using the Facial Clima evaluating system.

    Science.gov (United States)

    Hontanilla, Bernardo; Marré, Diego

    2012-11-01

    Masseteric and hypoglossal nerve transfers are reliable alternatives for reanimating short-term facial paralysis. To date, few studies exist in the literature comparing these techniques. This work presents a quantitative comparison of masseter-facial transposition versus hemihypoglossal facial transposition with a nerve graft using the Facial Clima system. Forty-six patients with complete unilateral facial paralysis underwent reanimation with either hemihypoglossal transposition with a nerve graft (group I, n = 25) or direct masseteric-facial coaptation (group II, n = 21). Commissural displacement and commissural contraction velocity were measured using the Facial Clima system. Postoperative intragroup commissural displacement and commissural contraction velocity means of the reanimated versus the normal side were first compared using a paired sample t test. Then, mean percentages of recovery of both parameters were compared between the groups using an independent sample t test. Onset of movement was also compared between the groups. Significant differences of mean commissural displacement and commissural contraction velocity between the reanimated side and the normal side were observed in group I but not in group II. Mean percentage of recovery of both parameters did not differ between the groups. Patients in group II showed a significantly faster onset of movement compared with those in group I (62 ± 4.6 days versus 136 ± 7.4 days, p = 0.013). Reanimation of short-term facial paralysis can be satisfactorily addressed by means of either hemihypoglossal transposition with a nerve graft or direct masseteric-facial coaptation. However, with the latter, better symmetry and a faster onset of movement are observed. In addition, masseteric nerve transfer avoids morbidity from nerve graft harvesting. Therapeutic, III.

  5. Anatomical Classifications of the Coronary Arteries in Complete Transposition of the Great Arteries and Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect.

    Science.gov (United States)

    Wang, Cuijin; Chen, Shubao; Zhang, Haibo; Liu, Jinfen; Xu, Zhiwei; Zheng, Jinhao; Yan, Qin; Huang, Huimin; Huang, Meirong

    2017-01-01

    Objective  To discuss the anatomical morphologies of the coronary arteries and frequencies of unusual coronary arteries in complete transposition of the great arteries and double outlet right ventricle (DORV) associated with a subpulmonic ventricular septal defect (VSD). Methods  Between March 1999 and August 2012, 1,078 patients with complete transposition of the great arteries or DORV with subpulmonary VSD underwent arterial switch operations (ASOs) and were visually evaluated to classify their coronary artery morphology during open heart surgery. Results  The coronary arteries could be classified into five patterns with several subtypes. Unusual coronary arteries were observed in 248 of the 1,078 cases, providing a frequency of 23.01%. The frequencies of the patients with transposition of the great arteries with intact ventricular septum (TGA/IVS), TGA/VSD, and DORV with subpulmonary VSD were 17.65, 23.28, and 31.84%, respectively. The most common morphologies were the right coronary artery (RCA) originating from sinus 1 and circumflex (CX) originating from sinus 2 (1R, AD; 2CX; 26.50%); the CX originating from sinus 2 (1AD; 2R, CX; 21.36%); the RCA, left anterior descending artery, and CX originating from single sinus 2 (2R, AD, CX; 13.24%). The in-hospital mortalities of the patients with or without unusual coronary arteries after ASO were 14.1 and 6.02%, respectively. Conclusion  Patients with complete transposition of the great arteries or DORV with subpulmonary VSD have a high frequency of unusual coronary arteries, which might greatly impact on the mortality for ASO. Improving the preoperative diagnostic criteria for coronary artery morphology may significantly increase the success rate for ASOs. Georg Thieme Verlag KG Stuttgart · New York.

  6. Protein-DNA interactions define the mechanistic aspects of circle formation and insertion reactions in IS2 transposition

    Directory of Open Access Journals (Sweden)

    Lewis Leslie A

    2012-01-01

    Full Text Available Abstract Background Transposition in IS3, IS30, IS21 and IS256 insertion sequence (IS families utilizes an unconventional two-step pathway. A figure-of-eight intermediate in Step I, from asymmetric single-strand cleavage and joining reactions, is converted into a double-stranded minicircle whose junction (the abutted left and right ends is the substrate for symmetrical transesterification attacks on target DNA in Step II, suggesting intrinsically different synaptic complexes (SC for each step. Transposases of these ISs bind poorly to cognate DNA and comparative biophysical analyses of SC I and SC II have proven elusive. We have prepared a native, soluble, active, GFP-tagged fusion derivative of the IS2 transposase that creates fully formed complexes with single-end and minicircle junction (MCJ substrates and used these successfully in hydroxyl radical footprinting experiments. Results In IS2, Step I reactions are physically and chemically asymmetric; the left imperfect, inverted repeat (IRL, the exclusive recipient end, lacks donor function. In SC I, different protection patterns of the cleavage domains (CDs of the right imperfect inverted repeat (IRR; extensive in cis and IRL (selective in trans at the single active cognate IRR catalytic center (CC are related to their donor and recipient functions. In SC II, extensive binding of the IRL CD in trans and of the abutted IRR CD in cis at this CC represents the first phase of the complex. An MCJ substrate precleaved at the 3' end of IRR revealed a temporary transition state with the IRL CD disengaged from the protein. We propose that in SC II, sequential 3' cleavages at the bound abutted CDs trigger a conformational change, allowing the IRL CD to complex to its cognate CC, producing the second phase. Corroborating data from enhanced residues and curvature propensity plots suggest that CD to CD interactions in SC I and SC II require IRL to assume a bent structure, to facilitate binding in trans

  7. Two-stage anatomical repair of “simple” transposition of great arteries in neonates with extracardiac perinatal complications

    Directory of Open Access Journals (Sweden)

    O. Yu. Kornoukhov

    2017-07-01

    Full Text Available Aim. This study was designed to analyse the results of two-stage arterial switch operation (ASO of “simple” transposition of great arteries in patients with infection, neurological problems or necrotizing enterocolitis, which preclude neonatal surgery. Methods. Transthoracic echocardiography data and outcomes of surgery were investigated in 19 patients (study group; #1 after two-stage ASO and 67 patients (control group; #2 after a single-stage ASO. Age of patients at the first stage was 27 (8–55 days and at the second stage 172 (92–256 days. Patients in group 2 were 7 (2–53 days old. All of them were followed up for 21 (4–49 months (group 1 and 40 (7–79 months (group 2 after arterial switch operation. Results. There was no operative mortality at both stages in group 1. The duration of ventilation, length of intensive care unit and hospital stay after surgery were considerably lower in group 1. Actuarial sur-vival and freedom from reoperation at 4 years in group 1 accounted for 100%, while in the con-trol group those indicators at 6 years ran to 98.5% and 94%, respectively. The only difference detected by echocardiography was the aortic valve hinge points Z-score (3.9±1.44 vs 3.1±1.27; p=0.025 and sinuses of Valsalva (3.8±1.41 vs 2.8±1.19; p=0.03, which were higher in the 1st group. There was no aortic regurgitation >1 grade in both groups. Conclusion. Two-stage repair of “simple” transposition of great arteries, when it’s necessary to delay arterial switch operation on the clinical grounds, can be performed with excellent clinical outcomes. The tendency of group 1 patients to have a larger neo-aortic root does not appear to bear any clinical significance in mid-term follow-up.Received 21 December 2016. Accepted 8 May 2017.Funding: The study had no sponsorship.Conflict of interest: The authors declare no conflict of interest. Author contributions Study concept and design: Kornoukhov O.Yu., Ilyin V.N.Data collection and

  8. Wound Dehiscence after Wisdom Tooth Removal in Mandibular Mesioangular Class IB Impactions: Triangular Transposition Flap versus Envelope Flap

    Directory of Open Access Journals (Sweden)

    Amin Rahpeyma

    2015-09-01

    Full Text Available Background and aims. Wound dehiscence after lower third molar surgery extends the postoperative treatment period and may cause long-standing pain. The aim of this study was to compare wound dehiscence after removal of wisdom teeth in the most prevalent mandibular impaction (mesioangular class IB by two different soft tissue flap designs. Materials and methods. Partially-erupted mandibular third molars with mesioangular class IB impaction (Pell and Gregory classification were selected. Split mouth technique was used to compare the two flap designs (envelope vs. triangular transposition flap—TTF. The patients were recalled one week and a month later and rechecked for dehiscence, infection, and dry socket formation. Results. There were no cases of infection in either group. However, three cases of dry socket in the envelope group and four in the TTF group were recorded. In the envelope group, dehiscence occurred in 43% of cases during the first week, with 67% of cases being a large dehiscence (diameters of more than 5 mm. Extra appointments (those requested by the patient exclusively related to the problem of the hole distal to the second molar were scheduled in 10% of cases in the envelope group. In the TTF group, dehiscence occurred during the first week for the same impaction in 19% of cases with large dehiscence cases occurring in 65% of cases and extra appointment rate at 4.1%. Conclusion. According to theresults in the evaluated operation, TTF may prevent postoperative wound dehiscence more probably than the envelope flap.

  9. Relationship of white matter network topology and cognitive outcome in adolescents with d-transposition of the great arteries

    Directory of Open Access Journals (Sweden)

    Ashok Panigrahy

    2015-01-01

    Full Text Available Patients with congenital heart disease (CHD are at risk for neurocognitive impairments. Little is known about the impact of CHD on the organization of large-scale brain networks. We applied graph analysis techniques to diffusion tensor imaging (DTI data obtained from 49 adolescents with dextro-transposition of the great arteries (d-TGA repaired with the arterial switch operation in early infancy and 29 healthy referent adolescents. We examined whether differences in neurocognitive functioning were related to white matter network topology. We developed mediation models revealing the respective contributions of peri-operative variables and network topology on cognitive outcome. Adolescents with d-TGA had reduced global efficiency at a trend level (p = 0.061, increased modularity (p = 0.012, and increased small-worldness (p = 0.026 as compared to controls. Moreover, these network properties mediated neurocognitive differences between the d-TGA and referent adolescents across every domain assessed. Finally, structural network topology mediated the neuroprotective effect of longer duration of core cooling during reparative neonatal cardiac surgery, as well as the detrimental effects of prolonged hospitalization. Taken together, worse neurocognitive function in adolescents with d-TGA is mediated by global differences in white matter network topology, suggesting that disruption of this configuration of large-scale networks drives neurocognitive dysfunction. These data provide new insights into the interplay between perioperative factors, brain organization, and cognition in patients with complex CHD.

  10. Cerebral oximetry monitoring in the management of severe hypoxaemia associated with transposition of the great arteries with balloon atrial septostomy.

    Science.gov (United States)

    Pérez Moreno, J C; Nájera Losada, D C; Sanabria Carretero, P; Paredes Lacave, Á; Benito Bartolomé, F

    2018-01-21

    Transposition of the great arteries (D-TGA) is one of the most common congenital heart diseases requiring neonatal surgical intervention. In the desperately ill neonate with TGA and the resultant hypoxaemia, acidemia, and congestive heart failure, improvement is often obtained with balloon atrial septostomy (BAS). Current methods employed to evaluate oxygen delivery and tissue consumption are frequently nonspecific. Near infrared spectroscopy (NIRS) allows a continuous non-invasive measurement of tissue oxygenation which reflects perfusion status in real time. Because little is known about the direct effect of BAS on the neonatal brain and on cerebral oxygenation, we measured the effectiveness of BAS in two patients with D-TGA using NIRS before and after BAS. We concluded BAS improves cerebral oxygen saturation in neonates with D-TGA. Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Anatomical and clinical substantiation of the long head of triceps transposition to restore active forearm flexion in patients with arthrogryposis

    Directory of Open Access Journals (Sweden)

    S. I. Trofimova

    2013-01-01

    Full Text Available Purpose: to investigate anatomic features of the long head of triceps brachii in relation to its using as a pedicle flap for restoration of active forearm flexion in patients with arthrogryposis. Material and methods. Anatomical studies were performed on 15 fresh frozen human upper limbs from 9 cadavers. Arteries were perfused with radiopaque masses and following preparation, sectional roentgenography, morphometry of anatomical structures were carried. 29 patients with the lack of active elbow flexion aged from 8 months to 15 years were examined (clinical, neurological and physiological studies and treated in Turner Scientific and Research Institute for Children's Orthopedics from 2008 to 2012. Results and conclusion. Anatomical studies demonstrated the possibility of transposition of the long head of triceps to forearm flexors position. The long head of triceps can be simply separated from the other two heads, it has independent innervation and blood supply, its vascular pedicle is easily identified, and length of extraorgan vessels and nerves is sufficient to transfer the muscle as a pedicle flap. Clinical study has shown the principal possibility and effectiveness of restoration of active forearm flexion in patients with arthrogryposis using the long head of triceps brachii.

  12. [Reconstruction of medial patellofemoral ligament with transposition of great adductor muscular tendon for the treatment of teenagers' recurrent patellar dislocation].

    Science.gov (United States)

    Shao, Chuan-Qiang; Chen, Chang-Chun; Zhao, Chun-Cheng; Yang, Hong-Mei; Kang, Yan-Zhong

    2017-06-25

    To investigate surgical method and clinical curative effects of medial patellofemoral ligament (MPFL) reconstruction with great adductor muscular tendon in treating teenagers' recurrent patellar dislocation. From May 2012 to September 2014, 19 patients with recurrent dislocation of patellar, including 6 males and 13 females with an average of 16 years old (ranged from 13 to 17 years), the courses of disease ranged from 3 to 18 months(averaged 6 months). All patients were underwent great adductor muscular tendon transposition to reconstruct medial patellofemoral ligament. The curative effects were evaluated by preoperative and postoperative with Lysholm scores and Patellofemoral angle and Q angle. All patients were followed up from 12 to 18 months with an average of 16.5 months. Primary healing was achieved at stage I. No pain, swelling and patellar dislocation or subluxation occurred. Patellofemoral angle increased from preoperative (-3.8±4.9)° to (10.3±4.1)° postoperatively. Q angle decreased from preoperative(16.4±3.1)° to(10.5±1.2)° postoperatively; Lysholm scores were improved from preoperative (68.6±8.5) to (93.7±6.5) final follow-up ( P teenagers' recurrent patellar dislocation.

  13. Generation of a transgenic cashmere goat using the piggyBac transposition system.

    Science.gov (United States)

    Bai, Ding-Ping; Yang, Ming-Ming; Qu, Lei; Chen, Yu-Lin

    2017-04-15

    The development of transgenic technologies in the Cashmere goat (Capra hircus) has the potential to improve the quality of the meat and wool. The piggyBac (PB) transposon system is highly efficient and can be used to transpose specific target genes into the genome. Here, we developed a PB transposon system to produce transgenic Cashmere goat fetal fibroblasts (GFFs) with the enhanced green fluorescent protein (EGFP). We then used the genetically modified GFFs as nuclear donors to generate transgenic embryos by somatic cell nuclear transfer (SCNT). The embryos (n = 40) were implanted into female goats (n = 20). One transgenic kid that expressed EGFP throughout the surface features of its body was born. This result demonstrated the usefulness of PB transposon system in generating transgenic Cashmere goats. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. [Efficacy of Vertical Muscle Transpositions with and without Simultaneous Rectus Muscle Recession for Unilateral Sixth Nerve Palsy].

    Science.gov (United States)

    Hedergott, Andrea M; Wild, Dana; Fricke, Julia; Neugebauer, Antje

    2017-11-20

    Background We report results of a modified vertical muscle transposition procedure according to the Hummelsheim principle - with and without simultaneous rectus muscle recession - for unilateral sixth nerve palsy. We examine the influence of the duration of the palsy, preoperative angle of squint and preoperative abductive capacity on surgical results of the procedures. Patients and Methods Retrospective study of 29 consecutive patients with unilateral abducens nerve palsy who underwent surgery between 2001 and 2012. 21 patients had a modified vertical rectus muscle transposition according to the Hummelsheim principle (HUM); 8 patients had this operation combined with simultaneous medial rectus muscle recession (HUM+I). Surgery was performed at least 9 months after onset of the palsy (HUM: 9 to 98, median 19, mean 30 months; HUM+I: 12 to 65, median 25, mean 29 months). Results The median preoperative angle of squint (far distance) for the HUM group was 27.0° (20.0 to 45.0; mean 28.1°), and for the HUM+I group 30.5° (21.8 to 50.0; mean 33.4°). The median preoperative abductive capacity was for - 1,6 mm before midline (- 8.0 to + 1.2; mean - 1.8 mm) for the HUM group, and - 3.0 mm before midline (- 10.0 to - 1.0; mean - 4.1 mm) for the HUM+I group. The median postoperative angle of squint (far distance) was 0° (- 11.3 to + 20.0; mean 0.1°) for the HUM group, and - 2.3° (- 11.3 to + 12.0; mean - 2.1°) for the HUM+I group. The median postoperative abductive capacity was 1.0 mm (0 to + 3.0; mean + 1.1 mm) for the HUM group, and 1.1 mm (- 1.2 to + 3.0; mean + 0.9 mm) for the HUM+I group. The median reduction of squint angle was 27.0° (9.1 to 45.0; mean 28.0°) for the HUM group, and 36.8° (25.2 to 41.4; mean 35.5°) for the HUM+I group. The median effect on abductive capacity was 2.5 mm (0 to 11.0; mean + 2.9 mm) for the HUM group, and 4.6 mm (2.4 to 8.8; mean + 5.0 mm) for the HUM+I group. In

  15. Graph theory analysis of cortical thickness networks in adolescents with d-transposition of the great arteries.

    Science.gov (United States)

    Watson, Christopher G; Stopp, Christian; Newburger, Jane W; Rivkin, Michael J

    2018-02-01

    Adolescents with d-transposition of the great arteries (d-TGA) who had the arterial switch operation in infancy have been found to have structural brain differences compared to healthy controls. We used cortical thickness measurements obtained from structural brain MRI to determine group differences in global brain organization using a graph theoretical approach. Ninety-two d-TGA subjects and 49 controls were scanned using one of two identical 1.5-Tesla MRI systems. Mean cortical thickness was obtained from 34 regions per hemisphere using Freesurfer. A linear model was used for each brain region to adjust for subject age, sex, and scanning location. Structural connectivity for each group was inferred based on the presence of high inter-regional correlations of the linear model residuals, and binary connectivity matrices were created by thresholding over a range of correlation values for each group. Graph theory analysis was performed using packages in R. Permutation tests were performed to determine significance of between-group differences in global network measures. Within-group connectivity patterns were qualitatively different between groups. At lower network densities, controls had significantly more long-range connections. The location and number of hub regions differed between groups: controls had a greater number of hubs at most network densities. The control network had a significant rightward asymmetry compared to the d-TGA group at all network densities. Using graph theory analysis of cortical thickness correlations, we found differences in brain structural network organization among d-TGA adolescents compared to controls. These may be related to the white matter and gray matter differences previously found in this cohort, and in turn may be related to the cognitive deficits this cohort presents.

  16. [Neonatal anatomical repair of transposition of great vessels associated with atrial septal defect. Apropos of 42 cases].

    Science.gov (United States)

    Planché, C; Serraf, A; Bruniaux, J; Lacour-Gayet, F; Bouchart, F; Losay, J; Touchot, A

    1991-05-01

    The good results obtained by anatomic correction of simple transposition of the great arteries (TGA) in the neonatal period have incited some surgical teams to widen the indications to neonates with TGA associated with ventricular septal defect (VSD). The classical management of these patients is a two stage procedure: banding of the pulmonary artery followed by detransposition, which carries a certain risk. Between January 1985 and June 1990, 42 neonates with TGA and VSD underwent a combined procedure consisting in anatomic correction of the TGA and closure of the VSD. The average age of these patients was 16 days, and the average weight was 3.3 kg. Ten patients had coarctation and 6 underwent a complete one stage correction by an anterior approach. The surgical technique consisted in closing the VSD from the right atrium in 20 patients, from the right ventricle in 11 patients and from the pulmonary artery in 11 patients, associated with detransposition of the great arteries and coronary artery reimplantation. Three children died in the preoperative period (7.1%). In two cases, death was related to malposition of the coronary artery. The third fatality was the result of haemorrhage. There has been one late death three years after surgery. Four patients have been reoperated for stenosis of the right ventricular outflow tract (1 case), recurrence of coarctation (2 cases) and stenosis of the superior vena cava (1 case) and have survived. All patients were followed up for an average period of 26.4 +/- 19 months. They are all in the NYHA Class I without treatment. One patient has mild aortic regurgitation.(ABSTRACT TRUNCATED AT 250 WORDS)

  17. Postoperative pulmonary and aortic 3D haemodynamics in patients after repair of transposition of the great arteries

    Energy Technology Data Exchange (ETDEWEB)

    Geiger, Julia; Buerk, Jonas; Jung, Bernd; Langer, Mathias [University Medical Center Freiburg, Department of Radiology, Medical Physics, Freiburg (Germany); Hirtler, Daniel; Stiller, Brigitte [University Medical Center Freiburg-Bad Krozingen, Department of Congenital Heart Disease and Paediatric Cardiology, Freiburg (Germany); Arnold, Raoul [University Medical Center Heidelberg, Department of Congenital Heart Disease and Paediatric Cardiology, Heidelberg (Germany); Markl, Michael [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago (United States); Northwestern University, Department Biomedical Engineering, McCormick School of Engineering, Chicago (United States)

    2014-01-15

    To characterise aortic and pulmonary haemodynamics and investigate the correlation with post-surgical anatomy in patients with dextro-transposition of the great arteries (d-TGA). Four-dimensional (4D) MRI was performed in 17 patients after switch repair of TGA and 12 healthy controls (age, 11.9 ± 5.4 vs 23.3 ± 1.6 years). Patients were divided according to the pulmonary trunk (TP) position in relation to the ascending aorta (AAo): anterior (n = 10) and right/left anterior position (n = 7). Analysis included visual grading (ranking 0-2) of pulmonary and aortic vortical and helical flow, flow velocity quantification, blood-flow distribution to the right and left pulmonary arteries (flow ratio rPA:lPA), and vessel lumen areas. Anterior TP position was associated with increased vortices in six out of ten patients compared with right anterior TP position (one out of seven) and controls (none). Reduced systolic lPA and TP lumina in patients resulted in significantly increased peak systolic velocities (P < 0.001). Flow ratio rPA:lPA was more heterogeneous in patients (rPA:lPA = 1.56 ± 0.78 vs volunteers 1.09 ± 0.15; P < 0.05) with predominant flow to the rPA. Eleven patients presented increased helices in the AAo (grade 1.6). Evaluation of post-surgical haemodynamics in TGA patients revealed increased vortical flow for anterior TP position, asymmetric flow and increased systolic flow velocity in the pulmonary arteries owing to reduced vascular lumina. (orig.)

  18. NeuroSPECT demonstrates increased cortical function in Alzheimer's disease patients for at least two years after omental transposition neurosurgery

    International Nuclear Information System (INIS)

    Shankle, William R; Mena, Ismael; Hara, Junko; O'Heany, Terence; Bjornsen, Lynda; Gade, George; Leport, Peter; Ali, Mir; Rayhaun, Abraham; Kim, Jinho; Malkazian, Dennis; Raimo, Maryellen; Reyes, Linda; Fallon, James; Kim, Ronald

    2006-01-01

    Clinical improvement following surgical transposition of the omentum to the brain (OTS) has been observed in a variety of neurologic disorders, including stroke, encephalitis, cerebral palsy, spinal cord transaction and Alzheimer's disease. The basis for such improvement is not known, but may relate to the presence of stem cells and growth factors in the omentum, which have been implicated in angiogenesis, neurogenesis and neuronal survival. The present report describes the changes in brain activity in two patients with biopsy confirmed Alzheimer's disease (AD) whose course had entered a phase of more rapid decline prior to OTS. The patients were followed with disease severity (Clinical Dementia Rating Scale), cognitive (Mini-Mental Status Exam) and HMPAO NeuroSPECT measures for 22 and 42 months. Dementia severity lessened for 2 or more years while cortical activity in areas underneath, adjacent to, and contralateral to the omentum increased by 1-2 standard deviations above the patient's preoperative baseline (maximum increase was 21%, 4 Standard Deviations). In the more mildly demented AD patient 22 months after OTS, the posterior cingulate cortex showed up to a 20% increase in activity compared to is preoperative level of activity. This is remarkable in that the omentum had no direct contact with the posterior cingulate gyrus, which is involved in the early stages of AD neuropathology (Braak and Braak stages 3-4). These findings warrant further investigation into the mechanism(s) by which the omentum can improve cortical activity and clinical function for two or more years in Alzheimers' disease (au)

  19. Evolution of the Vertebrate Resistin Gene Family.

    Directory of Open Access Journals (Sweden)

    Qingda Hu

    Full Text Available Resistin (encoded by Retn was previously identified in rodents as a hormone associated with diabetes; however human resistin is instead linked to inflammation. Resistin is a member of a small gene family that includes the resistin-like peptides (encoded by Retnl genes in mammals. Genomic searches of available genome sequences of diverse vertebrates and phylogenetic analyses were conducted to determine the size and origin of the resistin-like gene family. Genes encoding peptides similar to resistin were found in Mammalia, Sauria, Amphibia, and Actinistia (coelacanth, a lobe-finned fish, but not in Aves or fish from Actinopterygii, Chondrichthyes, or Agnatha. Retnl originated by duplication and transposition from Retn on the early mammalian lineage after divergence of the platypus, but before the placental and marsupial mammal divergence. The resistin-like gene family illustrates an instance where the locus of origin of duplicated genes can be identified, with Retn continuing to reside at this location. Mammalian species typically have a single copy Retn gene, but are much more variable in their numbers of Retnl genes, ranging from 0 to 9. Since Retn is located at the locus of origin, thus likely retained the ancestral expression pattern, largely maintained its copy number, and did not display accelerated evolution, we suggest that it is more likely to have maintained an ancestral function, while Retnl, which transposed to a new location, displays accelerated evolution, and shows greater variability in gene number, including gene loss, likely evolved new, but potentially lineage-specific, functions.

  20. [Use of non-fluoroscopic mapping in recurrent atrioventricular nodal reentrant tachycardia in a patient with corrected transposition of the great arteries].

    Science.gov (United States)

    Aristizábal, Julián; Uribe, William; Duque, Mauricio; Marín, Jorge; Medina, Eduardo; Velásquez, Jorge; Femenía, Francisco; Baranchuk, Adrían

    2013-01-01

    The anatomy in congenital corrected transposition of the great arteries is complex and the conduction system may experience large degrees of variation. Invasive procedures should be done with the use of the highest possible technological sources to warrant success. We describe here, a patient with recurrent atrioventricular node reentry tachycardia where non-fluoroscopic navigation system helped in a complex ablation. Copyright © 2011 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  1. Jarvik 2000 axial-flow ventricular assist device placement to a systemic morphologic right ventricle in congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Tanoue, Yoshihisa; Jinzai, Yuki; Tominaga, Ryuji

    2016-03-01

    Few descriptions of the implantation and management of an implantable ventricular assist device in patients with complex congenital heart disease exist in the literature. The Jarvik 2000 axial-flow ventricular assist device (Jarvik Heart, Inc., NYC, NY, USA) can be placed in either the left or the right ventricle. We present the case of a 60-year-old man with congenitally corrected transposition of the great arteries who underwent successful placement of a Jarvik 2000 axial-flow ventricular assist device in a systemic morphologic right ventricle.

  2. Anestesia en la transposición de los grandes vasos ANESTHESIA IN THE TRANSPOSITION OF THE GREAT VESSELS

    Directory of Open Access Journals (Sweden)

    Lincoln de la Parte Pérez

    2005-03-01

    Full Text Available La transposición de los grandes vasos es una cardiopatía compleja que se acompaña de una elevada mortalidad. Se conoce que el 45 % de los pacientes fallece durante el primer mes de vida y alrededor del 90 % antes del año. Las principales causas de la muerte son la hipoxia y la insuficiencia cardíaca. El desarrollo de las especialidades que trabajan en cirugía cardiovascular pediátrica ha permitido aumentar la supervivencia de estos niños, especialmente con el uso de prostaglandinas para mantener el ductus permeable, la técnica de Raskind-Miller ( septostomía de balón y una tendencia cada vez mayor a la corrección anatómica temprana (operación de Jatene en lugar de los clásicos procedimientos paliativos y las técnicas de corrección fisiológica de Senning y Mustard . Se presenta una revisión bibliográfica sobre los factores a tener en cuenta en el manejo anestésico de estos pacientes.The transposition of the great vessels is a complex heart disease accompanied of a high mortality. It is known that 45 % of the patients die during the first month of life and at about 90 % do it before being one year old. The main causes of death are hypoxia and heart failure. The development of the specialties working in pediatric cardiovascular surgery has allowed to increase the survival of these children, specially with the use of prostaglandins to maintain the ductus permeable, the Raskind-Miller's technique (balloon septostomy, and an increasing trend towards an early anatomical correction (Jatene's operation to replace the classical palliative procedures and Senning and Mustartd's techniques of physiological correction. A bibliographic review of the factors to be taken into account in the anesthetic management of these patients is presented.

  3. Evolution of European Union legislation of herbal medicinal products and its transposition to national legislation in 1965-2007: case Finland.

    Science.gov (United States)

    Koski, Sari M; Laitinen-Parkkonen, Pirjo; Airaksinen, Marja

    2015-01-01

    The study aim was to explore the progress of legislation relating to herbal medicinal products in the European Union and compare it with the corresponding progress of the legislation in Finland in 1965-2007. The study was carried out using content analysis. Data were searched from publicly available European Union directives and national acts. All definitions and safety-related requirements for herbal medicinal products were identified. The transposition of safety-related requirements into the national legislation was studied. Medicinal products from plant origins have been part of the European Union legislation since 1965. Most plant-based products have not initially been regarded as medicinal products but rather as some kind of medicine-like products. The official definition of herbal medicinal products was introduced in Directive 2004/24/EC and implemented into the Finnish legislation with the terminology to recognise herbal medicinal products as part of medicinal products. The current safety-related requirements of medicinal products concern analogously herbal medicinal products. Herbal medicinal products have had different definitions in pharmaceutical legislation over the study period in the European Union and Finland. The current definition places herbal medicinal products more clearly under the medicinal products' legislation. Safety-related requirements are now practically identical for all medicinal products. Transposition of the European Union legislation into the national legislation in Finland is apparent. Copyright © 2013 John Wiley & Sons, Ltd.

  4. Genes and Gene Therapy

    Science.gov (United States)

    ... correctly, a child can have a genetic disorder. Gene therapy is an experimental technique that uses genes to ... or prevent disease. The most common form of gene therapy involves inserting a normal gene to replace an ...

  5. Conferring of contracts by utilities in the Single European Market. Transposition of the sectoral directive where it concerns construction and delivery orders into German law

    International Nuclear Information System (INIS)

    Pick, H.; Wetzel, U.

    1994-01-01

    After the enactment of the Second Law Amending the Law on Budgetary Principles, the Ordinance on the Confering of Contracts, and the Ordinance on Verification; and the amendment of the ordinances on the placing of construction and delivery orders (VOB and VOL) the European Directives on so-called ''public'' tendering can be said to be transposed into German law as far as they concern construction and delivery orders. This means that as of 1 March 1994 besides the ''classical'' public contractors utilities, too, must invite bids Europe-wide. According to European law this also applies to service orders as of 1 July 1994, but this provision still awaits transposition into German law. (orig.) [de

  6. Cardiac Resynchronization for Corrected Transposition of the Great Arteries with Systemic Right Ventricle Failure after Tricuspid Valve Replacement and Ventricle Septal Defect Closure

    Directory of Open Access Journals (Sweden)

    Kosuke Fujii, MD

    2010-01-01

    Full Text Available A 32-year-old man developed systemic right ventricular (RV heart failure after ventricular septal defect (VSD closure and tricuspid valve replacement for corrected transposition of the great arteries with VSD and Ebstein anomaly. He subsequently experienced RV failure with wide QRS and atrial fibrillation (AF. Because corrective surgery for this condition seemed over risky, we decided to perform cardiac resynchronization therapy with implantation of an implantable cardioverter defibrillator (CRT-D. After CRT-D device implantation, the patient showed improved performance status in terms of New York Heart Association functional class, B-type brain natriuretic peptide levels, RV ejection fraction and cardiac electrical rhythm. CRT-D implantation is a useful approach for systemic RV failure with wide QRS duration showing right bundle branch block and AF.

  7. Somatic transposition in the brain has the potential to influence the biosynthesis of metabolites involved in Parkinson’s disease and schizophrenia

    Directory of Open Access Journals (Sweden)

    Abrusán György

    2012-11-01

    Full Text Available Abstract It has been recently discovered that transposable elements show high activity in the brain of mammals, however, the magnitude of their influence on its functioning is unclear so far. In this paper, I use flux balance analysis to examine the influence of somatic retrotransposition on brain metabolism, and the biosynthesis of its key metabolites, including neurotransmitters. The analysis shows that somatic transposition in the human brain can influence the biosynthesis of more than 250 metabolites, including dopamine, serotonin and glutamate, shows large inter-individual variability in metabolic effects, and may contribute to the development of Parkinson’s disease and schizophrenia. Reviewers This article was reviewed by Dr Kenji Kojima (nominated by Dr Jerzy Jurka and Dr Eugene Koonin.

  8. Ipsilateral vascularised ulnar transposition autograft for limb-sparing surgery of the distal radius in 2 dogs with osteosarcoma : clinical communication

    Directory of Open Access Journals (Sweden)

    G.S. Irvine-Smith

    2006-06-01

    Full Text Available Canine osteosarcoma is the most commonly diagnosed primary bone tumour in the dog, affecting mainly large and giant breed dogs with the predilection site being the metaphysis of long bones, specifically the distal radius, proximal humerus, distal femur and proximal tibia and fibula. Treatment options are either palliative or curative intent therapy, the latter limb amputation or limb-sparing surgery together with chemotherapy. This article describes the use of an ipsilateral vascularised ulnar transposition autograft as well as chemotherapy in 2 dogs with osteosarcoma of the distal radius. Both dogs showed minimal complications with the technique and both survived over 381 days following the surgery. Complications seen were loosening of the screws and osteomyelitis. The procedure was well tolerated with excellent limb use. This technique is indicated for use in cases with small tumour size that have not broken through the bone cortex.

  9. Judicial Protection in the Field of Public Procurement: The Transposition into Dutch Law of Directive 2007/66/EC Amending the Remedies Directives

    Directory of Open Access Journals (Sweden)

    Wouter-Jan Berends

    2010-08-01

    Full Text Available Public procurement procedures in the EU are coordinated by Directives 2004/17/EC and 2004/18/EC. The acquis communautaire provides minimum requirements for review procedures against public procurement decisions in order to ensure access to effective remedies for economic operators. These minimum requirements are established in Directives 89/665/ EEC and 92/13/EEC and recently amended by Directive 2007/66/EC. The Helby report identified several substantive concerns over the Dutch proposal on the implementation the of the Remedies Directive; Wet implementatie rechtsbeschermingsrichtlijnen. Although the transposition target date has not been met, the Dutch legislature has succeeded to transpose Directive 2007/66/EC into Dutch law while addressing the concerns of the Helby report.

  10. Persistent institutional difficulties in surgery for transposition of the great arteries in guatemala: analysis with the aristotle basic and comprehensive scores.

    Science.gov (United States)

    Leon-Wyss, Juan; Lo Rito, Mauro; Barnoya, Joaquin; Castañeda, Aldo R

    2011-07-01

    Background. Neonates with complex congenital cardiac lesions are largely inadequately managed in Guatemala. Methods. Between 1997 and 2009, 79 patients who underwent operations for transposition of the great arteries were identified; 51 (63.3%) had an arterial switch operation (ASO) and 28 (36%) an atrial switch operation (ATSO). The Aristotle Basic Complexity score (ABC score) and the Aristotle Comprehensive Complexity score (ACC score) have been used to aid in the evaluation of quality of care associated with pediatric cardiac surgery by adjusting for operative complexity. Results. In-hospital mortality was 47% for the ASO and 25% for the ATSO group; 36.7% were beyond 1 month of age and many exhibited increased preoperative risk factors. The mean ABC score was 9.75 ± 0.89 and the ACC score was 12.12 ± 2.7, with a mean 2.36-point increase (P < .05). Comparing survivors and nonsurvivors with both scores, significant differences were identified (ABC: P < .04 and ACC: P < .02). Conclusion. During this 13-year period, a low volume of surgery for transposition of the great arteries (TGA) was performed at our institution with a relatively high surgical mortality. Many patients with TGA in Guatemala are either never referred for surgery or referred late. Strategies to improve outcomes for neonates with TGA in Guatemala must include increases in early diagnosis countrywide and prompt referral to our unit. Based on the larger number of neonates with TGA that would be referred to our center, we anticipate that this strategy should substantially improve surgical outcomes and favor overall team-related skills.

  11. The functional status of neoaortic valve and left ventricular outlet tract after arterial switch operation for transposition of great arteries with left ventricular outlet tract obstruction.

    Science.gov (United States)

    Chang, Yi; Li, Shoujun; Zhang, Hao; Hua, Zhongdong; Yang, Keming; Gao, Huawei

    2016-07-01

    To assess the function of the left ventricular outlet tract and neoaortic valve after arterial switch operation for patients with transposition of the great arteries and left ventricular outlet tract obstruction. The data of 40 patients, who underwent arterial switch surgery with transposition of the great arteries with left ventricular outlet tract obstruction and a concomitant left ventricular outlet tract obstruction relieving procedure, were retrospectively analysed. Ultrasonic cardiogram and intraoperative findings, surgical methods and early and follow-up results were also summarized. Early death occurred in one case. One patient died in follow-up stage and 3 patients were lost during follow-up. In all the 35 patients accepting follow-up, 1 patient had a reoccurring left ventricular outlet tract obstruction, 1 patient had mild neoaortic stenosis, whereas mild and moderate neoaortic regurgitation occurred in 11 and 2 patients, respectively. The median pressure gradient across the left ventricular outlet tract was 6.8 mmHg (range: 2-49 mmHg) during follow-up which was statistically significant compared with that before surgery. We defined death, reintervention and rehospitalization for cardiac reasons as a cardiac event; the survival rate of being free from cardiac event for 1 year and 5 years was 92.8 ± 0.04%, respectively. Anatomical features and pressure gradient should be used together to evaluate the severity of obstruction, whereas the mid-term outcomes can be satisfied after arterial switch operation for the appropriate candidates. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  12. Birth and death of gene overlaps in vertebrates

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    Makałowska Izabela

    2007-10-01

    Full Text Available Abstract Background Between five and fourteen per cent of genes in the vertebrate genomes do overlap sharing some intronic and/or exonic sequence. It was observed that majority of these overlaps are not conserved among vertebrate lineages. Although several mechanisms have been proposed to explain gene overlap origination the evolutionary basis of these phenomenon are still not well understood. Here, we present results of the comparative analysis of several vertebrate genomes. The purpose of this study was to examine overlapping genes in the context of their evolution and mechanisms leading to their origin. Results Based on the presence and arrangement of human overlapping genes orthologs in rodent and fish genomes we developed 15 theoretical scenarios of overlapping genes evolution. Analysis of these theoretical scenarios and close examination of genomic sequences revealed new mechanisms leading to the overlaps evolution and confirmed that many of the vertebrate gene overlaps are not conserved. This study also demonstrates that repetitive elements contribute to the overlapping genes origination and, for the first time, that evolutionary events could lead to the loss of an ancient overlap. Conclusion Birth as well as most probably death of gene overlaps occurred over the entire time of vertebrate evolution and there wasn't any rapid origin or 'big bang' in the course of overlapping genes evolution. The major forces in the gene overlaps origination are transposition and exaptation. Our results also imply that origin of overlapping genes is not an issue of saving space and contracting genomes size.

  13. The Symbiodinium kawagutii genome illuminates dinoflagellate gene expression and coral symbiosis

    DEFF Research Database (Denmark)

    Lin, Senjie; Cheng, Shifeng; Song, Bo

    2015-01-01

    formation, novel promoter elements, and a microRNA system potentially regulating gene expression in both symbiont and coral.We found biochemical complementarity between genomes of S. kawagutii and the anthozoan Acropora, indicative of host-symbiont coevolution, providing a resource for studying......Dinoflagellates are important components of marine ecosystems and essential coral symbionts, yet little is known about their genomes. We report here on the analysis of a high-quality assembly from the 1180-megabase genome of Symbiodinium kawagutii. We annotated protein-coding genes and identified...... Symbiodinium-specific gene families. No whole-genome duplication was observed, but instead we found active (retro) transposition and gene family expansion, especially in processes important for successful symbiosis with corals. We also documented genes potentially governing sexual reproduction and cyst...

  14. The roles played by mitochondrial DNA and nuclear genes in reversion to fertility in S-Type male-sterile maize. Progress report, April 1, 1985--March 31, 1989

    Energy Technology Data Exchange (ETDEWEB)

    Laughnan, J.R.

    1995-03-01

    This is a progress report/renewal request for work of the roles played by mitochondrial DNA and nuclear genes in reversion to fertility in s-type male sterile maize. Information is included for the following major catagories of research on this project: molecular basis for nuclear reversion; molecular characterization of cytoplasmic revertants; nuclear control over cytoplasmic reversion and over replication of S1 and S2; developmental studies; transposition of nuclear restorer elements.

  15. Retalho venoso unipediculado transposto comparado ao não transposto: estudo experimental em coelhos Evaluation of unipediculated venous flap with and without transposition

    Directory of Open Access Journals (Sweden)

    Alfredo Benjamim Duarte da Silva

    2000-01-01

    Full Text Available Retalhos venosos são aqueles que apresentam em seu pedículo apenas uma veia, diferente dos retalhos convencionais que são caracterizados por entrada de sangue arterial e saída de sangue venoso. O objetivo deste trabalho foi determinar se a transposição do retalho venoso unipediculado modifica a sua área de sobrevida e vascularização. As orelhas de oito coelhos foram submetidas à realização de retalhos venosos. Dissecou-se um retalho de pele de dois por dois centímetros baseado no pedículo distal da veia marginal anterior. Os retalhos foram divididos em dois grupos: no grupo I(n=8, os retalhos venosos foram levantados e suturados na mesma posição; no grupo II (n=8, os retalhos foram levantados e transpostos 90 graus. Estes dois grupos foram comparados entre si e ao grupo III(n=8, no qual foi realizado enxerto de pele com subcutâneo sobre um leito bem vascularizado. A área média de necrose no grupo I (6,5% foi significativamente menor que no grupo II (43,75%, e as áreas de necrose dos grupos I e II foram significativamente menor do que no grupo III (88,75%. O estudo angiográfico não mostrou alterações no padrão vascular comparando-se os grupos I e II. A veia marginal anterior foi importante para a sobrevida do retalho. Houve uma maior área de necrose do grupo II, em que foi realizada transposição, em relação ao grupo I.Conventional flaps are caracterized by arterial blood inflow and venous blood outflow. Venous flaps have only one vein in their pedicle. Determination of survival area and vascularization in transpositioned venous flaps is the aim of this study. A 2x2 cm² skin flap, based in the distal pedicle of anterior marginal vein, was performed in 8 rabbits ears. The flaps were divided in two groups: group I (n=8-the flaps were elevated are fixated in the same position.; group II (n=8-the flaps were elevated and transpositioned in 90°. These two groups were compared in between and with group III (n=8, in which

  16. D’une culture à l’autre : réflexions sur la transposition des clichés et des stéréotypes

    OpenAIRE

    Amossy, Ruth

    2015-01-01

    Cette étude explore les problèmes que soulève la traduction des clichés d'un point de vue rhétorique. Entendu comme une expression usée et une figure de style banalisée qui ne possède pas nécessairement un équivalent exact dans la langue cible, le cliché appelle une transposition plutôt qu'une traduction. Ce qui est en jeu est la capacité de la formulation nouvelle à toucher et influencer le lecteur. Dans ce cadre, notre essai cherche à trouver les paramètres d'une transposition efficace en t...

  17. Complete resolution of systemic venous baffle obstruction and baffle leak using the Gore Excluder covered stent in two patients with transposition of the great arteries and prior Mustard procedure.

    Science.gov (United States)

    Hill, Kevin D; Fudge, J Curt; Rhodes, John F

    2010-11-15

    We present two patients with a history of Mustard repair of transposition of the great arteries. Both patients presented with exertional limitation and demonstrated superior systemic venous baffle obstruction as well as multiple baffle leaks. In both patients stent relief of obstruction and baffle leak exclusion was accomplished using a combination of bare metal stents and the aortic extension portion of the Gore Excluder covered stent (W.L. Gore and Associates, Flagstaff, Arizona). Copyright © 2010 Wiley-Liss, Inc.

  18. In utero Plastic Surgery in Zurich: Successful Use of Distally Pedicled Random Pattern Transposition Flaps for Definitive Skin Closure during Open Fetal Spina Bifida Repair.

    Science.gov (United States)

    Meuli, Martin; Meuli-Simmen, Claudia; Mazzone, Luca; Tharakan, Sasha J; Zimmermann, Roland; Ochsenbein, Nicole; Moehrlen, Ueli

    2017-12-20

    One of the intraoperative challenges of fetal spina bifida repair is skin closure when there is an extended skin defect. Thus, we examined whether distally pedicled random pattern transposition flaps (TFs) are a valid option to overcome this problem. All patients undergoing in utero repair of spina bifida with application of a TF for back skin closure were analyzed focusing on intraoperative flap characteristics and postoperative flap performance. In 30 (70%) of the 43 fetuses a primary skin closure was achieved, in 5 (12%) a skin substitute was used, and in 8 (18%) a TF was applied. Flap raising and insertion was uneventful and perfusion was sufficient in all 8 fetuses (100%). In 3 fetuses (37%) the donor sites were closed primarily, and in 5 (63%) a skin substitute was used for coverage. At birth, 7 flaps were viable and provided robust skin coverage over the center of the former lesion. Complications included a small skin defect with CSF leakage in 1 patient (13%). During open fetal spina bifida repair, TFs can be safely and efficaciously used to obtain solid and durable skin coverage over lesions too large to allow conventional primary skin closure. © 2017 S. Karger AG, Basel.

  19. Interaction between transposable phages: cip locus of prophage D3112, responsible for inhibition of integration and transposition of the related phage B39 of Pseudomonas aeruginosa

    International Nuclear Information System (INIS)

    Gerasimov, V.A.; Yanenko, A.S.; Akhverdyan, V.Z.; Krylov, V.N.

    1986-01-01

    Bacteriophage D3112 forms two types of PA01 (D3112) lysogens: those that partially, or completely, limit the growth of the related heteroimmune phage B39. DNA/DNA hybridization has shown that the lysogens of the first type always contain one copy of prophage D3112 (monolysogens), and the lysogens of the second type contain two or more copies of prophage D3112. Limitation of the growth of phage B39 on PA01 (D3112) lysogens is associated with the functioning of the locus of prophage D3112, designated as cip (control of interaction of phages). Using deletion derivatives of plasmid RP4::D3112, the cip locus was mapped at an interval of 1.3-2.45 kb of the D3112 genome. The expression of the cip locus occurs only if the D3112 genome is at the prophage state. The function of the Cip prophage of D3112 exerts an influence on early stages of development of phage B39, decreasing the efficiency of the integration and transposition processes of phage B39

  20. «On the Origin of Species»: Didactic transposition to the curriculum and Portuguese science textbooks (1859-1959

    Directory of Open Access Journals (Sweden)

    Bento Cavadas

    2017-07-01

    Full Text Available This research aimed to contribute to the history of the teaching of Darwinism in the Portuguese curriculum from 1859 to 1959. To this end, it was analysed the didactic transposition of the book On the Origin of Species for the standards and textbooks of Natural Sciences of secondary education. This study showed that some standards did not address Darwinism (Standards of 1856, 1872, 1880, 1886, 1926 and 1929, while others only prescribed the study of some subjects of Darwinism (Standards of 1889 and 1905. The standards of 1895 were the ones that addressed more Darwinists ideas in the 19th century. In the 20th century, the overall approach to Darwinism was related to the study of transformist ideas (Standards of 1919 or evolution (Standards of 1936 and 1954. However, even when the respective standards did not make that prescription, the major part of textbooks addressed the mechanisms of Darwinian evolution: adaptation, variability, growth correlations, heredity, natural selection, vital competition, geographic isolation and sexual selection.

  1. Impact of Transposition of the Directive 2013/34/EU into the National Laws of EU Member States Emphatically V4

    Directory of Open Access Journals (Sweden)

    Jana Gláserová

    2017-01-01

    Full Text Available The European Union has published the Directive 2013/34/EU of the European Parliament and of the Council of 26 June 2013 on the annual financial statements, consolidated financial statements and related reports of certain types of undertakings for reasons of increasing of the competitive advantage and productivity of small and medium‑sized enterprises. The EU Member States have to incorporate the rules of the Directive with their national law by 20 July 2015 at the latest during the year 2016. The intention of this paper is to determine and to evaluate the impacts of transposition of the Directive into the Czech Accounting Law and into the national accounting laws of EU Member States chosen. There is an identification of main differences of Czech Accounting Law and of amended Czech Accounting Law issued 1st of January 2016. There is an impact of implementation of the Directive 2013/34/EU on financial statements and at the same time on requirements of audit for individual categories of Czech accounting entities. In this paper, there is also an analysis of impact of the Directive 2013/34/EU on national accounting laws V4 States and on several further EU Member States. On the basis of comparison of differences recognized, there is an deduction of findings for companies falling into the same group.

  2. HeartWare Ventricular Assist Device Placement in a Patient With Corrected Dextro-Transposition of Great Arteries: A Case Report and Its Clinical Challenges.

    Science.gov (United States)

    Sehgal, Sankalp; Ramachandran, Sujatha; Leff, Jonathan D

    2015-09-01

    Given the improved survival in patients with corrected dextro-transposition of great arteries (D-TGA), it has evolved into an adult congenital heart defect. It is important to understand the management and complications observed in this population that eventually progresses to systemic ventricular failure requiring cardiac transplantation. Our case focuses on the rapid right ventricle (RV) deterioration of a patient with corrected D-TGA following a surgical procedure requiring systemic support. With such patients awaiting heart transplantation, there are limited assist devices available for RV support and no right ventricular assist device is approved for destination therapy yet. Current indications for implantation of the HeartWare ventricular assist device (HVAD) are limited by the Food and Drug Administration (FDA) to the left ventricle support as a bridge to transplantation. However, its use in the United States for right-sided support has rarely been described for adult congenital defects. In this case, a HeartWare assist device was used to provide systemic support as a bridge to cardiac transplant. The size and implantation design of the HVAD makes it a promising option for patients with this challenging patient population and RV failure as a late complication. © The Author(s) 2015.

  3. Radiation-induced leukemogenesis in RFM/UN strain mice: a potential model for retrovirus sequence transposition

    International Nuclear Information System (INIS)

    Tennant, R.W.; Hand, R.E. Jr.; Otten, J.A.; Liou, R.; Kiggans, J.O. Jr.; Yang, W.K.; Wang, T.W.

    1982-01-01

    Analysis of various tissues from normal and tumor-bearing mice, including bone marrow, spleen, thymus, and embryonic cells, showed low-level expression of viral p 30 protein or an infectious type C virus. However, It was possible to cultivate and establish cell lines from embryonic tissues and adult thymuses that were virus-negative but which could be chemically induced to express retrovirus. In all cases, only ecotropic virus with N-tropic host range was detected, and the production of a similar virus was detected in transplantable myeloid leukemia cells. Virus isolates of RFM/Un endogenous origin showed good infectivity in most Fv-1/sup n/ cells such as NIH Swiss mouse embryo cells but were severely restricted in Fv-1/sub f/ cells, confirming the N-tropic host range; in addition, the replication of this RFM/Un endogenous N-tropic virus (RFV) was preferentially restricted in RFM/Un cells which are of the Fv-1/sup n/ genotype. The restriction of RFM/Un cells for RFV was analyzed at the stage of viral DNA formation by means of a modified Hirt extraction procedure and the electrophoresis/diazobenzyloxymethyl-paper transfer/molecular hybridization method; it was found that synthesis of both linear and covalently closed circular forms of viral DNA, either by RFV or by WN1802B B-tropic virus, was markedly inhibited in RFM/Un cells relative to that of Gross virus. Analysis by restriction endonuclease EcoR1 digestion demonstration that nuclear DNA of RFM/Un cells contained multiple copies of endogenous type C retroviral genes, including distinct retroviral sequence not found in NIH Swiss cells which never express endogenous ecotropic viruses. These results suggest that the RFM/Un mouse may possess only one inducible ecotropic host-range class of inducible virus and a unique gene, possibly an allele of the Fv-1 locus, which specifically restricts endogenous virus

  4. [Mobile ISCR elements: structure, functions, and role in the emergence, increasing and spreading of blocks of bacterial genes of multiple antibiotic resistance].

    Science.gov (United States)

    Il'ina, T S

    2012-01-01

    The recently discovered method of horizontal distribution of bacterial genes with atypical ISCR sequences is reviewed using an example of drug resistance genes. The adjacent DNA segment mobilization is provided by the transposition of such elements, including rolling circle replication, formation of autonomous nonreplicable circular structures, and homological recombination. The gene distribution capacity with the ISCR elements is more significant than the capacity of transposons and integrons, thereby providing formation of groups of mobile genes, including antibiotic-resistance genes of pathogenic bacteria. The structure and functions of the ISCR elements were discussed together with their similarity and dissimilarity with the group of IS91-similar elements and their role in the emergence of blocks of bacterial genes encoding of multiple antibiotic resistance and their contribution to evolution of bacterial and plasmid genes.

  5. IS21-558 Insertion Sequences Are Involved in the Mobility of the Multiresistance Gene cfr▿

    Science.gov (United States)

    Kehrenberg, Corinna; Aarestrup, Frank M.; Schwarz, Stefan

    2007-01-01

    During a study of florfenicol-resistant porcine staphylococci from Denmark, the genes cfr and fexA were detected in the chromosomal DNA or on plasmids of Staphylococcus hyicus, Staphylococcus warneri, and Staphylococcus simulans. A novel variant of the phenicol resistance transposon Tn558 was detected on the ca. 43-kb plasmid pSCFS6 in S. warneri and S. simulans isolates. Sequence analysis of a 22,010-bp segment revealed that the new Tn558 variant harbored an additional resistance gene region integrated into the tnpC reading frame. This resistance gene region consisted of the clindamycin exporter gene lsa(B) and the gene cfr for combined resistance to phenicols, lincosamides, oxazolidinones, pleuromutilins, and streptogramin A antibiotics bracketed by IS21-558 insertion sequences orientated in the same direction. A 6-bp target site duplication was detected at the integration site within tnpC. Transpositionally active forms of the IS21-558 element, known as minicircles, were detected by PCR and suggest that this insertion sequence is involved in the mobility of the multiresistance gene cfr. Based on the knowledge of the transposition pathways of IS21-like insertion sequences and the sequence features detected, the resistance gene region of plasmid pSCFS6 is believed to have developed via IS21-558-mediated cointegrate formation. The data obtained in this study identified the multiresistance gene cfr not only in three novel host species but also in a novel genetic context whose further analysis suggested that insertion sequences of the type IS21-558 are likely to be involved in the dissemination of cfr. PMID:17145796

  6. Divergence of gene regulation through chromosomal rearrangements

    Directory of Open Access Journals (Sweden)

    Messing Joachim

    2010-11-01

    Full Text Available Abstract Background The molecular mechanisms that modify genome structures to give birth and death to alleles are still not well understood. To investigate the causative chromosomal rearrangements, we took advantage of the allelic diversity of the duplicated p1 and p2 genes in maize. Both genes encode a transcription factor involved in maysin synthesis, which confers resistance to corn earworm. However, p1 also controls accumulation of reddish pigments in floral tissues and has therefore acquired a new function after gene duplication. p1 alleles vary in their tissue-specific expression, which is indicated in their allele designation: the first suffix refers to red or white pericarp pigmentation and the second to red or white glume pigmentation. Results Comparing chromosomal regions comprising p1-ww[4Co63], P1-rw1077 and P1-rr4B2 alleles with that of the reference genome, P1-wr[B73], enabled us to reconstruct additive events of transposition, chromosome breaks and repairs, and recombination that resulted in phenotypic variation and chimeric regulatory signals. The p1-ww[4Co63] null allele is probably derived from P1-wr[B73] by unequal crossover between large flanking sequences. A transposon insertion in a P1-wr-like allele and NHEJ (non-homologous end-joining could have resulted in the formation of the P1-rw1077 allele. A second NHEJ event, followed by unequal crossover, probably led to the duplication of an enhancer region, creating the P1-rr4B2 allele. Moreover, a rather dynamic picture emerged in the use of polyadenylation signals by different p1 alleles. Interestingly, p1 alleles can be placed on both sides of a large retrotransposon cluster through recombination, while functional p2 alleles have only been found proximal to the cluster. Conclusions Allelic diversity of the p locus exemplifies how gene duplications promote phenotypic variability through composite regulatory signals. Transposition events increase the level of genomic complexity

  7. Influence of transposition and insertion of additional binding domain on expression and characteristics of xylanase C of Clostridium thermocellum.

    Science.gov (United States)

    Khan, M Imran Mahmood; Sajjad, Muhammad; Ali, Imran; Ahmad, Sajjad; Akhtar, M Waheed

    2010-10-01

    Clostridium thermocellum encodes a xylanase gene (xynC) which is the major component of its cellulosome. XynC is a multidomain enzyme comprising of a substrate binding domain at the N-terminal followed by the catalytic domain and a dockerin domain. To study the influence of binding domain on activity, stability and expression of the enzyme the protein with the binding domain at C-terminal (XynC-CB), and the one with the binding domain at both N- and C-terminal (XynC-BCB) were expressed in E. coli. Recombinant plasmids, pXynC-CB and pXynC-BCB were constructed by inserting the corresponding gene in pET22b(+). XynC-CB and XynC-BCB were expressed at levels around 30% and 33% of the total E. coli cell proteins, respectively, while losing 40% and 20% of their activities at 70°C for 120 min, respectively. The specific activities of XynC-CB, XynC-BCB were 76 and 98 U mg(-1), while the activities on equimolar basis were 4410 and 7450 U μM(-1) against birchwood xylan, respectively. Their overall activities produced in the culture were 3660 and 5430 U L(-1) OD(600)(-1). Substrate binding studies showed that in case of XynC-C 51% of the activity remained unbound to birchwood xylan, whereas in the cases of XynC-BC, XynC-CB and XynC-BCB the activities left unbound were 33%, 32% and 12%, respectively, under the assay conditions used. Similar binding values were obtained in the case of oat spelt xylan. K(m) values for XynC-CB and XynC-BCB against birchwood xylan were found to be 3.1 and 1.47 mg ml(-1), respectively. Thus addition of a second carbohydrate binding domain at the C-terminal of the catalytic domain enhances activity, substrate affinity as well as thermostability. Copyright © 2010 Elsevier B.V. All rights reserved.

  8. IS-seq: a novel high throughput survey of in vivo IS6110 transposition in multiple Mycobacterium tuberculosis genomes

    Directory of Open Access Journals (Sweden)

    Reyes Alejandro

    2012-06-01

    Full Text Available Abstract Background The insertion element IS6110 is one of the main sources of genomic variability in Mycobacterium tuberculosis, the etiological agent of human tuberculosis. Although IS 6110 has been used extensively as an epidemiological marker, the identification of the precise chromosomal insertion sites has been limited by technical challenges. Here, we present IS-seq, a novel method that combines high-throughput sequencing using Illumina technology with efficient combinatorial sample multiplexing to simultaneously probe 519 clinical isolates, identifying almost all the flanking regions of the element in a single experiment. Results We identified a total of 6,976 IS6110 flanking regions on the different isolates. When validated using reference strains, the method had 100% specificity and 98% positive predictive value. The insertions mapped to both coding and non-coding regions, and in some cases interrupted genes thought to be essential for virulence or in vitro growth. Strains were classified into families using insertion sites, and high agreement with previous studies was observed. Conclusions This high-throughput IS-seq method, which can also be used to map insertions in other organisms, extends previous surveys of in vivo interrupted loci and provides a baseline for probing the consequences of disruptions in M. tuberculosis strains.

  9. Gene conversion of two functional goat alpha-globin genes preserves only minimal flanking sequences.

    Science.gov (United States)

    Schon, E A; Wernke, S M; Lingrel, J B

    1982-06-25

    We have determined the complete nucleotide sequence of the nonallelic adult goat I alpha- and II alpha-globin genes and, as is the case with the duplicated human alpha-to each other. Such high homology (99%) has most likely been preserved via a gene conversion mechanism. The conversion unit in goats is only about 9000 base pairs in length, and contained within this short region are all the known signals required for accurate and efficient transcription, with the CCAAT box adjacent to the 5'-boundary of the conversion unit and the poly(A) addition site adjacent to the 3' end. This conversion unit is also flanked by a 23-base-pair direct repeat "boundary sequence," vestiges of which are also observable in the human and mouse alpha-globin genes and pseudogenes. These direct repeats imply that a transposition-like event may have been responsible for the insertion of an ancestral alpha-like sequence into a new chromosomal locus, and that this insertion event and subsequent gene duplication may have predated the mammalian radiation.

  10. Outcomes after corrective surgery for congenital dextro-transposition of the great arteries using the arterial switch technique: a protocol for a scoping systematic review

    Science.gov (United States)

    Mbuagbaw, Lawrence; Forlemu-Kamwa, Doris; Chu, Angela; Thabane, Lehana; Dillenberg, Rejane

    2014-01-01

    Introduction Dextro-transposition of the great arteries (d-TGA) is a life-threatening congenital health defect that requires rapid surgery. The most widely used approach is the arterial switch operation (ASO) developed by Jatene in the 1970s. The first set of children who received this intervention are now adults. The objective of this scoping review of the literature was to document the short-term (less than 1 year), medium-term (1–20 years) and long-term (more than 20 years) outcomes in children who underwent the ASO. Our primary income is survival, but we will explore other secondary surgical, cardiovascular, reproductive and quality-of-life outcomes. Methods and analyses Using a systematic scoping review approach, we will conduct a systematic search of the published literature for experimental and observational studies published on children who received the ASO intervention for classic d-TGA. We will search MEDLINE, Excerpta Medica Database (EMBASE), Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Literatura Latino Americana em Ciências da Saúde (LILACS) from 1973 (date of the first successful ASO) to February 2014. Identified articles will be screened in duplicate and full text for selected articles will be retrieved. Data extraction will be carried out in duplicate. Discrepancies will be resolved by consensus or by consulting a third author. Where possible, proportions will be pooled using the inverse variance method. Our findings will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Meta-analysis Of Observational studies in Epidemiology (MOOSE) guidelines. Ethics and dissemination The results of this paper will be disseminated as peer-reviewed publications, at conferences and at clinical rounds. Our findings may answer important questions for surgeons who perform the ASO intervention and for clinicians who take care of patients after surgery and throughout their

  11. Impaired atrioventricular transport in patients with transposition of the great arteries palliated by atrial switch and preserved systolic right ventricular function: A magnetic resonance imaging study.

    Science.gov (United States)

    Ladouceur, Magalie; Kachenoura, Nadjia; Soulat, Gilles; Bollache, Emilie; Redheuil, Alban; Azizi, Michel; Delclaux, Christophe; Chatellier, Gilles; Boutouyrie, Pierre; Iserin, Laurence; Bonnet, Damien; Mousseaux, Elie

    2017-07-01

    We aimed (1) determine if systemic right ventricle filling parameters influence systemic right ventricle stroke volume in adult patients with D-transposition of the great arteries (D-TGA) palliated by atrial switch, using cardiac magnetic resonance imaging and echocardiography, and (2) to study relationship of these diastolic parameters with exercise performance and BNP, in patients with preserved systolic systemic right ventricle function. Single-center, cross-sectional, prospective study. In patients with D-TGA palliated by atrial switch, diastolic dysfunction of the systemic right ventricle may precede systolic dysfunction. Forty-five patients with D-TGA and atrial switch and 45 age and sex-matched healthy subjects underwent cardiac magnetic resonance imaging and echocardiography. Filling flow-rates measured by phase-contrast cardiac magnetic resonance imaging were analyzed using customized software to estimate diastolic parameters and compared with exercise performance. In D-TGA, early filling of systemic right ventricle was impaired with a lower peak filling rate normalized by filling volume (Ef/FV measured by cardiac magnetic resonance imaging) and a higher early filling peak velocity normalized by early peak myocardial velocity (E US /Ea measured by echocardiography) compared with controls (P ≤ .04). Stroke volume of systemic right ventricle showed a direct and significant association with pulmonary venous pathway size (respectively r = 0.50, P magnetic resonance imaging, as well as Ef/FV were significantly correlated with exercise performances and BNP (P magnetic resonance imaging should assess systemic right ventricle filling abnormalities in D-TGA patients. © 2017 Wiley Periodicals, Inc.

  12. Ileal transposition surgery produces ileal length-dependent changes in food intake, body weight, gut hormones and glucose metabolism in rats.

    Science.gov (United States)

    Ramzy, A R; Nausheen, S; Chelikani, P K

    2014-03-01

    Enhanced stimulation of the lower gut is hypothesized to play a key role in the weight loss and resolution of diabetes following bariatric surgeries. Ileal transposition (IT) permits study of the effects of direct lower gut stimulation on body weight, glucose homeostasis and other metabolic adaptations without the confounds of gastric restriction or foregut exclusion. However, the underlying mechanisms and the length of the ileum sufficient to produce metabolic benefits following IT surgery remain largely unknown. To determine the effects of transposing varying lengths of the ileum to upper jejunum on food intake, body weight, glucose tolerance and lower gut hormones, and the expression of key markers of glucose and lipid metabolism in skeletal muscle and adipose tissue in rats. Adult male Sprague-Dawley rats (n=9/group) were subjected to IT surgery with translocation of 5, 10 or 20 cm of the ileal segment to proximal jejunum or sham manipulations. Daily food intake and body weight were recorded, and an intraperitoneal glucose tolerance test was performed. Blood samples were assayed for hormones and tissue samples for mRNA (RT-qPCR) and/or protein abundance (immunoblotting) of regulatory metabolic markers. We demonstrate that IT surgery exerts ileal length-dependent effects on multiple parameters including: (1) decreased food intake and weight gain, (2) improved glucose tolerance, (3) increased tissue expression and plasma concentrations of glucagon-like peptide-1 (GLP-1) and peptide YY (PYY), and decreased leptin concentrations and (4) upregulation of key markers of glucose metabolism (glucose transporter-4 (GLUT-4), insulin receptor substrate 1 (IRS-1), adenosine monophosphate-activated protein kinase (AMPK), hexokinase (HK) and phosphofructokinase (PFK)) together with a downregulation of lipogenic markers (fatty acid synthase (FAS)) in muscle and adipose tissue. Together, our data demonstrate that the reduction in food intake and weight gain, increase in lower

  13. Effects of sleeve gastrectomy and ileal transposition, alone and in combination, on food intake, body weight, gut hormones, and glucose metabolism in rats.

    Science.gov (United States)

    Nausheen, S; Shah, I H; Pezeshki, A; Sigalet, D L; Chelikani, P K

    2013-08-15

    Bariatric surgeries are hypothesized to produce weight loss and improve diabetes control by multiple mechanisms including gastric restriction and lower gut stimulation; the relative importance of these mechanisms remains poorly understood. We compared the effects of a typical foregut procedure, sleeve gastrectomy, (SG) with a primarily hindgut surgery, ileal transposition (IT), alone and together (SGIT), or sham manipulations, on food intake, body weight, gut hormones, glucose tolerance, and key markers of glucose homeostasis in peripheral tissues of adult male Sprague-Dawley rats (450-550 g, n = 7-9/group). SG, IT, and SGIT surgeries produced transient reduction in food intake and weight gain; the effects of SG and IT on intake and body weight were nonadditive. SG, IT, and SGIT surgeries resulted in increased tissue expression and plasma concentrations of the lower gut hormones glucagon-like peptide-1 and peptide YY and decreased plasma glucose-dependent insulinotropic peptide, insulin, and leptin concentrations. Despite transient effects on intake and weight gain, the SG, IT, and SGIT surgeries produced a significant improvement in glucose tolerance. In support of glycemic improvements, the protein abundance of key markers of glucose metabolism (e.g., GLUT4, PKA, IRS-1) in muscle and adipose tissue were increased, whereas the expression of key gluconeogenic enzyme in liver (G-6-Pase) were decreased following the surgeries. Therefore, our data suggest that enhanced lower gut stimulation following SG, IT, and SGIT surgeries leads to transient reduction in food intake and weight gain together with enhanced secretion of lower gut hormones and improved glucose clearance by peripheral tissues.

  14. Right ventricular function and N-terminal pro-brain natriuretic peptide levels in adult patients with simple dextro-transposition of the great arteries.

    Science.gov (United States)

    Martínez-Quintana, Efrén; Marrero-Negrín, Natalia; Gopar-Gopar, Silvia; Rodríguez-González, Fayna

    2017-06-01

    Dextro-transposition of the great arteries (d-TGA) patients is at high risk of developing right ventricular dysfunction and tricuspid regurgitation in adulthood. Determining the relation between echocardiographic parameters, N-terminal pro-brain natriuretic peptide (NT-pro-BNP) levels and the New York Heart Association (NYHA) functional class may help determining the best time to operate them. Patients with simple d-TGA operated in infancy with an atrial switch procedure (Mustard or Senning operation) were followed up in our Adult Congenital Heart Disease Unit. Analytical, echocardiographic, and clinical parameters were determined to evaluate the correlation between right echocardiographic ventricular function, NT-pro-BNP levels, and NYHA functional class. Twenty-four patients with d-TGA were operated in infancy of whom 17 alive patients had simple d-TGA. Nine patients had NT-pro-BNP levels lower than 200 pg/mL and eight patients were above 200 pg/mL. Patients with lower hemoglobin concentration, higher right ventricular diameter or under diuretic treatment showed significant higher NT-pro-BNP levels (above 200 pg/dL). The Spearman test showed a positive correlation between basal right ventricular diameter and tricuspid regurgitation with pro NT BNP levels (correlation coefficient of .624; P=.017 and .490; P=.046, respectively) and a negative correlation with the right ventricle fractional area change (-.508, P=.045). No correlation was seen between NT-pro-BNP levels and the rest of echocardiographic parameters or the NYHA functional class. NT-pro-BNP levels showed a positive correlation with basal right ventricular diameter and tricuspid regurgitation but not with NYHA association functional class in d-TGA patients. © 2017, Wiley Periodicals, Inc.

  15. Processing speed, executive function, and academic achievement in children with dextro-transposition of the great arteries: Testing a longitudinal developmental cascade model.

    Science.gov (United States)

    Cassidy, Adam R; White, Matthew T; DeMaso, David R; Newburger, Jane W; Bellinger, David C

    2016-10-01

    To establish executive function (EF) structure/organization and test a longitudinal developmental cascade model linking processing speed (PS) and EF skills at 8-years of age to academic achievement outcomes, both at 8- and 16-years, in a large sample of children/adolescents with surgically repaired dextro-transposition of the great arteries (d-TGA). Data for this study come from the 8- (n = 155) and 16-year (n = 139) time points of the Boston Circulatory Arrest Study and included WISC-III, Trail Making Test, Test of Variables of Attention, and WIAT/WIAT-II tasks. A 2-factor model (Working Memory/Inhibition and Shifting) provided the best fit for the EF data, χ²(3) = 1.581, p = .66, RMSEA = 0, CFI = 1, NNFI = 1.044). Working Memory/Inhibition and Shifting factors were not correlated. In the structural equation model, PS was directly related to both EF factors and Reading at 8 years, and was indirectly related to Math and Reading achievement, both concurrently and longitudinally, via its effects on Working Memory/Inhibition. Shifting at 8 years was significantly associated with Math (but not Reading) at 16 years. The academic difficulties experienced by children and adolescents with d-TGA may be driven, at least in part, by underlying deficits in processing speed and aspects of executive function. Intervention efforts aimed at bolstering these abilities, particularly if implemented early in development, may prove beneficial in improving academic outcomes and, perhaps by extension, in reducing the stress and diminished self-confidence often associated with academic underachievement. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  16. Comparison of the effects of Roux-en-Y gastric bypass and ileal transposition surgeries on food intake, body weight, and circulating peptide YY concentrations in rats.

    Science.gov (United States)

    Chelikani, Prasanth K; Shah, Imran H; Taqi, Esmaeel; Sigalet, David L; Koopmans, Henry H

    2010-09-01

    Roux-en-Y gastric bypass (RYGB) surgery is one of the most effective treatments for obesity producing long-term weight loss. The anorexia and weight loss from RYGB could be due to gastric restriction, malabsorption, enhanced lower gut stimulation, increased energy expenditure, and/or other metabolic adaptations. In ileal transposition (IT) surgery, a segment of the ileum is transposed to the upper jejunum with no gastric restriction or malabsorption. Our objective is to compare the effects of RYGB and IT surgeries on food intake, body weight, and plasma concentrations of the anorexigenic lower gut hormone Peptide YY (PYY) in rats. Adult male Sprague-Dawley rats were subjected to either RYGB (n = 9), IT (n = 9) or sham surgeries (n = 16). A subset of sham animals were either pair-fed to RYGB (n = 9) or ad lib fed (n = 7) on a highly palatable mixed nutrient liquid food (Ensure). Food intake, body weight and plasma PYY concentrations were measured. The data demonstrate that (1) RYGB produces a sustained reduction in food intake and weight gain, (2) the anorexic effects of IT are relatively transient lasting for 5 weeks, (3) the reduction in weight gain resulting from IT is similar to that of animals pair-fed to RYGB, and (4) RYGB and IT surgeries are associated with elevated postprandial plasma PYY concentrations. We demonstrate in our rat models that RYGB surgery produces a greater reduction in food intake and weight gain than IT surgery, and that both surgeries are associated with enhanced plasma concentrations of Peptide YY.

  17. [Quality of 3D magnetic resonance imaging of coronary arteries in patients with D-transposition of the great arteries after the Jatene switch procedure].

    Science.gov (United States)

    Marín Rodríguez, C; Lancharro Zapata, Á; Rodríguez Ogando, A; Carrasco Muñoz, S; Ruiz Martín, Y; Sánchez Alegre, M L; Maroto Alvaro, E

    2015-01-01

    To evaluate the quality of images obtained with 3D balanced fast-field echo whole heart (WH3D) MRI sequences for assessing the coronary anastomosis and coronary stenosis in patients with D-transposition of the great arteries who have undergone the Jatene switch procedure. We retrieved 100 WH3D studies done in 83 patients who had undergone the Jatene switch procedure from our pediatric cardiac MRI database; 84 of these studies fulfilled the criteria for inclusion in the study. We evaluated coronary stenoses on WH3D MR images and their correlation with coronary CT or angiography images. We retrospectively studied the quality of the images of the proximal coronary arteries using a four-point scale and correlating the findings with age, heart rate, and heart size. Of the 84 studies, 4 (4.8%) were of a quality considered «insufficient for diagnosis», 7 (8.3%) were considered «fair», 23 (27.4%) «good», and 50 (59.5%) «excellent». The quality of the image of the coronary arteries was significantly correlated with heart rate. MRI detected stenosis in the origin of the coronary arteries in 9 (10.7%) studies. Images obtained with the WH3D MRI sequence in patients who had undergone the Jatene procedure were of diagnostic quality in most cases and were better in patients with lower heart rates. In 10.7%, stenosis in the origin of the coronary arteries that required new studies was detected. Copyright © 2014 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

  18. Mid-term follow-up of patients with transposition of the great arteries after atrial inversion operation using two- and three-dimensional magnetic resonance imaging

    International Nuclear Information System (INIS)

    Fogel, Mark A.; Weinberg, Paul M.; Hubbard, Anne

    2002-01-01

    Background: Older patients with transposition of the great arteries who have undergone an atrial inversion procedure (ATRIAL-INV) are difficult to image by echocardiography. The surgical baffles are spatially complex. Objective: To test the hypothesis that two- and three-dimensional MRI can elucidate the spatially complex anatomy in this patient population. Materials and methods; Twelve patients with ATRIAL-INV, ages 16±4.5 years, underwent routine T1-weighted spin-echo axial imaging to obtain a full cardiac volumetric data set. Postprocessing created three-dimensional shaded surface displays and allowed for multiplanar reconstruction. Routine transthoracic echocardiography was available on all patients. Results: Three-dimensional reconstruction enabled complete spatial conceptualization of the venous pathways, and allowed for precise localization of a narrowed region in the upper limb of the systemic venous pathway found in two patients. This was subsequently confirmed on angiography. Routine MRI was able to image the full extent of the venous pathways in all 12 patients. Routine transthoracic echocardiography was able to visualize proximal portions of the venous pathways in eight (67%), the distal upper limb in five (42%), and the distal lower limb in four (33%) patients, and it was able to visualize the outflow tracts in all patients. Conclusion: Three-dimensional reconstruction adds important spatial information, which can be especially important in stenotic regions. Routine MRI is superior to transthoracic echocardiography in delineation of the systemic and pulmonary venous pathway anatomy of ATRIAL-INV patients at mid-term follow-up. Although transesophageal echocardiography is an option, it is more invasive. (orig.)

  19. Detection of Sleeping Beauty transposition in the genome of host cells by non-radioactive Southern blot analysis

    Energy Technology Data Exchange (ETDEWEB)

    Aravalli, Rajagopal N., E-mail: aravalli@umn.edu [Department of Radiology, University of Minnesota Medical School, MMC 292, 420 Delaware Street SE, Minneapolis, MN 55455 (United States); Park, Chang W. [Department of Medicine, University of Minnesota Medical School, MMC 36, 420 Delaware Street SE, Minneapolis, MN 55455 (United States); Steer, Clifford J., E-mail: steer001@umn.edu [Department of Medicine, University of Minnesota Medical School, MMC 36, 420 Delaware Street SE, Minneapolis, MN 55455 (United States); Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455 (United States)

    2016-08-26

    The Sleeping Beauty transposon (SB-Tn) system is being used widely as a DNA vector for the delivery of therapeutic transgenes, as well as a tool for the insertional mutagenesis in animal models. In order to accurately assess the insertional potential and properties related to the integration of SB it is essential to determine the copy number of SB-Tn in the host genome. Recently developed SB100X transposase has demonstrated an integration rate that was much higher than the original SB10 and that of other versions of hyperactive SB transposases, such as HSB3 or HSB17. In this study, we have constructed a series of SB vectors carrying either a DsRed or a human β-globin transgene that was encompassed by cHS4 insulator elements, and containing the SB100X transposase gene outside the SB-Tn unit within the same vector in cis configuration. These SB-Tn constructs were introduced into the K-562 erythroid cell line, and their presence in the genomes of host cells was analyzed by Southern blot analysis using non-radioactive probes. Many copies of SB-Tn insertions were detected in host cells regardless of transgene sequences or the presence of cHS4 insulator elements. Interestingly, the size difference of 2.4 kb between insulated SB and non-insulated controls did not reflect the proportional difference in copy numbers of inserted SB-Tns. We then attempted methylation-sensitive Southern blots to assess the potential influence of cHS4 insulator elements on the epigenetic modification of SB-Tn. Our results indicated that SB100X was able to integrate at multiple sites with the number of SB-Tn copies larger than 6 kb in size. In addition, the non-radioactive Southern blot protocols developed here will be useful to detect integrated SB-Tn copies in any mammalian cell type.

  20. Conditional gene expression in the mouse using a Sleeping Beauty gene-trap transposon

    Directory of Open Access Journals (Sweden)

    Hackett Perry B

    2006-06-01

    Full Text Available Abstract Background Insertional mutagenesis techniques with transposable elements have been popular among geneticists studying model organisms from E. coli to Drosophila and, more recently, the mouse. One such element is the Sleeping Beauty (SB transposon that has been shown in several studies to be an effective insertional mutagen in the mouse germline. SB transposon vector studies have employed different functional elements and reporter molecules to disrupt and report the expression of endogenous mouse genes. We sought to generate a transposon system that would be capable of reporting the expression pattern of a mouse gene while allowing for conditional expression of a gene of interest in a tissue- or temporal-specific pattern. Results Here we report the systematic development and testing of a transposon-based gene-trap system incorporating the doxycycline-repressible Tet-Off (tTA system that is capable of activating the expression of genes under control of a Tet response element (TRE promoter. We demonstrate that the gene trap system is fully functional in vitro by introducing the "gene-trap tTA" vector into human cells by transposition and identifying clones that activate expression of a TRE-luciferase transgene in a doxycycline-dependent manner. In transgenic mice, we mobilize gene-trap tTA vectors, discover parameters that can affect germline mobilization rates, and identify candidate gene insertions to demonstrate the in vivo functionality of the vector system. We further demonstrate that the gene-trap can act as a reporter of endogenous gene expression and it can be coupled with bioluminescent imaging to identify genes with tissue-specific expression patterns. Conclusion Akin to the GAL4/UAS system used in the fly, we have made progress developing a tool for mutating and revealing the expression of mouse genes by generating the tTA transactivator in the presence of a secondary TRE-regulated reporter molecule. A vector like the gene

  1. The Impact of Gene Silencing on Horizontal Gene Transfer and Bacterial Evolution.

    Science.gov (United States)

    Navarre, W W

    2016-01-01

    The H-NS family of DNA-binding proteins is the subject of intense study due to its important roles in the regulation of horizontally acquired genes critical for virulence, antibiotic resistance, and metabolism. Xenogeneic silencing proteins, typified by the H-NS protein of Escherichia coli, specifically target and downregulate expression from AT-rich genes by selectively recognizing specific structural features unique to the AT-rich minor groove. In doing so, these proteins facilitate bacterial evolution; enabling these cells to engage in horizontal gene transfer while buffering potential any detrimental fitness consequences that may result from it. Xenogeneic silencing and counter-silencing explain how bacterial cells can evolve effective gene regulatory strategies in the face of rampant gene gain and loss and it has extended our understanding of bacterial gene regulation beyond the classic operon model. Here we review the structures and mechanisms of xenogeneic silencers as well as their impact on bacterial evolution. Several H-NS-like proteins appear to play a role in facilitating gene transfer by other mechanisms including by regulating transposition, conjugation, and participating in the activation of virulence loci like the locus of enterocyte effacement pathogenicity island of pathogenic strains of E. coli. Evidence suggests that the critical determinants that dictate whether an H-NS-like protein will be a silencer or will perform a different function do not lie in the DNA-binding domain but, rather, in the domains that control oligomerization. This suggests that H-NS-like proteins are transcription factors that both recognize and alter the shape of DNA to exert specific effects that include but are not limited to gene silencing. © 2016 Elsevier Ltd All rights reserved.

  2. Tol2-mediated transgenesis, gene trapping, enhancer trapping, and Gal4-UAS system.

    Science.gov (United States)

    Kawakami, K; Asakawa, K; Muto, A; Wada, H

    2016-01-01

    The Tol2 element is an active transposon that was found from the genome of the Japanese medaka fish. Since the Tol2 transposition system is active in all vertebrate cells tested so far, it has been applied to germ line transgenesis in various model animals including fish, frog, chicken, and mouse, and to gene transfer in culture cells. In zebrafish, the Tol2 system consists of the transposase mRNA and a Tol2 transposon-donor plasmid, and is introduced into fertilized eggs by microinjection. Thus genomic integrations of the Tol2 construct are generated in the germ lineage and transmitted to the offspring very efficiently. By using the Tol2 transposition system, we have developed important genetic methods, such as transgenesis, gene trapping, enhancer trapping, and the Gal4-UAS system in zebrafish and applied to many aspects of biological studies. In this chapter, we describe how these methods are performed. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Transposition and Didactic Mediation at Fractions Teaching Transposição e Mediação Didática no Ensino de Frações

    Directory of Open Access Journals (Sweden)

    Diogo Sant’Anna

    2008-02-01

    Full Text Available In the context of collaborative research focusing on the practices of fifth grade teachers, the present study presents an analysis of some curricular documents and textbooks on one specific subject: fractions. Considering the specificity of school knowledge, we aim to identify the objectives and the approaches to teaching this subject as indicated in curricular documents. Using the notions of didactic transposition and didactic mediation, we have identified some curricular instances that influence the transposition processes, seeking to exemplify their complexity. Keywords: Collaborative Research. Fractions. Didactic Transposition.No contexto de uma pesquisa colaborativa com foco principal na análise de práticas docentes de professores de matemática na quinta série escolar, apresentamos no presente uma análise de documentos curriculares e de textos didáticos atuais, centrada em um objeto de ensino, as frações. A partir da consideração da especificidade do conhecimento escolar, visamos identificar os objetivos didáticos e as abordagens indicadas nos textos curriculares em relação a este objeto de ensino. Através das noções de transposição e de mediação didática, identificamos as instâncias curriculares presentes nos processos de transposição, procurando desta maneira exemplificar a complexidade de tais processos. Palavras-chave: Pesquisa Colaborativa. Ensino de Frações. Transposição Didática.

  4. Comments on the final report of the critical analysis of the Andra's program on researches performed in the Bure underground laboratory and the transposition zone to define a ZIRA, prepared by the IEER for the CLIS (March-April 2011)

    International Nuclear Information System (INIS)

    2011-07-01

    This report is an answer to the conclusions and recommendations of a report made by the IEER about researches performed in the field of deep geological storage of nuclear wastes. It also proposes an analysis of the whole content of this report. The IEER report addressed seismic data and seismic characterization of the transposition area, the characteristics and properties of host geological formations, rock mechanics, thermal aspects, and the comparison with other underground research programs aimed at the selection of a ZIRA (area of interest for deeper research for a future storage)

  5. Genome-wide target profiling of piggyBac and Tol2 in HEK 293: pros and cons for gene discovery and gene therapy

    Science.gov (United States)

    2011-01-01

    Background DNA transposons have emerged as indispensible tools for manipulating vertebrate genomes with applications ranging from insertional mutagenesis and transgenesis to gene therapy. To fully explore the potential of two highly active DNA transposons, piggyBac and Tol2, as mammalian genetic tools, we have conducted a side-by-side comparison of the two transposon systems in the same setting to evaluate their advantages and disadvantages for use in gene therapy and gene discovery. Results We have observed that (1) the Tol2 transposase (but not piggyBac) is highly sensitive to molecular engineering; (2) the piggyBac donor with only the 40 bp 3'-and 67 bp 5'-terminal repeat domain is sufficient for effective transposition; and (3) a small amount of piggyBac transposases results in robust transposition suggesting the piggyBac transpospase is highly active. Performing genome-wide target profiling on data sets obtained by retrieving chromosomal targeting sequences from individual clones, we have identified several piggyBac and Tol2 hotspots and observed that (4) piggyBac and Tol2 display a clear difference in targeting preferences in the human genome. Finally, we have observed that (5) only sites with a particular sequence context can be targeted by either piggyBac or Tol2. Conclusions The non-overlapping targeting preference of piggyBac and Tol2 makes them complementary research tools for manipulating mammalian genomes. PiggyBac is the most promising transposon-based vector system for achieving site-specific targeting of therapeutic genes due to the flexibility of its transposase for being molecularly engineered. Insights from this study will provide a basis for engineering piggyBac transposases to achieve site-specific therapeutic gene targeting. PMID:21447194

  6. Genome-wide target profiling of piggyBac and Tol2 in HEK 293: pros and cons for gene discovery and gene therapy

    Directory of Open Access Journals (Sweden)

    Yu Robert K

    2011-03-01

    Full Text Available Abstract Background DNA transposons have emerged as indispensible tools for manipulating vertebrate genomes with applications ranging from insertional mutagenesis and transgenesis to gene therapy. To fully explore the potential of two highly active DNA transposons, piggyBac and Tol2, as mammalian genetic tools, we have conducted a side-by-side comparison of the two transposon systems in the same setting to evaluate their advantages and disadvantages for use in gene therapy and gene discovery. Results We have observed that (1 the Tol2 transposase (but not piggyBac is highly sensitive to molecular engineering; (2 the piggyBac donor with only the 40 bp 3'-and 67 bp 5'-terminal repeat domain is sufficient for effective transposition; and (3 a small amount of piggyBac transposases results in robust transposition suggesting the piggyBac transpospase is highly active. Performing genome-wide target profiling on data sets obtained by retrieving chromosomal targeting sequences from individual clones, we have identified several piggyBac and Tol2 hotspots and observed that (4 piggyBac and Tol2 display a clear difference in targeting preferences in the human genome. Finally, we have observed that (5 only sites with a particular sequence context can be targeted by either piggyBac or Tol2. Conclusions The non-overlapping targeting preference of piggyBac and Tol2 makes them complementary research tools for manipulating mammalian genomes. PiggyBac is the most promising transposon-based vector system for achieving site-specific targeting of therapeutic genes due to the flexibility of its transposase for being molecularly engineered. Insights from this study will provide a basis for engineering piggyBac transposases to achieve site-specific therapeutic gene targeting.

  7. Genome-wide target profiling of piggyBac and Tol2 in HEK 293: pros and cons for gene discovery and gene therapy.

    Science.gov (United States)

    Meir, Yaa-Jyuhn J; Weirauch, Matthew T; Yang, Herng-Shing; Chung, Pei-Cheng; Yu, Robert K; Wu, Sareina C-Y

    2011-03-30

    DNA transposons have emerged as indispensible tools for manipulating vertebrate genomes with applications ranging from insertional mutagenesis and transgenesis to gene therapy. To fully explore the potential of two highly active DNA transposons, piggyBac and Tol2, as mammalian genetic tools, we have conducted a side-by-side comparison of the two transposon systems in the same setting to evaluate their advantages and disadvantages for use in gene therapy and gene discovery. We have observed that (1) the Tol2 transposase (but not piggyBac) is highly sensitive to molecular engineering; (2) the piggyBac donor with only the 40 bp 3'-and 67 bp 5'-terminal repeat domain is sufficient for effective transposition; and (3) a small amount of piggyBac transposases results in robust transposition suggesting the piggyBac transpospase is highly active. Performing genome-wide target profiling on data sets obtained by retrieving chromosomal targeting sequences from individual clones, we have identified several piggyBac and Tol2 hotspots and observed that (4) piggyBac and Tol2 display a clear difference in targeting preferences in the human genome. Finally, we have observed that (5) only sites with a particular sequence context can be targeted by either piggyBac or Tol2. The non-overlapping targeting preference of piggyBac and Tol2 makes them complementary research tools for manipulating mammalian genomes. PiggyBac is the most promising transposon-based vector system for achieving site-specific targeting of therapeutic genes due to the flexibility of its transposase for being molecularly engineered. Insights from this study will provide a basis for engineering piggyBac transposases to achieve site-specific therapeutic gene targeting.

  8. Studying Genes

    Science.gov (United States)

    ... NIGMS NIGMS Home > Science Education > Studying Genes Studying Genes Tagline (Optional) Middle/Main Content Area PDF Version (382 KB) Other Fact Sheets What are genes? Genes are segments of DNA that contain instructions ...

  9. [Regions of human genome containing analogs of oncogenes and retrovirus genes. I. A family of c-mos genes and unusual structure of ORA-gp5 locus].

    Science.gov (United States)

    Zabarovskiĭ, E R; Chumakov, I M; Prasolov, V S; Kiselev, L L

    1984-01-01

    The structural organization of a number of recombinant phages previously selected from the human gene library has been studied. On the basis of comparison of physical maps and hybridization to cloned probes it was deduced that different human loci with the homology to v-mos are represented in lambda recombinants. The physical map of the cloned region of the human genome designated as ORA-gp5 was constructed. The sequences of three different genetical elements v-mos-related oncogene, mammalian type C retrovirus and Alu type repeat are interspersed in this structure. The hypothesis concerning the probable origin of this locus has been proposed. The mosaical structure of ORA-gp5 could be the result of the integration of mammalian retrovirus in the vicinity to c-mos gene with subsequent recombination and transposition. The resulting potentially oncogenic structure was later inactivated by the integration of Alu-type repeats.

  10. Effects of Roux-en-Y gastric bypass and ileal transposition surgeries on glucose and lipid metabolism in skeletal muscle and liver.

    Science.gov (United States)

    Pezeshki, Adel; Chelikani, Prasanth K

    2014-01-01

    Roux-en Y gastric bypass (RYGB) and ileal transposition (IT) surgeries produce weight loss and improve diabetic control; however, the mechanisms of glycemic improvements are largely unknown. Because skeletal muscle and liver play a key role in glucose homeostasis, we compared the effects of RYGB and IT surgeries on key molecules of glucose and lipid metabolism in muscle and liver. Sprague-Dawley rats were subjected to RYGB, IT, or sham surgeries; sham-animals were ad-lib fed or pair-fed to RYGB rats (n = 7-9/group). At 8 weeks postoperatively, blood samples were collected for glucagon-like peptide-1 (GLP-1) and insulin analyses by ELISA. Leg muscle and liver tissues were analyzed for mRNA (RT-qPCR) and/or protein abundance (immuno blotting) of important molecules of glucose and lipid metabolism [glucose transporter-4 (GLUT-4), hexokinase, phosphofructokinase (PFK), adenosine monophosphate activated protein kinase-α (AMPKα), cytochrome C oxidase-IV (COX-IV), citrate synthase, carnitine palmitoyl transferase-1 (CPT-1), medium-chain acyl-CoA dehydrogenase (MCAD), peroxisome proliferator-activated receptor gamma co-activator 1 α (PGC-1 α), PGC-1-related coactivator (PRC), uncoupling protein-3 (UCP-3)]. Plasma GLP-1 concentrations were increased comparably with RYGB and IT. RYGB and IT increased muscle GLUT-4 protein content, muscle hexokinase mRNA, and liver PFK mRNA. IT increased muscle AMPKα and COX-IV protein content and liver citrate synthase activity. IT increased muscle CPT-1, MCAD and PRC mRNA, whereas RYGB increased UCP-3 mRNA in muscle and liver, and PGC-1 α mRNA in liver. The data suggest that RYGB and IT surgeries lead to enhanced GLP-1 secretion and produce similar stimulatory effects on important molecules of glucose metabolism but differential effects on key molecules of lipid oxidation in muscle and liver. © 2014 American Society for Bariatric Surgery Published by American Society for Metabolic and Bariatric Surgery All rights reserved.

  11. Gothic aortic arch and cardiac mechanics in young patients after arterial switch operation for d-transposition of the great arteries.

    Science.gov (United States)

    Di Salvo, Giovanni; Bulbul, Ziad; Pergola, Valeria; Issa, Ziad; Siblini, Ghassan; Muhanna, Nisreen; Galzerano, Domenico; Fadel, Bahaa; Al Joufan, Mansour; Al Fayyadh, Majid; Al Halees, Zohair

    2017-08-15

    In patients who have undergone arterial switch operation (ASO) for d-transposition of the great arteries a gothic aortic arch (GA) morphology has been found and it has been associated with abnormal aortic bio-elastic properties. GA is frequent in ASO patients and may have an impact on cardiac mechanics. Our study aims were to assess 1- the occurrence of GA in a large sample of patients after ASO; 2- the association between GA and aortic bio-elastic properties; and 3- the impact of GA on left ventricular (LV) function using speckle tracking echocardiography (STE). We studied one hundred and five asymptomatic patients, who have undergone first stage ASO for d-TGA, with normal left ventricular ejection fraction (LVEF ≥53%). Forty-six (44%) patients showed a GA (mean age 11.5±7.2years, 26 males) while fifty-nine (56%) patients (mean age 9.6±6.7years, 37 males) did not present GA. The two groups were comparable for age, sex, BSA, and office blood pressure values. In group GA aortic root was significantly dilated (27.4±7.5mm vs. 21.2±6.9mm, p<0.0001), aortic stiffness index (Group GA=1.8±1.2 vs. 1.4±0.7, p=0.025) was significantly increased, left atrial volume was larger (p=0.0145), global longitudinal strain (Group GA=-18.4±2.5% vs. -20.1±3.3%, p=0.012) and basal LV longitudinal strains (Group GA=-16.9±4.8% vs. -20.4±7.0%, p=0.013) were significantly reduced. After ASO the presence of a GA is associated with a significantly dilated aortic root, stiffer aortic wall, larger left atrial volume, and worse LV longitudinal systolic deformations, well known predictors of cardiovascular morbidity and mortality. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Science in bullet points: How to compile scientific results to underpin guidelines for CO2 storage for the German transposition of the European CCS Directive

    Science.gov (United States)

    Streibel, Martin

    2015-04-01

    In 2012 the German Parliament passed the transposition of the EC Directive 2009/31/EC the "Carbon Dioxide Storage Law" (KSpG). The law focuses on the demonstration of the CO2 storage technology and mainly regulates the storage part of the Carbon Capture and Storage (CCS) chain. As the law has a conceptual character, appendix 1 provides a description of criteria for the characterisation and assessment of a potential CO2 storage site starting with field data ending with requirements for dynamic modelling of the storage complex. Appendix 2 describes the expected monitoring system during all relevant phases of a life cycle of a CO2 storage site. The criteria given in the appendices are of general nature, which reflects on one hand that the CO2 storage technology is still being developed and on the other hand that site specific aspects needs to be considered. In 2004 the Federal Ministry of Education and Research of Germany launched the programme GEOTECHNOLOGIEN with one key aspect being the development of technologies for a sustainable storage of carbon dioxide in geological formations. Within this research field more than 30 projects in three phases have been funded until the end of 2014. In order to benefit from the gathered knowledge and use the experiences for the policy/law making process the umbrella project AUGE has been launched in October 2012 with a life time of three years. The aim of the project is to review and compile all results of projects funded during the three phases to underpin the appendices of the KSpG. In the first part of the paper the most important findings of the project with regard to the overall risk of a geological CO2 storage and the procedure of compiling the guidance document will be discussed. Milestones of this project were • the compilation of the results of national, European and international projects; • interviews with stakeholders; • a workshops to define state of the art for certain involved technologies and existing gaps

  13. Exercise Performance in Patients with D-Loop Transposition of the Great Arteries After Arterial Switch Operation: Long-Term Outcomes and Longitudinal Assessment.

    Science.gov (United States)

    Kuebler, Joseph D; Chen, Ming-Hui; Alexander, Mark E; Rhodes, Jonathan

    2016-02-01

    The first patients to undergo a successful arterial switch operation (ASO) for d-transposition of the great arteries (D-TGA) are now entering their fourth decade of life. Past studies of ASO survivors' exercise function have yielded conflicting results. We therefore undertook this study to describe the current function of ASO survivors, to identify factors related to inferior exercise performance and to determine whether their exercise function tends to deteriorate over time. A retrospective cohort study was designed examining all patients with D-TGA after the ASO who underwent comprehensive cardiopulmonary exercise testing (CPET). Patients with palliative surgery prior to ASO, ventricular hypoplasia or severe valvar dysfunction were excluded from the study. Data from CPETs in which the peak respiratory exchange ratio was <1.09 were also excluded. We identified 113 patients who met entry criteria and had 186 CPX at our institution between 1/2002 and 1/2013; 41 patients had at least 2 qualifying CPX. Mean age at the time of the initial test was 17 ± 1 year. Peak oxygen consumption (VO2) averaged 84 ± 2 % predicted. Peak VO2 was lower among patients with repaired ventricular septal defects (82 ± 4 vs. 86 ± 3 % predicted; p < 0.05) and among patients with ≥ moderate right-sided obstructive lesions (77 ± 5 vs. 87 ± 3 % predicted; p < 0.05). Surgery prior to 1991 was also associated with a lower peak VO2 (81 ± 3 vs. 87 ± 3 % predicted; p < 0.01). The mean % predicted peak heart rate was 92 ± 1 %, with no significant difference between any of the subgroups. Non-diagnostic exercise-induced STT changes developed in 10 patients (12 studies). In the subgroup with at least 2 exercise tests, the annual decline in % predicted peak VO2 was quite slow (-0.3 % points/year; p < 0.01 vs. expected normal age-related decline). The exercise capacity of ASO survivors is well preserved and is only mildly reduced compared to normal subjects. Moreover, there is only a slight

  14. Gene Therapy

    Science.gov (United States)

    Gene therapy Overview Gene therapy involves altering the genes inside your body's cells in an effort to treat or stop disease. Genes contain your ... that don't work properly can cause disease. Gene therapy replaces a faulty gene or adds a new ...

  15. Evolution of the DAZ gene and the AZFc region on primate Y chromosomes

    Directory of Open Access Journals (Sweden)

    Yu Jane-Fang

    2008-03-01

    Full Text Available Abstract Background The Azoospermia Factor c (AZFc region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men. Most of the AZFc amplicons have high sequence similarity with autosomal segments, indicating recent duplication and transposition to the Y chromosome. The Deleted in Azoospermia (DAZ gene within the red-amplicon arose from an ancestral autosomal DAZ-like (DAZL gene. It varies significantly between different men regarding to its copy number and the numbers of RNA recognition motif and DAZ repeat it encodes. We used Southern analyses to study the evolution of DAZ and AZFc amplicons on the Y chromosomes of primates. Results The Old World monkey rhesus macaque has only one DAZ gene. In contrast, the great apes have multiple copies of DAZ, ranging from 2 copies in bonobos and gorillas to at least 6 copies in orangutans, and these DAZ genes have polymorphic structures similar to those of their human counterparts. Sequences homologous to the various AZFc amplicons are present on the Y chromosomes of some but not all primates, indicating that they arrived on the Y chromosome at different times during primate evolution. Conclusion The duplication and transposition of AZFc amplicons to the human Y chromosome occurred in three waves, i.e., after the branching of the New World monkey, the gorilla, and the chimpanzee/bonobo lineages, respectively. The red-amplicon, one of the first to arrive on the Y chromosome, amplified by inverted duplication followed by direct duplication after the separation of the Old World monkey and the great ape lineages. Subsequent duplication/deletion in the various lineages gave rise to a spectrum of DAZ gene structure and copy number found in today's great apes.

  16. The SLEEPER genes: a transposase-derived angiosperm-specific gene family

    Directory of Open Access Journals (Sweden)

    Knip Marijn

    2012-10-01

    Full Text Available Abstract Background DAYSLEEPER encodes a domesticated transposase from the hAT-superfamily, which is essential for development in Arabidopsis thaliana. Little is known about the presence of DAYSLEEPER orthologs in other species, or how and when it was domesticated. We studied the presence of DAYSLEEPER orthologs in plants and propose a model for the domestication of the ancestral DAYSLEEPER gene in angiosperms. Results Using specific BLAST searches in genomic and EST libraries, we found that DAYSLEEPER-like genes (hereafter called SLEEPER genes are unique to angiosperms. Basal angiosperms as well as grasses (Poaceae and dicotyledonous plants possess such putative orthologous genes, but SLEEPER-family genes were not found in gymnosperms, mosses and algae. Most species contain more than one SLEEPER gene. All SLEEPERs contain a C2H2 type BED-zinc finger domain and a hATC dimerization domain. We designated 3 motifs, partly overlapping the BED-zinc finger and dimerization domain, which are hallmark features in the SLEEPER family. Although SLEEPER genes are structurally conserved between species, constructs with SLEEPER genes from grapevine and rice did not complement the daysleeper phenotype in Arabidopsis, when expressed under control of the DAYSLEEPER promoter. However these constructs did cause a dominant phenotype when expressed in Arabidopsis. Rice plant lines with an insertion in the RICESLEEPER1 or 2 locus displayed phenotypic abnormalities, indicating that these genes are functional and important for normal development in rice. We suggest a model in which we hypothesize that an ancestral hAT transposase was retrocopied and stably integrated in the genome during early angiosperm evolution. Evidence is also presented for more recent retroposition events of SLEEPER genes, such as an event in the rice genome, which gave rise to the RICESLEEPER1 and 2 genes. Conclusions We propose the ancestral SLEEPER gene was formed after a process of retro-transposition

  17. gene structure, gene expression

    Indian Academy of Sciences (India)

    and seedling leaves were sampled at 6 h after the treatment. For cold stress, the seedlings were transferred to 4◦C growth chamber for 30 min. Control seedlings were exposed to none of these treatments. To examine the expression patterns of these predicted genes in Poplar and to further confirm their stress responsive-.

  18. Four-Dimensional Visualization of Thoracic Blood Flow by Magnetic Resonance Imaging in a Patient Following Correction of Transposition of the Great Arteries (d-TGA) and Uncorrected Aortic Coarctation

    Energy Technology Data Exchange (ETDEWEB)

    Ley-Zaporozhan, J.; Rengier, F.; Tengg-Kobligk, H. von (German Cancer Research Center (DKFZ) Heidelberg, Radiology, Heidelberg (Germany)); Ley, S.; Unterhinninghofen, R. (Univ. of Karlsruhe, Inst. of Computer Science and Engineering, Karlsruhe (Germany)); Markl, M. (Dept. of Diagnostic Radiology, Medical Physics, Univ. Hospital Freiburg, Freiburg (Germany)); Eichhorn, J. (Univ. Hospital, Pediatric Cardiology, Heidelberg (Germany))

    2009-10-15

    Recent advances in flow-sensitive magnetic resonance imaging (MRI) and data analysis allow for comprehensive noninvasive three-dimensional (3D) visualization of complex blood flow. Electrocardiogram (ECG)-gated three-directional (3dir) flow measurements were employed to assess and visualize time-resolved 3D blood flow in the pulmonary arteries (PA) and thoracic aorta. We present findings in a juvenile patient with surgically corrected transposition of the great arteries (d-TGA) and aortic coarctation. For the first time, the complex flow patterns in the PA following d-TGA were visualized. Morphologically, a slight asymmetry of the PA was found, with considerable impact on vascular hemodynamics, resulting in diastolic retrograde flow in the larger vessel and diastolic filling of the smaller PA. Additionally, increased flow to the supraaortic vessels was found due to aortic coarctation.

  19. Reprogramming of Human Fibroblasts to Induced Pluripotent Stem Cells with Sleeping Beauty Transposon-Based Stable Gene Delivery.

    Science.gov (United States)

    Sebe, Attila; Ivics, Zoltán

    2016-01-01

    Human induced pluripotent stem (iPS) cells are a source of patient-specific pluripotent stem cells and resemble human embryonic stem (ES) cells in gene expression profiles, morphology, pluripotency, and in vitro differentiation potential. iPS cells are applied in disease modeling, drug screenings, toxicology screenings, and autologous cell therapy. In this protocol, we describe how to derive human iPS cells from fibroblasts by Sleeping Beauty (SB) transposon-mediated gene transfer of reprogramming factors. First, the components of the non-viral Sleeping Beauty transposon system, namely a transposon vector encoding reprogramming transcription factors and a helper plasmid expressing the SB transposase, are electroporated into human fibroblasts. The reprogramming cassette undergoes transposition from the transfected plasmids into the fibroblast genome, thereby resulting in stable delivery of the reprogramming factors. Reprogramming by using this protocol takes ~4 weeks, after which the iPS cells are isolated and clonally propagated.

  20. Mendelian and non-Mendelian regulation of gene expression in maize.

    Directory of Open Access Journals (Sweden)

    Lin Li

    Full Text Available Transcriptome variation plays an important role in affecting the phenotype of an organism. However, an understanding of the underlying mechanisms regulating transcriptome variation in segregating populations is still largely unknown. We sought to assess and map variation in transcript abundance in maize shoot apices in the intermated B73 × Mo17 recombinant inbred line population. RNA-based sequencing (RNA-seq allowed for the detection and quantification of the transcript abundance derived from 28,603 genes. For a majority of these genes, the population mean, coefficient of variation, and segregation patterns could be predicted by the parental expression levels. Expression quantitative trait loci (eQTL mapping identified 30,774 eQTL including 96 trans-eQTL "hotspots," each of which regulates the expression of a large number of genes. Interestingly, genes regulated by a trans-eQTL hotspot tend to be enriched for a specific function or act in the same genetic pathway. Also, genomic structural variation appeared to contribute to cis-regulation of gene expression. Besides genes showing Mendelian inheritance in the RIL population, we also found genes whose expression level and variation in the progeny could not be predicted based on parental difference, indicating that non-Mendelian factors also contribute to expression variation. Specifically, we found 145 genes that show patterns of expression reminiscent of paramutation such that all the progeny had expression levels similar to one of the two parents. Furthermore, we identified another 210 genes that exhibited unexpected patterns of transcript presence/absence. Many of these genes are likely to be gene fragments resulting from transposition, and the presence/absence of their transcripts could influence expression levels of their ancestral syntenic genes. Overall, our results contribute to the identification of novel expression patterns and broaden the understanding of transcriptional variation in

  1. Chromosomal evolution of the PKD1 gene family in primates

    Directory of Open Access Journals (Sweden)

    Krawczak Michael

    2008-09-01

    transposition of the PKD1 gene and further amplification and evolution of the PKD1 pseudogenes may have arisen in a common ancestor of Homo, Pan and Gorilla ~8 MYA. Reticulate evolutionary processes such as gene conversion and non-allelic homologous recombination (NAHR may have resulted in concerted evolution of PKD1 family members in human and chimpanzee and, thus, simulate an independent evolution of the PKD1 pseudogenes from their master PKD1 genes in human and chimpanzee.

  2. Gene expression

    International Nuclear Information System (INIS)

    Hildebrand, C.E.; Crawford, B.D.; Walters, R.A.; Enger, M.D.

    1983-01-01

    We prepared probes for isolating functional pieces of the metallothionein locus. The probes enabled a variety of experiments, eventually revealing two mechanisms for metallothionein gene expression, the order of the DNA coding units at the locus, and the location of the gene site in its chromosome. Once the switch regulating metallothionein synthesis was located, it could be joined by recombinant DNA methods to other, unrelated genes, then reintroduced into cells by gene-transfer techniques. The expression of these recombinant genes could then be induced by exposing the cells to Zn 2+ or Cd 2+ . We would thus take advantage of the clearly defined switching properties of the metallothionein gene to manipulate the expression of other, perhaps normally constitutive, genes. Already, despite an incomplete understanding of how the regulatory switch of the metallothionein locus operates, such experiments have been performed successfully

  3. Recidiva da hérnia incisional após o tratamento pela transposição peritonio-aponeurótica longitudinal bilateral Recidivation of bilateral longitudinal peritoneum-aponeurotic transposition on incisional hernioplasty

    Directory of Open Access Journals (Sweden)

    Alcino Lázaro-da-Silva

    2004-06-01

    Full Text Available OBJETIVO: Conhecer a incidência de recidiva de hernioplastia incisional pela transposição peritônio-aponeurótica longitudinal bilateral. PROCEDIMENTOS: Foi feito um levantamento dos pacientes que foram operados de hérnia incisional pela técnica de transposição peritônio-aponeurótica longitudinal bilateral. Cento e trinta e dois pacientes (80 do Hospital Universitário de Belo Horizonte, MG e 52 da clínica particular foram acompanhados por período médio de 4 anos e 10 meses. Muitos dos pacientes eram obesos, porém todos tinham hérnias longitudinais de médio a grande volume. Três aspectos precisam ser ressaltados: o método para se alcançar a parede abdominal interna, a incisão aponeurótica posterior e os fios utilizados. RESULTADOS: Recidiva em 7,69% dos pacientes do grupo operado por um cirurgião (clínica particular e em 18,75% dos pacientes do grupo operado por cirurgiões em treinamento (Hospital Universitário.OBJECTIVES: To carry out a study of the recidivation rate of incisional hernioplasty by means of bilateral longitudinal peritoneum-aponeurotic transposition. METHOD: A retrospective study was carried out in patients from the University Hospital in Belo Horizonte, MG, Brazil and from a surgeon's private clinic who had undergone incisional hernioplasty by means of bilateral peritoneum-aponeurotic transposition. A total of 132 patients (80 from University Hospital and 52 from private clinic were monitored over an average period of 4 years and 10 months. Most the patients were obese and all of them had disloged longitudinal hernias of medium and large volume. Three aspects must be stressed: the procedure for reaching the internal abdominal wall, the posterior aponeurotic incision and the threads used. RESULTS: Recidivation occurred in 7.69% of the patients belonging to a group operated on by one surgeon and in 18.75% of patients operated on by a trainee surgeon.

  4. Evolution of MicroRNA Genes in Oryza sativa and Arabidopsis thaliana: An Update of the Inverted Duplication Model

    Science.gov (United States)

    Zhang, Yun; Jiang, Wen-kai; Gao, Li-zhi

    2011-01-01

    The origin and evolution of microRNA (miRNA) genes, which are of significance in tuning and buffering gene expressions in a number of critical cellular processes, have long attracted evolutionary biologists. However, genome-wide perspectives on their origins, potential mechanisms of their de novo generation and subsequent evolution remain largely unsolved in flowering plants. Here, genome-wide analyses of Oryza sativa and Arabidopsis thaliana revealed apparently divergent patterns of miRNA gene origins. A large proportion of miRNA genes in O. sativa were TE-related and MITE-related miRNAs in particular, whereas the fraction of these miRNA genes much decreased in A. thaliana. Our results show that the majority of TE-related and pseudogene-related miRNA genes have originated through inverted duplication instead of segmental or tandem duplication events. Based on the presented findings, we hypothesize and illustrate the four likely molecular mechanisms to de novo generate novel miRNA genes from TEs and pseudogenes. Our rice genome analysis demonstrates that non-MITEs and MITEs mediated inverted duplications have played different roles in de novo generating miRNA genes. It is confirmed that the previously proposed inverted duplication model may give explanations for non-MITEs mediated duplication events. However, many other miRNA genes, known from the earlier proposed model, were rather arisen from MITE transpositions into target genes to yield binding sites. We further investigated evolutionary processes spawned from de novo generated to maturely-formed miRNA genes and their regulatory systems. We found that miRNAs increase the tunability of some gene regulatory systems with low gene copy numbers. The results also suggest that gene balance effects may have largely contributed to the evolution of miRNA regulatory systems. PMID:22194805

  5. Dispersion Profiles and Gene Associations of Repetitive DNAs in the Euchromatin of the Beetle Tribolium castaneum

    Directory of Open Access Journals (Sweden)

    Josip Brajković

    2018-03-01

    Full Text Available Satellite DNAs are tandemly repeated sequences clustered within heterochromatin. However, in some cases, such as the major TCAST1 satellite DNA from the beetle Tribolium castaneum, they are found partially dispersed within euchromatin. Such organization together with transcriptional activity enables TCAST1 to modulate the activity of neighboring genes. In order to explore if other T. castaneum repetitive families have features that could provide them with a possible gene-modulatory role, we compare here the structure, organization, dispersion profiles, and transcription activity of 10 distinct TCAST repetitive families including TCAST1. The genome organization of TCAST families exhibit either satellite-like or transposon-like characteristics. In addition to heterochromatin localization, bioinformatic searches of the assembled genome have revealed dispersion of all families within euchromatin, preferentially in the form of single repeats. Dispersed TCAST repeats are mutually correlated in distribution and are grouped in distinct regions of euchromatin. The repeats are associated with genes, are enriched in introns relative to intergenic regions, and very rarely overlap exons. In spite of the different mechanisms of repeat proliferation, such as transposition and homologous recombination, all TCAST families share a similar frequency of spreading as well as dispersion and gene association profiles. Additionally, TCAST families are transcribed and their transcription is significantly activated by heat stress. A possibility that such common features of TCAST families might be related to their potential gene-modulatory role is discussed.

  6. Frequent gain and loss of introns in fungal cytochrome b genes.

    Directory of Open Access Journals (Sweden)

    Liang-Fen Yin

    Full Text Available In this study, all available cytochrome b (Cyt b genes from the GOBASE database were compiled and the evolutionary dynamics of the Cyt b gene introns was assessed. Cyt b gene introns were frequently present in the fungal kingdom and some lower plants, but generally absent or rare in Chromista, Protozoa, and Animalia. Fungal Cyt b introns were found at 35 positions in Cyt b genes and the number of introns varied at individual positions from a single representative to 32 different introns at position 131, showing a wide and patchy distribution. Many homologous introns were present at the same position in distantly related species but absent in closely related species, suggesting that introns of the Cyt b genes were frequently lost. On the other hand, highly similar intron sequences were observed in some distantly related species rather than in closely related species, suggesting that these introns were gained independently, likely through lateral transfers. The intron loss-and-gain events could be mediated by transpositions that might have occurred between nuclear and mitochondria. Southern hybridization analysis confirmed that some introns contained repetitive sequences and might be transposable elements. An intron gain in Botryotinia fuckeliana prevented the development of QoI fungicide resistance, suggesting that intron loss-and-gain events were not necessarily beneficial to their host organisms.

  7. Frequent Gain and Loss of Introns in Fungal Cytochrome b Genes

    Science.gov (United States)

    Yin, Liang-Fen; Hu, Meng-Jun; Wang, Fei; Kuang, Hanhui; Zhang, Yu; Schnabel, Guido; Li, Guo-Qing; Luo, Chao-Xi

    2012-01-01

    In this study, all available cytochrome b (Cyt b) genes from the GOBASE database were compiled and the evolutionary dynamics of the Cyt b gene introns was assessed. Cyt b gene introns were frequently present in the fungal kingdom and some lower plants, but generally absent or rare in Chromista, Protozoa, and Animalia. Fungal Cyt b introns were found at 35 positions in Cyt b genes and the number of introns varied at individual positions from a single representative to 32 different introns at position 131, showing a wide and patchy distribution. Many homologous introns were present at the same position in distantly related species but absent in closely related species, suggesting that introns of the Cyt b genes were frequently lost. On the other hand, highly similar intron sequences were observed in some distantly related species rather than in closely related species, suggesting that these introns were gained independently, likely through lateral transfers. The intron loss-and-gain events could be mediated by transpositions that might have occurred between nuclear and mitochondria. Southern hybridization analysis confirmed that some introns contained repetitive sequences and might be transposable elements. An intron gain in Botryotinia fuckeliana prevented the development of QoI fungicide resistance, suggesting that intron loss-and-gain events were not necessarily beneficial to their host organisms. PMID:23145081

  8. Trichoderma genes

    Science.gov (United States)

    Foreman, Pamela [Los Altos, CA; Goedegebuur, Frits [Vlaardingen, NL; Van Solingen, Pieter [Naaldwijk, NL; Ward, Michael [San Francisco, CA

    2012-06-19

    Described herein are novel gene sequences isolated from Trichoderma reesei. Two genes encoding proteins comprising a cellulose binding domain, one encoding an arabionfuranosidase and one encoding an acetylxylanesterase are described. The sequences, CIP1 and CIP2, contain a cellulose binding domain. These proteins are especially useful in the textile and detergent industry and in pulp and paper industry.

  9. Status of clean gene (selection marker-free) technology

    African Journals Online (AJOL)

    SERVER

    2007-12-28

    Dec 28, 2007 ... (MAT) with positive selection. Ebinuma et al. 1997. Does not require sexual crossing. (MAT vector pNI2106 with Ac/Ds system). A. Rice. I-RS/dAc-IRS- Ds-. aphIV- Ds. RS / Ds system. Excision frequency 0-70%. Frequency of transposition event was 44% and 38% in two cases. Transposition was 20% (10 of ...

  10. Suppression of different classes of somatic mutations in Arabidopsis by vir gene-expressing Agrobacterium strains.

    Science.gov (United States)

    Shah, Jasmine M; Ramakrishnan, Anantha Maharasi; Singh, Amit Kumar; Ramachandran, Subalakshmi; Unniyampurath, Unnikrishnan; Jayshankar, Ajitha; Balasundaram, Nithya; Dhanapal, Shanmuhapreya; Hyde, Geoff; Baskar, Ramamurthy

    2015-08-26

    Agrobacterium infection, which is widely used to generate transgenic plants, is often accompanied by T-DNA-linked mutations and transpositions in flowering plants. It is not known if Agrobacterium infection also affects the rates of point mutations, somatic homologous recombinations (SHR) and frame-shift mutations (FSM). We examined the effects of Agrobacterium infection on five types of somatic mutations using a set of mutation detector lines of Arabidopsis thaliana. To verify the effect of secreted factors, we exposed the plants to different Agrobacterium strains, including wild type (Ach5), its derivatives lacking vir genes, oncogenes or T-DNA, and the heat-killed form for 48 h post-infection; also, for a smaller set of strains, we examined the rates of three types of mutations at multiple time-points. The mutation detector lines carried a non-functional β-glucuronidase gene (GUS) and a reversion of mutated GUS to its functional form resulted in blue spots. Based on the number of blue spots visible in plants grown for a further two weeks, we estimated the mutation frequencies. For plants co-cultivated for 48 h with Agrobacterium, if the strain contained vir genes, then the rates of transversions, SHRs and FSMs (measured 2 weeks later) were lower than those of uninfected controls. In contrast, co-cultivation for 48 h with any of the Agrobacterium strains raised the transposition rates above control levels. The multiple time-point study showed that in seedlings co-cultivated with wild type Ach5, the reduced rates of transversions and SHRs after 48 h co-cultivation represent an apparent suppression of an earlier short-lived increase in mutation rates (peaking for plants co-cultivated for 3 h). An increase after 3 h co-cultivation was also seen for rates of transversions (but not SHR) in seedlings exposed to the strain lacking vir genes, oncogenes and T-DNA. However, the mutation rates in plants co-cultivated for longer times with this strain subsequently

  11. A tomato mutant that shows stunting, wilting, progressive necrosis and constitutive expression of defence genes contains a recombinant Hcr9 gene encoding an autoactive protein.

    Science.gov (United States)

    Barker, Claire L; Talbot, Stephen J; Jones, Jonathan D G; Jones, David A

    2006-05-01

    The tomato Cf-9 gene confers resistance to races of the leaf mould fungus Cladosporium fulvum that carry the Avr9 avirulence gene. Cf-9 resides at a locus containing five paralogous genes and was isolated by transposon tagging using a modified maize Dissociation (Ds) element. The tagging experiment generated an allelic series of Ds-induced mutations of Cf-9, most of which were wild type in appearance. However, one mutant, designated M205, showed stunted growth, wilting, progressive leaf chlorosis and necrosis and constitutive expression of defence genes. The phenotype of M205 was caused by a semidominant, Avr9-independent mutation that co-segregated with a Ds element insertion at the Cf-9 locus. Molecular genetic analysis indicated that the Cf-9 locus of M205 had undergone recombination, generating a chimeric gene, designated Hcr9-M205, that comprised an in-frame fusion between the 5' coding region of the Cf-9 paralogue, Hcr9-9A, and the 3' coding region of Cf-9. The presence of a possible excision footprint adjacent to the junction between Hcr9-9A and Cf-9, and a Ds insertion at the homologous position in the downstream paralogue Hcr9-9D, is consistent with recombination between Hcr9-9A and Cf-9 promoted by transposition of Ds from Cf-9 into Hcr9-9D. Agrobacterium tumefaciens-mediated transient expression of Hcr9-M205 in Nicotiana tabacum caused chlorosis and the accumulation of defence gene transcripts, indicating that the protein encoded by this novel Hcr9 gene is autoactive.

  12. Immunoglobulin genes

    National Research Council Canada - National Science Library

    Honjo, T; Alt, F. W; Rabbitts, T. H

    1989-01-01

    ... Cataloguing in Publication Data Immunoglobulin genes 1. Vertebrates. Immunoglobulins 1. Honjo, T. II. Alt, F.W. III. Rabbitts, T.H. 612'. 118223 ISBN 0-12-354865-9 This book is printed on acid-free paper ( T...

  13. Ageing genes

    DEFF Research Database (Denmark)

    Rattan, Suresh

    2018-01-01

    The idea of gerontogenes is in line with the evolutionary explanation of ageing as being an emergent phenomenon as a result of the imperfect maintenance and repair systems. Although evolutionary processes did not select for any specific ageing genes that restrict and determine the lifespan...... of an individual, the term ‘gerontogenes’ primarily refers to any genes that may seem to influence ageing and longevity, without being specifically selected for that role. Such genes can also be called ‘virtual gerontogenes’ by virtue of their indirect influence on the rate and process of ageing. More than 1000...... virtual gerontogenes have been associated with ageing and longevity in model organisms and humans. The ‘real’ genes, which do influence the essential lifespan of a species, and have been selected for in accordance with the evolutionary life history of the species, are known as the longevity assurance...

  14. Multivariate and spatial statistical analysis of Callovo-Oxfordian physical properties from lab and borehole logs data: towards a characterization of lateral and vertical spatial trends in the Meuse/Haute-Marne transposition zone

    International Nuclear Information System (INIS)

    Garcia, M.H.; Rabaute, A.; Yven, B.; Guillemot, D.

    2010-01-01

    Document available in extended abstract form only. The geological exploration of the Meuse/Haute-Marne area began in 1994. Several boreholes were drilled, and the Callovo-Oxfordian argillite, thought to become a potential storage formation, were cored and logged. 2D and 3D seismic surveys were completed, as well as geological field observations, and an underground research laboratory was created. A 250 km 2 -wide Transposition Zone was delimited, which was subject to further investigations in 2007 and 2008, including another series of coring and logging in four additional boreholes, and a tighter 2D seismic survey. The main objective of this study was to improve the knowledge of the spatial variability of geological and physical properties of the Callovo-Oxfordian formation. The paper focuses on the three following aspects of the study to present and discuss the methods that have been used and the results that have been obtained: - Use of well-log data to identify equivalent homogeneous log-units on the boreholes. - Relating log attributes to physical properties of argillites measured on cores in laboratory. - Study of lateral and vertical spatial trends of selected physical properties across the Transposition Zone (TZ). To identify equivalent homogeneous log-units, a combination of Principal Component Analysis (PCA) and Fuzzy Cluster Analysis (FCA) was used. PCA was classically performed to reduce the number of variables to retain principal components gathering most of the original dataset variance. PCA was also used to identify isolated groups of correlated variables that could be associated to different properties of the formation. Then, FCA was applied to identify homogeneous log-units on the eight boreholes across the TZ. Well-logs data being much more numerous and better distributed along boreholes than lab data measured on rock samples, relations and correlations were sought between the two types of data to identify log attributes that were likely to provide

  15. Transposición de los cuerpos cavernosos para el tratamiento de la incontinencia urinaria posadenomectomía The cavernous bodies' transposition for treatment of post-adenomectomy urinary incontinence

    Directory of Open Access Journals (Sweden)

    Lourdes Santana Sarrhy

    2010-09-01

    Full Text Available Se documenta el caso de un paciente de 78 años de edad con antecedentes de haber sido operado de hiperplasia prostática benigna a través de una adenomectomía retropúbica y, después de retirada la sonda uretral, comenzó a tener salida involuntaria de orina en las posiciones de pie y sentado. Después de 6 meses los síntomas se mantuvieron e intensificaron, y múltiples estudios confirmaron una lesión iatrogénica del esfínter externo. Se realizó una transposición perineal de los cuerpos cavernosos y se creó una uretra funcional de aproximadamente 2,5 cm. Se observó mejoría clínica inmediata que inicialmente solucionó por completo la incontinencia urinaria posquirúrgica. A los 4 años de la operación, el paciente presenta solo escaso goteo posmiccional y ligera salida de orina con los grandes esfuerzos, que mejora con tratamiento médico.This is the case of a male patient aged 78 with a history of benign prostatic hyperplasia surgery through a retropubic adenomectomy and after the urethral stent withdrawal he had an involuntary urine output in standing and sitting down positions. After 6 months the symptoms remained and intensified and multiple studies confirmed an iatrogenic lesion of external sphincter. A perineal transposition of cavernous bodies and a approximately 2,5 cm functional urethra was created. There was an immediate clinical improvement that initially solved completely the postsurgical urinary incontinence. At four year after surgery, patient presents only a low postmicturition dripping and slight urine output with great efforts improving the medical treatment.

  16. Evolution of class 1 integrons: Mobilization and dispersal via food-borne bacteria.

    Directory of Open Access Journals (Sweden)

    Timothy M Ghaly

    Full Text Available Class 1 integrons have played a major role in the global dissemination of antibiotic resistance. Reconstructing the history of class 1 integrons might help us control further spread of antibiotic resistance by understanding how human activities influence microbial evolution. Here we describe a class 1 integron that represents an intermediate stage in the evolutionary history of clinical integrons. It was embedded in a series of nested transposons, carried on an IncP plasmid resident in Enterobacter, isolated from the surface of baby spinach leaves. Based on the structure of this integron, we present a modified hypothesis for integron assembly, where the ancestral clinical class 1 integron was captured from a betaproteobacterial chromosome to form a Tn402-like transposon. This transposon then inserted into a plasmid-borne Tn21-like ancestor while in an environmental setting, possibly a bacterium resident in the phyllosphere. We suggest that the qacE gene cassette, conferring resistance to biocides, together with the mercury resistance operon carried by Tn21, provided a selective advantage when this bacterium made its way into the human commensal flora via food. The integron characterized here was located in Tn6007, which along with Tn6008, forms part of the larger Tn6006 transposon, itself inserted into another transposable element to form the Tn21-like transposon, Tn6005. This element has previously been described from the human microbiota, but with a promoter mutation that upregulates integron cassette expression. This element we describe here is from an environmental bacterium, and supports the hypothesis that the ancestral class 1 integron migrated into anthropogenic settings via foodstuffs. Selection pressures brought about by early antimicrobial agents, including mercury, arsenic and disinfectants, promoted its initial fixation, the acquisition of promoter mutations, and subsequent dissemination into various species and pathogens.

  17. Sex Chromosome-wide Transcriptional Suppression and Compensatory Cis-Regulatory Evolution Mediate Gene Expression in the Drosophila Male Germline.

    Directory of Open Access Journals (Sweden)

    Emily L Landeen

    2016-07-01

    Full Text Available The evolution of heteromorphic sex chromosomes has repeatedly resulted in the evolution of sex chromosome-specific forms of regulation, including sex chromosome dosage compensation in the soma and meiotic sex chromosome inactivation in the germline. In the male germline of Drosophila melanogaster, a novel but poorly understood form of sex chromosome-specific transcriptional regulation occurs that is distinct from canonical sex chromosome dosage compensation or meiotic inactivation. Previous work shows that expression of reporter genes driven by testis-specific promoters is considerably lower-approximately 3-fold or more-for transgenes inserted into X chromosome versus autosome locations. Here we characterize this transcriptional suppression of X-linked genes in the male germline and its evolutionary consequences. Using transgenes and transpositions, we show that most endogenous X-linked genes, not just testis-specific ones, are transcriptionally suppressed several-fold specifically in the Drosophila male germline. In wild-type testes, this sex chromosome-wide transcriptional suppression is generally undetectable, being effectively compensated by the gene-by-gene evolutionary recruitment of strong promoters on the X chromosome. We identify and experimentally validate a promoter element sequence motif that is enriched upstream of the transcription start sites of hundreds of testis-expressed genes; evolutionarily conserved across species; associated with strong gene expression levels in testes; and overrepresented on the X chromosome. These findings show that the expression of X-linked genes in the Drosophila testes reflects a balance between chromosome-wide epigenetic transcriptional suppression and long-term compensatory adaptation by sex-linked genes. Our results have broad implications for the evolution of gene expression in the Drosophila male germline and for genome evolution.

  18. The genomic landscape of meiotic crossovers and gene conversions in Arabidopsis thaliana

    Science.gov (United States)

    Wijnker, Erik; Velikkakam James, Geo; Ding, Jia; Becker, Frank; Klasen, Jonas R; Rawat, Vimal; Rowan, Beth A; de Jong, Daniël F; de Snoo, C Bastiaan; Zapata, Luis; Huettel, Bruno; de Jong, Hans; Ossowski, Stephan; Weigel, Detlef; Koornneef, Maarten; Keurentjes, Joost JB; Schneeberger, Korbinian

    2013-01-01

    Knowledge of the exact distribution of meiotic crossovers (COs) and gene conversions (GCs) is essential for understanding many aspects of population genetics and evolution, from haplotype structure and long-distance genetic linkage to the generation of new allelic variants of genes. To this end, we resequenced the four products of 13 meiotic tetrads along with 10 doubled haploids derived from Arabidopsis thaliana hybrids. GC detection through short reads has previously been confounded by genomic rearrangements. Rigid filtering for misaligned reads allowed GC identification at high accuracy and revealed an ∼80-kb transposition, which undergoes copy-number changes mediated by meiotic recombination. Non-crossover associated GCs were extremely rare most likely due to their short average length of ∼25–50 bp, which is significantly shorter than the length of CO-associated GCs. Overall, recombination preferentially targeted non-methylated nucleosome-free regions at gene promoters, which showed significant enrichment of two sequence motifs. DOI: http://dx.doi.org/10.7554/eLife.01426.001 PMID:24347547

  19. Genome-wide identification of genes regulated in trans by transposable element small interfering RNAs

    Science.gov (United States)

    McCue, Andrea D; Nuthikattu, Saivageethi; Slotkin, R Keith

    2013-01-01

    Transposable elements (TEs) are known to influence the regulation of neighboring genes through a variety of mechanisms. Additionally, it was recently discovered that TEs can regulate non-neighboring genes through the trans-acting nature of small interfering RNAs (siRNAs). When the epigenetic repression of TEs is lost, TEs become transcriptionally active, and the host cell acts to repress mutagenic transposition by degrading TE mRNAs into siRNAs. In this study, we have performed a genome-wide analysis in the model plant Arabidopsis thaliana and found that TE siRNA-based regulation of genic mRNAs is more pervasive than the two formerly characterized proof-of-principle examples. We identified 27 candidate genic mRNAs that do not contain a TE fragment but are regulated through partial complementarity by the accumulation of TE siRNAs and are therefore influenced by TE epigenetic activation. We have experimentally confirmed several gene targets and demonstrated that they respond to the accumulation of specific 21 nucleotide TE siRNAs that are incorporated into the Arabidopsis Argonaute1 protein. Additionally, we found that one TE siRNA specifically targets and inhibits the formation of a host protein that acts to repress TE activity, suggesting that TEs harbor and potentially evolutionarily select short sequences to act as suppressors of host TE repression. PMID:23863322

  20. Gene Locater

    DEFF Research Database (Denmark)

    Anwar, Muhammad Zohaib; Sehar, Anoosha; Rehman, Inayat-Ur

    2012-01-01

    software's for calculating recombination frequency is mostly limited to the range and flexibility of this type of analysis. GENE LOCATER is a fully customizable program for calculating recombination frequency, written in JAVA. Through an easy-to-use interface, GENE LOCATOR allows users a high degree...... of flexibility in calculating genetic linkage and displaying linkage group. Among other features, this software enables user to identify linkage groups with output visualized graphically. The program calculates interference and coefficient of coincidence with elevated accuracy in sample datasets. AVAILABILITY......: The database is available for free at http://www.moperandib.com....

  1. Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

    Science.gov (United States)

    Bi, Weimin; Yan, Jiong; Stankiewicz, Paweł; Park, Sung-Sup; Walz, Katherina; Boerkoel, Cornelius F.; Potocki, Lorraine; Shaffer, Lisa G.; Devriendt, Koen; Nowaczyk, Małgorzata J.M.; Inoue, Ken; Lupski, James R.

    2002-01-01

    Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb interstitial genomic deletion within chromosome 17p11.2. To investigate the molecular bases of the SMS phenotype, we constructed BAC/PAC contigs covering the SMS common deletion interval and its syntenic region on mouse chromosome 11. Comparative genome analysis reveals the absence of all three ∼200-kb SMS-REP low-copy repeats in the mouse and indicates that the evolution of SMS-REPs was accompanied by transposition of adjacent genes. Physical and genetic map comparisons in humans reveal reduced recombination in both sexes. Moreover, by examining the deleted regions in SMS patients with unusual-sized deletions, we refined the minimal Smith-Magenis critical region (SMCR) to an ∼1.1-Mb genomic interval that is syntenic to an ∼1.0-Mb region in the mouse. Genes within the SMCR and its mouse syntenic region were identified by homology searches and by gene prediction programs, and their gene structures and expression profiles were characterized. In addition to 12 genes previously mapped, we identified 8 new genes and 10 predicted genes in the SMCR. In the mouse syntenic region of the human SMCR, 16 genes and 6 predicted genes were identified. The SMCR is highly conserved between humans and mice, including 19 genes with the same gene order and orientation. Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model. PMID:11997338

  2. Technical response by the ANDRA to the IEER report. Comment on the final report of the critical examination of the ANDRA's program on researches performed in the Bure underground laboratory and on the transposition area to define a ZIRA, prepared by the IEER for the CLIS (March-April 2011)

    International Nuclear Information System (INIS)

    2011-01-01

    This report is an answer to the conclusions and recommendations of a report made by the IEER about researches performed in the field of deep geological storage of nuclear wastes. It also proposes an analysis of the whole content of this report. The IEER report addressed seismic data and seismic characterization of the transposition area, the characteristics and properties of host geological formations, rock mechanics, thermal aspects, and the comparison with other underground research programs aimed at the selection of a ZIRA (area of interest for deeper research for a future storage)

  3. La transposición didáctica interna de la Revolución Industrial en manuales de enseñanza media: textualización de las nociones de cambio y causalidad/Internal didactic transposition of the Industrial Revolution in secondary school textbooks

    OpenAIRE

    Limorti, Paül

    2014-01-01

    Abstract: This paper analyses the pedagogical concept of didactic transposition by applying it to the case of the body of knowledge «Industrial Revolution» as textualized in a sample of five History textbooks for the 4th grade of the Spanish secondary education (ages 15-16). We pay special attention to the way notions of transformation and cause are discursively expressed. All of this in order to establish the foundations of a discursive analysis that would help to better know the grammatical...

  4. Analysis of strain-specific genes in glutamic acid-producing Corynebacterium glutamicum ssp. lactofermentum AJ 1511.

    Science.gov (United States)

    Nishio, Yousuke; Koseki, Chie; Tonouchi, Naoto; Matsui, Kazuhiko; Sugimoto, Shinichi; Usuda, Yoshihiro

    2017-07-11

    Strains of the bacterium, Corynebacterium glutamicum, are widely used for the industrial production of L-glutamic acid and various other substances. C. glutamicum ssp. lactofermentum AJ 1511, formerly classified as Brevibacterium lactofermentum, and the closely related C. glutamicum ATCC 13032 have been used as industrial strains for more than 50 years. We determined the whole genome sequence of C. glutamicum AJ 1511 and performed genome-wide comparative analysis with C. glutamicum ATCC 13032 to determine strain-specific genetic differences. This analysis revealed that the genomes of the two industrial strains are highly similar despite the phenotypic differences between the two strains. Both strains harbored unique genes but gene transpositions or inversions were not observed. The largest unique region, a 220-kb AT-rich region located between 1.78 and 2.00 Mb position in C. glutamicum ATCC 13032 genome, was missing in the genome of C. glutamicum AJ 1511. The next two largest unique regions were present in C. glutamicum AJ 1511. The first region (413-484 kb position) contains several predicted transport proteins, enzymes involved in sugar metabolism, and transposases. The second region (1.47-1.50 Mb position) encodes restriction modification systems. A gene predicted to encode NADH-dependent glutamate dehydrogenase, which is involved in L-glutamate biosynthesis, is present in C. glutamicum AJ 1511. Strain-specific genes identified in this study are likely to govern phenotypes unique to each strain.

  5. Impact of mutations in hemA and hemH genes on pyoverdine production by Pseudomonas fluorescens ATCC17400.

    Science.gov (United States)

    Baysse, C; Matthijs, S; Pattery, T; Cornelis, P

    2001-11-27

    A Pseudomonas fluorescens Tn5 mutant, with decreased production of the siderophore pyoverdine, was obtained, with the transposon inserted in the hemA gene coding for glutamyl tRNA reductase, the enzyme that catalyzes the first step of heme biosynthesis. Since this mutant was leaky, a second round of transposition was needed to obtain a second mutant completely auxotrophic for the heme precursor delta-aminolevulinate (ALA). Pyoverdine production by this mutant is ALA-dependent at concentrations above those needed to sustain growth. A transposon mutant in the hemH gene that encodes the enzyme ferrochelatase showing a characteristic red fluorescence upon UV exposure as a result of porphyrins accumulation, was obtained by selecting transconjugants on LB medium containing hemin. The DeltahemH mutant was characterized and the corresponding hemH gene sequenced. Antibodies against P. fluorescens HemH detected the protein both in soluble and membrane fractions of the wild-type and confirmed the absence of the enzyme in the mutant. The DeltahemH mutant failed to produce pyoverdine, but the production of the siderophore was restored by introduction of the Pseudomonas aeruginosa hemH gene in trans. These results indicate that de novo heme biosynthesis is needed for a normal level of siderophore pyoverdine production.

  6. The Identification of Intrinsic Chloramphenicol and Tetracycline Resistance Genes in Members of the Bacillus cereus Group (sensu lato)

    Science.gov (United States)

    Glenwright, Helen; Pohl, Susanne; Navarro, Ferran; Miro, Elisenda; Jiménez, Guillermo; Blanch, Anicet R.; Harwood, Colin R.

    2017-01-01

    Bacillus toyonensis strain BCT-7112T (NCIMB 14858T) has been widely used as an additive in animal nutrition for more than 30 years without reports of adverse toxigenic effects. However, this strain is resistant to chloramphenicol and tetracycline and it is generally considered inadvisable to introduce into the food chain resistance determinants capable of being transferred to other bacterial strains, thereby adding to the pool of such determinants in the gastro-enteric systems of livestock species. We therefore characterized the resistance phenotypes of this strain and its close relatives to determine whether they were of recent origin, and therefore likely to be transmissible. To this end we identified the genes responsible for chloramphenicol (catQ) and tetracycline (tetM) resistance and confirmed the presence of homologs in other members of the B. toyonensis taxonomic unit. Unexpectedly, closely related strains encoding these genes did not exhibit chloramphenicol and tetracycline resistance phenotypes. To understand the differences in the behaviors, we cloned and expressed the genes, together with their upstream regulatory regions, into Bacillus subtilis. The data showed that the genes encoded functional proteins, but were expressed inefficiently from their native promoters. B. toyonensis is a taxonomic unit member of the Bacillus cereus group (sensu lato). We therefore extended the analysis to determine the extent to which homologous chloramphenicol and tetracycline resistance genes were present in other species within this group. This analysis revealed that homologous genes were present in nearly all representative species within the B. cereus group (sensu lato). The absence of known transposition elements and the observations that they are found at the same genomic locations, indicates that these chloramphenicol and tetracycline resistance genes are of ancient origin and intrinsic to this taxonomic group, rather than recent acquisitions. In this context we

  7. Transposition of Domain Knowledge into Educational Games

    DEFF Research Database (Denmark)

    Marchetti, Emanuela; Jensen, Kristoffer; Valente, Andrea

    2014-01-01

    interactions, through the design of interactive media. PlayDT aims at facilitating the creation of a creative and easy understandable mapping between knowledge and interaction within the game. Multiple representations are encouraged, so to allow learners to express their own preferences, regarding their play...... experience. This study is based on reflections on three design-oriented research projects. The first one is MicroCulture (μC), a mixed-reality game, aimed at supporting learning of historical processes during guided tours in museums; it is targeted to primary school children. μC was developed through...... a participatory design process, involving task-supported interviews and co-design workshops with children between 9 and 12. Among the findings, a strategy to map knowledge into interactions emerged, together with rich insights about children’s different approaches to play. In an attempt to evaluate the knowledge...

  8. Anatomically corrected transposition of great vessels

    International Nuclear Information System (INIS)

    Ivanitskij, A.V.; Sarkisova, T.N.

    1989-01-01

    The paper is concerned with the description of rare congenital heart disease: anatomically corrected malposition of major vessels in a 9-mos 24 day old girl. The diagnosis of this disease was shown on the results of angiocardiography, concomitant congenital heart diseases were descibed. This abnormality is characterized by common atrioventricular and ventriculovascular joints and inversion position of the major vessels, it is always attended by congenital heart diseases. Surgical intervention is aimed at the elimination of concomitant heart dieseases

  9. Genes and Hearing Loss

    Science.gov (United States)

    ... ENTCareers Marketplace Find an ENT Doctor Near You Genes and Hearing Loss Genes and Hearing Loss Patient ... mutation may only have dystopia canthorum. How Do Genes Work? Genes are a road map for the ...

  10. The expanding universe of transposon technologies for gene and cell engineering

    Directory of Open Access Journals (Sweden)

    Ivics Zoltán

    2010-12-01

    Full Text Available Abstract Transposable elements can be viewed as natural DNA transfer vehicles that, similar to integrating viruses, are capable of efficient genomic insertion. The mobility of class II transposable elements (DNA transposons can be controlled by conditionally providing the transposase component of the transposition reaction. Thus, a DNA of interest (be it a fluorescent marker, a small hairpin (shRNA expression cassette, a mutagenic gene trap or a therapeutic gene construct cloned between the inverted repeat sequences of a transposon-based vector can be used for stable genomic insertion in a regulated and highly efficient manner. This methodological paradigm opened up a number of avenues for genome manipulations in vertebrates, including transgenesis for the generation of transgenic cells in tissue culture, the production of germline transgenic animals for basic and applied research, forward genetic screens for functional gene annotation in model species, and therapy of genetic disorders in humans. Sleeping Beauty (SB was the first transposon shown to be capable of gene transfer in vertebrate cells, and recent results confirm that SB supports a full spectrum of genetic engineering including transgenesis, insertional mutagenesis, and therapeutic somatic gene transfer both ex vivo and in vivo. The first clinical application of the SB system will help to validate both the safety and efficacy of this approach. In this review, we describe the major transposon systems currently available (with special emphasis on SB, discuss the various parameters and considerations pertinent to their experimental use, and highlight the state of the art in transposon technology in diverse genetic applications.

  11. Gene expression and gene therapy imaging

    International Nuclear Information System (INIS)

    Rome, Claire; Couillaud, Franck; Moonen, Chrit T.W.

    2007-01-01

    The fast growing field of molecular imaging has achieved major advances in imaging gene expression, an important element of gene therapy. Gene expression imaging is based on specific probes or contrast agents that allow either direct or indirect spatio-temporal evaluation of gene expression. Direct evaluation is possible with, for example, contrast agents that bind directly to a specific target (e.g., receptor). Indirect evaluation may be achieved by using specific substrate probes for a target enzyme. The use of marker genes, also called reporter genes, is an essential element of MI approaches for gene expression in gene therapy. The marker gene may not have a therapeutic role itself, but by coupling the marker gene to a therapeutic gene, expression of the marker gene reports on the expression of the therapeutic gene. Nuclear medicine and optical approaches are highly sensitive (detection of probes in the picomolar range), whereas MRI and ultrasound imaging are less sensitive and require amplification techniques and/or accumulation of contrast agents in enlarged contrast particles. Recently developed MI techniques are particularly relevant for gene therapy. Amongst these are the possibility to track gene therapy vectors such as stem cells, and the techniques that allow spatiotemporal control of gene expression by non-invasive heating (with MRI guided focused ultrasound) and the use of temperature sensitive promoters. (orig.)

  12. Nematicidal protease genes screened from a soil metagenomic library to control Radopholus similis mediated by Pseudomonas fluorescens pf36.

    Science.gov (United States)

    Chen, Deqiang; Wang, Dongwei; Xu, Chunling; Chen, Chun; Li, Junyi; Wu, Wenjia; Huang, Xin; Xie, Hui

    2018-04-01

    Controlling Radopholus similis, an important phytopathogenic nematode, is a challenge worldwide. Herein, we constructed a metagenomic fosmid library from the rhizosphere soil of banana plants, and six clones with protease activity were obtained by functionally screening the library. Furthermore, subclones were constructed using the six clones, and three protease genes with nematicidal activity were identified: pase1, pase4, and pase6. The pase4 gene was successfully cloned and expressed, demonstrating that the protease PASE4 could effectively degrade R. similis tissues and result in nematode death. Additionally, we isolated a predominant R. similis-associated bacterium, Pseudomonas fluorescens (pf36), from 10 R. similis populations with different hosts. The pase4 gene was successfully introduced into the pf36 strain by vector transformation and conjugative transposition, and two genetically modified strains were obtained: p4MCS-pf36 and p4Tn5-pf36. p4MCS-pf36 had significantly higher protease expression and nematicidal activity (p < 0.05) than p4Tn5-pf36 in a microtiter plate assay, whereas p4Tn5-pf36 was superior to p4MCS-pf36 in terms of genetic stability and controlling R. similis in growth pot tests. This study confirmed that R. similis is inhibited by the associated bacterium pf36-mediated expression of nematicidal proteases. Herein, a novel approach is provided for the study and development of efficient, environmentally friendly, and sustainable biocontrol techniques against phytonematodes.

  13. Imaging reporter gene for monitoring gene therapy

    International Nuclear Information System (INIS)

    Beco, V. de; Baillet, G.; Tamgac, F.; Tofighi, M.; Weinmann, P.; Vergote, J.; Moretti, J.L.; Tamgac, G.

    2002-01-01

    Scintigraphic images can be obtained to document gene function at cellular level. This approach is presented here and the use of a reporter gene to monitor gene therapy is described. Two main ways are presented: either the use of a reporter gene coding for an enzyme the action of which will be monitored by radiolabeled pro-drug, or a cellular receptor gene, the action of which is documented by a radio labeled cognate receptor ligand. (author)

  14. The globin gene family of the cephalochordate amphioxus: implications for chordate globin evolution

    Directory of Open Access Journals (Sweden)

    Marden Michael C

    2010-11-01

    Full Text Available Abstract Background The lancelet amphioxus (Cephalochordata is a close relative of vertebrates and thus may enhance our understanding of vertebrate gene and genome evolution. In this context, the globins are one of the best studied models for gene family evolution. Previous biochemical studies have demonstrated the presence of an intracellular globin in notochord tissue and myotome of amphioxus, but the corresponding gene has not yet been identified. Genomic resources of Branchiostoma floridae now facilitate the identification, experimental confirmation and molecular evolutionary analysis of its globin gene repertoire. Results We show that B. floridae harbors at least fifteen paralogous globin genes, all of which reveal evidence of gene expression. The protein sequences of twelve globins display the conserved characteristics of a functional globin fold. In phylogenetic analyses, the amphioxus globin BflGb4 forms a common clade with vertebrate neuroglobins, indicating the presence of this nerve globin in cephalochordates. Orthology is corroborated by conserved syntenic linkage of BflGb4 and flanking genes. The kinetics of ligand binding of recombinantly expressed BflGb4 reveals that this globin is hexacoordinated with a high oxygen association rate, thus strongly resembling vertebrate neuroglobin. In addition, possible amphioxus orthologs of the vertebrate globin X lineage and of the myoglobin/cytoglobin/hemoglobin lineage can be identified, including one gene as a candidate for being expressed in notochord tissue. Genomic analyses identify conserved synteny between amphioxus globin-containing regions and the vertebrate β-globin locus, possibly arguing against a late transpositional origin of the β-globin cluster in vertebrates. Some amphioxus globin gene structures exhibit minisatellite-like tandem duplications of intron-exon boundaries ("mirages", which may serve to explain the creation of novel intron positions within the globin genes

  15. Regional dissemination of a trimethoprim-resistance gene cassette via a successful transposable element.

    Directory of Open Access Journals (Sweden)

    Amy S Labar

    Full Text Available Antimicrobial resistance is a growing international problem. We observed a 50% increase in the prevalence of trimethoprim resistance among fecal Escherichia coli from healthy Nigerian students between 1998 and 2005, a trend to increase that continued in 2009.A PCR-based screen revealed that 131 (43.1% of isolates obtained in Nigeria in 2005 and 2009 carried integron-borne dfrA cassettes. In the case of 67 (51.1% of these isolates, the cassette was a class 1-integron-borne dfrA7 gene, which has been reported at high prevalence from E. coli isolates from other parts of Africa. Complete sequencing of a 27 Kb dfrA7-bearing plasmid from one isolate located the dfrA7 gene within a Tn21-type transposon. The transposon also contained an IS26-derived bla/sul/str element, encoding resistance to β-lactams, sulphonamides and streptomycin, and mercury resistance genes. Although the plasmid backbone was only found in 12 (5.8% of trimethoprim-resistant isolates, dfrA7 and other transposon-borne genes were detected in 14 (16.3% and 32 (26.3% of trimethoprim resistant isolates collected in Nigeria in 2005 and 2009, respectively. Additionally, 37 (19.3% of trimethoprim-resistant E. coli isolates collected between 2006 and 2008 from Ghana were positive for the dfrA7 and a transposon marker, but only 4 (2.1% harbored the plasmid backbone.Our data point to transposition as a principal mechanism for disseminating dfrA7 among E. coli from Nigeria and Ghana. On-going intensive use of the affordable broad-spectrum antibacterials is likely to promote selective success of a highly prevalent transposable element in West Africa.

  16. How Genes Evolve

    Indian Academy of Sciences (India)

    which they are found e.g. the evolution of the gene coding for the protein cytochrome-C which is part ofthe respiratory apparatus. On the contrary, paralogous genes are descendants of a duplicated gene. Paralogous genes therefore evolve within the same species as well as in different species e.g. genes coding for alpha ...

  17. O Comitê da Bacia Hidrográfica do Rio São Francisco e a Gestão das Águas: O Conflito Exposto a Partir da Transposição do Rio São Francisco | The São Francisco River Basin Committee and Water Management Conflict Arising from the Transposition of The River

    Directory of Open Access Journals (Sweden)

    Ana Paula Novais Pires

    2014-05-01

    Full Text Available Normal 0 21 false false false PT-BR X-NONE X-NONE Introduction: The São Francisco River Basin Committee (CBHSF was set up by presidential decree in 2001 with the aim of achieving decentralized and participatory management of its water. The São Francisco River flows overland for 2700 km from its source in the Serra da Canastra (MG to its mouth between Sergipe (SE and Alagoas (AL. The river passes through the states of Bahia (BA, Pernambuco (PE, Goiás (GO and the Federal District (DF. Central to the discussion in this research on the transposition of the São Francisco River is question of conflict concerning water management in the São Francisco River Basin Committee, making a nonsense of its power to function, contrary to the project, and the Federal Government which initiated the work and approved the budget. Hence, this study aims to analyze water management in the São Francisco river basin from the initiation of the CBHSF in order to understand how approval of the project and implementation of the work ran against the statutory representation of the committee. Methodology and Development: Having a qualitative approach, the study will be divided between theoretical research based on authors who study the topic of water and its transformation into a water resource and the major landowners of the north-east semi-arid zone in the context of transposition; the dynamics and politics of the river basin; as well as the role of the river basin committees in the process of decentralizing Brazilian water management, specifically concerning the São Francisco River and its state and interstate committees. Documentary research will take into account National Water Resources Law 9.433/1997; state water policies; documentary archives of the river basin committees (state and interstate, as well as the agencies participating in the integration project, such as the National Water Agency (ANA, the Integration Ministry (MI, and the Environment Ministry (MMA

  18. Dancing together and separate again: gymnosperms exhibit frequent changes of fundamental 5S and 35S rRNA gene (rDNA) organisation.

    Science.gov (United States)

    Garcia, S; Kovařík, A

    2013-07-01

    In higher eukaryotes, the 5S rRNA genes occur in tandem units and are arranged either separately (S-type arrangement) or linked to other repeated genes, in most cases to rDNA locus encoding 18S-5.8S-26S genes (L-type arrangement). Here we used Southern blot hybridisation, PCR and sequencing approaches to analyse genomic organisation of rRNA genes in all large gymnosperm groups, including Coniferales, Ginkgoales, Gnetales and Cycadales. The data are provided for 27 species (21 genera). The 5S units linked to the 35S rDNA units occur in some but not all Gnetales, Coniferales and in Ginkgo (∼30% of the species analysed), while the remaining exhibit separate organisation. The linked 5S rRNA genes may occur as single-copy insertions or as short tandems embedded in the 26S-18S rDNA intergenic spacer (IGS). The 5S transcript may be encoded by the same (Ginkgo, Ephedra) or opposite (Podocarpus) DNA strand as the 18S-5.8S-26S genes. In addition, pseudogenised 5S copies were also found in some IGS types. Both L- and S-type units have been largely homogenised across the genomes. Phylogenetic relationships based on the comparison of 5S coding sequences suggest that the 5S genes independently inserted IGS at least three times in the course of gymnosperm evolution. Frequent transpositions and rearrangements of basic units indicate relatively relaxed selection pressures imposed on genomic organisation of 5S genes in plants.

  19. Imaging gene expression in gene therapy

    International Nuclear Information System (INIS)

    Wiebe, Leonard I.

    1997-01-01

    Full text. Gene therapy can be used to introduce new genes, or to supplement the function of indigenous genes. At the present time, however, there is non-invasive test to demonstrate efficacy of the gene transfer and expression processes. It has been postulated that scintigraphic imaging can offer unique information on both the site at which the transferred gene is expressed, and the degree of expression, both of which are critical issue for safety and clinical efficacy. Many current studies are based on 'suicide gene therapy' of cancer. Cells modified to express these genes commit metabolic suicide in the presence of an enzyme encoded by the transferred gene and a specifically-convertible pro drug. Pro drug metabolism can lead to selective metabolic trapping, required for scintigraphy. Herpes simplex virus type-1 thymidine kinase (H S V-1 t k + ) has been use for 'suicide' in vivo tumor gene therapy. It has been proposed that radiolabelled nucleosides can be used as radiopharmaceuticals to detect H S V-1 t k + gene expression where the H S V-1 t k + gene serves a reporter or therapeutic function. Animal gene therapy models have been studied using purine-([ 18 F]F H P G; [ 18 F]-A C V), and pyrimidine- ([ 123 / 131 I]I V R F U; [ 124 / 131I ]) antiviral nucleosides. Principles of gene therapy and gene therapy imaging will be reviewed and experimental data for [ 123 / 131I ]I V R F U imaging with the H S V-1 t k + reporter gene will be presented

  20. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

    Directory of Open Access Journals (Sweden)

    Sebastian Pita

    2013-05-01

    Full Text Available In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae. The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome or both sex chromosomes (X and Y chromosomes. This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences.

  1. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

    Science.gov (United States)

    Pita, Sebastián; Panzera, Francisco; Ferrandis, Inés; Galvão, Cleber; Gómez-Palacio, Andrés; Panzera, Yanina

    2013-01-01

    In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae). The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome) or both sex chromosomes (X and Y chromosomes). This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes) and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences. PMID:23778665

  2. A PiggyBac-mediated approach for muscle gene transfer or cell therapy

    Directory of Open Access Journals (Sweden)

    Déborah Ley

    2014-11-01

    Full Text Available An emerging therapeutic approach for Duchenne muscular dystrophy is the transplantation of autologous myogenic progenitor cells genetically modified to express dystrophin. The use of this approach is challenged by the difficulty in maintaining these cells ex vivo while keeping their myogenic potential, and ensuring sufficient transgene expression following their transplantation and myogenic differentiation in vivo. We investigated the use of the piggyBac transposon system to achieve stable gene expression when transferred to cultured mesoangioblasts and into murine muscles. Without selection, up to 8% of the mesoangioblasts expressed the transgene from 1 to 2 genomic copies of the piggyBac vector. Integration occurred mostly in intergenic genomic DNA and transgene expression was stable in vitro. Intramuscular transplantation of mouse Tibialis anterior muscles with mesoangioblasts containing the transposon led to sustained myofiber GFP expression in vivo. In contrast, the direct electroporation of the transposon-donor plasmids in the mouse Tibialis muscles in vivo did not lead to sustained transgene expression despite molecular evidence of piggyBac transposition in vivo. Together these findings provide a proof-of-principle that piggyBac transposon may be considered for mesoangioblast cell-based therapies of muscular dystrophies.

  3. Sleeping Beauty transposon-based system for cellular reprogramming and targeted gene insertion in induced pluripotent stem cells

    Science.gov (United States)

    Grabundzija, Ivana; Wang, Jichang; Sebe, Attila; Erdei, Zsuzsanna; Kajdi, Robert; Devaraj, Anantharam; Steinemann, Doris; Szuhai, Károly; Stein, Ulrike; Cantz, Tobias; Schambach, Axel; Baum, Christopher; Izsvák, Zsuzsanna; Sarkadi, Balázs; Ivics, Zoltán

    2013-01-01

    The discovery of direct cell reprogramming and induced pluripotent stem (iPS) cell technology opened up new avenues for the application of non-viral, transposon-based gene delivery systems. The Sleeping Beauty (SB) transposon is highly advanced for versatile genetic manipulations in mammalian cells. We established iPS cell reprogramming of mouse embryonic fibroblasts and human foreskin fibroblasts by transposition of OSKM (Oct4, Sox2, Klf4 and c-Myc) and OSKML (OSKM + Lin28) expression cassettes mobilized by the SB100X hyperactive transposase. The efficiency of iPS cell derivation with SB transposon system was in the range of that obtained with retroviral vectors. Co-expression of the miRNA302/367 cluster together with OSKM significantly improved reprogramming efficiency and accelerated the temporal kinetics of reprogramming. The iPS cells displayed a stable karyotype, and hallmarks of pluripotency including expression of stem cell markers and the ability to differentiate into embryoid bodies in vitro. We demonstrate Cre recombinase-mediated exchange allowing simultaneous removal of the reprogramming cassette and targeted knock-in of an expression cassette of interest into the transposon-tagged locus in mouse iPS cells. This strategy would allow correction of a genetic defect by site-specific insertion of a therapeutic gene construct into ‘safe harbor’ sites in the genomes of autologous, patient-derived iPS cells. PMID:23275558

  4. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

    Science.gov (United States)

    Nuttle, Xander; Giannuzzi, Giuliana; Duyzend, Michael H; Schraiber, Joshua G; Narvaiza, Iñigo; Sudmant, Peter H; Penn, Osnat; Chiatante, Giorgia; Malig, Maika; Huddleston, John; Benner, Chris; Camponeschi, Francesca; Ciofi-Baffoni, Simone; Stessman, Holly A F; Marchetto, Maria C N; Denman, Laura; Harshman, Lana; Baker, Carl; Raja, Archana; Penewit, Kelsi; Janke, Nicolette; Tang, W Joyce; Ventura, Mario; Banci, Lucia; Antonacci, Francesca; Akey, Joshua M; Amemiya, Chris T; Gage, Fred H; Reymond, Alexandre; Eichler, Evan E

    2016-08-11

    Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, are equally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2 accounts for approximately 1% of cases of autism and is mediated by a complex set of segmental duplications, many of which arose recently during human evolution. Here we reconstruct the evolutionary history of the locus and identify bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens. We estimate that a 95-kilobase-pair segment containing BOLA2 duplicated across the critical region approximately 282 thousand years ago (ka), one of the latest among a series of genomic changes that dramatically restructured the locus during hominid evolution. All humans examined carried one or more copies of the duplication, which nearly fixed early in the human lineage--a pattern unlikely to have arisen so rapidly in the absence of selection (P sapiens-specific duplication. In summary, the duplicative transposition of BOLA2 at the root of the H. sapiens lineage about 282 ka simultaneously increased copy number of a gene associated with iron homeostasis and predisposed our species to recurrent rearrangements associated with disease.

  5. Gene cluster statistics with gene families.

    Science.gov (United States)

    Raghupathy, Narayanan; Durand, Dannie

    2009-05-01

    Identifying genomic regions that descended from a common ancestor is important for understanding the function and evolution of genomes. In distantly related genomes, clusters of homologous gene pairs are evidence of candidate homologous regions. Demonstrating the statistical significance of such "gene clusters" is an essential component of comparative genomic analyses. However, currently there are no practical statistical tests for gene clusters that model the influence of the number of homologs in each gene family on cluster significance. In this work, we demonstrate empirically that failure to incorporate gene family size in gene cluster statistics results in overestimation of significance, leading to incorrect conclusions. We further present novel analytical methods for estimating gene cluster significance that take gene family size into account. Our methods do not require complete genome data and are suitable for testing individual clusters found in local regions, such as contigs in an unfinished assembly. We consider pairs of regions drawn from the same genome (paralogous clusters), as well as regions drawn from two different genomes (orthologous clusters). Determining cluster significance under general models of gene family size is computationally intractable. By assuming that all gene families are of equal size, we obtain analytical expressions that allow fast approximation of cluster probabilities. We evaluate the accuracy of this approximation by comparing the resulting gene cluster probabilities with cluster probabilities obtained by simulating a realistic, power-law distributed model of gene family size, with parameters inferred from genomic data. Surprisingly, despite the simplicity of the underlying assumption, our method accurately approximates the true cluster probabilities. It slightly overestimates these probabilities, yielding a conservative test. We present additional simulation results indicating the best choice of parameter values for data

  6. Stem loop sequences specific to transposable element IS605 are found linked to lipoprotein genes in Borrelia plasmids.

    Directory of Open Access Journals (Sweden)

    Nicholas Delihas

    Full Text Available BACKGROUND: Plasmids of Borrelia species are dynamic structures that contain a large number of repetitive genes, gene fragments, and gene fusions. In addition, the transposable element IS605/200 family, as well as degenerate forms of this IS element, are prevalent. In Helicobacter pylori, flanking regions of the IS605 transposase gene contain sequences that fold into identical small stem loops. These function in transposition at the single-stranded DNA level. METHODOLOGY/PRINCIPAL FINDINGS: In work reported here, bioinformatics techniques were used to scan Borrelia plasmid genomes for IS605 transposable element specific stem loop sequences. Two variant stem loop motifs are found in the left and right flanking regions of the transposase gene. Both motifs appear to have dispersed in plasmid genomes and are found "free-standing" and phylogenetically conserved without the associated IS605 transposase gene or the adjacent flanking sequence. Importantly, IS605 specific stem loop sequences are also found at the 3' ends of lipoprotein genes (PFam12 and PFam60, however the left and right sequences appear to develop their own evolutionary patterns. The lipoprotein gene-linked left stem loop sequences maintain the IS605 stem loop motif in orthologs but only at the RNA level. These show mutations whereby variants fold into phylogenetically conserved RNA-type stem loops that contain the wobble non-Watson-Crick G-U base-pairing. The right flanking sequence is associated with the family lipoprotein-1 genes. A comparison of homologs shows that the IS605 stem loop motif rapidly dissipates, but a more elaborate secondary structure appears to develop in its place. CONCLUSIONS/SIGNIFICANCE: Stem loop sequences specific to the transposable element IS605 are present in plasmid regions devoid of a transposase gene and significantly, are found linked to lipoprotein genes in Borrelia plasmids. These sequences are evolutionarily conserved and/or structurally developed in

  7. Essential Bacillus subtilis genes

    NARCIS (Netherlands)

    Kobayashi, K.; Ehrlich, S.D.; Albertini, A.; Amati, G.; Andersen, K.K.; Arnaud, M.; Asai, K.; Ashikaga, S.; Aymerich, S.; Bessieres, P.; Boland, F.; Brignell, S.C.; Bron, S; Bunai, K.; Chapuis, J; Christiansen, L.C.; Danchin, A.; Debarbouille, M.; Dervyn, E.; Deuerling, E.; Devine, K.; Devine, S.K.; Dreesen, O.; Errington, J.; Fillinger, S.; Foster, S.J.; Fujita, Y.; Galizzi, A.; Gardan, R.; Eschevins, C.; Fukushima, T.; Haga, K.; Harwood, C.R; Hecker, M.; Hosoya, D.; Hullo, M.F.; Kakeshita, H.; Karamata, D.; Kasahara, Y.; Kawamura, F.; Koga, K.; Koski, P.; Kuwana, R.; Imamura, D.; Ishimaru, M.; Ishikawa, S.; Ishio, I.; Le Coq, D.; Masson, A.; Mauel, C.; Meima, Roelf; Mellado, R.P.; Moir, A.; Moriya, S.; Nagakawa, E.; Nanamiya, H.; Nakai, S.; Nygaard, P.; Ogura, M.; Ohanan, T.; O'Reilly, M.; O'Rourke, M.; Pragai, Z.; Pooley, H.M.; Rapoport, G.; Rawlins, J.P.; Rivas, L.A.; Rivolta, C.; Sadaie, A.; Sadaie, Y.; Sarvas, M; Sato, T.; Saxild, H.H.; Scanlan, E.; Schumann, W; Seegers, J.F. M. L.; Sekiguchi, J.; Sekowska, A.; Seror, S.J.; Simon, M.; Stragier, P.; Studer, R.; Takamatsu, H.; Tanaka, T.; Takeuchi, M.; Thomaides, H.B.; Vagner, V.; van Dijl, J.M.; Watabe, K.; Wipat, A; Yamamoto, H.; Yamamoto, M.; Yamamoto, Y.; Yamane, K.; Yata, K.; Yoshida, K.; Yoshikawa, H.; Zuber, U.; Ogasawara, N.; Ishio, [No Value

    2003-01-01

    To estimate the minimal gene set required to sustain bacterial life in nutritious conditions, we carried out a systematic inactivation of Bacillus subtilis genes. Among approximate to4,100 genes of the organism, only 192 were shown to be indispensable by this or previous work. Another 79 genes were

  8. Silence of the Genes

    Indian Academy of Sciences (India)

    Srimath

    The human genome codes for ~35,000 genes and all these genes are not expressed in every cell. The time and site of gene expression is very precisely regulated. In any cell, only. Silence of the Genes. 2006 Nobel Prize in Physiology or Medicine. Utpal Nath and Saumitra Das. Keywords. RNA interference, siRNA,.

  9. RNA-seq de novo Assembly Reveals Differential Gene Expression in Glossina palpalis gambiensis Infected with Trypanosoma brucei gambiense vs. Non-Infected and Self-Cured Flies.

    Science.gov (United States)

    Hamidou Soumana, Illiassou; Klopp, Christophe; Ravel, Sophie; Nabihoudine, Ibouniyamine; Tchicaya, Bernadette; Parrinello, Hugues; Abate, Luc; Rialle, Stéphanie; Geiger, Anne

    2015-01-01

    Trypanosoma brucei gambiense (Tbg), causing the sleeping sickness chronic form, completes its developmental cycle within the tsetse fly vector Glossina palpalis gambiensis (Gpg) before its transmission to humans. Within the framework of an anti-vector disease control strategy, a global gene expression profiling of trypanosome infected (susceptible), non-infected, and self-cured (refractory) tsetse flies was performed, on their midguts, to determine differential genes expression resulting from in vivo trypanosomes, tsetse flies (and their microbiome) interactions. An RNAseq de novo assembly was achieved. The assembled transcripts were mapped to reference sequences for functional annotation. Twenty-four percent of the 16,936 contigs could not be annotated, possibly representing untranslated mRNA regions, or Gpg- or Tbg-specific ORFs. The remaining contigs were classified into 65 functional groups. Only a few transposable elements were present in the Gpg midgut transcriptome, which may represent active transpositions and play regulatory roles. One thousand three hundred and seventy three genes differentially expressed (DEGs) between stimulated and non-stimulated flies were identified at day-3 post-feeding; 52 and 1025 between infected and self-cured flies at 10 and 20 days post-feeding, respectively. The possible roles of several DEGs regarding fly susceptibility and refractoriness are discussed. The results provide new means to decipher fly infection mechanisms, crucial to develop anti-vector control strategies.

  10. New insights into the evolutionary origins of the recombination-activating gene proteins and V(D)J recombination.

    Science.gov (United States)

    Carmona, Lina Marcela; Schatz, David G

    2017-06-01

    The adaptive immune system of jawed vertebrates relies on V(D)J recombination as one of the main processes to generate the diverse array of receptors necessary for the recognition of a wide range of pathogens. The DNA cleavage reaction necessary for the assembly of the antigen receptor genes from an array of potential gene segments is mediated by the recombination-activating gene proteins RAG1 and RAG2. The RAG proteins have been proposed to originate from a transposable element (TE) as they share mechanistic and structural similarities with several families of transposases and are themselves capable of mediating transposition. A number of RAG-like proteins and TEs with sequence similarity to RAG1 and RAG2 have been identified, but only recently has their function begun to be characterized, revealing mechanistic links to the vertebrate RAGs. Of particular significance is the discovery of ProtoRAG, a transposon superfamily found in the genome of the basal chordate amphioxus. ProtoRAG has many of the sequence and mechanistic features predicted for the ancestral RAG transposon and is likely to be an evolutionary relative of RAG1 and RAG2. In addition, early observations suggesting that RAG1 is able to mediate V(D)J recombination in the absence of RAG2 have been confirmed, implying independent evolutionary origins for the two RAG genes. Here, recent progress in identifying and characterizing RAG-like proteins and the TEs that encode them is summarized and a refined model for the evolution of V(D)J recombination and the RAG proteins is presented. © 2016 Federation of European Biochemical Societies.

  11. Human Gene Therapy: Genes without Frontiers?

    Science.gov (United States)

    Simon, Eric J.

    2002-01-01

    Describes the latest advancements and setbacks in human gene therapy to provide reference material for biology teachers to use in their science classes. Focuses on basic concepts such as recombinant DNA technology, and provides examples of human gene therapy such as severe combined immunodeficiency syndrome, familial hypercholesterolemia, and…

  12. Ty3 GAG3 and POL3 genes encode the components of intracellular particles.

    Science.gov (United States)

    Hansen, L J; Chalker, D L; Orlinsky, K J; Sandmeyer, S B

    1992-03-01

    Ty3 is a Saccharomyces cerevisiae retrotransposon that integrates near the transcription initiation sites of polymerase III-transcribed genes. It is distinct from the copialike Ty1 and Ty2 retrotransposons of S. cerevisiae in both the sequences of encoded proteins and gene order. It is a member of the gypsylike family of retrotransposons which resemble animal retroviruses. This study was undertaken to investigate the nucleocapsid particle of a transpositionally active gypsylike retrotransposon. Characterization of extracts from cells in which Ty3 expression was induced showed the presence of Ty3 nucleoprotein complexes, or viruslike particles, that migrated on linear sucrose gradients with a size of 156S. These particles are composed of Ty3 RNA, full-length, linear DNA, and proteins. In this study, antibodies raised against peptides predicted from the Ty3 sequence were used to identify Ty3-encoded proteins. These include the capsid (26 kDa), nucleocapsid (9 kDa), and reverse transcriptase (55 kDa) proteins. Ty3 integrase proteins of 61 and 58 kDa were identified previously (L. J. Hansen and S. B. Sandmeyer, J. Virol. 64:2599-2607, 1990). Reverse transcriptase activity associated with the particles was measured by using exogenous and endogenous primer-templates. Immunofluorescence studies of cells overexpressing Ty3 revealed cytoplasmic clusters of immunoreactive proteins. Transmission electron microscopy showed that Ty3 viruslike particles are about 50 nm in diameter. Thus, despite the unusual position specificity of Ty3 upstream of tRNA-coding regions, aspects of the Ty3 life cycle are fundamentally similar to those of retroviruses.

  13. Natural transformation facilitates transfer of transposons, integrons and gene cassettes between bacterial species.

    Science.gov (United States)

    Domingues, Sara; Harms, Klaus; Fricke, W Florian; Johnsen, Pål J; da Silva, Gabriela J; Nielsen, Kaare Magne

    2012-01-01

    We have investigated to what extent natural transformation acting on free DNA substrates can facilitate transfer of mobile elements including transposons, integrons and/or gene cassettes between bacterial species. Naturally transformable cells of Acinetobacter baylyi were exposed to DNA from integron-carrying strains of the genera Acinetobacter, Citrobacter, Enterobacter, Escherichia, Pseudomonas, and Salmonella to determine the nature and frequency of transfer. Exposure to the various DNA sources resulted in acquisition of antibiotic resistance traits as well as entire integrons and transposons, over a 24 h exposure period. DNA incorporation was not solely dependent on integrase functions or the genetic relatedness between species. DNA sequence analyses revealed that several mechanisms facilitated stable integration in the recipient genome depending on the nature of the donor DNA; homologous or heterologous recombination and various types of transposition (Tn21-like and IS26-like). Both donor strains and transformed isolates were extensively characterized by antimicrobial susceptibility testing, integron- and cassette-specific PCRs, DNA sequencing, pulsed field gel electrophoreses (PFGE), Southern blot hybridizations, and by re-transformation assays. Two transformant strains were also genome-sequenced. Our data demonstrate that natural transformation facilitates interspecies transfer of genetic elements, suggesting that the transient presence of DNA in the cytoplasm may be sufficient for genomic integration to occur. Our study provides a plausible explanation for why sequence-conserved transposons, IS elements and integrons can be found disseminated among bacterial species. Moreover, natural transformation of integron harboring populations of competent bacteria revealed that interspecies exchange of gene cassettes can be highly efficient, and independent on genetic relatedness between donor and recipient. In conclusion, natural transformation provides a much

  14. Tumor targeted gene therapy

    International Nuclear Information System (INIS)

    Kang, Joo Hyun

    2006-01-01

    Knowledge of molecular mechanisms governing malignant transformation brings new opportunities for therapeutic intervention against cancer using novel approaches. One of them is gene therapy based on the transfer of genetic material to an organism with the aim of correcting a disease. The application of gene therapy to the cancer treatment had led to the development of new experimental approaches such as suicidal gene therapy, inhibition of oncogenes and restoration of tumor-suppressor genes. Suicidal gene therapy is based on the expression in tumor cells of a gene encoding an enzyme that converts a prodrug into a toxic product. Representative suicidal genes are Herpes simplex virus type 1 thymidine kinase (HSV1-tk) and cytosine deaminase (CD). Especially, physicians and scientists of nuclear medicine field take an interest in suicidal gene therapy because they can monitor the location and magnitude, and duration of expression of HSV1-tk and CD by PET scanner

  15. Essential Bacillus subtilis genes

    DEFF Research Database (Denmark)

    Kobayashi, K.; Ehrlich, S.D.; Albertini, A.

    2003-01-01

    To estimate the minimal gene set required to sustain bacterial life in nutritious conditions, we carried out a systematic inactivation of Bacillus subtilis genes. Among approximate to4,100 genes of the organism, only 192 were shown to be indispensable by this or previous work. Another 79 genes were...... predicted to be essential. The vast majority of essential genes were categorized in relatively few domains of cell metabolism, with about half involved in information processing, one-fifth involved in the synthesis of cell envelope and the determination of cell shape and division, and one-tenth related...... to cell energetics. Only 4% of essential genes encode unknown functions. Most essential genes are present throughout a wide range of Bacteria, and almost 70% can also be found in Archaea and Eucarya. However, essential genes related to cell envelope, shape, division, and respiration tend to be lost from...

  16. Epigenetics: beyond genes

    CSIR Research Space (South Africa)

    Fossey, A

    2009-06-01

    Full Text Available Gene regulatory processes lead to differential gene expression and are referred to as epigenetic phenomena; these are ubiquitous processes in the biological world. These reversible heritable changes concern DNA and RNA, their interactions...

  17. Evolution of gene expression after gene amplification.

    Science.gov (United States)

    Garcia, Nelson; Zhang, Wei; Wu, Yongrui; Messing, Joachim

    2015-04-24

    We took a rather unique approach to investigate the conservation of gene expression of prolamin storage protein genes across two different subfamilies of the Poaceae. We took advantage of oat plants carrying single maize chromosomes in different cultivars, called oat-maize addition (OMA) lines, which permitted us to determine whether regulation of gene expression was conserved between the two species. We found that γ-zeins are expressed in OMA7.06, which carries maize chromosome 7 even in the absence of the trans-acting maize prolamin-box-binding factor (PBF), which regulates their expression. This is likely because oat PBF can substitute for the function of maize PBF as shown in our transient expression data, using a γ-zein promoter fused to green fluorescent protein (GFP). Despite this conservation, the younger, recently amplified prolamin genes in maize, absent in oat, are not expressed in the corresponding OMAs. However, maize can express the oldest prolamin gene, the wheat high-molecular weight glutenin Dx5 gene, even when maize Pbf is knocked down (through PbfRNAi), and/or another maize transcription factor, Opaque-2 (O2) is knocked out (in maize o2 mutant). Therefore, older genes are conserved in their regulation, whereas younger ones diverged during evolution and eventually acquired a new repertoire of suitable transcriptional activators. © The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  18. MR REPORTER GENES

    OpenAIRE

    Gilad, Assaf A.; Ziv, Keren; McMahon, Michael T.; van Zijl, Peter C.M.; Neeman, Michal; Bulte, Jeff W.M.

    2008-01-01

    Non-invasive molecular imaging of dynamic processes has benefited tremendously from the use of reporter genes. These genes encode for proteins that emit light, bind radiolabeled probes or, as covered in this review, modulate magnetic resonance (MR) contrast. Reporter genes play a pivotal role in monitoring cell trafficking, gene replacement therapy, protein-protein interactions, neuronal plasticity and embryonic development. Several strategies exist for generating MR contrast: enzyme-catalyze...

  19. Radiotechnologies and gene therapy

    International Nuclear Information System (INIS)

    Xia Jinsong

    2001-01-01

    Gene therapy is an exciting frontier in medicine today. Radiologist will make an uniquely contribution to these exciting new technologies at every level by choosing sites for targeting therapy, perfecting and establishing routes of delivery, developing imaging strategies to monitor therapy and assess gene expression, developing radiotherapeutic used of gene therapy

  20. Silence of the Genes

    Indian Academy of Sciences (India)

    Srimath

    tary to the endogenous sense mRNA produced by the normal gene. The antisense strand binds to the sense strand and blocks protein synthesis. This method of gene inhibition was termed antisense technology. The antisense technology soon became a. RNA interference. (RNAi) is a novel mechanism for controlling gene.

  1. Discovering genes underlying QTL

    Energy Technology Data Exchange (ETDEWEB)

    Vanavichit, Apichart [Kasetsart University, Kamphaengsaen, Nakorn Pathom (Thailand)

    2002-02-01

    A map-based approach has allowed scientists to discover few genes at a time. In addition, the reproductive barrier between cultivated rice and wild relatives has prevented us from utilizing the germ plasm by a map-based approach. Most genetic traits important to agriculture or human diseases are manifested as observable, quantitative phenotypes called Quantitative Trait Loci (QTL). In many instances, the complexity of the phenotype/genotype interaction and the general lack of clearly identifiable gene products render the direct molecular cloning approach ineffective, thus additional strategies like genome mapping are required to identify the QTL in question. Genome mapping requires no prior knowledge of the gene function, but utilizes statistical methods to identify the most likely gene location. To completely characterize genes of interest, the initially mapped region of a gene location will have to be narrowed down to a size that is suitable for cloning and sequencing. Strategies for gene identification within the critical region have to be applied after the sequencing of a potentially large clone or set of clones that contains this gene(s). Tremendous success of positional cloning has been shown for cloning many genes responsible for human diseases, including cystic fibrosis and muscular dystrophy as well as plant disease resistance genes. Genome and QTL mapping, positional cloning: the pre-genomics era, comparative approaches to gene identification, and positional cloning: the genomics era are discussed in the report. (M. Suetake)

  2. Discovering genes underlying QTL

    International Nuclear Information System (INIS)

    Vanavichit, Apichart

    2002-01-01

    A map-based approach has allowed scientists to discover few genes at a time. In addition, the reproductive barrier between cultivated rice and wild relatives has prevented us from utilizing the germ plasm by a map-based approach. Most genetic traits important to agriculture or human diseases are manifested as observable, quantitative phenotypes called Quantitative Trait Loci (QTL). In many instances, the complexity of the phenotype/genotype interaction and the general lack of clearly identifiable gene products render the direct molecular cloning approach ineffective, thus additional strategies like genome mapping are required to identify the QTL in question. Genome mapping requires no prior knowledge of the gene function, but utilizes statistical methods to identify the most likely gene location. To completely characterize genes of interest, the initially mapped region of a gene location will have to be narrowed down to a size that is suitable for cloning and sequencing. Strategies for gene identification within the critical region have to be applied after the sequencing of a potentially large clone or set of clones that contains this gene(s). Tremendous success of positional cloning has been shown for cloning many genes responsible for human diseases, including cystic fibrosis and muscular dystrophy as well as plant disease resistance genes. Genome and QTL mapping, positional cloning: the pre-genomics era, comparative approaches to gene identification, and positional cloning: the genomics era are discussed in the report. (M. Suetake)

  3. Gene mutations and genomic rearrangements in the mouse as a result of transposon mobilization from chromosomal concatemers.

    Directory of Open Access Journals (Sweden)

    Aron M Geurts

    2006-09-01

    Full Text Available Previous studies of the Sleeping Beauty (SB transposon system, as an insertional mutagen in the germline of mice, have used reverse genetic approaches. These studies have led to its proposed use for regional saturation mutagenesis by taking a forward-genetic approach. Thus, we used the SB system to mutate a region of mouse Chromosome 11 in a forward-genetic screen for recessive lethal and viable phenotypes. This work represents the first reported use of an insertional mutagen in a phenotype-driven approach. The phenotype-driven approach was successful in both recovering visible and behavioral mutants, including dominant limb and recessive behavioral phenotypes, and allowing for the rapid identification of candidate gene disruptions. In addition, a high frequency of recessive lethal mutations arose as a result of genomic rearrangements near the site of transposition, resulting from transposon mobilization. The results suggest that the SB system could be used in a forward-genetic approach to recover interesting phenotypes, but that local chromosomal rearrangements should be anticipated in conjunction with single-copy, local transposon insertions in chromosomes. Additionally, these mice may serve as a model for chromosome rearrangements caused by transposable elements during the evolution of vertebrate genomes.

  4. Development of stable reporter system cloning luxCDABE genes into chromosome of Salmonella enterica serotypes using Tn7 transposon

    Directory of Open Access Journals (Sweden)

    Lawrence Mark L

    2010-07-01

    Full Text Available Abstract Background Salmonellosis may be a food safety problem when raw food products are mishandled and not fully cooked. In previous work, we developed bioluminescent Salmonella enterica serotypes using a plasmid-based reporting system that can be used for real-time monitoring of the pathogen's growth on food products in short term studies. In this study, we report the use of a Tn7-based transposon system for subcloning of luxCDABE genes into the chromosome of eleven Salmonella enterica serotypes isolated from the broiler production continuum. Results We found that the lux operon is constitutively expressed from the chromosome post-transposition and the lux cassette is stable without external pressure, i.e. antibiotic selection, for all Salmonella enterica serotypes used. Bioluminescence expression is based on an active electron transport chain and is directly related with metabolic activity. This relationship was quantified by measuring bioluminescence against a temperature gradient in aqueous solution using a luminometer. In addition, bioluminescent monitoring of two serotypes confirmed that our chicken skin model has the potential to be used to evaluate pathogen mitigation strategies. Conclusions This study demonstrated that our new stable reporting system eliminates bioluminescence variation due to plasmid instability and provides a reliable real-time experimental system to study application of preventive measures for Salmonella on food products in real-time for both short and long term studies.

  5. Carboxylesterase 1 genes

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Madsen, Majbritt Busk

    2018-01-01

    The carboxylesterase 1 gene (CES1) encodes a hydrolase that metabolizes commonly used drugs. The CES1-related pseudogene, carboxylesterase 1 pseudogene 1 (CES1P1), has been implicated in gene exchange with CES1 and in the formation of hybrid genes including the carboxylesterase 1A2 gene (CES1A2...... region was revealed. In conclusion, many procedures for CES1, CES1A2 and CES1P1 genotyping appear to lack specificity. Knowledge about the segmental duplications may improve the typing of these genes....

  6. Gene therapy: An overview

    Directory of Open Access Journals (Sweden)

    Sudip Indu

    2013-01-01

    Full Text Available Gene therapy "the use of genes as medicine" involves the transfer of a therapeutic or working copy of a gene into specific cells of an individual in order to repair a faulty gene copy. The technique may be used to replace a faulty gene, or to introduce a new gene whose function is to cure or to favorably modify the clinical course of a condition. The objective of gene therapy is to introduce new genetic material into target cells while causing no damage to the surrounding healthy cells and tissues, hence the treatment related morbidity is decreased. The delivery system includes a vector that delivers a therapeutic gene into the patient′s target cell. Functional proteins are created from the therapeutic gene causing the cell to return to a normal stage. The vectors used in gene therapy can be viral and non-viral. Gene therapy, an emerging field of biomedicine, is still at infancy and much research remains to be done before this approach to the treatment of condition will realize its full potential.

  7. Human gene essentiality.

    Science.gov (United States)

    Bartha, István; di Iulio, Julia; Venter, J Craig; Telenti, Amalio

    2018-01-01

    A gene can be defined as essential when loss of its function compromises viability of the individual (for example, embryonic lethality) or results in profound loss of fitness. At the population level, identification of essential genes is accomplished by observing intolerance to loss-of-function variants. Several computational methods are available to score gene essentiality, and recent progress has been made in defining essentiality in the non-coding genome. Haploinsufficiency is emerging as a critical aspect of gene essentiality: approximately 3,000 human genes cannot tolerate loss of one of the two alleles. Genes identified as essential in human cell lines or knockout mice may be distinct from those in living humans. Reconciling these discrepancies in how we evaluate gene essentiality has applications in clinical genetics and may offer insights for drug development.

  8. Chromosomal Integration of the Klebsiella pneumoniae Carbapenemase Gene,blaKPC, in Klebsiella Species Is Elusive but Not Rare.

    Science.gov (United States)

    Mathers, Amy J; Stoesser, Nicole; Chai, Weidong; Carroll, Joanne; Barry, Katie; Cherunvanky, Anita; Sebra, Robert; Kasarskis, Andrew; Peto, Tim E; Walker, A Sarah; Sifri, Costi D; Crook, Derrick W; Sheppard, Anna E

    2017-03-01

    Carbapenemase genes in Enterobacteriaceae are mostly described as being plasmid associated. However, the genetic context of carbapenemase genes is not always confirmed in epidemiological surveys, and the frequency of their chromosomal integration therefore is unknown. A previously sequenced collection of bla KPC -positive Enterobacteriaceae from a single U.S. institution (2007 to 2012; n = 281 isolates from 182 patients) was analyzed to identify chromosomal insertions of Tn 4401 , the transposon most frequently harboring bla KPC Using a combination of short- and long-read sequencing, we confirmed five independent chromosomal integration events from 6/182 (3%) patients, corresponding to 15/281 (5%) isolates. Three patients had isolates identified by perirectal screening, and three had infections which were all successfully treated. When a single copy of bla KPC was in the chromosome, one or both of the phenotypic carbapenemase tests were negative. All chromosomally integrated bla KPC genes were from Klebsiella spp., predominantly K. pneumoniae clonal group 258 (CG258), even though these represented only a small proportion of the isolates. Integration occurred via IS 15 -ΔI-mediated transposition of a larger, composite region encompassing Tn 4401 at one locus of chromosomal integration, seen in the same strain ( K. pneumoniae ST340) in two patients. In summary, we identified five independent chromosomal integrations of bla KPC in a large outbreak, demonstrating that this is not a rare event. bla KPC was more frequently integrated into the chromosome of epidemic CG258 K. pneumoniae lineages (ST11, ST258, and ST340) and was more difficult to detect by routine phenotypic methods in this context. The presence of chromosomally integrated bla KPC within successful, globally disseminated K. pneumoniae strains therefore is likely underestimated. Copyright © 2017 Mathers et al.

  9. Do Housekeeping Genes Exist?

    Science.gov (United States)

    Sun, Bingyun

    2015-01-01

    The searching of human housekeeping (HK) genes has been a long quest since the emergence of transcriptomics, and is instrumental for us to understand the structure of genome and the fundamentals of biological processes. The resolved genes are frequently used in evolution studies and as normalization standards in quantitative gene-expression analysis. Within the past 20 years, more than a dozen HK-gene studies have been conducted, yet none of them sampled human tissues completely. We believe an integration of these results will help remove false positive genes owing to the inadequate sampling. Surprisingly, we only find one common gene across 15 examined HK-gene datasets comprising 187 different tissue and cell types. Our subsequent analyses suggest that it might not be appropriate to rigidly define HK genes as expressed in all tissue types that have diverse developmental, physiological, and pathological states. It might be beneficial to use more robustly identified HK functions for filtering criteria, in which the representing genes can be a subset of genome. These genes are not necessarily the same, and perhaps need not to be the same, everywhere in our body. PMID:25970694

  10. Primetime for Learning Genes.

    Science.gov (United States)

    Keifer, Joyce

    2017-02-11

    Learning genes in mature neurons are uniquely suited to respond rapidly to specific environmental stimuli. Expression of individual learning genes, therefore, requires regulatory mechanisms that have the flexibility to respond with transcriptional activation or repression to select appropriate physiological and behavioral responses. Among the mechanisms that equip genes to respond adaptively are bivalent domains. These are specific histone modifications localized to gene promoters that are characteristic of both gene activation and repression, and have been studied primarily for developmental genes in embryonic stem cells. In this review, studies of the epigenetic regulation of learning genes in neurons, particularly the brain-derived neurotrophic factor gene ( BDNF ), by methylation/demethylation and chromatin modifications in the context of learning and memory will be highlighted. Because of the unique function of learning genes in the mature brain, it is proposed that bivalent domains are a characteristic feature of the chromatin landscape surrounding their promoters. This allows them to be "poised" for rapid response to activate or repress gene expression depending on environmental stimuli.

  11. Genes and Social Behavior

    OpenAIRE

    Robinson, Gene E.; Fernald, Russell D.; Clayton, David F.

    2008-01-01

    What specific genes and regulatory sequences contribute to the organization and functioning of brain circuits that support social behavior? How does social experience interact with information in the genome to modulate these brain circuits? Here we address these questions by highlighting progress that has been made in identifying and understanding two key “vectors of influence” that link genes, brain, and social behavior: 1) social information alters gene readout in the brain to influence beh...

  12. History of gene therapy.

    Science.gov (United States)

    Wirth, Thomas; Parker, Nigel; Ylä-Herttuala, Seppo

    2013-08-10

    Two decades after the initial gene therapy trials and more than 1700 approved clinical trials worldwide we not only have gained much new information and knowledge regarding gene therapy in general, but also learned to understand the concern that has persisted in society. Despite the setbacks gene therapy has faced, success stories have increasingly emerged. Examples for these are the positive recommendation for a gene therapy product (Glybera) by the EMA for approval in the European Union and the positive trials for the treatment of ADA deficiency, SCID-X1 and adrenoleukodystrophy. Nevertheless, our knowledge continues to grow and during the course of time more safety data has become available that helps us to develop better gene therapy approaches. Also, with the increased understanding of molecular medicine, we have been able to develop more specific and efficient gene transfer vectors which are now producing clinical results. In this review, we will take a historical view and highlight some of the milestones that had an important impact on the development of gene therapy. We will also discuss briefly the safety and ethical aspects of gene therapy and address some concerns that have been connected with gene therapy as an important therapeutic modality. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. Human housekeeping genes, revisited.

    Science.gov (United States)

    Eisenberg, Eli; Levanon, Erez Y

    2013-10-01

    Housekeeping genes are involved in basic cell maintenance and, therefore, are expected to maintain constant expression levels in all cells and conditions. Identification of these genes facilitates exposure of the underlying cellular infrastructure and increases understanding of various structural genomic features. In addition, housekeeping genes are instrumental for calibration in many biotechnological applications and genomic studies. Advances in our ability to measure RNA expression have resulted in a gradual increase in the number of identified housekeeping genes. Here, we describe housekeeping gene detection in the era of massive parallel sequencing and RNA-seq. We emphasize the importance of expression at a constant level and provide a list of 3804 human genes that are expressed uniformly across a panel of tissues. Several exceptionally uniform genes are singled out for future experimental use, such as RT-PCR control genes. Finally, we discuss both ways in which current technology can meet some of past obstacles encountered, and several as yet unmet challenges. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. Recombinant gene expression protocols

    National Research Council Canada - National Science Library

    Tuan, Rocky S

    1997-01-01

    .... A fundamental requirement for successful recombinant gene expression is the design of the cloning vector and the choice of the host organism for expression. Recombinant Gene Expression Protocols grows out of the need for a laboratory manual that provides the reader the background and rationale, as well as the practical protocols for the preparation of...

  15. One gene's shattering effects.

    Science.gov (United States)

    Olsen, Kenneth M

    2012-05-29

    A new study shows that three independent mutations in the Sh1 gene, which encodes a YABBY transcription factor, gave rise to the non-shattering seed phenotype in domesticated sorghum. This same gene may have also had a role in the domestication of other cereals, including maize and rice.

  16. Your Genes, Your Choices

    Science.gov (United States)

    Table of Contents Your Genes, Your Choices describes the Human Genome Project, the science behind it, and the ethical, legal, and social issues that are ... Nothing could be further from the truth. Your Genes, Your Choices points out how the progress of ...

  17. Radionuclide reporter gene imaging

    International Nuclear Information System (INIS)

    Min, Jung Joon

    2004-01-01

    Recent progress in the development of non-invasive imaging technologies continues to strengthen the role of molecular imaging biological research. These tools have been validated recently in variety of research models, and have been shown to provide continuous quantitative monitoring of the location(s), magnitude, and time-variation of gene expression. This article reviews the principles, characteristics, categories and the use of radionuclide reporter gene imaging technologies as they have been used in imaging cell trafficking, imaging gene therapy, imaging endogenous gene expression and imaging molecular interactions. The studies published to date demonstrate that reporter gene imaging technologies will help to accelerate model validation as well as allow for clinical monitoring of human diseases

  18. La difícil transposición didáctica. Un estudio comparativo de la construcción de estereotipos sociales desde la historiografía al aula (España-Francia (The difficult didactic transposition. A comparative study of the construction of social stereotypes from historiography to the classroom (Spain-France

    Directory of Open Access Journals (Sweden)

    Cosme J. Gómez Carrasco

    2017-12-01

    Full Text Available El objetivo de este trabajo es analizar la difícil transposición didáctica desde la historiografía al aula a través de una temática concreta: el mundo rural en la Edad Moderna en España y Francia. Para conseguir este objetivo se ha partido del estudio de la construcción historiográfica sobre el campesinado y el mundo rural en las principales revistas de investigación de esta temática. Posteriormente se ha comprobado la transmisión de este conocimiento en las aulas a través de las propuestas curriculares. Finalmente se ha analizado la percepción del alumnado sobre los estereotipos sociales ligados a esta temática. Los resultados muestran un desequilibrio importante entre la representación del mundo urbano y el mundo rural, fruto de la pervivencia de la teoría de la modernización en las explicaciones históricas. | The objective of this paper is to analyze the difficult didactic transposition from the historiography to the classroom through a concrete issue: the rural world in the Early Modern Age in Spain and France. To achieve this objective, this paper start with the study of the historiographical construction of the peasantry and the rural world in the most representative journals. Second it has been verified the transmission of this knowledge in the classrooms through the curricular proposals. Finally we have analyzed the student's perception of the social stereotypes related to this subject. The results show a significant imbalance between the representation of the urban world and the rural world, consequence of the survival of the theory of modernization in historical explanations.

  19. Estratégia cirúrgica na transposição das grandes artérias associada à obstrução do arco aórtico Surgical strategy in transposition of the great arteries with aortic arch obstruction

    Directory of Open Access Journals (Sweden)

    Bayard Gontijo Filho

    2007-06-01

    Full Text Available OBJETIVO: Analisar nossa experiência no tratamento cirúrgico da transposição das grandes artérias (TGA associada à obstrução do arco aórtico. MÉTODO: Entre janeiro de 1998 e dezembro de 2005, realizamos 223 operações de Jatene para correção de TGA: 21 (9,4% pacientes apresentavam obstruções do arco aórtico. A anatomia do arco aórtico evidenciou: coarctação da aorta localizada (n=10; coarctação com hipoplasia tubular do arco aórtico (n=6; interrupção do arco aórtico (n=5. Comunicação interventricular (CIV: 19 pacientes (90,5%, sendo 11 do tipo Taussig-Bing. Desproporção importante entre aorta e artéria pulmonar e anomalias coronárias foram achados freqüentes. Houve 7 correções em dois estágios e 14 correções em um único estágio. A reconstrução do arco foi realizada por ressecção e anastomose término-terminal ampliada (13 ou por translocação da aorta ascendente (8. RESULTADO: Houve cinco (23,8% óbitos hospitalares; apenas um (11,1% nos últimos nove casos consecutivos. Reoperações no período hospitalar: revisão de hemostasia (5, CIV residual + coarctação não identificada (1, estenose residual de arco aórtico (1. Após a alta, houve dois óbitos e três pacientes foram submetidos a reintervenções para estenose da via de saída do ventrículo direito. CONCLUSÃO: O tratamento da transposição das grandes artérias associada à obstrução do arco aórtico apresenta alta complexidade e morbi-mortalidade. Empregamos as correções em um e em dois estágios, obtendo resultados comparáveis. Nossa preferência atual é pela correção precoce em um único estágio para todos os pacientes, independente de sua configuração anatômica.OBJECTIVE:To analyze our experience in the surgical correction of transposition of the great arteries associated with aortic arch obstruction. METHOD: From January 1998 to December 2005 we performed 223 arterial switch operations for transposition of the great

  20. Third party annotation gene data set of eutherian lysozyme genes

    Directory of Open Access Journals (Sweden)

    Marko Premzl

    2014-12-01

    Full Text Available The eutherian comparative genomic analysis protocol annotated most comprehensive eutherian lysozyme gene data set. Among 209 potential coding sequences, the third party annotation gene data set of eutherian lysozyme genes included 116 complete coding sequences that first described seven major gene clusters. As one new framework of future experiments, the present integrated gene annotations, phylogenetic analysis and protein molecular evolution analysis proposed new classification and nomenclature of eutherian lysozyme genes.

  1. Gene amplification in carcinogenesis

    Directory of Open Access Journals (Sweden)

    Lucimari Bizari

    2006-01-01

    Full Text Available Gene amplification increases the number of genes in a genome and can give rise to karyotype abnormalities called double minutes (DM and homogeneously staining regions (HSR, both of which have been widely observed in human tumors but are also known to play a major role during embryonic development due to the fact that they are responsible for the programmed increase of gene expression. The etiology of gene amplification during carcinogenesis is not yet completely understood but can be considered a result of genetic instability. Gene amplification leads to an increase in protein expression and provides a selective advantage during cell growth. Oncogenes such as CCND1, c-MET, c-MYC, ERBB2, EGFR and MDM2 are amplified in human tumors and can be associated with increased expression of their respective proteins or not. In general, gene amplification is associated with more aggressive tumors, metastases, resistance to chemotherapy and a decrease in the period during which the patient stays free of the disease. This review discusses the major role of gene amplification in the progression of carcinomas, formation of genetic markers and as possible therapeutic targets for the development of drugs for the treatment of some types of tumors.

  2. Genes and hypertension.

    Science.gov (United States)

    Garcia, E A; Newhouse, S; Caulfield, M J; Munroe, P B

    2003-01-01

    The combination of investigation of rare Mendelian forms of hypertension, candidate gene studies, comparative mapping and genome-wide screening in both animal models and man has led to significant progress in determining new mechanisms of blood pressure control. In this review, the newly discovered blood pressure/cardiovascular genes, WNK kinases and angiotensin converting enzyme 2 and the development of a new anti-hypertensive agent PST2238 are discussed. Major genes causing essential hypertension have yet to be discovered, however, there are now over 20 published genome-wide screens for blood pressure controlling genes. Several regions demonstrate suggestive linkage to the trait and there is some overlap of regions between the different studies. It is hoped that new blood pressure genes will ultimately be discovered using this method. Pharmacogenetic studies in hypertension have only been initiated recently, some are described in this paper. Small studies upon single candidate genes, suggest that the contribution of genetics to the inter-individual variation in blood pressure response to anti-hypertensive therapy, is small, approximately 3-5%. Recently micro-arrays with multiple polymorphisms in multiple genes have been used. After accounting for the additive affects of multiple blood pressure loci, an individual's genetic profile appeared to explain up to 50% of the variation in blood pressure response to therapy. Knowledge of the genetic variants that cause hypertension and influence response to anti-hypertensive therapy will ultimately provide a greater understanding of the molecular mechanisms underlying blood pressure control.

  3. Antisense gene silencing

    DEFF Research Database (Denmark)

    Nielsen, Troels T; Nielsen, Jørgen E

    2013-01-01

    Since the first reports that double-stranded RNAs can efficiently silence gene expression in C. elegans, the technology of RNA interference (RNAi) has been intensively exploited as an experimental tool to study gene function. With the subsequent discovery that RNAi could also be applied...... to mammalian cells, the technology of RNAi expanded from being a valuable experimental tool to being an applicable method for gene-specific therapeutic regulation, and much effort has been put into further refinement of the technique. This review will focus on how RNAi has developed over the years and how...

  4. Rice Genomics: Gene discovery

    Indian Academy of Sciences (India)

    There is a need for discovering candidate genes( a lot of them all over the genome indeed ) and the unlimited allelic variation that can productively take over rice metabolism when cellular water content falls below threshold levels.

  5. Gene Expression Omnibus (GEO)

    Data.gov (United States)

    U.S. Department of Health & Human Services — Gene Expression Omnibus is a public functional genomics data repository supporting MIAME-compliant submissions of array- and sequence-based data. Tools are provided...

  6. Comparative mapping of DNA probes derived from the V{sub k} immunoglobulin gene regions on human and great ape chromosomes by fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, N.; Wienberg, J.; Ermert, K. [Universitaet Muenchen (Germany)] [and others

    1995-03-01

    Fluorescence in situ hybridization (FISH) of cosmid clones of human V{sub K} gene regions to human and primate chromosomes contributed to the dating of chromosome reorganizations in evolution. A clone from the K locus at 2p11-p12 (cos 106) hybridized to the assumed homologous chromosome bands in the chimpanzees Pan troglodytes (PTR) and P. paniscus (PPA), the Gorilla gorilla (GGO), and the orangutan Pongo Pygmaeus (PPY). Human and both chimpanzees differed from gorilla and orangutan by the mapping of cos 170, a clone derived from chromosome 2cen-q11.2; the transposition of this orphon to the other side of the centromere can, therefore, be dated after the human/chimpanzee and gorilla divergence. Hybridization to homologous bands was also found with a cosmid clone containing a V{sub K}I orphon located on chromosome 1 (cos 115, main signal at 1q31-q32), although the probe is not fully unique. Also, a clone derived from the orphon V{sub K} region on chromosome 22q11 (cos 121) hybridized to the homologous bands in the great apes. This indicates that the orphons on human chromosomes 1 and 22 had been translocated early in primate evolution. 18 refs., 2 figs.

  7. Radiosensitivity and genes

    International Nuclear Information System (INIS)

    Hu Qiyue; Lun Mingyue

    1995-07-01

    Reported effects of some oncogenes, tumour suppressor genes and DNA repair genes on sensitivity of cells to ionizing radiation are reviewed. The role of oncogenes in cellular response to irradiation is discussed, especially the extensively studied oncogenes such as the ras gene family. For tumour suppressor genes, mainly the p53, which is increasingly implicated as a gene affecting radiosensitivity, is reviewed. It is considered that there is a cell cycle checkpoint determinant which is postulated to be able to arrest the irradiated cells in G 1 phase to allow them to repair damage before they undergo DNA synthesis. So far there are six DNA repair genes which have been cloned in mammalian cells, but only one, XRCC1, appears to be involved in repair of human X-ray damage. XRCC1 can correct high sisterchromatid exchange levels when transferred into EM 9 cells, but its expression seems to have no correlation with radiosensitivity of human neck and head tumour cells. Radiosensitivity is an intricate issue which may involve many factors. A scheme of cellular reactions after exposure to irradiation is proposed to indicate a possible sequence of events initiated by ionizing radiation

  8. Evidence for homosexuality gene

    Energy Technology Data Exchange (ETDEWEB)

    Pool, R.

    1993-07-16

    A genetic analysis of 40 pairs of homosexual brothers has uncovered a region on the X chromosome that appears to contain a gene or genes for homosexuality. When analyzing the pedigrees of homosexual males, the researcheres found evidence that the trait has a higher likelihood of being passed through maternal genes. This led them to search the X chromosome for genes predisposing to homosexuality. The researchers examined the X chromosomes of pairs of homosexual brothers for regions of DNA that most or all had in common. Of the 40 sets of brothers, 33 shared a set of five markers in the q28 region of the long arm of the X chromosome. The linkage has a LOD score of 4.0, which translates into a 99.5% certainty that there is a gene or genes in this area that predispose males to homosexuality. The chief researcher warns, however, that this one site cannot explain all instances of homosexuality, since there were some cases where the trait seemed to be passed paternally. And even among those brothers where there was no evidence that the trait was passed paternally, seven sets of brothers did not share the Xq28 markers. It seems likely that homosexuality arises from a variety of causes.

  9. Gene-Gene and Gene-Environment Interactions in the Etiology of Breast Cancer

    National Research Council Canada - National Science Library

    Adegoke, Olufemi

    2003-01-01

    The objective of this CDA is to evaluate the gene-gene and gene-environment interactions in the etiology of breast cancer in two ongoing case-control studies, the Shanghai Breast Cancer Study (SBCS...

  10. Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

    Science.gov (United States)

    Oliver, Karen L; Lukic, Vesna; Thorne, Natalie P; Berkovic, Samuel F; Scheffer, Ingrid E; Bahlo, Melanie

    2014-01-01

    We apply a novel gene expression network analysis to a cohort of 182 recently reported candidate Epileptic Encephalopathy genes to identify those most likely to be true Epileptic Encephalopathy genes. These candidate genes were identified as having single variants of likely pathogenic significance discovered in a large-scale massively parallel sequencing study. Candidate Epileptic Encephalopathy genes were prioritized according to their co-expression with 29 known Epileptic Encephalopathy genes. We utilized developing brain and adult brain gene expression data from the Allen Human Brain Atlas (AHBA) and compared this to data from Celsius: a large, heterogeneous gene expression data warehouse. We show replicable prioritization results using these three independent gene expression resources, two of which are brain-specific, with small sample size, and the third derived from a heterogeneous collection of tissues with large sample size. Of the nineteen genes that we predicted with the highest likelihood to be true Epileptic Encephalopathy genes, two (GNAO1 and GRIN2B) have recently been independently reported and confirmed. We compare our results to those produced by an established in silico prioritization approach called Endeavour, and finally present gene expression networks for the known and candidate Epileptic Encephalopathy genes. This highlights sub-networks of gene expression, particularly in the network derived from the adult AHBA gene expression dataset. These networks give clues to the likely biological interactions between Epileptic Encephalopathy genes, potentially highlighting underlying mechanisms and avenues for therapeutic targets.

  11. Heritable gene expression differences between apomictic clone members in Taraxacum officinale: Insights into early stages of evolutionary divergence in asexual plants.

    Science.gov (United States)

    Ferreira de Carvalho, Julie; Oplaat, Carla; Pappas, Nikolaos; Derks, Martijn; de Ridder, Dick; Verhoeven, Koen J F

    2016-03-08

    Asexual reproduction has the potential to enhance deleterious mutation accumulation and to constrain adaptive evolution. One source of mutations that can be especially relevant in recent asexuals is activity of transposable elements (TEs), which may have experienced selection for high transposition rates in sexual ancestor populations. Predictions of genomic divergence under asexual reproduction therefore likely include a large contribution of transposable elements but limited adaptive divergence. For plants empirical insight into genome divergence under asexual reproduction remains limited. Here, we characterize expression divergence between clone members of a single apomictic lineage of the common dandelion (Taraxacum officinale) to contribute to our knowledge of genome evolution under asexuality. Using RNA-Seq, we show that about one third of heritable divergence within the apomictic lineage is driven by TEs and TE-related gene activity. In addition, we identify non-random transcriptional differences in pathways related to acyl-lipid and abscisic acid metabolisms which might reflect functional divergence within the apomictic lineage. We analyze SNPs in the transcriptome to assess genetic divergence between the apomictic clone members and reveal that heritable expression differences between the accessions are not explained simply by genome-wide genetic divergence. The present study depicts a first effort towards a more complete understanding of apomictic plant genome evolution. We identify abundant TE activity and ecologically relevant functional genes and pathways affecting heritable within-lineage expression divergence. These findings offer valuable resources for future work looking at epigenetic silencing and Cis-regulation of gene expression with particular emphasis on the effects of TE activity on asexual species' genome.

  12. Third party annotation gene data set of eutherian lysozyme genes

    OpenAIRE

    Premzl, Marko

    2014-01-01

    The eutherian comparative genomic analysis protocol annotated most comprehensive eutherian lysozyme gene data set. Among 209 potential coding sequences, the third party annotation gene data set of eutherian lysozyme genes included 116 complete coding sequences that first described seven major gene clusters. As one new framework of future experiments, the present integrated gene annotations, phylogenetic analysis and protein molecular evolution analysis proposed new classification and nomencla...

  13. Gene therapy prospects--intranasal delivery of therapeutic genes.

    Science.gov (United States)

    Podolska, Karolina; Stachurska, Anna; Hajdukiewicz, Karolina; Małecki, Maciej

    2012-01-01

    Gene therapy is recognized to be a novel method for the treatment of various disorders. Gene therapy strategies involve gene manipulation on broad biological processes responsible for the spreading of diseases. Cancer, monogenic diseases, vascular and infectious diseases are the main targets of gene therapy. In order to obtain valuable experimental and clinical results, sufficient gene transfer methods are required. Therapeutic genes can be administered into target tissues via gene carriers commonly defined as vectors. The retroviral, adenoviral and adeno-associated virus based vectors are most frequently used in the clinic. So far, gene preparations may be administered directly into target organs or by intravenous, intramuscular, intratumor or intranasal injections. It is common knowledge that the number of gene therapy clinical trials has rapidly increased. However, some limitations such as transfection efficiency and stable and long-term gene expression are still not resolved. Consequently, great effort is focused on the evaluation of new strategies of gene delivery. There are many expectations associated with intranasal delivery of gene preparations for the treatment of diseases. Intranasal delivery of therapeutic genes is regarded as one of the most promising forms of pulmonary gene therapy research. Gene therapy based on inhalation of gene preparations offers an alternative way for the treatment of patients suffering from such lung diseases as cystic fibrosis, alpha-1-antitrypsin defect, or cancer. Experimental and first clinical trials based on plasmid vectors or recombinant viruses have revealed that gene preparations can effectively deliver therapeutic or marker genes to the cells of the respiratory tract. The noninvasive intranasal delivery of gene preparations or conventional drugs seems to be very encouraging, although basic scientific research still has to continue.

  14. Radionuclide reporter gene imaging for cardiac gene therapy

    International Nuclear Information System (INIS)

    Inubushi, Masayuki; Tamaki, Nagara

    2007-01-01

    In the field of cardiac gene therapy, angiogenic gene therapy has been most extensively investigated. The first clinical trial of cardiac angiogenic gene therapy was reported in 1998, and at the peak, more than 20 clinical trial protocols were under evaluation. However, most trials have ceased owing to the lack of decisive proof of therapeutic effects and the potential risks of viral vectors. In order to further advance cardiac angiogenic gene therapy, remaining open issues need to be resolved: there needs to be improvement of gene transfer methods, regulation of gene expression, development of much safer vectors and optimisation of therapeutic genes. For these purposes, imaging of gene expression in living organisms is of great importance. In radionuclide reporter gene imaging, ''reporter genes'' transferred into cell nuclei encode for a protein that retains a complementary ''reporter probe'' of a positron or single-photon emitter; thus expression of the reporter genes can be imaged with positron emission tomography or single-photon emission computed tomography. Accordingly, in the setting of gene therapy, the location, magnitude and duration of the therapeutic gene co-expression with the reporter genes can be monitored non-invasively. In the near future, gene therapy may evolve into combination therapy with stem/progenitor cell transplantation, so-called cell-based gene therapy or gene-modified cell therapy. Radionuclide reporter gene imaging is now expected to contribute in providing evidence on the usefulness of this novel therapeutic approach, as well as in investigating the molecular mechanisms underlying neovascularisation and safety issues relevant to further progress in conventional gene therapy. (orig.)

  15. [Gene therapy in cardiology].

    Science.gov (United States)

    Jay, David

    2002-01-01

    The modification of genetic material of living cells for therapeutic purposes have been regarded by many as an unrealized promise. However, recent successful achievements in the field have contributed to vanish this perception and have reopened the possibility to use gene therapy as a medical intervention in humans. In the case of cardiovascular diseases, and despite its high prevalence, the number of approved human gene therapy protocols has remained low. This may be due, at least in part, to the availability of effective alternative therapies for some of the most common vasculopathies. However, recent advances in the understanding of the genetic and molecular bases of the cardiovascular system have opened the possibility to introduce gene therapy in the management of a great variety of cardiovascular disorders. The purpose of this communication is to briefly summarize the progress in this area.

  16. Gene decay in archaea

    Directory of Open Access Journals (Sweden)

    M. W. J. van Passel

    2007-01-01

    Full Text Available The gene-dense chromosomes of archaea and bacteria were long thought to be devoid of pseudogenes, but with the massive increase in available genome sequences, whole genome comparisons between closely related species have identified mutations that have rendered numerous genes inactive. Comparative analyses of sequenced archaeal genomes revealed numerous pseudogenes, which can constitute up to 8.6% of the annotated coding sequences in some genomes. The largest proportion of pseudogenes is created by gene truncations, followed by frameshift mutations. Within archaeal genomes, large numbers of pseudogenes contain more than one inactivating mutation, suggesting that pseudogenes are deleted from the genome more slowly in archaea than in bacteria. Although archaea seem to retain pseudogenes longer than do bacteria, most archaeal genomes have unique repertoires of pseudogenes.

  17. Neighboring Genes Show Correlated Evolution in Gene Expression

    Science.gov (United States)

    Ghanbarian, Avazeh T.; Hurst, Laurence D.

    2015-01-01

    When considering the evolution of a gene’s expression profile, we commonly assume that this is unaffected by its genomic neighborhood. This is, however, in contrast to what we know about the lack of autonomy between neighboring genes in gene expression profiles in extant taxa. Indeed, in all eukaryotic genomes genes of similar expression-profile tend to cluster, reflecting chromatin level dynamics. Does it follow that if a gene increases expression in a particular lineage then the genomic neighbors will also increase in their expression or is gene expression evolution autonomous? To address this here we consider evolution of human gene expression since the human-chimp common ancestor, allowing for both variation in estimation of current expression level and error in Bayesian estimation of the ancestral state. We find that in all tissues and both sexes, the change in gene expression of a focal gene on average predicts the change in gene expression of neighbors. The effect is highly pronounced in the immediate vicinity (genes increasing their expression in humans tend to avoid nuclear lamina domains and be enriched for the gene activator 5-hydroxymethylcytosine, we conclude that, most probably owing to chromatin level control of gene expression, a change in gene expression of one gene likely affects the expression evolution of neighbors, what we term expression piggybacking, an analog of hitchhiking. PMID:25743543

  18. Inferring horizontal gene transfer.

    Directory of Open Access Journals (Sweden)

    Matt Ravenhall

    2015-05-01

    Full Text Available Horizontal or Lateral Gene Transfer (HGT or LGT is the transmission of portions of genomic DNA between organisms through a process decoupled from vertical inheritance. In the presence of HGT events, different fragments of the genome are the result of different evolutionary histories. This can therefore complicate the investigations of evolutionary relatedness of lineages and species. Also, as HGT can bring into genomes radically different genotypes from distant lineages, or even new genes bearing new functions, it is a major source of phenotypic innovation and a mechanism of niche adaptation. For example, of particular relevance to human health is the lateral transfer of antibiotic resistance and pathogenicity determinants, leading to the emergence of pathogenic lineages. Computational identification of HGT events relies upon the investigation of sequence composition or evolutionary history of genes. Sequence composition-based ("parametric" methods search for deviations from the genomic average, whereas evolutionary history-based ("phylogenetic" approaches identify genes whose evolutionary history significantly differs from that of the host species. The evaluation and benchmarking of HGT inference methods typically rely upon simulated genomes, for which the true history is known. On real data, different methods tend to infer different HGT events, and as a result it can be difficult to ascertain all but simple and clear-cut HGT events.

  19. Genes in mammalian reproduction

    Energy Technology Data Exchange (ETDEWEB)

    Gwatkin, R.B.L. [ed.

    1996-11-01

    This is an informative book which deals mainly with genomic imprinting, the role of steroid hormones in development, the expression of a variety of genes during development and the link to hereditary diseases. It is an up-to-date review in a field that is quickly changing and provides valuable basic information and current research trends.

  20. Are there anxious genes?

    Science.gov (United States)

    Morris-Rosendahl, Deborah J.

    2002-01-01

    Anxiety comprises many clinical descriptions and phenotypes. A genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. Methods for the genetic analysis of such complex disorders is briefly reviewed, followed by a discussion of the comorbidity of anxiety with other psychiatric disorders and their possible common genetic etiology. Extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-HT) transporter (5-HTT) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. Complete genome-wide linkage scans for panic disorder (PD) susceptibility genes have suggested a locus on chromosome arm 7p, and association studies have highlighted many candidate genes. A highly significant association between phobias, panic disorder, and a duplication at chromosomal region 15q24-26 is one of the most exciting findings to date. Emerging molecular genetic technologies and the use of increasingly sophisticated animal models of anxiety provide great promise for the future of the field. PMID:22033820

  1. Silence of the Genes

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 12; Issue 4. Silence of the Genes - 2006 Nobel Prize in Physiology or Medicine. Utpal Nath Saumitra Das. General Article Volume 12 Issue 4 April 2007 pp 6-18. Fulltext. Click here to view fulltext PDF. Permanent link:

  2. Searching for speciation genes

    DEFF Research Database (Denmark)

    Holt, Benjamin George; Côté, Isabelle M; Emerson, Brent C

    2011-01-01

    Closely related species that show clear phenotypic divergence, but without obvious geographic barriers, can provide opportunities to study how diversification can occur when opportunities for allopatric speciation are limited. We examined genetic divergence in the coral reef fish genus Hypoplectr...... evidence for genes that may be associated with colour morphotype in the genus Hypoplectrus....

  3. How Genes Evolve

    Indian Academy of Sciences (India)

    Haemoglobin is a well known respiratory pigment which transports oxygen to various tissues of the body. Tetrameric haemoglo bin (Hb) molecules consist of two .... production of a tetramer that was more effective in oxygen transport and release as compared to the ancestral monomeric form of haemoglobin. Further, gene ...

  4. pyrophosphatase gene in rye

    Indian Academy of Sciences (India)

    photoperiod. Leaves, stems and roots were collected sepa- rately at 6-h intervals from the start (0 h) to the end (72 h) of each experiment. Each treatment was conducted in triplicate. All samples were immediately frozen in liquid nitrogen and were stored at −80. ◦. C until being used for analysis. Isolation of the ScHP1 gene.

  5. Hidden genes in birds

    Czech Academy of Sciences Publication Activity Database

    Hron, Tomáš; Pajer, Petr; Pačes, Jan; Bartůněk, Petr; Elleder, Daniel

    2015-01-01

    Roč. 16, August 18 (2015) ISSN 1465-6906 R&D Projects: GA MŠk(CZ) LK11215; GA MŠk LO1419 Grant - others:GA MŠk(CZ) LM2010005 Institutional support: RVO:68378050 Keywords : REPETITIVE SEQUENCES * G/C stretches * avian genes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 11.313, year: 2015

  6. What is a Gene?

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 2; Issue 4. What is a Gene? A Question With Variable Answers. S C Lakhotia. General Article Volume 2 Issue 4 April 1997 pp 38-47. Fulltext. Click here to view fulltext PDF. Permanent link: http://www.ias.ac.in/article/fulltext/reso/002/04/0038-0047 ...

  7. What is a Gene?

    Indian Academy of Sciences (India)

    certain supra-genic aspects of biological information that we inherit through the generations and has a profound role in gene activity. Our understanding of the structure and organization of the genetic material has greatly increased in recent years: we have deciphered the total DNA base sequence of genomes of some.

  8. Suicide genes or p53 gene and p53 target genes as targets for cancer gene therapy by ionizing radiation

    International Nuclear Information System (INIS)

    Liu Bing; Chinese Academy of Sciences, Beijing; Zhang Hong

    2005-01-01

    Radiotherapy has some disadvantages due to the severe side-effect on the normal tissues at a curative dose of ionizing radiation (IR). Similarly, as a new developing approach, gene therapy also has some disadvantages, such as lack of specificity for tumors, limited expression of therapeutic gene, potential biological risk. To certain extent, above problems would be solved by the suicide genes or p53 gene and its target genes therapies targeted by ionizing radiation. This strategy not only makes up the disadvantage from radiotherapy or gene therapy alone, but also promotes success rate on the base of lower dose. By present, there have been several vectors measuring up to be reaching clinical trials. This review focused on the development of the cancer gene therapy through suicide genes or p53 and its target genes mediated by IR. (authors)

  9. Genes2FANs: connecting genes through functional association networks

    Science.gov (United States)

    2012-01-01

    Background Protein-protein, cell signaling, metabolic, and transcriptional interaction networks are useful for identifying connections between lists of experimentally identified genes/proteins. However, besides physical or co-expression interactions there are many ways in which pairs of genes, or their protein products, can be associated. By systematically incorporating knowledge on shared properties of genes from diverse sources to build functional association networks (FANs), researchers may be able to identify additional functional interactions between groups of genes that are not readily apparent. Results Genes2FANs is a web based tool and a database that utilizes 14 carefully constructed FANs and a large-scale protein-protein interaction (PPI) network to build subnetworks that connect lists of human and mouse genes. The FANs are created from mammalian gene set libraries where mouse genes are converted to their human orthologs. The tool takes as input a list of human or mouse Entrez gene symbols to produce a subnetwork and a ranked list of intermediate genes that are used to connect the query input list. In addition, users can enter any PubMed search term and then the system automatically converts the returned results to gene lists using GeneRIF. This gene list is then used as input to generate a subnetwork from the user’s PubMed query. As a case study, we applied Genes2FANs to connect disease genes from 90 well-studied disorders. We find an inverse correlation between the counts of links connecting disease genes through PPI and links connecting diseases genes through FANs, separating diseases into two categories. Conclusions Genes2FANs is a useful tool for interpreting the relationships between gene/protein lists in the context of their various functions and networks. Combining functional association interactions with physical PPIs can be useful for revealing new biology and help form hypotheses for further experimentation. Our finding that disease genes in

  10. Industrial scale gene synthesis.

    Science.gov (United States)

    Notka, Frank; Liss, Michael; Wagner, Ralf

    2011-01-01

    The most recent developments in the area of deep DNA sequencing and downstream quantitative and functional analysis are rapidly adding a new dimension to understanding biochemical pathways and metabolic interdependencies. These increasing insights pave the way to designing new strategies that address public needs, including environmental applications and therapeutic inventions, or novel cell factories for sustainable and reconcilable energy or chemicals sources. Adding yet another level is building upon nonnaturally occurring networks and pathways. Recent developments in synthetic biology have created economic and reliable options for designing and synthesizing genes, operons, and eventually complete genomes. Meanwhile, high-throughput design and synthesis of extremely comprehensive DNA sequences have evolved into an enabling technology already indispensable in various life science sectors today. Here, we describe the industrial perspective of modern gene synthesis and its relationship with synthetic biology. Gene synthesis contributed significantly to the emergence of synthetic biology by not only providing the genetic material in high quality and quantity but also enabling its assembly, according to engineering design principles, in a standardized format. Synthetic biology on the other hand, added the need for assembling complex circuits and large complexes, thus fostering the development of appropriate methods and expanding the scope of applications. Synthetic biology has also stimulated interdisciplinary collaboration as well as integration of the broader public by addressing socioeconomic, philosophical, ethical, political, and legal opportunities and concerns. The demand-driven technological achievements of gene synthesis and the implemented processes are exemplified by an industrial setting of large-scale gene synthesis, describing production from order to delivery. Copyright © 2011 Elsevier Inc. All rights reserved.

  11. Genes contributing to prion pathogenesis

    DEFF Research Database (Denmark)

    Tamgüney, Gültekin; Giles, Kurt; Glidden, David V

    2008-01-01

    incubation times, indicating that the conversion reaction may be influenced by other gene products. To identify genes that contribute to prion pathogenesis, we analysed incubation times of prions in mice in which the gene product was inactivated, knocked out or overexpressed. We tested 20 candidate genes...... show that many genes previously implicated in prion replication have no discernible effect on the pathogenesis of prion disease. While most genes tested did not significantly affect survival times, ablation of the amyloid beta (A4) precursor protein (App) or interleukin-1 receptor, type I (Il1r1...

  12. Patenting human genes: Chinese academic articles' portrayal of gene patents.

    Science.gov (United States)

    Du, Li

    2018-04-24

    The patenting of human genes has been the subject of debate for decades. While China has gradually come to play an important role in the global genomics-based testing and treatment market, little is known about Chinese scholars' perspectives on patent protection for human genes. A content analysis of academic literature was conducted to identify Chinese scholars' concerns regarding gene patents, including benefits and risks of patenting human genes, attitudes that researchers hold towards gene patenting, and any legal and policy recommendations offered for the gene patent regime in China. 57.2% of articles were written by law professors, but scholars from health sciences, liberal arts, and ethics also participated in discussions on gene patent issues. While discussions of benefits and risks were relatively balanced in the articles, 63.5% of the articles favored gene patenting in general and, of the articles (n = 41) that explored gene patents in the Chinese context, 90.2% supported patent protections for human genes in China. The patentability of human genes was discussed in 33 articles, and 75.8% of these articles reached the conclusion that human genes are patentable. Chinese scholars view the patent regime as an important legal tool to protect the interests of inventors and inventions as well as the genetic resources of China. As such, many scholars support a gene patent system in China. These attitudes towards gene patents remain unchanged following the court ruling in the Myriad case in 2013, but arguments have been raised about the scope of gene patents, in particular that the increasing numbers of gene patents may negatively impact public health in China.

  13. Gene set analysis for longitudinal gene expression data

    Directory of Open Access Journals (Sweden)

    Piepho Hans-Peter

    2011-07-01

    Full Text Available Abstract Background Gene set analysis (GSA has become a successful tool to interpret gene expression profiles in terms of biological functions, molecular pathways, or genomic locations. GSA performs statistical tests for independent microarray samples at the level of gene sets rather than individual genes. Nowadays, an increasing number of microarray studies are conducted to explore the dynamic changes of gene expression in a variety of species and biological scenarios. In these longitudinal studies, gene expression is repeatedly measured over time such that a GSA needs to take into account the within-gene correlations in addition to possible between-gene correlations. Results We provide a robust nonparametric approach to compare the expressions of longitudinally measured sets of genes under multiple treatments or experimental conditions. The limiting distributions of our statistics are derived when the number of genes goes to infinity while the number of replications can be small. When the number of genes in a gene set is small, we recommend permutation tests based on our nonparametric test statistics to achieve reliable type I error and better power while incorporating unknown correlations between and within-genes. Simulation results demonstrate that the proposed method has a greater power than other methods for various data distributions and heteroscedastic correlation structures. This method was used for an IL-2 stimulation study and significantly altered gene sets were identified. Conclusions The simulation study and the real data application showed that the proposed gene set analysis provides a promising tool for longitudinal microarray analysis. R scripts for simulating longitudinal data and calculating the nonparametric statistics are posted on the North Dakota INBRE website http://ndinbre.org/programs/bioinformatics.php. Raw microarray data is available in Gene Expression Omnibus (National Center for Biotechnology Information with

  14. Optimal Reference Genes for Gene Expression Normalization in Trichomonas vaginalis.

    Science.gov (United States)

    dos Santos, Odelta; de Vargas Rigo, Graziela; Frasson, Amanda Piccoli; Macedo, Alexandre José; Tasca, Tiana

    2015-01-01

    Trichomonas vaginalis is the etiologic agent of trichomonosis, the most common non-viral sexually transmitted disease worldwide. This infection is associated with several health consequences, including cervical and prostate cancers and HIV acquisition. Gene expression analysis has been facilitated because of available genome sequences and large-scale transcriptomes in T. vaginalis, particularly using quantitative real-time polymerase chain reaction (qRT-PCR), one of the most used methods for molecular studies. Reference genes for normalization are crucial to ensure the accuracy of this method. However, to the best of our knowledge, a systematic validation of reference genes has not been performed for T. vaginalis. In this study, the transcripts of nine candidate reference genes were quantified using qRT-PCR under different cultivation conditions, and the stability of these genes was compared using the geNorm and NormFinder algorithms. The most stable reference genes were α-tubulin, actin and DNATopII, and, conversely, the widely used T. vaginalis reference genes GAPDH and β-tubulin were less stable. The PFOR gene was used to validate the reliability of the use of these candidate reference genes. As expected, the PFOR gene was upregulated when the trophozoites were cultivated with ferrous ammonium sulfate when the DNATopII, α-tubulin and actin genes were used as normalizing gene. By contrast, the PFOR gene was downregulated when the GAPDH gene was used as an internal control, leading to misinterpretation of the data. These results provide an important starting point for reference gene selection and gene expression analysis with qRT-PCR studies of T. vaginalis.

  15. Optimal Reference Genes for Gene Expression Normalization in Trichomonas vaginalis.

    Directory of Open Access Journals (Sweden)

    Odelta dos Santos

    Full Text Available Trichomonas vaginalis is the etiologic agent of trichomonosis, the most common non-viral sexually transmitted disease worldwide. This infection is associated with several health consequences, including cervical and prostate cancers and HIV acquisition. Gene expression analysis has been facilitated because of available genome sequences and large-scale transcriptomes in T. vaginalis, particularly using quantitative real-time polymerase chain reaction (qRT-PCR, one of the most used methods for molecular studies. Reference genes for normalization are crucial to ensure the accuracy of this method. However, to the best of our knowledge, a systematic validation of reference genes has not been performed for T. vaginalis. In this study, the transcripts of nine candidate reference genes were quantified using qRT-PCR under different cultivation conditions, and the stability of these genes was compared using the geNorm and NormFinder algorithms. The most stable reference genes were α-tubulin, actin and DNATopII, and, conversely, the widely used T. vaginalis reference genes GAPDH and β-tubulin were less stable. The PFOR gene was used to validate the reliability of the use of these candidate reference genes. As expected, the PFOR gene was upregulated when the trophozoites were cultivated with ferrous ammonium sulfate when the DNATopII, α-tubulin and actin genes were used as normalizing gene. By contrast, the PFOR gene was downregulated when the GAPDH gene was used as an internal control, leading to misinterpretation of the data. These results provide an important starting point for reference gene selection and gene expression analysis with qRT-PCR studies of T. vaginalis.

  16. Analysis of phage Mu DNA transposition by whole-genome ...

    Indian Academy of Sciences (India)

    ybaL down. ORF b0599. ybdH up. ORF b0621. dcuC. 1GI. FRO pu b0634. mrdB down. ORF b0709. dtpD up. ORF b0717. ybgP up. ORF. S b0723. sdhA up. ORF b0724. sdhB up. ORF b0726. sucA up. ORF b0730. mngR up. ORF b0750. nadA. FRO. S. FRO pu b0763. modA up. ORF b0879. macB. FRO. FRO pu b0887. cydD.

  17. Analysis of phage Mu DNA transposition by whole-genome ...

    Indian Academy of Sciences (India)

    labelled ChIP DNA and Cy3-labelled whole-genome DNA, both amplified by random primers. The 'ratio' value of each probe (fluorescence intensity of Cy5 over Cy3) is the relative enrichment of that probe sequence in the ChIP sample, referred to as the relative MuB binding preference, or BBP. A scatter plot of log2 BBP ...

  18. Predictors of Complications After Pectoralis Major Transposition for Sternum Dehiscence

    NARCIS (Netherlands)

    Molenkamp, Sanne; Waterbolk, Tjalling W.; Mariani, Massimo A.; Werker, Paul M. N.

    Objectives: Mediastinitis and sternumdehiscence are serious complications after open heart surgery, causing an increase in hospital stay, utilization of health care resources, and mortality. The defect that results after sternal wound debridement frequently necessitates tissue-flap coverage, for

  19. Omental pedicle transposition and suture repair of peripheral nerve ...

    African Journals Online (AJOL)

    The peripheral nervous system is able to regenerate after injury. Etiologies of injuries include penetrating injury, crush, traction, and ischemia compression. However, the presence of various nerve injury treatments such as coaptation and another technique to attain functional nerve regeneration are still inadequate.

  20. Transposition of Noise Type Test Data for Tracks and Vehicles

    NARCIS (Netherlands)

    Jansen, H.W.; Dittrich, M.G.; Squicciarini, G.; Thompson, D.J.; Betgen, B.

    2015-01-01

    New railway vehicles in Europe have to comply with noise limits as defined in the Technical Specification for Interoperability (TSI). The pass-by test has to be carried out at a site that fulfills the TSI requirements. The need has arisen to be able to perform TSI pass-by type testing at

  1. Transposition of Noise Type Test Data for Tracks and Vehicles

    NARCIS (Netherlands)

    Jansen, H.W.; Dittrich, M.G.; Squicciarini, S.; Thompson D.J.; Betgen, B.

    2013-01-01

    New railway vehicles in Europe have to comply with noise limits as defined in the Technical Specification for Interoperability (TSI). The pass-by test has to be carried out at a site that fulfills with TSI requirements. The need has arisen to be able to perform TSI pass-by type testing at

  2. Transposon display supports transpositional activity of P elements in ...

    Indian Academy of Sciences (India)

    Amparo `a Pesquisa do Estado de S˜ao Paulo (FAPESP - Brazil) research grants nos. 03/12545-0 to C. M. A. C. and 04/02851-. 9 to M.A.V.S. F.R.L. was recipient of a FAPESP fellowship. (03/12740-7). References. Almeida L. M., Langeani F. and Carareto C. M. A. 2003 Geographic polymorphism of P element populations of ...

  3. Transposon display supports transpositional activity of P elements in ...

    Indian Academy of Sciences (India)

    P elements in species of the saltans group of Drosophila. J. Genet. 86, 37–43] .... Strains of D. sturtevanti and D. saltans used in this study, with geographic origins and dates of the collections. Species. Strain. Location. Date. D. sturtevanti. Stu Mexico .... quickly cooled on ice to denature the DNA chains. The gel was run ...

  4. The use of transpositional mutagenesis to study bacterial virulence

    Energy Technology Data Exchange (ETDEWEB)

    Mousa, M.A.B.

    1989-01-01

    Extracellular protease of A. hydrophila was shown to be lethal factor for fish. Protease deficient mutants were obtained from A. hydrophila strain 79. A. hydrophila was mutagenized by inserting Tn10 (tetracycline resistance factor) into the chromosome. This was achieved by conjugation between A. hydrophila and E. coli which contains Tn10 carried on the suicide vector pRK2013. Virulence of the protease deficient mutants was determined by injecting into channel catfish and comparing the mortalities produced by the mutants to that produced by the wild type strain. Protease deficient isolates were non virulent when inoculated into channel catfish (compared to the wild type strain). Proteolytic activities of some protease deficient isolates were compared to the activities of the wild type strain using a quantitative plate technique. The following substrates were used to study the proteolytic activities: casein, gelatin, elastin, staphylococcus and klebsiella. Loss of the proteolytic activity of caseinase, gelatinase and elastase was associated with the loss of virulence of A. hydrophila. Acquiring the DNA from the media was studied using a new transformation technique; no artificial competence was provided. A strain of Escherchi coli, Edwardsiella ictaluri, and Aeromonas hydrophila acquired antibiotic resistance markers when they were grown on media containing the target antibiotic and the resistance markers. When homologous and heterologous {sup 32}P-labelled DNA were supplied to growing cultures of A. hydrophila, A. hydrophila cells and their chromosomes were found labelled. Total cellular radioactivity of the culture receiving heterologous labelled DNA was higher than the culture receiving homologous DNA; however the chromosomal radioactivity was on the opposite where it was higher in case of the culture receiving homologous DNA.

  5. Transposition of Knowledge: Encountering Proportionality in an Algebra Task

    Science.gov (United States)

    Lundberg, Anna. L. V.; Kilhamn, Cecilia

    2018-01-01

    This article reports on an analysis of the process in which "knowledge to be taught" was transposed into "knowledge actually taught," concerning a task including proportional relationships in an algebra setting in a grade 6 classroom. We identified affordances and constraints of the task by describing the mathematical…

  6. Migration and Adult Language Learning: Global Flows and Local Transpositions

    Science.gov (United States)

    Burns, Anne; Roberts, Celia

    2010-01-01

    In the 21st century, global flows politically, socially, economically, and environmentally are creating widespread movements of people around the world and giving rise to increased resettlements of immigrants and refugees internationally. The reality in most countries worldwide is that contemporary populations are multifaceted, multicultural,…

  7. Omental pedicle transposition and suture repair of peripheral nerve ...

    African Journals Online (AJOL)

    Abu wael

    immediately under a dissecting microscope (Kruss, Germany). Six equidistant epineurial simple interrupted sutures were ... strong, and muscle mass atrophy graded as severe, moderate, mild or normal. Sensory functions evaluation .... could secrete analgesic substances such as opioids, neurotransmitters including gamma ...

  8. Analysis of phage Mu DNA transposition by whole-genome ...

    Indian Academy of Sciences (India)

    ORF b1947. fliO up. ORF b1948. fliP up. ORF b1960 vsr up. ORF b1980. yeeL_1 down. ORF b1981. shiA down. ORF b1982 amn down. ORF b1990. erfK down. ORF. S b1991. cobT down. ORF b1992. cobS down. ORF b2035 rfc up. ORF b2036 glf up. ORF b2077. mdtD up. ORF b2137. yohF up. ORF b2138. mdtQ up. ORF.

  9. Palliation for transposition of great arteries | Adegboye | Nigerian ...

    African Journals Online (AJOL)

    Method: Patients with the diagnosis of TGA were evaluated for morphological type. The choice of palliative procedure was made in some of the patients with morphological type in mind. ... All patients had delayed wound healing. Conclusion: Appropriate and timely palliative surgery has a place in patients with TGA as an ...

  10. Omental flap transposition for inferior vena cava filter penetration

    Directory of Open Access Journals (Sweden)

    Junji Yamaguchi, MD

    2017-03-01

    Full Text Available A 40-year-old woman presented with uterine malignancy, deep vein thrombosis, and nonmassive pulmonary embolism in both lungs. Gunter-tulip filter was inserted, because she had severe genital bleeding, which is one of the contraindications to anticoagulation therapy. Total hysterectomy was conducted and anticoagulation therapy was started afterward. The thrombus worsened perioperatively, and the filter could not be retrieved. Since there was lymph node recurrence, the second time operation was performed. During operation, the struts were found to be penetrating the inferior vena cava. Omental flap was used to cover the struts, and no associated complications occurred after operation.

  11. The use of transpositional mutagenesis to study bacterial virulence

    International Nuclear Information System (INIS)

    Mousa, M.A.B.

    1989-01-01

    Extracellular protease of A. hydrophila was shown to be lethal factor for fish. Protease deficient mutants were obtained from A. hydrophila strain 79. A. hydrophila was mutagenized by inserting Tn10 (tetracycline resistance factor) into the chromosome. This was achieved by conjugation between A. hydrophila and E. coli which contains Tn10 carried on the suicide vector pRK2013. Virulence of the protease deficient mutants was determined by injecting into channel catfish and comparing the mortalities produced by the mutants to that produced by the wild type strain. Protease deficient isolates were non virulent when inoculated into channel catfish (compared to the wild type strain). Proteolytic activities of some protease deficient isolates were compared to the activities of the wild type strain using a quantitative plate technique. The following substrates were used to study the proteolytic activities: casein, gelatin, elastin, staphylococcus and klebsiella. Loss of the proteolytic activity of caseinase, gelatinase and elastase was associated with the loss of virulence of A. hydrophila. Acquiring the DNA from the media was studied using a new transformation technique; no artificial competence was provided. A strain of Escherchi coli, Edwardsiella ictaluri, and Aeromonas hydrophila acquired antibiotic resistance markers when they were grown on media containing the target antibiotic and the resistance markers. When homologous and heterologous 32 P-labelled DNA were supplied to growing cultures of A. hydrophila, A. hydrophila cells and their chromosomes were found labelled. Total cellular radioactivity of the culture receiving heterologous labelled DNA was higher than the culture receiving homologous DNA; however the chromosomal radioactivity was on the opposite where it was higher in case of the culture receiving homologous DNA

  12. Gene therapy in keratoconus

    Directory of Open Access Journals (Sweden)

    Mahgol Farjadnia

    2015-01-01

    Full Text Available Keratoconus (KC is the most common ectasia of the cornea and is a common reason for corneal transplant. Therapeutic strategies that can arrest the progression of this disease and modify the underlying pathogenesis are getting more and more popularity among scientists. Cumulating data represent strong evidence of a genetic role in the pathogenesis of KC. Different loci have been identified, and certain mutations have also been mapped for this disease. Moreover, Biophysical properties of the cornea create an appropriate candidate of this tissue for gene therapy. Immune privilege, transparency and ex vivo stability are among these properties. Recent advantage in vectors, besides the ability to modulate the corneal milieu for accepting the target gene for a longer period and fruitful translation, make a big hope for stupendous results reasonable.

  13. Graphene based gene transfection

    Science.gov (United States)

    Feng, Liangzhu; Zhang, Shuai; Liu, Zhuang

    2011-03-01

    Graphene as a star in materials research has been attracting tremendous attentions in the past few years in various fields including biomedicine. In this work, for the first time we successfully use graphene as a non-toxic nano-vehicle for efficient gene transfection. Graphene oxide (GO) is bound with cationic polymers, polyethyleneimine (PEI) with two different molecular weights at 1.2 kDa and 10 kDa, forming GO-PEI-1.2k and GO-PEG-10k complexes, respectively, both of which are stable in physiological solutions. Cellular toxicity tests reveal that our GO-PEI-10k complex exhibits significantly reduced toxicity to the treated cells compared to the bare PEI-10k polymer. The positively charged GO-PEI complexes are able to further bind with plasmid DNA (pDNA) for intracellular transfection of the enhanced green fluorescence protein (EGFP) gene in HeLa cells. While EGFP transfection with PEI-1.2k appears to be ineffective, high EGFP expression is observed using the corresponding GO-PEI-1.2k as the transfection agent. On the other hand, GO-PEI-10k shows similar EGFP transfection efficiency but lower toxicity compared with PEI-10k. Our results suggest graphene to be a novel gene delivery nano-vector with low cytotoxicity and high transfection efficiency, promising for future applications in non-viral based gene therapy.Graphene as a star in materials research has been attracting tremendous attentions in the past few years in various fields including biomedicine. In this work, for the first time we successfully use graphene as a non-toxic nano-vehicle for efficient gene transfection. Graphene oxide (GO) is bound with cationic polymers, polyethyleneimine (PEI) with two different molecular weights at 1.2 kDa and 10 kDa, forming GO-PEI-1.2k and GO-PEG-10k complexes, respectively, both of which are stable in physiological solutions. Cellular toxicity tests reveal that our GO-PEI-10k complex exhibits significantly reduced toxicity to the treated cells compared to the bare PEI

  14. Gene Expression in Bone

    Science.gov (United States)

    D'Ambrogio, A.

    Skeletal system has two main functions, to provide mechanical integrity for both locomotion and protection and to play an important role in mineral homeostasis. There is extensive evidence showing loss of bone mass during long-term Space-Flights. The loss is due to a break in the equilibrium between the activity of osteoblasts (the cells that forms bone) and the activity of osteoclasts (the cells that resorbs bone). Surprisingly, there is scanty information about the possible altered gene expression occurring in cells that form bone in microgravity.(Just 69 articles result from a "gene expression in microgravity" MedLine query.) Gene-chip or microarray technology allows to screen thousands of genes at the same time: the use of this technology on samples coming from cells exposed to microgravity could provide us with many important informations. For example, the identification of the molecules or structures which are the first sensors of the mechanical stress derived from lack of gravity, could help in understanding which is the first event leading to bone loss due to long-term exposure to microgravity. Consequently, this structure could become a target for a custom-designed drug. It is evident that bone mass loss, observed during long-time stay in Space, represents an accelerated model of what happens in aging osteoporosis. Therefore, the discovery and design of drugs able to interfere with the bone-loss process, could help also in preventing negative physiological processes normally observed on Earth. Considering the aims stated above, my research is designed to:

  15. Gene Porter Bridwell

    Science.gov (United States)

    1994-01-01

    Gene Porter Bridwell served as the director of the Marshall Space Flight Center from January 6, 1994 until February 3, 1996, when he retired from NASA after thirty-four years service. Bridwell, a Marshall employee since 1962, had been Marshall's Space Shuttle Projects Office Director and Space Station Redesign Team deputy manager. Under Bridwell, Marshall worked to develop its role as a Center of Excellence for propulsion and for providing access to space.

  16. Mutant genes in pea breeding

    International Nuclear Information System (INIS)

    Swiecicki, W.K.

    1990-01-01

    Full text: Mutations of genes Dpo (dehiscing pods) and A (anthocyanin synthesis) played a role in pea domestication. A number of other genes were important in cultivar development for 3 types of usage (dry seeds, green vegetable types, fodder), e.g. fn, fna, le, p, v, fas and af. New genes (induced and spontaneous), are important for present ideotypes and are registered by the Pisum Genetics Association (PGA). Comparison of a pea variety ideotype with the variation available in gene banks shows that breeders need 'new' features. In mutation induction experiments, genotype, mutagen and method of treatment (e.g. combined or fractionated doses) are varied for broadening the mutation spectrum and selecting more genes of agronomic value. New genes are genetically analysed. In Poland, some mutant varieties with the gene afila were registered, controlling lodging by a shorter stem and a higher number of internodes. Really non-lodging pea varieties could strongly increase seed yield. But the probability of detecting a major gene for lodging resistance is low. Therefore, mutant genes with smaller influence on plant architecture are sought, to combine their effect by crossing. Promising seem to be the genes rogue, reductus and arthritic as well as a number of mutant genes not yet genetically identified. The gene det for terminal inflorescence - similarly to Vicia faba - changes plant development. Utilisation of assimilates and ripening should be better. Improvement of harvest index should give higher seed yield. A number of genes controlling disease resistance are well known (eg. Fw, Fnw, En, mo and sbm). Important in mass screening of resistance are closely linked gene markers. Pea gene banks collect respective lines, but mutants induced in highly productive cultivars would be better. Inducing gene markers sometimes seems to be easier than transfer by crossing. Mutation induction in pea breeding is probably more important because a high number of monogenic features are

  17. Regulation of eucaryotic gene expression

    Energy Technology Data Exchange (ETDEWEB)

    Brent, R.; Ptashne, M.S

    1989-05-23

    This patent describes a method of regulating the expression of a gene in a eucaryotic cell. The method consists of: providing in the eucaryotic cell, a peptide, derived from or substantially similar to a peptide of a procaryotic cell able to bind to DNA upstream from or within the gene, the amount of the peptide being sufficient to bind to the gene and thereby control expression of the gene.

  18. Genealogy and gene trees.

    Science.gov (United States)

    Rasmuson, Marianne

    2008-02-01

    Heredity can be followed in persons or in genes. Persons can be identified only a few generations back, but simplified models indicate that universal ancestors to all now living persons have occurred in the past. Genetic variability can be characterized as variants of DNA sequences. Data are available only from living persons, but from the pattern of variation gene trees can be inferred by means of coalescence models. The merging of lines backwards in time leads to a MRCA (most recent common ancestor). The time and place of living for this inferred person can give insights in human evolutionary history. Demographic processes are incorporated in the model, but since culture and customs are known to influence demography the models used ought to be tested against available genealogy. The Icelandic data base offers a possibility to do so and points to some discrepancies. Mitochondrial DNA and Y chromosome patterns give a rather consistent view of human evolutionary history during the latest 100 000 years but the earlier epochs of human evolution demand gene trees with longer branches. The results of such studies reveal as yet unsolved problems about the sources of our genome.

  19. Gene-gene and gene-environmental interactions of childhood asthma: a multifactor dimension reduction approach.

    Directory of Open Access Journals (Sweden)

    Ming-Wei Su

    Full Text Available BACKGROUND: The importance of gene-gene and gene-environment interactions on asthma is well documented in literature, but a systematic analysis on the interaction between various genetic and environmental factors is still lacking. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a population-based, case-control study comprised of seventh-grade children from 14 Taiwanese communities. A total of 235 asthmatic cases and 1,310 non-asthmatic controls were selected for DNA collection and genotyping. We examined the gene-gene and gene-environment interactions between 17 single-nucleotide polymorphisms in antioxidative, inflammatory and obesity-related genes, and childhood asthma. Environmental exposures and disease status were obtained from parental questionnaires. The model-free and non-parametrical multifactor dimensionality reduction (MDR method was used for the analysis. A three-way gene-gene interaction was elucidated between the gene coding glutathione S-transferase P (GSTP1, the gene coding interleukin-4 receptor alpha chain (IL4Ra and the gene coding insulin induced gene 2 (INSIG2 on the risk of lifetime asthma. The testing-balanced accuracy on asthma was 57.83% with a cross-validation consistency of 10 out of 10. The interaction of preterm birth and indoor dampness had the highest training-balanced accuracy at 59.09%. Indoor dampness also interacted with many genes, including IL13, beta-2 adrenergic receptor (ADRB2, signal transducer and activator of transcription 6 (STAT6. We also used likelihood ratio tests for interaction and chi-square tests to validate our results and all tests showed statistical significance. CONCLUSIONS/SIGNIFICANCE: The results of this study suggest that GSTP1, INSIG2 and IL4Ra may influence the lifetime asthma susceptibility through gene-gene interactions in schoolchildren. Home dampness combined with each one of the genes STAT6, IL13 and ADRB2 could raise the asthma risk.

  20. Gene therapy of cancer and development of therapeutic target gene

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chang Min; Kwon, Hee Chung

    1998-04-01

    We applied HSV-tk/GCV strategy to orthotopic rat hepatoma model and showed anticancer effects of hepatoma. The increased expression of Lac Z gene after adenovirus-mediated gene delivery throughout hepatic artery was thought that is increased the possibility of gene therapy for curing hepatoma. With the construction of kGLP-laboratory, it is possible to produce a good quantity and quality of adenovirus in lage-scale production and purification of adenovirus vector. Also, the analysis of hepatoma related genes by PCR-LOH could be used for the diagnosis of patients and the development of therapeutic gene.

  1. Gene therapy of cancer and development of therapeutic target gene

    International Nuclear Information System (INIS)

    Kim, Chang Min; Kwon, Hee Chung

    1998-04-01

    We applied HSV-tk/GCV strategy to orthotopic rat hepatoma model and showed anticancer effects of hepatoma. The increased expression of Lac Z gene after adenovirus-mediated gene delivery throughout hepatic artery was thought that is increased the possibility of gene therapy for curing hepatoma. With the construction of kGLP-laboratory, it is possible to produce a good quantity and quality of adenovirus in lage-scale production and purification of adenovirus vector. Also, the analysis of hepatoma related genes by PCR-LOH could be used for the diagnosis of patients and the development of therapeutic gene

  2. Gene probes: principles and protocols

    National Research Council Canada - National Science Library

    Aquino de Muro, Marilena; Rapley, Ralph

    2002-01-01

    ... of labeled DNA has allowed genes to be mapped to single chromosomes and in many cases to a single chromosome band, promoting significant advance in human genome mapping. Gene Probes: Principles and Protocols presents the principles for gene probe design, labeling, detection, target format, and hybridization conditions together with detailed protocols, accom...

  3. Independent Gene Discovery and Testing

    Science.gov (United States)

    Palsule, Vrushalee; Coric, Dijana; Delancy, Russell; Dunham, Heather; Melancon, Caleb; Thompson, Dennis; Toms, Jamie; White, Ashley; Shultz, Jeffry

    2010-01-01

    A clear understanding of basic gene structure is critical when teaching molecular genetics, the central dogma and the biological sciences. We sought to create a gene-based teaching project to improve students' understanding of gene structure and to integrate this into a research project that can be implemented by instructors at the secondary level…

  4. Compositional gradients in Gramineae genes

    DEFF Research Database (Denmark)

    Wong, Gane Ka-Shu; Wang, Jun; Tao, Lin

    2002-01-01

    In this study, we describe a property of Gramineae genes, and perhaps all monocot genes, that is not observed in eudicot genes. Along the direction of transcription, beginning at the junction of the 5'-UTR and the coding region, there are gradients in GC content, codon usage, and amino-acid usage...

  5. Gene electrotransfer in clinical trials

    DEFF Research Database (Denmark)

    Gehl, Julie

    2014-01-01

    Electroporation is increasingly being used for delivery of chemotherapy to tumors. Likewise, gene delivery by electroporation is rapidly gaining momentum for both vaccination purposes and for delivery of genes coding for other therapeutic molecules, such as chronic diseases or cancer. This chapte...... describes how gene therapy may be performed using electric pulses to enhance uptake and expression.......Electroporation is increasingly being used for delivery of chemotherapy to tumors. Likewise, gene delivery by electroporation is rapidly gaining momentum for both vaccination purposes and for delivery of genes coding for other therapeutic molecules, such as chronic diseases or cancer. This chapter...

  6. The ethics of gene therapy.

    Science.gov (United States)

    Chan, Sarah; Harris, John

    2006-10-01

    Recent developments have progressed in areas of science that pertain to gene therapy and its ethical implications. This review discusses the current state of therapeutic gene technologies, including stem cell therapies and genetic modification, and identifies ethical issues of concern in relation to the science of gene therapy and its application, including the ethics of embryonic stem cell research and therapeutic cloning, the risks associated with gene therapy, and the ethics of clinical research in developing new therapeutic technologies. Additionally, ethical issues relating to genetic modification itself are considered: the significance of the human genome, the distinction between therapy and enhancement, and concerns regarding gene therapy as a eugenic practice.

  7. Exploring new gene integration sites for gene knock-in by gene-trapping strategy.

    Science.gov (United States)

    Nanchi, Isamu; Yoshimura, Yuki; Nakamura, Kazuomi; Masago, Yusaku; Ohbayashi, Tetsuya; Okuda, Tomohiko

    2015-06-01

    The knock-in mouse is a powerful tool for biological research, but the stability of expression of an integrated gene strongly depends on where it is integrated in the mouse genome. At present, there are an insufficient number of loci suitable for gene knock-in, such as the Rosa26 locus. Therefore, in this study, we developed an efficient strategy for identifying genome loci suitable for gene knock-in and characterized the properties of such loci for gene integration. For efficient discovery and characterization, we constructed a new gene-trapping vector that enables monitoring of the expression of both trapped and integrated genes using fluorescence. We successfully obtained fluorescent-positive mouse embryonic stem cell (mESC) clones with the vector. Thorough analysis of the expression of fluorescent proteins in chimera embryos generated with the obtained mESC clones, some of the gene-trapped chimera embryos showed stable and ubiquitous expression of the integrated gene. Furthermore, adult mice derived from one of the gene-trapped mESC clones showed ubiquitous expression of the integrated gene in various tissues without any unusual phenotype. This indicated that the identified locus possesses high potential for foreign gene integration. Our strategy allows for efficient discovery and characterization of mouse genome loci for gene integration.

  8. Radiopharmaceuticals to monitor gene transfer

    International Nuclear Information System (INIS)

    Wiebe, L. I.; Morin, K. W.; Knaus, E. E.

    1997-01-01

    Advances in genetic engineering and molecular biology have opened the door to disease treatment by transferring genes to cells that are responsible for the pathological condition being addressed. These genes can serve to supplement or introduce the function of indigenous genes that are either inadequately expressed or that are congenitally absent in the patient. They can introduce new functions such as drug sensitization to provide a unique therapeutic target. Gene transfer is readily monitored in vitro using a range of histochemical and biochemical tests that are ''built in'' to the therapeutic gene cassette. In vivo, in situ monitoring of the gene transfer and gene expression processes can be achieved with these tests only if biopsy is possible. Scintigraphic imaging can offer unique information on both the extent and location of gene expression, provided that an appropriate reporter gene is included in the therapeutic cassette. This overview includes a brief orientation to gene transfer therapy and is followed by a review of current approaches to gene therapy imaging. The concluding section deals with imaging based on radiolabelled nucleoside substrates for herpes simplex type-1 thymidine kinase, with emphasis on IVFRU, a stable potent and selective HSV-1 TK substrate developed in their laboratories

  9. Gene finding in novel genomes

    Directory of Open Access Journals (Sweden)

    Korf Ian

    2004-05-01

    Full Text Available Abstract Background Computational gene prediction continues to be an important problem, especially for genomes with little experimental data. Results I introduce the SNAP gene finder which has been designed to be easily adaptable to a variety of genomes. In novel genomes without an appropriate gene finder, I demonstrate that employing a foreign gene finder can produce highly inaccurate results, and that the most compatible parameters may not come from the nearest phylogenetic neighbor. I find that foreign gene finders are more usefully employed to bootstrap parameter estimation and that the resulting parameters can be highly accurate. Conclusion Since gene prediction is sensitive to species-specific parameters, every genome needs a dedicated gene finder.

  10. Gene circuit analysis of the terminal gap gene huckebein.

    Directory of Open Access Journals (Sweden)

    Maksat Ashyraliyev

    2009-10-01

    Full Text Available The early embryo of Drosophila melanogaster provides a powerful model system to study the role of genes in pattern formation. The gap gene network constitutes the first zygotic regulatory tier in the hierarchy of the segmentation genes involved in specifying the position of body segments. Here, we use an integrative, systems-level approach to investigate the regulatory effect of the terminal gap gene huckebein (hkb on gap gene expression. We present quantitative expression data for the Hkb protein, which enable us to include hkb in gap gene circuit models. Gap gene circuits are mathematical models of gene networks used as computational tools to extract regulatory information from spatial expression data. This is achieved by fitting the model to gap gene expression patterns, in order to obtain estimates for regulatory parameters which predict a specific network topology. We show how considering variability in the data combined with analysis of parameter determinability significantly improves the biological relevance and consistency of the approach. Our models are in agreement with earlier results, which they extend in two important respects: First, we show that Hkb is involved in the regulation of the posterior hunchback (hb domain, but does not have any other essential function. Specifically, Hkb is required for the anterior shift in the posterior border of this domain, which is now reproduced correctly in our models. Second, gap gene circuits presented here are able to reproduce mutants of terminal gap genes, while previously published models were unable to reproduce any null mutants correctly. As a consequence, our models now capture the expression dynamics of all posterior gap genes and some variational properties of the system correctly. This is an important step towards a better, quantitative understanding of the developmental and evolutionary dynamics of the gap gene network.

  11. Maximum Gene-Support Tree

    Directory of Open Access Journals (Sweden)

    Yunfeng Shan

    2008-01-01

    Full Text Available Genomes and genes diversify during evolution; however, it is unclear to what extent genes still retain the relationship among species. Model species for molecular phylogenetic studies include yeasts and viruses whose genomes were sequenced as well as plants that have the fossil-supported true phylogenetic trees available. In this study, we generated single gene trees of seven yeast species as well as single gene trees of nine baculovirus species using all the orthologous genes among the species compared. Homologous genes among seven known plants were used for validation of the finding. Four algorithms—maximum parsimony (MP, minimum evolution (ME, maximum likelihood (ML, and neighbor-joining (NJ—were used. Trees were reconstructed before and after weighting the DNA and protein sequence lengths among genes. Rarely a gene can always generate the “true tree” by all the four algorithms. However, the most frequent gene tree, termed “maximum gene-support tree” (MGS tree, or WMGS tree for the weighted one, in yeasts, baculoviruses, or plants was consistently found to be the “true tree” among the species. The results provide insights into the overall degree of divergence of orthologous genes of the genomes analyzed and suggest the following: 1 The true tree relationship among the species studied is still maintained by the largest group of orthologous genes; 2 There are usually more orthologous genes with higher similarities between genetically closer species than between genetically more distant ones; and 3 The maximum gene-support tree reflects the phylogenetic relationship among species in comparison.

  12. MUTATIONS IN CALMODULIN GENES

    DEFF Research Database (Denmark)

    2013-01-01

    The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The ...... the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes....

  13. Genes and Disease: Prader-Willi Syndrome

    Science.gov (United States)

    ... MD): National Center for Biotechnology Information (US); 1998-. Genes and Disease [Internet]. Show details National Center for ... 45K) PDF version of this title (3.8M) Gene sequence Genome view see gene locations Entrez Gene ...

  14. Human AZU-1 gene, variants thereof and expressed gene products

    Science.gov (United States)

    Chen, Huei-Mei; Bissell, Mina

    2004-06-22

    A human AZU-1 gene, mutants, variants and fragments thereof. Protein products encoded by the AZU-1 gene and homologs encoded by the variants of AZU-1 gene acting as tumor suppressors or markers of malignancy progression and tumorigenicity reversion. Identification, isolation and characterization of AZU-1 and AZU-2 genes localized to a tumor suppressive locus at chromosome 10q26, highly expressed in nonmalignant and premalignant cells derived from a human breast tumor progression model. A recombinant full length protein sequences encoded by the AZU-1 gene and nucleotide sequences of AZU-1 and AZU-2 genes and variant and fragments thereof. Monoclonal or polyclonal antibodies specific to AZU-1, AZU-2 encoded protein and to AZU-1, or AZU-2 encoded protein homologs.

  15. One gene, many phenotypes

    Directory of Open Access Journals (Sweden)

    Prasun P

    2007-01-01

    Full Text Available "Phenotype" is the visible or quantifiable effect of the expression of a gene, whereas the specific genetic constitution responsible for a phenotype is called "genotype". It was hoped that phenotype could be accurately predicted if the genotype could be characterized. But, the relationship between the genotype and phenotype is not straightforward. Similar genetic lesions can have entirely different phenotypes. In recent years, there has been tremendous progress in the understanding of the genetic basis of diseases. The extent to which it will be possible to relate findings at the DNA level to the clinical phenotype is difficult to delineate on many occasions. The elucidation of mechanisms underlying genotype-phenotype discrepancies is important as it will influence the use of DNA-based tests in the diagnosis, therapy and counseling of individuals affected with genetic disorders. This issue is pertinent to almost every aspect of medical practice and research in this post-genome era. In this article, we have tried to summarize those factors which are responsible for varied manifestations of lesion(s in a single gene.

  16. Reverse engineering transcriptional gene networks.

    Science.gov (United States)

    Belcastro, Vincenzo; di Bernardo, Diego

    2014-01-01

    The aim of this chapter is a step-by-step guide on how to infer gene networks from gene expression profiles. The definition of a gene network is given in Subheading 1, where the different types of networks are discussed. The chapter then guides the readers through a data-gathering process in order to build a compendium of gene expression profiles from a public repository. Gene expression profiles are then discretized and a statistical relationship between genes, called mutual information (MI), is computed. Gene pairs with insignificant MI scores are then discarded by applying one of the described pruning steps. The retained relationships are then used to build up a Boolean adjacency matrix used as input for a clustering algorithm to divide the network into modules (or communities). The gene network can then be used as a hypothesis generator for discovering gene function and analyzing gene signatures. Some case studies are presented, and an online web-tool called Netview is described.

  17. Bayesian assignment of gene ontology terms to gene expression experiments.

    Science.gov (United States)

    Sykacek, P

    2012-09-15

    Gene expression assays allow for genome scale analyses of molecular biological mechanisms. State-of-the-art data analysis provides lists of involved genes, either by calculating significance levels of mRNA abundance or by Bayesian assessments of gene activity. A common problem of such approaches is the difficulty of interpreting the biological implication of the resulting gene lists. This lead to an increased interest in methods for inferring high-level biological information. A common approach for representing high level information is by inferring gene ontology (GO) terms which may be attributed to the expression data experiment. This article proposes a probabilistic model for GO term inference. Modelling assumes that gene annotations to GO terms are available and gene involvement in an experiment is represented by a posterior probabilities over gene-specific indicator variables. Such probability measures result from many Bayesian approaches for expression data analysis. The proposed model combines these indicator probabilities in a probabilistic fashion and provides a probabilistic GO term assignment as a result. Experiments on synthetic and microarray data suggest that advantages of the proposed probabilistic GO term inference over statistical test-based approaches are in particular evident for sparsely annotated GO terms and in situations of large uncertainty about gene activity. Provided that appropriate annotations exist, the proposed approach is easily applied to inferring other high level assignments like pathways. Source code under GPL license is available from the author. peter.sykacek@boku.ac.at.

  18. Bayesian assignment of gene ontology terms to gene expression experiments

    Science.gov (United States)

    Sykacek, P.

    2012-01-01

    Motivation: Gene expression assays allow for genome scale analyses of molecular biological mechanisms. State-of-the-art data analysis provides lists of involved genes, either by calculating significance levels of mRNA abundance or by Bayesian assessments of gene activity. A common problem of such approaches is the difficulty of interpreting the biological implication of the resulting gene lists. This lead to an increased interest in methods for inferring high-level biological information. A common approach for representing high level information is by inferring gene ontology (GO) terms which may be attributed to the expression data experiment. Results: This article proposes a probabilistic model for GO term inference. Modelling assumes that gene annotations to GO terms are available and gene involvement in an experiment is represented by a posterior probabilities over gene-specific indicator variables. Such probability measures result from many Bayesian approaches for expression data analysis. The proposed model combines these indicator probabilities in a probabilistic fashion and provides a probabilistic GO term assignment as a result. Experiments on synthetic and microarray data suggest that advantages of the proposed probabilistic GO term inference over statistical test-based approaches are in particular evident for sparsely annotated GO terms and in situations of large uncertainty about gene activity. Provided that appropriate annotations exist, the proposed approach is easily applied to inferring other high level assignments like pathways. Availability: Source code under GPL license is available from the author. Contact: peter.sykacek@boku.ac.at PMID:22962488

  19. Generalist genes and learning disabilities.

    Science.gov (United States)

    Plomin, Robert; Kovas, Yulia

    2005-07-01

    The authors reviewed recent quantitative genetic research on learning disabilities that led to the conclusion that genetic diagnoses differ from traditional diagnoses in that the effects of relevant genes are largely general rather than specific. This research suggests that most genes associated with common learning disabilities--language impairment, reading disability, and mathematics disability--are generalists in 3 ways. First, genes that affect common learning disabilities are largely the same genes responsible for normal variation in learning abilities. Second, genes that affect any aspect of a learning disability affect other aspects of the disability. Third, genes that affect one learning disability are also likely to affect other learning disabilities. These quantitative genetic findings have far-reaching implications for molecular genetics and neuroscience as well as psychology. Copyright 2005 APA, all rights reserved.

  20. Differential Gene Expression and Aging

    Directory of Open Access Journals (Sweden)

    Laurent Seroude

    2002-01-01

    Full Text Available It has been established that an intricate program of gene expression controls progression through the different stages in development. The equally complex biological phenomenon known as aging is genetically determined and environmentally modulated. This review focuses on the genetic component of aging, with a special emphasis on differential gene expression. At least two genetic pathways regulating organism longevity act by modifying gene expression. Many genes are also subjected to age-dependent transcriptional regulation. Some age-related gene expression changes are prevented by caloric restriction, the most robust intervention that slows down the aging process. Manipulating the expression of some age-regulated genes can extend an organism's life span. Remarkably, the activity of many transcription regulatory elements is linked to physiological age as opposed to chronological age, indicating that orderly and tightly controlled regulatory pathways are active during aging.

  1. Gene Therapy for Cartilage Repair

    Science.gov (United States)

    Madry, Henning; Orth, Patrick; Cucchiarini, Magali

    2011-01-01

    The concept of using gene transfer strategies for cartilage repair originates from the idea of transferring genes encoding therapeutic factors into the repair tissue, resulting in a temporarily and spatially defined delivery of therapeutic molecules to sites of cartilage damage. This review focuses on the potential benefits of using gene therapy approaches for the repair of articular cartilage and meniscal fibrocartilage, including articular cartilage defects resulting from acute trauma, osteochondritis dissecans, osteonecrosis, and osteoarthritis. Possible applications for meniscal repair comprise meniscal lesions, meniscal sutures, and meniscal transplantation. Recent studies in both small and large animal models have demonstrated the applicability of gene-based approaches for cartilage repair. Chondrogenic pathways were stimulated in the repair tissue and in osteoarthritic cartilage using genes for polypeptide growth factors and transcription factors. Although encouraging data have been generated, a successful translation of gene therapy for cartilage repair will require an ongoing combined effort of orthopedic surgeons and of basic scientists. PMID:26069580

  2. Gene Therapy for Fracture Repair

    Science.gov (United States)

    2007-05-01

    the periosteal tissues of healing fractures in small animals , and allow more accurate evaluation of the effects of the fracture therapy (Rundle et...X-ray fluoroscopy (Figure 7). Individual animals receiving the MLV-BMP-2/4 gene therapy by either the percutaneous injection or the intramedullary... animal subjects to understand gene expression in the healing response to bone injury and identify novel genes that might accelerate or delay the

  3. A genetic ensemble approach for gene-gene interaction identification

    Directory of Open Access Journals (Sweden)

    Ho Joshua WK

    2010-10-01

    Full Text Available Abstract Background It has now become clear that gene-gene interactions and gene-environment interactions are ubiquitous and fundamental mechanisms for the development of complex diseases. Though a considerable effort has been put into developing statistical models and algorithmic strategies for identifying such interactions, the accurate identification of those genetic interactions has been proven to be very challenging. Methods In this paper, we propose a new approach for identifying such gene-gene and gene-environment interactions underlying complex diseases. This is a hybrid algorithm and it combines genetic algorithm (GA and an ensemble of classifiers (called genetic ensemble. Using this approach, the original problem of SNP interaction identification is converted into a data mining problem of combinatorial feature selection. By collecting various single nucleotide polymorphisms (SNP subsets as well as environmental factors generated in multiple GA runs, patterns of gene-gene and gene-environment interactions can be extracted using a simple combinatorial ranking method. Also considered in this study is the idea of combining identification results obtained from multiple algorithms. A novel formula based on pairwise double fault is designed to quantify the degree of complementarity. Conclusions Our simulation study demonstrates that the proposed genetic ensemble algorithm has comparable identification power to Multifactor Dimensionality Reduction (MDR and is slightly better than Polymorphism Interaction Analysis (PIA, which are the two most popular methods for gene-gene interaction identification. More importantly, the identification results generated by using our genetic ensemble algorithm are highly complementary to those obtained by PIA and MDR. Experimental results from our simulation studies and real world data application also confirm the effectiveness of the proposed genetic ensemble algorithm, as well as the potential benefits of

  4. Genes, evolution and intelligence.

    Science.gov (United States)

    Bouchard, Thomas J

    2014-11-01

    I argue that the g factor meets the fundamental criteria of a scientific construct more fully than any other conception of intelligence. I briefly discuss the evidence regarding the relationship of brain size to intelligence. A review of a large body of evidence demonstrates that there is a g factor in a wide range of species and that, in the species studied, it relates to brain size and is heritable. These findings suggest that many species have evolved a general-purpose mechanism (a general biological intelligence) for dealing with the environments in which they evolved. In spite of numerous studies with considerable statistical power, we know of very few genes that influence g and the effects are very small. Nevertheless, g appears to be highly polygenic. Given the complexity of the human brain, it is not surprising that that one of its primary faculties-intelligence-is best explained by the near infinitesimal model of quantitative genetics.

  5. Gene therapy for hemophilia

    Science.gov (United States)

    Rogers, Geoffrey L.; Herzog, Roland W.

    2015-01-01

    Hemophilia is an X-linked inherited bleeding disorder consisting of two classifications, hemophilia A and hemophilia B, depending on the underlying mutation. Although the disease is currently treatable with intravenous delivery of replacement recombinant clotting factor, this approach represents a significant cost both monetarily and in terms of quality of life. Gene therapy is an attractive alternative approach to the treatment of hemophilia that would ideally provide life-long correction of clotting activity with a single injection. In this review, we will discuss the multitude of approaches that have been explored for the treatment of both hemophilia A and B, including both in vivo and ex vivo approaches with viral and nonviral delivery vectors. PMID:25553466

  6. Introduction: Cancer Gene Networks.

    Science.gov (United States)

    Clarke, Robert

    2017-01-01

    Constructing, evaluating, and interpreting gene networks generally sits within the broader field of systems biology, which continues to emerge rapidly, particular with respect to its application to understanding the complexity of signaling in the context of cancer biology. For the purposes of this volume, we take a broad definition of systems biology. Considering an organism or disease within an organism as a system, systems biology is the study of the integrated and coordinated interactions of the network(s) of genes, their variants both natural and mutated (e.g., polymorphisms, rearrangements, alternate splicing, mutations), their proteins and isoforms, and the organic and inorganic molecules with which they interact, to execute the biochemical reactions (e.g., as enzymes, substrates, products) that reflect the function of that system. Central to systems biology, and perhaps the only approach that can effectively manage the complexity of such systems, is the building of quantitative multiscale predictive models. The predictions of the models can vary substantially depending on the nature of the model and its inputoutput relationships. For example, a model may predict the outcome of a specific molecular reaction(s), a cellular phenotype (e.g., alive, dead, growth arrest, proliferation, and motility), a change in the respective prevalence of cell or subpopulations, a patient or patient subgroup outcome(s). Such models necessarily require computers. Computational modeling can be thought of as using machine learning and related tools to integrate the very high dimensional data generated from modern, high throughput omics technologies including genomics (next generation sequencing), transcriptomics (gene expression microarrays; RNAseq), metabolomics and proteomics (ultra high performance liquid chromatography, mass spectrometry), and "subomic" technologies to study the kinome, methylome, and others. Mathematical modeling can be thought of as the use of ordinary

  7. Gene expression in colorectal cancer

    DEFF Research Database (Denmark)

    Birkenkamp-Demtroder, Karin; Christensen, Lise Lotte; Olesen, Sanne Harder

    2002-01-01

    Understanding molecular alterations in colorectal cancer (CRC) is needed to define new biomarkers and treatment targets. We used oligonucleotide microarrays to monitor gene expression of about 6,800 known genes and 35,000 expressed sequence tags (ESTs) on five pools (four to six samples in each......' C, and clustered Dukes' D separately. Real-time PCR of 10 known genes and 5 ESTs demonstrated excellent reproducibility of the array-based findings. The most frequently altered genes belonged to functional categories of metabolism (22%), transcription and translation (11%), and cellular processes (9...

  8. Synthetic sustained gene delivery systems.

    Science.gov (United States)

    Agarwal, Ankit; Mallapragada, Surya K

    2008-01-01

    Gene therapy today is hampered by the need of a safe and efficient gene delivery system that can provide a sustained therapeutic effect without cytotoxicity or unwanted immune responses. Bolus gene delivery in solution results in the loss of delivered factors via lymphatic system and may cause undesired effects by the escape of bioactive molecules to distant sites. Controlled gene delivery systems, acting as localized depot of genes, provide an extended sustained release of genes, giving prolonged maintenance of the therapeutic level of encoded proteins. They also limit the DNA degradation in the nuclease rich extra-cellular environment. While attempts have been made to adapt existing controlled drug delivery technologies, more novel approaches are being investigated for controlled gene delivery. DNA encapsulated in nano/micro spheres of polymers have been administered systemically/orally to be taken up by the targeted tissues and provide sustained release once internalized. Alternatively, DNA entrapped in hydrogels or scaffolds have been injected/implanted in tissues/cavities as platforms for gene delivery. The present review examines these different modalities for sustained delivery of viral and non-viral gene-delivery vectors. Design parameters and release mechanisms of different systems made with synthetic or natural polymers are presented along with their prospective applications and opportunities for continuous development.

  9. Gene therapy and reproductive medicine.

    Science.gov (United States)

    Stribley, John M; Rehman, Khurram S; Niu, Hairong; Christman, Gregory M

    2002-04-01

    To review the literature on the principles of gene therapy and its potential application in reproductive medicine. Literature review. Gene therapy involves transfer of genetic material to target cells using a delivery system, or vector. Attention has primarily focused on viral vectors. Significant problems remain to be overcome including low efficacy of gene transfer, the transient expression of some vectors, safety issues with modified adenoviruses and retroviruses, and ethical concerns. If these issues can be resolved, gene therapy will be applicable to an increasing spectrum of single and multiple gene disorders, as the Human Genome Project data are analyzed, and the genetic component of human disease becomes better understood. Gynecologic gene therapy has advanced to human clinical trials for ovarian carcinoma, and shows potential for the treatment of uterine leiomyomata. Obstetric applications of gene therapy, including fetal gene therapy, remain more distant goals. Concerns about the safety of human gene therapy research are being actively addressed, and remarkable progress in improving DNA transfer has been made. The first treatment success for a genetic disease (severe combined immunodeficiency disease) has been achieved, and ongoing research efforts will eventually yield clinical applications in many spheres of reproductive medicine.

  10. Gene- and evidence-based candidate gene selection for schizophrenia and gene feature analysis.

    Science.gov (United States)

    Sun, Jingchun; Han, Leng; Zhao, Zhongming

    2010-01-01

    Schizophrenia is a chronic psychiatric disorder that affects about 1% of the population globally. A tremendous amount of effort has been expended in the past decade, including more than 2400 association studies, to identify genes influencing susceptibility to the disorder. However, few genes or markers have been reliably replicated. The wealth of this information calls for an integration of gene association data, evidence-based gene ranking, and follow-up replication in large sample. The objective of this study is to develop and evaluate evidence-based gene ranking methods and to examine the features of top-ranking candidate genes for schizophrenia. We proposed a gene-based approach for selecting and prioritizing candidate genes by combining odds ratios (ORs) of multiple markers in each association study and then combining ORs in multiple studies of a gene. We named it combination-combination OR method (CCOR). CCOR is similar to our recently published method, which first selects the largest OR of the markers in each study and then combines these ORs in multiple studies (i.e., selection-combination OR method, SCOR), but differs in selecting representative OR in each study. Features of top-ranking genes were examined by Gene Ontology terms and gene expression in tissues. Our evaluation suggested that the SCOR method overall outperforms the CCOR method. Using the SCOR, a list of 75 top-ranking genes was selected for schizophrenia candidate genes (SZGenes). We found that SZGenes had strong correlation with neuro-related functional terms and were highly expressed in brain-related tissues. The scientific landscape for schizophrenia genetics and other complex disease studies is expected to change dramatically in the next a few years, thus, the gene-based combined OR method is useful in candidate gene selection for follow-up association studies and in further artificial intelligence in medicine. This method for prioritization of candidate genes can be applied to other

  11. Gene therapy for meningioma: improved gene delivery with targeted adenoviruses

    NARCIS (Netherlands)

    Dirven, Clemens M. F.; Grill, Jacques; Lamfers, Martine L. M.; van der Valk, Paul; Leonhart, Angelique M.; van Beusechem, Victor W.; Haisma, Hidde J.; Pinedo, Herbert M.; Curiel, David T.; Vandertop, W. Peter; Gerritsen, Winald R.

    2002-01-01

    OBJECT: Due to their surgical inaccessibility or aggressive behavior, some meningiomas cannot be cured with current treatment strategies. Gene therapy is an emerging strategy for the treatment of brain tumors, which the authors investigated to determine whether adenoviruses could be used for gene

  12. Gene therapy for meningioma : improved gene delivery with targeted adenoviruses

    NARCIS (Netherlands)

    Dirven, CMF; Grill, J; Lamfers, MLM; Van der Valk, P; Leonhart, AM; Van Beusechem, VW; Haisma, HJ; Pinedo, HM; Curiel, DT; Vandertop, WP; Gerritsen, WR

    Object. Due to their surgical inaccessibility or aggressive behavior, some meningiomas cannot be cured with current treatment strategies. Gene therapy is an emerging strategy for the treatment of brain tumors, which the authors investigated to determine whether adenoviruses could be used for gene

  13. Evaluation of suitable reference genes for gene expression studies ...

    Indian Academy of Sciences (India)

    2011-12-14

    Dec 14, 2011 ... MADS family of TFs control floral organ identity within each whorl of the flower by activating downstream genes. Measuring gene expression in different tissue types and developmental stages is of fundamental importance in TFs functional research. In last few years, quantitative real-time. PCR (qRT-PCR) ...

  14. Are TMEM genes potential candidate genes for panic disorder?

    DEFF Research Database (Denmark)

    NO, Gregersen; Buttenschøn, Henriette Nørmølle; Hedemand, Anne

    2014-01-01

    We analysed single nucleotide polymorphisms in two transmembrane genes (TMEM98 and TMEM132E) in panic disorder (PD) patients and control individuals from the Faroe Islands, Denmark and Germany. The genes encode single-pass membrane proteins and are located within chromosome 17q11.2-q12...

  15. Classifying genes to the correct Gene Ontology Slim term in Saccharomyces cerevisiae using neighbouring genes with classification learning

    Directory of Open Access Journals (Sweden)

    Tsatsoulis Costas

    2010-05-01

    Full Text Available Abstract Background There is increasing evidence that gene location and surrounding genes influence the functionality of genes in the eukaryotic genome. Knowing the Gene Ontology Slim terms associated with a gene gives us insight into a gene's functionality by informing us how its gene product behaves in a cellular context using three different ontologies: molecular function, biological process, and cellular component. In this study, we analyzed if we could classify a gene in Saccharomyces cerevisiae to its correct Gene Ontology Slim term using information about its location in the genome and information from its nearest-neighbouring genes using classification learning. Results We performed experiments to establish that the MultiBoostAB algorithm using the J48 classifier could correctly classify Gene Ontology Slim terms of a gene given information regarding the gene's location and information from its nearest-neighbouring genes for training. Different neighbourhood sizes were examined to determine how many nearest neighbours should be included around each gene to provide better classification rules. Our results show that by just incorporating neighbour information from each gene's two-nearest neighbours, the percentage of correctly classified genes to their correct Gene Ontology Slim term for each ontology reaches over 80% with high accuracy (reflected in F-measures over 0.80 of the classification rules produced. Conclusions We confirmed that in classifying genes to their correct Gene Ontology Slim term, the inclusion of neighbour information from those genes is beneficial. Knowing the location of a gene and the Gene Ontology Slim information from neighbouring genes gives us insight into that gene's functionality. This benefit is seen by just including information from a gene's two-nearest neighbouring genes.

  16. Gene Synthesis with HG Khorana

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 17; Issue 12. Gene Synthesis with H G Khorana. Marvin H Caruthers. General Article Volume 17 Issue 12 December 2012 pp ... Keywords. Chemical synthesis of genes for yeast alanine tRNA and E. coli supressor tRNA; Khorana's philosophy on science.

  17. Clock genes, ADHD and aggression.

    Science.gov (United States)

    Mogavero, Floriana; Jager, Amanda; Glennon, Jeffrey C

    2016-11-09

    Attention deficit/hyperactivity disorder (ADHD) is frequently associated with comorbid aggression and sleep disturbances. The sleep/wake cycle is under the control of the circadian system which is moderated by clock genes. Clock genes can regulate the transcription of monoamine oxidase A, which is involved in the degradation of monoamines. Disturbances in monoamine interaction with clock genes in those with monoamine gene polymorphisms may regulate susceptibility of ADHD and comorbid aggression/sleep disturbances. While monoamines influence circadian rhythm and clock gene expression, circadian rhythm components modulate aggressive behavior, and altered clock genes expression have been associated with ADHD. We propose a mechanism by which circadian rhythm and clock gene expression may influence ADHD and comorbid aggression through the modulation of neurotransmitters. The role of clock genes in ADHD patients with comorbid aggression awaits further research; therefore we also indicate directions for future studies to help increase understanding of the underlying mechanisms in ADHD with comorbid aggression and sleep disturbances. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. (vitamin B1) biosynthesis genes

    African Journals Online (AJOL)

    In this study, the gene transcripts of first two enzymes in thiamine biosynthesis pathway, THIC and THI1/THI4 were identified and amplified from oil palm tissues. Primers were designed based on sequence comparison of the genes from Arabidopsis thaliana, Zea mays, Oryza sativa and Alnus glutinosa. Oil palm's responses ...

  19. superoxide dismutase gene in sugarcane

    African Journals Online (AJOL)

    Yomi

    2012-01-10

    Jan 10, 2012 ... Superoxide dismutases (SODs) play an important role in stress-tolerance in plants. In this study, for the first time, a full-length cDNA sequence of MnSOD gene, termed as Sc-MnSOD (GenBank accession number: GQ246460), was obtained in sugarcane. Sequence analysis revealed that Sc-MnSOD gene ...

  20. Determining Semantically Related Significant Genes.

    Science.gov (United States)

    Taha, Kamal

    2014-01-01

    GO relation embodies some aspects of existence dependency. If GO term xis existence-dependent on GO term y, the presence of y implies the presence of x. Therefore, the genes annotated with the function of the GO term y are usually functionally and semantically related to the genes annotated with the function of the GO term x. A large number of gene set enrichment analysis methods have been developed in recent years for analyzing gene sets enrichment. However, most of these methods overlook the structural dependencies between GO terms in GO graph by not considering the concept of existence dependency. We propose in this paper a biological search engine called RSGSearch that identifies enriched sets of genes annotated with different functions using the concept of existence dependency. We observe that GO term xcannot be existence-dependent on GO term y, if x- and y- have the same specificity (biological characteristics). After encoding into a numeric format the contributions of GO terms annotating target genes to the semantics of their lowest common ancestors (LCAs), RSGSearch uses microarray experiment to identify the most significant LCA that annotates the result genes. We evaluated RSGSearch experimentally and compared it with five gene set enrichment systems. Results showed marked improvement.