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Sample records for distal cis-regulatory elements

  1. Redundancy and the evolution of cis-regulatory element multiplicity.

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    Tiago Paixão

    Full Text Available The promoter regions of many genes contain multiple binding sites for the same transcription factor (TF. One possibility is that this multiplicity evolved through transitional forms showing redundant cis-regulation. To evaluate this hypothesis, we must disentangle the relative contributions of different evolutionary mechanisms to the evolution of binding site multiplicity. Here, we attempt to do this using a model of binding site evolution. Our model considers binding sequences and their interactions with TFs explicitly, and allows us to cast the evolution of gene networks into a neutral network framework. We then test some of the model's predictions using data from yeast. Analysis of the model suggested three candidate nonadaptive processes favoring the evolution of cis-regulatory element redundancy and multiplicity: neutral evolution in long promoters, recombination and TF promiscuity. We find that recombination rate is positively associated with binding site multiplicity in yeast. Our model also indicated that weak direct selection for multiplicity (partial redundancy can play a major role in organisms with large populations. Our data suggest that selection for changes in gene expression level may have contributed to the evolution of multiple binding sites in yeast. We conclude that the evolution of cis-regulatory element redundancy and multiplicity is impacted by many aspects of the biology of an organism: both adaptive and nonadaptive processes, both changes in cis to binding sites and in trans to the TFs that interact with them, both the functional setting of the promoter and the population genetic context of the individuals carrying them.

  2. Changes in Cis-regulatory Elements during Morphological Evolution

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    Yu-Lee Paul

    2012-10-01

    Full Text Available How have animals evolved new body designs (morphological evolution? This requires explanations both for simple morphological changes, such as differences in pigmentation and hair patterns between different Drosophila populations and species, and also for more complex changes, such as differences in the forelimbs of mice and bats, and the necks of amphibians and reptiles. The genetic changes and pathways involved in these evolutionary steps require identification. Many, though not all, of these events occur by changes in cis-regulatory (enhancer elements within developmental genes. Enhancers are modular, each affecting expression in only one or a few tissues. Therefore it is possible to add, remove or alter an enhancer without producing changes in multiple tissues, and thereby avoid widespread (pleiotropic deleterious effects. Ideally, for a given step in morphological evolution it is necessary to identify (i the change in phenotype, (ii the changes in gene expression, (iii the DNA region, enhancer or otherwise, affected, (iv the mutation involved, (v the nature of the transcription or other factors that bind to this site. In practice these data are incomplete for most of the published studies upon morphological evolution. Here, the investigations are categorized according to how far these analyses have proceeded.

  3. Cis-regulatory elements in the primate brain: from functional specialization to neurodegeneration

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    Vermunt, Marit W.

    2017-01-01

    Over the last decade, the noncoding part of the genome has been shown to harbour thousands of cis-regulatory elements, such as enhancers, that activate well-defined gene expression programs. Here, we charted active enhancers in a multiplicity of human brain regions to understand the role of

  4. Evolution of Cis-Regulatory Elements and Regulatory Networks in Duplicated Genes of Arabidopsis.

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    Arsovski, Andrej A; Pradinuk, Julian; Guo, Xu Qiu; Wang, Sishuo; Adams, Keith L

    2015-12-01

    Plant genomes contain large numbers of duplicated genes that contribute to the evolution of new functions. Following duplication, genes can exhibit divergence in their coding sequence and their expression patterns. Changes in the cis-regulatory element landscape can result in changes in gene expression patterns. High-throughput methods developed recently can identify potential cis-regulatory elements on a genome-wide scale. Here, we use a recent comprehensive data set of DNase I sequencing-identified cis-regulatory binding sites (footprints) at single-base-pair resolution to compare binding sites and network connectivity in duplicated gene pairs in Arabidopsis (Arabidopsis thaliana). We found that duplicated gene pairs vary greatly in their cis-regulatory element architecture, resulting in changes in regulatory network connectivity. Whole-genome duplicates (WGDs) have approximately twice as many footprints in their promoters left by potential regulatory proteins than do tandem duplicates (TDs). The WGDs have a greater average number of footprint differences between paralogs than TDs. The footprints, in turn, result in more regulatory network connections between WGDs and other genes, forming denser, more complex regulatory networks than shown by TDs. When comparing regulatory connections between duplicates, WGDs had more pairs in which the two genes are either partially or fully diverged in their network connections, but fewer genes with no network connections than the TDs. There is evidence of younger TDs and WGDs having fewer unique connections compared with older duplicates. This study provides insights into cis-regulatory element evolution and network divergence in duplicated genes. © 2015 American Society of Plant Biologists. All Rights Reserved.

  5. Dynamic SPR monitoring of yeast nuclear protein binding to a cis-regulatory element

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    Mao, Grace; Brody, James P.

    2007-01-01

    Gene expression is controlled by protein complexes binding to short specific sequences of DNA, called cis-regulatory elements. Expression of most eukaryotic genes is controlled by dozens of these elements. Comprehensive identification and monitoring of these elements is a major goal of genomics. In pursuit of this goal, we are developing a surface plasmon resonance (SPR) based assay to identify and monitor cis-regulatory elements. To test whether we could reliably monitor protein binding to a regulatory element, we immobilized a 16 bp region of Saccharomyces cerevisiae chromosome 5 onto a gold surface. This 16 bp region of DNA is known to bind several proteins and thought to control expression of the gene RNR1, which varies through the cell cycle. We synchronized yeast cell cultures, and then sampled these cultures at a regular interval. These samples were processed to purify nuclear lysate, which was then exposed to the sensor. We found that nuclear protein binds this particular element of DNA at a significantly higher rate (as compared to unsynchronized cells) during G1 phase. Other time points show levels of DNA-nuclear protein binding similar to the unsynchronized control. We also measured the apparent association complex of the binding to be 0.014 s -1 . We conclude that (1) SPR-based assays can monitor DNA-nuclear protein binding and that (2) for this particular cis-regulatory element, maximum DNA-nuclear protein binding occurs during G1 phase

  6. Bounded search for de novo identification of degenerate cis-regulatory elements

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    Khetani Radhika S

    2006-05-01

    Full Text Available Abstract Background The identification of statistically overrepresented sequences in the upstream regions of coregulated genes should theoretically permit the identification of potential cis-regulatory elements. However, in practice many cis-regulatory elements are highly degenerate, precluding the use of an exhaustive word-counting strategy for their identification. While numerous methods exist for inferring base distributions using a position weight matrix, recent studies suggest that the independence assumptions inherent in the model, as well as the inability to reach a global optimum, limit this approach. Results In this paper, we report PRISM, a degenerate motif finder that leverages the relationship between the statistical significance of a set of binding sites and that of the individual binding sites. PRISM first identifies overrepresented, non-degenerate consensus motifs, then iteratively relaxes each one into a high-scoring degenerate motif. This approach requires no tunable parameters, thereby lending itself to unbiased performance comparisons. We therefore compare PRISM's performance against nine popular motif finders on 28 well-characterized S. cerevisiae regulons. PRISM consistently outperforms all other programs. Finally, we use PRISM to predict the binding sites of uncharacterized regulons. Our results support a proposed mechanism of action for the yeast cell-cycle transcription factor Stb1, whose binding site has not been determined experimentally. Conclusion The relationship between statistical measures of the binding sites and the set as a whole leads to a simple means of identifying the diverse range of cis-regulatory elements to which a protein binds. This approach leverages the advantages of word-counting, in that position dependencies are implicitly accounted for and local optima are more easily avoided. While we sacrifice guaranteed optimality to prevent the exponential blowup of exhaustive search, we prove that the error

  7. Identification of putative cis-regulatory elements in Cryptosporidium parvum by de novo pattern finding

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    Kissinger Jessica C

    2007-01-01

    Full Text Available Abstract Background Cryptosporidium parvum is a unicellular eukaryote in the phylum Apicomplexa. It is an obligate intracellular parasite that causes diarrhea and is a significant AIDS-related pathogen. Cryptosporidium parvum is not amenable to long-term laboratory cultivation or classical molecular genetic analysis. The parasite exhibits a complex life cycle, a broad host range, and fundamental mechanisms of gene regulation remain unknown. We have used data from the recently sequenced genome of this organism to uncover clues about gene regulation in C. parvum. We have applied two pattern finding algorithms MEME and AlignACE to identify conserved, over-represented motifs in the 5' upstream regions of genes in C. parvum. To support our findings, we have established comparative real-time -PCR expression profiles for the groups of genes examined computationally. Results We find that groups of genes that share a function or belong to a common pathway share upstream motifs. Different motifs are conserved upstream of different groups of genes. Comparative real-time PCR studies show co-expression of genes within each group (in sub-sets during the life cycle of the parasite, suggesting co-regulation of these genes may be driven by the use of conserved upstream motifs. Conclusion This is one of the first attempts to characterize cis-regulatory elements in the absence of any previously characterized elements and with very limited expression data (seven genes only. Using de novo pattern finding algorithms, we have identified specific DNA motifs that are conserved upstream of genes belonging to the same metabolic pathway or gene family. We have demonstrated the co-expression of these genes (often in subsets using comparative real-time-PCR experiments thus establishing evidence for these conserved motifs as putative cis-regulatory elements. Given the lack of prior information concerning expression patterns and organization of promoters in C. parvum we

  8. Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.

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    Verdin, Hannah; Fernández-Miñán, Ana; Benito-Sanz, Sara; Janssens, Sandra; Callewaert, Bert; De Waele, Kathleen; De Schepper, Jean; François, Inge; Menten, Björn; Heath, Karen E; Gómez-Skarmeta, José Luis; De Baere, Elfride

    2015-12-03

    Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease. An example of this is the short stature homeobox (SHOX) gene, regulated by seven CNEs located downstream and upstream of SHOX, with proven enhancer capacity in chicken limbs. CNVs of the downstream CNEs have been reported in many idiopathic short stature (ISS) cases, however, only recently have a few CNVs of the upstream enhancers been identified. Here, we set out to provide insight into: (i) the cis-regulatory role of these upstream CNEs in human cells, (ii) the prevalence of upstream CNVs in ISS, and (iii) the chromatin architecture of the SHOX cis-regulatory landscape in chicken and human cells. Firstly, luciferase assays in human U2OS cells, and 4C-seq both in chicken limb buds and human U2OS cells, demonstrated cis-regulatory enhancer capacities of the upstream CNEs. Secondly, CNVs of these upstream CNEs were found in three of 501 ISS patients. Finally, our 4C-seq interaction map of the SHOX region reveals a cis-regulatory domain spanning more than 1 Mb and harbouring putative new cis-regulatory elements.

  9. Lessons from Domestication: Targeting Cis-Regulatory Elements for Crop Improvement.

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    Swinnen, Gwen; Goossens, Alain; Pauwels, Laurens

    2016-06-01

    Domestication of wild plant species has provided us with crops that serve our human nutritional needs. Advanced DNA sequencing has propelled the unveiling of underlying genetic changes associated with domestication. Interestingly, many changes reside in cis-regulatory elements (CREs) that control the expression of an unmodified coding sequence. Sequence variation in CREs can impact gene expression levels, but also developmental timing and tissue specificity of expression. When genes are involved in multiple pathways or active in several organs and developmental stages CRE modifications are favored in contrast to mutations in coding regions, due to the lack of detrimental pleiotropic effects. Therefore, learning from domestication, we propose that CREs are interesting targets for genome editing to create new alleles for plant breeding. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Identification of a novel cis-regulatory element essential for immune tolerance

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    LaFlam, Taylor N.; Seumois, Grégory; Miller, Corey N.; Lwin, Wint; Fasano, Kayla J.; Waterfield, Michael; Proekt, Irina; Vijayanand, Pandurangan

    2015-01-01

    Thymic central tolerance is essential to preventing autoimmunity. In medullary thymic epithelial cells (mTECs), the Autoimmune regulator (Aire) gene plays an essential role in this process by driving the expression of a diverse set of tissue-specific antigens (TSAs), which are presented and help tolerize self-reactive thymocytes. Interestingly, Aire has a highly tissue-restricted pattern of expression, with only mTECs and peripheral extrathymic Aire-expressing cells (eTACs) known to express detectable levels in adults. Despite this high level of tissue specificity, the cis-regulatory elements that control Aire expression have remained obscure. Here, we identify a highly conserved noncoding DNA element that is essential for Aire expression. This element shows enrichment of enhancer-associated histone marks in mTECs and also has characteristics of being an NF-κB-responsive element. Finally, we find that this element is essential for Aire expression in vivo and necessary to prevent spontaneous autoimmunity, reflecting the importance of this regulatory DNA element in promoting immune tolerance. PMID:26527800

  11. Distinct functional constraints partition sequence conservation in a cis-regulatory element.

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    Antoine Barrière

    2011-06-01

    Full Text Available Different functional constraints contribute to different evolutionary rates across genomes. To understand why some sequences evolve faster than others in a single cis-regulatory locus, we investigated function and evolutionary dynamics of the promoter of the Caenorhabditis elegans unc-47 gene. We found that this promoter consists of two distinct domains. The proximal promoter is conserved and is largely sufficient to direct appropriate spatial expression. The distal promoter displays little if any conservation between several closely related nematodes. Despite this divergence, sequences from all species confer robustness of expression, arguing that this function does not require substantial sequence conservation. We showed that even unrelated sequences have the ability to promote robust expression. A prominent feature shared by all of these robustness-promoting sequences is an AT-enriched nucleotide composition consistent with nucleosome depletion. Because general sequence composition can be maintained despite sequence turnover, our results explain how different functional constraints can lead to vastly disparate rates of sequence divergence within a promoter.

  12. Putative cis-regulatory elements associated with heat shock genes activated during excystation of Cryptosporidium parvum.

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    Benjamin Cohn

    Full Text Available BACKGROUND: Cryptosporidiosis is a ubiquitous infectious disease, caused by the protozoan parasites Cryptosporidium hominis and C. parvum, leading to acute, persistent and chronic diarrhea worldwide. Although the complications of this disease can be serious, even fatal, in immunocompromised patients of any age, they have also been found to lead to long term effects, including growth inhibition and impaired cognitive development, in infected immunocompetent children. The Cryptosporidium life cycle alternates between a dormant stage, the oocyst, and a highly replicative phase that includes both asexual vegetative stages as well as sexual stages, implying fine genetic regulatory mechanisms. The parasite is extremely difficult to study because it cannot be cultured in vitro and animal models are equally challenging. The recent publication of the genome sequence of C. hominis and C. parvum has, however, significantly advanced our understanding of the biology and pathogenesis of this parasite. METHODOLOGY/PRINCIPAL FINDINGS: Herein, our goal was to identify cis-regulatory elements associated with heat shock response in Cryptosporidium using a combination of in silico and real time RT-PCR strategies. Analysis with Gibbs-Sampling algorithms of upstream non-translated regions of twelve genes annotated as heat shock proteins in the Cryptosporidium genome identified a highly conserved over-represented sequence motif in eleven of them. RT-PCR analyses, described herein and also by others, show that these eleven genes bearing the putative element are induced concurrent with excystation of parasite oocysts via heat shock. CONCLUSIONS/SIGNIFICANCE: Our analyses suggest that occurrences of a motif identified in the upstream regions of the Cryptosporidium heat shock genes represent parts of the transcriptional apparatus and function as stress response elements that activate expression of these genes during excystation, and possibly at other stages in the life

  13. Putative cis-regulatory elements in genes highly expressed in rice sperm cells

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    Singh Mohan B

    2011-09-01

    Full Text Available Abstract Background The male germ line in flowering plants is initiated within developing pollen grains via asymmetric division. The smaller cell then becomes totally encased within a much larger vegetative cell, forming a unique "cell within a cell structure". The generative cell subsequently divides to give rise to two non-motile diminutive sperm cells, which take part in double fertilization and lead to the seed set. Sperm cells are difficult to investigate because of their presence within the confines of the larger vegetative cell. However, recently developed techniques for the isolation of rice sperm cells and the fully annotated rice genome sequence have allowed for the characterization of the transcriptional repertoire of sperm cells. Microarray gene expression data has identified a subset of rice genes that show unique or highly preferential expression in sperm cells. This information has led to the identification of cis-regulatory elements (CREs, which are conserved in sperm-expressed genes and are putatively associated with the control of cell-specific expression. Findings We aimed to identify the CREs associated with rice sperm cell-specific gene expression data using in silico prediction tools. We analyzed 1-kb upstream regions of the top 40 sperm cell co-expressed genes for over-represented conserved and novel motifs. Analysis of upstream regions with the SIGNALSCAN program with the PLACE database, MEME and the Mclip tool helped to find combinatorial sets of known transcriptional factor-binding sites along with two novel motifs putatively associated with the co-expression of sperm cell-specific genes. Conclusions Our data shows the occurrence of novel motifs, which are putative CREs and are likely targets of transcriptional factors regulating sperm cell gene expression. These motifs can be used to design the experimental verification of regulatory elements and the identification of transcriptional factors that regulate sperm cell

  14. Changes in cis-regulatory elements of a key floral regulator are associated with divergence of inflorescence architectures.

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    Kusters, Elske; Della Pina, Serena; Castel, Rob; Souer, Erik; Koes, Ronald

    2015-08-15

    Higher plant species diverged extensively with regard to the moment (flowering time) and position (inflorescence architecture) at which flowers are formed. This seems largely caused by variation in the expression patterns of conserved genes that specify floral meristem identity (FMI), rather than changes in the encoded proteins. Here, we report a functional comparison of the promoters of homologous FMI genes from Arabidopsis, petunia, tomato and Antirrhinum. Analysis of promoter-reporter constructs in petunia and Arabidopsis, as well as complementation experiments, showed that the divergent expression of leafy (LFY) and the petunia homolog aberrant leaf and flower (ALF) results from alterations in the upstream regulatory network rather than cis-regulatory changes. The divergent expression of unusual floral organs (UFO) from Arabidopsis, and the petunia homolog double top (DOT), however, is caused by the loss or gain of cis-regulatory promoter elements, which respond to trans-acting factors that are expressed in similar patterns in both species. Introduction of pUFO:UFO causes no obvious defects in Arabidopsis, but in petunia it causes the precocious and ectopic formation of flowers. This provides an example of how a change in a cis-regulatory region can account for a change in the plant body plan. © 2015. Published by The Company of Biologists Ltd.

  15. Implications of duplicated cis-regulatory elements in the evolution of metazoans: the DDI model or how simplicity begets novelty.

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    Jiménez-Delgado, Senda; Pascual-Anaya, Juan; Garcia-Fernàndez, Jordi

    2009-07-01

    The discovery that most regulatory genes were conserved among animals from distant phyla challenged the ideas that gene duplication and divergence of homologous coding sequences were the basis for major morphological changes in metazoan evolution. In recent years, however, the interest for the roles, conservation and changes of non-coding sequences grew-up in parallel with genome sequencing projects. Presently, many independent studies are highlighting the importance that subtle changes in cis-regulatory regions had in the evolution of morphology trough the Animal Kingdom. Here we will show and discuss some of these studies, and underscore the future of cis-Evo-Devo research. Nevertheless, we would also explore how gene duplication, which includes duplication of regulatory regions, may have been critical for spatial or temporal co-option of new regulatory networks, causing the deployment of new transcriptome scenarios, and how these induced morphological changes were critical for the evolution of new forms. Forty years after Susumu Ohno famous sentence 'natural selection merely modifies, while redundancy creates', we suggest the alternative: 'natural selection modifies, while redundancy of cis-regulatory elements innovates', and propose the Duplication-Degeneration-Innovation model to explain the increased evolvability of duplicated cis-regulatory regions. Paradoxically, making regulation simpler by subfunctionalization paved the path for future complexity or, in other words, 'to make it simple to make it complex'.

  16. Identification of a cis-regulatory element by transient analysis of co-ordinately regulated genes

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    Allan Andrew C

    2008-07-01

    Full Text Available Abstract Background Transcription factors (TFs co-ordinately regulate target genes that are dispersed throughout the genome. This co-ordinate regulation is achieved, in part, through the interaction of transcription factors with conserved cis-regulatory motifs that are in close proximity to the target genes. While much is known about the families of transcription factors that regulate gene expression in plants, there are few well characterised cis-regulatory motifs. In Arabidopsis, over-expression of the MYB transcription factor PAP1 (PRODUCTION OF ANTHOCYANIN PIGMENT 1 leads to transgenic plants with elevated anthocyanin levels due to the co-ordinated up-regulation of genes in the anthocyanin biosynthetic pathway. In addition to the anthocyanin biosynthetic genes, there are a number of un-associated genes that also change in expression level. This may be a direct or indirect consequence of the over-expression of PAP1. Results Oligo array analysis of PAP1 over-expression Arabidopsis plants identified genes co-ordinately up-regulated in response to the elevated expression of this transcription factor. Transient assays on the promoter regions of 33 of these up-regulated genes identified eight promoter fragments that were transactivated by PAP1. Bioinformatic analysis on these promoters revealed a common cis-regulatory motif that we showed is required for PAP1 dependent transactivation. Conclusion Co-ordinated gene regulation by individual transcription factors is a complex collection of both direct and indirect effects. Transient transactivation assays provide a rapid method to identify direct target genes from indirect target genes. Bioinformatic analysis of the promoters of these direct target genes is able to locate motifs that are common to this sub-set of promoters, which is impossible to identify with the larger set of direct and indirect target genes. While this type of analysis does not prove a direct interaction between protein and DNA

  17. Identification of cis-regulatory elements specific for different types of reactive oxygen species in Arabidopsis thaliana.

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    Petrov, Veselin; Vermeirssen, Vanessa; De Clercq, Inge; Van Breusegem, Frank; Minkov, Ivan; Vandepoele, Klaas; Gechev, Tsanko S

    2012-05-10

    The type of reactive oxygen species (ROS) is a major factor that determines the specificity of biological responses. These responses may be elicited by activation of transcription factors that recognize ROS-specific cis-regulatory elements in target genes. In search for Arabidopsis promoter motifs specific for particular types of ROS, genome-wide microarray expression profiles for 283 abiotic stress-related conditions were subjected to cluster analysis to identify gene groups induced by singlet oxygen, superoxide radicals, and H(2)O(2). Promoters of these gene groups were analyzed to identify cis-regulatory elements that are associated with specific types of ROS. Eleven ROS-specific de novo identified elements, seven known promoter motifs and several sequences enriched in ROS-responsive clusters but lacking in specificity are reported. The conservation of the identified motifs was determined in orthologous genes in C. papaya, V. vinifera and P. trichocarpa. Finally, biological functions were attributed to the motifs by calculation of GO-term enrichment for genes with conserved ROS-responsive elements. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. Multiple cis-regulatory elements are involved in the complex regulation of the sieve element-specific MtSEO-F1 promoter from Medicago truncatula.

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    Bucsenez, M; Rüping, B; Behrens, S; Twyman, R M; Noll, G A; Prüfer, D

    2012-09-01

    The sieve element occlusion (SEO) gene family includes several members that are expressed specifically in immature sieve elements (SEs) in the developing phloem of dicotyledonous plants. To determine how this restricted expression profile is achieved, we analysed the SE-specific Medicago truncatula SEO-F1 promoter (PMtSEO-F1) by constructing deletion, substitution and hybrid constructs and testing them in transgenic tobacco plants using green fluorescent protein as a reporter. This revealed four promoter regions, each containing cis-regulatory elements that activate transcription in SEs. One of these segments also contained sufficient information to suppress PMtSEO-F1 transcription in the phloem companion cells (CCs). Subsequent in silico analysis revealed several candidate cis-regulatory elements that PMtSEO-F1 shares with other SEO promoters. These putative sieve element boxes (PSE boxes) are promising candidates for cis-regulatory elements controlling the SE-specific expression of PMtSEO-F1. © 2012 German Botanical Society and The Royal Botanical Society of the Netherlands.

  19. A novel test for selection on cis-regulatory elements reveals positive and negative selection acting on mammalian transcriptional enhancers.

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    Smith, Justin D; McManus, Kimberly F; Fraser, Hunter B

    2013-11-01

    Measuring natural selection on genomic elements involved in the cis-regulation of gene expression--such as transcriptional enhancers and promoters--is critical for understanding the evolution of genomes, yet it remains a major challenge. Many studies have attempted to detect positive or negative selection in these noncoding elements by searching for those with the fastest or slowest rates of evolution, but this can be problematic. Here, we introduce a new approach to this issue, and demonstrate its utility on three mammalian transcriptional enhancers. Using results from saturation mutagenesis studies of these enhancers, we classified all possible point mutations as upregulating, downregulating, or silent, and determined which of these mutations have occurred on each branch of a phylogeny. Applying a framework analogous to Ka/Ks in protein-coding genes, we measured the strength of selection on upregulating and downregulating mutations, in specific branches as well as entire phylogenies. We discovered distinct modes of selection acting on different enhancers: although all three have experienced negative selection against downregulating mutations, the selection pressures on upregulating mutations vary. In one case, we detected positive selection for upregulation, whereas the other two had no detectable selection on upregulating mutations. Our methodology is applicable to the growing number of saturation mutagenesis data sets, and provides a detailed picture of the mode and strength of natural selection acting on cis-regulatory elements.

  20. Evaluation of combinatorial cis-regulatory elements for stable gene expression in chicken cells

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    Seo Hee W

    2010-09-01

    Full Text Available Abstract Background Recent successes in biotechnological application of birds are based on their unique physiological traits such as unlimited manipulability onto developing embryos and simple protein constituents of the eggs. However it is not likely that target protein is produced as kinetically expected because various factors affect target gene expression. Although there have been various attempts to minimize the silencing of transgenes, a generalized study that uses multiple cis-acting elements in chicken has not been made. The aim of the present study was to analyze whether various cis-acting elements can help to sustain transgene expression in chicken fibroblasts. Results We investigated the optimal transcriptional regulatory elements for enhancing stable transgene expression in chicken cells. We generated eight constructs that encode enhanced green fluorescent protein (eGFP driven by either CMV or CAG promoters (including the control, containing three types of key regulatory elements: a chicken lysozyme matrix attachment region (cMAR, 5'-DNase I-hypersensitive sites 4 (cHS4, and the woodchuck hepatitis virus posttranscriptional regulatory element (WPRE. Then we transformed immortalized chicken embryonic fibroblasts with these constructs by electroporation, and after cells were expanded under G418 selection, analyzed mRNA levels and mean fluorescence intensity (MFI by quantitative real-time PCR and flow cytometry, respectively. We found that the copy number of each construct significantly decreased as the size of the construct increased (R2 = 0.701. A significant model effect was found in the expression level among various constructs in both mRNA and protein (P cis-acting elements decreased the level of gene silencing as well as the coefficient of variance of eGFP-expressing cells (P Conclusions Our current data show that an optimal combination of cis-acting elements and promoters/enhancers for sustaining gene expression in chicken cells

  1. Housekeeping and tissue-specific cis-regulatory elements: Recipes for specificity and recipes for activity.

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    Russo, Marta; Natoli, Gioacchino; Ghisletti, Serena

    2017-10-09

    Cell type-specific and housekeeping enhancers and promoters collectively control the transcriptional output of mammalian cells. Recent data clarify how DNA sequence features on the one hand control functional coupling of promoters with selected enhancers, and on the other impart high level of activity to a broad range of regulatory elements.

  2. An arthropod cis-regulatory element functioning in sensory organ precursor development dates back to the Cambrian

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    Simpson Pat

    2010-09-01

    Full Text Available Abstract Background An increasing number of publications demonstrate conservation of function of cis-regulatory elements without sequence similarity. In invertebrates such functional conservation has only been shown for closely related species. Here we demonstrate the existence of an ancient arthropod regulatory element that functions during the selection of neural precursors. The activity of genes of the achaete-scute (ac-sc family endows cells with neural potential. An essential, conserved characteristic of proneural genes is their ability to restrict their own activity to single or a small number of progenitor cells from their initially broad domains of expression. This is achieved through a process called lateral inhibition. A regulatory element, the sensory organ precursor enhancer (SOPE, is required for this process. First identified in Drosophila, the SOPE contains discrete binding sites for four regulatory factors. The SOPE of the Drosophila asense gene is situated in the 5' UTR. Results Through a manual comparison of consensus binding site sequences we have been able to identify a SOPE in UTR sequences of asense-like genes in species belonging to all four arthropod groups (Crustacea, Myriapoda, Chelicerata and Insecta. The SOPEs of the spider Cupiennius salei and the insect Tribolium castaneum are shown to be functional in transgenic Drosophila. This would place the origin of this regulatory sequence as far back as the last common ancestor of the Arthropoda, that is, in the Cambrian, 550 million years ago. Conclusions The SOPE is not detectable by inter-specific sequence comparison, raising the possibility that other ancient regulatory modules in invertebrates might have escaped detection.

  3. SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.

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    Smyk, Marta; Akdemir, Kadir Caner; Stankiewicz, Paweł

    2017-03-04

    Evolutionary conserved transcription factor SOX9, encoded by the dosage sensitive SOX9 gene on chromosome 17q24.3, plays an important role in development of multiple organs, including bones and testes. Heterozygous point mutations and genomic copy-number variant (CNV) deletions involving SOX9 have been reported in patients with campomelic dysplasia (CD), a skeletal malformation syndrome often associated with male-to-female sex reversal. Balanced and unbalanced structural genomic variants with breakpoints mapping up to 1.3 Mb up- and downstream to SOX9 have been described in patients with milder phenotypes, including acampomelic campomelic dysplasia, sex reversal, and Pierre Robin sequence. Based on the localization of breakpoints of genomic rearrangements causing different phenotypes, 5 genomic intervals mapping upstream to SOX9 have been defined. We have analyzed the publically available database of high-throughput chromosome conformation capture (Hi-C) in multiple cell lines in the genomic regions flanking SOX9. Consistent with the literature data, chromatin domain boundaries in the SOX9 locus exhibit conservation across species and remain largely constant across multiple cell types. Interestingly, we have found that chromatin folding domains in the SOX9 locus associate with the genomic intervals harboring real and putative regulatory elements of SOX9, implicating that variation in intra-domain interactions may be critical for dynamic regulation of SOX9 expression in a cell type-specific fashion. We propose that tissue-specific enhancers for other transcription factor genes may similarly utilize chromatin folding sub-domains in gene regulation.

  4. Nomadic enhancers: tissue-specific cis-regulatory elements of yellow have divergent genomic positions among Drosophila species.

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    Gizem Kalay

    2010-11-01

    Full Text Available cis-regulatory DNA sequences known as enhancers control gene expression in space and time. They are central to metazoan development and are often responsible for changes in gene regulation that contribute to phenotypic evolution. Here, we examine the sequence, function, and genomic location of enhancers controlling tissue- and cell-type specific expression of the yellow gene in six Drosophila species. yellow is required for the production of dark pigment, and its expression has evolved largely in concert with divergent pigment patterns. Using Drosophila melanogaster as a transgenic host, we examined the expression of reporter genes in which either 5' intergenic or intronic sequences of yellow from each species controlled the expression of Green Fluorescent Protein. Surprisingly, we found that sequences controlling expression in the wing veins, as well as sequences controlling expression in epidermal cells of the abdomen, thorax, and wing, were located in different genomic regions in different species. By contrast, sequences controlling expression in bristle-associated cells were located in the intron of all species. Differences in the precise pattern of spatial expression within the developing epidermis of D. melanogaster transformants usually correlated with adult pigmentation in the species from which the cis-regulatory sequences were derived, which is consistent with cis-regulatory evolution affecting yellow expression playing a central role in Drosophila pigmentation divergence. Sequence comparisons among species favored a model in which sequential nucleotide substitutions were responsible for the observed changes in cis-regulatory architecture. Taken together, these data demonstrate frequent changes in yellow cis-regulatory architecture among Drosophila species. Similar analyses of other genes, combining in vivo functional tests of enhancer activity with in silico comparative genomics, are needed to determine whether the pattern of

  5. Functional and Comparative Genomics of Hoxa2 Gene cis-Regulatory Elements: Evidence for Evolutionary Modification of Ancestral Core Element Activity.

    Science.gov (United States)

    Davis, Adam; Reubens, Michael C; Stellwag, Edmund J

    2016-03-26

    Hoxa2 is an evolutionarily conserved developmental regulatory gene that functions to specify rhombomere (r) and pharyngeal arch (PA) identities throughout the Osteichthyes. Japanese medaka ( Oryzias latipes ) hoxa2a, like orthologous Hoxa2 genes from other osteichthyans, is expressed during embryogenesis in r2-7 and PA2-7, whereas the paralogous medaka pseudogene, ψhoxa2b , is expressed in noncanonical Hoxa2 domains, including the pectoral fin buds. To understand the evolution of cis -regulatory element (CRE) control of gene expression, we conducted eGFP reporter gene expression studies with extensive functional mapping of several conserved CREs upstream of medaka hoxa2a and ψhoxa2b in transient and stable-line transgenic medaka embryos. The CREs tested were previously shown to contribute to directing mouse Hoxa2 gene expression in r3, r5, and PA2-4. Our results reveal the presence of sequence elements embedded in the medaka hoxa2a and ψhoxa2b upstream enhancer regions (UERs) that mediate expression in r4 and the PAs ( hoxa2a r4/CNCC element) or in r3-7 and the PAs ψhoxa2b r3-7/CNCC element), respectively. Further, these elements were shown to be highly conserved among osteichthyans, which suggests that the r4 specifying element embedded in the UER of Hoxa2 is a deeply rooted rhombomere specifying element and the activity of this element has been modified by the evolution of flanking sequences that redirect its activity to alternative developmental compartments.

  6. Functional and Comparative Genomics of Hoxa2 Gene cis-Regulatory Elements: Evidence for Evolutionary Modification of Ancestral Core Element Activity

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    Adam Davis

    2016-03-01

    Full Text Available Hoxa2 is an evolutionarily conserved developmental regulatory gene that functions to specify rhombomere (r and pharyngeal arch (PA identities throughout the Osteichthyes. Japanese medaka (Oryzias latipes hoxa2a, like orthologous Hoxa2 genes from other osteichthyans, is expressed during embryogenesis in r2–7 and PA2-7, whereas the paralogous medaka pseudogene, ψhoxa2b, is expressed in noncanonical Hoxa2 domains, including the pectoral fin buds. To understand the evolution of cis-regulatory element (CRE control of gene expression, we conducted eGFP reporter gene expression studies with extensive functional mapping of several conserved CREs upstream of medaka hoxa2a and ψhoxa2b in transient and stable-line transgenic medaka embryos. The CREs tested were previously shown to contribute to directing mouse Hoxa2 gene expression in r3, r5, and PA2-4. Our results reveal the presence of sequence elements embedded in the medaka hoxa2a and ψhoxa2b upstream enhancer regions (UERs that mediate expression in r4 and the PAs (hoxa2a r4/CNCC element or in r3–7 and the PAs ψhoxa2b r3–7/CNCC element, respectively. Further, these elements were shown to be highly conserved among osteichthyans, which suggests that the r4 specifying element embedded in the UER of Hoxa2 is a deeply rooted rhombomere specifying element and the activity of this element has been modified by the evolution of flanking sequences that redirect its activity to alternative developmental compartments.

  7. Identification of a new cis-regulatory element of the terminal deoxynucleotidyl transferase gene in the 5' region of the murine locus.

    Science.gov (United States)

    Cherrier, Marie; D'Andon, Martine Fanton; Rougeon, François; Doyen, Noëlle

    2008-02-01

    Terminal deoxynucleotidyl transferase (TdT) expression is controlled at the transcriptional level, however, the TdT core promoter combining D, D', an initiator (Inr) and downstream basal elements (DBE) does not recapitulate the whole complex regulation of TdT expression. We hypothesized that important cis-regulatory elements of the gene are located outside of the TdT promoter. In an attempt to identify these elements, we performed DNase I hypersensitivity assays over 24kb including a 10kb region located upstream of the transcription start site (+1) and a 14kb region spanning exons and introns I to VI. Hypersensitive sites (HS) HS1 and HS2 were localized 8.5 and 8kb upstream of the transcription start site, respectively, and were exclusively detected in TdT+ cell types. HS3, HS4 and HS5 were mapped at positions -7, -3.4 and -3kb, respectively, and detected in both TdT negative and positive cells. HS6, HS7 and HS8 were detected immediately upstream of the TdT promoter. HS10 and HS11 were localized in the first and third intron of the gene. Luciferase reporter assays revealed that HS1, HS2 and HS3 synergize with the TdT promoter to activate transcription in a TdT+ pre-T cell line but not in a TdT+ pro-B cell line. In summary novel cis-regulatory elements have been identified in the 5' region of the TdT locus that synergize with the promoter to activate gene expression and our results suggest these elements may be more active in T cells.

  8. Functional dissection of the promoter of the pollen-specific gene NTP303 reveals a novel pollen-specific, and conserved cis-regulatory element.

    Science.gov (United States)

    Weterings, K; Schrauwen, J; Wullems, G; Twell, D

    1995-07-01

    Regulatory elements within the promoter of the pollen-specific NTP303 gene from tobacco were analysed by transient and stable expression analyses. Analysis of precisely targeted mutations showed that the NTP303 promoter is not regulated by any of the previously described pollen-specific cis-regulatory elements. However, two adjacent regions from -103 to -86 bp and from -86 to -59 bp were shown to contain sequences which positively regulated the NTP303 promoter. Both of these regions were capable of driving pollen-specific expression from a heterologous promoter, independent of orientation and in an additive manner. The boundaries of the minimal, functional NTP303 promoter were determined to lie within the region -86 to -51 bp. The sequence AAATGA localized from -94 to -89 bp was identified as a novel cis-acting element, of which the TGA triplet was shown to comprise an active part. This element was shown to be completely conserved in the similarly regulated promoter of the Bp 10 gene from Brassica napus encoding a homologue of the NTP303 gene.

  9. Integrative modeling of eQTLs and cis-regulatory elements suggests mechanisms underlying cell type specificity of eQTLs.

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    Christopher D Brown

    Full Text Available Genetic variants in cis-regulatory elements or trans-acting regulators frequently influence the quantity and spatiotemporal distribution of gene transcription. Recent interest in expression quantitative trait locus (eQTL mapping has paralleled the adoption of genome-wide association studies (GWAS for the analysis of complex traits and disease in humans. Under the hypothesis that many GWAS associations tag non-coding SNPs with small effects, and that these SNPs exert phenotypic control by modifying gene expression, it has become common to interpret GWAS associations using eQTL data. To fully exploit the mechanistic interpretability of eQTL-GWAS comparisons, an improved understanding of the genetic architecture and causal mechanisms of cell type specificity of eQTLs is required. We address this need by performing an eQTL analysis in three parts: first we identified eQTLs from eleven studies on seven cell types; then we integrated eQTL data with cis-regulatory element (CRE data from the ENCODE project; finally we built a set of classifiers to predict the cell type specificity of eQTLs. The cell type specificity of eQTLs is associated with eQTL SNP overlap with hundreds of cell type specific CRE classes, including enhancer, promoter, and repressive chromatin marks, regions of open chromatin, and many classes of DNA binding proteins. These associations provide insight into the molecular mechanisms generating the cell type specificity of eQTLs and the mode of regulation of corresponding eQTLs. Using a random forest classifier with cell specific CRE-SNP overlap as features, we demonstrate the feasibility of predicting the cell type specificity of eQTLs. We then demonstrate that CREs from a trait-associated cell type can be used to annotate GWAS associations in the absence of eQTL data for that cell type. We anticipate that such integrative, predictive modeling of cell specificity will improve our ability to understand the mechanistic basis of human

  10. Distinct cis regulatory elements govern the expression of TAG1 in embryonic sensory ganglia and spinal cord.

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    Yoav Hadas

    Full Text Available Cell fate commitment of spinal progenitor neurons is initiated by long-range, midline-derived, morphogens that regulate an array of transcription factors that, in turn, act sequentially or in parallel to control neuronal differentiation. Included among these are transcription factors that regulate the expression of receptors for guidance cues, thereby determining axonal trajectories. The Ig/FNIII superfamily molecules TAG1/Axonin1/CNTN2 (TAG1 and Neurofascin (Nfasc are co-expressed in numerous neuronal cell types in the CNS and PNS - for example motor, DRG and interneurons - both promote neurite outgrowth and both are required for the architecture and function of nodes of Ranvier. The genes encoding TAG1 and Nfasc are adjacent in the genome, an arrangement which is evolutionarily conserved. To study the transcriptional network that governs TAG1 and Nfasc expression in spinal motor and commissural neurons, we set out to identify cis elements that regulate their expression. Two evolutionarily conserved DNA modules, one located between the Nfasc and TAG1 genes and the second directly 5' to the first exon and encompassing the first intron of TAG1, were identified that direct complementary expression to the CNS and PNS, respectively, of the embryonic hindbrain and spinal cord. Sequential deletions and point mutations of the CNS enhancer element revealed a 130bp element containing three conserved E-boxes required for motor neuron expression. In combination, these two elements appear to recapitulate a major part of the pattern of TAG1 expression in the embryonic nervous system.

  11. PlantPAN: Plant promoter analysis navigator, for identifying combinatorial cis-regulatory elements with distance constraint in plant gene groups

    Directory of Open Access Journals (Sweden)

    Huang Hsien-Da

    2008-11-01

    Full Text Available Abstract Background The elucidation of transcriptional regulation in plant genes is important area of research for plant scientists, following the mapping of various plant genomes, such as A. thaliana, O. sativa and Z. mays. A variety of bioinformatic servers or databases of plant promoters have been established, although most have been focused only on annotating transcription factor binding sites in a single gene and have neglected some important regulatory elements (tandem repeats and CpG/CpNpG islands in promoter regions. Additionally, the combinatorial interaction of transcription factors (TFs is important in regulating the gene group that is associated with the same expression pattern. Therefore, a tool for detecting the co-regulation of transcription factors in a group of gene promoters is required. Results This study develops a database-assisted system, PlantPAN (Plant Promoter Analysis Navigator, for recognizing combinatorial cis-regulatory elements with a distance constraint in sets of plant genes. The system collects the plant transcription factor binding profiles from PLACE, TRANSFAC (public release 7.0, AGRIS, and JASPER databases and allows users to input a group of gene IDs or promoter sequences, enabling the co-occurrence of combinatorial transcription factor binding sites (TFBSs within a defined distance (20 bp to 200 bp to be identified. Furthermore, the new resource enables other regulatory features in a plant promoter, such as CpG/CpNpG islands and tandem repeats, to be displayed. The regulatory elements in the conserved regions of the promoters across homologous genes are detected and presented. Conclusion In addition to providing a user-friendly input/output interface, PlantPAN has numerous advantages in the analysis of a plant promoter. Several case studies have established the effectiveness of PlantPAN. This novel analytical resource is now freely available at http://PlantPAN.mbc.nctu.edu.tw.

  12. Identification of Predictive Cis-Regulatory Elements Using a Discriminative Objective Function and a Dynamic Search Space.

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    Rahul Karnik

    Full Text Available The generation of genomic binding or accessibility data from massively parallel sequencing technologies such as ChIP-seq and DNase-seq continues to accelerate. Yet state-of-the-art computational approaches for the identification of DNA binding motifs often yield motifs of weak predictive power. Here we present a novel computational algorithm called MotifSpec, designed to find predictive motifs, in contrast to over-represented sequence elements. The key distinguishing feature of this algorithm is that it uses a dynamic search space and a learned threshold to find discriminative motifs in combination with the modeling of motifs using a full PWM (position weight matrix rather than k-mer words or regular expressions. We demonstrate that our approach finds motifs corresponding to known binding specificities in several mammalian ChIP-seq datasets, and that our PWMs classify the ChIP-seq signals with accuracy comparable to, or marginally better than motifs from the best existing algorithms. In other datasets, our algorithm identifies novel motifs where other methods fail. Finally, we apply this algorithm to detect motifs from expression datasets in C. elegans using a dynamic expression similarity metric rather than fixed expression clusters, and find novel predictive motifs.

  13. Developmentally Regulated Recruitment of Transcription Factors and Chromatin Modification Activities to Chicken Lysozyme cis-Regulatory Elements In Vivo

    Science.gov (United States)

    Lefevre, Pascal; Melnik, Svitlana; Wilson, Nicola; Riggs, Arthur D.; Bonifer, Constanze

    2003-01-01

    Expression of the chicken lysozyme gene is upregulated during macrophage differentiation and reaches its highest level in bacterial lipopolysaccharide (LPS)-stimulated macrophages. This is accompanied by complex alterations in chromatin structure. We have previously shown that chromatin fine-structure alterations precede the onset of gene expression in macrophage precursor cells and mark the lysozyme chromatin domain for expression later in development. To further examine this phenomenon and to investigate the basis for the differentiation-dependent alterations of lysozyme chromatin, we studied the recruitment of transcription factors to the lysozyme locus in vivo at different stages of myeloid differentiation. Factor recruitment occurred in several steps. First, early-acting transcription factors such as NF1 and Fli-1 bound to a subset of enhancer elements and recruited CREB-binding protein. LPS stimulation led to an additional recruitment of C/EBPβ and a significant change in enhancer and promoter structure. Transcription factor recruitment was accompanied by specific changes in histone modification within the lysozyme chromatin domain. Interestingly, we present evidence for a transient interaction of transcription factors with lysozyme chromatin in lysozyme-nonexpressing macrophage precursors, which was accompanied by a partial demethylation of CpG sites. This indicates that a partially accessible chromatin structure of lineage-specific genes is a hallmark of hematopoietic progenitor cells. PMID:12773578

  14. A novel Cd8-cis-regulatory element preferentially directs expression in CD44hiCD62L+ CD8+ T cells and in CD8αα+ dendritic cells.

    Science.gov (United States)

    Sakaguchi, Shinya; Hombauer, Matthias; Hassan, Hammad; Tanaka, Hirokazu; Yasmin, Nighat; Naoe, Yoshinori; Bilic, Ivan; Moser, Mirjam A; Hainberger, Daniela; Mayer, Herbert; Seiser, Christian; Bergthaler, Andreas; Taniuchi, Ichiro; Ellmeier, Wilfried

    2015-04-01

    CD8 coreceptor expression is dynamically regulated during thymocyte development and is tightly controlled by the activity of at least 5 different cis-regulatory elements. Despite the detailed characterization of the Cd8 loci, the regulation of the complex expression pattern of CD8 cannot be fully explained by the activity of the known Cd8 enhancers. In this study, we revisited the Cd8ab gene complex with bioinformatics and transgenic reporter gene expression approaches to search for additional Cd8 cis-regulatory elements. This led to the identification of an ECR (ECR-4), which in transgenic reporter gene expression assays, directed expression preferentially in CD44(hi)CD62L(+) CD8(+) T cells, including innate-like CD8(+) T cells. ECR-4, designated as Cd8 enhancer E8VI, was bound by Runx/CBFβ complexes and Bcl11b, indicating that E8VI is part of the cis-regulatory network that recruits transcription factors to the Cd8ab gene complex in CD8(+) T cells. Transgenic reporter expression was maintained in LCMV-specific CD8(+) T cells upon infection, although short-term, in vitro activation led to a down-regulation of E8VI activity. Finally, E8VI directed transgene expression also in CD8αα(+) DCs but not in CD8αα-expressing IELs. Taken together, we have identified a novel Cd8 enhancer that directs expression in CD44(hi)CD62L(+) CD8(+) T cells, including innate-like and antigen-specific effector/memory CD8(+) T cells and in CD8αα(+) DCs, and thus, our data provide further insight into the cis-regulatory networks that control CD8 expression. © Society for Leukocyte Biology.

  15. Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon.

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    Xiang Zhang

    2009-01-01

    Full Text Available Alpha-methylacyl-coenzyme A racemase (AMACR regulates peroxisomal beta-oxidation of phytol-derived, branched-chain fatty acids from red meat and dairy products -- suspected risk factors for colon carcinoma (CCa. AMACR was first found overexpressed in prostate cancer but not in benign glands and is now an established diagnostic marker for prostate cancer. Aberrant expression of AMACR was recently reported in Cca; however, little is known about how this gene is abnormally activated in cancer. By using a panel of immunostained-laser-capture-microdissected clinical samples comprising the entire colon adenoma-carcinoma sequence, we show that deregulation of AMACR during colon carcinogenesis involves two nonrandom events, resulting in the mutually exclusive existence of double-deletion at CG3 and CG10 and deletion of CG12-16 in a newly identified CpG island within the core promoter of AMACR. The double-deletion at CG3 and CG10 was found to be a somatic lesion. It existed in histologically normal colonic glands and tubular adenomas with low AMACR expression and was absent in villous adenomas and all CCas expressing variable levels of AMACR. In contrast, deletion of CG12-16 was shown to be a constitutional allele with a frequency of 43% in a general population. Its prevalence reached 89% in moderately differentiated CCas strongly expressing AMACR but only existed at 14% in poorly differentiated CCas expressing little or no AMACR. The DNA sequences housing these deletions were found to be putative cis-regulatory elements for Sp1 at CG3 and CG10, and ZNF202 at CG12-16. Chromatin immunoprecipitation, siRNA knockdown, gel shift assay, ectopic expression, and promoter analyses supported the regulation by Sp1 and ZNF202 of AMACR gene expression in an opposite manner. Our findings identified key in vivo events and novel transcription factors responsible for AMACR regulation in CCas and suggested these AMACR deletions may have diagnostic/prognostic value for

  16. A cis-regulatory signature for chordate anterior neuroectodermal genes.

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    Maximilian Haeussler

    2010-04-01

    Full Text Available One of the striking findings of comparative developmental genetics was that expression patterns of core transcription factors are extraordinarily conserved in bilaterians. However, it remains unclear whether cis-regulatory elements of their target genes also exhibit common signatures associated with conserved embryonic fields. To address this question, we focused on genes that are active in the anterior neuroectoderm and non-neural ectoderm of the ascidian Ciona intestinalis. Following the dissection of a prototypic anterior placodal enhancer, we searched all genomic conserved non-coding elements for duplicated motifs around genes showing anterior neuroectodermal expression. Strikingly, we identified an over-represented pentamer motif corresponding to the binding site of the homeodomain protein OTX, which plays a pivotal role in the anterior development of all bilaterian species. Using an in vivo reporter gene assay, we observed that 10 of 23 candidate cis-regulatory elements containing duplicated OTX motifs are active in the anterior neuroectoderm, thus showing that this cis-regulatory signature is predictive of neuroectodermal enhancers. These results show that a common cis-regulatory signature corresponding to K50-Paired homeodomain transcription factors is found in non-coding sequences flanking anterior neuroectodermal genes in chordate embryos. Thus, field-specific selector genes impose architectural constraints in the form of combinations of short tags on their target enhancers. This could account for the strong evolutionary conservation of the regulatory elements controlling field-specific selector genes responsible for body plan formation.

  17. A universal algorithm for genome-wide in silicio identification of biologically significant gene promoter putative cis-regulatory-elements; identification of new elements for reactive oxygen species and sucrose signaling in Arabidopsis.

    Science.gov (United States)

    Geisler, Matt; Kleczkowski, Leszek A; Karpinski, Stanislaw

    2006-02-01

    Short motifs of many cis-regulatory elements (CREs) can be found in the promoters of most Arabidopsis genes, and this raises the question of how their presence can confer specific regulation. We developed a universal algorithm to test the biological significance of CREs by first identifying every Arabidopsis gene with a CRE and then statistically correlating the presence or absence of the element with the gene expression profile on multiple DNA microarrays. This algorithm was successfully verified for previously characterized abscisic acid, ethylene, sucrose and drought responsive CREs in Arabidopsis, showing that the presence of these elements indeed correlates with treatment-specific gene induction. Later, we used standard motif sampling methods to identify 128 putative motifs induced by excess light, reactive oxygen species and sucrose. Our algorithm was able to filter 20 out of 128 novel CREs which significantly correlated with gene induction by either heat, reactive oxygen species and/or sucrose. The position, orientation and sequence specificity of CREs was tested in silicio by analyzing the expression of genes with naturally occurring sequence variations. In three novel CREs the forward orientation correlated with sucrose induction and the reverse orientation with sucrose suppression. The functionality of the predicted novel CREs was experimentally confirmed using Arabidopsis cell-suspension cultures transformed with short promoter fragments or artificial promoters fused with the GUS reporter gene. Our genome-wide analysis opens up new possibilities for in silicio verification of the biological significance of newly discovered CREs, and allows for subsequent selection of such CREs for experimental studies.

  18. cis-Regulatory Circuits Regulating NEK6 Kinase Overexpression in Transformed B Cells Are Super-Enhancer Independent

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    Yue Huang

    2017-03-01

    Full Text Available Alterations in distal regulatory elements that control gene expression underlie many diseases, including cancer. Epigenomic analyses of normal and diseased cells have produced correlative predictions for connections between dysregulated enhancers and target genes involved in pathogenesis. However, with few exceptions, these predicted cis-regulatory circuits remain untested. Here, we dissect cis-regulatory circuits that lead to overexpression of NEK6, a mitosis-associated kinase, in human B cell lymphoma. We find that only a minor subset of predicted enhancers is required for NEK6 expression. Indeed, an annotated super-enhancer is dispensable for NEK6 overexpression and for maintaining the architecture of a B cell-specific regulatory hub. A CTCF cluster serves as a chromatin and architectural boundary to block communication of the NEK6 regulatory hub with neighboring genes. Our findings emphasize that validation of predicted cis-regulatory circuits and super-enhancers is needed to prioritize transcriptional control elements as therapeutic targets.

  19. Two potential hookworm DAF-16 target genes, SNR-3 and LPP-1: gene structure, expression profile, and implications of a cis-regulatory element in the regulation of gene expression.

    Science.gov (United States)

    Gao, Xin; Goggin, Kevin; Dowling, Camille; Qian, Jason; Hawdon, John M

    2015-01-08

    Hookworms infect nearly 700 million people, causing anemia and developmental stunting in heavy infections. Little is known about the genomic structure or gene regulation in hookworms, although recent publication of draft genome assemblies has allowed the first investigations of these topics to be undertaken. The transcription factor DAF-16 mediates multiple developmental pathways in the free living nematode Caenorhabditis elegans, and is involved in the recovery from the developmentally arrested L3 in hookworms. Identification of downstream targets of DAF-16 will provide a better understanding of the molecular mechanism of hookworm infection. Genomic Fragment 2.23 containing a DAF-16 binding element (DBE) was used to identify overlapping complementary expressed sequence tags (ESTs). These sequences were used to search a draft assembly of the Ancylostoma caninum genome, and identified two neighboring genes, snr-3 and lpp-1, in a tail-to-tail orientation. Expression patterns of both genes during parasitic development were determined by qRT-PCR. DAF-16 dependent cis-regulatory activity of fragment 2.23 was investigated using an in vitro reporter system. The snr-3 gene spans approximately 5.6 kb in the genome and contains 3 exons and 2 introns, and contains the DBE in its 3' untranslated region. Downstream from snr-3 in a tail-to-tail arrangement is the gene lpp-1. The lpp-1 gene spans more than 6 kb and contains 10 exons and 9 introns. The A. caninum genome contains 2 apparent splice variants, but there are 7 splice variants in the A. ceylanicum genome. While the gene order is similar, the gene structures of the hookworm genes differ from their C. elegans orthologs. Both genes show peak expression in the late L4 stage. Using a cell culture based expression system, fragment 2.23 was found to have both DAF-16-dependent promoter and enhancer activity that required an intact DBE. Two putative DAF-16 targets were identified by genome wide screening for DAF-16 binding

  20. Autoregulatory Feedback Controls Sequential Action of cis-Regulatory Modules at the brinker Locus

    Science.gov (United States)

    Dunipace, Leslie; Saunders, Abbie; Ashe, Hilary L.; Stathopoulos, Angelike

    2013-01-01

    Summary cis-regulatory modules (CRMs) act sequentially to regulate temporal expression of genes, but how the switch from one to the next is accomplished is not well understood. To provide insight, here we investigate the cis-regulatory system controlling brinker (brk) expression in the Drosophila embryo. Two distally located CRMs support expression at different times, while a promoter-proximal element (PPE) is required to support their action. In the absence of Brk protein itself or upon mutagenesis of Brk binding sites within the PPE, the late-acting CRM, specifically, is delayed. This block to late-acting CRM function appears to be removed when the early-acting CRM is also deleted. These results demonstrate that autoregulatory feedback is necessary for the early-acting CRM to disengage from the promoter so that the late-acting CRM may act. Autoregulation may be a commonly used mechanism to control sequential CRM action necessary for dynamic gene expression throughout the course of development. PMID:24044892

  1. Statistical significance of cis-regulatory modules

    Directory of Open Access Journals (Sweden)

    Smith Andrew D

    2007-01-01

    Full Text Available Abstract Background It is becoming increasingly important for researchers to be able to scan through large genomic regions for transcription factor binding sites or clusters of binding sites forming cis-regulatory modules. Correspondingly, there has been a push to develop algorithms for the rapid detection and assessment of cis-regulatory modules. While various algorithms for this purpose have been introduced, most are not well suited for rapid, genome scale scanning. Results We introduce methods designed for the detection and statistical evaluation of cis-regulatory modules, modeled as either clusters of individual binding sites or as combinations of sites with constrained organization. In order to determine the statistical significance of module sites, we first need a method to determine the statistical significance of single transcription factor binding site matches. We introduce a straightforward method of estimating the statistical significance of single site matches using a database of known promoters to produce data structures that can be used to estimate p-values for binding site matches. We next introduce a technique to calculate the statistical significance of the arrangement of binding sites within a module using a max-gap model. If the module scanned for has defined organizational parameters, the probability of the module is corrected to account for organizational constraints. The statistical significance of single site matches and the architecture of sites within the module can be combined to provide an overall estimation of statistical significance of cis-regulatory module sites. Conclusion The methods introduced in this paper allow for the detection and statistical evaluation of single transcription factor binding sites and cis-regulatory modules. The features described are implemented in the Search Tool for Occurrences of Regulatory Motifs (STORM and MODSTORM software.

  2. Identification and characterization of promoters and cis-regulatory elements of genes involved in secondary metabolites production in hop (Humulus lupulus. L)

    Czech Academy of Sciences Publication Activity Database

    Duraisamy, Ganesh Selvaraj; Mishra, Ajay Kumar; Kocábek, Tomáš; Matoušek, Jaroslav

    2016-01-01

    Roč. 84, October (2016), s. 346-352 ISSN 1476-9271 R&D Projects: GA ČR GA13-03037S Institutional support: RVO:60077344 Keywords : Cis-acting elements * Gene regulation * Humulus lupulus Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.331, year: 2016

  3. ChIP-Seq-Annotated Heliconius erato Genome Highlights Patterns of cis-Regulatory Evolution in Lepidoptera

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    James J. Lewis

    2016-09-01

    Full Text Available Uncovering phylogenetic patterns of cis-regulatory evolution remains a fundamental goal for evolutionary and developmental biology. Here, we characterize the evolution of regulatory loci in butterflies and moths using chromatin immunoprecipitation sequencing (ChIP-seq annotation of regulatory elements across three stages of head development. In the process we provide a high-quality, functionally annotated genome assembly for the butterfly, Heliconius erato. Comparing cis-regulatory element conservation across six lepidopteran genomes, we find that regulatory sequences evolve at a pace similar to that of protein-coding regions. We also observe that elements active at multiple developmental stages are markedly more conserved than elements with stage-specific activity. Surprisingly, we also find that stage-specific proximal and distal regulatory elements evolve at nearly identical rates. Our study provides a benchmark for genome-wide patterns of regulatory element evolution in insects, and it shows that developmental timing of activity strongly predicts patterns of regulatory sequence evolution.

  4. Overview Article: Identifying transcriptional cis-regulatory modules in animal genomes

    Science.gov (United States)

    Suryamohan, Kushal; Halfon, Marc S.

    2014-01-01

    Gene expression is regulated through the activity of transcription factors and chromatin modifying proteins acting on specific DNA sequences, referred to as cis-regulatory elements. These include promoters, located at the transcription initiation sites of genes, and a variety of distal cis-regulatory modules (CRMs), the most common of which are transcriptional enhancers. Because regulated gene expression is fundamental to cell differentiation and acquisition of new cell fates, identifying, characterizing, and understanding the mechanisms of action of CRMs is critical for understanding development. CRM discovery has historically been challenging, as CRMs can be located far from the genes they regulate, have few readily-identifiable sequence characteristics, and for many years were not amenable to high-throughput discovery methods. However, the recent availability of complete genome sequences and the development of next-generation sequencing methods has led to an explosion of both computational and empirical methods for CRM discovery in model and non-model organisms alike. Experimentally, CRMs can be identified through chromatin immunoprecipitation directed against transcription factors or histone post-translational modifications, identification of nucleosome-depleted “open” chromatin regions, or sequencing-based high-throughput functional screening. Computational methods include comparative genomics, clustering of known or predicted transcription factor binding sites, and supervised machine-learning approaches trained on known CRMs. All of these methods have proven effective for CRM discovery, but each has its own considerations and limitations, and each is subject to a greater or lesser number of false-positive identifications. Experimental confirmation of predictions is essential, although shortcomings in current methods suggest that additional means of validation need to be developed. PMID:25704908

  5. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

    DEFF Research Database (Denmark)

    Farooq, Muhammad; Troelsen, Jesper T; Boyd, Mette

    2010-01-01

    A cis-regulatory sequence also known as zone of polarizing activity (ZPA) regulatory sequence (ZRS) located in intron 5 of LMBR1 is essential for expression of sonic hedgehog (SHH) in the developing posterior limb bud mesenchyme. Even though many point mutations causing preaxial duplication defects...... demonstrated a marked difference between wild-type and the mutant probe, which uniquely bound one or several transcription factors extracted from Caco-2 cells. This finding supports a model in which ectopic anterior SHH expression in the developing limb results from abnormal binding of one or more...

  6. CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors

    NARCIS (Netherlands)

    J.C. Corbo (Joseph); K.A. Lawrence (Karen); M. Karlstetter (Marcus); C.A. Myers (Connie); M. Abdelaziz (Musa); W. Dirkes (William); K. Weigelt (Karin); M. Seifert (Martin); V. Benes (Vladimir); L.G. Fritsche (Lars); B.H.F. Weber (Bernhard); T. Langmann (Thomas)

    2010-01-01

    textabstractApproximately 98% of mammalian DNA is noncoding, yet we understand relatively little about the function of this enigmatic portion of the genome. The cis-regulatory elements that control gene expression reside in noncoding regions and can be identified by mapping the binding sites of

  7. Using hexamers to predict cis-regulatory motifs in Drosophila

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    Kibler Dennis

    2005-10-01

    Full Text Available Abstract Background Cis-regulatory modules (CRMs are short stretches of DNA that help regulate gene expression in higher eukaryotes. They have been found up to 1 megabase away from the genes they regulate and can be located upstream, downstream, and even within their target genes. Due to the difficulty of finding CRMs using biological and computational techniques, even well-studied regulatory systems may contain CRMs that have not yet been discovered. Results We present a simple, efficient method (HexDiff based only on hexamer frequencies of known CRMs and non-CRM sequence to predict novel CRMs in regulatory systems. On a data set of 16 gap and pair-rule genes containing 52 known CRMs, predictions made by HexDiff had a higher correlation with the known CRMs than several existing CRM prediction algorithms: Ahab, Cluster Buster, MSCAN, MCAST, and LWF. After combining the results of the different algorithms, 10 putative CRMs were identified and are strong candidates for future study. The hexamers used by HexDiff to distinguish between CRMs and non-CRM sequence were also analyzed and were shown to be enriched in regulatory elements. Conclusion HexDiff provides an efficient and effective means for finding new CRMs based on known CRMs, rather than known binding sites.

  8. Conserved cis-regulatory regions in a large genomic landscape control SHH and BMP-regulated Gremlin1 expression in mouse limb buds

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    Zuniga Aimée

    2012-08-01

    Full Text Available Abstract Background Mouse limb bud is a prime model to study the regulatory interactions that control vertebrate organogenesis. Major aspects of limb bud development are controlled by feedback loops that define a self-regulatory signalling system. The SHH/GREM1/AER-FGF feedback loop forms the core of this signalling system that operates between the posterior mesenchymal organiser and the ectodermal signalling centre. The BMP antagonist Gremlin1 (GREM1 is a critical node in this system, whose dynamic expression is controlled by BMP, SHH, and FGF signalling and key to normal progression of limb bud development. Previous analysis identified a distant cis-regulatory landscape within the neighbouring Formin1 (Fmn1 locus that is required for Grem1 expression, reminiscent of the genomic landscapes controlling HoxD and Shh expression in limb buds. Results Three highly conserved regions (HMCO1-3 were identified within the previously defined critical genomic region and tested for their ability to regulate Grem1 expression in mouse limb buds. Using a combination of BAC and conventional transgenic approaches, a 9 kb region located ~70 kb downstream of the Grem1 transcription unit was identified. This region, termed Grem1 Regulatory Sequence 1 (GRS1, is able to recapitulate major aspects of Grem1 expression, as it drives expression of a LacZ reporter into the posterior and, to a lesser extent, in the distal-anterior mesenchyme. Crossing the GRS1 transgene into embryos with alterations in the SHH and BMP pathways established that GRS1 depends on SHH and is modulated by BMP signalling, i.e. integrates inputs from these pathways. Chromatin immunoprecipitation revealed interaction of endogenous GLI3 proteins with the core cis-regulatory elements in the GRS1 region. As GLI3 is a mediator of SHH signal transduction, these results indicated that SHH directly controls Grem1 expression through the GRS1 region. Finally, all cis-regulatory regions within the Grem1

  9. Divergence in cis-regulatory sequences surrounding the opsin gene arrays of African cichlid fishes

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    Streelman J Todd

    2011-05-01

    Full Text Available Abstract Background Divergence within cis-regulatory sequences may contribute to the adaptive evolution of gene expression, but functional alleles in these regions are difficult to identify without abundant genomic resources. Among African cichlid fishes, the differential expression of seven opsin genes has produced adaptive differences in visual sensitivity. Quantitative genetic analysis suggests that cis-regulatory alleles near the SWS2-LWS opsins may contribute to this variation. Here, we sequence BACs containing the opsin genes of two cichlids, Oreochromis niloticus and Metriaclima zebra. We use phylogenetic footprinting and shadowing to examine divergence in conserved non-coding elements, promoter sequences, and 3'-UTRs surrounding each opsin in search of candidate cis-regulatory sequences that influence cichlid opsin expression. Results We identified 20 conserved non-coding elements surrounding the opsins of cichlids and other teleosts, including one known enhancer and a retinal microRNA. Most conserved elements contained computationally-predicted binding sites that correspond to transcription factors that function in vertebrate opsin expression; O. niloticus and M. zebra were significantly divergent in two of these. Similarly, we found a large number of relevant transcription factor binding sites within each opsin's proximal promoter, and identified five opsins that were considerably divergent in both expression and the number of transcription factor binding sites shared between O. niloticus and M. zebra. We also found several microRNA target sites within the 3'-UTR of each opsin, including two 3'-UTRs that differ significantly between O. niloticus and M. zebra. Finally, we examined interspecific divergence among 18 phenotypically diverse cichlids from Lake Malawi for one conserved non-coding element, two 3'-UTRs, and five opsin proximal promoters. We found that all regions were highly conserved with some evidence of CRX transcription

  10. Exonic remnants of whole-genome duplication reveal cis-regulatory function of coding exons.

    Science.gov (United States)

    Dong, Xianjun; Navratilova, Pavla; Fredman, David; Drivenes, Øyvind; Becker, Thomas S; Lenhard, Boris

    2010-03-01

    Using a comparative genomics approach to reconstruct the fate of genomic regulatory blocks (GRBs) and identify exonic remnants that have survived the disappearance of their host genes after whole-genome duplication (WGD) in teleosts, we discover a set of 38 candidate cis-regulatory coding exons (RCEs) with predicted target genes. These elements demonstrate evolutionary separation of overlapping protein-coding and regulatory information after WGD in teleosts. We present evidence that the corresponding mammalian exons are still under both coding and non-coding selection pressure, are more conserved than other protein coding exons in the host gene and several control sets, and share key characteristics with highly conserved non-coding elements in the same regions. Their dual function is corroborated by existing experimental data. Additionally, we show examples of human exon remnants stemming from the vertebrate 2R WGD. Our findings suggest that long-range cis-regulatory inputs for developmental genes are not limited to non-coding regions, but can also overlap the coding sequence of unrelated genes. Thus, exonic regulatory elements in GRBs might be functionally equivalent to those in non-coding regions, calling for a re-evaluation of the sequence space in which to look for long-range regulatory elements and experimentally test their activity.

  11. Complex interactions between cis-regulatory modules in native conformation are critical for Drosophila snail expression

    Science.gov (United States)

    Dunipace, Leslie; Ozdemir, Anil; Stathopoulos, Angelike

    2011-01-01

    It has been shown in several organisms that multiple cis-regulatory modules (CRMs) of a gene locus can be active concurrently to support similar spatiotemporal expression. To understand the functional importance of such seemingly redundant CRMs, we examined two CRMs from the Drosophila snail gene locus, which are both active in the ventral region of pre-gastrulation embryos. By performing a deletion series in a ∼25 kb DNA rescue construct using BAC recombineering and site-directed transgenesis, we demonstrate that the two CRMs are not redundant. The distal CRM is absolutely required for viability, whereas the proximal CRM is required only under extreme conditions such as high temperature. Consistent with their distinct requirements, the CRMs support distinct expression patterns: the proximal CRM exhibits an expanded expression domain relative to endogenous snail, whereas the distal CRM exhibits almost complete overlap with snail except at the anterior-most pole. We further show that the distal CRM normally limits the increased expression domain of the proximal CRM and that the proximal CRM serves as a `damper' for the expression levels driven by the distal CRM. Thus, the two CRMs interact in cis in a non-additive fashion and these interactions may be important for fine-tuning the domains and levels of gene expression. PMID:21813571

  12. Alignment and prediction of cis-regulatory modules based on a probabilistic model of evolution.

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    Xin He

    2009-03-01

    Full Text Available Cross-species comparison has emerged as a powerful paradigm for predicting cis-regulatory modules (CRMs and understanding their evolution. The comparison requires reliable sequence alignment, which remains a challenging task for less conserved noncoding sequences. Furthermore, the existing models of DNA sequence evolution generally do not explicitly treat the special properties of CRM sequences. To address these limitations, we propose a model of CRM evolution that captures different modes of evolution of functional transcription factor binding sites (TFBSs and the background sequences. A particularly novel aspect of our work is a probabilistic model of gains and losses of TFBSs, a process being recognized as an important part of regulatory sequence evolution. We present a computational framework that uses this model to solve the problems of CRM alignment and prediction. Our alignment method is similar to existing methods of statistical alignment but uses the conserved binding sites to improve alignment. Our CRM prediction method deals with the inherent uncertainties of binding site annotations and sequence alignment in a probabilistic framework. In simulated as well as real data, we demonstrate that our program is able to improve both alignment and prediction of CRM sequences over several state-of-the-art methods. Finally, we used alignments produced by our program to study binding site conservation in genome-wide binding data of key transcription factors in the Drosophila blastoderm, with two intriguing results: (i the factor-bound sequences are under strong evolutionary constraints even if their neighboring genes are not expressed in the blastoderm and (ii binding sites in distal bound sequences (relative to transcription start sites tend to be more conserved than those in proximal regions. Our approach is implemented as software, EMMA (Evolutionary Model-based cis-regulatory Module Analysis, ready to be applied in a broad biological context.

  13. Alignment and prediction of cis-regulatory modules based on a probabilistic model of evolution.

    Science.gov (United States)

    He, Xin; Ling, Xu; Sinha, Saurabh

    2009-03-01

    Cross-species comparison has emerged as a powerful paradigm for predicting cis-regulatory modules (CRMs) and understanding their evolution. The comparison requires reliable sequence alignment, which remains a challenging task for less conserved noncoding sequences. Furthermore, the existing models of DNA sequence evolution generally do not explicitly treat the special properties of CRM sequences. To address these limitations, we propose a model of CRM evolution that captures different modes of evolution of functional transcription factor binding sites (TFBSs) and the background sequences. A particularly novel aspect of our work is a probabilistic model of gains and losses of TFBSs, a process being recognized as an important part of regulatory sequence evolution. We present a computational framework that uses this model to solve the problems of CRM alignment and prediction. Our alignment method is similar to existing methods of statistical alignment but uses the conserved binding sites to improve alignment. Our CRM prediction method deals with the inherent uncertainties of binding site annotations and sequence alignment in a probabilistic framework. In simulated as well as real data, we demonstrate that our program is able to improve both alignment and prediction of CRM sequences over several state-of-the-art methods. Finally, we used alignments produced by our program to study binding site conservation in genome-wide binding data of key transcription factors in the Drosophila blastoderm, with two intriguing results: (i) the factor-bound sequences are under strong evolutionary constraints even if their neighboring genes are not expressed in the blastoderm and (ii) binding sites in distal bound sequences (relative to transcription start sites) tend to be more conserved than those in proximal regions. Our approach is implemented as software, EMMA (Evolutionary Model-based cis-regulatory Module Analysis), ready to be applied in a broad biological context.

  14. A primer on regression methods for decoding cis-regulatory logic

    Energy Technology Data Exchange (ETDEWEB)

    Das, Debopriya; Pellegrini, Matteo; Gray, Joe W.

    2009-03-03

    The rapidly emerging field of systems biology is helping us to understand the molecular determinants of phenotype on a genomic scale [1]. Cis-regulatory elements are major sequence-based determinants of biological processes in cells and tissues [2]. For instance, during transcriptional regulation, transcription factors (TFs) bind to very specific regions on the promoter DNA [2,3] and recruit the basal transcriptional machinery, which ultimately initiates mRNA transcription (Figure 1A). Learning cis-Regulatory Elements from Omics Data A vast amount of work over the past decade has shown that omics data can be used to learn cis-regulatory logic on a genome-wide scale [4-6]--in particular, by integrating sequence data with mRNA expression profiles. The most popular approach has been to identify over-represented motifs in promoters of genes that are coexpressed [4,7,8]. Though widely used, such an approach can be limiting for a variety of reasons. First, the combinatorial nature of gene regulation is difficult to explicitly model in this framework. Moreover, in many applications of this approach, expression data from multiple conditions are necessary to obtain reliable predictions. This can potentially limit the use of this method to only large data sets [9]. Although these methods can be adapted to analyze mRNA expression data from a pair of biological conditions, such comparisons are often confounded by the fact that primary and secondary response genes are clustered together--whereas only the primary response genes are expected to contain the functional motifs [10]. A set of approaches based on regression has been developed to overcome the above limitations [11-32]. These approaches have their foundations in certain biophysical aspects of gene regulation [26,33-35]. That is, the models are motivated by the expected transcriptional response of genes due to the binding of TFs to their promoters. While such methods have gathered popularity in the computational domain

  15. Evolution of New cis-Regulatory Motifs Required for Cell-Specific Gene Expression in Caenorhabditis.

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    Michalis Barkoulas

    2016-09-01

    Full Text Available Patterning of C. elegans vulval cell fates relies on inductive signaling. In this induction event, a single cell, the gonadal anchor cell, secretes LIN-3/EGF and induces three out of six competent precursor cells to acquire a vulval fate. We previously showed that this developmental system is robust to a four-fold variation in lin-3/EGF genetic dose. Here using single-molecule FISH, we find that the mean level of expression of lin-3 in the anchor cell is remarkably conserved. No change in lin-3 expression level could be detected among C. elegans wild isolates and only a low level of change-less than 30%-in the Caenorhabditis genus and in Oscheius tipulae. In C. elegans, lin-3 expression in the anchor cell is known to require three transcription factor binding sites, specifically two E-boxes and a nuclear-hormone-receptor (NHR binding site. Mutation of any of these three elements in C. elegans results in a dramatic decrease in lin-3 expression. Yet only a single E-box is found in the Drosophilae supergroup of Caenorhabditis species, including C. angaria, while the NHR-binding site likely only evolved at the base of the Elegans group. We find that a transgene from C. angaria bearing a single E-box is sufficient for normal expression in C. elegans. Even a short 58 bp cis-regulatory fragment from C. angaria with this single E-box is able to replace the three transcription factor binding sites at the endogenous C. elegans lin-3 locus, resulting in the wild-type expression level. Thus, regulatory evolution occurring in cis within a 58 bp lin-3 fragment, results in a strict requirement for the NHR binding site and a second E-box in C. elegans. This single-cell, single-molecule, quantitative and functional evo-devo study demonstrates that conserved expression levels can hide extensive change in cis-regulatory site requirements and highlights the evolution of new cis-regulatory elements required for cell-specific gene expression.

  16. A distal intergenic region controls pancreatic endocrine differentiation by acting as a transcriptional enhancer and as a polycomb response element.

    Directory of Open Access Journals (Sweden)

    Joris van Arensbergen

    Full Text Available Lineage-selective expression of developmental genes is dependent on the interplay between activating and repressive mechanisms. Gene activation is dependent on cell-specific transcription factors that recognize transcriptional enhancer sequences. Gene repression often depends on the recruitment of Polycomb group (PcG proteins, although the sequences that underlie the recruitment of PcG proteins, also known as Polycomb response elements (PREs, remain poorly understood in vertebrates. While distal PREs have been identified in mammals, a role for positive-acting enhancers in PcG-mediated repression has not been described. Here we have used a highly efficient procedure based on lentiviral-mediated transgenesis to carry out in vivo fine-mapping of, cis-regulatory sequences that control lineage-specific activation of Neurog3, a master regulator of pancreatic endocrine differentiation. Our findings reveal an enhancer region that is sufficient to drive correct spacio-temporal expression of Neurog3 and demonstrate that this same region serves as a PRE in alternative lineages where Neurog3 is inactive.

  17. MCAST: scanning for cis-regulatory motif clusters.

    Science.gov (United States)

    Grant, Charles E; Johnson, James; Bailey, Timothy L; Noble, William Stafford

    2016-04-15

    Precise regulatory control of genes, particularly in eukaryotes, frequently requires the joint action of multiple sequence-specific transcription factors. A cis-regulatory module (CRM) is a genomic locus that is responsible for gene regulation and that contains multiple transcription factor binding sites in close proximity. Given a collection of known transcription factor binding motifs, many bioinformatics methods have been proposed over the past 15 years for identifying within a genomic sequence candidate CRMs consisting of clusters of those motifs. The MCAST algorithm uses a hidden Markov model with a P-value-based scoring scheme to identify candidate CRMs. Here, we introduce a new version of MCAST that offers improved graphical output, a dynamic background model, statistical confidence estimates based on false discovery rate estimation and, most significantly, the ability to predict CRMs while taking into account epigenomic data such as DNase I sensitivity or histone modification data. We demonstrate the validity of MCAST's statistical confidence estimates and the utility of epigenomic priors in identifying CRMs. MCAST is part of the MEME Suite software toolkit. A web server and source code are available at http://meme-suite.org and http://alternate.meme-suite.org t.bailey@imb.uq.edu.au or william-noble@uw.edu Supplementary data are available at Bioinformatics online. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  18. Brachyury, Foxa2 and the cis-Regulatory Origins of the Notochord.

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    Diana S José-Edwards

    2015-12-01

    Full Text Available A main challenge of modern biology is to understand how specific constellations of genes are activated to differentiate cells and give rise to distinct tissues. This study focuses on elucidating how gene expression is initiated in the notochord, an axial structure that provides support and patterning signals to embryos of humans and all other chordates. Although numerous notochord genes have been identified, the regulatory DNAs that orchestrate development and propel evolution of this structure by eliciting notochord gene expression remain mostly uncharted, and the information on their configuration and recurrence is still quite fragmentary. Here we used the simple chordate Ciona for a systematic analysis of notochord cis-regulatory modules (CRMs, and investigated their composition, architectural constraints, predictive ability and evolutionary conservation. We found that most Ciona notochord CRMs relied upon variable combinations of binding sites for the transcription factors Brachyury and/or Foxa2, which can act either synergistically or independently from one another. Notably, one of these CRMs contains a Brachyury binding site juxtaposed to an (AC microsatellite, an unusual arrangement also found in Brachyury-bound regulatory regions in mouse. In contrast, different subsets of CRMs relied upon binding sites for transcription factors of widely diverse families. Surprisingly, we found that neither intra-genomic nor interspecific conservation of binding sites were reliably predictive hallmarks of notochord CRMs. We propose that rather than obeying a rigid sequence-based cis-regulatory code, most notochord CRMs are rather unique. Yet, this study uncovered essential elements recurrently used by divergent chordates as basic building blocks for notochord CRMs.

  19. The cis-regulatory logic of the mammalian photoreceptor transcriptional network.

    Science.gov (United States)

    Hsiau, Timothy H-C; Diaconu, Claudiu; Myers, Connie A; Lee, Jongwoo; Cepko, Constance L; Corbo, Joseph C

    2007-07-25

    The photoreceptor cells of the retina are subject to a greater number of genetic diseases than any other cell type in the human body. The majority of more than 120 cloned human blindness genes are highly expressed in photoreceptors. In order to establish an integrative framework in which to understand these diseases, we have undertaken an experimental and computational analysis of the network controlled by the mammalian photoreceptor transcription factors, Crx, Nrl, and Nr2e3. Using microarray and in situ hybridization datasets we have produced a model of this network which contains over 600 genes, including numerous retinal disease loci as well as previously uncharacterized photoreceptor transcription factors. To elucidate the connectivity of this network, we devised a computational algorithm to identify the photoreceptor-specific cis-regulatory elements (CREs) mediating the interactions between these transcription factors and their target genes. In vivo validation of our computational predictions resulted in the discovery of 19 novel photoreceptor-specific CREs near retinal disease genes. Examination of these CREs permitted the definition of a simple cis-regulatory grammar rule associated with high-level expression. To test the generality of this rule, we used an expanded form of it as a selection filter to evolve photoreceptor CREs from random DNA sequences in silico. When fused to fluorescent reporters, these evolved CREs drove strong, photoreceptor-specific expression in vivo. This study represents the first systematic identification and in vivo validation of CREs in a mammalian neuronal cell type and lays the groundwork for a systems biology of photoreceptor transcriptional regulation.

  20. The cis-regulatory logic of the mammalian photoreceptor transcriptional network.

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    Timothy H-C Hsiau

    2007-07-01

    Full Text Available The photoreceptor cells of the retina are subject to a greater number of genetic diseases than any other cell type in the human body. The majority of more than 120 cloned human blindness genes are highly expressed in photoreceptors. In order to establish an integrative framework in which to understand these diseases, we have undertaken an experimental and computational analysis of the network controlled by the mammalian photoreceptor transcription factors, Crx, Nrl, and Nr2e3. Using microarray and in situ hybridization datasets we have produced a model of this network which contains over 600 genes, including numerous retinal disease loci as well as previously uncharacterized photoreceptor transcription factors. To elucidate the connectivity of this network, we devised a computational algorithm to identify the photoreceptor-specific cis-regulatory elements (CREs mediating the interactions between these transcription factors and their target genes. In vivo validation of our computational predictions resulted in the discovery of 19 novel photoreceptor-specific CREs near retinal disease genes. Examination of these CREs permitted the definition of a simple cis-regulatory grammar rule associated with high-level expression. To test the generality of this rule, we used an expanded form of it as a selection filter to evolve photoreceptor CREs from random DNA sequences in silico. When fused to fluorescent reporters, these evolved CREs drove strong, photoreceptor-specific expression in vivo. This study represents the first systematic identification and in vivo validation of CREs in a mammalian neuronal cell type and lays the groundwork for a systems biology of photoreceptor transcriptional regulation.

  1. Brachyury, Foxa2 and the cis-Regulatory Origins of the Notochord.

    Science.gov (United States)

    José-Edwards, Diana S; Oda-Ishii, Izumi; Kugler, Jamie E; Passamaneck, Yale J; Katikala, Lavanya; Nibu, Yutaka; Di Gregorio, Anna

    2015-12-01

    A main challenge of modern biology is to understand how specific constellations of genes are activated to differentiate cells and give rise to distinct tissues. This study focuses on elucidating how gene expression is initiated in the notochord, an axial structure that provides support and patterning signals to embryos of humans and all other chordates. Although numerous notochord genes have been identified, the regulatory DNAs that orchestrate development and propel evolution of this structure by eliciting notochord gene expression remain mostly uncharted, and the information on their configuration and recurrence is still quite fragmentary. Here we used the simple chordate Ciona for a systematic analysis of notochord cis-regulatory modules (CRMs), and investigated their composition, architectural constraints, predictive ability and evolutionary conservation. We found that most Ciona notochord CRMs relied upon variable combinations of binding sites for the transcription factors Brachyury and/or Foxa2, which can act either synergistically or independently from one another. Notably, one of these CRMs contains a Brachyury binding site juxtaposed to an (AC) microsatellite, an unusual arrangement also found in Brachyury-bound regulatory regions in mouse. In contrast, different subsets of CRMs relied upon binding sites for transcription factors of widely diverse families. Surprisingly, we found that neither intra-genomic nor interspecific conservation of binding sites were reliably predictive hallmarks of notochord CRMs. We propose that rather than obeying a rigid sequence-based cis-regulatory code, most notochord CRMs are rather unique. Yet, this study uncovered essential elements recurrently used by divergent chordates as basic building blocks for notochord CRMs.

  2. PReMod: a database of genome-wide mammalian cis-regulatory module predictions.

    Science.gov (United States)

    Ferretti, Vincent; Poitras, Christian; Bergeron, Dominique; Coulombe, Benoit; Robert, François; Blanchette, Mathieu

    2007-01-01

    We describe PReMod, a new database of genome-wide cis-regulatory module (CRM) predictions for both the human and the mouse genomes. The prediction algorithm, described previously in Blanchette et al. (2006) Genome Res., 16, 656-668, exploits the fact that many known CRMs are made of clusters of phylogenetically conserved and repeated transcription factors (TF) binding sites. Contrary to other existing databases, PReMod is not restricted to modules located proximal to genes, but in fact mostly contains distal predicted CRMs (pCRMs). Through its web interface, PReMod allows users to (i) identify pCRMs around a gene of interest; (ii) identify pCRMs that have binding sites for a given TF (or a set of TFs) or (iii) download the entire dataset for local analyses. Queries can also be refined by filtering for specific chromosomal regions, for specific regions relative to genes or for the presence of CpG islands. The output includes information about the binding sites predicted within the selected pCRMs, and a graphical display of their distribution within the pCRMs. It also provides a visual depiction of the chromosomal context of the selected pCRMs in terms of neighboring pCRMs and genes, all of which are linked to the UCSC Genome Browser and the NCBI. PReMod: http://genomequebec.mcgill.ca/PReMod.

  3. Evidence for the role of transposons in the recruitment of cis-regulatory motifs during the evolution of C4 photosynthesis.

    Science.gov (United States)

    Cao, Chensi; Xu, Jiajia; Zheng, Guangyong; Zhu, Xin-Guang

    2016-03-08

    C4 photosynthesis evolved from C3 photosynthesis and has higher light, water, and nitrogen use efficiencies. Several C4 photosynthesis genes show cell-specific expression patterns, which are required for these high resource-use efficiencies. However, the mechanisms underlying the evolution of cis-regulatory elements that control these cell-specific expression patterns remain elusive. In the present study, we tested the hypothesis that the cis-regulatory motifs related to C4 photosynthesis genes were recruited from non-photosynthetic genes and further examined potential mechanisms facilitating this recruitment. We examined 65 predicted bundle sheath cell-specific motifs, 17 experimentally validated cell-specific cis-regulatory elements, and 1,034 motifs derived from gene regulatory networks. Approximately 7, 5, and 1,000 of these three categories of motifs, respectively, were apparently recruited during the evolution of C4 photosynthesis. In addition, we checked 1) the distance between the acceptors and the donors of potentially recruited motifs in a chromosome, and 2) whether the potentially recruited motifs reside within the overlapping region of transposable elements and the promoter of donor genes. The results showed that 7, 4, and 658 of the potentially recruited motifs might have moved via the transposable elements. Furthermore, the potentially recruited motifs showed higher binding affinity to transcription factors compared to randomly generated sequences of the same length as the motifs. This study provides molecular evidence supporting the hypothesis that transposon-driven recruitment of pre-existing cis-regulatory elements from non-photosynthetic genes into photosynthetic genes plays an important role during C4 evolution. The findings of the present study coincide with the observed repetitive emergence of C4 during evolution.

  4. Barcoded DNA-tag reporters for multiplex cis-regulatory analysis.

    Directory of Open Access Journals (Sweden)

    Jongmin Nam

    Full Text Available Cis-regulatory DNA sequences causally mediate patterns of gene expression, but efficient experimental analysis of these control systems has remained challenging. Here we develop a new version of "barcoded" DNA-tag reporters, "Nanotags" that permit simultaneous quantitative analysis of up to 130 distinct cis-regulatory modules (CRMs. The activities of these reporters are measured in single experiments by the NanoString RNA counting method and other quantitative procedures. We demonstrate the efficiency of the Nanotag method by simultaneously measuring hourly temporal activities of 126 CRMs from 46 genes in the developing sea urchin embryo, otherwise a virtually impossible task. Nanotags are also used in gene perturbation experiments to reveal cis-regulatory responses of many CRMs at once. Nanotag methodology can be applied to many research areas, ranging from gene regulatory networks to functional and evolutionary genomics.

  5. Prediction of tissue-specific cis-regulatory modules using Bayesian networks and regression trees

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    Chen Xiaoyu

    2007-12-01

    Full Text Available Abstract Background In vertebrates, a large part of gene transcriptional regulation is operated by cis-regulatory modules. These modules are believed to be regulating much of the tissue-specificity of gene expression. Results We develop a Bayesian network approach for identifying cis-regulatory modules likely to regulate tissue-specific expression. The network integrates predicted transcription factor binding site information, transcription factor expression data, and target gene expression data. At its core is a regression tree modeling the effect of combinations of transcription factors bound to a module. A new unsupervised EM-like algorithm is developed to learn the parameters of the network, including the regression tree structure. Conclusion Our approach is shown to accurately identify known human liver and erythroid-specific modules. When applied to the prediction of tissue-specific modules in 10 different tissues, the network predicts a number of important transcription factor combinations whose concerted binding is associated to specific expression.

  6. Proximity-based cis-regulatory module detection using constraint programming for itemset mining

    OpenAIRE

    Guns, Tias; Sun, Hong; Nijssen, Siegfried; Sanchez Rodriguez, Aminael; De Raedt, Luc; Marchal, Kathleen

    2010-01-01

    cis-regulatory modules (CRMs) are combinations of Transcription Factor Binding Sites involved in the regulation of genes. The detection of CRMs is key in developing a better understanding of gene regulation. Identifying significant combinations of binding sites is a difficult computational problem. Existing techniques use heuristic methods or strong restrictions to make the problem tractable, and are not very extendible. We present an extendible technique for enumerating all potential CRMs us...

  7. Creating and validating cis-regulatory maps of tissue-specific gene expression regulation

    Science.gov (United States)

    O'Connor, Timothy R.; Bailey, Timothy L.

    2014-01-01

    Predicting which genomic regions control the transcription of a given gene is a challenge. We present a novel computational approach for creating and validating maps that associate genomic regions (cis-regulatory modules–CRMs) with genes. The method infers regulatory relationships that explain gene expression observed in a test tissue using widely available genomic data for ‘other’ tissues. To predict the regulatory targets of a CRM, we use cross-tissue correlation between histone modifications present at the CRM and expression at genes within 1 Mbp of it. To validate cis-regulatory maps, we show that they yield more accurate models of gene expression than carefully constructed control maps. These gene expression models predict observed gene expression from transcription factor binding in the CRMs linked to that gene. We show that our maps are able to identify long-range regulatory interactions and improve substantially over maps linking genes and CRMs based on either the control maps or a ‘nearest neighbor’ heuristic. Our results also show that it is essential to include CRMs predicted in multiple tissues during map-building, that H3K27ac is the most informative histone modification, and that CAGE is the most informative measure of gene expression for creating cis-regulatory maps. PMID:25200088

  8. Theory on the mechanism of distal action of transcription factors: looping of DNA versus tracking along DNA

    International Nuclear Information System (INIS)

    Murugan, R

    2010-01-01

    In this paper, we develop a theory on the mechanism of distal action of the transcription factors, which are bound at their respective cis-regulatory enhancer modules on the promoter-RNA polymerase II (PR) complexes to initiate the transcription event in eukaryotes. We consider both the looping and tracking modes of their distal communication and calculate the mean first passage time that is required for the distal interactions of the complex of enhancer and transcription factor with the PR via both these modes. We further investigate how this mean first passage time is dependent on the length of the DNA segment (L, base-pairs) that connects the cis-regulatory binding site and the respective promoter. When the radius of curvature of this connecting segment of DNA is R that was induced upon binding of the transcription factor at the cis-acting element and RNAPII at the promoter in cis-positions, our calculations indicate that the looping mode of distal action will dominate when L is such that L > 2πR and the tracking mode of distal action will be favored when L 2 bps. It seems that the free energy associated with the binding of the transcription factor with its cis-acting element and the distance of this cis-acting element from the corresponding promoter of the gene of interest is negatively correlated. Our results suggest that the looping and tracking modes of distal action are concurrently operating on the transcription activation and the physics that determines the timescales associated with the looping/tracking in the mechanism of action of these transcription factors on the initiation of the transcription event must put a selection pressure on the distribution of the distances of cis-regulatory modules from their respective promoters of the genes. The computational analysis of the upstream sequences of promoters of various genes in the human and mouse genomes for the presence of putative cis-regulatory elements for a set of known transcription factors using

  9. Computational exploration of cis-regulatory modules in rhythmic expression data using the "Exploration of Distinctive CREs and CRMs" (EDCC) and "CRM Network Generator" (CNG) programs.

    Science.gov (United States)

    Bekiaris, Pavlos Stephanos; Tekath, Tobias; Staiger, Dorothee; Danisman, Selahattin

    2018-01-01

    Understanding the effect of cis-regulatory elements (CRE) and clusters of CREs, which are called cis-regulatory modules (CRM), in eukaryotic gene expression is a challenge of computational biology. We developed two programs that allow simple, fast and reliable analysis of candidate CREs and CRMs that may affect specific gene expression and that determine positional features between individual CREs within a CRM. The first program, "Exploration of Distinctive CREs and CRMs" (EDCC), correlates candidate CREs and CRMs with specific gene expression patterns. For pairs of CREs, EDCC also determines positional preferences of the single CREs in relation to each other and to the transcriptional start site. The second program, "CRM Network Generator" (CNG), prioritizes these positional preferences using a neural network and thus allows unbiased rating of the positional preferences that were determined by EDCC. We tested these programs with data from a microarray study of circadian gene expression in Arabidopsis thaliana. Analyzing more than 1.5 million pairwise CRE combinations, we found 22 candidate combinations, of which several contained known clock promoter elements together with elements that had not been identified as relevant to circadian gene expression before. CNG analysis further identified positional preferences of these CRE pairs, hinting at positional information that may be relevant for circadian gene expression. Future wet lab experiments will have to determine which of these combinations confer daytime specific circadian gene expression.

  10. Expression-guided in silico evaluation of candidate cis regulatory codes for Drosophila muscle founder cells.

    Directory of Open Access Journals (Sweden)

    Anthony A Philippakis

    2006-05-01

    Full Text Available While combinatorial models of transcriptional regulation can be inferred for metazoan systems from a priori biological knowledge, validation requires extensive and time-consuming experimental work. Thus, there is a need for computational methods that can evaluate hypothesized cis regulatory codes before the difficult task of experimental verification is undertaken. We have developed a novel computational framework (termed "CodeFinder" that integrates transcription factor binding site and gene expression information to evaluate whether a hypothesized transcriptional regulatory model (TRM; i.e., a set of co-regulating transcription factors is likely to target a given set of co-expressed genes. Our basic approach is to simultaneously predict cis regulatory modules (CRMs associated with a given gene set and quantify the enrichment for combinatorial subsets of transcription factor binding site motifs comprising the hypothesized TRM within these predicted CRMs. As a model system, we have examined a TRM experimentally demonstrated to drive the expression of two genes in a sub-population of cells in the developing Drosophila mesoderm, the somatic muscle founder cells. This TRM was previously hypothesized to be a general mode of regulation for genes expressed in this cell population. In contrast, the present analyses suggest that a modified form of this cis regulatory code applies to only a subset of founder cell genes, those whose gene expression responds to specific genetic perturbations in a similar manner to the gene on which the original model was based. We have confirmed this hypothesis by experimentally discovering six (out of 12 tested new CRMs driving expression in the embryonic mesoderm, four of which drive expression in founder cells.

  11. FastBill: An Improved Tool for Prediction of Cis-Regulatory Modules.

    Science.gov (United States)

    Wilczynski, Bartek; Tiuryn, Jerzy

    2017-03-01

    Here, we provide a new software tool, called FastBill, for prediction of evolutionarily conserved cis-regulatory modules. It improves on the previous version of our program, called Billboard, by improving the statistical significance calculation. It is also faster than the original Billboard, allowing for large-scale analyses, including multiple informant species. We illustrate the utility of FastBill by performing a large-scale computational experiment of enhancer prediction in the promoter area of more than 150 Drosophila melanogaster genes that possess annotated experimentally verified enhancers. FastBill is written in Python and is freely available for download as a standalone tool.

  12. Local sequence features that influence AP-1cis-regulatory activity.

    Science.gov (United States)

    Chaudhari, Hemangi G; Cohen, Barak A

    2018-02-01

    In the genome, most occurrences of transcription factor binding sites (TFBS) have no cis -regulatory activity, which suggests that flanking sequences contain information that distinguishes functional from nonfunctional TFBS. We interrogated the role of flanking sequences near Activator Protein 1 (AP-1) binding sites that reside in DNase I Hypersensitive Sites (DHS) and regions annotated as Enhancers. In these regions, we found that sequence features directly adjacent to the core motif distinguish high from low activity AP-1 sites. Some nearby features are motifs for other TFs that genetically interact with the AP-1 site. Other features are extensions of the AP-1 core motif, which cause the extended sites to match motifs of multiple AP-1 binding proteins. Computational models trained on these data distinguish between sequences with high and low activity AP-1 sites and also predict changes in cis -regulatory activity due to mutations in AP-1 core sites and their flanking sequences. Our results suggest that extended AP-1 binding sites, together with adjacent binding sites for additional TFs, encode part of the information that governs TFBS activity in the genome. © 2018 Chaudhari and Cohen; Published by Cold Spring Harbor Laboratory Press.

  13. Mapping of cis-regulatory sites in the promoter of testis-specific stellate genes of Drosophila melanogaster.

    Science.gov (United States)

    Olenkina, O M; Egorova, K S; Aravin, A A; Naumova, N M; Gvozdev, V A; Olenina, L V

    2012-11-01

    Tandem Stellate genes organized into two clusters in heterochromatin and euchromatin of the X-chromosome are part of the Ste-Su(Ste) genetic system required for maintenance of male fertility and reproduction of Drosophila melanogaster. Stellate genes encode a regulatory subunit of protein kinase CK2 and are the main targets of germline-specific piRNA-silencing; their derepression leads to appearance of protein crystals in spermatocytes, meiotic disturbances, and male sterility. A short promoter region of 134 bp appears to be sufficient for testis-specific transcription of Stellate, and it contains three closely located cis-regulatory elements called E-boxes. By using reporter analysis, we confirmed a strong functionality of the E-boxes in the Stellate promoter for in vivo transcription. Using selective mutagenesis, we have shown that the presence of the central E-box 2 is preferable to maintain a high-level testis-specific transcription of the reporter gene under the Stellate promoter. The Stellate promoter provides transcription even in heterochromatin, and corresponding mRNAs are translated with the generation of full-size protein products in case of disturbances in the piRNA-silencing process. We have also shown for the first time that the activity of the Stellate promoter is determined by chromatin context of the X-chromosome in male germinal cells, and it increases at about twofold when relocating in autosomes.

  14. A New Algorithm for Identifying Cis-Regulatory Modules Based on Hidden Markov Model

    Science.gov (United States)

    2017-01-01

    The discovery of cis-regulatory modules (CRMs) is the key to understanding mechanisms of transcription regulation. Since CRMs have specific regulatory structures that are the basis for the regulation of gene expression, how to model the regulatory structure of CRMs has a considerable impact on the performance of CRM identification. The paper proposes a CRM discovery algorithm called ComSPS. ComSPS builds a regulatory structure model of CRMs based on HMM by exploring the rules of CRM transcriptional grammar that governs the internal motif site arrangement of CRMs. We test ComSPS on three benchmark datasets and compare it with five existing methods. Experimental results show that ComSPS performs better than them. PMID:28497059

  15. Establishment of the methods for searching eukaryotic gene cis-regulatory modules.

    Science.gov (United States)

    Zhong, Dong; Zhang, Zhen-shu; Liu, Yu-hu; Zheng, Guo-qing; Liu, Xiao-yi; Lu, Yang; Zhao, Gui-jun; Xu, An-long

    2004-02-01

    On the basis of the knowledge of eukaryotic gene regulation, we modified the method in three aspects: (1) Searching the cis-regulatory modules (CRM) according Fasta or Blast sequence with multiple sequence and low E value, followed by mutual scoring of these sequence with Smith-Waterman algorithms and finally by clustering analysis; (2) Searching the transcription factor-binding site using International Union of Pure and Applied Chemistry, Position-Weight Matrix(PWM) and Dyed method; (3) Designing and implementation of data analysis based on the software in Windows 2000 and UNIX using object-oriented technology. The results of analysis of the major histocompatibility complex gene family show that this procedure may accurately locate the regions that contain some of the CRMs.

  16. A New Algorithm for Identifying Cis-Regulatory Modules Based on Hidden Markov Model

    Directory of Open Access Journals (Sweden)

    Haitao Guo

    2017-01-01

    Full Text Available The discovery of cis-regulatory modules (CRMs is the key to understanding mechanisms of transcription regulation. Since CRMs have specific regulatory structures that are the basis for the regulation of gene expression, how to model the regulatory structure of CRMs has a considerable impact on the performance of CRM identification. The paper proposes a CRM discovery algorithm called ComSPS. ComSPS builds a regulatory structure model of CRMs based on HMM by exploring the rules of CRM transcriptional grammar that governs the internal motif site arrangement of CRMs. We test ComSPS on three benchmark datasets and compare it with five existing methods. Experimental results show that ComSPS performs better than them.

  17. Dynamics and function of distal regulatory elements during neurogenesis and neuroplasticity

    Science.gov (United States)

    Thakurela, Sudhir; Sahu, Sanjeeb Kumar; Garding, Angela; Tiwari, Vijay K.

    2015-01-01

    Gene regulation in mammals involves a complex interplay between promoters and distal regulatory elements that function in concert to drive precise spatiotemporal gene expression programs. However, the dynamics of the distal gene regulatory landscape and its function in the transcriptional reprogramming that underlies neurogenesis and neuronal activity remain largely unknown. Here, we performed a combinatorial analysis of genome-wide data sets for chromatin accessibility (FAIRE-seq) and the enhancer mark H3K27ac, revealing the highly dynamic nature of distal gene regulation during neurogenesis, which gets progressively restricted to distinct genomic regions as neurons acquire a post-mitotic, terminally differentiated state. We further find that the distal accessible and active regions serve as target sites for distinct transcription factors that function in a stage-specific manner to contribute to the transcriptional program underlying neuronal commitment and maturation. Mature neurons respond to a sustained activity of NMDA receptors by epigenetic reprogramming at a large number of distal regulatory regions as well as dramatic reorganization of super-enhancers. Such massive remodeling of the distal regulatory landscape in turn results in a transcriptome that confers a transient loss of neuronal identity and gain of cellular plasticity. Furthermore, NMDA receptor activity also induces many novel prosurvival genes that function in neuroprotective pathways. Taken together, these findings reveal the dynamics of the distal regulatory landscape during neurogenesis and uncover novel regulatory elements that function in concert with epigenetic mechanisms and transcription factors to generate the transcriptome underlying neuronal development and activity. PMID:26170447

  18. Mass spectrometry for identification of proteins that specifically bind to a distal enhancer of the Oct4 gene

    Science.gov (United States)

    Bakhmet, E. I.; Nazarov, I. B.; Artamonova, T. O.; Khodorkovsky, M. A.; Tomilin, A. N.

    2017-11-01

    Transcription factor Oct4 is a marker of pluripotent stem cells and has a significant role in their self-renewal. Oct4 gene is controlled by three cis-regulatory elements - proximal promoter, proximal enhancer and distal enhancer. All of these elements are targets for binding of regulatory proteins. Distal enhancer is in our research focus because of its activity in early stages of embryonic development. There are two main sequences called site 2A and site 2B that are presented in distal enhancer. For this moment proteins which bind to a site 2A (CCCCTCCCCCC) remain unknown. Using combination of in vitro method electrophoretic mobility shift assay (EMSA) and mass spectromery we identified several candidates that can regulate Oct4 gene expression through site 2A.

  19. Computational detection of genomic cis-regulatory modules applied to body patterning in the early Drosophila embryo

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    Gaul Ulrike

    2002-10-01

    Full Text Available Abstract Background Regulation of gene transcription is crucial for the function and development of all organisms. While gene prediction programs that identify protein coding sequence are used with remarkable success in the annotation of genomes, the development of computational methods to analyze noncoding regions and to delineate transcriptional control elements is still in its infancy. Results Here we present novel algorithms to detect cis-regulatory modules through genome wide scans for clusters of transcription factor binding sites using three levels of prior information. When binding sites for the factors are known, our statistical segmentation algorithm, Ahab, yields about 150 putative gap gene regulated modules, with no adjustable parameters other than a window size. If one or more related modules are known, but no binding sites, repeated motifs can be found by a customized Gibbs sampler and input to Ahab, to predict genes with similar regulation. Finally using only the genome, we developed a third algorithm, Argos, that counts and scores clusters of overrepresented motifs in a window of sequence. Argos recovers many of the known modules, upstream of the segmentation genes, with no training data. Conclusions We have demonstrated, in the case of body patterning in the Drosophila embryo, that our algorithms allow the genome-wide identification of regulatory modules. We believe that Ahab overcomes many problems of recent approaches and we estimated the false positive rate to be about 50%. Argos is the first successful attempt to predict regulatory modules using only the genome without training data. Complete results and module predictions across the Drosophila genome are available at http://uqbar.rockefeller.edu/~siggia/.

  20. Identification of Cis-regulatory Elements of Butyrophilin Gene of the ...

    African Journals Online (AJOL)

    DNA sequences were masked using CENSOR. The multiple sequence analysis revealed nine highly conserved regions of similarities in the 5'- flanking region of butyrophilin genes across species. Consensus putative transcription factor binding sites were identified using MatInspector and compared with SiteGA results.

  1. Validation of skeletal muscle cis-regulatory module predictions reveals nucleotide composition bias in functional enhancers.

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    Andrew T Kwon

    2011-12-01

    Full Text Available We performed a genome-wide scan for muscle-specific cis-regulatory modules (CRMs using three computational prediction programs. Based on the predictions, 339 candidate CRMs were tested in cell culture with NIH3T3 fibroblasts and C2C12 myoblasts for capacity to direct selective reporter gene expression to differentiated C2C12 myotubes. A subset of 19 CRMs validated as functional in the assay. The rate of predictive success reveals striking limitations of computational regulatory sequence analysis methods for CRM discovery. Motif-based methods performed no better than predictions based only on sequence conservation. Analysis of the properties of the functional sequences relative to inactive sequences identifies nucleotide sequence composition can be an important characteristic to incorporate in future methods for improved predictive specificity. Muscle-related TFBSs predicted within the functional sequences display greater sequence conservation than non-TFBS flanking regions. Comparison with recent MyoD and histone modification ChIP-Seq data supports the validity of the functional regions.

  2. Identifying cis-regulatory modules by combining comparative and compositional analysis of DNA.

    Science.gov (United States)

    Pierstorff, Nora; Bergman, Casey M; Wiehe, Thomas

    2006-12-01

    Predicting cis-regulatory modules (CRMs) in higher eukaryotes is a challenging computational task. Commonly used methods to predict CRMs based on the signal of transcription factor binding sites (TFBS) are limited by prior information about transcription factor specificity. More general methods that bypass the reliance on TFBS models are needed for comprehensive CRM prediction. We have developed a method to predict CRMs called CisPlusFinder that identifies high density regions of perfect local ungapped sequences (PLUSs) based on multiple species conservation. By assuming that PLUSs contain core TFBS motifs that are locally overrepresented, the method attempts to capture the expected features of CRM structure and evolution. Applied to a benchmark dataset of CRMs involved in early Drosophila development, CisPlusFinder predicts more annotated CRMs than all other methods tested. Using the REDfly database, we find that some 'false positive' predictions in the benchmark dataset correspond to recently annotated CRMs. Our work demonstrates that CRM prediction methods that combine comparative genomic data with statistical properties of DNA may achieve reasonable performance when applied genome-wide in the absence of an a priori set of known TFBS motifs. The program CisPlusFinder can be downloaded at http://jakob.genetik.uni-koeln.de/bioinformatik/people/nora/nora.html. All software is licensed under the Lesser GNU Public License (LGPL).

  3. Extensive conservation of ancient microsynteny across metazoans due to cis-regulatory constraints.

    Science.gov (United States)

    Irimia, Manuel; Tena, Juan J; Alexis, Maria S; Fernandez-Miñan, Ana; Maeso, Ignacio; Bogdanovic, Ozren; de la Calle-Mustienes, Elisa; Roy, Scott W; Gómez-Skarmeta, José L; Fraser, Hunter B

    2012-12-01

    The order of genes in eukaryotic genomes has generally been assumed to be neutral, since gene order is largely scrambled over evolutionary time. Only a handful of exceptional examples are known, typically involving deeply conserved clusters of tandemly duplicated genes (e.g., Hox genes and histones). Here we report the first systematic survey of microsynteny conservation across metazoans, utilizing 17 genome sequences. We identified nearly 600 pairs of unrelated genes that have remained tightly physically linked in diverse lineages across over 600 million years of evolution. Integrating sequence conservation, gene expression data, gene function, epigenetic marks, and other genomic features, we provide extensive evidence that many conserved ancient linkages involve (1) the coordinated transcription of neighboring genes, or (2) genomic regulatory blocks (GRBs) in which transcriptional enhancers controlling developmental genes are contained within nearby bystander genes. In addition, we generated ChIP-seq data for key histone modifications in zebrafish embryos, which provided further evidence of putative GRBs in embryonic development. Finally, using chromosome conformation capture (3C) assays and stable transgenic experiments, we demonstrate that enhancers within bystander genes drive the expression of genes such as Otx and Islet, critical regulators of central nervous system development across bilaterians. These results suggest that ancient genomic functional associations are far more common than previously thought-involving ∼12% of the ancestral bilaterian genome-and that cis-regulatory constraints are crucial in determining metazoan genome architecture.

  4. Asymmetric subgenome selection and cis-regulatory divergence during cotton domestication.

    Science.gov (United States)

    Wang, Maojun; Tu, Lili; Lin, Min; Lin, Zhongxu; Wang, Pengcheng; Yang, Qingyong; Ye, Zhengxiu; Shen, Chao; Li, Jianying; Zhang, Lin; Zhou, Xiaolin; Nie, Xinhui; Li, Zhonghua; Guo, Kai; Ma, Yizan; Huang, Cong; Jin, Shuangxia; Zhu, Longfu; Yang, Xiyan; Min, Ling; Yuan, Daojun; Zhang, Qinghua; Lindsey, Keith; Zhang, Xianlong

    2017-04-01

    Comparative population genomics offers an excellent opportunity for unraveling the genetic history of crop domestication. Upland cotton (Gossypium hirsutum) has long been an important economic crop, but a genome-wide and evolutionary understanding of the effects of human selection is lacking. Here, we describe a variation map for 352 wild and domesticated cotton accessions. We scanned 93 domestication sweeps occupying 74 Mb of the A subgenome and 104 Mb of the D subgenome, and identified 19 candidate loci for fiber-quality-related traits through a genome-wide association study. We provide evidence showing asymmetric subgenome domestication for directional selection of long fibers. Global analyses of DNase I-hypersensitive sites and 3D genome architecture, linking functional variants to gene transcription, demonstrate the effects of domestication on cis-regulatory divergence. This study provides new insights into the evolution of gene organization, regulation and adaptation in a major crop, and should serve as a rich resource for genome-based cotton improvement.

  5. Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.

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    Jonas Carlsson Almlöf

    Full Text Available We applied genome-wide allele-specific expression analysis of monocytes from 188 samples. Monocytes were purified from white blood cells of healthy blood donors to detect cis-acting genetic variation that regulates the expression of long non-coding RNAs. We analysed 8929 regions harboring genes for potential long non-coding RNA that were retrieved from data from the ENCODE project. Of these regions, 60% were annotated as intergenic, which implies that they do not overlap with protein-coding genes. Focusing on the intergenic regions, and using stringent analysis of the allele-specific expression data, we detected robust cis-regulatory SNPs in 258 out of 489 informative intergenic regions included in the analysis. The cis-regulatory SNPs that were significantly associated with allele-specific expression of long non-coding RNAs were enriched to enhancer regions marked for active or bivalent, poised chromatin by histone modifications. Out of the lncRNA regions regulated by cis-acting regulatory SNPs, 20% (n = 52 were co-regulated with the closest protein coding gene. We compared the identified cis-regulatory SNPs with those in the catalog of SNPs identified by genome-wide association studies of human diseases and traits. This comparison identified 32 SNPs in loci from genome-wide association studies that displayed a strong association signal with allele-specific expression of non-coding RNAs in monocytes, with p-values ranging from 6.7×10(-7 to 9.5×10(-89. The identified cis-regulatory SNPs are associated with diseases of the immune system, like multiple sclerosis and rheumatoid arthritis.

  6. Bioinformatic analysis of cis-regulatory interactions between progesterone and estrogen receptors in breast cancer

    Directory of Open Access Journals (Sweden)

    Matloob Khushi

    2014-11-01

    Full Text Available Chromatin factors interact with each other in a cell and sequence-specific manner in order to regulate transcription and a wealth of publically available datasets exists describing the genomic locations of these interactions. Our recently published BiSA (Binding Sites Analyser database contains transcription factor binding locations and epigenetic modifications collected from published studies and provides tools to analyse stored and imported data. Using BiSA we investigated the overlapping cis-regulatory role of estrogen receptor alpha (ERα and progesterone receptor (PR in the T-47D breast cancer cell line. We found that ERα binding sites overlap with a subset of PR binding sites. To investigate further, we re-analysed raw data to remove any biases introduced by the use of distinct tools in the original publications. We identified 22,152 PR and 18,560 ERα binding sites (<5% false discovery rate with 4,358 overlapping regions among the two datasets. BiSA statistical analysis revealed a non-significant overall overlap correlation between the two factors, suggesting that ERα and PR are not partner factors and do not require each other for binding to occur. However, Monte Carlo simulation by Binary Interval Search (BITS, Relevant Distance, Absolute Distance, Jaccard and Projection tests by Genometricorr revealed a statistically significant spatial correlation of binding regions on chromosome between the two factors. Motif analysis revealed that the shared binding regions were enriched with binding motifs for ERα, PR and a number of other transcription and pioneer factors. Some of these factors are known to co-locate with ERα and PR binding. Therefore spatially close proximity of ERα binding sites with PR binding sites suggests that ERα and PR, in general function independently at the molecular level, but that their activities converge on a specific subset of transcriptional targets.

  7. Morphological evolution through multiple cis-regulatory mutations at a single gene.

    Science.gov (United States)

    McGregor, Alistair P; Orgogozo, Virginie; Delon, Isabelle; Zanet, Jennifer; Srinivasan, Dayalan G; Payre, François; Stern, David L

    2007-08-02

    One central, and yet unsolved, question in evolutionary biology is the relationship between the genetic variants segregating within species and the causes of morphological differences between species. The classic neo-darwinian view postulates that species differences result from the accumulation of small-effect changes at multiple loci. However, many examples support the possible role of larger abrupt changes in the expression of developmental genes in morphological evolution. Although this evidence might be considered a challenge to a neo-darwinian micromutationist view of evolution, there are currently few examples of the actual genes causing morphological differences between species. Here we examine the genetic basis of a trichome pattern difference between Drosophila species, previously shown to result from the evolution of a single gene, shavenbaby (svb), probably through cis-regulatory changes. We first identified three distinct svb enhancers from D. melanogaster driving reporter gene expression in partly overlapping patterns that together recapitulate endogenous svb expression. All three homologous enhancers from D. sechellia drive expression in modified patterns, in a direction consistent with the evolved svb expression pattern. To test the influence of these enhancers on the actual phenotypic difference, we conducted interspecific genetic mapping at a resolution sufficient to recover multiple intragenic recombinants. This functional analysis revealed that independent genetic regions upstream of svb that overlap the three identified enhancers are collectively required to generate the D. sechellia trichome pattern. Our results demonstrate that the accumulation of multiple small-effect changes at a single locus underlies the evolution of a morphological difference between species. These data support the view that alleles of large effect that distinguish species may sometimes reflect the accumulation of multiple mutations of small effect at select genes.

  8. Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.

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    Jean Francois Lefebvre

    Full Text Available Identifying and understanding the impact of gene regulatory variation is of considerable importance in evolutionary and medical genetics; such variants are thought to be responsible for human-specific adaptation and to have an important role in genetic disease. Regulatory variation in cis is readily detected in individuals showing uneven expression of a transcript from its two allelic copies, an observation referred to as allelic imbalance (AI. Identifying individuals exhibiting AI allows mapping of regulatory DNA regions and the potential to identify the underlying causal genetic variant(s. However, existing mapping methods require knowledge of the haplotypes, which make them sensitive to phasing errors. In this study, we introduce a genotype-based mapping test that does not require haplotype-phase inference to locate regulatory regions. The test relies on partitioning genotypes of individuals exhibiting AI and those not expressing AI in a 2×3 contingency table. The performance of this test to detect linkage disequilibrium (LD between a potential regulatory site and a SNP located in this region was examined by analyzing the simulated and the empirical AI datasets. In simulation experiments, the genotype-based test outperforms the haplotype-based tests with the increasing distance separating the regulatory region from its regulated transcript. The genotype-based test performed equally well with the experimental AI datasets, either from genome-wide cDNA hybridization arrays or from RNA sequencing. By avoiding the need of haplotype inference, the genotype-based test will suit AI analyses in population samples of unknown haplotype structure and will additionally facilitate the identification of cis-regulatory variants that are located far away from the regulated transcript.

  9. Identification of High-Impact cis-Regulatory Mutations Using Transcription Factor Specific Random Forest Models.

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    Dmitry Svetlichnyy

    2015-11-01

    Full Text Available Cancer genomes contain vast amounts of somatic mutations, many of which are passenger mutations not involved in oncogenesis. Whereas driver mutations in protein-coding genes can be distinguished from passenger mutations based on their recurrence, non-coding mutations are usually not recurrent at the same position. Therefore, it is still unclear how to identify cis-regulatory driver mutations, particularly when chromatin data from the same patient is not available, thus relying only on sequence and expression information. Here we use machine-learning methods to predict functional regulatory regions using sequence information alone, and compare the predicted activity of the mutated region with the reference sequence. This way we define the Predicted Regulatory Impact of a Mutation in an Enhancer (PRIME. We find that the recently identified driver mutation in the TAL1 enhancer has a high PRIME score, representing a "gain-of-target" for MYB, whereas the highly recurrent TERT promoter mutation has a surprisingly low PRIME score. We trained Random Forest models for 45 cancer-related transcription factors, and used these to score variations in the HeLa genome and somatic mutations across more than five hundred cancer genomes. Each model predicts only a small fraction of non-coding mutations with a potential impact on the function of the encompassing regulatory region. Nevertheless, as these few candidate driver mutations are often linked to gains in chromatin activity and gene expression, they may contribute to the oncogenic program by altering the expression levels of specific oncogenes and tumor suppressor genes.

  10. Predicting tissue specific cis-regulatory modules in the human genome using pairs of co-occurring motifs

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    Girgis Hani Z

    2012-02-01

    Full Text Available Abstract Background Researchers seeking to unlock the genetic basis of human physiology and diseases have been studying gene transcription regulation. The temporal and spatial patterns of gene expression are controlled by mainly non-coding elements known as cis-regulatory modules (CRMs and epigenetic factors. CRMs modulating related genes share the regulatory signature which consists of transcription factor (TF binding sites (TFBSs. Identifying such CRMs is a challenging problem due to the prohibitive number of sequence sets that need to be analyzed. Results We formulated the challenge as a supervised classification problem even though experimentally validated CRMs were not required. Our efforts resulted in a software system named CrmMiner. The system mines for CRMs in the vicinity of related genes. CrmMiner requires two sets of sequences: a mixed set and a control set. Sequences in the vicinity of the related genes comprise the mixed set, whereas the control set includes random genomic sequences. CrmMiner assumes that a large percentage of the mixed set is made of background sequences that do not include CRMs. The system identifies pairs of closely located motifs representing vertebrate TFBSs that are enriched in the training mixed set consisting of 50% of the gene loci. In addition, CrmMiner selects a group of the enriched pairs to represent the tissue-specific regulatory signature. The mixed and the control sets are searched for candidate sequences that include any of the selected pairs. Next, an optimal Bayesian classifier is used to distinguish candidates found in the mixed set from their control counterparts. Our study proposes 62 tissue-specific regulatory signatures and putative CRMs for different human tissues and cell types. These signatures consist of assortments of ubiquitously expressed TFs and tissue-specific TFs. Under controlled settings, CrmMiner identified known CRMs in noisy sets up to 1:25 signal-to-noise ratio. CrmMiner was

  11. Predicting tissue specific cis-regulatory modules in the human genome using pairs of co-occurring motifs.

    Science.gov (United States)

    Girgis, Hani Z; Ovcharenko, Ivan

    2012-02-07

    Researchers seeking to unlock the genetic basis of human physiology and diseases have been studying gene transcription regulation. The temporal and spatial patterns of gene expression are controlled by mainly non-coding elements known as cis-regulatory modules (CRMs) and epigenetic factors. CRMs modulating related genes share the regulatory signature which consists of transcription factor (TF) binding sites (TFBSs). Identifying such CRMs is a challenging problem due to the prohibitive number of sequence sets that need to be analyzed. We formulated the challenge as a supervised classification problem even though experimentally validated CRMs were not required. Our efforts resulted in a software system named CrmMiner. The system mines for CRMs in the vicinity of related genes. CrmMiner requires two sets of sequences: a mixed set and a control set. Sequences in the vicinity of the related genes comprise the mixed set, whereas the control set includes random genomic sequences. CrmMiner assumes that a large percentage of the mixed set is made of background sequences that do not include CRMs. The system identifies pairs of closely located motifs representing vertebrate TFBSs that are enriched in the training mixed set consisting of 50% of the gene loci. In addition, CrmMiner selects a group of the enriched pairs to represent the tissue-specific regulatory signature. The mixed and the control sets are searched for candidate sequences that include any of the selected pairs. Next, an optimal Bayesian classifier is used to distinguish candidates found in the mixed set from their control counterparts. Our study proposes 62 tissue-specific regulatory signatures and putative CRMs for different human tissues and cell types. These signatures consist of assortments of ubiquitously expressed TFs and tissue-specific TFs. Under controlled settings, CrmMiner identified known CRMs in noisy sets up to 1:25 signal-to-noise ratio. CrmMiner was 21-75% more precise than a related CRM

  12. Elements for successful functional result after surgical treatment of intra-articular distal humeral fractures.

    Science.gov (United States)

    Darabos, Nikica; Bajs, Ivana Dovzak; Sabalić, Srećko; Pavić, Roman; Darabos, Anela; Cengić, Tomislav

    2012-12-01

    Intra-articular distal humeral fractures (DHF) present great challenge to an orthopedic-trauma surgeon. We analyzed the relationship between functional results of DHF surgical treatment and elements that can affect patient recovery. During the 5-year follow-up study, 32 patients were treated for DHF at our Trauma Department, 30 of them by surgical procedure. Functional results of surgical treatment were scored according to the Jupiter criteria. According to the A-O classification of DHF, there were 11 type A fractures, 5 type B fractures and 14 type C fractures. Postoperative complications were infections, neural lesions, inadequate healing, and instability of osteosynthesis. Analysis of functional results in patients with operated C type fractures according to different elements influencing postoperative result revealed correct healing in 74% of patients, which was statistically significantly higher than the percentage of unsatisfactory results (p elements for successful functional recovery.

  13. cisMEP: an integrated repository of genomic epigenetic profiles and cis-regulatory modules in Drosophila.

    Science.gov (United States)

    Yang, Tzu-Hsien; Wang, Chung-Ching; Hung, Po-Cheng; Wu, Wei-Sheng

    2014-01-01

    Cis-regulatory modules (CRMs), or the DNA sequences required for regulating gene expression, play the central role in biological researches on transcriptional regulation in metazoan species. Nowadays, the systematic understanding of CRMs still mainly resorts to computational methods due to the time-consuming and small-scale nature of experimental methods. But the accuracy and reliability of different CRM prediction tools are still unclear. Without comparative cross-analysis of the results and combinatorial consideration with extra experimental information, there is no easy way to assess the confidence of the predicted CRMs. This limits the genome-wide understanding of CRMs. It is known that transcription factor binding and epigenetic profiles tend to determine functions of CRMs in gene transcriptional regulation. Thus integration of the genome-wide epigenetic profiles with systematically predicted CRMs can greatly help researchers evaluate and decipher the prediction confidence and possible transcriptional regulatory functions of these potential CRMs. However, these data are still fragmentary in the literatures. Here we performed the computational genome-wide screening for potential CRMs using different prediction tools and constructed the pioneer database, cisMEP (cis-regulatory module epigenetic profile database), to integrate these computationally identified CRMs with genomic epigenetic profile data. cisMEP collects the literature-curated TFBS location data and nine genres of epigenetic data for assessing the confidence of these potential CRMs and deciphering the possible CRM functionality. cisMEP aims to provide a user-friendly interface for researchers to assess the confidence of different potential CRMs and to understand the functions of CRMs through experimentally-identified epigenetic profiles. The deposited potential CRMs and experimental epigenetic profiles for confidence assessment provide experimentally testable hypotheses for the molecular mechanisms

  14. Mapping cis-Regulatory Domains in the Human Genome UsingMulti-Species Conservation of Synteny

    Energy Technology Data Exchange (ETDEWEB)

    Ahituv, Nadav; Prabhakar, Shyam; Poulin, Francis; Rubin, EdwardM.; Couronne, Olivier

    2005-06-13

    Our inability to associate distant regulatory elements with the genes that they regulate has largely precluded their examination for sequence alterations contributing to human disease. One major obstacle is the large genomic space surrounding targeted genes in which such elements could potentially reside. In order to delineate gene regulatory boundaries we used whole-genome human-mouse-chicken (HMC) and human-mouse-frog (HMF) multiple alignments to compile conserved blocks of synteny (CBS), under the hypothesis that these blocks have been kept intact throughout evolution at least in part by the requirement of regulatory elements to stay linked to the genes that they regulate. A total of 2,116 and 1,942 CBS>200 kb were assembled for HMC and HMF respectively, encompassing 1.53 and 0.86 Gb of human sequence. To support the existence of complex long-range regulatory domains within these CBS we analyzed the prevalence and distribution of chromosomal aberrations leading to position effects (disruption of a genes regulatory environment), observing a clear bias not only for mapping onto CBS but also for longer CBS size. Our results provide a genome wide data set characterizing the regulatory domains of genes and the conserved regulatory elements within them.

  15. cisMEP: an integrated repository of genomic epigenetic profiles and cis-regulatory modules in Drosophila

    Science.gov (United States)

    2014-01-01

    Background Cis-regulatory modules (CRMs), or the DNA sequences required for regulating gene expression, play the central role in biological researches on transcriptional regulation in metazoan species. Nowadays, the systematic understanding of CRMs still mainly resorts to computational methods due to the time-consuming and small-scale nature of experimental methods. But the accuracy and reliability of different CRM prediction tools are still unclear. Without comparative cross-analysis of the results and combinatorial consideration with extra experimental information, there is no easy way to assess the confidence of the predicted CRMs. This limits the genome-wide understanding of CRMs. Description It is known that transcription factor binding and epigenetic profiles tend to determine functions of CRMs in gene transcriptional regulation. Thus integration of the genome-wide epigenetic profiles with systematically predicted CRMs can greatly help researchers evaluate and decipher the prediction confidence and possible transcriptional regulatory functions of these potential CRMs. However, these data are still fragmentary in the literatures. Here we performed the computational genome-wide screening for potential CRMs using different prediction tools and constructed the pioneer database, cisMEP (cis-regulatory module epigenetic profile database), to integrate these computationally identified CRMs with genomic epigenetic profile data. cisMEP collects the literature-curated TFBS location data and nine genres of epigenetic data for assessing the confidence of these potential CRMs and deciphering the possible CRM functionality. Conclusions cisMEP aims to provide a user-friendly interface for researchers to assess the confidence of different potential CRMs and to understand the functions of CRMs through experimentally-identified epigenetic profiles. The deposited potential CRMs and experimental epigenetic profiles for confidence assessment provide experimentally testable

  16. Cis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs.

    Science.gov (United States)

    Abbasi, Amir A; Minhas, Rashid; Schmidt, Ansgar; Koch, Sabine; Grzeschik, Karl-Heinz

    2013-10-01

    The zinc finger transcription factor Gli3 is an important mediator of Sonic hedgehog (Shh) signaling. During early embryonic development Gli3 participates in patterning and growth of the central nervous system, face, skeleton, limb, tooth and gut. Precise regulation of the temporal and spatial expression of Gli3 is crucial for the proper specification of these structures in mammals and other vertebrates. Previously we reported a set of human intronic cis-regulators controlling almost the entire known repertoire of endogenous Gli3 expression in mouse neural tube and limbs. However, the genetic underpinning of GLI3 expression in other embryonic domains such as craniofacial structures and internal organs remain elusive. Here we demonstrate in a transgenic mice assay the potential of a subset of human/fish conserved non-coding sequences (CNEs) residing within GLI3 intronic intervals to induce reporter gene expression at known regions of endogenous Gli3 transcription in embryonic domains other than central nervous system (CNS) and limbs. Highly specific reporter expression was observed in craniofacial structures, eye, gut, and genitourinary system. Moreover, the comparison of expression patterns directed by these intronic cis-acting regulatory elements in mouse and zebrafish embryos suggests that in accordance with sequence conservation, the target site specificity of a subset of these elements remains preserved among these two lineages. Taken together with our recent investigations, it is proposed here that during vertebrate evolution the Gli3 expression control acquired multiple, independently acting, intronic enhancers for spatiotemporal patterning of CNS, limbs, craniofacial structures and internal organs. © 2013 The Authors Development, Growth & Differentiation © 2013 Japanese Society of Developmental Biologists.

  17. Mechanisms involved in carbachol-induced Ca2+ sensitization of contractile elements in rat proximal and distal colon

    Science.gov (United States)

    Takeuchi, Tadayoshi; Kushida, Masahiko; Hirayama, Nobue; Kitayama, Muneyoshi; Fujita, Akikazu; Hata, Fumiaki

    2004-01-01

    Mechanisms involved in Ca2+ sensitization of contractile elements induced by the activation of muscarinic receptors in membrane-permeabilized preparations of the rat proximal and distal colon were studied. In α-toxin-permeabilized preparations from the rat proximal and distal colon, Ca2+ induced a rapid phasic and subsequent tonic component. After Ca2+-induced contraction reached a plateau, guanosine 5′-triphosphate (GTP) and carbachol (CCh) in the presence of GTP further contracted preparations of both the proximal and distal colon (Ca2+ sensitization). Y-27632, a rho-kinase inhibitor, inhibited GTP plus CCh-induced Ca2+ sensitization more significantly in the proximal colon than in the distal colon. Y-27632 at 10 μM had no effect on Ca2+-induced contraction or slightly inhibited phorbol-12,13-dibutyrate-induced Ca2+ sensitization in either proximal or distal colon. Chelerythrine, a protein kinase C inhibitor, inhibited GTP plus CCh-induced Ca2+ sensitization in the distal colon, but not in the proximal colon. The component of Ca2+ sensitization that persisted after the chelerythrine treatment was completely inhibited by Y-27632. In β-escin-permeabilized preparations of the proximal colon, C3 exoenzyme completely inhibited GTP plus CCh-induced Ca2+ sensitization, but PKC(19–31) did not. In the distal colon, C3 exoenzyme abolished GTP-induced Ca2+ sensitization. It inhibited CCh-induced sensitization by 50 % and the remaining component was inhibited by PKC(19–31). These results suggest that both protein kinase C and rho pathways in parallel mediate the Ca2+ sensitization coupled to activation of muscarinic receptors in the rat distal colon, whereas the rho pathway alone mediates this action in the proximal colon. PMID:15159278

  18. Comparison of tooth displacement between buccal mini-implants and palatal plate anchorage for molar distalization: a finite element study.

    Science.gov (United States)

    Yu, Il-Jun; Kook, Yoon-Ah; Sung, Sang-Jin; Lee, Kee-Joon; Chun, Youn-Sic; Mo, Sung-Seo

    2014-08-01

    The purposes of this study were to mechanically evaluate distalization modalities through the application of skeletal anchorage using finite element analysis. Base models were constructed from commercial teeth models. A finite element model was created and three treatment modalities were modified to make 10 models. Modalities 1 and 2 placed mini-implants in the buccal side, and modality 3 placed a plate on the palatal side. Distalization with the palatal plate in modality 3 showed bodily molar movement and insignificant displacement of the incisors. Placing mini-implants on the buccal side in modalities 1 and 2 caused the first molar to be distally tipped and extruded, while the incisors were labially flared and intruded. Distalization with the palatal plate rather than mini-implants on the buccal side provided bodily molar movement without tipping or extrusion. It is recommended to use our findings as a clinical guide for the application of skeletal anchorage devices for molar distalization. © The Author 2011. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  19. Unveiling combinatorial regulation through the combination of ChIP information and in silico cis-regulatory module detection

    Science.gov (United States)

    Sun, Hong; Guns, Tias; Fierro, Ana Carolina; Thorrez, Lieven; Nijssen, Siegfried; Marchal, Kathleen

    2012-01-01

    Computationally retrieving biologically relevant cis-regulatory modules (CRMs) is not straightforward. Because of the large number of candidates and the imperfection of the screening methods, many spurious CRMs are detected that are as high scoring as the biologically true ones. Using ChIP-information allows not only to reduce the regions in which the binding sites of the assayed transcription factor (TF) should be located, but also allows restricting the valid CRMs to those that contain the assayed TF (here referred to as applying CRM detection in a query-based mode). In this study, we show that exploiting ChIP-information in a query-based way makes in silico CRM detection a much more feasible endeavor. To be able to handle the large datasets, the query-based setting and other specificities proper to CRM detection on ChIP-Seq based data, we developed a novel powerful CRM detection method ‘CPModule’. By applying it on a well-studied ChIP-Seq data set involved in self-renewal of mouse embryonic stem cells, we demonstrate how our tool can recover combinatorial regulation of five known TFs that are key in the self-renewal of mouse embryonic stem cells. Additionally, we make a number of new predictions on combinatorial regulation of these five key TFs with other TFs documented in TRANSFAC. PMID:22422841

  20. An algorithmic perspective of de novo cis-regulatory motif finding based on ChIP-seq data.

    Science.gov (United States)

    Liu, Bingqiang; Yang, Jinyu; Li, Yang; McDermaid, Adam; Ma, Qin

    2017-03-08

    Transcription factors are proteins that bind to specific DNA sequences and play important roles in controlling the expression levels of their target genes. Hence, prediction of transcription factor binding sites (TFBSs) provides a solid foundation for inferring gene regulatory mechanisms and building regulatory networks for a genome. Chromatin immunoprecipitation sequencing (ChIP-seq) technology can generate large-scale experimental data for such protein-DNA interactions, providing an unprecedented opportunity to identify TFBSs (a.k.a. cis-regulatory motifs). The bottleneck, however, is the lack of robust mathematical models, as well as efficient computational methods for TFBS prediction to make effective use of massive ChIP-seq data sets in the public domain. The purpose of this study is to review existing motif-finding methods for ChIP-seq data from an algorithmic perspective and provide new computational insight into this field. The state-of-the-art methods were shown through summarizing eight representative motif-finding algorithms along with corresponding challenges, and introducing some important relative functions according to specific biological demands, including discriminative motif finding and cofactor motifs analysis. Finally, potential directions and plans for ChIP-seq-based motif-finding tools were showcased in support of future algorithm development. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  1. Changes in cis-regulatory elements of a key floral regulator are associated with divergence of inflorescence architectures

    NARCIS (Netherlands)

    Kusters, E.; Della Pina, S.; Castel, R.; Souer, E.; Koes, R.

    2015-01-01

    Higher plant species diverged extensively with regard to the moment (flowering time) and position (inflorescence architecture) at which flowers are formed. This seems largely caused by variation in the expression patterns of conserved genes that specify floral meristem identity (FMI), rather than

  2. Changes in cis-regulatory elements of a key floral regulator are associated with divergence of inflorescence architectures.

    NARCIS (Netherlands)

    Kusters, E.; Della Pina, S.; Castel, R.; Souer, E.J.; Koes, R.E.

    2015-01-01

    Higher plant species diverged extensively with regard to the moment (flowering time) and position (inflorescence architecture) at which flowers are formed. This seems largely caused by variation in the expression patterns of conserved genes that specify floral meristem identity (FMI), rather than

  3. Discovery of cell-type specific DNA motif grammar in cis-regulatory elements using random Forest.

    Science.gov (United States)

    Wang, Xin; Lin, Peijie; Ho, Joshua W K

    2018-01-19

    It has been observed that many transcription factors (TFs) can bind to different genomic loci depending on the cell type in which a TF is expressed in, even though the individual TF usually binds to the same core motif in different cell types. How a TF can bind to the genome in such a highly cell-type specific manner, is a critical research question. One hypothesis is that a TF requires co-binding of different TFs in different cell types. If this is the case, it may be possible to observe different combinations of TF motifs - a motif grammar - located at the TF binding sites in different cell types. In this study, we develop a bioinformatics method to systematically identify DNA motifs in TF binding sites across multiple cell types based on published ChIP-seq data, and address two questions: (1) can we build a machine learning classifier to predict cell-type specificity based on motif combinations alone, and (2) can we extract meaningful cell-type specific motif grammars from this classifier model. We present a Random Forest (RF) based approach to build a multi-class classifier to predict the cell-type specificity of a TF binding site given its motif content. We applied this RF classifier to two published ChIP-seq datasets of TF (TCF7L2 and MAX) across multiple cell types. Using cross-validation, we show that motif combinations alone are indeed predictive of cell types. Furthermore, we present a rule mining approach to extract the most discriminatory rules in the RF classifier, thus allowing us to discover the underlying cell-type specific motif grammar. Our bioinformatics analysis supports the hypothesis that combinatorial TF motif patterns are cell-type specific.

  4. D-Light on promoters: a client-server system for the analysis and visualization of cis-regulatory elements.

    Science.gov (United States)

    Laimer, Josef; Zuzan, Clemens J; Ehrenberger, Tobias; Freudenberger, Monika; Gschwandtner, Simone; Lebherz, Carina; Lackner, Peter

    2013-04-24

    The binding of transcription factors to DNA plays an essential role in the regulation of gene expression. Numerous experiments elucidated binding sequences which subsequently have been used to derive statistical models for predicting potential transcription factor binding sites (TFBS). The rapidly increasing number of genome sequence data requires sophisticated computational approaches to manage and query experimental and predicted TFBS data in the context of other epigenetic factors and across different organisms. We have developed D-Light, a novel client-server software package to store and query large amounts of TFBS data for any number of genomes. Users can add small-scale data to the server database and query them in a large scale, genome-wide promoter context. The client is implemented in Java and provides simple graphical user interfaces and data visualization. Here we also performed a statistical analysis showing what a user can expect for certain parameter settings and we illustrate the usage of D-Light with the help of a microarray data set. D-Light is an easy to use software tool to integrate, store and query annotation data for promoters. A public D-Light server, the client and server software for local installation and the source code under GNU GPL license are available at http://biwww.che.sbg.ac.at/dlight.

  5. Three Dimensional Finite Element Analysis of Distal Abutment Stresses of Removable Partial Dentures with Different Retainer Designs

    Science.gov (United States)

    Zarrati, Simindokht; Heidari, Fatemeh; Kashani, Jamal

    2015-01-01

    Objectives: This finite element method study aimed to compare the amount of stress on an isolated mandibular second premolar in two conventional reciprocal parallel interface designs of removable partial dentures (RPDs) and the same RPD abutment tooth (not isolated). Materials and Methods: A Kennedy Class 1, modification 1 RPD framework was simulated on a 3D model of mandible with three different designs: an isolated tooth with a mesial rest, an isolated tooth with mesial and distal rests and an abutment with a mesial rest (which was not isolated); 26 N occlusal forces were exerted bilaterally on the first molar sites. Stress on the abutment teeth was analyzed using Cosmos Works 2009 Software. Results: In all designs, the abutment tooth stress concentration was located in the buccal alveolar crest. In the first model, the von Mises stress distribution in the contact area of I-bar clasp and cervical portion of the tooth was 19 MPa and the maximum stress was 30 MPa. In the second model, the maximum von Mises stress distribution was 15 MPa in the cervical of the tooth. In the third model, the maximum von Mises stress was located in the cervical of the tooth and the distal proximal plate. Conclusion: We recommend using both mesial and distal rests on the distal abutment teeth of distal extension RPDs. The abutment of an extension base RPD, which is not isolated in presence of its neighboring more anterior tooth, may have a better biomechanical prognosis. PMID:26884772

  6. A patient specific finite element simulation of intramedullary nailing to predict the displacement of the distal locking hole.

    Science.gov (United States)

    Mortazavi, Javad; Farahmand, Farzam; Behzadipour, Saeed; Yeganeh, Ali; Aghighi, Mohammad

    2018-05-01

    Distal locking is a challenging subtask of intramedullary nailing fracture fixation due to the nail deformation that makes the proximally mounted targeting systems ineffective. A patient specific finite element model was developed, based on the QCT data of a cadaveric femur, to predict the position of the distal hole of the nail postoperatively. The mechanical interactions of femur and nail (of two sizes) during nail insertion was simulated using ABAQUS in two steps of dynamic pushing and static equilibrium, for the intact and distally fractured bone. Experiments were also performed on the same specimen to validate the simulation results. A good agreement was found between the model predictions and the experimental observations. There was a three-point contact pattern between the nail and medullary canal, only on the proximal fragment of the fractured bone. The nail deflection was much larger in the sagittal plane and increased for the larger diameter nail, as well as for more distally fractured or intact femur. The altered position of the distal hole was predicted by the model with an acceptable error (mean: 0.95; max: 1.5 mm, in different tests) to be used as the compensatory information for fine tuning of proximally mounted targeting systems. Copyright © 2018 IPEM. Published by Elsevier Ltd. All rights reserved.

  7. A novel method for predicting activity of cis-regulatory modules, based on a diverse training set.

    Science.gov (United States)

    Yang, Wei; Sinha, Saurabh

    2017-01-01

    With the rapid emergence of technologies for locating cis-regulatory modules (CRMs) genome-wide, the next pressing challenge is to assign precise functions to each CRM, i.e. to determine the spatiotemporal domains or cell-types where it drives expression. A popular approach to this task is to model the typical k-mer composition of a set of CRMs known to drive a common expression pattern, and assign that pattern to other CRMs exhibiting a similar k-mer composition. This approach does not rely on prior knowledge of transcription factors relevant to the CRM or their binding motifs, and is thus more widely applicable than motif-based methods for predicting CRM activity, but is also prone to false positive predictions. We present a novel strategy to improve the above-mentioned approach: to predict if a CRM drives a specific gene expression pattern, assess not only how similar the CRM is to other CRMs with similar activity but also to CRMs with distinct activities. We use a state-of-the-art statistical method to quantify a CRM's sequence similarity to many different training sets of CRMs, and employ a classification algorithm to integrate these similarity scores into a single prediction of the CRM's activity. This strategy is shown to significantly improve CRM activity prediction over current approaches. Our implementation of the new method, called IMMBoost, is freely available as source code, at https://github.com/weiyangedward/IMMBoost CONTACT: sinhas@illinois.eduSupplementary information: Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  8. Three Dimensional Finite Element Analysis of Distal Abutment Stresses of Removable Partial Dentures with Different Retainer Designs

    Directory of Open Access Journals (Sweden)

    Simindokht Zarrati

    2015-11-01

    Full Text Available Objectives: This finite element method study aimed to compare the amount of stress on an isolated mandibular second premolar in two conventional reciprocal parallel interface designs of removable partial dentures (RPDs and the same RPD abutment tooth (not isolated.Materials and Methods: A Kennedy Class 1, modification 1 RPD framework was simulated on a 3D model of mandible with three different designs: an isolated tooth with a mesial rest, an isolated tooth with mesial and distal rests and an abutment with a mesial rest (which was not isolated; 26 N occlusal forces were exerted bilaterally on the first molar sites. Stress on the abutment teeth was analyzed using Cosmos Works 2009 Software.Results: In all designs, the abutment tooth stress concentration was located in the buccal alveolar crest. In the first model, the von Mises stress distribution in the contact area of I-bar clasp and cervical portion of the tooth was 19 MPa and the maximum stress was 30 MPa. In the second model, the maximum von Mises stress distribution was 15 MPa in the cervical of the tooth. In the third model, the maximum von Mises stress was located in the cervical of the tooth and the distal proximal plate.Conclusion: We recommend using both mesial and distal rests on the distal abutment teeth of distal extension RPDs. The abutment of an extension base RPD, which is not isolated in presence of its neighboring more anterior tooth, may have a better biomechanical prognosis.      

  9. A Generalized Linear Model for Decomposing Cis-regulatory, Parent-of-Origin, and Maternal Effects on Allele-Specific Gene Expression

    Directory of Open Access Journals (Sweden)

    Yasuaki Takada

    2017-07-01

    Full Text Available Joint quantification of genetic and epigenetic effects on gene expression is important for understanding the establishment of complex gene regulation systems in living organisms. In particular, genomic imprinting and maternal effects play important roles in the developmental process of mammals and flowering plants. However, the influence of these effects on gene expression are difficult to quantify because they act simultaneously with cis-regulatory mutations. Here we propose a simple method to decompose cis-regulatory (i.e., allelic genotype, genomic imprinting [i.e., parent-of-origin (PO], and maternal [i.e., maternal genotype (MG] effects on allele-specific gene expression using RNA-seq data obtained from reciprocal crosses. We evaluated the efficiency of method using a simulated dataset and applied the method to whole-body Drosophila and mouse trophoblast stem cell (TSC and liver RNA-seq data. Consistent with previous studies, we found little evidence of PO and MG effects in adult Drosophila samples. In contrast, we identified dozens and hundreds of mouse genes with significant PO and MG effects, respectively. Interestingly, a similar number of genes with significant PO effect were detect in mouse TSCs and livers, whereas more genes with significant MG effect were observed in livers. Further application of this method will clarify how these three effects influence gene expression levels in different tissues and developmental stages, and provide novel insight into the evolution of gene expression regulation.

  10. Identification of Lineage-Specific Cis-Regulatory Modules Associated with Variation in Transcription Factor Binding and Chromatin Activity Using Ornstein–Uhlenbeck Models

    Science.gov (United States)

    Naval-Sánchez, Marina; Potier, Delphine; Hulselmans, Gert; Christiaens, Valerie; Aerts, Stein

    2015-01-01

    Scoring the impact of noncoding variation on the function of cis-regulatory regions, on their chromatin state, and on the qualitative and quantitative expression levels of target genes is a fundamental problem in evolutionary genomics. A particular challenge is how to model the divergence of quantitative traits and to identify relationships between the changes across the different levels of the genome, the chromatin activity landscape, and the transcriptome. Here, we examine the use of the Ornstein–Uhlenbeck (OU) model to infer selection at the level of predicted cis-regulatory modules (CRMs), and link these with changes in transcription factor binding and chromatin activity. Using publicly available cross-species ChIP-Seq and STARR-Seq data we show how OU can be applied genome-wide to identify candidate transcription factors for which binding site and CRM turnover is correlated with changes in regulatory activity. Next, we profile open chromatin in the developing eye across three Drosophila species. We identify the recognition motifs of the chromatin remodelers, Trithorax-like and Grainyhead as mostly correlating with species-specific changes in open chromatin. In conclusion, we show in this study that CRM scores can be used as quantitative traits and that motif discovery approaches can be extended towards more complex models of divergence. PMID:25944915

  11. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

    Science.gov (United States)

    Özgül, Rıza Köksal; Siemiatkowska, Anna M.; Yücel, Didem; Myers, Connie A.; Collin, Rob W.J.; Zonneveld, Marijke N.; Beryozkin, Avigail; Banin, Eyal; Hoyng, Carel B.; van den Born, L. Ingeborgh; Bose, Ron; Shen, Wei; Sharon, Dror; Cremers, Frans P.M.; Klevering, B. Jeroen; den Hollander, Anneke I.; Corbo, Joseph C.

    2011-01-01

    A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the context of a genetically heterogeneous disease, retinitis pigmentosa (RP), we devised a candidate-gene prioritization strategy called cis-regulatory mapping that utilizes ChIP-seq data for the photoreceptor transcription factor CRX to rank candidate genes. Exome sequencing combined with this approach identified a homozygous nonsense mutation in male germ cell-associated kinase (MAK) in the single affected member of a consanguineous Turkish family with RP. MAK encodes a cilium-associated mitogen-activated protein kinase whose function is conserved from the ciliated alga, Chlamydomonas reinhardtii, to humans. Mutations in MAK orthologs in mice and other model organisms result in abnormally long cilia and, in mice, rapid photoreceptor degeneration. Subsequent sequence analyses of additional individuals with RP identified five probands with missense mutations in MAK. Two of these mutations alter amino acids that are conserved in all known kinases, and an in vitro kinase assay indicates that these mutations result in a loss of kinase activity. Thus, kinase activity appears to be critical for MAK function in humans. This study highlights a previously underappreciated role for CRX as a direct transcriptional regulator of ciliary genes in photoreceptors. In addition, it demonstrates the effectiveness of CRX-based cis-regulatory mapping in prioritizing candidate genes from exome data and suggests that this strategy should be generally applicable to a range of retinal diseases. PMID:21835304

  12. A Generalized Linear Model for DecomposingCis-regulatory, Parent-of-Origin, and Maternal Effects on Allele-Specific Gene Expression.

    Science.gov (United States)

    Takada, Yasuaki; Miyagi, Ryutaro; Takahashi, Aya; Endo, Toshinori; Osada, Naoki

    2017-07-05

    Joint quantification of genetic and epigenetic effects on gene expression is important for understanding the establishment of complex gene regulation systems in living organisms. In particular, genomic imprinting and maternal effects play important roles in the developmental process of mammals and flowering plants. However, the influence of these effects on gene expression are difficult to quantify because they act simultaneously with cis -regulatory mutations. Here we propose a simple method to decompose cis -regulatory ( i.e. , allelic genotype), genomic imprinting [ i.e. , parent-of-origin (PO)], and maternal [ i.e. , maternal genotype (MG)] effects on allele-specific gene expression using RNA-seq data obtained from reciprocal crosses. We evaluated the efficiency of method using a simulated dataset and applied the method to whole-body Drosophila and mouse trophoblast stem cell (TSC) and liver RNA-seq data. Consistent with previous studies, we found little evidence of PO and MG effects in adult Drosophila samples. In contrast, we identified dozens and hundreds of mouse genes with significant PO and MG effects, respectively. Interestingly, a similar number of genes with significant PO effect were detect in mouse TSCs and livers, whereas more genes with significant MG effect were observed in livers. Further application of this method will clarify how these three effects influence gene expression levels in different tissues and developmental stages, and provide novel insight into the evolution of gene expression regulation. Copyright © 2017 Takada et al.

  13. SOX2 co-occupies distal enhancer elements with distinct POU factors in ESCs and NPCs to specify cell state.

    Directory of Open Access Journals (Sweden)

    Michael A Lodato

    Full Text Available SOX2 is a master regulator of both pluripotent embryonic stem cells (ESCs and multipotent neural progenitor cells (NPCs; however, we currently lack a detailed understanding of how SOX2 controls these distinct stem cell populations. Here we show by genome-wide analysis that, while SOX2 bound to a distinct set of gene promoters in ESCs and NPCs, the majority of regions coincided with unique distal enhancer elements, important cis-acting regulators of tissue-specific gene expression programs. Notably, SOX2 bound the same consensus DNA motif in both cell types, suggesting that additional factors contribute to target specificity. We found that, similar to its association with OCT4 (Pou5f1 in ESCs, the related POU family member BRN2 (Pou3f2 co-occupied a large set of putative distal enhancers with SOX2 in NPCs. Forced expression of BRN2 in ESCs led to functional recruitment of SOX2 to a subset of NPC-specific targets and to precocious differentiation toward a neural-like state. Further analysis of the bound sequences revealed differences in the distances of SOX and POU peaks in the two cell types and identified motifs for additional transcription factors. Together, these data suggest that SOX2 controls a larger network of genes than previously anticipated through binding of distal enhancers and that transitions in POU partner factors may control tissue-specific transcriptional programs. Our findings have important implications for understanding lineage specification and somatic cell reprogramming, where SOX2, OCT4, and BRN2 have been shown to be key factors.

  14. RUNX1 regulates the CD34 gene in haematopoietic stem cells by mediating interactions with a distal regulatory element

    Science.gov (United States)

    Levantini, Elena; Lee, Sanghoon; Radomska, Hanna S; Hetherington, Christopher J; Alberich-Jorda, Meritxell; Amabile, Giovanni; Zhang, Pu; Gonzalez, David A; Zhang, Junyan; Basseres, Daniela S; Wilson, Nicola K; Koschmieder, Steffen; Huang, Gang; Zhang, Dong-Er; Ebralidze, Alexander K; Bonifer, Constanze; Okuno, Yutaka; Gottgens, Bertie; Tenen, Daniel G

    2011-01-01

    The transcription factor RUNX1 is essential to establish the haematopoietic gene expression programme; however, the mechanism of how it activates transcription of haematopoietic stem cell (HSC) genes is still elusive. Here, we obtained novel insights into RUNX1 function by studying regulation of the human CD34 gene, which is expressed in HSCs. Using transgenic mice carrying human CD34 PAC constructs, we identified a novel downstream regulatory element (DRE), which is bound by RUNX1 and is necessary for human CD34 expression in long-term (LT)-HSCs. Conditional deletion of Runx1 in mice harbouring human CD34 promoter–DRE constructs abrogates human CD34 expression. We demonstrate by chromosome conformation capture assays in LT-HSCs that the DRE physically interacts with the human CD34 promoter. Targeted mutagenesis of RUNX binding sites leads to perturbation of this interaction and decreased human CD34 expression in LT-HSCs. Overall, our in vivo data provide novel evidence about the role of RUNX1 in mediating interactions between distal and proximal elements of the HSC gene CD34. PMID:21873977

  15. Off-axis loads cause failure of the distal radius at lower magnitudes than axial loads: A finite element analysis

    Science.gov (United States)

    Troy, Karen L.; Grabiner, Mark D.

    2014-01-01

    Distal radius (Colles’) fractures are a common fall-related injury in older adults and frequently result in long-term pain and reduced ability to perform activities of daily living. Because the occurrence of a fracture during a fall depends on both the strength of the bone and upon the kinematics and kinetics of the impact itself, we sought to understand how changes in bone mineral density (BMD) and loading direction affect the fracture strength and fracture initiation location in the distal radius. A three-dimensional finite element model of the radius, scaphoid, and lunate was used to examine changes of ±2% and ±4% BMD, and both axial and physiologically relevant off-axis loads on the radius. Changes in BMD resulted in similar percent changes in fracture strength. However, modifying the applied load to include dorsal and lateral components (assuming a dorsal view of the wrist, rather than an anatomic view) resulted in a 47% decrease in fracture strength (axial failure load: 2752 N, off-axis: 1448 N). Loading direction also influenced the fracture initiation site. Axially loaded radii failed on the medial surface immediately proximal to the styloid process. In contrast, off-axis loads, containing dorsal and lateral components, caused failure on the dorsal–lateral surface. Because the radius appears to be very sensitive to loading direction, the results suggest that much of the variability in fracture strength seen in cadaver studies may be attributed to varying boundary conditions. The results further suggest that interventions focused on reducing the incidence of Colles’ fractures when falls onto the upper extremities are unavoidable may benefit from increasing the extent to which the radius is loaded along its axis. PMID:17368466

  16. Complexity of cis-regulatory organization of six3a during forebrain and eye development in zebrafish

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    Wang Horng-Dar

    2010-03-01

    Full Text Available Abstract Background Six3a belongs to the SIX family of homeodomain proteins and is expressed in the most anterior neural plate at the beginning of neurogenesis in various species. Though the function of Six3a as a crucial regulator of eye and forebrain development has been thoroughly investigated, the transcriptional regulation of six3a is not well understood. Results To elucidate the transcriptional regulation of six3a, we performed an in vivo reporter assay. Alignment of the 21-kb region surrounding the zebrafish six3a gene with the analogous region from different species identified several conserved non-coding modules. Transgenesis in zebrafish identified two enhancer elements and one suppressor. The D module drives the GFP reporter in the forebrain and eyes at an early stage, while the A module is responsible for the later expression. The A module also works as a repressor suppressing ectopic expression from the D module. Mutational analysis further minimized the A module to four highly conserved elements and the D module to three elements. Using electrophoresis mobility shift assays, we also provided evidence for the presence of DNA-binding proteins in embryonic nuclear extracts. The transcription factors that may occupy those highly conserved elements were also predicted. Conclusion This study provides a comprehensive view of six3a transcription regulation during brain and eye development and offers an opportunity to establish the gene regulatory networks underlying neurogenesis in zebrafish.

  17. Two negative cis-regulatory regions involved in fruit-specific promoter activity from watermelon (Citrullus vulgaris S.).

    Science.gov (United States)

    Yin, Tao; Wu, Hanying; Zhang, Shanglong; Lu, Hongyu; Zhang, Lingxiao; Xu, Yong; Chen, Daming; Liu, Jingmei

    2009-01-01

    A 1.8 kb 5'-flanking region of the large subunit of ADP-glucose pyrophosphorylase, isolated from watermelon (Citrullus vulgaris S.), has fruit-specific promoter activity in transgenic tomato plants. Two negative regulatory regions, from -986 to -959 and from -472 to -424, were identified in this promoter region by fine deletion analyses. Removal of both regions led to constitutive expression in epidermal cells. Gain-of-function experiments showed that these two regions were sufficient to inhibit RFP (red fluorescent protein) expression in transformed epidermal cells when fused to the cauliflower mosaic virus (CaMV) 35S minimal promoter. Gel mobility shift experiments demonstrated the presence of leaf nuclear factors that interact with these two elements. A TCCAAAA motif was identified in these two regions, as well as one in the reverse orientation, which was confirmed to be a novel specific cis-element. A quantitative beta-glucuronidase (GUS) activity assay of stable transgenic tomato plants showed that the activities of chimeric promoters harbouring only one of the two cis-elements, or both, were approximately 10-fold higher in fruits than in leaves. These data confirm that the TCCAAAA motif functions as a fruit-specific element by inhibiting gene expression in leaves.

  18. Finite element analysis of a novel pin-sleeve system for external fixation of distal limb fractures in horses.

    Science.gov (United States)

    Brianza, Stefano; Brighenti, Vittoria; Lansdowne, Jennifer L; Schwieger, Karsten; Bouré, Ludovic

    2011-11-01

    The transfixation pin cast (TPC) is an external skeletal fixation technique used to treat horses with distal limb fractures, but its use is often associated with pin-loosening and an increased risk of treatment failure. To address implant loosening, the pin sleeve cast system (PSC) was recently designed and consists of a pin-sleeve unit inserted into the bone. Each pin runs through a sleeve placed in the bone, making contact at two fixed points only within the sleeve. Each pin is attached to a ring embedded in a resin cast. In this report, the mechanical performance of a traditional TPC pin arrangement was compared with that of the PSC using validated finite element models of bone substitutes previously tested in vitro. The PSC resulted in a marked reduction in peak strain magnitude around the pins and a more even distribution of strain across the bone cortex. The two systems resulted in comparable proximal fragment displacement and had a similar stress concentration around bone defects during implant removal. The findings suggest that the PSC load transfer mechanism is effective even in geometrically complex structures like equine bones. Copyright © 2010 Elsevier Ltd. All rights reserved.

  19. Cis-regulatory control of the nuclear receptor Coup-TF gene in the sea urchin Paracentrotus lividus embryo.

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    Lamprini G Kalampoki

    Full Text Available Coup-TF, an orphan member of the nuclear receptor super family, has a fundamental role in the development of metazoan embryos. The study of the gene's regulatory circuit in the sea urchin embryo will facilitate the placement of this transcription factor in the well-studied embryonic Gene Regulatory Network (GRN. The Paracentrotus lividus Coup-TF gene (PlCoup-TF is expressed throughout embryonic development preferentially in the oral ectoderm of the gastrula and the ciliary band of the pluteus stage. Two overlapping λ genomic clones, containing three exons and upstream sequences of PlCoup-TF, were isolated from a genomic library. The transcription initiation site was determined and 5' deletions and individual segments of a 1930 bp upstream region were placed ahead of a GFP reporter cassette and injected into fertilized P.lividus eggs. Module a (-532 to -232, was necessary and sufficient to confer ciliary band expression to the reporter. Comparison of P.lividus and Strongylocentrotus purpuratus upstream Coup-TF sequences, revealed considerable conservation, but none within module a. 5' and internal deletions into module a, defined a smaller region that confers ciliary band specific expression. Putative regulatory cis-acting elements (RE1, RE2 and RE3 within module a, were specifically bound by proteins in sea urchin embryonic nuclear extracts. Site-specific mutagenesis of these elements resulted in loss of reporter activity (RE1 or ectopic expression (RE2, RE3. It is proposed that sea urchin transcription factors, which bind these three regulatory sites, are necessary for spatial and quantitative regulation of the PlCoup-TF gene at pluteus stage sea urchin embryos. These findings lead to the future identification of these factors and to the hierarchical positioning of PlCoup-TF within the embryonic GRN.

  20. Prediction of similarly acting cis-regulatory modules by subsequence profiling and comparative genomics in Drosophila melanogaster and D.pseudoobscura.

    Science.gov (United States)

    Grad, Yonatan H; Roth, Frederick P; Halfon, Marc S; Church, George M

    2004-11-01

    To date, computational searches for cis-regulatory modules (CRMs) have relied on two methods. The first, phylogenetic footprinting, has been used to find CRMs in non-coding sequence, but does not directly link DNA sequence with spatio-temporal patterns of expression. The second, based on searches for combinations of transcription factor (TF) binding motifs, has been employed in genome-wide discovery of similarly acting enhancers, but requires prior knowledge of the set of TFs acting at the CRM and the TFs' binding motifs. We propose a method for CRM discovery that combines aspects of both approaches in an effort to overcome their individual limitations. By treating phylogenetically footprinted non-coding regions (PFRs) as proxies for CRMs, we endeavor to find PFRs near co-regulated genes that are comprised of similar short, conserved sequences. Using Markov chains as a convenient formulation to assess similarity, we develop a sampling algorithm to search a large group of PFRs for the most similar subset. When starting with a set of genes involved in Drosophila early blastoderm development and using phylogenetic comparisons of Drosophila melanogaster and D.pseudoobscura genomes, we show here that our algorithm successfully detects known CRMs. Further, we use our similarity metric, based on Markov chain discrimination, in a genome-wide search, and uncover additional known and many candidate early blastoderm CRMs. Software is available via http://arep.med.harvard.edu/enhancer

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

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    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.

  2. Mouse transgenesis identifies conserved functional enhancers and cis-regulatory motif in the vertebrate LIM homeobox gene Lhx2 locus.

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    Alison P Lee

    Full Text Available The vertebrate Lhx2 is a member of the LIM homeobox family of transcription factors. It is essential for the normal development of the forebrain, eye, olfactory system and liver as well for the differentiation of lymphoid cells. However, despite the highly restricted spatio-temporal expression pattern of Lhx2, nothing is known about its transcriptional regulation. In mammals and chicken, Crb2, Dennd1a and Lhx2 constitute a conserved linkage block, while the intervening Dennd1a is lost in the fugu Lhx2 locus. To identify functional enhancers of Lhx2, we predicted conserved noncoding elements (CNEs in the human, mouse and fugu Crb2-Lhx2 loci and assayed their function in transgenic mouse at E11.5. Four of the eight CNE constructs tested functioned as tissue-specific enhancers in specific regions of the central nervous system and the dorsal root ganglia (DRG, recapitulating partial and overlapping expression patterns of Lhx2 and Crb2 genes. There was considerable overlap in the expression domains of the CNEs, which suggests that the CNEs are either redundant enhancers or regulating different genes in the locus. Using a large set of CNEs (810 CNEs associated with transcription factor-encoding genes that express predominantly in the central nervous system, we predicted four over-represented 8-mer motifs that are likely to be associated with expression in the central nervous system. Mutation of one of them in a CNE that drove reporter expression in the neural tube and DRG abolished expression in both domains indicating that this motif is essential for expression in these domains. The failure of the four functional enhancers to recapitulate the complete expression pattern of Lhx2 at E11.5 indicates that there must be other Lhx2 enhancers that are either located outside the region investigated or divergent in mammals and fishes. Other approaches such as sequence comparison between multiple mammals are required to identify and characterize such enhancers.

  3. Comprehensive meta-analysis of Signal Transducers and Activators of Transcription (STAT genomic binding patterns discerns cell-specific cis-regulatory modules

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    Kang Keunsoo

    2013-01-01

    Full Text Available Abstract Background Cytokine-activated transcription factors from the STAT (Signal Transducers and Activators of Transcription family control common and context-specific genetic programs. It is not clear to what extent cell-specific features determine the binding capacity of seven STAT members and to what degree they share genetic targets. Molecular insight into the biology of STATs was gained from a meta-analysis of 29 available ChIP-seq data sets covering genome-wide occupancy of STATs 1, 3, 4, 5A, 5B and 6 in several cell types. Results We determined that the genomic binding capacity of STATs is primarily defined by the cell type and to a lesser extent by individual family members. For example, the overlap of shared binding sites between STATs 3 and 5 in T cells is greater than that between STAT5 in T cells and non-T cells. Even for the top 1,000 highly enriched STAT binding sites, ~15% of STAT5 binding sites in mouse female liver are shared by other STATs in different cell types while in T cells ~90% of STAT5 binding sites are co-occupied by STAT3, STAT4 and STAT6. In addition, we identified 116 cis-regulatory modules (CRM, which are recognized by all STAT members across cell types defining a common JAK-STAT signature. Lastly, in liver STAT5 binding significantly coincides with binding of the cell-specific transcription factors HNF4A, FOXA1 and FOXA2 and is associated with cell-type specific gene transcription. Conclusions Our results suggest that genomic binding of STATs is primarily determined by the cell type and further specificity is achieved in part by juxtaposed binding of cell-specific transcription factors.

  4. Influence of Implant Position on Stress Distribution in Implant-Assisted Distal Extension Removable Partial Dentures: A 3D Finite Element Analysis.

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    Yeganeh Memari

    2014-10-01

    Full Text Available Distal extension removable partial denture is a prosthesis with lack of distal dental support with a 13-fold difference in resiliency between the mucosa and the periodontal ligament, resulting in leverage during compression forces. It may be potentially destructive to the abutments and the surrounding tissues. The aim of this study was to assess the effect of implant location on stress distribution, in distal extension implant assisted removable partial dentures.Three-dimensional models of a bilateral distal extension partially edentulous mandible containing anterior teeth and first premolar in both sides of the arch, a partial removable denture and an implant (4×10mm were designed. With the aid of the finite element program ANSYS 8.0, the models were meshed and strictly vertical forces of 10 N were applied to each cusp tip. Displacement and von Mises Maps were plotted for visualization of results.When an implant was placed in the second premolar region, the highest stress on implant, abutment tooth and cancellous bone was shown. The lowest stress was shown on implant and bone in the 1(st molar area.Implants located in the first molar area showed the least distribution of stresses in the analyzed models.

  5. Influence of Implant Position on Stress Distribution in Implant-Assisted Distal Extension Removable Partial Dentures: A 3D Finite Element Analysis.

    Science.gov (United States)

    Memari, Yeganeh; Geramy, Allahyar; Fayaz, Amir; Rezvani Habib Abadi, Shirin; Mansouri, Yasaman

    2014-09-01

    Distal extension removable partial denture is a prosthesis with lack of distal dental support with a 13-fold difference in resiliency between the mucosa and the periodontal ligament, resulting in leverage during compression forces. It may be potentially destructive to the abutments and the surrounding tissues. The aim of this study was to assess the effect of implant location on stress distribution, in distal extension implant assisted removable partial dentures. Three-dimensional models of a bilateral distal extension partially edentulous mandible containing anterior teeth and first premolar in both sides of the arch, a partial removable denture and an implant (4×10mm) were designed. With the aid of the finite element program ANSYS 8.0, the models were meshed and strictly vertical forces of 10 N were applied to each cusp tip. Displacement and von Mises Maps were plotted for visualization of results. When an implant was placed in the second premolar region, the highest stress on implant, abutment tooth and cancellous bone was shown. The lowest stress was shown on implant and bone in the 1(st) molar area. Implants located in the first molar area showed the least distribution of stresses in the analyzed models.

  6. A three-dimensional finite element analysis of molar distalization with a palatal plate, pendulum, and headgear according to molar eruption stage

    Science.gov (United States)

    Kang, Ju-Man; Park, Jae Hyun; Bayome, Mohamed; Oh, Moonbee; Park, Chong Ook; Mo, Sung-Seo

    2016-01-01

    Objective This study aimed to (1) evaluate the effects of maxillary second and third molar eruption status on the distalization of first molars with a modified palatal anchorage plate (MPAP), and (2) compare the results to the outcomes of the use of a pendulum and that of a headgear using three-dimensional finite element analysis. Methods Three eruption stages were established: an erupting second molar at the cervical one-third of the first molar root (Stage 1), a fully erupted second molar (Stage 2), and an erupting third molar at the cervical one-third of the second molar root (Stage 3). Retraction forces were applied via three anchorage appliance models: an MPAP with bracket and archwire, a bone-anchored pendulum appliance, and cervical-pull headgear. Results An MPAP showed greater root movement of the first molar than crown movement, and this was more noticeable in Stages 2 and 3. With the other devices, the first molar showed distal tipping. Transversely, the first molar had mesial-out rotation with headgear and mesial-in rotation with the other devices. Vertically, the first molar was intruded with an MPAP, and extruded with the other appliances. Conclusions The second molar eruption stage had an effect on molar distalization, but the third molar follicle had no effect. The application of an MPAP may be an effective treatment option for maxillary molar distalization. PMID:27668192

  7. A variant in a Cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones

    DEFF Research Database (Denmark)

    Ure, Megan E; Heydari, Emma; Pan, Wanling

    2017-01-01

    The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Re...

  8. A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.

    Science.gov (United States)

    Ure, Megan E; Heydari, Emma; Pan, Wanling; Ramesh, Ajay; Rehman, Sabah; Morgan, Catherine; Pinsk, Maury; Erickson, Robin; Herrmann, Johannes M; Dimke, Henrik; Cordat, Emmanuelle; Lemaire, Mathieu; Walter, Michael; Alexander, R Todd

    2017-06-01

    The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Recently, renal CLDN14 expression was found to increase in response to increased plasma calcium, thereby inducing calciuria. We hypothesized therefore that some children with hypercalciuria and kidney stones harbor a CLDN14 variant that inappropriately increases gene expression. To test this hypothesis, we sequenced the CLDN14 risk haplotype in a cohort of children with idiopathic hypercalciuria and kidney stones. An intronic SNP was more frequent in affected children. Dual luciferase and cell-based assays demonstrated increased reporter or CLDN14 expression when this polymorphism was introduced. In silico studies predicted the SNP introduced a novel insulinoma-associated 1 (INSM1) transcription factor binding site. Consistent with this, repeating the dual luciferase assay in the presence of INSM1 further increased reporter expression. Our data suggest that children with the INSM1 binding site within the CLDN14 risk haplotype have a higher likelihood of hypercalciuria and kidney stones. Enhanced CLDN14 expression may play a role in the pathophysiology of their hypercalciuria. © 2017 Wiley Periodicals, Inc.

  9. All-polyethylene tibial components in distal femur limb-salvage surgery: a finite element analysis based on promising clinical outcomes.

    Science.gov (United States)

    Tang, Fan; Zhou, Yong; Zhang, Wenli; Min, Li; Shi, Rui; Luo, Yi; Duan, Hong; Tu, Chongqi

    2017-04-04

    Whether all-polyethylene tibial (APT) components are beneficial to patients who received distal femur limb-salvage surgery lacks high-quality clinical follow-up and mechanical evidence. This study aimed to investigate the biomechanics of the distal femur reconstructed with APT tumor knee prostheses using finite element (FE) analysis based on our previous, promising clinical outcome. Three-dimensional FE models that use APT and metal-backed tibial (MBT) prostheses to reconstruct distal femoral bone defects were developed and input into the Abaqus FEA software version 6.10.1. Mesh refinement tests and gait simulation with a single foot both in the upright and 15°-flexion positions with mechanical loading were conducted. Stress distribution analysis was compared between APT and MBT at the two static positions. For both prosthesis types, the stress was concentrated on the junction of the stem and shaft, and the maximum stress in the femoral axis base was more than 100 Mpa. The stress on the tibial surface was relatively distributed, which was 1-19 MPa. The stress on the tibial bone-cement layer of the APT prosthesis was approximately 20 times higher than that on the MBT prosthesis in the same region. The stress on the proximal tibial cancellous bone and cortical bone of the APT prosthesis was 3-5 times greater than that of the MBT prosthesis, and it was more distributed. Although the stress of bone-cement around the APT component is relatively high, the stress was better distributed at the polyethylene-cement-bone interface in APT than in MBT prosthesis, which effectively protects the proximal tibia in distal femur tumor knee prosthesis replacement. These results should be considered when selecting the appropriate tibial component for a patient, especially under the foreseeable conditions of osteoporosis.

  10. Comparative genome sequencing of Drosophila pseudoobscura: Chromosomal, gene, and cis-element evolution

    DEFF Research Database (Denmark)

    Richards, Stephen; Liu, Yue; Bettencourt, Brian R.

    2005-01-01

    years (Myr) since the pseudoobscura/melanogaster divergence. Genes expressed in the testes had higher amino acid sequence divergence than the genome-wide average, consistent with the rapid evolution of sex-specific proteins. Cis-regulatory sequences are more conserved than random and nearby sequences......We have sequenced the genome of a second Drosophila species, Drosophila pseudoobscura, and compared this to the genome sequence of Drosophila melanogaster, a primary model organism. Throughout evolution the vast majority of Drosophila genes have remained on the same chromosome arm, but within each...... between the species-but the difference is slight, suggesting that the evolution of cis-regulatory elements is flexible. Overall, a pattern of repeat-mediated chromosomal rearrangement, and high coadaptation of both male genes and cis-regulatory sequences emerges as important themes of genome divergence...

  11. Genome wide analysis reveals Zic3 interaction with distal regulatory elements of stage specific developmental genes in zebrafish.

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    Cecilia L Winata

    2013-10-01

    Full Text Available Zic3 regulates early embryonic patterning in vertebrates. Loss of Zic3 function is known to disrupt gastrulation, left-right patterning, and neurogenesis. However, molecular events downstream of this transcription factor are poorly characterized. Here we use the zebrafish as a model to study the developmental role of Zic3 in vivo, by applying a combination of two powerful genomics approaches--ChIP-seq and microarray. Besides confirming direct regulation of previously implicated Zic3 targets of the Nodal and canonical Wnt pathways, analysis of gastrula stage embryos uncovered a number of novel candidate target genes, among which were members of the non-canonical Wnt pathway and the neural pre-pattern genes. A similar analysis in zic3-expressing cells obtained by FACS at segmentation stage revealed a dramatic shift in Zic3 binding site locations and identified an entirely distinct set of target genes associated with later developmental functions such as neural development. We demonstrate cis-regulation of several of these target genes by Zic3 using in vivo enhancer assay. Analysis of Zic3 binding sites revealed a distribution biased towards distal intergenic regions, indicative of a long distance regulatory mechanism; some of these binding sites are highly conserved during evolution and act as functional enhancers. This demonstrated that Zic3 regulation of developmental genes is achieved predominantly through long distance regulatory mechanism and revealed that developmental transitions could be accompanied by dramatic changes in regulatory landscape.

  12. Standard of disocclusion in complete dentures supported by implants without free distal ends: analysis by the finite elements method

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    Gustavo Diniz Greco

    2012-02-01

    Full Text Available OBJECTIVE: The occlusal patterns are key requirements for the clinical success of oral rehabilitation supported by implants. This study compared the stresses generated by the disocclusion in the canine guide occlusion (CGO and bilateral balanced occlusion (BBO on the implants and metallic infrastructure of a complete Brånemark protocol-type denture modified with the inclusion of one posterior short implant on each side. MATERIAL AND METHODS: A three-dimensional model simulated a mandible with seven titanium implants as pillars, five of them installed between the mental foramen and the two posterior implants, located at the midpoint of the occlusal surface of the first molar. A load of 15 N with an angle of 45° was applied to a tooth or distributed across three teeth to simulate the CGO or BBO, respectively. The commercial program ABAQUS® was used for the model development, before and after the processing of the data. The results were based on a linear static analysis and were used to compare the magnitude of the equivalent stress for each of the simulations. RESULTS: The results showed that the disocclusion in CGO generated higher stresses concentrated on the working side in the region of the short implant. In BBO, the stresses were less intense and more evenly distributed on the prosthesis. The maximum stress found in the simulation of the disocclusion in CGO was two times higher than that found in the simulation of the BBO. The point of maximum stress was located in the neck of the short implant on the working side. CONCLUSIONS: Under the conditions of this study, it was concluded that the BBO pattern was more suitable than CGO for the lower complete denture supported by implants without free distal ends.

  13. Standard of disocclusion in complete dentures supported by implants without free distal ends: analysis by the finite elements method.

    Science.gov (United States)

    Greco, Gustavo Diniz; Las Casas, Estevam Barbosa de; Cornacchia, Tulimar P Machado; Magalhães, Cláudia Silami de; Moreira, Allyson Nogueira

    2012-02-01

    The occlusal patterns are key requirements for the clinical success of oral rehabilitation supported by implants. This study compared the stresses generated by the disocclusion in the canine guide occlusion (CGO) and bilateral balanced occlusion (BBO) on the implants and metallic infrastructure of a complete Brånemark protocol-type denture modified with the inclusion of one posterior short implant on each side. A three-dimensional model simulated a mandible with seven titanium implants as pillars, five of them installed between the mental foramen and the two posterior implants, located at the midpoint of the occlusal surface of the first molar. A load of 15 N with an angle of 45° was applied to a tooth or distributed across three teeth to simulate the CGO or BBO, respectively. The commercial program ABAQUS® was used for the model development, before and after the processing of the data. The results were based on a linear static analysis and were used to compare the magnitude of the equivalent stress for each of the simulations. The results showed that the disocclusion in CGO generated higher stresses concentrated on the working side in the region of the short implant. In BBO, the stresses were less intense and more evenly distributed on the prosthesis. The maximum stress found in the simulation of the disocclusion in CGO was two times higher than that found in the simulation of the BBO. The point of maximum stress was located in the neck of the short implant on the working side. Under the conditions of this study, it was concluded that the BBO pattern was more suitable than CGO for the lower complete denture supported by implants without free distal ends.

  14. A finite element evaluation of mechanical function for 3 distal extension partial dental prosthesis designs with a 3-dimensional nonlinear method for modeling soft tissue.

    Science.gov (United States)

    Nakamura, Yoshinori; Kanbara, Ryo; Ochiai, Kent T; Tanaka, Yoshinobu

    2014-10-01

    The mechanical evaluation of the function of partial removable dental prostheses with 3-dimensional finite element modeling requires the accurate assessment and incorporation of soft tissue behavior. The differential behaviors of the residual ridge mucosa and periodontal ligament tissues have been shown to exhibit nonlinear displacement. The mathematic incorporation of known values simulating nonlinear soft tissue behavior has not been investigated previously via 3-dimensional finite element modeling evaluation to demonstrate the effect of prosthesis design on the supporting tissues. The purpose of this comparative study was to evaluate the functional differences of 3 different partial removable dental prosthesis designs with 3-dimensional finite element analysis modeling and a simulated patient model incorporating known viscoelastic, nonlinear soft tissue properties. Three different designs of distal extension removable partial dental prostheses were analyzed. The stress distributions to the supporting abutments and soft tissue displacements of the designs tested were calculated and mechanically compared. Among the 3 dental designs evaluated, the RPI prosthesis demonstrated the lowest stress concentrations on the tissue supporting the tooth abutment and also provided wide mucosa-borne areas of support, thereby demonstrating a mechanical advantage and efficacy over the other designs evaluated. The data and results obtained from this study confirmed that the functional behavior of partial dental prostheses with supporting abutments and soft tissues are consistent with the conventional theories of design and clinical experience. The validity and usefulness of this testing method for future applications and testing protocols are shown. Copyright © 2014 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

  15. Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.

    Directory of Open Access Journals (Sweden)

    Jessica Zuin

    2017-12-01

    Full Text Available Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdLS. Other mutations are described in the cohesin subunits SMC1A, RAD21, SMC3 and the HDAC8 protein. In 25-30% of CdLS cases no mutation in the known CdLS genes is detected. Until now, functional elements in the noncoding genome were not characterized in the molecular etiology of CdLS and therefore are excluded from mutation screening, although the impact of such mutations has now been recognized for a wide range of diseases. We have identified different elements of the noncoding genome involved in regulation of the NIPBL gene. NIPBL-AS1 is a long non-coding RNA transcribed upstream and antisense to NIPBL. By knockdown and transcription blocking experiments, we could show that not the NIPBL-AS1 gene product, but its actual transcription is important to regulate NIPBL expression levels. This reveals a possibility to boost the transcriptional activity of the NIPBL gene by interfering with the NIPBL-AS1 lncRNA. Further, we have identified a novel distal enhancer regulating both NIPBL and NIPBL-AS1. Deletion of the enhancer using CRISPR genome editing in HEK293T cells reduces expression of NIPBL, NIPBL-AS1 as well as genes found to be dysregulated in CdLS.

  16. Contribution of transposable elements and distal enhancers to evolution of human-specific features of interphase chromatin architecture in embryonic stem cells.

    Science.gov (United States)

    Glinsky, Gennadi V

    2018-03-01

    regulatory complexity and functional precision of GRNs by creating predominantly a single gene (or a set of functionally linked genes) per regulatory domain structures. Collectively, present analyses reveal critical evolutionary contributions of transposable elements and distal enhancers to creation of thousands primate- and human-specific elements of a chromatin folding code, which defines the 3D context of interphase chromatin both restricting and facilitating biological functions of GRNs.

  17. Differences in the stress distribution in the distal femur between patellofemoral joint replacement and total knee replacement: a finite element study

    NARCIS (Netherlands)

    van Jonbergen, H.P.; Innocenti, B.; Gervasi, G.L.; Labey, L.; Verdonschot, N.J.

    2012-01-01

    BACKGROUND: Patellofemoral joint replacement is a successful treatment option for isolated patellofemoral osteoarthritis. However, results of later conversion to total knee replacement may be compromised by periprosthetic bone loss. Previous clinical studies have demonstrated a decrease in distal

  18. Genomic Identification and Analysis of Shared Cis-regulator Elements in a Developmentally Critical homeobox Cluster

    Energy Technology Data Exchange (ETDEWEB)

    Chris Amemiya

    2003-04-01

    The goals of this project were to isolate, characterize, and sequence the Dlx3/Dlx7 bigene cluster from twelve different species of mammals. The Dlx3 and Dlx7 genes are known to encode homeobox transcription factors involved in patterning of structures in the vertebrate jaw as well as vertebrate limbs. Genomic sequences from the respective taxa will subsequently be compared in order to identify conserved non-coding sequences that are potential cis-regulatory elements. Based on the comparisons they will fashion transgenic mouse experiments to functionally test the strength of the potential cis-regulatory elements. A goal of the project is to attempt to identify those elements that may function in coordinately regulating both Dlx3 and Dlx7 functions.

  19. CONDOR: a database resource of developmentally associated conserved non-coding elements

    Directory of Open Access Journals (Sweden)

    Smith Sarah

    2007-08-01

    Full Text Available Abstract Background Comparative genomics is currently one of the most popular approaches to study the regulatory architecture of vertebrate genomes. Fish-mammal genomic comparisons have proved powerful in identifying conserved non-coding elements likely to be distal cis-regulatory modules such as enhancers, silencers or insulators that control the expression of genes involved in the regulation of early development. The scientific community is showing increasing interest in characterizing the function, evolution and language of these sequences. Despite this, there remains little in the way of user-friendly access to a large dataset of such elements in conjunction with the analysis and the visualization tools needed to study them. Description Here we present CONDOR (COnserved Non-coDing Orthologous Regions available at: http://condor.fugu.biology.qmul.ac.uk. In an interactive and intuitive way the website displays data on > 6800 non-coding elements associated with over 120 early developmental genes and conserved across vertebrates. The database regularly incorporates results of ongoing in vivo zebrafish enhancer assays of the CNEs carried out in-house, which currently number ~100. Included and highlighted within this set are elements derived from duplication events both at the origin of vertebrates and more recently in the teleost lineage, thus providing valuable data for studying the divergence of regulatory roles between paralogs. CONDOR therefore provides a number of tools and facilities to allow scientists to progress in their own studies on the function and evolution of developmental cis-regulation. Conclusion By providing access to data with an approachable graphics interface, the CONDOR database presents a rich resource for further studies into the regulation and evolution of genes involved in early development.

  20. Prediction of transcriptional regulatory elements for plant hormone responses based on microarray data

    Directory of Open Access Journals (Sweden)

    Yamaguchi-Shinozaki Kazuko

    2011-02-01

    Full Text Available Abstract Background Phytohormones organize plant development and environmental adaptation through cell-to-cell signal transduction, and their action involves transcriptional activation. Recent international efforts to establish and maintain public databases of Arabidopsis microarray data have enabled the utilization of this data in the analysis of various phytohormone responses, providing genome-wide identification of promoters targeted by phytohormones. Results We utilized such microarray data for prediction of cis-regulatory elements with an octamer-based approach. Our test prediction of a drought-responsive RD29A promoter with the aid of microarray data for response to drought, ABA and overexpression of DREB1A, a key regulator of cold and drought response, provided reasonable results that fit with the experimentally identified regulatory elements. With this succession, we expanded the prediction to various phytohormone responses, including those for abscisic acid, auxin, cytokinin, ethylene, brassinosteroid, jasmonic acid, and salicylic acid, as well as for hydrogen peroxide, drought and DREB1A overexpression. Totally 622 promoters that are activated by phytohormones were subjected to the prediction. In addition, we have assigned putative functions to 53 octamers of the Regulatory Element Group (REG that have been extracted as position-dependent cis-regulatory elements with the aid of their feature of preferential appearance in the promoter region. Conclusions Our prediction of Arabidopsis cis-regulatory elements for phytohormone responses provides guidance for experimental analysis of promoters to reveal the basis of the transcriptional network of phytohormone responses.

  1. Predicting combinatorial binding of transcription factors to regulatory elements in the human genome by association rule mining

    OpenAIRE

    Morgan, Xochitl C; Ni, Shulin; Miranker, Daniel P; Iyer, Vishwanath R

    2007-01-01

    Abstract Background Cis-acting transcriptional regulatory elements in mammalian genomes typically contain specific combinations of binding sites for various transcription factors. Although some cis-regulatory elements have been well studied, the combinations of transcription factors that regulate normal expression levels for the vast majority of the 20,000 genes in the human genome are unknown. We hypothesized that it should be possible to discover transcription factor combinations that regul...

  2. Repetitive Elements in Mycoplasma hyopneumoniae Transcriptional Regulation.

    Directory of Open Access Journals (Sweden)

    Amanda Malvessi Cattani

    Full Text Available Transcriptional regulation, a multiple-step process, is still poorly understood in the important pig pathogen Mycoplasma hyopneumoniae. Basic motifs like promoters and terminators have already been described, but no other cis-regulatory elements have been found. DNA repeat sequences have been shown to be an interesting potential source of cis-regulatory elements. In this work, a genome-wide search for tandem and palindromic repetitive elements was performed in the intergenic regions of all coding sequences from M. hyopneumoniae strain 7448. Computational analysis demonstrated the presence of 144 tandem repeats and 1,171 palindromic elements. The DNA repeat sequences were distributed within the 5' upstream regions of 86% of transcriptional units of M. hyopneumoniae strain 7448. Comparative analysis between distinct repetitive sequences found in related mycoplasma genomes demonstrated different percentages of conservation among pathogenic and nonpathogenic strains. qPCR assays revealed differential expression among genes showing variable numbers of repetitive elements. In addition, repeats found in 206 genes already described to be differentially regulated under different culture conditions of M. hyopneumoniae strain 232 showed almost 80% conservation in relation to M. hyopneumoniae strain 7448 repeats. Altogether, these findings suggest a potential regulatory role of tandem and palindromic DNA repeats in the M. hyopneumoniae transcriptional profile.

  3. Repetitive Elements in Mycoplasma hyopneumoniae Transcriptional Regulation.

    Science.gov (United States)

    Cattani, Amanda Malvessi; Siqueira, Franciele Maboni; Guedes, Rafael Lucas Muniz; Schrank, Irene Silveira

    2016-01-01

    Transcriptional regulation, a multiple-step process, is still poorly understood in the important pig pathogen Mycoplasma hyopneumoniae. Basic motifs like promoters and terminators have already been described, but no other cis-regulatory elements have been found. DNA repeat sequences have been shown to be an interesting potential source of cis-regulatory elements. In this work, a genome-wide search for tandem and palindromic repetitive elements was performed in the intergenic regions of all coding sequences from M. hyopneumoniae strain 7448. Computational analysis demonstrated the presence of 144 tandem repeats and 1,171 palindromic elements. The DNA repeat sequences were distributed within the 5' upstream regions of 86% of transcriptional units of M. hyopneumoniae strain 7448. Comparative analysis between distinct repetitive sequences found in related mycoplasma genomes demonstrated different percentages of conservation among pathogenic and nonpathogenic strains. qPCR assays revealed differential expression among genes showing variable numbers of repetitive elements. In addition, repeats found in 206 genes already described to be differentially regulated under different culture conditions of M. hyopneumoniae strain 232 showed almost 80% conservation in relation to M. hyopneumoniae strain 7448 repeats. Altogether, these findings suggest a potential regulatory role of tandem and palindromic DNA repeats in the M. hyopneumoniae transcriptional profile.

  4. Appendicular and whole body lean mass outcomes are associated with finite element analysis-derived bone strength at the distal radius and tibia in adults aged 40years and older.

    Science.gov (United States)

    Gibbs, Jenna C; Giangregorio, Lora M; Wong, Andy K O; Josse, Robert G; Cheung, Angela M

    2017-10-01

    The purpose of this cross-sectional study was to determine how appendicular lean mass index (ALMI), and whole body lean (LMI) and fat mass indices (FMI) associate with estimated bone strength outcomes at the distal radius and tibia in adults aged 40 years and older. Dual energy X-ray absorptiometry (DXA) scans were performed to determine body composition, including whole body lean and fat mass, and appendicular lean mass. ALMI (appendicular lean mass/height 2 ), LMI (lean tissue mass/height 2 ) and FMI (fat mass/height 2 ) were calculated. High-resolution peripheral quantitative computed tomography (HRpQCT) scans were performed to assess bone structural properties at the distal radius and tibia. Using finite element analysis, failure load (N), stiffness (N/mm), ultimate stress (MPa), and cortical-to-trabecular load ratio were estimated from HRpQCT scans. The associations between body composition (ALMI, LMI, FMI) and estimated bone strength were examined using bivariate and multivariable linear regression analyses adjusting for age, sex, and other confounding variables. In 197 participants (127 women; mean±SD, age: 69.5±10.3y, body mass index: 27.95±4.95kg/m 2 , ALMI: 7.31±1.31kg/m 2 ), ALMI and LMI were significantly associated with failure load at the distal radius and tibia (explained 39%-48% of the variance) and remained significant after adjusting for confounding variables and multiple testing (R 2 =0.586-0.645, p<0.001). ALMI, LMI, and FMI did not have significant associations with ultimate stress in our multivariable models. FMI was significantly associated with cortical-to-trabecular load ratio at the distal radius and tibia (explained 6%-12% of the variance) and remained significant after adjusting for confounders and multiple testing (R 2 =0.208-0.243, p<0.001). FMI was no longer significantly associated with failure load after adjusting for confounders. These findings suggest that ALMI and LMI are important determinants of estimated bone strength

  5. Comparative genome sequencing of drosophila pseudoobscura: Chromosomal, gene and cis-element evolution

    Energy Technology Data Exchange (ETDEWEB)

    Richards, Stephen; Liu, Yue; Bettencourt, Brian R.; Hradecky, Pavel; Letovsky, Stan; Nielsen, Rasmus; Thornton, Kevin; Todd, Melissa J.; Chen, Rui; Meisel, Richard P.; Couronne, Olivier; Hua, Sujun; Smith, Mark A.; Bussemaker, Harmen J.; van Batenburg, Marinus F.; Howells, Sally L.; Scherer, Steven E.; Sodergren, Erica; Matthews, Beverly B.; Crosby, Madeline A.; Schroeder, Andrew J.; Ortiz-Barrientos, Daniel; Rives, Catherine M.; Metzker, Michael L.; Muzny, Donna M.; Scott, Graham; Steffen, David; Wheeler, David A.; Worley, Kim C.; Havlak, Paul; Durbin, K. James; Egan, Amy; Gill, Rachel; Hume, Jennifer; Morgan, Margaret B.; Miner, George; Hamilton, Cerissa; Huang, Yanmei; Waldron, Lenee; Verduzco, Daniel; Blankenburg, Kerstin P.; Dubchak, Inna; Noor, Mohamed A.F.; Anderson, Wyatt; White, Kevin P.; Clark, Andrew G.; Schaeffer, Stephen W.; Gelbart, William; Weinstock, George M.; Gibbs, Richard A.

    2004-04-01

    The genome sequence of a second fruit fly, D. pseudoobscura, presents an opportunity for comparative analysis of a primary model organism D. melanogaster. The vast majority of Drosophila genes have remained on the same arm, but within each arm gene order has been extensively reshuffled leading to the identification of approximately 1300 syntenic blocks. A repetitive sequence is found in the D. pseudoobscura genome at many junctions between adjacent syntenic blocks. Analysis of this novel repetitive element family suggests that recombination between offset elements may have given rise to many paracentric inversions, thereby contributing to the shuffling of gene order in the D. pseudoobscura lineage. Based on sequence similarity and synteny, 10,516 putative orthologs have been identified as a core gene set conserved over 35 My since divergence. Genes expressed in the testes had higher amino acid sequence divergence than the genome wide average consistent with the rapid evolution of sex-specific proteins. Cis-regulatory sequences are more conserved than control sequences between the species but the difference is slight, suggesting that the evolution of cis-regulatory elements is flexible. Overall, a picture of repeat mediated chromosomal rearrangement, and high co-adaptation of both male genes and cis-regulatory sequences emerges as important themes of genome divergence between these species of Drosophila.

  6. In silico discovery of transcription regulatory elements in Plasmodium falciparum

    Directory of Open Access Journals (Sweden)

    Le Roch Karine G

    2008-02-01

    Full Text Available Abstract Background With the sequence of the Plasmodium falciparum genome and several global mRNA and protein life cycle expression profiling projects now completed, elucidating the underlying networks of transcriptional control important for the progression of the parasite life cycle is highly pertinent to the development of new anti-malarials. To date, relatively little is known regarding the specific mechanisms the parasite employs to regulate gene expression at the mRNA level, with studies of the P. falciparum genome sequence having revealed few cis-regulatory elements and associated transcription factors. Although it is possible the parasite may evoke mechanisms of transcriptional control drastically different from those used by other eukaryotic organisms, the extreme AT-rich nature of P. falciparum intergenic regions (~90% AT presents significant challenges to in silico cis-regulatory element discovery. Results We have developed an algorithm called Gene Enrichment Motif Searching (GEMS that uses a hypergeometric-based scoring function and a position-weight matrix optimization routine to identify with high-confidence regulatory elements in the nucleotide-biased and repeat sequence-rich P. falciparum genome. When applied to promoter regions of genes contained within 21 co-expression gene clusters generated from P. falciparum life cycle microarray data using the semi-supervised clustering algorithm Ontology-based Pattern Identification, GEMS identified 34 putative cis-regulatory elements associated with a variety of parasite processes including sexual development, cell invasion, antigenic variation and protein biosynthesis. Among these candidates were novel motifs, as well as many of the elements for which biological experimental evidence already exists in the Plasmodium literature. To provide evidence for the biological relevance of a cell invasion-related element predicted by GEMS, reporter gene and electrophoretic mobility shift assays

  7. The developmental activation of the chicken lysozyme locus in transgenic mice requires the interaction of a subset of enhancer elements with the promoter.

    OpenAIRE

    Huber, M C; Jägle, U; Krüger, G; Bonifer, C

    1997-01-01

    The complete chicken lysozyme locus is expressed in a position independent fashion in macrophages of transgenic mice and forms the identical chromatin structure as observed with the endogenous gene in chicken cells. Individual lysozyme cis -regulatory elements reorganize their chromatin structure at different developmental stages. Accordingly, their activities are developmentally regulated, indicating a differential role of these elements in locus activation. We have shown previously that a s...

  8. Regulatory elements of the floral homeotic gene AGAMOUS identified by phylogenetic footprinting and shadowing.

    Energy Technology Data Exchange (ETDEWEB)

    Hong, R. L., Hamaguchi, L., Busch, M. A., and Weigel, D.

    2003-06-01

    OAK-B135 In Arabidopsis thaliana, cis-regulatory sequences of the floral homeotic gene AGAMOUS (AG) are located in the second intron. This 3 kb intron contains binding sites for two direct activators of AG, LEAFY (LFY) and WUSCHEL (WUS), along with other putative regulatory elements. We have used phylogenetic footprinting and the related technique of phylogenetic shadowing to identify putative cis-regulatory elements in this intron. Among 29 Brassicaceae, several other motifs, but not the LFY and WUS binding sites previously identified, are largely invariant. Using reporter gene analyses, we tested six of these motifs and found that they are all functionally important for activity of AG regulatory sequences in A. thaliana. Although there is little obvious sequence similarity outside the Brassicaceae, the intron from cucumber AG has at least partial activity in A. thaliana. Our studies underscore the value of the comparative approach as a tool that complements gene-by-gene promoter dissection, but also highlight that sequence-based studies alone are insufficient for a complete identification of cis-regulatory sites.

  9. Pictorial essay: Distal colostography

    Directory of Open Access Journals (Sweden)

    Rahalkar Mukund

    2010-01-01

    Full Text Available Distal colostography (DC, also called distal colography or loopography, is an important step in the reparative management of anorectal malformations (ARMs with imperforate anus, Hirschsprung′s disease (occasionally and colonic atresia (rarely in children and obstructive disorders of the distal colon (colitis with stricture, carcinoma or complicated diverticulosis in adults. It serves to identify/confirm the type of ARM, presence/absence of fistulae, leakage from anastomoses, or patency of the distal colon. We present a pictorial essay of DC in a variety of cases.

  10. Distal digital replantation.

    Science.gov (United States)

    Jazayeri, Leila; Klausner, Jill Q; Chang, James

    2013-11-01

    Hand surgeons have been hesitant to perform distal digital replantation because of the technical challenges and the perception of a high cost-to-benefit ratio. Recent studies, however, have shown high survival rates and excellent functional and aesthetic results, providing renewed enthusiasm for distal replantation. The authors reviewed the literature and summarize key points regarding the surgical treatment, perioperative care, and outcomes of distal digital replantation. They describe specific techniques and considerations for surgical repair in each of four distal zones as described by Sebastin and Chung. Zone 1A replantation involves an artery-only anastomosis of a longitudinal pulp artery. Venous anastomosis first becomes possible in zone 1B. Zone 1C involves periarticular amputations where arthrodesis of the distal interphalangeal joint is usually indicated. Repair of the artery, vein, and nerve is technically optimal in zone 1D, where venous anastomosis should be performed. Overall, survival rates for distal digital replantation are similar to those reported for more proximal replantation. The literature reports good outcomes regarding nail salvage, fingertip sensibility, and range of motion, with restoration of length and aesthetic appearance. Distal replantation performed at institutions that specialize in microsurgery and specifically tailored to the level of injury is associated with good survival, function, and patient satisfaction and superior aesthetic outcome. More prospective data are needed to evaluate the cost of treatment, psychological outcomes, and functional outcomes of distal replantation compared with revision amputation.

  11. Three-dimensional finite element analysis of posterior fiber-reinforced composite fixed partial denture Part 2: influence of fiber reinforcement on mesial and distal connectors.

    Science.gov (United States)

    Aida, Nobuhisa; Shinya, Akikazu; Yokoyama, Daiichiro; Lassila, Lippo V J; Gomi, Harunori; Vallittu, Pekka K; Shinya, Akiyoshi

    2011-01-01

    The aim of this study was to evaluate the influence of connectors under two different loading conditions on displacement and stress distribution generated in isotropic hybrid composite fixed partial denture (C-FPD) and partially anisotropic fiber-reinforced hybrid composite fixed partial denture (FRC-FPD). To this end, two three-dimensional finite element (FE) models of three-unit FPD from mandibular second premolar to mandibular second molar - intended to replace the mandibular first molar - were developed. The two loading conditions employed were a vertical load of 629 N (applied to eight points on the occlusal surface) and a lateral load of 250 N (applied to three points of the pontic). The results suggested that the reinforcing fibers in FRC framework significantly improved the rigidity of the connectors against any twisting and bending moments induced by loading. Consequently, maximum principal stress and displacement generated in the connectors of FRC-FPD were significantly reduced because stresses generated by vertical and lateral loading were transferred to the reinforcing fibers.

  12. Transgenes of the Mouse Immunoglobulin Heavy Chain Locus, Lacking Distal Elements in the 3′ Regulatory Region, Are Impaired for Class Switch Recombination

    Science.gov (United States)

    Dunnick, Wesley A.; Shi, Jian; Fontaine, Clinton; Collins, John T.

    2013-01-01

    The immunoglobulin heavy (H) chain class switch is mediated by a deletional recombination event between µ and γ, α, or ε constant region genes. This recombination event is upregulated during immune responses by a regulatory region that lies 3′ of the constant region genes. We study switch recombination using a transgene of the entire murine H chain constant region locus. We isolated two lines of mice in which the H chain transgenes were truncated at their 3′ ends. The truncation in both transgenic lines results in deletion of the 3′-most enhancer (HS4) and a region with insulator-like structure and activities. Even though both truncated transgenes express the µ H chain gene well, they undergo very low or undetectable switch recombination to transgenic γ and α constant region genes. For both transgenic lines, germline transcription of some H chain constant regions genes is severely impaired. However, the germline transcription of the γ1 and γ2a genes is at wild type levels for the transgenic line with the larger truncation, but at reduced levels for the transgenic line with the smaller truncation. The dramatic reduction in class switch recombination for all H chain genes and the varied reduction in germline transcription for some H chain genes could be caused by (i) insertion site effects or (ii) deletion of enhancer elements for class switch recombination and transcription, or (iii) a combination of both effects. PMID:23409061

  13. Transgenes of the mouse immunoglobulin heavy chain locus, lacking distal elements in the 3' regulatory region, are impaired for class switch recombination.

    Science.gov (United States)

    Dunnick, Wesley A; Shi, Jian; Fontaine, Clinton; Collins, John T

    2013-01-01

    The immunoglobulin heavy (H) chain class switch is mediated by a deletional recombination event between µ and γ, α, or ε constant region genes. This recombination event is upregulated during immune responses by a regulatory region that lies 3' of the constant region genes. We study switch recombination using a transgene of the entire murine H chain constant region locus. We isolated two lines of mice in which the H chain transgenes were truncated at their 3' ends. The truncation in both transgenic lines results in deletion of the 3'-most enhancer (HS4) and a region with insulator-like structure and activities. Even though both truncated transgenes express the µ H chain gene well, they undergo very low or undetectable switch recombination to transgenic γ and α constant region genes. For both transgenic lines, germline transcription of some H chain constant regions genes is severely impaired. However, the germline transcription of the γ1 and γ2a genes is at wild type levels for the transgenic line with the larger truncation, but at reduced levels for the transgenic line with the smaller truncation. The dramatic reduction in class switch recombination for all H chain genes and the varied reduction in germline transcription for some H chain genes could be caused by (i) insertion site effects or (ii) deletion of enhancer elements for class switch recombination and transcription, or (iii) a combination of both effects.

  14. High constitutive activity of a broad panel of housekeeping and tissue-specificcis-regulatory elements depends on a subset of ETS proteins.

    Science.gov (United States)

    Curina, Alessia; Termanini, Alberto; Barozzi, Iros; Prosperini, Elena; Simonatto, Marta; Polletti, Sara; Silvola, Alessio; Soldi, Monica; Austenaa, Liv; Bonaldi, Tiziana; Ghisletti, Serena; Natoli, Gioacchino

    2017-02-15

    Enhancers and promoters that control the transcriptional output of terminally differentiated cells include cell type-specific and broadly active housekeeping elements. Whether the high constitutive activity of these two groups of cis -regulatory elements relies on entirely distinct or instead also on shared regulators is unknown. By dissecting the cis -regulatory repertoire of macrophages, we found that the ELF subfamily of ETS proteins selectively bound within 60 base pairs (bp) from the transcription start sites of highly active housekeeping genes. ELFs also bound constitutively active, but not poised, macrophage-specific enhancers and promoters. The role of ELFs in promoting high-level constitutive transcription was suggested by multiple evidence: ELF sites enabled robust transcriptional activation by endogenous and minimal synthetic promoters, ELF recruitment was stabilized by the transcriptional machinery, and ELF proteins mediated recruitment of transcriptional and chromatin regulators to core promoters. These data suggest that the co-optation of a limited number of highly active transcription factors represents a broadly adopted strategy to equip both cell type-specific and housekeeping cis -regulatory elements with the ability to efficiently promote transcription. © 2017 Curina et al.; Published by Cold Spring Harbor Laboratory Press.

  15. Structure and mechanical properties of Cresco-Ti laser-welded joints and stress analyses using finite element models of fixed distal extension and fixed partial prosthetic designs.

    Science.gov (United States)

    Uysal, Hakan; Kurtoglu, Cem; Gurbuz, Riza; Tutuncu, Naki

    2005-03-01

    The Cresco-Ti System uses a laser-welded process that provides an efficient technique to achieve passive fit frameworks. However, mechanical behavior of the laser-welded joint under biomechanical stress factors has not been demonstrated. This study describes the effect of Cresco-Ti laser-welding conditions on the material properties of the welded specimen and analyzes stresses on the weld joint through 3-dimensional finite element models (3-D FEM) of implant-supported fixed dentures with cantilever extensions and fixed partial denture designs. Twenty Grade III (ASTM B348) commercially pure titanium specimens were machine-milled to the dimensions described in the EN10002-1 tensile test standard and divided into test (n = 10) and control (n = 10) groups. The test specimens were sectioned and laser-welded. All specimens were subjected to tensile testing to determine yield strength (YS), ultimate tensile strength (UTS), and percent elongation (PE). The Knoop micro-indentation test was performed to determine the hardness of all specimens. On welded specimens, the hardness test was performed at the welded surface. Data were analyzed with the Mann-Whitney U test and Student's t test (alpha=.05). Fracture surfaces were examined by scanning electron microscopy to characterize the mode of fracture and identify defects due to welding. Three-dimensional FEMs were created that simulated a fixed denture with cantilever extensions supported by 5 implants (M1) and a fixed partial denture supported by 2 implants (M2), 1 of which was angled 30 degrees mesio-axially. An oblique load of 400 N with 15 degrees lingual-axial inclinations was applied to both models at various locations. Test specimens fractured between the weld and the parent material. No porosities were observed on the fractured surfaces. Mean values for YS, UTS, PE, and Knoop hardness were 428 +/- 88 MPa, 574 +/- 113 MPa, 11.2 +/- 0.4%, 270 +/- 17 KHN, respectively, for the control group and 642 +/- 2 MPa, 772 +/- 72

  16. Giant distal humeral geode

    International Nuclear Information System (INIS)

    Maher, M.M.; Kennedy, J.; Hynes, D.; Murray, J.G.; O'Connell, D.

    2000-01-01

    We describe the imaging features of a giant geode of the distal humerus in a patient with rheumatoid arthritis, which presented initially as a pathological fracture. The value of magnetic resonance imaging in establishing this diagnosis is emphasized. (orig.)

  17. Distal driving of molar by smart distal-propeller appliance

    Directory of Open Access Journals (Sweden)

    U H Vijayashree

    2018-01-01

    Full Text Available In recent years, maxillary molar distalization with noncompliance mechanics has been an increasingly popular method for the resolution of Class II malocclusion. This communication describes one particular molar distalizing appliance, the Smart distal-propeller appliance which is simple, inexpensive, easily fabricated that can be used for unilateral or bilateral molar distalization.

  18. Close Sequence Comparisons are Sufficient to Identify Humancis-Regulatory Elements

    Energy Technology Data Exchange (ETDEWEB)

    Prabhakar, Shyam; Poulin, Francis; Shoukry, Malak; Afzal, Veena; Rubin, Edward M.; Couronne, Olivier; Pennacchio, Len A.

    2005-12-01

    Cross-species DNA sequence comparison is the primary method used to identify functional noncoding elements in human and other large genomes. However, little is known about the relative merits of evolutionarily close and distant sequence comparisons, due to the lack of a universal metric for sequence conservation, and also the paucity of empirically defined benchmark sets of cis-regulatory elements. To address this problem, we developed a general-purpose algorithm (Gumby) that detects slowly-evolving regions in primate, mammalian and more distant comparisons without requiring adjustment of parameters, and ranks conserved elements by P-value using Karlin-Altschul statistics. We benchmarked Gumby predictions against previously identified cis-regulatory elements at diverse genomic loci, and also tested numerous extremely conserved human-rodent sequences for transcriptional enhancer activity using reporter-gene assays in transgenic mice. Human regulatory elements were identified with acceptable sensitivity and specificity by comparison with 1-5 other eutherian mammals or 6 other simian primates. More distant comparisons (marsupial, avian, amphibian and fish) failed to identify many of the empirically defined functional noncoding elements. We derived an intuitive relationship between ancient and recent noncoding sequence conservation from whole genome comparative analysis, which explains some of these findings. Lastly, we determined that, in addition to strength of conservation, genomic location and/or density of surrounding conserved elements must also be considered in selecting candidate enhancers for testing at embryonic time points.

  19. Distal renal tubular acidosis

    Science.gov (United States)

    ... the body's immune system mistakenly attacks healthy tissue Wilson disease , an inherited disorder in which there is too much copper in the body's tissues Use of certain medicines, such as amphotericin B, lithium, and analgesics Symptoms Symptoms of distal renal tubular acidosis include any ...

  20. Distal finger replantation.

    Science.gov (United States)

    Scheker, Luis R; Becker, Giles W

    2011-03-01

    Reconstruction of the fingertip distal to the flexor tendon insertion by replantation remains controversial and technically challenging, but the anatomy of the fingertip has been well described and provides help in surgical planning. The open-book surgical technique is described with potential complications and is illustrated with clinical cases. Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  1. Distal biceps tendon rupture.

    Science.gov (United States)

    Savvidou, Olga D; Papagelopoulos, Panayiotis J; Mavrogenis, Andreas F; Partsinevelos, Antonios A; Karadimas, Evangelos J; Korres, Demetrios S

    2004-09-01

    The authors report a rupture of the distal tendon of biceps brachii in a 42-year-old athlete. Magnetic resonance imaging confirmed the injury. Early surgical repair was performed by reinsertion of the tendon on the radial tuberosity according to modified Boyd-Anderson technique. Indomethacin was administered prophylactically. No complications were noted. At the latest follow-up, the patient had full elbow range of motion and participated successfully in athletic activities and job.

  2. Three cis-Regulatory Motifs, AuxRE, MYCRS1 and MYCRS2, are Required for Modulating the Auxin- and Mycorrhiza-Responsive Expression of a Tomato GH3 Gene.

    Science.gov (United States)

    Chen, Xiao; Liao, Dehua; Yang, Xiaofeng; Ji, Minjie; Wang, Shuangshuang; Gu, Mian; Chen, Aiqun; Xu, Guohua

    2017-04-01

    Auxin is well known to be a key regulator that acts in almost all physiological processes during plant growth, and in interactions between plants and microbes. However, to date, the regulatory mechanisms underlying auxin-mediated plant-arbuscular mycorrhizal (AM) fungi symbiosis have not been well deciphered. Previously we identified a GH3 gene, SlGH3.4, strongly responsive to both auxin induction and mycorrhizal symbiosis. Here, we reported a refined dissection of the SlGH3.4 promoter activity using the β-glucuronidase (GUS) reporter. The SlGH3.4 promoter could drive GUS expression strongly in mycorrhizal roots of soybean and rice plants, and in IAA-treated soybean roots, but not in IAA-treated rice roots. A promoter deletion assay revealed three cis-acting motifs, i.e. the auxin-responsive element, AuxRE, and two newly identified motifs named MYCRS1 and MYCRS2, involved in the activation of auxin- and AM-mediated expression of SlGH3.4. Deletion of the AuxRE from the SlGH3.4 promoter caused almost complete abolition of GUS staining in response to external IAA induction. Seven repeats of AuxRE fused to the Cauliflower mosaic virus (CaMV) 35S minimal promoter could direct GUS expression in both IAA-treated and AM fungal-colonized roots of tobacco plants. Four repeats of MYCRS1 or MYCRS2 fused to the CaMV35S minimal promoter was sufficient to drive GUS expression in arbuscule-containing cells, but not in IAA-treated tobacco roots. In summary, our results offer new insights into the molecular mechanisms underlying the potential cross-talk between the auxin and the AM regulatory pathways in modulating the expression of AM-responsive GH3 genes in diverse mycorrhizal plants. © The Author 2017. Published by Oxford University Press on behalf of Japanese Society of Plant Physiologists. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  3. Distal Radius Hemiarthroplasty.

    Science.gov (United States)

    Adams, Brian D; Lawler, Ericka A; Kuhl, Taften L

    2016-08-01

    Due to a higher risk for implant loosening, particularly of the distal component, patients with physically demanding lifestyles are infrequently considered for total wrist arthroplasty (TWA). A distal radius hemiarthroplasty may obviate the need for the strict restrictions recommended for patients treated by TWA, thus providing another surgical option for active patients with severe wrist arthritis, especially those with articular degeneration of the lunate facet of the radius, capitate head, or combination of both, who are not typically candidates for traditional motion-preserving procedures. Eight fresh-frozen cadaver limbs (age range, 43-82 years) with no history of rheumatoid arthritis or upper extremity trauma were used. Radiodense markers were inserted in the radius and hand. Posteroanterior (PA) fluoroscopic images with the wrist in neutral, radial deviation, and ulnar deviation, and lateral images with the wrist in neutral, flexion, and extension were obtained for each specimen before implantation, after distal radius hemiarthroplasty, and after combined hemiarthroplasty and PRC. On the PA images, the capitate remained within 1.42 and 2.21 mm of its native radial-ulnar position following hemiarthroplasty and hemiarthroplasty with PRC, respectively. Lateral images showed the capitate remained within 1.06 mm of its native dorsal-volar position following hemiarthroplasty and within 4.69 mm following hemiarthroplasty with PRC. Following hemiarthroplasty, capitate alignment changed 2.33 and 2.59 mm compared with its native longitudinal alignment on PA and lateral films, respectively. These changes did not reach statistical significance. As expected, significant shortening in longitudinal alignment was seen on both PA and lateral films for hemiarthroplasty with PRC. A distal radius implant hemiarthroplasty with or without a PRC provides good static alignment of the wrist in a cadaver model and thus supports the concept as potential treatment alternatives

  4. Computational methods to dissect cis-regulatory transcriptional ...

    Indian Academy of Sciences (India)

    www.ias.ac.in/article/fulltext/jbsc/032/07/1325-1330 ... The integration of computer science with biology has expedited molecular modelling and processing of large-scale data inputs such as microarrays, analysis of genomes, transcriptomes ...

  5. Computational methods to dissect cis-regulatory transcriptional ...

    Indian Academy of Sciences (India)

    SEARCHU

    SAGE) has allowed rapid and ... profiling and functional characterization are required for gene discovery and pathway elucidation ..... Dermitzakis E T, Kirkness E, Schwarz S, Birney E, Reymond A and Antonarakis S E 2004 Comparison of ...

  6. Patterns of cis regulatory variation in diverse human populations.

    Directory of Open Access Journals (Sweden)

    Barbara E Stranger

    Full Text Available The genetic basis of gene expression variation has long been studied with the aim to understand the landscape of regulatory variants, but also more recently to assist in the interpretation and elucidation of disease signals. To date, many studies have looked in specific tissues and population-based samples, but there has been limited assessment of the degree of inter-population variability in regulatory variation. We analyzed genome-wide gene expression in lymphoblastoid cell lines from a total of 726 individuals from 8 global populations from the HapMap3 project and correlated gene expression levels with HapMap3 SNPs located in cis to the genes. We describe the influence of ancestry on gene expression levels within and between these diverse human populations and uncover a non-negligible impact on global patterns of gene expression. We further dissect the specific functional pathways differentiated between populations. We also identify 5,691 expression quantitative trait loci (eQTLs after controlling for both non-genetic factors and population admixture and observe that half of the cis-eQTLs are replicated in one or more of the populations. We highlight patterns of eQTL-sharing between populations, which are partially determined by population genetic relatedness, and discover significant sharing of eQTL effects between Asians, European-admixed, and African subpopulations. Specifically, we observe that both the effect size and the direction of effect for eQTLs are highly conserved across populations. We observe an increasing proximity of eQTLs toward the transcription start site as sharing of eQTLs among populations increases, highlighting that variants close to TSS have stronger effects and therefore are more likely to be detected across a wider panel of populations. Together these results offer a unique picture and resource of the degree of differentiation among human populations in functional regulatory variation and provide an estimate for the transferability of complex trait variants across populations.

  7. Computational methods to dissect cis-regulatory transcriptional ...

    Indian Academy of Sciences (India)

    The formation of diverse cell types from an invariant set of genes is governed by biochemical and molecular processes that regulate gene activity. A complete understanding of the regulatory mechanisms of gene expression is the major function of genomics. Computational genomics is a rapidly emerging area for ...

  8. Distal corporoplasty for distal cylinders extrusion after penile prosthesis implantation.

    Science.gov (United States)

    Carrino, Maurizio; Chiancone, Francesco; Battaglia, Gaetano; Pucci, Luigi; Fedelini, Paolo

    2017-02-03

    Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Several methods have been proposed for repairing a distal penile erosion. We present our preliminary experience in "Distal corporoplasty" technique. We enrolled 18 consecutive patients whose underwent a distal corporoplasty with simultaneous reimplantation of an "AMS 700 inflatable penile prosthesis (LGX)" from January 2013 to November 2015 at our hospital. All procedures were performed by a single surgical team. Intraoperative and postoperative complications have been classified and reported according to Satava6 and Clavien-Dindo (CD) system.7 Mean values with standard deviations (±SD) were computed and reported for all items. Mean age of the patients was 53.61 (±11.90) years. Mean body max index (BMI) was 24.22 (±2.51). Mean operative time was 85.2 (±13.1) minutes. Blood losses were minimal. No intraoperative complications are reported according to Satava classification. Four out of 18 patients (22.22%) experienced postoperative complications according to CD system. All patients had sexual intercourse for the first time postsurgery after a mean of 59.11 ± 2.08 days. Mean follow-up was 22.11 (±9.95). Distal extrusion of cylinders is a potential complication of the penile prosthesis implantation. Distal corporoplasty was first described by Mulcahy. He reported a series of 14 patients with a follow-up of about 2 years with optimal functional outcomes. Moreover, distal corporoplasty resulted in shorter operative time, better function, less pain, and fewer recurrences than Gortex windsock repair.10 In our experience, distal corporoplasty is a simple and safe procedure in the treatment of distal cylinders extrusion when the prosthetic material is not exposed to the exterior.

  9. Distal esophageal spasm.

    Science.gov (United States)

    Roman, Sabine; Kahrilas, Peter J

    2015-07-01

    Distal esophageal spasm (DES) is a rare esophageal motility disorder associated with dysphagia and chest pain. In 2011, the diagnosis of DES was refined based on the occurrence of premature (rather than rapid) contractions by high-resolution manometry. New therapeutic options have also been recently proposed. Thus, a review on DES incorporating publications since 2012 is timely because of these revisions in definition and management. DES remains a heterogeneous clinical disorder. Its pathophysiology is still debated and DES might be related to achalasia. Alternatively, it might be secondary to medications, especially opiates. Endoscopic ultrasound might be informative diagnostically by demonstrating muscularis propria hypertrophy and thickening. Botulinum toxin injection in the esophageal body has been shown superior to placebo to relieve symptoms associated with DES. Finally, per oral endoscopic myotomy is a promising therapeutic approach, but may be less effective in DES than in achalasia. The diagnosis of DES should lead to a systematic search for medication that might promote the occurrence of esophageal dysmotility. Endoscopic treatment of DES (botulinum toxin injection or per oral endoscopic myotomy) should be further evaluated in controlled studies using current diagnostic criteria by high-resolution manometry.

  10. Reverse Distal Transverse Palmar Arch in Distal Digital Replantation.

    Science.gov (United States)

    Wei, Ching-Yueh; Orozco, Oscar; Vinagre, Gustavo; Shafarenko, Mark

    2017-11-01

    Refinements in microsurgery have made distal finger replantation an established technique with high success rates and good functional and aesthetic outcomes. However, it still represents a technically demanding procedure due to the small vessel caliber and frequent lack of vessel length, requiring the use of interpositional venous grafts in some instances. We describe a new technique for anastomosis in fingertip replantation, whereby the need for venous grafts is eliminated. Applying the reverse distal transverse palmar arch technique, 11 cases of distal digital replantation were performed between January 2011 and July 2016. The described procedure was used for arterial anastomosis in 10 cases and arteriovenous shunting for venous drainage in 1 case. A retrospective case review was conducted. The technical description and clinical outcome evaluations are presented. Ten of the 11 replanted digits survived, corresponding to an overall success rate of 91%. One replant failed due to venous insufficiency. Blood transfusions were not required for any of the patients. Follow-up (range, 1.5-5 months) revealed near-normal range of motion and good aesthetic results. All of the replanted digits developed protective sensation. The average length of hospital admission was 5 days. All patients were satisfied with the results and were able to return to their previous work. The use of the reverse distal transverse palmar arch is a novel and reliable technique in distal digital replantation when an increase in vessel length is required, allowing for a tension-free arterial repair without the need for vein grafts.

  11. Phylogeny based discovery of regulatory elements

    Directory of Open Access Journals (Sweden)

    Cohen Barak A

    2006-05-01

    Full Text Available Abstract Background Algorithms that locate evolutionarily conserved sequences have become powerful tools for finding functional DNA elements, including transcription factor binding sites; however, most methods do not take advantage of an explicit model for the constrained evolution of functional DNA sequences. Results We developed a probabilistic framework that combines an HKY85 model, which assigns probabilities to different base substitutions between species, and weight matrix models of transcription factor binding sites, which describe the probabilities of observing particular nucleotides at specific positions in the binding site. The method incorporates the phylogenies of the species under consideration and takes into account the position specific variation of transcription factor binding sites. Using our framework we assessed the suitability of alignments of genomic sequences from commonly used species as substrates for comparative genomic approaches to regulatory motif finding. We then applied this technique to Saccharomyces cerevisiae and related species by examining all possible six base pair DNA sequences (hexamers and identifying sequences that are conserved in a significant number of promoters. By combining similar conserved hexamers we reconstructed known cis-regulatory motifs and made predictions of previously unidentified motifs. We tested one prediction experimentally, finding it to be a regulatory element involved in the transcriptional response to glucose. Conclusion The experimental validation of a regulatory element prediction missed by other large-scale motif finding studies demonstrates that our approach is a useful addition to the current suite of tools for finding regulatory motifs.

  12. Traumatic Distal Ulnar Artery Thrombosis

    Directory of Open Access Journals (Sweden)

    Ahmet A. Karaarslan

    2014-01-01

    Full Text Available This paper is about a posttraumatic distal ulnar artery thrombosis case that has occurred after a single blunt trauma. The ulnar artery thrombosis because of chronic trauma is a frequent condition (hypothenar hammer syndrome but an ulnar artery thrombosis because of a single direct blunt trauma is rare. Our patient who has been affected by a single blunt trauma to his hand and developed ulnar artery thrombosis has been treated by resection of the thrombosed ulnar artery segment. This report shows that a single blunt trauma can cause distal ulnar artery thrombosis in the hand and it can be treated merely by thrombosed segment resection in suitable cases.

  13. Identifier (ID) elements are not preferentially located to brain-specific genes: high ID element representation in other tissue-specific- and housekeeping genes of the rat.

    Science.gov (United States)

    Goldman, Andrés; Capoano, Carlos A; González-López, Evangelina; Geisinger, Adriana

    2014-01-01

    BC1 is a short non-coding RNA from rodents, which is transcribed by RNA pol III. Its RNA is highly abundant in the brain, where it exerts a post-transcriptional regulatory role in dendrites. Upon transcription, retroposition and insertion, BC1 gives rise to a subclass of short interspersed repetitive sequences (SINEs) named identifier (ID) elements. IDs can become integrated inside non-coding regions of RNA pol II transcription units, and - although challenged by a couple of reports - their preferential location to brain-specific genes has been long proposed. Furthermore, an additional, cis-regulatory role in the control of brain-specific pol II-directed transcripts has been suggested for these sequences. In this work we used Northern blot and in silico analyses to examine IDs' location among pol II transcription units in different tissues, and in housekeeping genes. ID sequences appeared distributed in a similar fashion within tissue-specific hnRNA populations of the brain, testis and liver, and within housekeeping primary transcripts as well. Moreover, when the lengths of the unprocessed transcripts were considered, ID representation was higher in housekeeping ones. On the other hand, ID elements appeared similarly distributed among the different gene regions, with the obvious exclusion of those sequences where strict constraints for proper gene expression exist. Altogether, the widespread distribution of ID elements in all the analyzed genes - including housekeeping - and in all gene regions, suggests a random location, raising questions about the specific cis-regulatory role of those sequences. © 2013 Elsevier B.V. All rights reserved.

  14. [Carpal malalignment following distal radius fracture].

    Science.gov (United States)

    Coulet, B; Gauci, M-O; Lazerges, C; Chammas, M

    2016-12-01

    Adaptive carpal malalignment is the consequence of malunion of the distal radius. Since the radial metaphysis and capitate have to be aligned, any disorientation of the radial epiphysis will force the proximal carpal row to adapt, as it is the only mobile element. There are two types of adaptation depending where the compensative occurs: (1) midcarpal - leading to flexion between the lunate and capitate, with the lunate maintaining a normal relationship with the radial epiphysis axis; (2) radiocarpal - combining flexion and dorsal displacement of the lunate relative to the axis of the radial epiphysis, with the midcarpal joint remaining aligned. Clinically, adaptive carpal malalignment is not the first reason for consultation in cases of distal radius malunion. It occurs in cases of moderate deformity with preserved pronation-supination in a young patient who has good mobility. It generates dorsal pain that may be associated with a snapping sensation. The diagnosis requires strict lateral X-ray views. Over time, the wrist becomes stiff but analgesic and is often well tolerated functionally. This type of deformity has not been shown to lead to osteoarthritis. Osteotomy to correct the malunion is the only way to treat adaptive carpal malalignment in active young patients who have a mobile but painful wrist. Copyright © 2016 SFCM. Published by Elsevier Masson SAS. All rights reserved.

  15. RESULT OF PRE-CONTOURED DISTAL RADIUS INDIAN LOCKING PLATES IN DISTAL RADIUS FRACTURE

    OpenAIRE

    Shaleen; Baljit; Aditya; Parminder; Simarpreet S

    2014-01-01

    BACKGROUND: Fractures of the distal radius are common, open reduction and internal fixation using an interlocking plate system has gained popularity for the treatment of dorsally displaced distal radius fractures. The aim of the study was to assess how adequately distal radial fracture reduction was reproduced and maintained with the pre-contoured distal radius Indian locking plates and to evaluate the functional and radiological results of treating unstable distal radius ...

  16. Spleen-preserving distal pancreatectomy in trauma.

    Science.gov (United States)

    Schellenberg, Morgan; Inaba, Kenji; Cheng, Vincent; Bardes, James M; Lam, Lydia; Benjamin, Elizabeth; Matsushima, Kazuhide; Demetriades, Demetrios

    2018-01-01

    Traumatic injuries to the distal pancreas are infrequent. Universally accepted recommendations about the need for routine splenectomy with distal pancreatectomy do not exist. The aims of this study were to compare outcomes after distal pancreatectomy and splenectomy versus spleen-preserving distal pancreatectomy, and to define the appropriate patient population for splenic preservation. All patients who underwent distal pancreatectomy (January 1, 2007, to December 31, 2014) were identified from the National Trauma Data Bank. Patients with concomitant splenic injury and those who underwent partial splenectomy were excluded. Demographics, clinical data, procedures, and outcomes were collected. Study groups were defined by surgical procedure: distal pancreatectomy and splenectomy versus spleen-preserving distal pancreatectomy. Baseline characteristics between groups were compared with univariate analysis. Multivariate analysis was performed with logistic and linear regression to examine differences in outcomes. Over the 8-year study period, 2,223 patients underwent distal pancreatectomy. After excluding 1,381 patients with concomitant splenic injury (62%) and 8 (pancreatectomy and splenectomy, those who underwent spleen-preserving distal pancreatectomy were younger (p pancreatectomy (p = 0.017). Complications, mortality, and intensive care unit LOS were not significantly different. In young patients after blunt trauma who are not severely injured, a spleen-preserving distal pancreatectomy should be considered to allow for conservation of splenic function and a shorter hospital LOS. In all other patients, the surgeon should not hesitate to remove the spleen with the distal pancreas. Therapy, level IV.

  17. Genetics Home Reference: distal hereditary motor neuropathy, type V

    Science.gov (United States)

    ... Distal hereditary motor neuropathy, type V Distal hereditary motor neuropathy, type V Printable PDF Open All Close All Enable ... link) PubMed OMIM (2 links) NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB Sources ...

  18. A 20 bp cis-acting element is both necessary and sufficient to mediate elicitor response of a maize PRms gene.

    Science.gov (United States)

    Raventós, D; Jensen, A B; Rask, M B; Casacuberta, J M; Mundy, J; San Segundo, B

    1995-01-01

    Transient gene expression assays in barley aleurone protoplasts were used to identify a cis-regulatory element involved in the elicitor-responsive expression of the maize PRms gene. Analysis of transcriptional fusions between PRms 5' upstream sequences and a chloramphenicol acetyltransferase reporter gene, as well as chimeric promoters containing PRms promoter fragments or repeated oligonucleotides fused to a minimal promoter, delineated a 20 bp sequence which functioned as an elicitor-response element (ERE). This sequence contains a motif (-246 AATTGACC) similar to sequences found in promoters of other pathogen-responsive genes. The analysis also indicated that an enhancing sequence(s) between -397 and -296 is required for full PRms activation by elicitors. The protein kinase inhibitor staurosporine was found to completely block the transcriptional activation induced by elicitors. These data indicate that protein phosphorylation is involved in the signal transduction pathway leading to PRms expression.

  19. Contemporary Management of Primary Distal Urethral Cancer

    NARCIS (Netherlands)

    Traboulsi, S.L.; Witjes, J.A.; Kassouf, W.

    2016-01-01

    Primary urethral cancer is one of the rare urologic tumors. Distal urethral tumors are usually less advanced at diagnosis compared with proximal tumors and have a good prognosis if treated appropriately. Low-stage distal tumors can be managed successfully with a surgical approach in men or radiation

  20. Pisiform malalignment associated with distal radius fractures.

    Science.gov (United States)

    Tajima, Takafumi; Zenke, Yukichi; Yamanaka, Yoshiaki; Menuki, Kunitaka; Sakai, Akinori

    2018-03-01

    The association of scaphoid or other carpal bone fractures with distal radius fractures is frequently reported, whereas few studies have described pisiform malalignment associated with distal radius fractures. The purpose of this study was to investigate the frequency and characteristics of pisiform malalignment associated with distal radius fractures. We performed a retrospective study by reviewing the data of 152 consecutive patients with a mean age of 63 years who were treated surgically for distal radius fractures during a five-year period. We evaluated the pisotriquetral joint via preoperative sagittal computed tomography (CT) and assessed pisiform malalignment. Pisiform malalignment was defined as follows: (1) wide type, joint space ≥4.0 mm; (2) non-parallel type, loss of parallelism of the joint surface of ≥20°; or (3) overriding type, proximal or distal overriding of the pisotriquetral joint ≥2.0 mm. We investigated the relationship between pisiform malalignment and the patterns of distal radius fractures. Pisiform malalignment was assessed using postoperative CT to determine whether it had been reduced. Pisiform malalignment was observed in 48 cases involving 44 patients with a mean age of 58 (17-81) years. The patients included 16, 17, and 15 cases of the wide type, non-parallel type, and overriding type, respectively. Distal radius fractures with dorsal displacement exhibited pisiform malalignment significantly more frequently than those with volar displacement. No significant difference was noted between intra- and extra-articular fractures or between patients with and without distal ulnar fractures. Among the 22 pisiform malalignment cases assessed via postoperative CT, 15 cases were reduced, and 7 cases remained malaligned. The non-parallel type exhibited the lowest reduction rate among the 3 types. Among distal radius fractures, 29% were complicated by pisiform malalignment. Distal radius fractures with dorsal displacement exhibited a

  1. Distal movement of maxillary canines and premolars with sectional mechanics following Distal Jet application to molars.

    Science.gov (United States)

    Bolla, E; Doldo, T; Giorgetti, R

    2004-01-01

    to assess the effectiveness of Distal Jet without simultaneous fixed appliance treatment. twenty subjects with Class II malocclusion who received the Distal Jet appliance to move maxillary molars distally. Subsequently, the canine and premolar distal movements were achieved by the use of.017 x.025 Ni-Ti sectional wires and memory power chain. revealed that Distal Jet is more effective with less anchorage loss when this appliance is used independent of multibracket appliances. this study showed that Distal Jet is an effective and predictable appliance. The distal movements of upper premolars, canines and incisors with sectional wires fabricated from.017 x.025 Ni-Ti were biomechanically very effective, simple in clinical application, and did not require any patient compliance.

  2. Load transfer at the distal ulna following simulated distal radius fracture malalignment.

    Science.gov (United States)

    Ferreira, Louis M; Greeley, Gillian S; Johnson, James A; King, Graham J W

    2015-02-01

    To measure the effects of distal radius malalignment on loading at the distal ulna. Using an adjustable mechanism to simulate angulated and translated malalignments, clinically relevant distal radius deformities were simulated in a cadaveric model. A custom-built load cell was inserted just proximal to the native ulna head to measure the resultant force and torque in the distal ulna. Loads were measured before and after transecting the triangular fibrocartilage complex (TFCC). There was an increase in distal ulna load and torque with increasing dorsal translation and angulation. Combined conditions of angulation and translation increased force and torque in the distal ulna to a greater extent than with either condition in isolation. Transecting the TFCC resulted in a reduction in distal ulna load and torque. A progressive increase in load at the distal ulna was observed with increasing severity of malalignment, which may be an important contributor to residual ulnar wrist pain and dysfunction. However, no clear-cut threshold of malalignment of a dorsally angulated and translated distal radius fracture was identified. These observations suggest that radius deformities cause articular incongruity, which increases TFCC tension and distal radioulnar joint load. Cutting of the TFCC decreased distal ulna loading, likely by releasing the articular constraining effect of the TFCC on the distal radioulnar joint, allowing the radius to rotate more freely with respect to the ulna. Anatomical reduction of a distal radius fracture minimizes the forces in the distal ulna and may reduce residual ulnar wrist pain and dysfunction. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  3. Genetics Home Reference: distal 18q deletion syndrome

    Science.gov (United States)

    ... Health Conditions Distal 18q deletion syndrome Distal 18q deletion syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Distal 18q deletion syndrome is a chromosomal condition that occurs when ...

  4. Villous adenoma of the distal appendix.

    Science.gov (United States)

    Taylor, J V; Thomas, M G; Kelly, S; Sutton, R

    1997-04-01

    Villous adenoma confined to the distal appendix has not been previously reported in conjunction with acute apendicitis. The presence of an adenoma indicates a need for further investigation due to an association with neoplasia elsewhere.

  5. Genetics Home Reference: distal arthrogryposis type 1

    Science.gov (United States)

    ... 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. ... distal arthrogryposis type 1 . However, researchers speculate that contractures may be related to problems with muscle contraction ...

  6. Conceptualizing distal drivers in land use competition

    DEFF Research Database (Denmark)

    Niewhöner, Jörg; Nielsen, Jonas Ø; Gasparri, Gasparri

    2016-01-01

    This introductory chapter explores the notion of ‘distal drivers’ in land use competition. Research has moved beyond proximate causes of land cover and land use change to focus on the underlying drivers of these dynamics. We discuss the framework of telecoupling within human–environment systems...... as a first step to come to terms with the increasingly distal nature of driving forces behind land use practices. We then expand the notion of distal as mainly a measure of Euclidian space to include temporal, social, and institutional dimensions. This understanding of distal widens our analytical scope...... for the analysis of land use competition as a distributed process to consider the role of knowledge and power, technology, and different temporalities within a relational or systemic analysis of practices of land use competition. We conclude by pointing toward the historical and social contingency of land use...

  7. A new promoter element associated with daily time keeping in Drosophila.

    Science.gov (United States)

    Sharp, Brandi; Paquet, Eric; Naef, Felix; Bafna, Akanksha; Wijnen, Herman

    2017-06-20

    Circadian clocks are autonomous daily timekeeping mechanisms that allow organisms to adapt to environmental rhythms as well as temporally organize biological functions. Clock-controlled timekeeping involves extensive regulation of rhythmic gene expression. To date, relatively few clock-associated promoter elements have been identified and characterized. In an unbiased search of core clock gene promoters from 12 species of Drosophila, we discovered a 29-bp consensus sequence that we designated as the Clock-Associated Transcriptional Activation Cassette or 'CATAC'. To experimentally address the spatiotemporal expression information associated with this element, we generated constructs with four separate native CATAC elements upstream of a basal promoter driving expression of either the yeast Gal4 or firefly luciferase reporter genes. Reporter assays showed that presence of wild-type, but not mutated CATAC elements, imparted increased expression levels as well as rhythmic regulation. Part of the CATAC consensus sequence resembles the E-box binding site for the core circadian transcription factor CLOCK/CYCLE (CLK/CYC), and CATAC-mediated expression rhythms are lost in the presence of null mutations in either cyc or the gene encoding the CLK/CYC inhibitor, period (per). Nevertheless, our results indicate that CATAC's enhancer function persists in the absence of CLK/CYC. Thus, CATAC represents a novel cis-regulatory element encoding clock-controlled regulation. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

  8. Adaptive evolution of conserved noncoding elements in mammals.

    Directory of Open Access Journals (Sweden)

    Su Yeon Kim

    2007-09-01

    Full Text Available Conserved noncoding elements (CNCs are an abundant feature of vertebrate genomes. Some CNCs have been shown to act as cis-regulatory modules, but the function of most CNCs remains unclear. To study the evolution of CNCs, we have developed a statistical method called the "shared rates test" to identify CNCs that show significant variation in substitution rates across branches of a phylogenetic tree. We report an application of this method to alignments of 98,910 CNCs from the human, chimpanzee, dog, mouse, and rat genomes. We find that approximately 68% of CNCs evolve according to a null model where, for each CNC, a single parameter models the level of constraint acting throughout the phylogeny linking these five species. The remaining approximately 32% of CNCs show departures from the basic model including speed-ups and slow-downs on particular branches and occasionally multiple rate changes on different branches. We find that a subset of the significant CNCs have evolved significantly faster than the local neutral rate on a particular branch, providing strong evidence for adaptive evolution in these CNCs. The distribution of these signals on the phylogeny suggests that adaptive evolution of CNCs occurs in occasional short bursts of evolution. Our analyses suggest a large set of promising targets for future functional studies of adaptation.

  9. Distal biceps rupture: the coil sign.

    Science.gov (United States)

    Austin, Luke; Pepe, Matt; VanBeek, Corinne; Tjoumakaris, Fotios

    2014-06-01

    Delayed repair of the distal biceps brachii tendon can lead to the formation of scar tissue and coiling of the tendon. Dissection of the scar tissue and unraveling of the tendon may allow for anatomic repair to the radial tuberosity. A 50-year-old man had a distal biceps brachii tendon tear with an intact lacertus fibrosis. Surgery was performed 22 days after injury. On inspection, the distal biceps tendon was coiled, encased in scar tissue, and unable to be reduced to the radial tuberosity. Dissection of the scar tissue and unraveling of the tendon provided additional length, allowing anatomic repair. Postoperatively, the patient regained full range of motion and strength and returned to work without restrictions. After a distal biceps brachii tear in which the lacertus fibrosis remains intact, the coiled tendon may become enveloped in a sheath of scar tissue. Dissection of the "pseudosheath" unveils the native tendon and allows reduction to the radial tuberosity. Cadaveric analysis shows that the pseudosheath may conceal 6 cm of coiled tendon. When the lacertus fibrosis remains intact after distal biceps tendon rupture, the tethered tendon stump may coil, become encased in scar tissue, and resemble the native tendon. Failure to identify the native tendon could result in the loss of 6 cm of tendon. Copyright 2014, SLACK Incorporated.

  10. Potassium secretion in mammalian distal colon

    DEFF Research Database (Denmark)

    Sørensen, Mads Vaarby

    2009-01-01

    . This research project is the summary of 3 original papers addressing the functional role of different regulating factors on ion transport in mouse distal colon. The first paper addresses the effect of luminal nucleotides on electrogenic Na+ absorption. The distal colon, like the distal nephron is an aldosterone......2 subunits in mice treated on an aldosterone increasing diet (high K+). Immunolabelling showed BK channel localisation in the luminal membrane which also was up-regulated in animals treated on a high K+ diet. Taken together these results firmly prove that aldosterone-stimulated K+ secretion......-/- mouse, we could functionally isolate the cAMP-activated K+ conductance as the BK channel. In addition we found the cAMP-activated K+ conductance to be further up-regulated by aldosterone. Taken together, these results show cAMP-activated K+ secretion occurs via a regulated specific splice variant...

  11. Osteochondritis of the Distal Tibial Epiphysis

    Directory of Open Access Journals (Sweden)

    Firass EL Hajj

    2012-01-01

    Full Text Available Osteochondritis of the distal tibial epiphysis is a very rare entity. 9 cases have been described in 7 articles and 8 other cases have been mentioned in textbooks. This paper describes the 10th case of osteochondritis of the distal tibial epiphysis and summarizes the clinical and radiological presentations of the 9 other cases. The etiology of this entity is well debated in the literature. We believe that it results from a vascular abnormality in the distal tibial epiphysis associated with a mechanical stress (trauma, excessive overload, etc.. Since it is a self-limited disease, the prognosis is good and the younger the patient is the better the prognosis will be. In general, this entity responds well to conservative treatment.

  12. Diagnostic modalities for distal radioulnar joint.

    Science.gov (United States)

    Jens, S; Luijkx, T; Smithuis, F F; Maas, M

    2017-05-01

    The first imaging modality in patients suspected of distal radioulnar joint pathology should be conventional radiography to exclude or diagnose wrist pathology including osteoarthritis, rheumatoid arthritis, calcium pyrophosphate deposition disease, (healed) fractures, or impaction syndromes. When conventional radiography is inconclusive, high resolution 3 Tesla magnetic resonance imaging is advised. We provide a broad overview of the literature regarding the use of intra-articular contrast both with computed tomography (CTA) or magnetic resonance imaging (MRA). Conventional arthrography and unenhanced computed tomography are not indicated. This article discusses the most useful imaging techniques in terms of clinical indications, patient positioning, technical imaging requirements, and diagnostic performance in patients with suspected distal radioulnar joint pathology. Furthermore, the most prevalent pathologies are discussed, with the focus on imaging characteristics in both stable and unstable distal radioulnar joints.

  13. Distal splenorenal shunt with partial spleen resection

    Directory of Open Access Journals (Sweden)

    Gajin Predrag

    2007-01-01

    Full Text Available Introduction: Hypersplenism is a common complication of portal hypertension. Cytopenia in hypersplenism is predominantly caused by splenomegaly. Distal splenorenal shunt (Warren with partial spleen resection is an original surgical technique that regulates cytopenia by reduction of the enlarged spleen. Objective. The aim of our study was to present the advantages of distal splenorenal shunt (Warren with partial spleen resection comparing morbidity and mortality in a group of patients treated by distal splenorenal shunt with partial spleen resection with a group of patients treated only by a distal splenorenal shunt. Method. From 1995 to 2003, 41 patients with portal hypertension were surgically treated due to hypersplenism and oesophageal varices. The first group consisted of 20 patients (11 male, mean age 42.3 years who were treated by distal splenorenal shunt with partial spleen resection. The second group consisted of 21 patients (13 male, mean age 49.4 years that were treated by distal splenorenal shunt only. All patients underwent endoscopy and assessment of oesophageal varices. The size of the spleen was evaluated by ultrasound, CT or by scintigraphy. Angiography was performed in all patients. The platelet and white blood cell count and haemoglobin level were registered. Postoperatively, we noted blood transfusion, complications and total hospital stay. Follow-up period was 12 months, with first checkup after one month. Results In the first group, only one patient had splenomegaly postoperatively (5%, while in the second group there were 13 patients with splenomegaly (68%. Before surgery, the mean platelet count in the first group was 51.6±18.3x109/l, to 118.6±25.4x109/l postoperatively. The mean platelet count in the second group was 67.6±22.8x109/l, to 87.8±32.1x109/l postoperatively. Concerning postoperative splenomegaly, statistically significant difference was noted between the first and the second group (p<0.05. Comparing the

  14. Management of Malunions of the Distal Radius

    OpenAIRE

    Yaniel Truffin Rodriguez; Osmany Pérez Martínez; Rafael Esmandy Gómez Arregoitía; Indira L. Gómez Gil

    2015-01-01

    Fractures of the distal radius often present with a group of major complications. Of these, malunion is one of the most disabling. Its management through salvage procedures is essential for its correction. The case of a 60-year-old healthy woman of urban origin treated at the Dr. Gustavo Aldereguía Lima University General Hospital in Cienfuegos because of a malunion of the distal end of the left radius as a result of a previous Colles' fracture is presented. The patient complained of severe p...

  15. Contemporary Management of Primary Distal Urethral Cancer.

    Science.gov (United States)

    Traboulsi, Samer L; Witjes, Johannes Alfred; Kassouf, Wassim

    2016-11-01

    Primary urethral cancer is one of the rare urologic tumors. Distal urethral tumors are usually less advanced at diagnosis compared with proximal tumors and have a good prognosis if treated appropriately. Low-stage distal tumors can be managed successfully with a surgical approach in men or radiation therapy in women. There are no clear-cut indications for the choice of the most appropriate treatment modality. Organ-preserving modalities have shown effective and should be used whenever they do not compromise the oncological safety to decrease the physical and psychological trauma of dismemberment or loss of sexual/urinary function. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Comparison of Maxillary Molar Distalization with an Implant-Supported Distal Jet and a Traditional Tooth-Supported Distal Jet Appliance

    Directory of Open Access Journals (Sweden)

    Mauro Cozzani

    2014-01-01

    Full Text Available Aim. To investigate and compare the efficiency of two appliances for molar distalization: the bone-anchored distal screw (DS and the traditional tooth-supported distal jet (DJ for molar distalization and anchorage loss. Methods. Tests (18 subjects were treated with a DS and controls (18 subjects were treated with a DJ. Lateral cephalograms were obtained before and at the end of molar distalization and were analysed. Shapiro Wilk test, unpaired t-test, and Wilcoxon rank-sum test were applied according to values distribution. The α level was fixed at 0.05. Results. Maxillary first molars were successfully distalized into a Class I relationship in all patients. The mean molar distalization and treatment time were similar in both groups. The DS group exhibited a spontaneous distalization (2.1±0.9 mm of the first premolar with control of anchorage loss, distal tipping, extrusion, and skeletal changes. Conclusions. The DS is an adequate compliance-free distalizing appliance that can be used safely for the correction of Class II malocclusions. In comparison to the traditional DJ, the DS enables not only a good rate of molar distalization, but also a spontaneous distalization of the first premolars.

  17. Fracture of the Distal Ulna Metaphysis in the Setting of Distal Radius Fractures.

    Science.gov (United States)

    Paksima, Nader; Khurana, Sonya; Soojian, Michael; Patel, Vipul; Egol, Kenneth

    2017-04-01

    Fracture of the metaphyseal region of the distal ulna is an uncommon injury that has been reported to occur concomitantly with distal radius fracture. We aimed to report the incidence and types of distal ulnar head and neck fractures associated with distal radius fractures and compare outcomes in operatively versus non-operatively treated patients. Over a 5-year period a distal radius fracture registry was maintained at our institution. Eleven of 512 consecutive patients had metaphyseal distal ulna fractures in association with distal radius fractures and at least 1-year follow-up. Baseline radiographs and functional data were obtained, and patients were followed at 1-week, 2-week, 3-week, 6-week, 3-month, 6-month, 1-year, and 2-year intervals. Patients were split into two treatment groups: Group 1 consisted of five non-operatively treated patients, and Group 2 consisted of six operatively treated patients. Four separate fracture patterns were observed: simple transverse or oblique fracture of the ulnar neck just proximal to the ulnar head, fracture of the neck region with concomitant fracture of the tip of the ulnar styloid, simple fracture of the ulnar head, and comminuted fracture of the ulnar head. There were no statistical differences between the two groups with regard to flexion, extension, supination, pronation, and functional outcomes. Ulnar fracture patterns observed did not easily fall into previously described categories, and we have proposed a new classification system. Simple fractures of the ulnar neck or head often do not require operative fixation.

  18. Outcome following distally locked volar plating for distal radius fractures with metadiaphyseal involvement.

    Science.gov (United States)

    Matullo, Kristofer S; Dennison, David G

    2015-06-01

    The surgical treatment of metadiaphyseal distal radius fractures may be difficult due to the associated articular or periarticular extension that limits standard fixation techniques. Longer distal radius volar locking plates allow stable fixation of the distal fragments while providing standard plate fixation in the proximal radius. We hypothesize that this plating technique allows adequate fixation to both the distal radius and metadiaphyseal fragments. The purpose of the study is to describe the outcomes, radiographic parameters, secondary surgeries, and complication rate with this device. A retrospective chart review was conducted on adult patients with a distal radius fracture and metadiaphyseal involvement treated with a volar, distally locked plate. All patients were followed up for radiographic union, with a mean time of 219 days (range 38-575). Fracture patterns, outcomes of range of motion, grip strength, and complications, as well as injury, post open reduction and internal fixation (ORIF), and finally, healed radiographic parameters were recorded. Twenty patients with 21 fractures were included. At union, mean radiographic parameters were the following: volar tilt of 8°, radial inclination of 27°, radial height of 14 mm, and ulnar variance of -1 mm. The mean final range of motion was 52° flexion, 50° extension, 68° pronation, and 66° supination. Complications included one infection and one plate removal. Four patients developed a nonunion requiring secondary procedures. There were no incidents of hardware failure or adhesions requiring tenolysis. Distally locked long volar plating for metadiaphyseal distal radius fractures is a safe and effective treatment option for these complex fracture patterns allowing anatomic restoration of the radial shaft and distal radius.

  19. Ancient transposable elements transformed the uterine regulatory landscape and transcriptome during the evolution of mammalian pregnancy.

    Science.gov (United States)

    Lynch, Vincent J; Nnamani, Mauris C; Kapusta, Aurélie; Brayer, Kathryn; Plaza, Silvia L; Mazur, Erik C; Emera, Deena; Sheikh, Shehzad Z; Grützner, Frank; Bauersachs, Stefan; Graf, Alexander; Young, Steven L; Lieb, Jason D; DeMayo, Francesco J; Feschotte, Cédric; Wagner, Günter P

    2015-02-03

    A major challenge in biology is determining how evolutionarily novel characters originate; however, mechanistic explanations for the origin of new characters are almost completely unknown. The evolution of pregnancy is an excellent system in which to study the origin of novelties because mammals preserve stages in the transition from egg laying to live birth. To determine the molecular bases of this transition, we characterized the pregnant/gravid uterine transcriptome from tetrapods to trace the evolutionary history of uterine gene expression. We show that thousands of genes evolved endometrial expression during the origins of mammalian pregnancy, including genes that mediate maternal-fetal communication and immunotolerance. Furthermore, thousands of cis-regulatory elements that mediate decidualization and cell-type identity in decidualized stromal cells are derived from ancient mammalian transposable elements (TEs). Our results indicate that one of the defining mammalian novelties evolved from DNA sequences derived from ancient mammalian TEs co-opted into hormone-responsive regulatory elements distributed throughout the genome. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  20. Genomic context analysis reveals dense interaction network between vertebrate ultraconserved non-coding elements.

    Science.gov (United States)

    Dimitrieva, Slavica; Bucher, Philipp

    2012-09-15

    Genomic context analysis, also known as phylogenetic profiling, is widely used to infer functional interactions between proteins but rarely applied to non-coding cis-regulatory DNA elements. We were wondering whether this approach could provide insights about utlraconserved non-coding elements (UCNEs). These elements are organized as large clusters, so-called gene regulatory blocks (GRBs) around key developmental genes. Their molecular functions and the reasons for their high degree of conservation remain enigmatic. In a special setting of genomic context analysis, we analyzed the fate of GRBs after a whole-genome duplication event in five fish genomes. We found that in most cases all UCNEs were retained together as a single block, whereas the corresponding target genes were often retained in two copies, one completely devoid of UCNEs. This 'winner-takes-all' pattern suggests that UCNEs of a GRB function in a highly cooperative manner. We propose that the multitude of interactions between UCNEs is the reason for their extreme sequence conservation. Supplementary data are available at Bioinformatics online and at http://ccg.vital-it.ch/ucne/

  1. Ancient Transposable Elements Transformed the Uterine Regulatory Landscape and Transcriptome during the Evolution of Mammalian Pregnancy

    Directory of Open Access Journals (Sweden)

    Vincent J. Lynch

    2015-02-01

    Full Text Available A major challenge in biology is determining how evolutionarily novel characters originate; however, mechanistic explanations for the origin of new characters are almost completely unknown. The evolution of pregnancy is an excellent system in which to study the origin of novelties because mammals preserve stages in the transition from egg laying to live birth. To determine the molecular bases of this transition, we characterized the pregnant/gravid uterine transcriptome from tetrapods to trace the evolutionary history of uterine gene expression. We show that thousands of genes evolved endometrial expression during the origins of mammalian pregnancy, including genes that mediate maternal-fetal communication and immunotolerance. Furthermore, thousands of cis-regulatory elements that mediate decidualization and cell-type identity in decidualized stromal cells are derived from ancient mammalian transposable elements (TEs. Our results indicate that one of the defining mammalian novelties evolved from DNA sequences derived from ancient mammalian TEs co-opted into hormone-responsive regulatory elements distributed throughout the genome.

  2. Intramedullary nailing in distal tibial fracture

    Directory of Open Access Journals (Sweden)

    Damian Arroquy

    2015-11-01

    Methods The inclusion criteria of this study were skeletally mature patients with displaced fractures of the distal tibia treated with intramedullary nail with a minimum follow up of one year. Gustilo III open fractures and type C fractures of the AO classification (complete articular Stroke were excluded. The sample comprised 35 patients remained. The follow-up was 29.2 months. We evaluated the time of consolidation, malunion and complications. The functional results were described according to the AOFAS score. Results Of the 35 patients with fracture of the distal third of the tibia all of them presented fracture healing. The average time to union was 17.2 weeks (range: 11-26. Of the total sample, 5 patients had delayed union, requiring dynamic nail on average at 12 weeks. The malunion was present in 4 (11.4% patients. We found no  difference (p = 0.201 in the time to union between fractures associated with fractures of the fibula treated (13sem or not (17sem. The AOFAS score was 86 points. Conclusion Intramedullary nailing with multiple distal locks like a good alternative treatment for distal tibia fractures AO type A or B, with low complication rate and a high rate of consolidation.

  3. Medical Expulsive Therapy for Distal Ureteral Stones

    NARCIS (Netherlands)

    Tzortzis, Vassilios; Mamoulakis, Charalampos; Rioja, Jorge; Gravas, Stavros; Michel, Martin C.; de La Rosette, Jean J. M. C. H.

    2009-01-01

    Although minimally invasive treatments for ureteral stones are efficacious, they are not free of complications and are associated with high cost. Medical expulsive therapy (MET) has recently emerged as an alternative strategy for the initial management of small distal ureteral stories. A MEDLINE

  4. Endovascular treatment of ruptured distal posterior inferior ...

    African Journals Online (AJOL)

    2014-03-01

    Mar 1, 2014 ... Methods: 11 consecutive patients (7 women, 4 men, mean age of 49.2 years) with ruptured distal PICA aneurysms were studied retrospectively. All had onset of acute intraventricular or cerebellar haemorrhage, and subarachnoid hemorrhage. (SAH). Hunt-Hess (HH) grades were H-H I in 1 patient, H-H II in ...

  5. Urethral mobilization and advancement for distal hypospadias ...

    African Journals Online (AJOL)

    Background/purpose Despite the existence of numerous techniques for the repair of distal penile hypospadias, none of them is completely satisfactory. Advancing the urethra without mobilization for repair of glanular hypospadias has the advantage of avoiding a common problem occurring with other techniques: ...

  6. Double Plating of Distal Fibula Fractures.

    Science.gov (United States)

    Vance, Danica D; Vosseller, J Turner

    2017-12-01

    Distal fibula fractures are common orthopaedic injuries that often require open reduction internal fixation (ORIF) to anatomically reduce the fracture and minimize the risk of posttraumatic arthritis. In certain clinical situations, stouter fixation may be advantageous to decrease the risk of fixation failure. In this study, the authors report on 12 patients who underwent distal fibula ORIF with 2 one-third tubular plates. Twelve consecutive patients who underwent distal fibula ORIF with 2 one-third tubular plates were retrospectively reviewed. Clinical and radiographic outcomes were reviewed, and functional outcomes were obtained using the Foot and Ankle Outcome Score (FAOS). Institutional review board approval was obtained. All 12 fractures healed clinically and radiographically. One patient was lost to follow-up after healing of the fracture. One patient had removal of fibular hardware at 15 months after surgery. Ten patients had no hardware related pain and good ankle function. FAOS scores were obtained at a mean of 25.6 months after surgery and were as follows: pain (87.6, SD = 9.5), activities of daily living (90.4, SD = 14.5), symptoms (93.3, SD = 9.5), sports (89.5, SD = 18.1), and quality of life (57.4, SD = 21.3). Double plating of distal fibula fractures is a viable technique for problem fractures that potentially provides a readily accessible, low-cost alternative to other means of enhancing fixation. Level IV.

  7. Computed tomography diagnosis of distal radioulnar subluxation

    International Nuclear Information System (INIS)

    Wechsler, R.J.; Rifkin, M.D.; Edeiken, J.; Branch, H.M.

    1987-01-01

    Eight patients with suspected diagnosis of distal radioulnar joint (DRUJ) subluxation underwent computed tomographic (CT) scans of the wrist. Five underwent surgery and had DRUJ subluxation or dislocation; CT scans revealed subluxation in four. Three CT criteria for the evaluation of DRUJ subluxation are discussed and compared in this manuscript. (orig.)

  8. Ulnar shortening osteotomy for distal radius malunion.

    Science.gov (United States)

    Kamal, Robin N; Leversedge, Fraser J

    2014-08-01

    Background Malunion is a common complication of distal radius fractures. Ulnar shortening osteotomy (USO) may be an effective treatment for distal radius malunion when appropriate indications are observed. Methods The use of USO for treatment of distal radius fracture malunion is described for older patients (typically patients >50 years) with dorsal or volar tilt less than 20 degrees and no carpal malalignment or intercarpal or distal radioulnar joint (DRUJ) arthritis. Description of Technique Preoperative radiographs are examined to ensure there are no contraindications to ulnar shortening osteotomy. The neutral posteroanterior (PA) radiograph is used to measure ulnar variance and to estimate the amount of ulnar shortening required. An ulnar, mid-sagittal incision is used and the dorsal sensory branch of the ulnar nerve is preserved. An USO-specific plating system with cutting jig is used to create parallel oblique osteotomies to facilitate shortening. Intraoperative fluoroscopy and clinical range of motion are checked to ensure adequate shortening and congruous reduction of the ulnar head within the sigmoid notch. Results Previous outcomes evaluation of USO has demonstrated improvement in functional activities, including average flexion-extension and pronosupination motions, and patient reported outcomes. Conclusion The concept and technique of USO are reviewed for the treatment of distal radius malunion when specific indications are observed. Careful attention to detail related to surgical indications and to surgical technique typically will improve range of motion, pain scores, and patient-reported outcomes and will reduce the inherent risks of the procedure, such as ulnar nonunion or the symptoms related to unrecognized joint arthritis.  Level IV.

  9. Does computer use affect the incidence of distal arm pain?

    DEFF Research Database (Denmark)

    Mikkelsen, Sigurd; Lassen, Christina Funch; Vilstrup, Imogen

    2012-01-01

    To study how objectively recorded mouse and keyboard activity affects distal arm pain among computer workers.......To study how objectively recorded mouse and keyboard activity affects distal arm pain among computer workers....

  10. Whorl-specific expression of the SUPERMAN gene of Arabidopsis is mediated by cis elements in the transcribed region.

    Science.gov (United States)

    Ito, Toshiro; Sakai, Hajime; Meyerowitz, Elliot M

    2003-09-02

    The SUPERMAN (SUP) gene of Arabidopsis is involved in controlling cell proliferation in stamen and carpel primordia and in ovules during flower development. The SUP gene encodes a transcription factor with a C2H2-type zinc finger motif, a serine/proline-rich domain, a basic domain, and a leucine-zipper-like domain and is expressed in a very limited region in stamen primordia and in the developing ovary during flower development. The SUP gene is susceptible to methylation, resulting in epigenetic gene silencing. To understand how the SUP gene is expressed spatially and temporally in its restricted domain, and why methylation of the transcribed region affects early-stage SUP expression, we have identified the SUP cis regulatory elements by characterizing SUP gene fusions. These studies show that the SUP gene has discrete upstream promoter elements required for expression in stamen primordia in early stages and in the ovary in later stages. The promoter activity for stamen primordia is modulated by several positive and negative elements located in the transcribed and translated regions. Several regulatory elements in the transcribed region correlate with the areas of the gene that are heavily methylated in epigenetic alleles; these data provide a possible explanation of how methylation of the transcribed region represses transcription.

  11. Distal Fibula Fractures in National Football League Athletes

    OpenAIRE

    Werner, Brian C.; Mack, Christina; Franke, Kristina; Barnes, Ronnie P.; Warren, Russell F.; Rodeo, Scott A.

    2017-01-01

    Background: Despite the frequency of distal fibula fractures in elite athletes and the significant potential impact on the athletes’ season and future careers, little data exist characterizing the epidemiology of these injuries or, more importantly, return to competition. Purpose: To (1) evaluate the incidence of acute distal fibula fractures in National Football League (NFL) athletes, including isolated distal fibula and combined ankle fracture patterns; (2) analyze distal fibula fracture ra...

  12. Distal radioulnar joint: functional anatomy, including pathomechanics.

    Science.gov (United States)

    Haugstvedt, J R; Langer, M F; Berger, R A

    2017-05-01

    The distal radioulnar joint allows the human to rotate the forearm to place the hand in a desired position to perform different tasks, without interfering with the grasping function of the hand. The ulna is the stable part of the forearm around which the radius rotates; the stability of the distal radioulnar joint is provided by the interaction between ligaments, muscles and bones. The stabilizing structures are the triangular fibrocartilage complex, the ulnocarpal ligament complex, the extensor carpi ulnaris tendon and tendon sheath, the pronator quadratus, the interosseous membrane and ligament, the bone itself and the joint capsule. The purpose of this review article is to present and illustrate the current understanding of the functional anatomy and pathomechanics of this joint.

  13. Surgical treatment of distal biceps rupture.

    Science.gov (United States)

    Sutton, Karen M; Dodds, Seth D; Ahmad, Christopher S; Sethi, Paul M

    2010-03-01

    Rupture of the distal biceps tendon accounts for 10% of all biceps brachii ruptures. Injuries typically occur in the dominant elbow of men aged 40 to 49 years during eccentric contraction of the biceps. Degenerative changes, decreased vascularity, and tendon impingement may precede rupture. Although nonsurgical management is an option, healthy, active persons with distal biceps tendon ruptures benefit from early surgical repair, gaining improved strength in forearm supination and, to a lesser degree, elbow flexion. Biomechanical studies have tested the strength and displacement of various repairs; the suspensory cortical button technique exhibits maximum peak load to failure in vitro, and suture anchor and interosseous screw techniques yield the least displacement. Surgical complications include sensory and motor neurapraxia, infection, and heterotopic ossification. Current trends in postoperative rehabilitation include an early return to motion and to activities of daily living.

  14. Fractures of the distal phalanx in the horse

    International Nuclear Information System (INIS)

    Yovich, J.V.

    1989-01-01

    Fractures of the distal phalanx are an important cause of lameness referable to the foot. Depending on the fracture configuration and articular involvement, conservative or surgical treatment may be required. Fractures of the distal phalanx have been divided into six categories based on fracture configuration. Discussion of clinical features, management, and prognosis for horses with distal phalangeal fractures is presented for each fracture type

  15. Carpal alignment in distal radial fractures

    Directory of Open Access Journals (Sweden)

    Jain Pankaj

    2002-05-01

    Full Text Available Abstract Background Carpal malalignment following the malunited distal radial fracture is described to develop as an adaptation to realign the hand to the malunion. It worsens gradually after healing of the fracture due to continued loading of the wrist. It is also reported to develop during the immobilization itself rather than after fracture healing. The present work was aimed to study the natural course and the quantitative assessment of such adaptive carpal realignment following distal radial fracture. Methods In a prospective study, 118 distal radial fractures treated with different modalities were followed-up with serial radiographs for a year for assessment of various radiological parameters. Results Two patterns of carpal malalignment were identified depending upon the effective radio-lunate flexion (ERLF measured on pre-reduction radiographs. The midcarpal malalignment was seen in 98 radial fractures (83% with the lunate following the dorsiflexed fracture fragment and a measured ERLF of less than 25°. The second pattern of radio-carpal malalignment showed the fracture fragment to dorsiflex without taking the lunate with a measured ERLF of more than 25°. The scaphoid did not follow the fracture fragment in both the patterns of malalignment. Conclusion It is better to assess distal radial fractures for any wrist ligamentous injury on the post-reduction film with the restored radial anatomy than on the pre-reduction film since most carpal malalignments get corrected with the reduction of the fracture. Similar carpal malalignment reappear with the redisplacement of the fracture as seen in pre-reduction radiographs and develops during the immobilization rather than as a later compensatory mechanism for the malunion.

  16. Dermoscopic features of distal lateral subungual onychomycosis

    Directory of Open Access Journals (Sweden)

    Thansiha Nargis

    2018-01-01

    Full Text Available Background: Onychomycosis is a very common disease and accounts for upto 50% of the diseases affecting the nail apparatus. Diagnosis of onychomycosis is usually confirmed with the help of a potassium hydroxide (KOH mount and fungal culture. Onychoscopy can be a handy and additional tool for the diagnosis. Aims and Objectives: To determine the dermoscopic findings in distal lateral subungual onychomycosis (DLSO. Materials and Methods: A prospective study of 60 nails with a clinical and mycological diagnosis (KOH with Chicago sky blue positive of DLSO. Dermoscopic examination was performed using a Heine delta 20 plus dermatoscope and the features were recorded. Results: Longitudinal striae and jagged proximal edges seen in all 60 (100% patients. Intermittent spiked pattern was seen in 47 nails (78.3%. Chromonychia and distal irregular termination were noticed in 23 (38.3% and 7 (11.7% nails, respectively. Conclusions: Onychoscopy can be used as an important diagnostic tool while evaluating nail disease, especially in DLSO. Limitations: Small study sample and lack of comparison with other nail diseases that manifests with distal onycholysis.

  17. Miastenia grave distal: relato de caso

    Directory of Open Access Journals (Sweden)

    Scola Rosana Herminia

    2003-01-01

    Full Text Available Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inferiores com predomínio distal com início há 7 anos. Na evolução apresentou fraqueza muscular nos membros superiores. O exame físico mostrava nervos cranianos sem alterações, hipotrofia bilateral de quadriceps e interósseos dos pés, redução da força muscular mais intensa em tibiais anteriores e interósseos dorsais dos pés e reflexos tendinosos globalmente hipoativos. Foi realizado teste de estimulação repetitiva que mostrou decremento maior que 10% no nervo fibular e ulnar. A dosagem de anticorpos anti-receptor de acetilcolina foi positiva. Tomografia computadorizada de tórax foi normal. Dosagem de hormônios tireoidianos mostrou evidências laboratoriais de hipertireoidismo, porém sem manifestações clínicas. Foi iniciado tratamento com piridostigmina havendo melhora importante do quadro clínico. A fraqueza distal é um sintoma inicial raro na miastenia grave (MG. Contudo, a MG deve entrar no diagnóstico diferencial de doenças que cursam com fraqueza muscular distal de membros superiores ou inferiores.

  18. Management and treatment of distal ulcerative colitis

    Directory of Open Access Journals (Sweden)

    Andrea Calafiore

    2013-12-01

    Full Text Available Ulcerative colitis (UC is a chronic inflammatory condition that is confined to the colonic mucosa. Its main symptoms include diarrhea, rectal bleeding and abdominal pain. Approximately two-thirds of UC patients have disease confined distal to the splenic flexure, which can be treated effectively with topical therapy. This means the active drug can be delivered directly to the site of inflammation, limiting the systemic absorption and potential side effects. Topical treatment with aminosalicylates is the most effective approach in the treatment of these forms, provided that the formulation reaches the upper margin of the disease. Given this, the suppository formulation is the treatment of choice for proctitis and distal sigmoiditis. Thanks to their proximal spread, enemas, foams and gels represent the treatment of choice for proctosigmoiditis and for distal ulcerative colitis. Oral aminosalicylates are less effective than topical therapies in patients with active disease, while the combination of topical and oral treatment is more effective in patients refractory to topical or oral mono-therapy. Topically administered aminosalicylates play an important role in the maintenance of remission, but the long-term adhesion to therapy is poor. For this reason, the oral formulation is the first-line therapy in the maintenance of remission. Refractory patients can be treated with topical steroids or systemic steroids and TNF-alpha inhibitors in severe forms.

  19. Finding cis-regulatory modules in Drosophila using phylogenetic hidden Markov models

    DEFF Research Database (Denmark)

    Wong, Wendy S W; Nielsen, Rasmus

    2007-01-01

    MOTIVATION: Finding the regulatory modules for transcription factors binding is an important step in elucidating the complex molecular mechanisms underlying regulation of gene expression. There are numerous methods available for solving this problem, however, very few of them take advantage of th...

  20. Genome-wide screening for cis-regulatory variation using a classical diallel crossing scheme

    NARCIS (Netherlands)

    Kiekens, R.; Vercauteren, A.; Moerkerke, B.; Goetghebeur, E.; Daele, Van Den H.; Sterken, R.; Kuiper, M.; Eeuwijk, van F.A.; Vuylsteke, M.

    2006-01-01

    Large-scale screening studies carried out to date for genetic variants that affect gene regulation are generally limited to descriptions of differences in allele-specific expression (ASE) detected in vivo. Allele-specific differences in gene expression provide evidence for a model whereby cis-acting

  1. Identification of cis-regulatory sequences that activate transcription in the suspensor of plant embryos.

    Science.gov (United States)

    Kawashima, Tomokazu; Wang, Xingjun; Henry, Kelli F; Bi, Yuping; Weterings, Koen; Goldberg, Robert B

    2009-03-03

    Little is known about the molecular mechanisms by which the embryo proper and suspensor of plant embryos activate specific gene sets shortly after fertilization. We analyzed the upstream region of the scarlet runner bean (Phaseolus coccineus) G564 gene to understand how genes are activated specifically within the suspensor during early embryo development. Previously, we showed that the G564 upstream region has a block of tandem repeats, which contain a conserved 10-bp motif (GAAAAG(C)/(T)GAA), and that deletion of these repeats results in a loss of suspensor transcription. Here, we use gain-of-function (GOF) experiments with transgenic globular-stage tobacco embryos to show that only 1 of the 5 tandem repeats is required to drive suspensor-specific transcription. Fine-scale deletion and scanning mutagenesis experiments with 1 tandem repeat uncovered a 54-bp region that contains all of the sequences required to activate transcription in the suspensor, including the 10-bp motif (GAAAAGCGAA) and a similar 10-bp-like motif (GAAAAACGAA). Site-directed mutagenesis and GOF experiments indicated that both the 10-bp and 10-bp-like motifs are necessary, but not sufficient to activate transcription in the suspensor, and that a sequence (TTGGT) between the 10-bp and the 10-bp-like motifs is also necessary for suspensor transcription. Together, these data identify sequences that are required to activate transcription in the suspensor of a plant embryo after fertilization.

  2. Systematic identification of cis-regulatory sequences active in mouse and human embryonic stem cells.

    Directory of Open Access Journals (Sweden)

    Marica Grskovic

    2007-08-01

    Full Text Available Understanding the transcriptional regulation of pluripotent cells is of fundamental interest and will greatly inform efforts aimed at directing differentiation of embryonic stem (ES cells or reprogramming somatic cells. We first analyzed the transcriptional profiles of mouse ES cells and primordial germ cells and identified genes upregulated in pluripotent cells both in vitro and in vivo. These genes are enriched for roles in transcription, chromatin remodeling, cell cycle, and DNA repair. We developed a novel computational algorithm, CompMoby, which combines analyses of sequences both aligned and non-aligned between different genomes with a probabilistic segmentation model to systematically predict short DNA motifs that regulate gene expression. CompMoby was used to identify conserved overrepresented motifs in genes upregulated in pluripotent cells. We show that the motifs are preferentially active in undifferentiated mouse ES and embryonic germ cells in a sequence-specific manner, and that they can act as enhancers in the context of an endogenous promoter. Importantly, the activity of the motifs is conserved in human ES cells. We further show that the transcription factor NF-Y specifically binds to one of the motifs, is differentially expressed during ES cell differentiation, and is required for ES cell proliferation. This study provides novel insights into the transcriptional regulatory networks of pluripotent cells. Our results suggest that this systematic approach can be broadly applied to understanding transcriptional networks in mammalian species.

  3. Maxillary molar distalization with the dual-force distalizer supported by mini-implants: a clinical study.

    Science.gov (United States)

    Oberti, Giovanni; Villegas, Carlos; Ealo, Martha; Palacio, John Camilo; Baccetti, Tiziano

    2009-03-01

    The objective of this prospective study was to describe the clinical effects of a bone-supported molar distalizing appliance, the dual-force distalizer. The study group included 16 patients (mean age, 14.3 years) with Class II molar relationships. Study models and lateral cephalograms were taken before and after the distalizing movement to record significant dental and skeletal changes (Wilcoxon test). The average distalization time was 5 months, with a movement rate of 1.2 mm per month; the distalization amounts were 5.9 +/- 1.72 mm at the crown level and 4.4 +/- 1.41 mm at the furcation level. The average molar inclination was 5.6 degrees +/- 3.7 degrees ; this was less than the amount of inclination generated by bone-supported appliances that use single distalizing forces. The correlation between inclination and distalization was not significant, indicating predominantly bodily movement. The teeth anterior to the first molar moved distally also; the second premolars distalized an average of 4.26 mm, and the incisors retruded by 0.53 mm. The dual-force distalizer is a valid alternative distalizing appliance that generates controlled molar distalization with a good rate of movement and no loss of anchorage.

  4. An innovative technique to distalize maxillary molar using microimplant supported rapid molar distalizer

    Directory of Open Access Journals (Sweden)

    Meenu Goel

    2013-01-01

    Full Text Available Introduction: In recent years, enhancements in implants have made their use possible as a mode of absolute anchorage in orthodontic patients. In this paper, the authors have introduced an innovative technique to unilaterally distalize the upper left 1 st molar to obtain an ideal Class I molar relationship from a Class II existing molar relationship with an indigenous designed distalizer. Clinical Innovation: For effective unilateral diatalization of molar, a novel cantilever sliding jig assembly was utilized with coil spring supported by a buccally placed single micro implant. The results showed 3 mm of bodily distalization with 1 mm of intrusion and 2° of distal tipping of upper left 1 st molar in 1.5 months. Discussion: This appliance is relatively easy to insert, well-tolerated, and requires minimal patient cooperation compared to other present techniques of molar distalization. Moreover, it is particularly useful in cases that are Class II on one side and Class I on the other, with a minor midline discrepancy and nominal overjet. Patient acceptance level was reported to be within patients physiological and comfort limits.

  5. Robotic distal pancreatectomy versus conventional laparoscopic distal pancreatectomy: a comparative study for short-term outcomes.

    Science.gov (United States)

    Lai, Eric C H; Tang, Chung Ngai

    2015-09-01

    Robotic system has been increasingly used in pancreatectomy. However, the effectiveness of this method remains uncertain. This study compared the surgical outcomes between robot-assisted laparoscopic distal pancreatectomy and conventional laparoscopic distal pancreatectomy. During a 15-year period, 35 patients underwent minimally invasive approach of distal pancreatectomy in our center. Seventeen of these patients had robot-assisted laparoscopic approach, and the remaining 18 had conventional laparoscopic approach. Their operative parameters and perioperative outcomes were analyzed retrospectively in a prospective database. The mean operating time in the robotic group (221.4 min) was significantly longer than that in the laparoscopic group (173.6 min) (P = 0.026). Both robotic and conventional laparoscopic groups presented no significant difference in spleen-preservation rate (52.9% vs. 38.9%) (P = 0.505), operative blood loss (100.3 ml vs. 268.3 ml) (P = 0.29), overall morbidity rate (47.1% vs. 38.9%) (P = 0.73), and post-operative hospital stay (11.4 days vs. 14.2 days) (P = 0.46). Both groups also showed no perioperative mortality. Similar outcomes were observed in robotic distal pancreatectomy and conventional laparoscopic approach. However, robotic approach tended to have the advantages of less blood loss and shorter hospital stay. Further studies are necessary to determine the clinical position of robotic distal pancreatectomy.

  6. Topographic matching of distal radius and proximal fibula articular surface for distal radius osteoarticular reconstruction.

    Science.gov (United States)

    Zhang, H; Chen, S; Wang, Z; Guo, Y; Liu, B; Tong, D

    2016-07-01

    During osteoarticular reconstruction of the distal radius with the proximal fibula, congruity between the two articular surfaces is an important factor in determining the quality of the outcome. In this study, a three-dimensional model and a coordinate transformation algorithm were developed on computed tomography scanning. Articular surface matching was performed and parameters for the optimal position were determined quantitatively. The mean radii of best-fit spheres of the articular surfaces of the distal radius and proximal fibula were compared quantitatively. The radial inclination and volar tilt following reconstruction by an ipsilateral fibula graft, rather than the contralateral, best resembles the values of the native distal radius. Additionally, the ipsilateral fibula graft reconstructed a larger proportion of the distal radius articular surface than did the contralateral. The ipsilateral proximal fibula graft provides a better match for the reconstruction of the distal radius articular surface than the contralateral, and the optimal position for graft placement is quantitatively determined. © The Author(s) 2015.

  7. Distal renal tubular acidosis in recurrent renal stone formers

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    (1.1%) had complete distal renal tubular acidosis and 14 (15.5%) incomplete distal renal tubular acidosis. Our results confirm that distal renal tubular acidification defects are associated with a more severe form of stone disease and make distal renal tubular acidosis one of the most frequent...... metabolic disturbances in renal stone formers. Distal renal tubular acidosis (dRTA) was relatively more common in female stone formers and most often found in patients with bilateral stone disease (36%). Since prophylactic treatment in renal stone formers with renal acidification defects is available...

  8. following Wide Resection of Giant Cell Tumour of Distal Ulna

    Directory of Open Access Journals (Sweden)

    Elango Mariappan

    2013-01-01

    Full Text Available Giant cell tumour of the bone (GCT is a rare locally aggressive primary bone tumour with an incidence of 3% to 5% of all primary bone tumours. The most common location for this tumour is the long bone metaepiphysis especially of the distal femur, proximal tibia, distal radius, and the proximal humerus. Involvement of distal ulna is rare accounting for 0.45% to 3.2%. Considering local aggressive nature and high recurrence, wide resection is the treatment recommended. Instability of ulnar stump and ulnar translation of the carpals are known complications following resection of distal ulna. To overcome these problems, we attempted a newer technique of distal ulna reconstruction using proximal fibula and TFCC reconstruction using palmaris longus tendon following wide resection of giant cell tumour of distal ulna in a 44-year-old male. This technique of distal radioulnar joint reconstruction has excellent functional results with no evidence of recurrence after one-year followup.

  9. The biomechanical analysis of three-dimensional distal radius fracture model with different fixed splints.

    Science.gov (United States)

    Hua, Zhen; Wang, Jian-Wei; Lu, Zhen-Fei; Ma, Jian-Wei; Yin, Heng

    2018-01-30

    The distal radius fracture is one of the common clinical fractures. At present, there are no reports regarding application of the finite element method in studying the mechanism of Colles fracture and the biomechanical behavior when using splint fixation. To explore the mechanism of Colles fracture and the biomechanical behavior when using different fixed splints. Based on the CT scanning images of forearm for a young female volunteer, by using model construction technology combined with RPOE and ANSYS software, a 3-D distal radius fracture forearm finite element model with a real shape and bioactive materials is built. The material tests are performed to obtain the mechanical properties of the paper-based splint, the willow splint and the anatomical splint. The numerical results are compared with the experimental results to verify the correctness of the presented model. Based on the verified model, the stress distribution of different tissues are analyzed. Finally, the clinical tests are performed to observe and verify that the anatomical splint is the best fit for human body. Using the three kinds of splints, the transferred bone stress focus on the distal radius and ulna, which is helpful to maintain the stability of fracture. Also the stress is accumulated in the distal radius which may be attributed to flexion position. Such stress distribution may be helpful to maintain the ulnar declination. By comparing the simulation results with the experimental observations, the anatomical splint has the best fitting to the limb, which can effectively avoid the local compression. The anatomical splint is the most effective for fixing and curing the fracture. The presented model can provide theoretical basis and technical guide for further investigating mechanism of distal radius fracture and clinical application of anatomical splint.

  10. The role of hand-assisted laparoscopic distal gastrectomy for distal gastric cancer.

    Science.gov (United States)

    Kim, Y W; Bae, J M; Lee, J H; Ryu, K W; Choi, I J; Kim, C G; Lee, J S; Rho, J Y

    2005-01-01

    The aim of this study was to evaluate the role of hand-assisted distal gastrectomy (HALDG) for gastric cancer. This study prospectively enrolled 16 patients who underwent HALDG for early gastric cancer and matched them individually by sex, age, and body mass index to patients who underwent laparoscopically assisted distal gastrectomy (LADG) or open distal gastrectomy (ODG). Surgical outcomes were compared among the surgical methods. The mean operating time was the longest for the HALDG group, whereas wound size of the HALDG group was intermediate between that of the LADG and the ODG groups. The other surgical outcomes, such as the number of harvested lymph nodes, were not different among the groups. According to the findings, HALDG may not be as beneficial for patients with early gastric cancer as has been previously suggested. However, because of easier hand-eye coordination, HALDG may be an excellent bridge learning technique as a surgeon gains experience in laparoscopic gastrectomy.

  11. Contact mechanics of reverse engineered distal humeral hemiarthroplasty implants.

    Science.gov (United States)

    Willing, Ryan; King, Graham J W; Johnson, James A

    2015-11-26

    Erosion of articular cartilage is a concern following distal humeral hemiarthroplasty, because native cartilage surfaces are placed in contact with stiff metallic implant components, which causes decreases in contact area and increases in contact stresses. Recently, reverse engineered implants have been proposed which are intended to promote more natural contact mechanics by reproducing the native bone or cartilage shape. In this study, finite element modeling is used in order to calculate changes in cartilage contact areas and stresses following distal humeral hemiarthroplasty with commercially available and reverse engineered implant designs. At the ulna, decreases in contact area were -34±3% (p=0.002), -27±1% (pengineered and cartilage reverse engineered designs, respectively. Peak contact stresses increased by 461±57% (p=0.008), 387±127% (p=0.229) and 165±16% (p=0.003). At the radius, decreases in contact area were -21±3% (p=0.013), -13±2% (p0.999), 241±32% (p=0.010) and 61±10% (p=0.021). Between the three different implant designs, the cartilage reverse engineered design yielded the largest contact areas and lowest contact stresses, but was still unable to reproduce the contact mechanics of the native joint. These findings align with a growing body of evidence indicating that although reverse engineered hemiarthroplasty implants can provide small improvements in contact mechanics when compared with commercially available designs, further optimization of shape and material properties is required in order reproduce native joint contact mechanics. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. OUTCOME OF FRACTURE OF INTRAARTICULAR DISTAL FEMUR TREATED WITH DISTAL FEMUR LOCKING COMPRESSION PLATE

    Directory of Open Access Journals (Sweden)

    Swapna Pran Saikia

    2017-10-01

    Full Text Available BACKGROUND The most challenging fractures faced by orthopaedic surgeons are the distal fractures of femur, especially the intraarticular distal femoral fractures. These fractures have been classified according to Orthopaedic Trauma Association (OTA 33-C3. Distal femoral fractures account to 4-7% of all femoral fractures and are less common compared to hip fractures. The aim of the study is to study the functional outcome of fracture of intraarticular distal femur treated with distal femur locking compression plate. MATERIALS AND METHODS This study is a prospective study, which comprised of 30 patients of intraarticular distal femur fracture AO classification 33-C3 who were treated by locking compression plate at Jorhat Medical College and Hospital, Jorhat, Assam. This study was conducted during February 2015 to April 2017. The functional outcome was studied using Neer’s score, outcome of radiology and complication with fracture fixation using LCP. RESULTS Out of 30 patients, 22 were males (73.3% and 8 were females (26.7%. 18 patients had fracture right hand side and 12 patients had left-handed fractures. A 19 years old was the youngest patient and 72 years was the oldest patient. About 70% patients had sustained road traffic accidents and 10% had sustained fall from a height. Four days was the average trauma to operative interval, 22 patients were operated extensile lateral approach and 8 patients were operated by swashbuckler approach. 12 weeks was the average weightbearing duration, 21 weeks was average time for fracture healing. 10 patients had C1 (33.3%, 12 patients had C2 (40% and 8 patients had C3 (26.7% type of fracture according to AO classification. Among 30 patients, 13 patients have shown excellent results, 7 patients have good results, 5 fair results and 5 poor results. Primary bone grafting was done in 4 patients for severely comminuted type C3 fracture. Secondary bone grafting was done in 2 patients who had delayed union at 4

  13. Repair of distal biceps brachii tendon ruptures.

    Science.gov (United States)

    Bell, R H; Wiley, W B; Noble, J S; Kuczynski, D J

    2000-01-01

    This study consisted of 26 male patients with distal biceps tendon ruptures, 2 of whom had bilateral injuries, making the total number of ruptures 28. The average age at injury was 45 years. The treatment groups were the following: 3 were treated without surgery, 4 were repaired with brachialis tenodesis, and 21 were reattached to the radial tuberosity by the 2-incision Boyd-Anderson approach. Patients underwent follow-up a minimum of 14 months after surgery, with the average being 43 months. Outcome was evaluated based on the physical examination, isokinetic testing of strength and endurance of flexion and supination, and radiographic analysis.

  14. Periosteal osteoblastoma of the distal femur

    Energy Technology Data Exchange (ETDEWEB)

    Nakatani, Tetsuya; Yamamoto, Tetsuji; Akisue, Toshihiro; Marui, Takashi; Hitora, Toshiaki; Kawamoto, Teruya; Nagira, Keiko; Yoshiya, Shinichi; Kurosaka, Masahiro [Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe (Japan); Fujita, Ikuo; Matsumoto, Keiji [Department of Orthopaedic Surgery, Hyogo Medical Center for Adults, Akashi, Hyogo (Japan)

    2004-02-01

    Osteoblastomas located on the surface of the cortical bone, so-called periosteal osteoblastomas, are extremely rare. We report on a case of periosteal osteoblastoma arising from the posterior surface of the right distal femur in a 17-year-old man. Roentgenographic, computed tomographic, magnetic resonance imaging, and histologic features of the case are presented. Periosteal osteoblastoma should be radiologically and histologically differentiated from myositis ossificans, avulsive cortical irregularity syndrome, osteoid osteoma, parosteal osteosarcoma, periosteal osteosarcoma, and high-grade surface osteosarcoma. Although periosteal osteoblastoma is rare, this tumor should be included in the differential diagnosis of surface-type bone tumors. (orig.)

  15. Periosteal osteoblastoma of the distal femur

    International Nuclear Information System (INIS)

    Nakatani, Tetsuya; Yamamoto, Tetsuji; Akisue, Toshihiro; Marui, Takashi; Hitora, Toshiaki; Kawamoto, Teruya; Nagira, Keiko; Yoshiya, Shinichi; Kurosaka, Masahiro; Fujita, Ikuo; Matsumoto, Keiji

    2004-01-01

    Osteoblastomas located on the surface of the cortical bone, so-called periosteal osteoblastomas, are extremely rare. We report on a case of periosteal osteoblastoma arising from the posterior surface of the right distal femur in a 17-year-old man. Roentgenographic, computed tomographic, magnetic resonance imaging, and histologic features of the case are presented. Periosteal osteoblastoma should be radiologically and histologically differentiated from myositis ossificans, avulsive cortical irregularity syndrome, osteoid osteoma, parosteal osteosarcoma, periosteal osteosarcoma, and high-grade surface osteosarcoma. Although periosteal osteoblastoma is rare, this tumor should be included in the differential diagnosis of surface-type bone tumors. (orig.)

  16. Mini-implant-supported Molar Distalization

    Directory of Open Access Journals (Sweden)

    Amit Goyal

    2012-01-01

    Full Text Available Temporary anchorage devices popularly called mini-implants or miniscrews are the latest addition to an orthodontist′s armamentarium. The following case report describes the treatment of a 16-year-old girl with a pleasant profile, moderate crowding and Angle′s Class II molar relationship. Maxillary molar distalization was planned and mini-implants were used to preserve the anterior anchorage. After 13 months of treatment, Class I molar and canine relation was achieved bilaterally and there was no anterior proclination. Thus, mini-implants provide a viable option to the clinician to carry out difficult tooth movements without any side effects.

  17. Distal radius fracture after proximal row carpectomy

    OpenAIRE

    Igeta, Yuka; Naito, Kiyohito; Sugiyama, Yoichi; Obata, Hiroyuki; Aritomi, Kentaro; Kaneko, Kazuo; Obayashi, Osamu

    2015-01-01

    Introduction: We encountered a patient with distal radius fracture (DRF) after proximal row carpectomy (PRC). The mechanism of the DRF after PRC is discussed in this report. Presentation of case: The patient was a 73-year-old female who had undergone PRC due to Kienböck disease before. The wrist range of motion was: 45° on dorsiflexion and 20° on flexion. DRF has occurred at 3 years after PRC. The fracture type was extra-articular fracture. Osteosynthesis was performed using a volar lockin...

  18. Dermal pocketing following distal finger replantation.

    Science.gov (United States)

    Puhaindran, Mark E; Paavilainen, Pasi; Tan, David M K; Peng, Yeong Pin; Lim, Aymeric Y T

    2010-08-01

    Replantation is an ideal technique for reconstruction following fingertip amputation as it provides 'like for like' total reconstruction of the nail complex, bone pulp tissue and skin with no donor-site morbidity. However, fingertips are often not replanted because veins cannot be found or are thought to be too small to repair. Attempts at 'cap-plasty' or pocketing of replanted tips with and without microvascular anastomosis have been done in the past with varying degrees of success. We prospectively followed up a group of patients who underwent digital replantation and dermal pocketing in the palm to evaluate the outcome of this procedure. There were 10 patients with 14 amputated digits (two thumbs, five index, four middle, two ring and one little) who underwent dermal pocketing of the amputated digit following replantation. Among the 14 digits that were treated with dermal pocketing, 11 survived completely, one had partial atrophy and two were completely lost. Complications encountered included finger stiffness (two patients) and infection of the replanted fingertip with osteomyelitis of the distal phalanx (one patient). We believe that this technique can help increase the chance of survival for distal replantation with an acceptable salvage rate of 85% in our series. Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  19. Maxillary molar distalization with first class appliance.

    Science.gov (United States)

    Ramesh, Namitha; Palukunnu, Biswas; Ravindran, Nidhi; Nair, Preeti P

    2014-02-27

    Non-extraction treatment has gained popularity for corrections of mild-to-moderate class II malocclusion over the past few decades. The distalization of maxillary molars is of significant value for treatment of cases with minimal arch discrepancy and mild class II molar relation associated with a normal mandibular arch and acceptable profile. This paper describes our experience with a 16-year-old female patient who reported with irregularly placed upper front teeth and unpleasant smile. The patient was diagnosed to have angles class II malocclusion with moderate maxillary anterior crowding, deep bite of 4 mm on a skeletal class II base with an orthognathic maxilla and retrognathic mandible and normal growth pattern. She presented an ideal profile and so molar distalization was planned with the first-class appliance. Molars were distalised by 8 mm on the right and left quadrants and class I molar relation achieved within 4 months. The space gained was utilised effectively to align the arch and establish a class I molar and canine relation.

  20. Biotin absorption by distal rat intestine

    International Nuclear Information System (INIS)

    Bowman, B.B.; Rosenberg, I.H.

    1987-01-01

    We used the in vivo intestinal loop approach, with short (10-min) and long (3-h) incubations, to examine biotin absorption in proximal jejunum, distal ileum, cecum and proximal colon. In short-term studies, luminal biotin disappearance from rat ileum was about half that observed in the jejunum, whereas absorption by proximal colon was about 12% of that in the jejunum. In 3-h closed-loop studies, the absorption of 1.0 microM biotin varied regionally. Biotin absorption was nearly complete in the small intestine after 3 h; however, only about 15% of the dose had been absorbed in the cecum and 27% in the proximal colon after 3 h. Independent of site of administration, the major fraction of absorbed biotin was recovered in the liver; measurable amounts of radioactive biotin were also present in kidney and plasma. The results support the potential nutritional significance for the rat of biotin synthesized by bacteria in the distal intestine, by demonstrating directly an absorptive capability of mammalian large bowel for this vitamin

  1. Distal radius fracture after proximal row carpectomy.

    Science.gov (United States)

    Igeta, Yuka; Naito, Kiyohito; Sugiyama, Yoichi; Obata, Hiroyuki; Aritomi, Kentaro; Kaneko, Kazuo; Obayashi, Osamu

    2015-01-01

    We encountered a patient with distal radius fracture (DRF) after proximal row carpectomy (PRC). The mechanism of the DRF after PRC is discussed in this report. The patient was a 73-year-old female who had undergone PRC due to Kienböck disease before. The wrist range of motion was: 45° on dorsiflexion and 20° on flexion. DRF has occurred at 3 years after PRC. The fracture type was extra-articular fracture. Osteosynthesis was performed using a volar locking plate. No postoperative complication developed, the Mayo score was excellent at 6 months after surgery, and the daily living activity level recovered to that before injury. Since the wrist range of motion decreased and the lunate fitted into the joint surface after PRC, making the forearm join with the hand like a single structure, pressure may have been loaded on the weak distal end of the radius from the dorsal side, causing volar displacement and fracture. The pressure distribution and range of motion of the radiocarpal joint after PRC are different from those of a normal joint, and the mechanism of fracture also changes due to PRC. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Osteoid osteoma of the distal clavicle

    Directory of Open Access Journals (Sweden)

    Bernardo Barcellos Terra

    Full Text Available ABSTRACT The osteoid osteoma is a bone tumor that accounts for 10% of benign tumors. It was described in 1935 by Jaffe, as a tumor that affects the young adult population, with a predominance of males. This study aims to present a case of late diagnosis of a patient with osteoid osteoma of the distal clavicle region. Female patient, 44 years old, non-professional volleyball player, reported pain in the anterior and superior region of the shoulder girdle, specifically in the acromioclavicular joint, which worsened at night and had been treated for nine months as tendinitis of the rotator cuff and acromioclavicular joint arthritis. After confirming the diagnosis, the patient underwent open surgery with resection of the distal clavicle. At two years of follow-up, the patient presents without local pain. In the radiographic evaluation, coracoclavicular distance is preserved and there are no signs of recurrence. Tumors of the shoulder girdle are rare and are often diagnosed late. A high degree of suspicion for the diagnosis of tumors of the shoulder girdle is needed in order to avoid late diagnosis.

  3. Clinical profile of distal renal tubular acidosis

    Directory of Open Access Journals (Sweden)

    Ratan Jha

    2011-01-01

    Full Text Available To determine the clinical profile and progression of renal dysfunction in distal renal tubular acidosis (dRTA, we retrospectively studied 96 consecutive cases of dRTA diagnosed at our center. Patients with unexplained metabolic bone disease, short stature, hypokalemia, re-current renal stones, chronic obstructive uropathy or any primary autoimmune condition known to cause dRTA were screened. Distal RTA was diagnosed on the basis of systemic metabolic acidosis with urine pH >5.5 and positive urine anion gap. In those patients who had fasting urine pH >5.5 with normal baseline systemic pH and bicarbonate levels (incomplete RTA, acid load test with ammonium chloride was done. A cause of dRTA could be established in 53 (54% patients. Urological defect in children (22/44 and autoimmune disease in adults (11/52 were the commonest causes. Hypokalemic paralysis, proximal muscle weakness and voiding difficulty were the common modes of presentation. Doubling of serum creatinine during the study period was noted in 13 out of 27 patients who had GFR 60 mL/min (P <0.005. In conclusion, urological disorders were the commonest cause of dRTA in children while autoimmune disorders were the commonest asso-ciation in adults. Worse baseline renal function, longer duration of disease and greater frequency of nephrolithiasis/nephrocalcinosis and urological disorders were noted in those who had wor-sening of renal dysfunction during the study period.

  4. Structure-aided prediction of mammalian transcription factor complexes in conserved non-coding elements

    KAUST Repository

    Guturu, H.

    2013-11-11

    Mapping the DNA-binding preferences of transcription factor (TF) complexes is critical for deciphering the functions of cis-regulatory elements. Here, we developed a computational method that compares co-occurring motif spacings in conserved versus unconserved regions of the human genome to detect evolutionarily constrained binding sites of rigid TF complexes. Structural data were used to estimate TF complex physical plausibility, explore overlapping motif arrangements seldom tackled by non-structure-aware methods, and generate and analyse three-dimensional models of the predicted complexes bound to DNA. Using this approach, we predicted 422 physically realistic TF complex motifs at 18% false discovery rate, the majority of which (326, 77%) contain some sequence overlap between binding sites. The set of mostly novel complexes is enriched in known composite motifs, predictive of binding site configurations in TF-TF-DNA crystal structures, and supported by ChIP-seq datasets. Structural modelling revealed three cooperativity mechanisms: direct protein-protein interactions, potentially indirect interactions and \\'through-DNA\\' interactions. Indeed, 38% of the predicted complexes were found to contain four or more bases in which TF pairs appear to synergize through overlapping binding to the same DNA base pairs in opposite grooves or strands. Our TF complex and associated binding site predictions are available as a web resource at http://bejerano.stanford.edu/complex.

  5. Comparison of Jones jig molar distalization appliance with extraoral traction.

    Science.gov (United States)

    Haydar, S; Uner, O

    2000-01-01

    In this study, 20 patients were evaluated. Ten were treated with intraoral distalization followed by fixed appliance therapy, and 10 were treated with extra oral traction followed by fixed appliance therapy. Molar relationship correction was achieved in 2.5 months with intraoral distalization and in 10.7 months with extraoral distalization. A significant anterior movement of the anchorage unit (P <.001) was observed with the intraoral distalization and a significant distal drift of premolars was observed in the headgear group (P <.05). Palatal plane was found to tip downward significantly in the headgear group (P <.05). Total outcome of the 2 methods were discussed evaluating the advantages and disadvantages of the 2 distalization methods.

  6. The Supination-Pronation Test for Distal Biceps Tendon Rupture.

    Science.gov (United States)

    Metzman, Louis S; Tivener, Kristin A

    2015-10-01

    Prompt diagnosis of a distal biceps tendon complete rupture increases the ability to perform a primary repair and to restore motion and strength. When examining an acute injury, it is important to isolate the biceps brachii tendon from the lacertus fibrosus and the brachialis because the examiner may mistakenly miss a distal tendon rupture by not isolating supination and pronation. The supination-pronation test can be performed easily in the acute setting and confirms attachment of the biceps tendon distally to the bicipital tuberosity of the radius. If the distal biceps tendon is intact, there is substantial change in the shape of the biceps as the arm is supinated (the biceps moves proximally), then pronated (the biceps moves distally). Clinically, the supination-pronation test has been found to be a reliable, pain-free test that should be incorporated in the physical examination to evaluate patients for distal biceps injury.

  7. Distal renal tubular acidosis in recurrent renal stone formers

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    Renal acidification ability was examined in 90 recurrent renal stone formers, using fasting morning urinary pH levels followed by a short ammonium chloride loading test in subjects with pH levels above 6.0. Fifteen patients (16.6%) revealed a distal renal tubular acidification defect: one patient...... (1.1%) had complete distal renal tubular acidosis and 14 (15.5%) incomplete distal renal tubular acidosis. Our results confirm that distal renal tubular acidification defects are associated with a more severe form of stone disease and make distal renal tubular acidosis one of the most frequent...... metabolic disturbances in renal stone formers. Distal renal tubular acidosis (dRTA) was relatively more common in female stone formers and most often found in patients with bilateral stone disease (36%). Since prophylactic treatment in renal stone formers with renal acidification defects is available...

  8. Aquaporin-4 expression in distal myopathy with rimmed vacuoles

    OpenAIRE

    Hoshi, Akihiko; Yamamoto, Teiji; Kikuchi, Saeko; Soeda, Tomoko; Shimizu, Keiko; Ugawa, Yoshikazu

    2012-01-01

    Abstract Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. Case presentation Here, we studied the expression of aquaporin-4 in muscle fibers of a patient...

  9. Refractory rickets caused by mild distal renal tubular acidosis

    OpenAIRE

    Ji-Ho Lee; Joo Hyun Park; Tae-Sun Ha; Heon-Seok Han

    2013-01-01

    Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mild deterioration in renal function. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets...

  10. Distal Xq duplication and functional Xq disomy

    Directory of Open Access Journals (Sweden)

    Schluth-Bolard Caroline

    2009-02-01

    Full Text Available Abstract Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq. Clinical manifestations widely vary depending on the gender of the patient and on the gene content of the duplicated segment. Prevalence of Xq duplications remains unknown. About 40 cases of Xq28 functional disomy due to cytogenetically visible rearrangements, and about 50 cases of cryptic duplications encompassing the MECP2 gene have been reported. The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial features (premature closure of the fontanels or ridged metopic suture, broad face with full cheeks, epicanthal folds, large ears, small and open mouth, ear anomalies, pointed nose, abnormal palate and facial hypotonia, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and proneness to infections. Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males, structural X disomy always results in functional disomy. In females, failure of X chromosome dosage compensation could result from a variety of mechanisms, including an unfavourable pattern of inactivation, a breakpoint separating an X segment from the X-inactivation centre in cis, or a small ring chromosome. The MECP2 gene in Xq28 is the most important dosage-sensitive gene responsible for the abnormal phenotype in duplications of distal Xq. Diagnosis is based on clinical features and is confirmed by CGH array techniques. Differential diagnoses include Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X. The recurrence risk is significant if a structural rearrangement is present in one of the parent, the most frequent situation being that of an intrachromosomal duplication inherited from the mother. Prenatal diagnosis is performed by

  11. Refractory rickets caused by mild distal renal tubular acidosis

    Directory of Open Access Journals (Sweden)

    Ji-Ho Lee

    2013-09-01

    Full Text Available Type I (distal renal tubular acidosis (RTA is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mild deterioration in renal function. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets. We describe a case of distal RTA with nephrocalcinosis during follow-up of rickets in a patient who presented with clinical manifestations of short stature, failure to thrive, recurrent vomiting, dehydration, and irritability.

  12. Outcome in corrective osteotomy for malunited distal radius fractures.

    Science.gov (United States)

    Samson, Lucjan; Treder, Mariusz; Kolarz, Krzysztof; Lorczyński, Adam

    2007-01-01

    This article reports outcome in osteotomy for malunion of distal radius fractures. We evaluated 12 patients with distal radius malunion (mean age 54), who were treated with corrective osteotomy. Wrist motion and grip strength were evaluated, along with examination of pre and post osteotomy radiographs. The indications for corrections were degree of deformity, limitation of function, pain, and the appearance of the wrist. The radiographic evaluation proved that the restoration of the normal anatomic relationship between the distal radius and ulna leads to significant improvement of the function of the hand, as measured by range of motion and grip strength. Osteotomy of the distal radius in cases of malunion gives favorable outcomes.

  13. Computed tomography diagnosis of distal radioulnar joint subluxation

    International Nuclear Information System (INIS)

    Lu Laijin; Nakamura, Ryogo; Nakao, Etsuhiro; Hidaka, Yasuhiro; Shionoya, Kaori.

    1995-01-01

    Although computed tomography (CT) provides the most reliable diagnostic information about distal radioulnar joint dislocation and subluxation, the method for assessing distal radioulnar joint integrity on CT is controversial. We studied roentgenographic diagnosis and three methods of CT diagnosis in 20 patients with suspected distal radioulnar dislocation or subluxation. Sensitivity was 35% in roentgenographic diagnosis and 70 to 100% in CT diagnosis. Of the three methods of CT diagnosis, Mino's radioulnar line method showed 100% sensitivity to subluxation including dislocation. We believe Mino's method is the most reliable method for the diagnosis of distal radioulnar dislocation in unilateral CT. (author)

  14. Computed tomography diagnosis of distal radioulnar joint subluxation

    Energy Technology Data Exchange (ETDEWEB)

    Lu Laijin [Bethune (N.) Medical Univ., Changchun, JL (China); Nakamura, Ryogo; Nakao, Etsuhiro; Hidaka, Yasuhiro; Shionoya, Kaori

    1995-08-01

    Although computed tomography (CT) provides the most reliable diagnostic information about distal radioulnar joint dislocation and subluxation, the method for assessing distal radioulnar joint integrity on CT is controversial. We studied roentgenographic diagnosis and three methods of CT diagnosis in 20 patients with suspected distal radioulnar dislocation or subluxation. Sensitivity was 35% in roentgenographic diagnosis and 70 to 100% in CT diagnosis. Of the three methods of CT diagnosis, Mino`s radioulnar line method showed 100% sensitivity to subluxation including dislocation. We believe Mino`s method is the most reliable method for the diagnosis of distal radioulnar dislocation in unilateral CT. (author).

  15. A unified architecture of transcriptional regulatory elements

    DEFF Research Database (Denmark)

    Andersson, Robin; Sandelin, Albin Gustav; Danko, Charles G.

    2015-01-01

    Gene expression is precisely controlled in time and space through the integration of signals that act at gene promoters and gene-distal enhancers. Classically, promoters and enhancers are considered separate classes of regulatory elements, often distinguished by histone modifications. However, re...

  16. Post-transplant distal limb syndrome

    Directory of Open Access Journals (Sweden)

    María Florencia Borghi Torzillo

    2017-02-01

    Full Text Available The post-transplant distal limb syndrome is a not well known entity, with a prevalence of 5% in patients with renal transplant. Its diagnosis is based on clinical symptoms, bone scintigraphy and MRI, it has a benign course and the patient recovers without sequel. We present the case of a 37-year-old male, with medical history of hypertension, Berger's disease in 1999 that required dialysis three times a week for four years (2009-2013 and renal transplant in 2013. The patient consults on January 2014 referring severe pain in both feet, with sudden onset; he remembers the exact date of the beginning of the pain and denies trauma, pain prevents ambulation. The bone scintigraphy shows pathological uptake in both feet with no difference between the two. Although there is no treatment for this disease, it has a benign course

  17. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

    Directory of Open Access Journals (Sweden)

    Evelyn N Kouwenhoven

    2010-08-01

    Full Text Available Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM, orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for other malformation disorders. We performed genome-wide DNA-binding profiling by chromatin immunoprecipitation (ChIP, followed by deep sequencing (ChIP-seq in primary human keratinocytes, and identified potential target genes and regulatory elements controlled by p63. We show that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. A unique micro-deletion including this enhancer element, but not the DLX5/DLX6 genes, was identified in a patient with SHFM. Our study strongly indicates disruption of a non-coding cis-regulatory element located more than 250 kb from the DLX5/DLX6 genes as a novel disease mechanism in SHFM1. These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes.

  18. [Comparison of laparoscopic distal pancreatectomy and open distal pancreatectomy in pancreatic ductal adenocarcinoma].

    Science.gov (United States)

    Xu, K; Su, J J; Su, M; Yan, L; Feng, J; Xin, X L; Chen, Y L

    2017-10-23

    Objective: To compare and evaluate the curative effect of laparoscopic distal pancreatectomy(LDP) and traditional open distal pancreatectomy(ODP) in pancreatic ductal adenocarcinoma. Methods: The clinical data of 15 patients treated by LDP and 87 contemporaneous cases treated by ODP from January 2010 to November 2015 was collected, and the curative effect and prognosis of these patients were retrospectively analyzed. Results: The operation time of LDP group was (286.5±48.1) min, significantly longer than that of OPD group(226.6±56.8) min ( P 0.05). In both LDP group and ODP group, none occurred percutaneous drainage, re-admissions, second operation or perioperative death. Conclusions: Compared to ODP, LDP is much safer and more steady in perioperative periodand operation. Patients of pancreatic ductal adenocarcinoma received LDP can acquire more benefit and recovery sooner, and LDP is a safe and effective operative method.

  19. [Retrograde locking nail osteosynthesis of distal femoral fractures with the distal femoral nail (DFN)].

    Science.gov (United States)

    Grass, R; Biewener, A; Rammelt, S; Zwipp, H

    2002-04-01

    Non-operative treatment with immobilization or isometric traction has been abandoned as treatment for fractures of the distal femur at the end of the 1960ies. The technique of open reduction and internal fixation with a condylar plate as suggested by the AO has been the golden standard since the 1970ies. However, anatomic reconstruction of the condylar region with interfragmentary screw fixation and axial realignment of the femur shaft with a plate are challenging procedures especially in the presence of severely compromised soft tissues and put periosteal blood supply at risk. Soft tissue complications, axial malalignment and delayed fracture healing times led to the consideration of alternative techniques, such as intramedullary nailing which has been practiced with success since the 1940ies by Gerhard Küntscher and colleagues for femoral shaft fractures with minimal complication rates and improved results after closed reduction. The era of retrograde femoral nailing began with the systematic approach through the intercondylar notch by Green. This paper reviews the biomechanical properties, indication, technique as well as potential hazards and pitfalls of fracture management with the AO "distal femoral nail" (DFN). With appropriate application this technique is suitable for all fractures of the distal third of the femoral shaft including highly instable bicondylar fractures without damage to the soft tissues and the knee joint.

  20. Urethral advancement procedure in the treatment of primary distal ...

    African Journals Online (AJOL)

    Introduction: Distal hypospadias is the most common genital anomaly, occurring in almost 65% of all hypospadias cases. Although there are several surgical techniques for the treatment of distal hypospadias, it is clear that none can be used to correct all forms of hypospadias. The aim of the study was to evaluate urethral ...

  1. Experience with Quartey's Distal Penile Island Skin Flap ...

    African Journals Online (AJOL)

    Objective: To evaluate our experience with Quartey's distal penile island skin flap urethroplasty in the treatment of urethral stricture in two tertiary hospitals in South Western Nigeria. Patients and Methods: Between June 2002 and May 2005, 18 patients with a mean age of 42.2 years (range: 25 – 75 years) underwent distal ...

  2. Distal radius fractures: what determines the outcome after surgery?

    NARCIS (Netherlands)

    Teunis, T.

    2016-01-01

    This thesis addresses current issues in the outcome of operatively treated distal radius fractures. The general aim was to determine factors associated with adverse events, loss of motion, functional limitations, and opioid use after surgery. Injury In 3D complete articular distal radius fracture

  3. Outcome of ureteroscopy for the management of distal ureteric calculi

    African Journals Online (AJOL)

    Objective: To review our 5 years' experience with ureteroscopy treatment of distal ureteric calculi. Patients and methods: We reviewed the medical records of 136 patients who underwent ureteroscopic procedures for the treatment of distal ureteric calculi from February 2007 to October 2012. Patient and stone characteristics, ...

  4. Clinical relevance of distal biceps insertional and footprint anatomy

    NARCIS (Netherlands)

    van den Bekerom, Michel P J; Kodde, Izaäk F.; Aster, Asir; Bleys, Ronald L A W|info:eu-repo/dai/nl/134440455; Eygendaal, Denise

    2016-01-01

    Purpose: The aim of this review was to present an overview, based on a literature search, of surgical anatomy for distal biceps tendon repairs, based on the current literature. Methods: A narrative review was performed using Pubmed/Medline using key words: Search terms were distal biceps,

  5. Current concepts in fractures of the distal femur.

    Science.gov (United States)

    Link, B-C; Babst, R

    2012-01-01

    This paper describes current treatment strategies of distal femoral fractures as well as their evidence based rationale. The treatment of distal femoral fractures has improved with the evolution of plating and nailing technologies. The commonly selected surgical approaches are outlined and surgical treatment techniques including both internal and external fixation are discussed.

  6. Distal clavicular osteolysis: MR evidence for subchondral fracture

    Energy Technology Data Exchange (ETDEWEB)

    Kassarjian, Ara; Palmer, William E. [Massachusetts General Hospital, Department of Radiology, Division of Musculoskeletal Radiology, Yawkey Center, Boston, MA (United States); Llopis, Eva [Hospital de la Ribera, Department of Radiology, Valencia (Spain)

    2007-01-15

    To investigate the association between distal clavicular osteolysis and subchondral fractures of the distal clavicle at MRI. This study was approved by the hospital human research committee, which waived the need for informed consent. Three radiologists retrospectively analyzed 36 shoulder MR examinations in 36 patients with imaging findings of distal clavicular osteolysis. The presence of a subchondral fracture of the distal clavicle, abnormalities of the acromioclavicular joint, rotator cuff tears and labral tears were assessed by MRI. These cases were then compared with 36 age-matched controls. At MRI, 31 of 36 patients (86%) had a subchondral line within the distal clavicular edema, consistent with a subchondral fracture. Of the 36 patients, 32 (89%) had fluid in the acromioclavicular joint, while 27 of 36 patients (75%) had cysts or erosions in the distal clavicle. There were 13 patients (36%) with associated labral tears, while eight patients (22%) had partial-thickness rotator cuff tears. In the control group one of 36 (3%) had a subchondral line (P<0.05), while ten of 36 (28%) had rotator cuff tears and 13 of 36 (36%) had labral tears. These latter two were not statistically significant between the groups. A distal clavicular subchondral fracture is a common finding in patients with imaging evidence of distal clavicular osteolysis. These subchondral fractures may be responsible for the propensity of findings occurring on the clavicular side of the acromioclavicular joint. (orig.)

  7. Complications of Minimally Invasive Percutaneous Plating for Distal Tibial Fractures

    OpenAIRE

    Muzaffar, Nasir; Bhat, Rafiq; Yasin, Mohammad

    2016-01-01

    Background The management of distal tibia fractures continues to remain a source of controversy and debate. Objectives The aim of this study was to evaluate the various complications of minimally invasive percutaneous plate osteosynthesis (MIPPO) using a locking plate for closed fractures of distal tibia in a retrospective study. Patients and Methods Twenty-five patients with dista...

  8. Distal tibiofibular synostosis in a Nigerian: A case report | Owoeye ...

    African Journals Online (AJOL)

    X-ray of the bones showed an oblique fracture in the distal end of the shaft of fibula which is suggestive of post traumatic tibiofibular synostosis (TFS). Knowledge of distal TFS is important in resolving the puzzle of chronic shin pain of unknown origin and in accurate diagnosis of causes of ankle deformity and malformations.

  9. Outcome of management of distal radius fractures in ...

    African Journals Online (AJOL)

    We tried to highlight that postmenopausal distal radius fractures attributed to osteoporosis, are not given much of consideration when lot of funds and researches are being diverted to osteoporosis and related diseases. Methods: 60 elderly female patients with distal radius fracture were studied for outcome. The primary ...

  10. Distal Oblique Bundle Reinforcement for Treatment of DRUJ Instability

    NARCIS (Netherlands)

    Brink, P.R.G.; Hannemann, P.F.

    2015-01-01

    Background Chronic, dynamic bidirectional instability in the distal radioulnar joint (DRUJ) is diagnosed clinically, based on the patient's complaints and the finding of abnormal laxity in the vicinity of the distal ulna. In cases where malunion is ruled out or treated and there are no signs of

  11. Population-based epidemiology and incidence of distal femur fractures

    DEFF Research Database (Denmark)

    Elsoe, Rasmus; Ceccotti, Adriano Axel; Larsen, Peter

    2018-01-01

    The literature lacks recent epidemiological studies on the incidence, trauma mechanism and fracture classification of distal femur fractures. The aim of the present study was to provide up-to-date information concerning the incidence of distal femur fractures in a large and complete population...

  12. Radiographic study of distal radial physeal closure in thoroughbred horses

    International Nuclear Information System (INIS)

    Vulcano, L.C.; Mamprim, M.J.; Muniz, L.M.R.; Moreira, A.F.; Luna, S.P.L.

    1997-01-01

    Monthly radiography was performed to study distal radial physeal closure in ten male and ten female Throughbred horses. The height, thoracic circumference and metacarpus circumference were also measured, Distal radial physeal closure time was sooner in females than males, and took 701 +/- 37 and 748 +/- 55 days respectively

  13. Proximal and distal muscle fatigue differentially affect movement coordination

    Science.gov (United States)

    Cowley, Jeffrey C.

    2017-01-01

    Muscle fatigue can cause people to change their movement patterns and these changes could contribute to acute or overuse injuries. However, these effects depend on which muscles are fatigued. The purpose of this study was to determine the differential effects of proximal and distal upper extremity muscle fatigue on repetitive movements. Fourteen subjects completed a repetitive ratcheting task before and after a fatigue protocol on separate days. The fatigue protocol either fatigued the proximal (shoulder flexor) or distal (finger flexor) muscles. Pre/Post changes in trunk, shoulder, elbow, and wrist kinematics were compared to determine how proximal and distal fatigue affected multi-joint movement patterns and variability. Proximal fatigue caused a significant increase (7°, p fatigue caused small but significant changes in trunk angles (2°, p fatigue protocols (p fatigue at either proximal or distal joints. The identified differences between proximal and distal muscle fatigue adaptations could facilitate risk assessment of occupational tasks. PMID:28235005

  14. Clinical relevance of distal biceps insertional and footprint anatomy.

    Science.gov (United States)

    van den Bekerom, Michel P J; Kodde, Izaäk F; Aster, Asir; Bleys, Ronald L A W; Eygendaal, Denise

    2016-07-01

    The aim of this review was to present an overview, based on a literature search, of surgical anatomy for distal biceps tendon repairs, based on the current literature. A narrative review was performed using Pubmed/Medline using key words: Search terms were distal biceps, insertional, and anatomy. Last decade, the interest in both reconstruction techniques, as well as surgical anatomy of the distal biceps tendon, has increased. The insights into various aspects of distal biceps tendon anatomy (two tendons, bicipital tuberosity, lacertus fibrosis, bicipital-radial bursa, posterior interosseous nerve, and lateral antebrachial cutaneous nerve) have evolved significantly in the last years. Thorough knowledge of the anatomy is essential for the surgeon in order to understand the biomechanics of rupture and reconstruction of the distal biceps tendon and to avoid injuries of the nerves. Some tips and tricks are provided, and some pitfalls were described to avoid complications and optimize surgical outcome. IV.

  15. Toxic Elements

    DEFF Research Database (Denmark)

    Hajeb, Parvaneh; Shakibazadeh, Shahram; Sloth, Jens Jørgen

    2016-01-01

    Food is considered the main source of toxic element (arsenic, cadmium, lead, and mercury) exposure to humans, and they can cause major public health effects. In this chapter, we discuss the most important sources for toxic element in food and the foodstuffs which are significant contributors...... to human exposure. The occurrence of each element in food classes from different regions is presented. Some of the current toxicological risk assessments on toxic elements, the human health effect of each toxic element, and their contents in the food legislations are presented. An overview of analytical...... techniques and challenges for determination of toxic elements in food is also given....

  16. Ipsilateral olecranon and distal radius fracture: A case report.

    Science.gov (United States)

    Cengiz, Ömer; Polat, Gökhan; Karademir, Gökhan; Kara, Deniz; Erdil, Mehmet

    2015-01-01

    Concomitant ipsilateral olecranon and distal radius fracture are rare injuries. Their clinical presentation is unusual and investigation and management is poorly described. We present a 55-year-old woman patient who fell off sustaining a concomitant distal radius and olecranon fracture in the same extremity. On examination, there was gross swelling of the proximal and distal forearm and no neurovascular deficit. Radiographs confirmed distal radius and olecranon fracture. Patient was treated with open reduction and anatomic locking plate for olecranon and a closed reduction percuteneous K wire fixation with penning fixator for distal radius fracture. After physical therapy program, functional results were good and DASH score was 60. Several different combinations of fracture with dislocation have been described, but, to our knowledge, concurrent ipsilateral olecranon and distal radius fracture has not been reported before. In the literature review there are two similar cases in the English literature. Ipsilateral olecranon and distal radius fracture is a very rare injury due to different trauma mechanisms. However we should keep in mind that there may be adjacent joints and structures for concomitant injuries. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  17. A comparison between robotic-assisted laparoscopic distal pancreatectomy versus laparoscopic distal pancreatectomy.

    Science.gov (United States)

    Goh, Brian K P; Chan, Chung Yip; Soh, Hui-Ling; Lee, Ser Yee; Cheow, Peng-Chung; Chow, Pierce K H; Ooi, London L P J; Chung, Alexander Y F

    2017-03-01

    This study aims to compare the early perioperative outcomes of robotic-assisted laparoscopic distal pancreatectomy (RDP) versus laparoscopic distal pancreatectomy (LDP). The clinicopathologic features of 45 consecutive patients who underwent minimally-invasive distal pancreatectomy from 2006 to 2015 were retrospectively reviewed. Thirty-nine patients who met our study criteria were included. Eight patients underwent RDP and 31 had LDP. There were 10 (25.6%) open conversions. Six (15.4%) patients had major (> grade 2) morbidities and there was no in-hospital mortality. There were 14 (35.9%) grade A and 9 (23.1%) grade B pancreatic fistulas. Comparison between RDP and LDP demonstrated no significant difference between the patients' baseline characteristics except there was increased frequency of spleen-preserving pancreatectomies (3 (37.5%) vs 25 (80.6%), P=0.016) and splenic-vessel preservation (5 (62.5%) vs 4 (12.9%), P=0.003) in RDP. Comparison between outcomes demonstrated that RDP was associated with a longer median operation time (452.5 (range, 300-685) vs 245 min (range, 85-430), P=0.001) and increased frequency of the procedure completed purely laparoscopically (8 (100%) vs 18 (58.1%), P=0.025). RDP can be safely adopted and is equivalent to LDP in most perioperative outcomes. It is also associated with a decreased frequency of the need for hand-assistance laparoscopic surgery or open conversion but needed a longer operation time. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  18. Tratamento cirúrgico da tendinite distal da patela Surgical treatment of the distal patellar tendinitis

    Directory of Open Access Journals (Sweden)

    Marco Martins Amatuzzi

    2005-01-01

    Full Text Available A tendinite distal da patela é uma doença que acomete principalmente jovens esportistas e caracteriza-se por dor referida na extremidade distal da patela junto à inserção do ligamento patelar. O tratamento inicial preconizado é sempre conservador com fisioterapia. A grande maioria tem boa resposta a este tipo de conduta, mas em alguns raros casos os sintomas não regridem exigindo uma mudança de conduta. Para este grupo usamos o tratamento cirúrgico com técnica derivada de Trillat que se baseia na utilização de um enxerto de parte do tendão do músculo Grácil implantado dentro do ligamento patelar, inserido intra-ósseo na patela e fixado na tuberosidade anterior da tíbia. Foram operados seis pacientes, sendo que em dois casos a operação foi bilateral, totalizando oito joelhos. O seguimento mínimo foi de três anos, com avaliação final dentro do índice considerado como EXCELENTE, conforme a cotação ARPÉGE, para todos os joelhos.Distal patellar tendinitis is a young athlete's disease characterized by pain at the distal patellar pole, near the patellar ligament insertion. Early treatment recommended is generally conservative, with physical therapy. The great majority of patients present favorable responses to this approach, but, in some cases, the remission of symptoms does not occur, requiring a different approach. For this group, surgical treatment with a technique derived from that of Trillat was used, which is based on the use of a graft removed from a portion of gracillis muscle tendon into patellar ligament, intraosseously inserted in the patella and fixed at the tibial anterior tuberosity. Six patients were operated, bilaterally in two cases, totaling eight knees. The minimum follow-up time was three years, with all knees presenting an EXCELLENT score, according to ARPÉGE evaluation.

  19. A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements

    Directory of Open Access Journals (Sweden)

    Hicks Chindo

    2010-01-01

    Full Text Available Abstract Background Polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of such events in multi-genic disorders is yet to be well understood. We have developed a new tool (SpliceScan II for predicting the effects of genetic variants on splicing and cis-regulatory elements. The novel Bayesian non-canonical 5'GC splice site (SS sensor used in our tool allows inference on non-canonical exons. Results Our tool performed favorably when compared with the existing methods in the context of genes linked to the Autism Spectrum Disorder (ASD. SpliceScan II was able to predict more aberrant splicing isoforms triggered by the mutations, as documented in DBASS5 and DBASS3 aberrant splicing databases, than other existing methods. Detrimental effects behind some of the polymorphic variations previously associated with Alzheimer's and breast cancer could be explained by changes in predicted splicing patterns. Conclusions We have developed SpliceScan II, an effective and sensitive tool for predicting the detrimental effects of genomic variants on splicing leading to Mendelian and complex hereditary disorders. The method could potentially be used to screen resequenced patient DNA to identify de novo mutations and polymorphic variants that could contribute to a genetic disorder.

  20. Characterization of a Suppressive Cis-acting Element in the Epstein–Barr Virus LMP1 Promoter

    Directory of Open Access Journals (Sweden)

    Masahiro Yoshida

    2017-11-01

    Full Text Available Latent membrane protein 1 (LMP1 is a major oncogene encoded by Epstein–Barr virus (EBV and is essential for immortalization of B cells by the virus. Previous studies suggested that several transcription factors, such as PU.1, RBP-Jκ, NFκB, EBF1, AP-2 and STAT, are involved in LMP1 induction; however, the means by which the oncogene is negatively regulated remains unclear. Here, we introduced short mutations into the proximal LMP1 promoter that includes recognition sites for the E-box and Ikaros transcription factors in the context of EBV-bacterial artificial chromosome. Upon infection, the mutant exhibited increased LMP1 expression and EBV-mediated immortalization of B cells. However, single mutations of either the E-box or Ikaros sites had limited effects on LMP1 expression and transformation. Our results suggest that this region contains a suppressive cis-regulatory element, but other transcriptional repressors (apart from the E-box and Ikaros transcription factors may remain to be discovered.

  1. Quantitative analysis of polycomb response elements (PREs at identical genomic locations distinguishes contributions of PRE sequence and genomic environment

    Directory of Open Access Journals (Sweden)

    Okulski Helena

    2011-03-01

    Full Text Available Abstract Background Polycomb/Trithorax response elements (PREs are cis-regulatory elements essential for the regulation of several hundred developmentally important genes. However, the precise sequence requirements for PRE function are not fully understood, and it is also unclear whether these elements all function in a similar manner. Drosophila PRE reporter assays typically rely on random integration by P-element insertion, but PREs are extremely sensitive to genomic position. Results We adapted the ΦC31 site-specific integration tool to enable systematic quantitative comparison of PREs and sequence variants at identical genomic locations. In this adaptation, a miniwhite (mw reporter in combination with eye-pigment analysis gives a quantitative readout of PRE function. We compared the Hox PRE Frontabdominal-7 (Fab-7 with a PRE from the vestigial (vg gene at four landing sites. The analysis revealed that the Fab-7 and vg PREs have fundamentally different properties, both in terms of their interaction with the genomic environment at each site and their inherent silencing abilities. Furthermore, we used the ΦC31 tool to examine the effect of deletions and mutations in the vg PRE, identifying a 106 bp region containing a previously predicted motif (GTGT that is essential for silencing. Conclusions This analysis showed that different PREs have quantifiably different properties, and that changes in as few as four base pairs have profound effects on PRE function, thus illustrating the power and sensitivity of ΦC31 site-specific integration as a tool for the rapid and quantitative dissection of elements of PRE design.

  2. Femoral derotation osteotomy in spastic diplegia. Proximal or distal?

    Science.gov (United States)

    Pirpiris, M; Trivett, A; Baker, R; Rodda, J; Nattrass, G R; Graham, H K

    2003-03-01

    We describe the results of a prospective study of 28 children with spastic diplegia and in-toed gait, who had bilateral femoral derotation osteotomies undertaken at either the proximal intertrochanteric or the distal supracondylar level of the femur. Preoperative clinical evaluation and three-dimensional movement analysis determined any additional soft-tissue surgery. Distal osteotomy was faster with significantly lower blood loss than proximal osteotomy. The children in the distal group achieved independent walking earlier than those in the proximal group (6.9 +/- 1.3 v 10.7 +/- 1.7 weeks; p spastic diplegia.

  3. Intra-Articular Osteotomy for Distal Humerus Malunion

    Directory of Open Access Journals (Sweden)

    René K. Marti

    2009-01-01

    Full Text Available Intra-articular osteotomy is considered in the rare case of malunion after a fracture of the distal humerus to restore humeral alignment and gain a functional arc of elbow motion. Traumatic and iatrogenic disruption of the limited blood flow to the distal end of the humerus resulting in avascular necrosis of capitellum or trochlea is a major pitfall of the this technically challenging procedure. Two cases are presented which illustrate the potential problems of intra-articular osteotomy for malunion of the distal humerus.

  4. Adenoma of the distal common bile duct -a case report-

    International Nuclear Information System (INIS)

    Do, Young Soo; Lee, Hyun Gon; Han, Ho Seong; Ko, Gyung Hyuck; Kim, Jae Hyoung; Kim, Hyung Jin; Chung, Sung Hoon

    1991-01-01

    On rare occasions, Obstructive Jaundice may be caused by a benign tumor of the biliary tract. We describe a patient in whom the diagnosis of an adenoma of the distal common bile duct (CBD) was established. The CT showed a soft tissue density mass in the distal CBD and diffuse dilatation of the intrahepatic duct, gall the bladder, and CBD. Endoscopic retrograde cholangiopnacreatography showed an irregularly marginated polypoid mass in the distal CBD. The clinical, radiological, and histological features of this neoplasm are reviewed. The clinical, radiological and histological features of this neoplasm are reviewed

  5. Distal tibial interosseous osteochondroma with impending fracture of fibula ? a case report and review of literature

    OpenAIRE

    Wani, Iftikhar H; Sharma, Siddhartha; Malik, Farid H; Singh, Manjeet; Shiekh, Irfan; Salaria, Abdul Q

    2009-01-01

    Osteochondromas arising from the interosseous border of the distal tibia and involving distal fibula are uncommon. We present a 16 year old young boy with an impending fracture, erosion and weakness of the distal fibula, secondary to an osteochondroma arising from the distal tibia. Early excision of this deforming distal tibial osteochondroma avoided the future risk of pathological fracture of the distal fibula, ankle deformities and syndesmotic complications.

  6. Potassium transport across guinea pig distal colon

    International Nuclear Information System (INIS)

    Rechkemmer, G.; Halm, D.R.; Frizzell, R.A.

    1986-01-01

    Active absorption and secretion of K was studied by measuring bidirectional 42 K fluxes across short-circuited guinea pig distal colon. Tissues were pretreated with mucosal (m) and serosal (s) indomethacin (1 μM) and amiloride (0.1 mM, m) to suppress spontaneous, electrogenic Cl secretion and Na absorption. Under these conditions, the short-circuit current (I/sub sc/) was 0.4 μeq/cm 2 h while electroneutral K absorption was 2.8 μeq/cm 2 h. Epinephrine (5 μM, s) stimulated electrogenic K secretion, reducing net K absorption to 1.3 μeq/cm 2 h. Bumetanide (0.1 mM, s) abolished this K secretion and restored K absorption to control values, suggesting mechanistic similarities between K and Cl secretion. K absorption was inhibited 40% by the gastric H/K ATPase inhibitor, omeprazole (0.1 mM, m), and was abolished by ouabain (0.1 mM, m). Neutral K absorption does not appear to be mediated by an apical membrane Na/K pump since: the effect of mucosal ouabain on K absorption does not require the presence of mucosal or serosal Na, unidirectional Na fluxes are not influenced by mucosal ouabain, and K absorption is not affected when Na absorption is abolished by amiloride. Net K transport is determined by the balance between electroneutral K absorption and electrogenic K secretion. The ouabain sensitivity of K absorption suggests that colonic H/K ATPase differs from its gastric counterpart

  7. Histology of the distal dural ring.

    Science.gov (United States)

    Graffeo, Christopher S; Perry, Avital; Copeland, William R; Raghunathan, Aditya; Link, Michael J

    2017-09-01

    The distal dural ring (DDR) is a conserved intracranial anatomic structure marking the boundary point at which the internal carotid artery (ICA) exits the cavernous sinus (CS) and enters the subarachnoid space. Although the CS has been well described in a range of anatomic studies, to our knowledge no prior study has analyzed the histologic relationship between the ICA and DDR. Correspondingly, our objective was to assess the relationship of the DDR to the ICA and determine whether the DDR can be dissected from the ICA and thus divided, or can only be circumferentially trimmed around the artery. The authors examined ten fresh-frozen, adult cadaveric specimens. A standard frontotemporal craniotomy, orbito-optic osteotomy, and extradural anterior clinoidectomy was performed bilaterally. The cavernous ICA, DDR, and supraclinoid ICA were harvested as an en bloc specimen. Specimens formalin-fixed and paraffin-embedded prior to routine histochemical staining with hematoxylin and eosin and Masson trichrome. In all specimens, marked microscopic investment of the DDR throughout the ICA adventitia was noted. Dural collagen fibers extensively permeated the arterial layers superficial to the muscularis propria, with no evidence of a clear separation between the DDR and arterial adventitia. Histologic analysis suggests that the ICA and DDR are highly interrelated, continuous structures, and therefore attempted intraoperative dissection between these structures may carry an elevated risk of injury to the ICA. We correspondingly recommend careful circumferential trimming of the DDR in lieu of direct dissection in cases requiring mobilization of the clinoidal ICA. Clin. Anat. 30:742-746, 2017. © 2017Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  8. Functional anatomy of the immunoglobulin heavy chain 3΄ super-enhancer needs not only core enhancer elements but also their unique DNA context.

    Science.gov (United States)

    Le Noir, Sandrine; Boyer, François; Lecardeur, Sandrine; Brousse, Mylène; Oruc, Zeliha; Cook-Moreau, Jeanne; Denizot, Yves; Cogné, Michel

    2017-06-02

    Cis-regulatory elements feature clustered sites for transcription factors, defining core enhancers and have inter-species homology. The mouse IgH 3΄ regulatory region (3'RR), a major B-cell super-enhancer, consists of four of such core enhancers, scattered throughout more than 25 kb of packaging 'junk DNA', the sequence of which is not conserved but follows a unique palindromic architecture which is conserved in all mammalian species. The 3'RR promotes long-range interactions and potential IgH loops with upstream promoters, controlling class switch recombination (CSR) and somatic hypermutation (SHM). It was thus of interest to determine whether this functional architecture also involves the specific functional structure of the super-enhancer itself, potentially promoted by its symmetric DNA shell. Since many transgenic 3'RR models simply linked core enhancers without this shell, it was also important to compare such a 'core 3'RR' (c3'RR) with the intact full-length super-enhancer in an actual endogenous IgH context. Packaging DNA between 3'RR core enhancers proved in fact to be necessary for optimal SHM, CSR and IgH locus expression in plasma cells. This reveals that packaging DNA can matter in the functional anatomy of a super-enhancer, and that precise evaluation of such elements requires full consideration of their global architecture. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

  9. Results of preputial reconstruction in 77 boys with distal hypospadias

    NARCIS (Netherlands)

    Klijn, A. J.; Dik, P.; de Jong, T. P.

    2001-01-01

    There is growing interest in preputial reconstruction combined with hypospadias repair. We retrospectively analyzed its results for future developments and patient information. We evaluated 77 boys who underwent distal hypospadias repair combined with preputial reconstruction to determine

  10. Surgical treatment of distal biceps tendon rupture: a case report

    Directory of Open Access Journals (Sweden)

    Cristina N. Cozma

    2017-11-01

    Full Text Available Objectives. Distal biceps tendon rupture affects the functional upperextremity movement, impairing supination and flexion strength. According to age, profession and additional risks treatment might be nonoperative or surgical. Methods. We describe the case of a 43 years old male patient who sustained an injury to his right distal biceps and was diagnosed with acute right distal biceps rupture. Surgical treatment was decided and biceps tendon was reinserted to the radius tuberosity using a combination of a cortical button fixation associated with an interference screw. Results. Postoperative functional result was favorable with no complications and with no movement limitation after one month. Conclusions. When possible, distal biceps tendon repair should be realized surgically because this permits restoring of the muscle strength to near normal levels with no loss of motion. Nerve complications are common; therefore the surgery should be realized by experienced upper extremity surgeons.

  11. Minimally invasive percutaneous plate fixation of distal tibia fractures.

    LENUS (Irish Health Repository)

    Bahari, Syah

    2007-10-01

    We report a series of 42 patients reviewed at a mean of 19.6 months after treatment of distal tibial and pilon fractures using the AO distal tibia locking plate with a minimally invasive percutaneous plate osteosynthesis (MIPPO) technique. Mean time to union was 22.4 weeks. All fractures united with acceptable alignment and angulation. Two cases of superficial infection were noted, with one case of deep infection. Mean SF36 score was 85 and mean AOFAS score was 90 at a mean of 19 months follow-up. We report satisfactory outcomes with the use of the AO distal tibia locking plate in treatment of unstable distal tibial fractures. Eighty-nine percent of the patients felt that they were back to their pre injury status and 95% back to their previous employment.

  12. Distal vertebral artery reconstruction when managing vertebrobasilar insufficiency

    OpenAIRE

    D. M. Galaktionov; A. V. Dubovoy; K. S. Ovsyannikov

    2017-01-01

    This article presents a literature review devoted to the reconstruction of the distal vertebral artery and a clinical case of successful surgical treatment of a patient suffering from vertebrobasilar insufficiency caused by occlusion of the vertebral artery in a proximal segment. The external carotid artery-distal vertebral artery bypass was performed by using the radial artery.Received 27 February 2017. Revised 25 July 2017. Accepted 3 August 2017.Funding: The study did not have sponsorship....

  13. Update on the roles of distal airways in COPD

    Directory of Open Access Journals (Sweden)

    N. Roche

    2011-03-01

    Full Text Available This review is the summary of a workshop on the role of distal airways in chronic obstructive pulmonary disease (COPD, which took place in 2009 in Vence, France. The evidence showing inflammation and remodelling in distal airways and the possible involvement of these in the pathobiology, physiology, clinical manifestations and natural history of COPD were examined. The usefulness and limitations of physiological tests and imaging techniques for assessing distal airways abnormalities were evaluated. Ex vivo studies in isolated lungs and invasive measurements of airway resistance in living individuals have revealed that distal airways represent the main site of airflow limitation in COPD. Structural changes in small conducting airways, including increased wall thickness and obstruction by muco-inflammatory exudates, and emphysema (resulting in premature airway closure, were important determinants of airflow limitation. Infiltration of small conducting airways by phagocytes (macrophages and neutrophils, dendritic cells and T and B lymphocytes increased with airflow limitation. Distal airways abnormalities were associated with patient-related outcomes (e.g. dyspnoea and reduced health-related quality of life and with the natural history of the disease, as reflected by lung function decline and mortality. These data provide a clear rationale for targeting distal airways in COPD.

  14. Aquaporin-4 expression in distal myopathy with rimmed vacuoles.

    Science.gov (United States)

    Hoshi, Akihiko; Yamamoto, Teiji; Kikuchi, Saeko; Soeda, Tomoko; Shimizu, Keiko; Ugawa, Yoshikazu

    2012-04-27

    Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. Here, we studied the expression of aquaporin-4 in muscle fibers of a patient with distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy. Immunohistochemical and immunofluorescence analyses showed that sarcolemmal aquaporin-4 immunoreactivity was reduced in many muscle fibers of the patient. However, the intensity of aquaporin-4 staining was markedly increased at rimmed vacuoles or its surrounding areas and in some muscle fibers. The fast-twitch type 2 fibers were predominantly involved with the strong aquaporin-4-positive rimmed vacuoles and TAR-DNA-binding protein-43 aggregations. Rimmed vacuoles with strong aquaporin-4 expression seen in the distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy patient were not found in control muscles without evidence of neuromuscular disorders and the other disease-controls. Aquaporin-4 might be crucial in determining the survival or degeneration of fast-twitch type 2 fibers in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy.

  15. Distal biceps brachii tendon rupture resulting in acute compartment syndrome.

    Science.gov (United States)

    Grandizio, Louis C; Suk, Michael; Feltham, Glen T

    2013-11-01

    Distal biceps brachii tendon rupture is an uncommon injury. Compartment syndrome of the upper arm is rarely described in the literature. The diagnosis of upper arm compartment syndrome requires a high index of suspicion, and emergent surgical treatment with fasciotomy in the acute setting is necessary to avoid devastating neurovascular complications. This article reports a case of acute compartment syndrome of the anterior compartment of the upper arm after a complete rupture of the distal biceps brachii tendon. A healthy 45-year-old man presented with increasing arm pain; paresthesia in the lateral antebrachial cutaneous nerve distribution; and a tense, swollen anterior compartment of his upper arm. Side port catheter absolute pressure measurement was 83 mm Hg with a diastolic blood pressure of 92 mm Hg. The patient underwent an emergent fasciotomy and was found to have a complete rupture of his distal biceps brachii tendon. He subsequently underwent distal biceps tendon repair and delayed primary closure of his incision. Postoperatively, his paresthesia improved and he has no neurological deficit. There is a paucity of case reports describing compartment syndrome after rupture of either the proximal or distal end of the biceps brachii tendon, and none of the reports describe compartment syndrome of the upper arm after rupture of the distal biceps tendon. This article highlights an unusual complication of an uncommon injury and reviews diagnostic and treatment principles for the management of acute compartment syndrome of the upper arm. Copyright 2013, SLACK Incorporated.

  16. Endovascular treatment for ruptured distal anterior inferior cerebellar artery aneurysm.

    Science.gov (United States)

    Oh, Jae-Sang; Yoon, Seok-Mann; Shim, Jai-Joon; Bae, Hack-Gun; Yoon, Il-Gyu

    2014-03-01

    A 42-year-old woman presented with Hunt and Hess grade (HHG) III subarachnoid hemorrhage (SAH) caused by a ruptured left distal anterior inferior cerebellar artery (AICA) aneurysm. Computed tomography showed a thin SAH on the cerebellopontine angle cistern, and small vermian intracerebral hemorrhage and intraventricular hemorrhage in the fourth ventricle. Digital subtraction angiography revealed the aneurysm on the postmeatal segment of left distal AICA, a branching point of rostrolateral and caudomedial branch of the left distal AICA. Despite thin caliber, tortuous running course and far distal location, the AICA aneurysm was obliterated successfully with endovascular coils without compromising AICA flow. However, the patient developed left side sensorineural hearing loss postoperatively, in spite of definite patency of distal AICA on the final angiogram. She was discharged home without neurologic sequela except hearing loss and tinnitus. Endovascular treatment of distal AICA aneurysm, beyond the meatal loop, is feasible while preserving the AICA flow. However, because the cochlear hair cell is vulnerable to ischemia, unilateral hearing loss can occur, possibly caused by the temporary occlusion of AICA flow by microcatheter during endovascular treatment.

  17. A biophysical model for identifying splicing regulatory elements and their interactions.

    Directory of Open Access Journals (Sweden)

    Ji Wen

    Full Text Available Alternative splicing (AS of precursor mRNA (pre-mRNA is a crucial step in the expression of most eukaryotic genes. Splicing factors (SFs play an important role in AS regulation by binding to the cis-regulatory elements on the pre-mRNA. Although many splicing factors (SFs and their binding sites have been identified, their combinatorial regulatory effects remain to be elucidated. In this paper, we derive a biophysical model for AS regulation that integrates combinatorial signals of cis-acting splicing regulatory elements (SREs and their interactions. We also develop a systematic framework for model inference. Applying the biophysical model to a human RNA-Seq data set, we demonstrate that our model can explain 49.1%-66.5% variance of the data, which is comparable to the best result achieved by biophysical models for transcription. In total, we identified 119 SRE pairs between different regions of cassette exons that may regulate exon or intron definition in splicing, and 77 SRE pairs from the same region that may arise from a long motif or two different SREs bound by different SFs. Particularly, putative binding sites of polypyrimidine tract-binding protein (PTB, heterogeneous nuclear ribonucleoprotein (hnRNP F/H and E/K are identified as interacting SRE pairs, and have been shown to be consistent with the interaction models proposed in previous experimental results. These results show that our biophysical model and inference method provide a means of quantitative modeling of splicing regulation and is a useful tool for identifying SREs and their interactions. The software package for model inference is available under an open source license.

  18. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

    Science.gov (United States)

    Volkmann, Bethany A; Zinkevich, Natalya S; Mustonen, Aki; Schilter, Kala F; Bosenko, Dmitry V; Reis, Linda M; Broeckel, Ulrich; Link, Brian A; Semina, Elena V

    2011-03-01

    Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease. Conserved noncoding elements surrounding PITX2/pitx2 were identified and examined through transgenic analysis in zebrafish; expression pattern was studied by in situ hybridization. Patient samples were screened for deletion/duplication of the PITX2 upstream region using arrays and probes. Zebrafish pitx2 demonstrates conserved expression during ocular and craniofacial development. Thirteen conserved noncoding sequences positioned within a gene desert as far as 1.1 Mb upstream of the human PITX2 gene were identified; 11 have enhancer activities consistent with pitx2 expression. Ten elements mediated expression in the developing brain, four regions were active during eye formation, and two sequences were associated with craniofacial expression. One region, CE4, located approximately 111 kb upstream of PITX2, directed a complex pattern including expression in the developing eye and craniofacial region, the classic sites affected in ARS. Screening of ARS patients identified an approximately 7600-kb deletion that began 106 to 108 kb upstream of the PITX2 gene, leaving PITX2 intact while removing regulatory elements CE4 to CE13. These data suggest the presence of a complex distant regulatory matrix within the gene desert located upstream of PITX2 with an essential role in its activity and provides a possible mechanism for the previous reports of ARS in patients with balanced translocations involving the 4q25 region upstream of PITX2 and the current patient with an upstream deletion.

  19. Genome-wide prediction of transcriptional regulatory elements of human promoters using gene expression and promoter analysis data

    Directory of Open Access Journals (Sweden)

    Kim Seon-Young

    2006-07-01

    Full Text Available Abstract Background A complete understanding of the regulatory mechanisms of gene expression is the next important issue of genomics. Many bioinformaticians have developed methods and algorithms for predicting transcriptional regulatory mechanisms from sequence, gene expression, and binding data. However, most of these studies involved the use of yeast which has much simpler regulatory networks than human and has many genome wide binding data and gene expression data under diverse conditions. Studies of genome wide transcriptional networks of human genomes currently lag behind those of yeast. Results We report herein a new method that combines gene expression data analysis with promoter analysis to infer transcriptional regulatory elements of human genes. The Z scores from the application of gene set analysis with gene sets of transcription factor binding sites (TFBSs were successfully used to represent the activity of TFBSs in a given microarray data set. A significant correlation between the Z scores of gene sets of TFBSs and individual genes across multiple conditions permitted successful identification of many known human transcriptional regulatory elements of genes as well as the prediction of numerous putative TFBSs of many genes which will constitute a good starting point for further experiments. Using Z scores of gene sets of TFBSs produced better predictions than the use of mRNA levels of a transcription factor itself, suggesting that the Z scores of gene sets of TFBSs better represent diverse mechanisms for changing the activity of transcription factors in the cell. In addition, cis-regulatory modules, combinations of co-acting TFBSs, were readily identified by our analysis. Conclusion By a strategic combination of gene set level analysis of gene expression data sets and promoter analysis, we were able to identify and predict many transcriptional regulatory elements of human genes. We conclude that this approach will aid in decoding

  20. REDfly: a Regulatory Element Database for Drosophila.

    Science.gov (United States)

    Gallo, Steven M; Li, Long; Hu, Zihua; Halfon, Marc S

    2006-02-01

    Bioinformatics studies of transcriptional regulation in the metazoa are significantly hindered by the absence of readily available data on large numbers of transcriptional cis-regulatory modules (CRMs). Even the richly annotated Drosophila melanogaster genome lacks extensive CRM information. We therefore present here a database of Drosophila CRMs curated from the literature complete with both DNA sequence and a searchable description of the gene expression pattern regulated by each CRM. This resource should greatly facilitate the development of computational approaches to CRM discovery as well as bioinformatics analyses of regulatory sequence properties and evolution.

  1. Endoprosthetic Reconstruction of distal Humerus following Resection of distal Humeral Giant Cell Tumours in Six Patients in Rural India

    Directory of Open Access Journals (Sweden)

    Balasubramanian N

    2017-07-01

    Full Text Available Giant cell tumour is a commonly occurring benign bone tumour in the Indian population. The common sites of involvement in descending order of frequency are distal femur, proximal tibia, distal radius and proximal humerus. The less commonly occurring sites are distal humerus, pelvis and proximal femur. We present six cases of giant cell tumour involving the distal humerus in rural India. After obtaining a tissue diagnosis by Trucut biopsy and classifying using Enneking's classification, we proceeded to perform wide resection followed by endoprosthetic reconstruction using custom mega prosthesis. We present here six patients (M: F: 2: 4 who were managed by us between 2008-2014. They presented to us with pain around the elbow and restriction in range of movements. They were each noted radiographically to have a lytic lesion involving the distal humerus with the likely diagnosis of giant cell tumour. Closed biopsy was done in all of them to obtain a definitive diagnosis. All patients underwent wide resection and reconstruction using distal humerus custom prosthesis. All patients were followed up at 6, 12, 18 and 24 weeks and thereafter six monthly until the last review. They were assessed using the DASH scoring system. All patients were well with no evidence of recurrence with good to fair functional outcome. We conclude that careful pre-operative planning with meticulous soft tissue dissection and good implant metallurgy and design, these tumours can be treated with good long term functional results.

  2. Biomechanical analysis of distal biceps tendon repair methods.

    Science.gov (United States)

    Henry, Jon; Feinblatt, Jeff; Kaeding, Christopher C; Latshaw, James; Litsky, Alan; Sibel, Roman; Stephens, Julie A; Jones, Grant L

    2007-11-01

    The 1-incision and 2-incision techniques are commonly used methods to repair a distal biceps rupture, and they differ in the location of reinsertion of tendon into bone. The native distal biceps brachii tendon inserts on the posterior-ulnar aspect of the bicipital tuberosity, which functions as a cam, increasing the tendon's moment arm during its principal action of forearm supination. Repair of the distal biceps tendon to the anterior aspect of the tuberosity compromises forearm supination due to absence of the bicipital tuberosity's cam effect. Controlled laboratory study. Eleven matched pairs of fresh-frozen cadaveric upper extremities were prepared for repair of the distal biceps tendon using either anterior or posterior reattachment with transosseous suture fixation. Specimens were tested on a materials testing machine with intact distal biceps insertion and after repair. A load cell at the distal radial-ulnar joint measured resultant elbow flexion and forearm supination torque produced by 100-N force applied to the proximal aspect of the tendon. Although there was a trend (P= .104) toward loss of supination torque with the anterior reconstruction method, no significant differences in torque (0.80 vs 0.89 N.m) or flexion force (11.87 vs 12.07 N) were found between the anterior and posterior reconstruction techniques. There is no statistically significant difference in flexion force or supination torque between the anterior and posterior reconstruction techniques. This study supports existing limited clinical data suggesting no functional differences exist between 2 common repair methods. Further biomechanical and clinical investigations directly comparing the results of distal biceps tendon repairs made to the anterior aspect versus the posterior aspect of the tuberosity are necessary to definitely determine if differences exist in resultant elbow flexion and forearm supination functions.

  3. The effect of select pulp cavity conditions on stress field development in distal abutments in two types of fixed dental prostheses.

    Science.gov (United States)

    Manda, Mirianthi; Galanis, Christos; Venetsanos, Dimitrios; Provatidis, Christofer; Koidis, Petros

    2011-01-01

    Insufficient coronal tooth structure may require restoration of endodontically treated (ET) teeth with cast posts and cores (CPCs). The prognosis for these teeth is a matter of scientific debate, especially if they serve as distal abutments in cantilever fixed dental prostheses (FDPs). The purpose of this study was to study stress field development in distal abutments in two types of FDPs with different pulp cavity conditions. The methodology involved the development of four digital models in which the right mandibular premolars were splinted via an FDP with: (1) no cantilever and a vital distal abutment, (2) no cantilever and an ET CPC distal abutment, (3) a single-unit cantilever and a vital distal abutment, and (4) a single-unit cantilever with an ET CPC distal abutment. The models were analyzed using a three-dimensional finite element program, and von Mises stress values and patterns were evaluated. The results revealed that although the stress distribution patterns in dentin were dissimilar, the von Mises stress values registered for the vital and ET CPC distal abutment were not considerably different. However, higher stress values were detected in the dentin area surrounding the post-gutta-percha interface after CPC placement. The addition of the cantilever resulted in a considerable increase in stress on the dental tissue structures. CPCs appear to create a risk of potential fracture that is initiated in the dentin at the apex of the post. The type of restoration appears to have a much more serious impact on the stress pattern developed in the distal abutment, and the addition of a cantilever appears to biomechanically compromise both biologic and restorative structures.

  4. Vertebral deformities and fractures are associated with MRI and pQCT measures obtained at the distal tibia and radius of postmenopausal women

    Science.gov (United States)

    Rajapakse, C. S.; Phillips, E. A.; Sun, W.; Wald, M. J.; Magland, J. F.; Snyder, P. J.; Wehrli, F. W.

    2016-01-01

    Summary We investigated the association of postmenopausal vertebral deformities and fractures with bone parameters derived from distal extremities using MRI and pQCT. Distal extremity measures showed variable degrees of association with vertebral deformities and fractures, highlighting the systemic nature of postmenopausal bone loss. Introduction Prevalent vertebral deformities and fractures are known to predict incident further fractures. However, the association of distal extremity measures and vertebral deformities in postmenopausal women has not been fully established. Methods This study involved 98 postmenopausal women (age range 60–88 years, mean 70 years) with DXA BMD T-scores at either the hip or spine in the range of −1.5 to −3.5. Wedge, biconcavity, and crush deformities were computed on the basis of spine MRI. Vertebral fractures were assessed using Eastell's criterion. Distal tibia and radius stiffness was computed using MRI-based finite element analysis. BMD at the distal extremities were obtained using pQCT. Results Several distal extremity MRI and pQCT measures showed negative association with vertebral deformity on the basis of single parameter correlation (r up to 0.67) and two-parameter regression (r up to 0.76) models involving MRI stiffness and pQCT BMD. Subjects who had at least one prevalent vertebral fracture showed decreased MRI stiffness (up to 17.9 %) and pQCT density (up to 34.2 %) at the distal extremities compared to the non-fracture group. DXA lumbar spine BMD T-score was not associated with vertebral deformities. Conclusions The association between vertebral deformities and distal extremity measures supports the notion of postmenopausal osteoporosis as a systemic phenomenon. PMID:24221453

  5. Sedimentary architecture of the distal lower freshwater molasse and its relation to the diagenesis and petrophysical properties demonstrated by the example of the Langenthal boreholes

    International Nuclear Information System (INIS)

    Keller, B.; Blaesi, H.R.; Platt, N.H.; Mozley, P.S.; Matter, A.

    1990-08-01

    Sedimentary study at outcrop and quarry exposures of distal alluvial deposits in the upper part of the Lower Freshwater Molasse ('Aquitan') has revealed four principal facies. The same facies may also be recognised in boreholes (Langenthal, Weiach, Schafisheim) penetrating the continental succession. These facies make up distinct sediment bodies or 'architectural elements'. Each architectural element may be assigned to a particular depositional setting: Meander Belt RG (MB); Crevasse Splays and Crevasse Channels DFR (CS), Levees and Distal Splays UW (LS), Overbank, Paleosols and Swamps UPS (OPS) and Lacustrine LAK (LAC). Meander belt sandstones in the distal Lower Freshwater Molasse reflect the occurrence of two types of mixed load channels. Architectural modelling permits consideration of the distal Lower Freshwater Molasse in terms of a sandy framework, comprising the channel sandstone bodies, each in contact with their associated crevasse splay and crevasse channel sandstones, and a muddy-silty matrix consisting of interbedded floodplain sediments. Comparison with the morphologies of modern alluvial systems suggests that channel sandstone bodies in the Lower Freshwater Molasse are likely to show greater longitudinal continuity, greater width and a higher degree of interconnectedness in an upstream direction. Conversely, primary depositional porosities and permeabilities of the sandstone units are likely to decrease downstream towards more distal areas in the east and at the northern margin of the basin, although regional differences in tectonic style and diagenesis will also exert a major control on the petrophysical and hydrological properties in any given area. (author) figs., tabs., 54 refs

  6. A New Orthodontic Appliance with a Mini Screw for Upper Molar Distalization.

    Science.gov (United States)

    Ozkalayci, Nurhat; Yetmez, Mehmet

    2016-01-01

    The aim of this study is to present a new upper molar distalization appliance called Cise distalizer designed as intraoral device supported with orthodontic mini screw for upper permanent molar distalization. The new appliance consists of eight main components. In order to understand the optimum force level, the appliance under static loading is tested by using strain gage measurement techniques. Results show that one of the open coils produces approximately 300 gr distalization force. Cise distalizer can provide totally 600 gr distalization force. This range of force level is enough for distalization of upper first and second molar teeth.

  7. A New Orthodontic Appliance with a Mini Screw for Upper Molar Distalization

    Directory of Open Access Journals (Sweden)

    Nurhat Ozkalayci

    2016-01-01

    Full Text Available The aim of this study is to present a new upper molar distalization appliance called Cise distalizer designed as intraoral device supported with orthodontic mini screw for upper permanent molar distalization. The new appliance consists of eight main components. In order to understand the optimum force level, the appliance under static loading is tested by using strain gage measurement techniques. Results show that one of the open coils produces approximately 300 gr distalization force. Cise distalizer can provide totally 600 gr distalization force. This range of force level is enough for distalization of upper first and second molar teeth.

  8. Fractures of the distal radius in children: A retrospective evaluation

    Directory of Open Access Journals (Sweden)

    Selma Yazıcı

    2012-06-01

    Full Text Available Objectives: This study designed to evaluate the resultsof treatment, closed reduction and percutaneous wires, ofthe distal radius fractures in children.Materials and methods: A retrospective analysis wascarried out in children aged between 5-15 years who presentedwith a displaced fracture of the distal radius to ourhospital. They were initially treated with closed reductionand cast immobilization. If the fractures redisplaced treatedby percutaneous Kirschner (K- wire with scope undera general anaesthesia.Results: Totally 104 patients, who have distal radius fractureswere treated by closed reduction and immobilizationin a plaster cast. 13 patient who have distal radiusfractures were treated by closed reduction under generalanaesthesia and fixed by percutaneous Kirschner (K-wire. Patients with impaired the alignment of the fracturein late period were usually completely displaced fractures.(n=5, 4,3%, in early period, completely displaced fractures(n=5, 4,3% are superior to partial displaced fractures(n=2, 1,7%.Conclusion: In our study, when children with distal radiusfracture first come, they were treated by closed reductionand immobilization in a plaster cast. We thought that inredisplaced fractures patients were suitable for the closedreduction with percutaneous wire treatment.

  9. Complications of Minimally Invasive Percutaneous Plating for Distal Tibial Fractures.

    Science.gov (United States)

    Muzaffar, Nasir; Bhat, Rafiq; Yasin, Mohammad

    2016-07-01

    The management of distal tibia fractures continues to remain a source of controversy and debate. The aim of this study was to evaluate the various complications of minimally invasive percutaneous plate osteosynthesis (MIPPO) using a locking plate for closed fractures of distal tibia in a retrospective study. Twenty-five patients with distal tibial fractures, treated by minimally invasive percutaneous plate osteosynthesis, were evaluated in a retrospective study. We studied the rate, probable etiological factors and preventive and corrective measures of various complications associated with minimally invasive plating of distal tibia. Mean age of the patients was 41.16 years (range 22 - 65). There were 13 male and 12 female patients. All fractures united at an average duration of 16.8 weeks. There were two cases of superficial and two cases of deep infection, and deep infections required removal of hardware for cure. There were four cases of ankle stiffness, most of them occurring in intra-articular fractures, three cases of palpable implant, three cases of malunion, one case of loss of reduction and one patient required reoperation. The average AO foot and ankle score was 83.6. We found MIPPO using locking plate to be a safe and effective method for the treatment of distal tibial fractures in properly selected patients yet can result in a variety of complications if proper precautions before, during and after surgery are not taken care of.

  10. Recurrent Giant cell tumour in distal Humerus: A Case report

    Directory of Open Access Journals (Sweden)

    Y Bhanu Rekha

    2013-07-01

    Full Text Available Introduction: Giant cell tumour of bone (GCT is a common benign primary bone tumour, seen commonly in the distal Femur, proximal Tibia and distal Radius. Very few cases of GCT are reported in distal humerus. We report an unusual presentation of recurrent Giant cell tumour in a 25 year old male in the medial condyle and epicondyle of left Humerus. Case Report: Patient presented elsewhere with lytic lesion of left elbow three years ago. As it is an uncommon site for tumors, it was misdiagnosed as tuberculous osteomyelitis and was inadequately curetted. Patient presented to us with recurrence of tumor one year after the primary surgery. We did en-bloc resection of the tumour, with judicious removal of partial trochlea. Though reconstruction was planned, it was found to be not necessary as the elbow was stable per-operatively. Patient regained near normal movements of the elbow with no instability. His Mayo Elbow Performance score improved from 30 to 85.There is no recurrence or metastasis of the tumor in the two-year follow-up. Conclusion: Though bone tumors are rare in distal Humerus, biopsy is needed to confirm the diagnosis of any lytic lesion in this region for proper management. Keywords: Recurrent Giant cell tumor, resection of GCT, GCT distal Humerus.

  11. Geochemical characterization of mid-distal Nisyros tephra on Datça peninsula (southwestern Anatolia)

    Science.gov (United States)

    Gençalioğlu-Kuşcu, Gonca; Uslular, Göksu

    2018-04-01

    We present new distal records of tephra deposits that overly the Kos ignimbrite in seven locations of Datça peninsula. Tephra in one of these locations were previously associated with Nisyros Kyra sub-unit based only on the field characteristics. We use different proxies such as field observations, petrography, mineral, glass, and whole-rock chemistry in order to characterize and correlate the previously and recently identified pumice fall deposits on Datça. The total thickness of the fall deposit reaches to 3.5 m. The size of the pumice clasts is generally within the range of lapilli, and they have vitrophyric texture consisting mainly of plagioclase (andesine to labradorite) with scarce clinopyroxene (diopside to augite), olivine (Fo48-50), amphibole (magnesio-hastingsite), and biotite crystals. Amphibole is a ubiquitous phenocryst in all Datça tephra units and used as a criterion for the correlation. Glass major element analyses by EMPA reveal two different groups with andesitic and dacitic compositions. Difference in silica content (up to ca. 4 wt%) detected in the same specimen also designates the heterogeneity in pumice glass. This heterogeneity in glass composition is also supported by the frequent occurrence of banded pumice clasts in Datça tephra. Whole-rock composition of the pumice is mainly andesitic with calc-alkaline affinity. Multi-element patterns on primitive-mantle normalized diagram display typical arc-magmatism signature (i.e. depletion in Nb, Ta, Ti, and P). In order to check and eliminate the potential alternatives, we compared the distal deposits on Datça not only with Kyra, but also with other Nisyros tephra units. Yet, Kyra is the only unit that has comparable depositional characteristics, calcic amphibole crystals, andesitic-dacitic glass and whole-rock chemistry, and distal tephra deposits on neighboring islands (Tilos and Chalki). Therefore, we associate Datça tephra deposits with some proximal Kyra subunits of intermediate

  12. Optimal location of a single distal interlocking screw in intramedullary nailing of distal third femoral shaft fractures.

    Science.gov (United States)

    George, C J; Lindsey, R W; Noble, P C; Alexander, J W; Kamaric, E

    1998-05-01

    This biomechanical study was done to determine the effect of the level of a single distal screw in a static intramedullary (IM) femoral nail on the stability of fixation of a fracture in the distal third of the femur. Fifteen composite fiberglass femora were osteotomized transversely in the distal third of the femur. A Grosse-Kempf nail was implanted into the femurs, which were divided into three groups of five specimens. Single screw distal nail locking was varied distal to the osteotomy site for each group at 2.5, 5.0, and 7.5 centimeters, respectively. All instrumented femurs were mounted on a servohydraulic testing machine and fitted with transducers to measure axial, rotational, and bending displacements. Specimens were cyclically loaded (one hertz) in simultaneous torsion (moment: +/- 10 newton-meters) and axial compression (amplitude: 2,000 newtons) for 500 cycles with a 250-pound abductor force. Data from linear and rotational transducers were sampled at 100 hertz for five cycles before cycling, every 100 cycles of loading, and immediately after cycling. Custom computer software was developed to convert transducer signals into static and dynamic measurements of axial motion (in millimeters), rotation (in degrees), and angulation (in degrees). Osteotomy site dynamic rotation increased significantly in specimens locked at 7.5 centimeters when compared with the 2.5-centimeter group. There was minimal difference between the stability of the 5.0-centimeter and 7.5-centimeter groups. There was no significant change in position at the fracture site before or after cyclic loading with respect to axial shortening, rotation, or bending. Both dynamic axial and angular displacements were also unaffected by screw position. The location of a single distal interlocking screw in static IM nail fixation of distal third femur fractures can significantly affect rotational stability but not axial or angular fixation.

  13. Predicting combinatorial binding of transcription factors to regulatory elements in the human genome by association rule mining

    Directory of Open Access Journals (Sweden)

    Iyer Vishwanath R

    2007-11-01

    Full Text Available Abstract Background Cis-acting transcriptional regulatory elements in mammalian genomes typically contain specific combinations of binding sites for various transcription factors. Although some cis-regulatory elements have been well studied, the combinations of transcription factors that regulate normal expression levels for the vast majority of the 20,000 genes in the human genome are unknown. We hypothesized that it should be possible to discover transcription factor combinations that regulate gene expression in concert by identifying over-represented combinations of sequence motifs that occur together in the genome. In order to detect combinations of transcription factor binding motifs, we developed a data mining approach based on the use of association rules, which are typically used in market basket analysis. We scored each segment of the genome for the presence or absence of each of 83 transcription factor binding motifs, then used association rule mining algorithms to mine this dataset, thus identifying frequently occurring pairs of distinct motifs within a segment. Results Support for most pairs of transcription factor binding motifs was highly correlated across different chromosomes although pair significance varied. Known true positive motif pairs showed higher association rule support, confidence, and significance than background. Our subsets of high-confidence, high-significance mined pairs of transcription factors showed enrichment for co-citation in PubMed abstracts relative to all pairs, and the predicted associations were often readily verifiable in the literature. Conclusion Functional elements in the genome where transcription factors bind to regulate expression in a combinatorial manner are more likely to be predicted by identifying statistically and biologically significant combinations of transcription factor binding motifs than by simply scanning the genome for the occurrence of binding sites for a single transcription

  14. Laparoscopic versus open distal pancreatectomy for pancreatic cancer.

    Science.gov (United States)

    Riviere, Deniece; Gurusamy, Kurinchi Selvan; Kooby, David A; Vollmer, Charles M; Besselink, Marc G H; Davidson, Brian R; van Laarhoven, Cornelis J H M

    2016-04-04

    Surgical resection is currently the only treatment with the potential for long-term survival and cure of pancreatic cancer. Surgical resection is provided as distal pancreatectomy for cancers of the body and tail of the pancreas. It can be performed by laparoscopic or open surgery. In operations on other organs, laparoscopic surgery has been shown to reduce complications and length of hospital stay as compared with open surgery. However, concerns remain about the safety of laparoscopic distal pancreatectomy compared with open distal pancreatectomy in terms of postoperative complications and oncological clearance. To assess the benefits and harms of laparoscopic distal pancreatectomy versus open distal pancreatectomy for people undergoing distal pancreatectomy for pancreatic ductal adenocarcinoma of the body or tail of the pancreas, or both. We used search strategies to search the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, Science Citation Index Expanded and trials registers until June 2015 to identify randomised controlled trials (RCTs) and non-randomised studies. We also searched the reference lists of included trials to identify additional studies. We considered for inclusion in the review RCTs and non-randomised studies comparing laparoscopic versus open distal pancreatectomy in patients with resectable pancreatic cancer, irrespective of language, blinding or publication status.. Two review authors independently identified trials and independently extracted data. We calculated odds ratios (ORs), mean differences (MDs) or hazard ratios (HRs) along with 95% confidence intervals (CIs) using both fixed-effect and random-effects models with RevMan 5 on the basis of intention-to-treat analysis when possible. We found no RCTs on this topic. We included in this review 12 non-randomised studies that compared laparoscopic versus open distal pancreatectomy (1576 participants: 394 underwent laparoscopic distal pancreatectomy and 1182

  15. [Repair of distal biceps brachii tendon rupture: a case report].

    Science.gov (United States)

    Oztürk, Kahraman; Sahin, Vedat

    2002-01-01

    The rupture of the distal tendon of the biceps brachii muscle is a rarely encountered injury, causing flexion and supination losses. There are literature reports giving good results with the use of two-incision technique that fixes the distal biceps brachii tendon to the radial tuberosity. We used this technique in a 49-year-old male patient who had had left distal tendinous rupture of the biceps brachii muscle caused by lifting heavy weight. Functional evaluation at the end of 16 months with the use of the Cybex 350 test machine showed normal range of motions for flexion and extension in the left elbow. There was a 25 percent loss of strength and 5 percent loss of endurance in flexion, and 11 percent loss of endurance in pronation. No complications were observed and a very good functional result was achieved.

  16. [Proximal and distal rupture of the m. biceps brachii].

    Science.gov (United States)

    Lorbach, O; Kieb, M; Grim, C; Engelhardt, M

    2010-12-01

    Ruptures of the biceps tendon account for a high percentage of tendon ruptures. The aetiology of proximal ruptures of the long head of the biceps tendon is often degenerative and they are frequently associated with lesions of the rotator cuff. The clinical findings are often not specific and long lasting. Distal ruptures of the biceps tendon mostly occur during eccentric contraction of the biceps muscle.Clinical tests, the associated haematoma and a distalisation or proximalisation of the muscle belly in combination with ultrasound or MRI to rule out combined diseases lead to the diagnosis. The possible options include conservative and operative treatment. Tenotomy and tenodesis lead to comparable results in the literature. Therefore, conservative treatment is mostly recommended in proximal ruptures. Operative treatment is preferred in distal ruptures of the biceps tendon in order to achieve an anatomical reconstruction of the muscle function. Chronic ruptures of the distal biceps tendon can be successfully treated with free autografts or allografts.

  17. Surgical Management of Fossa Navicularis and Distal Urethral Strictures.

    Science.gov (United States)

    Daneshvar, Michael; Hughes, Michael; Nikolavsky, Dmitriy

    2018-04-17

    Urethral reconstruction has evolved in the last several decades with the introduction of various techniques including fasciocutaneous skin flaps and buccal mucosal grafts. However, distal urethral strictures have continued to be a reconstructive challenge due to tendency for adverse cosmetic outcomes, risks of glans dehiscence or fistula formation, and stricture recurrence. The surgical options for treatment of distal urethral strictures have changed throughout the years; however, there is no one universally accepted technique for their treatment. The current trend for treatment is shifting away from multi-staged procedures or the use of local skin flaps to single-stage transurethral procedures that utilize buccal mucosa with glans preservation. This chapter will describe the evolution of distal urethral stricture treatments tracking gradual improvements and modifications over time. The different interventions include transurethral approaches, such as dilations and visual urethrotomy, meatotomy, and meatoplasty/urethroplasty techniques including genital skin flaps and single- and double-stage repairs with buccal mucosal grafts.

  18. Giant Cell Tumour of the Distal Ulna: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Ruben Jaya Kumar

    2011-07-01

    Full Text Available Giant-cell tumour (GCT of bone, a primary yet locally aggressive benign tumour, commonly affects patients between the ages of 20 and 40 years, with the peak incidence occurring in the third decade. Women are affected slightly more than men. The distal end of the ulna is an extremely uncommon site for primary bone tumours in general and giant cell tumours in particular. Wide resection of the distal ulna is the recommended treatment for GCT in such locations. Radio-ulna convergence and dorsal displacement of the ulna stump are known complications following ulna resection proximal to the insertion of the pronator quadratus. This leads to reduction in grip power and forearm rotatory motion. Stabilization of the ulna stump with extensor carpi ulnaris (ECU tendon after wide resection of the tumour has been described in the literature. We report a case of GCT of distal end of ulna treated with wide resection and stabilization with ECU tendon.

  19. Distal mycotic aneurysm of the AICA mimicking intracanalicular acoustic neuroma.

    Science.gov (United States)

    DiMaio, Salvatore; Mohr, Gérard; Dufour, Jean-Jacques; Albrecht, Steffan

    2003-11-01

    Among cases of cerebellopontine angle lesions, vascular lesions involving the internal auditory canal are extremely rare. We report a distal fusiform mycotic pseudoaneurysm of the anterior inferior cerebellar artery (AICA) that simulated an acoustic neuroma on presentation. A 60-year-old woman was investigated for recent onset of acute dizziness. Laboratory and radiographic investigations are presented, as well as the surgical management of the patient and pathological examination of the aneurysm. An exceptionally rare case of distal mycotic intracanalicular pseudoaneurysm of the AICA with intraluminal thrombus and fusiform anatomy is described. In our review of the literature (1966-present), only five other intracanalicular AICA-aneurysms were encountered, none of which were infectious in etiology. The possible pathophysiologic mechanisms of distal AICA-aneurysms are discussed along with the currently available literature.

  20. Fractures of the distal tibia treated with polyaxial locking plating.

    Science.gov (United States)

    Gao, Hong; Zhang, Chang-Qing; Luo, Cong-Feng; Zhou, Zu-Bin; Zeng, Bing-Fang

    2009-03-01

    We evaluated the healing rate, complications, and functional outcomes in 32 adult patients with very short metaphyseal fragments in fractures of the distal tibia treated with a polyaxial locking system. The average distance from the distal extent of the fracture to the tibial plafond was 11 mm. All fractures healed and the average time to union was 14 weeks. Six patients (19%) reported occasional local disturbance over the medial malleolus. There were two cases of postoperative superficial infections and evidence of delayed wound healing. Using the American Orthopaedic Foot and Ankle Society ankle score, the average functional score was 87.3 points (of 100 total possible points). Our results show the polyaxial locking plates, which offer more fixation versatility, may be a reasonable treatment option for distal tibia fractures with very short metaphyseal segments.

  1. Bone morphometry and mineral contents of the distal part of the fractured third metacarpal bone in thoroughbred racehorses

    International Nuclear Information System (INIS)

    Yoshihara, T.; Oikawa, M.; Wada, R.; Hasegawa, M.; Kaneko, M.

    1990-01-01

    Most of the bone fractures in racehorses occur in the fore limb, especially in the metacarpal joint during the racing and training. The longitudinal fracture of the third metacarpal bone (Mc III) often occurs in the osteosclerotic and/or necrotic lesions in the distal part of the bone. To elucidate the endogenous factors of its fracture, soft radiograms of 4 fractured and 4 non-fractured control cases have been investigated morphometrically by a image analyzer. In addition, to analyze the quality of these bones, 20 elements of mineral contents in the crashed bones have been measured using a fluorescent X-ray analyzer. As the results, the osteosclerotic change was observed in both groups in the plantar side of the distal part of Mc III, however, no significant differences were found in the bone morphometry. No significant differences in the 19 elements of bone mineral were found except Fe. From these findings, the mechanism of the occurrence of the longitudinal fracture in the Mc III remains to be elucidated. In future, further work needs to be done with regard to the mechanical intensity and collagen disposition of the distal part of the Mc III

  2. Minimally Invasive Distal Pancreatectomy: Review of the English Literature.

    Science.gov (United States)

    Wang, Kai; Fan, Ying

    2017-02-01

    Recently, the superiority of the minimally invasive approach, which results in a better cosmetic result, faster recovery, and shorter length of hospital stay, is a technique that has been progressively recognized as it has developed. And the minimally invasive approach has been applied to distal pancreatectomy (DP), which is a standard method for the treatment of benign, borderline, and part of malignant lesions of the pancreatic body and tail. This article aims to analyze the types, postoperative recovery, and outcomes of laparoscopic distal pancreatectomy (LDP). A systematic search of the scientific literature was performed using PubMed, EMBASE, online journals, and the Internet for all publications on LDP. Articles were selected if the abstract contained patients who underwent LDP for pancreatic diseases. All selected articles were reviewed and analyzed. If there were no contraindications for LDP, this operation is suitable for benign, borderline, or malignant tumors of the pancreatic body and tail, which should try to be performed with preservation of the spleen. LDP is safe and feasible under some conditions to experienced surgeon. Single-incision laparoscopic distal pancreatectomy (S-LDP) and robotic laparoscopic distal pancreatectomy (R-LDP) perioperative outcomes are similar with conventional multi-incision laparoscopic distal pancreatectomy (C-LDP). And the advantages of S-LDP and R-LDP require further exploration. With the application of enhanced recovery program (ERP), length of hospital stay and costs are reduced. LDP is safe and feasible under some conditions. Compared with open distal pancreatectomy, LDP has a lot of advantages; a trend was observed for LDP to replace traditional open surgery. LDP combined with ERP is expected to become standard in the treatment of pancreatic body and tail lesions.

  3. Laparoscopic distal pancreatectomy for adenocarcinoma: safe and reasonable?

    Science.gov (United States)

    Postlewait, Lauren M.

    2015-01-01

    As a result of technological advances during the past two decades, surgeons now use minimally invasive surgery (MIS) approaches to pancreatic resection more frequently, yet the role of these approaches for pancreatic ductal adenocarcinoma resections remains uncertain, given the aggressive nature of this malignancy. Although there are no controlled trials comparing MIS technique to open surgical technique, laparoscopic distal pancreatectomy for pancreatic adenocarcinoma is performed with increasing frequency. Data from retrospective studies suggest that perioperative complication profiles between open and laparoscopic distal pancreatectomy are similar, with perhaps lower blood loss and fewer wound infections in the MIS group. Concerning oncologic outcomes, there appear to be no differences in the rate of achieving negative margins or in the number of lymph nodes (LNs) resected when compared to open surgery. There are limited recurrence and survival data on laparoscopic compared to open distal pancreatectomy for pancreatic adenocarcinoma, but in the few studies that assess long term outcomes, recurrence rates and survival outcomes appear similar. Recent studies show that though laparoscopic distal pancreatectomy entails a greater operative cost, the associated shorter length of hospital stay leads to decreased overall cost compared to open procedures. Multiple new technologies are emerging to improve resection of pancreatic cancer. Robotic pancreatectomy is feasible, but there are limited data on robotic resection of pancreatic adenocarcinoma, and outcomes appear similar to laparoscopic approaches. Additionally fluorescence-guided surgery represents a new technology on the horizon that could improve oncologic outcomes after resection of pancreatic adenocarcinoma, though published data thus far are limited to animal models. Overall, MIS distal pancreatectomy appears to be a safe and reasonable approach to treating selected patients with pancreatic ductal

  4. Identification of two conserved cis-acting elements, MYCS and P1BS, involved in the regulation of mycorrhiza-activated phosphate transporters in eudicot species.

    Science.gov (United States)

    Chen, Aiqun; Gu, Mian; Sun, Shubin; Zhu, Lingling; Hong, Shuai; Xu, Guohua

    2011-03-01

    • In this study, six putative promoter regions of phosphate transporter Pht1;3, Pht1;4 and Pht1;5 genes were isolated from eggplant and tobacco using the inverse polymerase chain reaction (iPCR). The isolated sequences show evolutionary conservation and divergence within/between the two groups of Pht1;3 and Pht1;4/Pht1;5. • Histochemical analyses showed that all six promoter fragments were sufficient to drive β-glucuronidase (GUS) expression specifically in arbuscular mycorrhizal (AM) tobacco roots and were confined to distinct cells containing AM fungal structures (arbuscules or intracellular hyphae). • A series of promoter truncation and mutation analyses combined with phylogenetic footprinting of these promoters revealed that at least two cis-regulatory elements--the mycorrhiza transcription factor binding sequence (MYCS) first identified in this study and P1BS--mediated the transcriptional activation of the AM-mediated inorganic phosphate (Pi) transporter genes. Deletion or partial mutation of either of the two motifs in the promoters could cause a remarkable decrease, or even complete absence, of the promoter activity. • Our results propose that uptake of inorganic phosphate (Pi) by AM fungi is regulated, at least partially, in an MYCS- and P1BS-dependent manner in eudicot species. Our finding offers new insights into the molecular mechanisms underlying the coordination between the AM and the Pi signalling pathways. © 2010 The Authors. New Phytologist © 2010 New Phytologist Trust.

  5. Two estrogen response element sequences near the PCNA gene are not responsible for its estrogen-enhanced expression in MCF7 cells.

    Directory of Open Access Journals (Sweden)

    Cheng Wang

    Full Text Available The proliferating cell nuclear antigen (PCNA is an essential component of DNA replication, cell cycle regulation, and epigenetic inheritance. High expression of PCNA is associated with poor prognosis in patients with breast cancer. The 5'-region of the PCNA gene contains two computationally-detected estrogen response element (ERE sequences, one of which is evolutionarily conserved. Both of these sequences are of undocumented cis-regulatory function. We recently demonstrated that estradiol (E2 enhances PCNA mRNA expression in MCF7 breast cancer cells. MCF7 cells proliferate in response to E2.Here, we demonstrate that E2 rapidly enhanced PCNA mRNA and protein expression in a process that requires ERalpha as well as de novo protein synthesis. One of the two upstream ERE sequences was specifically bound by ERalpha-containing protein complexes, in vitro, in gel shift analysis. Yet, each ERE sequence, when cloned as a single copy, or when engineered as two tandem copies of the ERE-containing sequence, was not capable of activating a luciferase reporter construct in response to E2. In MCF7 cells, neither ERE-containing genomic region demonstrated E2-dependent recruitment of ERalpha by sensitive ChIP-PCR assays.We conclude that E2 enhances PCNA gene expression by an indirect process and that computational detection of EREs, even when evolutionarily conserved and when near E2-responsive genes, requires biochemical validation.

  6. Locking plates in distal humerus fractures: study of 43 patients

    Directory of Open Access Journals (Sweden)

    Gupta Rakesh Kumar

    2013-08-01

    Full Text Available 【Abstract】Objective: The treatment of multi-fragmentary, intraarticular fractures of the distal humerus is difficult, even in young patients with bone of good quality. Small distal fragment, diminished bone mineral quality and increased trauma-associated joint destruction make stable joint reconstruction more problematic. The anatomically preshaped locking plates allow angular stable fixation for these complex fractures. We evaluated functional results of patients treated with open reduction and internal fixation with distal humerus locking plates for complex distal hu-merus fractures. Methods: Forty-three consecutive patients with ar-ticular fractures of the distal humerus were treated by open reduction and internal fixation with AO distal humerus plate system and locking reconstruction plates. Forty patients were available for the final outcome analysis. According to AO/ASIF classification, there were 2 cases of type A2, 4 cases of type A3, 1 case of type B1, 1 case of type B2, 14 cases of type C1, 7 cases of type C2 and 11 cases of type C3. Open reduction with triceps splitting technique was used in all patients. The clinical and radiographic follow-up was performed and outcome measures included pain assessment, range of motion, and Mayo elbow performance score. Results: Forty patients were available for the final outcome analysis. There were 29 males and 11 females with an average age of 38.4 years (18-73 years. Clinical and ra-diological consolidation of the fracture was observed in all cases at an average of 11.6 weeks (9-14 weeks. The average follow-up was 12 months (10-18 months. Using the Mayo elbow performance score the results obtained were graded as excellent or good results in 33 patients (82.5%. One pa-tient had superficial infection, and 4 had myositis ossificans. There were no cases of primary malposition or secondary displacement, implant failure or ulnar neuropathy. Conclusion: Anatomically preshaped distal humerus locking

  7. Current concepts in the treatment of distal radial fractures.

    Science.gov (United States)

    Ruch, David S; Weiland, Andrew J; Wolfe, Scott W; Geissler, William B; Cohen, Mark S; Jupiter, Jesse B

    2004-01-01

    Surgical indications for the treatment of distal radial fractures are evolving. It is important to identify the various articular fragments and their significance to facilitate optimal surgical treatment of these fragments from the standpoint of both internal and external fixation. New techniques in the visualization and stabilization of the articular surface and the treatment of defects in the metaphysis, including the use of cement to buttress the articular surface, have been brought to the forefront. A treatment algorithm for associated injuries to the distal radioulnar joint is also helpful.

  8. Neglected Distal Humeral Epiphyseal Injury - Two Case Reports

    Directory of Open Access Journals (Sweden)

    Dr. Pankaj Kumar

    2008-07-01

    Full Text Available Distal humeral epiphyseal separation is an uncommon injury in children, which can be missed or misdiagnosed at initial presentation. Awareness of this injury and appropriate radiological assessment helps in proper management. Neglected cases because of inappropriate diagnosis can result in cubitus varus deformity. Full range of movements of elbow can be achieved if properly diagnosed and managed. We present two cases of neglected distal humeral epiphyseal injury in children that resulted in cubitus varus deformity in one case. Full range of movements was achieved in both cases after proper management.

  9. Galeazzi fracture with volar dislocation of the distal radioulnar joint.

    Science.gov (United States)

    Kim, Suezie; Ward, James P; Rettig, Michael E

    2012-11-01

    Galeazzi fracture dislocations are fractures of the distal one-third of the radial diaphysis with traumatic disruption of the distal radioulnar joint (DRUJ). This injury results in subluxation or dislocation of the ulnar head. We present a case of a Galeazzi fracture with a volar dislocation of the DRUJ. Open reduction of the DRUJ with Kirschner wire fixation in pronation was necessary to reduce the joint and maintain anatomic alignment. Repair of the triangular fibrocartilage complex was also necessary to maintain stability of the DRUJ.

  10. External Fixation of Unstable Distal Radius Fracture. A Case Report

    OpenAIRE

    Yaniel Truffin Rodríguez; Rafael Esmandy Gámez Arregoitía; Indira L. Gómez Gil; José Julio Requeiro Morejón

    2014-01-01

    Unstable fracture of the distal radius is a common injury. If not properly treated, it can cause major disturbance in the radiocarpal joint and impaired hand function. A case of a 42-year-old patient of rural origin without a history of previous conditions treated at the Gustavo Aldereguía Lima Hospital in Cienfuegos is presented. He suffered a fall on the outstretched hand, which led to an unstable fracture of the left distal radius. Emergency surgery consisting of manual fracture reduction ...

  11. Traumatisk distal humerus-epifysiolyse hos nyfødt

    DEFF Research Database (Denmark)

    Al-Aubaidi, Zaid; Nielsen, Keld Daubjerg

    2010-01-01

    Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may be overloo......Traumatic distal humerus epiphysiolysis (TDHE) is a rare injury in infants with an incidence of about 1:35,000 births. It is primarily a birth injury, but it is also seen in cases of battered child syndrome. Because of its rare occurrence and the diagnostic difficulties, the lesion may...

  12. Osteoblastoma-like osteosarcoma of the distal tibia

    Energy Technology Data Exchange (ETDEWEB)

    Abramovici, Luigia; Steiner, German C. [Department of Pathology and Laboratory Medicine, Hospital for Joint Diseases, New York, NY (United States); Kenan, Samuel [Department of Orthopaedic Oncology Surgery, Hospital for Joint Diseases, New York, NY (United States); Hytiroglou, Prodromos [Aristotle University, Thessaloniki (Greece); Rafii, Mahvash [Department of Radiology, Hospital for Joint Diseases, New York, NY (United States)

    2002-03-01

    We report a case of a 14-year-old boy with an intracompartmental lytic lesion with poorly defined margins in the right distal tibia that was originally treated with curettage and bone grafting. Histologic examination showed an osteoblastic tumor with unusual features, which was found on consultation to be an osteoblastoma-like osteosarcoma, a rare, low-grade variant of osteosarcoma. Subsequently, the patient underwent en bloc resection of the distal tibia, which was replaced with vascularized bone graft and followed by chemotherapy. Two years later, he is alive with lung metastases. (orig.)

  13. Distal vertebral artery reconstruction when managing vertebrobasilar insufficiency

    Directory of Open Access Journals (Sweden)

    D. M. Galaktionov

    2017-11-01

    Full Text Available This article presents a literature review devoted to the reconstruction of the distal vertebral artery and a clinical case of successful surgical treatment of a patient suffering from vertebrobasilar insufficiency caused by occlusion of the vertebral artery in a proximal segment. The external carotid artery-distal vertebral artery bypass was performed by using the radial artery.Received 27 February 2017. Revised 25 July 2017. Accepted 3 August 2017.Funding: The study did not have sponsorship.Conflict of interest: The authors declare no conflict of interest. 

  14. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association

    Directory of Open Access Journals (Sweden)

    P Ravi

    2013-01-01

    Full Text Available Renal tubular acidosis (RTA is characterized by a normal anion gap with hyperchloremic metabolic acidosis. Primary distal RTA (type I is the most common RTA in children. Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. Amelogenesis imperfecta (AI represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or hypopigmented teeth. We report a 10-year-old girl, previously asymptomatic presented with the hypokalemic paralysis and on work-up found out to have type I RTA. The discoloration of teeth and enamel was diagnosed as AI.

  15. Imaging of the Proximal and Distal Radioulnar Joints.

    Science.gov (United States)

    Ehman, Eric C; Felmlee, Joel P; Frick, Matthew A

    2015-08-01

    The proximal and distal radioulnar joints form a unique articular arrangement between the radius and ulna, allowing pivot motion of the forearm and positioning the hand in space. Typically imaged in conjunction with the elbow, radiographs, computed tomography (CT), and MR imaging of the proximal radioulnar joint contribute unique diagnostic information. Because dysfunction of the distal radioulnar joint is often a result of instability, dynamic CT protocols stressing the joint in addition to anatomic imaging with radiographs and MR imaging is valuable. Detailed knowledge of the patient's clinical condition and careful selection of imaging protocols will maximize the benefits. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Screening renal stone formers for distal renal tubular acidosis

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    A group of 110 consecutive renal stone formers were screened for distal renal tubular acidosis (RTA) using morning fasting urinary pH (mfUpH) levels followed by a short ammonium chloride loading test in patients with levels above 6.0. In 14 patients (12.7%) a renal acidification defect was noted...... RTA in renal stone formers. Regardless of whether the acidification defect is primary or secondary to stone formation, however, all renal stone formers with distal RTA can expect to benefit from prophylactic alkaline therapy and it is recommended that the screening procedure, which is easy to use...

  17. Large-scale identification of coregulated enhancer networks in the adult human brain.

    Science.gov (United States)

    Vermunt, Marit W; Reinink, Peter; Korving, Jeroen; de Bruijn, Ewart; Creyghton, Paul M; Basak, Onur; Geeven, Geert; Toonen, Pim W; Lansu, Nico; Meunier, Charles; van Heesch, Sebastiaan; Clevers, Hans; de Laat, Wouter; Cuppen, Edwin; Creyghton, Menno P

    2014-10-23

    Understanding the complexity of the human brain and its functional diversity remain a major challenge. Distinct anatomical regions are involved in an array of processes, including organismal homeostasis, cognitive functions, and susceptibility to neurological pathologies, many of which define our species. Distal enhancers have emerged as key regulatory elements that acquire histone modifications in a cell- and species-specific manner, thus enforcing specific gene expression programs. Here, we survey the epigenomic landscape of promoters and cis-regulatory elements in 136 regions of the adult human brain. We identify a total of 83,553 promoter-distal H3K27ac-enriched regions showing global characteristics of brain enhancers. We use coregulation of enhancer elements across many distinct regions of the brain to uncover functionally distinct networks at high resolution and link these networks to specific neuroglial functions. Furthermore, we use these data to understand the relevance of noncoding genomic variations previously linked to Parkinson's disease incidence.

  18. Finite element modeling of intermuscular interactions and myofascial force transmission

    NARCIS (Netherlands)

    Yucesoy, C.A.; Koopman, Hubertus F.J.M.; Huijing, P.A.J.B.M.; Grootenboer, H.J.

    2001-01-01

    A finite element muscle model to study the principles of intermuscular myofascial force transmission is developed. The results obtained explain force differences at the distal and proximal tendons of muscles that have mechanical interaction. This is in agreement with experimental findings in other

  19. PELTIER ELEMENTS

    CERN Document Server

    Tani, Laurits

    2015-01-01

    To control Peltier elements, temperature controller was used. I used TEC-1091 that was manufactured my Meerstetter Engineering. To gain control with the temperature controller, software had to be intalled on a controlling PC. There were different modes to control the Peltier: Tempererature controller to control temperature, Static current/voltage to control voltage and current and LIVE ON/OFF to auto-tune the controller respectively to the system. Also, since near the collision pipe there is much radiation, radiation-proof Peltier elements have to be used. To gain the best results, I had to find the most efficient Peltier elements and try to get their cold side to -40 degrees Celsius.

  20. Propeller Flap for Complex Distal Leg Reconstruction: A Versatile ...

    African Journals Online (AJOL)

    have been described in the axilla, periolecranon, forearm, lower extremity,[1] hand,[6] and trunk.[7] In spite of the versatility of perforator‑based flaps, literature search reveals ... Anatomy of distal leg perforators. Perforators are small diameter vessels that originate from a main pedicle and perforate the fascia or muscle to ...

  1. A traction jig for reduction of distal radial fractures.

    Science.gov (United States)

    Wise, David; Coats, Tim; Persad, Ram

    2004-01-01

    A traction jig is described which facilitates the closed reduction of extra-articular distal radial fractures and which maintains the reduction whilst a plaster cast is applied. The jig is suitable for use by a single operator in an Accident and Emergency department setting.

  2. Comparative distalization effects of Jones jig and pendulum appliances.

    Science.gov (United States)

    Patel, Mayara Paim; Janson, Guilherme; Henriques, José Fernando Castanha; de Almeida, Renato Rodrigues; de Freitas, Marcos Roberto; Pinzan, Arnaldo; de Freitas, Karina Maria Salvatore

    2009-03-01

    In this study, we compared the dentoalveolar changes of Class II patients treated with Jones jig and pendulum appliances. The experimental group comprised 40 Class II malocclusion subjects, divided into 2 groups: group 1 consisted of 20 patients (11 boys, 9 girls) at a mean pretreatment age of 13.17 years, treated with the Jones jig appliance for 0.91 years; group 2 comprised 20 patients (8 boys, 12 girls) at a mean pretreatment age of 13.98 years, treated with the pendulum appliance for 1.18 years. Only active treatment time of molar distalization was evaluated in the predistalization and postdistalization lateral cephalograms. Molar, second premolar, and incisor angular and linear variables were obtained. The intergroup treatment changes in these variables were compared with independent t tests. The maxillary second premolars showed greater mesial tipping and extrusion in the Jones jig group, indicating more anchorage loss during molar distalization with this appliance. The amounts and the monthly rates of molar distalization were similar in both groups. The Jones jig group showed greater mesial tipping and extrusion of the maxillary second premolars. The mean amounts and the monthly rates of first molar distalization were similar in both groups.

  3. Distal skin vasodilation promotes rapid sleep onset in preterm neonates.

    Science.gov (United States)

    Barcat, Lucile; Decima, Pauline; Bodin, Emilie; Delanaud, Stephane; Stephan-Blanchard, Erwan; Leke, Andre; Libert, Jean-Pierre; Tourneux, Pierre; Bach, Veronique

    2017-10-01

    Although sleep is of paramount importance for preterm neonates, care of the latter in a neonatal intensive care unit does not favour sleep. Given that several studies in adults have described a 'vegetative preparedness to sleep' (in which distal skin vasodilation before lights-out promotes rapid sleep onset), we looked at whether or not this process operates in preterm neonates. Sleep propensity was assessed in terms of the duration of a spontaneous episode of wakefulness (W). Skin temperatures at six body sites (the abdomen, pectoral region, eye, hand, thigh and foot) were measured (using infrared thermography) during nocturnal polysomnography in 29 9-day-old preterm neonates (postmenstrual age: 209 ± 9 days). We then determined whether the duration of the W episode depended upon the local skin temperatures measured at the start, during and end of the episode. The W episode was shorter when distal skin temperatures (thigh, hand and foot) and the pectoral temperature were higher at the end of the episode (i.e. at sleep onset). The relationship with the duration of the W episode was not significant for temperatures measured at the start of the W episode. We observed gradual distal vasodilation at the pectoral region, the thigh, hand and foot (i.e. affecting most of the body's skin surface) during W episodes. Our results constitute initial evidence to show that distal vasodilation may have a key role in facilitating sleep onset in very preterm neonates. © 2017 European Sleep Research Society.

  4. Proximal and distal environmental correlates of adolescent obesity.

    Science.gov (United States)

    Nesbit, Kathryn C; Kolobe, Thubi A; Arnold, Sandra H; Sisson, Susan B; Anderson, Michael P

    2014-08-01

    The purpose of this study was to determine how proximal (home) and distal (neighborhood) environmental characteristics interact to influence obesity in early and middle adolescents. This was a descriptive, cross-sectional study using the 2007 National Survey of Children's Health (NCSH). Participants were 39,542 children ages 11 to 17 years. Logistic regressions were used to examine the relationship between adolescent obesity and environmental factors, the relative strength of these factors, and the influence of age and gender. Proximal environmental factors were stronger correlates of adolescent obesity than distal environmental factors. Sedentary behavior related to TV watching time at home was the strongest correlate of adolescent obesity overall (OR 1.13, 95% CI 1.11-1.15). Parks and playgrounds (OR 0.86, 95% CI 0.08-0.92), as well as recreation centers (OR 0.91, 95% CI 0.85-0.97) were significant distal environmental factor correlates. Girls and middle adolescents were at less risk for obesity than boys and early adolescents (OR 0.51, 95% CI 0.68-0.82; OR 0.75, 95% CI 0.68-0.96). The results of this study reveal the importance of proximal environmental characteristics on adolescent obesity relative to distal environmental characteristics. Obesity intervention strategies for adolescents should target sedentary behavior and opportunities for physical activity with a focus on early adolescents and boys.

  5. Surgical management of acute distal biceps tendon rupture ...

    African Journals Online (AJOL)

    Acute distal biceps tendon rupture constitute a rare lesion of biceps injuries, typically, easy to diagnosis after lifting a heavy object. Treatment is controversial, nonoperative for sedentary and elderly patients; surgical for young and active individuals. Many operative techniques are described, they all aim to restore an ...

  6. Evaluation of various filling techniques in distal canals of mandibular ...

    African Journals Online (AJOL)

    Evaluation of various filling techniques in distal canals of mandibular molars instrumented with different single-file nickel-titanium systems. ... Comparisons between groups were applied using Student's t-test or one-way ANOVA for normally distributed data. The Mann-Whitney U-test or Kruskal-Wallis test was used when ...

  7. Distal adding-on phenomenon in Lenke 1A scoliosis

    DEFF Research Database (Denmark)

    Wang, Yu; Hansen, Ebbe Stender; Høy, Kristian

    2011-01-01

    the instrumentation) from the CSVL (the vertical line that bisects proximal sacrum). Five methods for determining LIV were compared in both the adding-on group and no adding-on group. RESULTS: Out of the 278 patients reviewed, 45 met the inclusion criteria; 23 of these met the definition for distal adding...

  8. Distal biceps reconstruction 13 years post-injury.

    Science.gov (United States)

    Burrus, M Tyrrell; Chhabra, A Bobby

    2015-04-01

    Distal biceps tendon ruptures are relatively rare injuries most commonly caused by an eccentric contraction of the biceps brachii. The majority of complete ruptures receive early surgical intervention, however, some patients do present in a delayed fashion. There are many surgical options at this time for acute and chronic injuries, and this case report describes an Achilles allograft reconstruction in a male who sustained a complete tear 13 years prior to presentation. At 12-month follow up, he had regained full function of his dominant extremity as evidence by returning to work with no limitations and by a Disabilities of the Arm, Shoulder, and Hand (DASH) score of zero. We are unaware of a successfully surgically reconstructed distal biceps tendon of this chronicity. As the literature on this subject is sparse, this case report gives credence to the idea that certain patients with a chronic distal biceps rupture should be considered for operative reconstruction and not relegated to continued failed conservative treatment. Discussed are the surgical treatment options and controversies for chronic distal biceps ruptures, and we review various outcome studies using different surgical techniques.

  9. Bilateral ruptures of the distal biceps brachii tendon.

    Science.gov (United States)

    Schneider, Adam; Bennett, J Michael; O'Connor, Daniel P; Mehlhoff, Thomas; Bennett, James B

    2009-01-01

    The purpose of this study was to identify characteristics associated with bilateral ruptures of the distal biceps tendons. We present a retrospective case series of 25 patients who sustained non-simultaneous bilateral distal biceps brachii tendon ruptures that were repaired surgically, with follow-up available on 10 patients. The average age of the patients was 50 years (range 28-76). All patients were male. The mean time from the first tendon rupture to the contralateral tendon rupture was 2.7 years (range 0.5 - 6.3). Follow-up averaged 45 months (range 24-85). Patients with bilateral ruptures tended to be middle-aged men, who commonly participated in weight lifting, manual labor, or sports, and who had higher rates of nicotine (50%) and anabolic steroid use (20%) than the general population. After surgical repair of 9 of 10 patients, patients with bilateral distal biceps tendon ruptures had good to excellent outcomes. With the numbers available, outcomes were not statistically associated with manual labor, past medical history, prescription medications, prior tendon injury, body mass index, current activity in sports, use of nutritional supplements, or anabolic steroid use, although worker's compensation claims approached statistical significance (p = 0.059). Patients who sustained bilateral distal biceps tendon ruptures tended to be middle-aged men with higher rates of nicotine and anabolic steroid use than the general population.

  10. Distal Renal Tubular Acidosis, an Uncommonly diagnosed Cause of ...

    African Journals Online (AJOL)

    Five cases of distal renal tubular acidosis aged between 2½ weeks and 2½ months are described. The presenting features included lethargy, refusal to feed, high density of periodic respiration, vomiting and recurrent episodes of unexplained metabolic acidosis. A constant feature was failure to thrive despite caloric intakes ...

  11. Conservative management of distal leg necrosis in lung transplant recipients.

    Science.gov (United States)

    Aigner, F; Husmann, M; Huber, L C; Benden, C; Schuurmans, M M

    2017-05-01

    Critical limb ischemia (CLI) with distal leg necrosis in lung transplant recipients (LTR) is associated with a high risk for systemic infection and sepsis. Optimal management of CLI has not been defined so far in LTR. In immunocompetent individuals with leg necrosis, surgical amputation would be indicated and standard care. We report on the outcome of four conservatively managed LTR with distal leg necrosis due to peripheral arterial disease (PAD) with medial calcification of the distal limb vessels. Time interval from lung transplantation to CLI ranged from four years (n = 1) to more than a decade (n = 3). In all cases a multimodal therapy with heparin, acetylsalicylic acid, iloprost and antibiotic therapy was performed, in addition to a trial of catheter-based revascularization. Surgical amputation of necrosis was not undertaken due to fear of wound healing difficulties under long-term immunosuppression and impaired tissue perfusion. Intensive wound care and selective debridement were performed. Two patients developed progressive gangrene followed by auto-amputation during a follow-up of 43 and 49 months with continued ambulation and two patients died of unrelated causes 9 and 12 months after diagnosis of CLI. In conclusion, we report a conservative treatment strategy for distal leg necrosis in LTR without surgical amputation and recommend this approach based on our experience. Copyright © 2017 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.

  12. Propeller Flap for Complex Distal Leg Reconstruction: A Versatile ...

    African Journals Online (AJOL)

    Reverse sural artery fasciocutaneous flap has become a workhorse for the reconstruction of distal leg soft tissue defects. When its use is not feasible, perforator‑based propeller flap offers a better, easier, faster, and cheaper alternative to free flap. We present our experience with two men both aged 34 years who sustained ...

  13. Laparoscopic versus open distal pancreatectomy for pancreatic cancer

    NARCIS (Netherlands)

    Riviere, D.M.; Gurusamy, K.S.; Kooby, D.A.; Vollmer, C.M.; Besselink, M.G.; Davidson, B.R.; Laarhoven, C.J.H.M. van

    2016-01-01

    BACKGROUND: Surgical resection is currently the only treatment with the potential for long-term survival and cure of pancreatic cancer. Surgical resection is provided as distal pancreatectomy for cancers of the body and tail of the pancreas. It can be performed by laparoscopic or open surgery. In

  14. Laparoscopic versus open distal pancreatectomy for pancreatic cancer

    NARCIS (Netherlands)

    Riviere, Deniece; Gurusamy, Kurinchi Selvan; Kooby, David A.; Vollmer, Charles M.; Besselink, Marc G. H.; Davidson, Brian R.; van Laarhoven, Cornelis J. H. M.

    2016-01-01

    Surgical resection is currently the only treatment with the potential for long-term survival and cure of pancreatic cancer. Surgical resection is provided as distal pancreatectomy for cancers of the body and tail of the pancreas. It can be performed by laparoscopic or open surgery. In operations on

  15. Autosomal dominant distal myopathy: Linkage to chromosome 14

    Energy Technology Data Exchange (ETDEWEB)

    Laing, N.G.; Laing, B.A.; Wilton, S.D.; Dorosz, S.; Mastaglia, F.L.; Kakulas, B.A. [Australian Neuromuscular Research Institute, Perth (Australia); Robbins, P.; Meredith, C.; Honeyman, K.; Kozman, H.

    1995-02-01

    We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22 autosomes were run. Positive linkage was obtained with 14 of 15 markers tested on chromosome 14, with little indication of linkage elsewhere in the genome. Maximum two-point LOD scores of 2.60 at recombination fraction .00 were obtained for the markers MYH7 and D14S64 - the family structure precludes a two-point LOD score {ge} 3. Recombinations with D14S72 and D14S49 indicate that this distal myopathy locus, MPD1, should lie between these markers. A multipoint analysis assuming 100% penetrance and using the markers D14S72, D14S50, MYH7, D14S64, D14S54, and D14S49 gave a LOD score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a LOD score of 2.8 at this marker. This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity. 24 refs., 3 figs., 1 tab.

  16. Stressfrakturer af distale fibula hos en patient med osteoporose

    DEFF Research Database (Denmark)

    Schwartz, Frederik; Heerfordt, Ida Marie

    2014-01-01

    We report a case of an 81-year-old osteoporotic woman, who suffered stress fractures of the distal fibula on both sides within a two-year period. The risk factors for stress fractures are reviewed and the importance of a high index of suspicion for stress fractures is emphasized. When a stress fr...

  17. Evaluation of Various Filling Techniques in Distal Canals of ...

    African Journals Online (AJOL)

    2017-03-06

    Mar 6, 2017 ... treatment.[10] The percentage of GP-filled areas (PGFAs) has been used as a measure of the quality of the root filling.[7] Therefore, the aim of this study was to compare different filling techniques in the distal canals of lower molars, instrumented by different single-file systems, and the canal area in terms of ...

  18. Non-Vascularised Fibular Grafting After Resection of Distal Femoral ...

    African Journals Online (AJOL)

    Background: Vascularized fibular grafting, allografting, megaprosthesis and allograft-prosthesis composite are suitable limb salvage techniques after resection of ... the initial observation showed such a wide non-vascularized fibular grafting for arthrodesis of the knee after resection of the distal femoral tumours is a feasible ...

  19. Snodgrass repair for distal hypospadias: a review of 75 cases

    African Journals Online (AJOL)

    urologists for distal hypospadias correction. We review our cases to find out whether there was any difference in the rate of urethrocutaneous fistula after the use of single- versus double-layer tubularization, the use of thick versus thin dorsal prepuce subcutaneous flap (DPF), the use of. DPF versus the ventral dartos flap for ...

  20. Urethral advancement procedure in the treatment of primary distal ...

    African Journals Online (AJOL)

    advancement in the repair of primary distal penile hypospadias with regard to feasibility, complication rates .... stones and growth, and any associated congenital anomaly. Meticulous local examination was performed ... with a tourniquet placed on the root of the penis. A submeatal crescent-like incision was performed a few.

  1. Simultaneous bilateral distal biceps tendon repair: case report

    Directory of Open Access Journals (Sweden)

    Thiago Medeiros Storti

    Full Text Available ABSTRACT Simultaneous bilateral rupture of the distal biceps tendon is a rare clinical entity, seldom reported in the literature and with unclear therapeutic setting. The authors report the case of a 39-year-old white man who suffered a simultaneous bilateral rupture while working out. When weightlifting with elbows at 90° of flexion, he suddenly felt pain on the anterior aspect of the arms, coming for evaluation after two days. He presented bulging contour of the biceps muscle belly and ecchymosis in the antecubital fossa, extending distally to the medial aspect of the forearm, as well as a marked decrease of supination strength and pain in active elbow flexion. MRI confirmed the rupture with retraction of the distal biceps bilaterally. The authors opted for performing the tendon repairs simultaneously through the double incision technique and fixation to the bicipital tuberosity with anchors. The patient progressed quite well, with full return to labor and sports activities, being satisfied with the result after two years of surgery. In the literature search, few reports of simultaneous bilateral rupture of the distal biceps were retrieved, with only one treated in the acute phase of injury. Therefore, the authors consider this procedure to be a good option to solve this complex condition.

  2. Neglected distal humeral epiphyseal injury - Two Case Reports ...

    African Journals Online (AJOL)

    We present two cases of neglected distal humeral epiphyseal injury in children that resulted in cubitus varus deformity in one case. Full range of movements was achieved in both cases after proper management. Keywords: Neglected epiphyseal injury; Cubitus varus; Diagnosis; Treatment Internet Journal of Medical Update ...

  3. Unusual migration of ventriculo peritoneal distal catheter into vagina

    Directory of Open Access Journals (Sweden)

    Sghavamedin Tavallaee

    2015-04-01

    Full Text Available VP shunt is one of the most popular methods for ICP reduction and treatment of hydrocephalus. Various complications of this method are not uncommon such as shunt malfunction, infection and unusual migration of distal catheter. I present a case of migration of the peritoneal catheter out of the vagina.

  4. Endoprosthetic replacement of distal femoral tumors in Nigeria: A ...

    African Journals Online (AJOL)

    2015-08-12

    Aug 12, 2015 ... In this observational study, three consecutive patients who were treated for distal femur tumours using endoprosthetic replacement between June 2013 and June 2014 were studied. The patients were within the ages of 28-47 years at the time of surgery. All three patients had modular endoprosthesis ...

  5. Subtrochanteric and Distal Femur Fractures in a Patient with ...

    African Journals Online (AJOL)

    There was an improvement of the preinjury function attributed to the osteotomy of the femoral diaphyseal, which alleviated the anterior thigh discomfort. Keywords: Amputation, Distal femur fracture, Femoral shaft fracture, Femur, Femur fractures, Fracture fixation, Fracture malunion, Fractures, Intramedullary nail, Knee ...

  6. Class II correction prior to orthodontics with the carriere distalizer.

    Science.gov (United States)

    McFarlane, Bruce

    2013-01-01

    Class II correction is a challenge in orthodontics with many existing devices being complex, too compliance-driven, or too prone to breakage. The Carriere Distalizer allows for straightforward Class II correction prior to orthodontics (fixed or clear aligners) at a time when no other mechanics interfere, and compliance is at its best.

  7. An electro-myographic study of the distal porcine ureter

    NARCIS (Netherlands)

    Roshani, H.; Dabhoiwala, N. F.; Dijkhuis, T.; Ongerboer de Visser, B. W.; Kurth, K. H.; Lamers, W. H.

    2000-01-01

    PURPOSE: The accumulation of urine in the renal pelvis causes depolarisation of non-specific muscular pace-maker cells. The wave of depolarisation spreads distally in the ureteric smooth muscle cells via gap junctions. This wave of excitation causes a coordinated peristaltic contraction which

  8. Outcome of management of distal radius fractures in ...

    African Journals Online (AJOL)

    Background and Purpose: Distal radial fractures are common fractures of postmenopausal age group patients. They are often called fractures of osteoporosis. These fractures are considered to be one of the commonest minor injuries to cause major morbidity in the community. A lot of patient who need surgery, fail to afford ...

  9. Genetics Home Reference: CAV3-related distal myopathy

    Science.gov (United States)

    ... gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [ ... 3 cause four distinct autosomal dominant muscle diseases. Neurology. 2004 Feb 24;62(4):538-43. Review. ...

  10. Spontaneous resolution of splenic infarcts after distal splenorenal ...

    African Journals Online (AJOL)

    Background: In cases of portal hypertension with splenic infarcts, splenectomy with proximal splenorenal shunt has been recommended. We are sharing our experience with distal splenorenal shunt in these cases contrary to the popular belief. Materials and Methods: Splenic infarcts were graded as mild, moderate and ...

  11. Local repair of distal thoracal aortic dissections (Locus minoris resistencia).

    Science.gov (United States)

    Belov, Iu V; Komarov, R N; Stepanenko, A B; Gens, A P; Charchian, E R

    2007-01-01

    The paper presents the method of local repair of distal aortic dissections. Local aortic grafting for surgical correction of type B dissecting aortic aneurysms helped to decrease hospital mortality up to 15.4%, the rate of paraparesis and multiorgan failure - up to 11.5%.

  12. FUEL ELEMENT

    Science.gov (United States)

    Bean, R.W.

    1963-11-19

    A ceramic fuel element for a nuclear reactor that has improved structural stability as well as improved cooling and fission product retention characteristics is presented. The fuel element includes a plurality of stacked hollow ceramic moderator blocks arranged along a tubular raetallic shroud that encloses a series of axially apertured moderator cylinders spaced inwardly of the shroud. A plurality of ceramic nuclear fuel rods are arranged in the annular space between the shroud and cylinders of moderator and appropriate support means and means for directing gas coolant through the annular space are also provided. (AEC)

  13. Radiographic element

    International Nuclear Information System (INIS)

    Abbott, T.I.; Jones, C.G.

    1983-01-01

    Radiographic elements are disclosed having first and second silver halide emulsion layers comprised of a dispersing medium and radiation-sensitive silver halide grains, and a support interposed between said silver halide emulsion layers capable of transmitting radiation to which said second silver halide emulsion layer is responsive. These elements are characterized in that at least said first silver halide emulsion layer contains tabular silver halide grains and spectral sensitizing dye adsorbed to the surface of the grains. Crossover can be improved in relation to the imaging characteristics. (author)

  14. Evaluation of the Jones jig appliance for distal molar movement.

    Science.gov (United States)

    Brickman, C D; Sinha, P K; Nanda, R S

    2000-11-01

    The purpose of this study was to determine the effects of the Jones jig appliance on distal movement of maxillary molars and reciprocal effects on premolars and maxillary incisors. Cephalometric radiographs before and after orthodontic treatment of 72 consecutively treated patients, 46 females and 26 males, were measured to define treatment changes attributed to the Jones jig. Comparative measurements were made on a matched sample of 35 patients (20 females and 15 males) treated with cervical headgear by the same clinician. Both series of patients were treated to correct an Angle Class II molar relationship. The molar correction in the Jones jig patients consisted primarily of molar distal movement. Dental, soft tissue, and skeletal changes were evaluated and compared for significant differences between techniques. The results from the Jones jig sample showed the mean maxillary first molar distal movement was 2.51 mm, with distal tipping of 7.53 degrees. The mean reciprocal mesial movement of the maxillary premolar was 2.0 mm, with mesial tipping of 4.76 degrees. The maxillary first molar extruded 0.14 mm; the maxillary premolar extruded 1.88 mm. The maxillary second molars were also moved distally 2.02 mm and tipped distally 7.89 degrees. The longitudinal assessment (initial to completion of orthodontic treatment) showed significant differences between the Jones jig sample and the cervical headgear sample for lower lip to E-line and SNA. The Jones jig sample showed a mean decrease in lower lip to E-line of 0.25 mm versus 1.20 mm (P jig sample versus 1.20 degrees (P jig sample and cervical headgear sample did not show significant differences of the final position in either linear or angular measurements of the maxillary first molars and corresponding premolar-incisor anchor units. The Jones jig appliance demonstrated treatment results comparable with those of the sample treated with cervical headgear. The Jones jig sample demonstrated effective distal molar

  15. VOLAR LOCKING PLATE OSTEOSYNTHESIS IN DISTAL END RADIUS FRACTURES

    Directory of Open Access Journals (Sweden)

    Gyan Ranjan

    2017-07-01

    Full Text Available BACKGROUND Distal end Radius fractures account for about 20% of all the fracture treated in emergency department of Kosi & Seemanhcal area in Bihar. The majority of osteoporotic fractures occur as a result of fall from standing height on outstretched hand while in young patients, distal end radius fractures are seen secondary to RTA & sports activities. We conducted a study of a small group to evaluate the functional outcome of ORIF & volar locking plate fixation done for distal end radius fractures after one year. MATERIALS AND METHODS Records of 19 men and 41 women aged 17 to 78 years who underwent volar locking plate fixation for distal radial fractures were reviewed. According to AO-Classification of Distal End Radius fractures. 2 Patients had A2 Type of fracture, 3 had A3 Type, both B2 & B3 had 4 cases each, 15 of C1 Type, 21 of C2 type and 11 0f C3 Type. Functional outcome was assessed by using “Demerit point rating system” of Gartland & Werley. In all the patients at their final follow-up visit at 12 months. RESULTS Out of all these 60 patients, 9 cases had 10 complications, 2 cases developed Grade (I Arthritis, 2 cases developed Grade (II arthritis, 1 case developed superficial skin infection with medium nerve compression symptoms, 2 cases developed superficial skin infection which was resolved by continuous dressing on alternate days & 5 cases developed median nerve compression symptoms in which for 2 cases symptoms resolved with time, in rest 3 cases carpal Tunnel Decompression was done. Overall 63.3% result were excellent, 23.3% were good & 13.3% fair outcomes. The residual deformity was 0.70 the subjective score was 1.47 the objective score was 1.70, the total demerit score was as per modification Garland & Werley scoring groups (Mean values was 3.67. In all the cases, stainless steel plate was used. CONCLUSION In distal end radius fractures open reduction and internal fixation with volar locking compression plate followed by

  16. Laparoscopic radical nephroureterectomy: dilemma of the distal ureter.

    Science.gov (United States)

    Steinberg, Jordan R; Matin, Surena F

    2004-03-01

    Laparoscopic nephroureterectomy has recently emerged as a safe, minimally invasive approach to upper tract urothelial cancers. The most controversial and challenging feature of laparoscopic nephroureterectomy is the management of the distal ureter. We review the most common methods of managing the distal ureter, with emphasis on contemporary oncologic outcomes, indications, advantages, and disadvantages. There are currently in excess of five different approaches to the lower ureter. These techniques often combine features of endoscopic, laparoscopic, or open management. They include open excision, a transvesical laparoscopic detachment and ligation technique, laparoscopic stapling of the distal ureter and bladder cuff, the "pluck" technique, and ureteral intussusception. Each technique has distinct advantages and disadvantages, differing not only in technical approach, but oncological principles as well. While the existing published data do not overwhelmingly support one approach over the others, the open approach remains one of the most reliable and oncologically sound procedures. The principles of surgical oncology dictate that a complete, en-bloc resection, with avoidance of tumor seeding, remains the preferred treatment of all urothelial cancers. The classical open technique of securing the distal ureter and bladder cuff achieves this principle and has withstood the test of time. Transvesical laparoscopic detachment and ligation is an oncologically valid approach in patients without bladder tumors, but is limited by technical considerations. The laparoscopic stapling technique maintains a closed system but risks leaving behind ureteral and bladder cuff segments. Both transurethral resection of the ureteral orifice (pluck) and intussusception techniques should be approached with caution, as the potential for tumor seeding exists. Additional long-term comparative outcomes are needed to solve the dilemma of the distal ureter.

  17. Distal pancreatectomy and splenectomy: a robotic or LESS approach.

    Science.gov (United States)

    Ryan, Carrie E; Ross, Sharona B; Sukharamwala, Prashant B; Sadowitz, Benjamin D; Wood, Thomas W; Rosemurgy, Alexander S

    2015-01-01

    The role and application of robotic surgery are debated, particularly given the expansion of laparoscopy, especially laparoendoscopic single-site (LESS) surgery. This cohort study was undertaken to delineate differences in outcomes between LESS and robotic distal pancreatectomy and splenectomy. With Institutional Review Board approval, patients undergoing LESS or robotic distal pancreatectomy and splenectomy from September 1, 2012, through December 31, 2014, were prospectively observed, and data were collected. The results are expressed as the median, with the mean ± SD. Thirty-four patients underwent a minimally invasive distal pancreatectomy and splenectomy: 18 with robotic and 16 with LESS surgery. The patients were similar in sex, age, and body mass index. Conversions to open surgery and estimated blood loss were similar. There were two intraoperative complications in the group that underwent the robotic approach. Time spent in the operating room was significantly longer with the robot (297 vs 254 minutes, P = .03), although operative duration (i.e., incision to closure) was not longer (225 vs 190 minutes; P = .15). Of the operations studied, 79% were undertaken for neoplastic processes. Tumor size was 3.5 cm for both approaches; R0 resections were achieved in all patients. Length of stay was similar in the two study groups (5 vs 4 days). There was one 30-day readmission after robotic surgery. Patient outcomes are similar with LESS or robotic distal pancreatectomy and splenectomy. Robotic operations require more time in the operating room. Both are safe and efficacious minimally invasive operations that follow similar oncologic principles for similar tumors, and both should be in the surgeon's armamentarium for distal pancreatectomy and splenectomy.

  18. Thermosensing coordinates a cis-regulatory module for transcriptional activation of the intracellular virulence system in Salmonella enterica serovar Typhimurium.

    Science.gov (United States)

    Duong, Nancy; Osborne, Suzanne; Bustamante, Víctor H; Tomljenovic, Ana M; Puente, José L; Coombes, Brian K

    2007-11-23

    The expression of bacterial virulence genes is tightly controlled by the convergence of multiple extracellular signals. As a zoonotic pathogen, virulence gene regulation in Salmonella enterica serovar Typhimurium must be responsive to multiple cues from the general environment as well as from multiple niches within animal and human hosts. Previous work has identified combined magnesium and phosphate limitation as an environmental cue that activates genes required for intracellular virulence. One unanswered question is how virulence genes that are expressed within the host are inhibited in non-host environments that satisfy the phosphate and magnesium limitation cues. We report here that thermosensing is the major mechanism controlling incongruous activation of the intracellular virulence phenotype. Bacteria grown at 30 degrees C or lower were unable to activate the intracellular type III secretion system even under strong inducing signals such as synthetic medium, contact with macrophages, and exposure to the murine gut. Thermoregulation was fully recapitulated in a Salmonella bongori strain engineered to contain the intracellular virulence genes of S. enterica sv. Typhimurium, suggesting that orthologous thermoregulators were available. Accordingly, virulence gene repression at the nonpermissive temperature required Hha and H-NS, two nucleoid-like proteins involved in virulence gene control. The use of combined environmental cues to control transcriptional "logic gates" allows for transcriptional selectivity of virulence genes that would otherwise be superfluous if activated in the non-host environment. Thus, thermosensing by Salmonella provides integrated control of host niche-specific virulence factors.

  19. A conserved Shh cis-regulatory module highlights a common developmental origin of unpaired and paired fins.

    Science.gov (United States)

    Letelier, Joaquín; de la Calle-Mustienes, Elisa; Pieretti, Joyce; Naranjo, Silvia; Maeso, Ignacio; Nakamura, Tetsuya; Pascual-Anaya, Juan; Shubin, Neil H; Schneider, Igor; Martinez-Morales, Juan Ramón; Gómez-Skarmeta, José Luis

    2018-03-19

    Despite their evolutionary, developmental and functional importance, the origin of vertebrate paired appendages remains uncertain. In mice, a single enhancer termed ZRS is solely responsible for Shh expression in limbs. Here, zebrafish and mouse transgenic assays trace the functional equivalence of ZRS across the gnathostome phylogeny. CRISPR/Cas9-mediated deletion of the medaka (Oryzias latipes) ZRS and enhancer assays identify the existence of ZRS shadow enhancers in both teleost and human genomes. Deletion of both ZRS and shadow ZRS abolishes shh expression and completely truncates pectoral fin formation. Strikingly, deletion of ZRS results in an almost complete ablation of the dorsal fin. This finding indicates that a ZRS-Shh regulatory module is shared by paired and median fins and that paired fins likely emerged by the co-option of developmental programs established in the median fins of stem gnathostomes. Shh function was later reinforced in pectoral fin development with the recruitment of shadow enhancers, conferring additional robustness.

  20. Transcription factor trapping by RNA in gene regulatory elements.

    Science.gov (United States)

    Sigova, Alla A; Abraham, Brian J; Ji, Xiong; Molinie, Benoit; Hannett, Nancy M; Guo, Yang Eric; Jangi, Mohini; Giallourakis, Cosmas C; Sharp, Phillip A; Young, Richard A

    2015-11-20

    Transcription factors (TFs) bind specific sequences in promoter-proximal and -distal DNA elements to regulate gene transcription. RNA is transcribed from both of these DNA elements, and some DNA binding TFs bind RNA. Hence, RNA transcribed from regulatory elements may contribute to stable TF occupancy at these sites. We show that the ubiquitously expressed TF Yin-Yang 1 (YY1) binds to both gene regulatory elements and their associated RNA species across the entire genome. Reduced transcription of regulatory elements diminishes YY1 occupancy, whereas artificial tethering of RNA enhances YY1 occupancy at these elements. We propose that RNA makes a modest but important contribution to the maintenance of certain TFs at gene regulatory elements and suggest that transcription of regulatory elements produces a positive-feedback loop that contributes to the stability of gene expression programs. Copyright © 2015, American Association for the Advancement of Science.

  1. Setscrew distal locking for intramedullary nails: a biomechanical study.

    Science.gov (United States)

    Köse, N; Günal, I; Wang, X; Athanasiou, K A; Agrawal, C M; Mabrey, J D

    2000-08-01

    This biomechanical study was undertaken to examine the effectiveness of setscrew distal locking in a static intramedullary (IM) femoral nail on the stability of fixation of femoral shaft fractures. Fifteen fresh-frozen cadeveric femora were randomly separated into three groups of five bones and transversely sectioned immediately distal to the isthmus. After the insertion of the large-diameter nails, distal locking was obtained by conventional method in the first group. In the second group, set-screw design was used in which two transverse screws penetrated only the lateral cortex of the femur and compressed the nail in the intramedullary canal. No distal locking was used in the third group. All instrumented femurs were mounted on a servohydraulic testing machine and tested in both rotations (20 degrees) and axial compression (amplitude: 1,000 Newton). Loading-versus-displacement data, acquired at a ten-Hertz sampling rate, were calibrated and used to calculate maximum torque, stiffness, and energy capacity to failure. Maximum displacement and axial stiffness also were determined. Mean maximum torque at 10 degrees for each group were 15.3+/-4.8 newton-meters for the interlocking group, 8.5 +/-1.2 newton-meters for the setscrew group, and 3.6+/-2.7 newton-meters for the nonlocked femora. At 20 degrees of rotational displacement, the torque measured 37.4+/-2.6 newton-meters; 15.0+/-4.0 newton-meters; and 5.3+/-3.1 newton-meters, respectively (p 0.05). The setscrew design provided 87 percent of the torsional rigidity of the interlocking group. In the axial compression test, mean maximum shortening was 1.1+/-0.3 millimeters in the interlocking group and 1.4+/-0.6 millimeters in the setscrew group (p > 0.05). The mean stiffness on longitudinal compression provided by the interlocking screws and the setscrews was 918 and 860 newton-meters per millimeter, respectively. The distal setscrew design provides adequate distal fixation of intramedullary nail for patients in the

  2. Biomechanical comparison of orthogonal versus parallel double plating systems in intraarticular distal humerus fractures

    Directory of Open Access Journals (Sweden)

    Ata C. Atalar

    2017-01-01

    Conclusion: Our study showed that both plating systems had similar biomechanical stabilities when anatomic plates with distal locking screws were used in intraarticular distal humerus fractures in artificial humerus models.

  3. Multicentre prospective evaluation of implant-assisted mandibular bilateral distal extension removable partial dentures: patient satisfaction

    NARCIS (Netherlands)

    Wismeijer, D.; Tawse-Smith, A.; Payne, A.G.T.

    2013-01-01

    Objective To compare the levels of patient satisfaction with either conventional mandibular bilateral distal extension partial dentures or those assisted by bilateral distal implants. Materials and methods Forty-eight participants who were dissatisfied with their existing conventional mandibular

  4. Minimally invasive versus open distal pancreatectomy (LEOPARD) : Study protocol for a randomized controlled trial

    NARCIS (Netherlands)

    de Rooij, Thijs; van Hilst, Jony; Vogel, Jantien A.; van Santvoort, Hjalmar C.; de Boer, Marieke T.; Boerma, Djamila; van den Boezem, Peter B.; Bonsing, Bert A.; Bosscha, Koop; Coene, Peter-Paul; Daams, Freek; van Dam, Ronald M.; Dijkgraaf, Marcel G.; van Eijck, Casper H.; Festen, Sebastiaan; Gerhards, Michael F.; Koerkamp, Bas Groot; Hagendoorn, Jeroen; van der Harst, Erwin; de Hingh, Ignace H.; Dejong, Cees H.; Kazemier, Geert; Klaase, Joost; de Kleine, Ruben H.; van Laarhoven, Cornelis J.; Lips, Daan J.; Luyer, Misha D.; Molenaar, I. Quintus; Nieuwenhuijs, Vincent B.; Patijn, Gijs A.; Roos, Daphne; Scheepers, Joris J.; van der Schelling, George P.; Steenvoorde, Pascal; Swijnenburg, Rutger-Jan; Wijsman, Jan H.; Abu Hilal, Moh'd; Busch, Olivier R.; Besselink, Marc G.

    2017-01-01

    Background: Observational cohort studies have suggested that minimally invasive distal pancreatectomy (MIDP) is associated with better short-term outcomes compared with open distal pancreatectomy (ODP), such as less intraoperative blood loss, lower morbidity, shorter length of hospital stay, and

  5. Multicenter comparative study of laparoscopic and open distal pancreatectomy using propensity score-matching.

    Science.gov (United States)

    Nakamura, Masafumi; Wakabayashi, Go; Miyasaka, Yoshihiro; Tanaka, Masao; Morikawa, Takanori; Unno, Michiaki; Tajima, Hiroshi; Kumamoto, Yusuke; Satoi, Sohei; Kwon, Masanori; Toyama, Hirochika; Ku, Yonson; Yoshitomi, Hideyuki; Nara, Satoshi; Shimada, Kazuaki; Yokoyama, Takahide; Miyagawa, Shinichi; Toyama, Yoichi; Yanaga, Katsuhiko; Fujii, Tsutomu; Kodera, Yasuhiro; Tomiyama, Yasuyuki; Miyata, Hiroaki; Takahara, Takeshi; Beppu, Toru; Yamaue, Hiroki; Miyazaki, Masaru; Takada, Tadahiro

    2015-10-01

    Laparoscopic distal pancreatectomy has been shown to be associated with favorable postoperative outcomes using meta-analysis. However, there have been no randomized controlled studies yet. This study aimed to compare laparoscopic and open distal pancreatectomy using propensity score-matching. We retrospectively collected perioperative data of 2,266 patients who underwent distal pancreatectomy in 69 institutes from 2006-2013 in Japan. Among them, 2,010 patients were enrolled in this study and divided into two groups, laparoscopic distal pancreatectomy and open distal pancreatectomy. Perioperative outcomes were compared between the groups using unmatched and propensity matched analysis. After propensity score-matching, laparoscopic distal pancreatectomy was associated with favorable perioperative outcomes compared with open distal pancreatectomy, including higher rate of preservation of spleen and splenic vessels (P pancreatectomy was associated with more favorable perioperative outcomes than open distal pancreatectomy. © 2015 Japanese Society of Hepato-Biliary-Pancreatic Surgery.

  6. Plate fixation and bone grafting of distal clavicle nonunions: radiologic and functional outcomes

    NARCIS (Netherlands)

    Villa, Jordan C.; van der List, Jelle P.; Gausden, Elizabeth B.; Lorich, Dean G.; Helfet, David L.; Kloen, Peter; Wellman, David S.

    2016-01-01

    The optimal treatment for distal clavicle nonunions remains unknown. Small series have reported outcomes following distal fragment excision and various fixation techniques. We present the clinical, radiographic and functional outcomes after superior plating or double (superior and anteroinferior)

  7. Arabidopsis EDM2 promotes IBM1 distal polyadenylation and regulates genome DNA methylation patterns.

    Science.gov (United States)

    Lei, Mingguang; La, Honggui; Lu, Kun; Wang, Pengcheng; Miki, Daisuke; Ren, Zhizhong; Duan, Cheng-Guo; Wang, Xingang; Tang, Kai; Zeng, Liang; Yang, Lan; Zhang, Heng; Nie, Wenfeng; Liu, Pan; Zhou, Jianping; Liu, Renyi; Zhong, Yingli; Liu, Dong; Zhu, Jian-Kang

    2014-01-07

    DNA methylation is important for the silencing of transposons and other repetitive elements in many higher eukaryotes. However, plant and mammalian genomes have evolved to contain repetitive elements near or inside their genes. How these genes are kept from being silenced by DNA methylation is not well understood. A forward genetics screen led to the identification of the putative chromatin regulator Enhanced Downy Mildew 2 (EDM2) as a cellular antisilencing factor and regulator of genome DNA methylation patterns. EDM2 contains a composite Plant Homeo Domain that recognizes both active and repressive histone methylation marks at the intronic repeat elements in genes such as the Histone 3 lysine 9 demethylase gene Increase in BONSAI Methylation 1 (IBM1) and is necessary for maintaining the expression of these genes by promoting mRNA distal polyadenylation. Because of its role in maintaining IBM1 expression, EDM2 is required for preventing CHG methylation in the bodies of thousands of genes. Our results thus increase the understanding of antisilencing, genome methylation patterns, and regulation of alternative RNA processing by intronic heterochromatin.

  8. Repair of chronic distal biceps brachii tendon rupture using free autogenous semitendinosus tendon.

    Science.gov (United States)

    Hang, D W; Bach, B R; Bojchuk, J

    1996-02-01

    Distal biceps brachii tendon ruptures occur much less frequently than do their proximal counterparts. Distal tendon ruptures usually are associated with considerable function deficits and may require surgical treatment. Repair of chronic distal biceps brachii ruptures are extremely unusual. A free autogenous semitendinosus tendon graft was used to reconstruct the distal biceps tendon by reattaching the graft to the radial tuberosity via a 2-incision technique in a patient with symptoms and a chronic injury.

  9. Minimally invasive osteosynthesis of distal tibial fractures using anterolateral locking plate: Evaluation of results and complications

    OpenAIRE

    Lakhotia, Devendra; Sharma, Gaurav; Khatri, Kavin; Kumar, G.N. Kiran; Sharma, Vijay; Farooque, Kamran

    2016-01-01

    Purpose Soft tissue healing is of paramount importance in distal tibial fractures for a successful outcome. There is an increasing trend of using anterolateral plate due to an adequate soft tissue cover on anterolateral distal tibia. The aim of this study was to evaluate the results and complications of minimally invasive anterolateral locking plate in distal tibial fractures. Methods This is a retrospective study of 42 patients with distal tibial fractures treated with minimally invasive ant...

  10. Retrograde nailing for distal femur fractures in the elderly

    Directory of Open Access Journals (Sweden)

    Giddie Jasdeep

    2015-01-01

    Full Text Available Introduction: We report the results of treating a series of 56 fractures in 54 elderly patients with a distal femur fracture with a retrograde femoral nail. Methods: Fifty-four of the nails were inserted percutaneously with a closed reduction. After surgery all patients were allowed to weight bear as tolerated. Four fractures were supported in a temporary external splint. Results: The mean age of patients was 80.6 years (range 51–103 years, 52/54 (96% were females. There were no cases of nail related complications and no re-operations were required. One patient was lost to follow up. The 30-day mortality was 5/54 (9.3% and the one year mortality was 17/54 (31.5%. Conclusions: Distal femoral nail fixation provides a good method of fixation allowing immediate mobilisation for this group of patients.

  11. Unravelling intention: distal intentions increase the subjective sense of agency.

    Science.gov (United States)

    Vinding, Mikkel C; Pedersen, Michael N; Overgaard, Morten

    2013-09-01

    Experimental studies investigating the contribution of conscious intention to the generation of a sense of agency for one's own actions tend to rely upon a narrow definition of intention. Often it is operationalized as the conscious sensation of wanting to move right before movement. Existing results and discussion are therefore missing crucial aspects of intentions, namely intention as the conscious sensation of wanting to move in advance of the movement. In the present experiment we used an intentional binding paradigm, in which we distinguished between immediate (proximal) intention, as usually investigated, and longer standing (distal) intention. The results showed that the binding effect was significantly enhanced for distal intentions compared to proximal intentions, indicating that the former leads to stronger sense of agency. Our finding provides empirical support for a crucial distinction between at least two types of intention when addressing the efficacy of conscious intentions. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Pendulum Therapy of Molar Distalization in Mixed Dentition.

    Science.gov (United States)

    Patil, Raju Umaji; Prakash, Amit; Agarwal, Anshu

    2016-01-01

    Early and timely pedo-orthodontic treatment is aimed at eliminating the disturbances of skeletal or dentoalveolar development, to harmonize the stomatognathic system before the full eruption of all permanent teeth. The advantages of pendulum appliance are its minimal dependence on patient's compliance (child cooperation), ease of fabrication, onetime activation and adjustment of the springs if necessary to correct minor transverse and vertical molar positions. This article reports a successful treatment method of class II malocclusion with pendulum appliance in mixed dentition phase. Distalization of maxillary molar was done, followed by guidance of canine impaction orthodontically and other dental correction using 0.022 MBT appliances. Posttreatment results were stable and remarkable. How to cite this article: Patil RU, Prakash A, Agarwal A. Pendulum Therapy of Molar Distalization in Mixed Dentition. Int J Clin Pediatr Dent 2016;9(1):67-73.

  13. A Triplane Fracture of The Distal Femoral Epiphysis. RA Gosselin et ...

    African Journals Online (AJOL)

    user

    2005-12-02

    Dec 2, 2005 ... triplane fracture was described for the distal tibial physis, and is presumed to result from a combination of shear and rotational stresses on the incompletely fused growth plate15,16. Triplane fractures have also been described for other epiphyses: proximal tibia17, distal humerus18, distal radius19, and in ...

  14. Impact of a Nationwide Training Program in Minimally Invasive Distal Pancreatectomy (LAELAPS)

    NARCIS (Netherlands)

    de Rooij, Thijs; van Hilst, Jony; Boerma, Djamila; Bonsing, Bert A.; Daams, Freek; van Dam, Ronald M.; Dijkgraaf, Marcel G.; van Eijck, Casper H.; Festen, Sebastiaan; Gerhards, Michael F.; Koerkamp, Bas Groot; van der Harst, Erwin; de Hingh, Ignace H.; Kazemier, Geert; Klaase, Joost; de Kleine, Ruben H.; van Laarhoven, Cornelis J.; Lips, Daan J.; Luyer, Misha D.; Molenaar, I. Quintus; Patijn, Gijs A.; Roos, Daphne; Scheepers, Joris J.; van der Schelling, George P.; Steenvoorde, Pascal; Vriens, Menno R.; Wijsman, Jan H.; Gouma, Dirk J.; Busch, Olivier R.; Hilal, Mohammed Abu; Besselink, Marc G.; de Boer, Marieke T.

    2016-01-01

    Objective:To study the feasibility and impact of a nationwide training program in minimally invasive distal pancreatectomy (MIDP).Summary of Background Data:Superior outcomes of MIDP compared with open distal pancreatectomy have been reported. In the Netherlands (2005 to 2013) only 10% of distal

  15. Cost-effectiveness of laparoscopic versus open distal pancreatectomy for pancreatic cancer

    NARCIS (Netherlands)

    Gurusamy, Kurinchi Selvan; Riviere, Deniece; van Laarhoven, C. J. H.; Besselink, Marc; Abu-Hilal, Mohammed; Davidson, Brian R.; Morris, Steve

    2017-01-01

    A recent Cochrane review compared laparoscopic versus open distal pancreatectomy for people with for cancers of the body and tail of the pancreas and found that laparoscopic distal pancreatectomy may reduce the length of hospital stay. We compared the cost-effectiveness of laparoscopic distal

  16. Dual-port distal gastrectomy for the early gastric cancer

    OpenAIRE

    Kashiwagi, Hiroyuki; Kumagai, Kenta; Monma, Eiji; Nozue, Mutsumi

    2014-01-01

    Background Although recent trends in laparoscopic procedures have been toward minimizing the number of incisions, four or five ports are normally required to complete laparoscopic gastrectomy because of the complexity of this procedure. Multi-channel ports, such as the SILS port (Covidien, JAPAN), are now available and are crucial for performing single-incision laparoscopic surgery (SILS) or reduced port surgery (RPS). We carried out reduced port distal gastrectomy (RPDG) using a dual-port me...

  17. DISTAL SPLENORENAL VENOUS ANASTOMOSIS IN TREATMENT OF DIABETES MELLITUS

    Directory of Open Access Journals (Sweden)

    T. I. Shraer

    2010-01-01

    Full Text Available We studied the outcomes of the operations for distal splenorenal venous anastomosis of 134 patients with type 1 diabetes mellitus. We have noticed the significant improvement of patient’s general condition due to spasmolytic effect of glucagon, bypassed to blood circulation without coming through liver and also a stabilization of glyce- mia because of a restoration of insulin-glucagon ratio in systemic circulation. The effect of a surgery depends on a stage of microangiopathy and nephrosclerosis. 

  18. Anatomical Measurements of the Distal Clavicle in a Kenyan ...

    African Journals Online (AJOL)

    The superoinferior thickness of the distal end was measured using a vernier caliper. The mean clavicle length was 148.57±12.63mm. The left clavicle was longer (150.4mm) than the right one (146.8mm). Conoid tubercle (CT) and trapezoid tuberosity (TT) were 39.52±5.93mm and 17.96±3.42mm respectively from the lateral ...

  19. Haematoma block in reduction of distal radial fractures

    African Journals Online (AJOL)

    radiale distale déplace'e entre janvier 2000 et mars 2001 avaient la reduction de la fracture sous l'obstruction he'matome tout en utili- sant 10ml de 2% lignocaine. ' H y avait une remise importante de la douleur a la suite d'in- filtration de la lignocaine sous la région de la fracture et un soula- gement important au cours de ...

  20. FUNCTIONAL OUTCOMES AFTER DISTAL BICEPS BRACHII REPAIR: A CASE SERIES.

    Science.gov (United States)

    Redmond, Christine L; Morris, Tim; Otto, Charissa; Zerella, Tanisha; Semmler, John G; Human, Taaibos; Phadnis, Joideep; Bain, Gregory I

    2016-12-01

    To investigate outcomes after surgical repair of distal biceps tendon rupture and the influence of arm dominance on isokinetic flexion and supination results. While relatively uncommon, rupture of the distal biceps tendon can result in significant strength deficits, for which surgical repair is recommended. The purpose of this study was to assess patient reported functional outcomes and muscle performance following surgery. A sample of 23 participants (22 males, 1 female), who had previously undergone surgical repair of the distal biceps tendon, were re-examined at a minimum of one year after surgery. Biodex isokinetic elbow flexion and supination testing was performed to assess strength (as measured by peak torque) and endurance (as measured by total work and work fatigue). The Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) and Mayo Elbow Performance Scale (MEPS) were used to assess participants' subjectively reported functional recovery. At a mean of 7.6 years after surgical repair, there were no differences between the repaired and uninvolved elbows in peak torque ( p  = 0.47) or total work ( p  = 0.60) for flexion or supination. There was also no difference in elbow flexion work fatigue ( p  = 0.22). However, there was significantly less work fatigue in supination, which was likely influenced by arm dominance, as most repairs were to the dominant arm, F (1,22)=5.67, p  = 0.03. The long-term strength of the repaired elbow was similar to the uninvolved elbow after surgery to the distal biceps tendon. Endurance of the repaired elbow was similar in flexion but greater in supination, probably influenced by arm dominance. Retrospective case series. Level 4.

  1. Squamous Cell Carcinoma of the Distal Common Bile Duct

    OpenAIRE

    Jain A; Juneja M; Naik S; Sharma S; Kapoor S; Sewkani A; Varshney S

    2005-01-01

    CONTEXT: Squamous cell carcinoma of the biliary tree is rare. Although few cases of squamous cell carcinoma of the intrahepatic bile-duct and gallbladder have been reported, until today, only four cases of squamous cell carcinoma of the extrahepatic bile duct have been reported in the literature. CASE REPORT: We present a case of squamous cell carcinoma of the distal common bile duct presenting with obstructive jaundice in a 60-year-old male which was successfully managed by a Whipple's pancr...

  2. Characterisation of osseous bodies of the distal phalanx of foals

    International Nuclear Information System (INIS)

    Kaneps, A.J.; O'Brien, T.R.; Redden, R.F.; Stover, S.M.; Pool, R.R.

    1993-01-01

    The distal phalanx and metacarpal physis of both forelimbs of 32 Thoroughbred foals 3-32 weeks of age were radiographed to identify those limbs with osseous bodies at a palmar process (PP) of the distal phalanx. Osseous bodies (ossicles) were identified radiographically in 19% of the foals. Sixteen of the 32 foals were selected for microradiographic and histological evaluation: 6 foals with radiographic evidence of ossicles and 10 foals without. Fourteen ossicles of the PP were observed radiographically. Ossicles were either a triangular bone fragment at the palmar aspect of the distal angle of the PP, or an oblong bone fragment separated from P3 by a radiolucent line extending 1-3 cm from the incisure of the PP to the solar margin. One foal had radiographic evidence of bilateral distal metacarpal physitis. Seventeen of 35 PPs examined microradiographically were considered normal, in that the dorsal and solar cortices were thin with trabecular bone orientated parallel to the cortical surfaces, and there was a depression in the dorsal cortical surface (i.e. parietal sulcus). Abnormal microradiographic findings in the other 18 PPs included a fracture line extending from the dorsal cortical surfaces and trabecular bridging of the fracture gap. The fracture line was often continuous with the parietal sulcus. Microradiographic evidence of a fracture was found in 75% of foals evaluated. Normal histological findings in 16 PPs included thin dorsal and solar cortices with trabeculae orientated parallel to the cortical surfaces, parallel-fibred dense connective tissue attachments of the deep digital flexor tendon to the solar cortical surfaces, and a neurovascular bundle associated with the parietal sulcus

  3. Transosseous-Equivalent Repair for Distal Patellar Tendon Avulsion

    OpenAIRE

    Galos, David K.; Konda, Sanjit R.; Kaplan, Daniel J.; Ryan, William E.; Alaia, Michael J.

    2016-01-01

    Extensor mechanism disruptions are relatively uncommon injuries involving injury to the quadriceps tendon, patella, or patellar tendon. Patellar tendon avulsions from the tibial tubercle in adults are rare; as such, little technical information has been written regarding surgical management of this injury in the adult. Transosseous-equivalent repairs have been described in the management of several types of tendon ruptures, including rotator cuff and distal triceps tendon ruptures, but not pr...

  4. The most preferable method for distal hypospadias surgery: TIPU Technique

    OpenAIRE

    ARSLAN, Mehmet Şerif; KÖKSAL, Ersin; YILDIZ, Turan; ÖZALP, Leyla TEKŞAN; KAYA, Cengiz

    2013-01-01

    The purpose of this study is to demonstrate the efficiency of tubularized incised-plate urethroplasty (TIPU) method and the complication rates with postoperative early periodical urethral dilatations. Hypospadias is one of the most common congenital anomaly in male genital system. Retrospectively 45 case’s records which had distal hypospadias and undergone surgery were studied in Samsun Obstetrics and Gynecology and Children’s Hospital. The ages of the patients, their meatus locations, cordi ...

  5. Hereditary distal spinal muscular atrophy with vocal cord paralysis.

    OpenAIRE

    Young, I D; Harper, P S

    1980-01-01

    A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially hazardous feature. No previous report of this condition has been found.

  6. Epidemiology of distal forearm fractures in Oslo, Norway.

    Science.gov (United States)

    Lofthus, C M; Frihagen, F; Meyer, H E; Nordsletten, L; Melhuus, K; Falch, J A

    2008-06-01

    The population of Oslo has the highest incidence of hip fracture reported. The present study shows that the overall incidence of distal forearm fractures in Oslo is higher than in other countries and has not changed significantly when comparing the incidence of 1998/99 with 1979. The population of Oslo has the highest incidence of hip fracture reported. The present study reports the incidence of distal forearm fracture in Oslo and the fracture rates of immigrants. Patients aged > or = 20 years resident in Oslo sustaining a distal forearm fracture in a one-year period in 1998/99 were identified using electronic diagnosis registers, patient protocols, and/or X-ray registers of the clinics in Oslo. Medical records were obtained and the diagnosis verified. The age- and sex-specific incidence rates were calculated and compared with those for 1979. Data on immigrant category and country of origin of the patients were obtained. The age-adjusted fracture rates per 10,000 for the age group > or = 50 years were 109.8 and 25.4 in 1998/99 compared with 108.3 and 23.5 in 1979 for women and men, respectively (n.s.). The relative risk of fracture in Asians was 0.72 (95% CI 0.53-1.00) compared with ethnic Norwegians. The overall incidence of distal forearm fractures in Oslo is higher than in other countries and has not changed significantly when comparing the incidence of 1998/99 with 1979. Furthermore, the present data suggest that Asian immigrants in Oslo have a slightly lower fracture risk than ethnic Norwegians.

  7. A new total distal radioulnar joint prosthesis: functional outcome.

    Science.gov (United States)

    Schuurman, Arnold H; Teunis, Teun

    2010-10-01

    To present the evolution of design and the short-term functional outcome of our distal radioulnar joint (DRUJ) prosthesis. This total DRUJ prosthesis differs from others in that it consists of 2 parts and attains bony fixation by its hydroxyapatite coating. Nineteen patients received a DRUJ prosthesis after a failed Darrach procedure (n = 10), Sauvé-Kapandji procedure (n = 7), trauma (n = 1), or DRUJ synovitis (n = 1). Indications for the placement were decreased grip, decreased forearm motion, and pain due to ulnar impingement syndrome and instability of the distal ulna. Seven prostheses were removed, 5 due to loosening, 1 due to continuing pain, and 1 at the request of the patient. The 5 prostheses that loosened were an intermediate prototype no longer in use. In 12 remaining cases, range of motion, grip strength, and pinch strength were measured, and patients completed the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire. Pain was assessed with the visual analog scale (range, 0-10). A paired t-test was performed to assess the significance of the difference between preoperative and postoperative measurements. Statistically significant improvements were seen in forearm pronation, from an average of 79° to 88°; grip strength, from an average of 10 kg to an average of 16 kg; and visual analog scale score, decreased from a mean of 5.3 to a mean of 3.5. The distal ulna was clinically stable in all 12 patients who retained the prosthesis. The intermediate prototype had a high failure rate, 5 out of 5. The early results for the current prosthesis prototype show clinical improvement. Based on these results, we conclude that this prosthesis offers a new treatment option for ulnar instability after distal ulnar resection. Therapeutic IV. Copyright © 2010. Published by Elsevier Inc.

  8. Minimally invasive plate osteosynthesis for distal radius fractures

    Directory of Open Access Journals (Sweden)

    Xu-ming Wei

    2014-01-01

    Full Text Available Background: Fractures of distal radius are common injury in all age groups. Cast treatment with or without close reduction is a viable option. However, the results are often unsatisfactory with restricted function. The open reduction and internal fixation often results in extensive soft tissue dissection and associated high rates of infection and delayed/nonunion. The distractor/external fixator have reported good functional and anatomical results but the incidence of pin traction infection nerve injury and cosmedic deformity are high. We introduced a modified operative technique for minimally invasive plate osteosynthesis (MIPO for distal radial fracture and evaluated the functional outcomes and complications. Materials and Methods: 22 distal radial fractures (10 left, 12 right were treated using the MIPO technique and two small incisions with a palmar locking plate from August 2009 to August 2010. The wrist function was assessed according to Dienst wrist rating system, and postoperative complications were recorded. Results: According to Dienst wrist rating system, 13 patients showed excellent results, 6 cases showed good results and 3 patients had moderate results. No patient had poor results. Thus, the excellent and good rate was 86.4%. One patient had anesthesia in the thenar eminence and this symptom disappeared after 3 months. One patient had delayed healing in the proximal wrist crease. Two patients had mild pain on the ulnar side of the wrist and two patients had limited wrist joint function. Conclusion: The MIPO technique by using two small palmar incisions is safe and effective for treatment of distal radial fractures.

  9. External jig in the placement of distal interlocking screws | Ikem ...

    African Journals Online (AJOL)

    Retrograde (52.2%) was the commonest surgical approach used for femur. The main indication for SIGN interlocking surgery was recent fracture 77.8%. Open reduction 97.8% was the commonest method of reduction used. The mean±SD bone union time was 3.58±0.56 months and range 3-5 months. Distal screw insertion ...

  10. Equine distal limb wounds: new and emerging treatments.

    Science.gov (United States)

    Alford, Christopher G; Caldwell, Fred J; Hanson, Reid

    2012-07-01

    Distal limb wounds occur commonly in horses, and treatment can be frustrating for owners and veterinarians. Caring for these wounds is often very expensive, labor intensive, and prolonged. Many commercial products and clinical techniques have been developed to help treat these wounds. Healing of these wounds depends on many factors. With proper wound evaluation and treatment, affected horses can return to function sooner than in the past.

  11. [Stress fractures of the distal fibula in an osteoporotic woman].

    Science.gov (United States)

    Schwartz, Frederik; Heerfordt, Ida Marie

    2014-08-04

    We report a case of an 81-year-old osteoporotic woman, who suffered stress fractures of the distal fibula on both sides within a two-year period. The risk factors for stress fractures are reviewed and the importance of a high index of suspicion for stress fractures is emphasized. When a stress fracture is suspected it should lead to plain radiography and treatment with protected weight-bearing with crutches or a brace.

  12. Analysis of preoperative antibiotic prophylaxis in stented, distal hypospadias repair.

    Science.gov (United States)

    Smith, Jacob; Patel, Ashay; Zamilpa, Ismael; Bai, Shasha; Alliston, Jeffrey; Canon, Stephen

    2017-04-01

    Surgical site infection [SSI] is a risk for any surgical procedure, including hypospadias repair. Prophylactic antibiotic therapy for patients having surgery is often effective in preventing SSIs, but with increasing rates of antibiotic resistance, this practice has been questioned. The objectives of this study are 1) to assess the incidence of SSIs in patients following stented, distal hypospadias repair and 2) to observe for any potential difference in the incidence of SSIs for patients with and without preoperative antibiotic utilization in this setting. We retrospectively reviewed consecutive patients treated with stented, distal hypospadias repair from 2011 to 2014 by three surgeons and compared two groups: patients who received preoperative antibiotics and patients who did not. Patients with a history of previous hypospadias repair were excluded from the study. Two hundred twenty-four subjects were identified. Group 1 (135) received preoperative antibiotic and Group 2 (89) did not receive preoperative antibiotics. There was no statistically significant difference in SSI prevalence with 0 patients in Group 1 and 1 patient in Group 2 having a SSI. Although prophylactic antibiotics prior to hypospadias repair are most often used by pediatric urologists, this study demonstrates further evidence that antibiotics prior to this procedure do not appear to lower the rate of SSI. This study is limited by its retrospective nature and disparate mean follow up in the two cohorts. Surgical site infection does not appear to be decreased by prophylactic antibiotic therapy before distal hypospadias repair.

  13. Distal biceps brachii tendon anatomy revisited from a surgical perspective.

    Science.gov (United States)

    Fogg, Quentin A; Hess, Benjamin R; Rodgers, K Gary; Ashwood, Neil

    2009-04-01

    The distal biceps brachii tendon is commonly susceptible to traumatic injury. This study aimed to describe the morphology of the distal biceps brachii tendon in relation to the commonly used endobutton repair of tendon rupture. The results suggested that the distal tendon is a series of distinct bands of variable number. These bands are obscured surgically by the tendon sheath. Upon opening this sheath, blunt dissection of the tendon released fibrous connections between the tendon bands. Adjacent bands were variably connected via small oblique bands. The separations between bands were continuous onto the radius. They were therefore considered as separate force-conducting units. This notion is of high relevance to endobutton repairs, as the sutures are typically only passed through the margins of the tendon. Where few connections exist between tendinous bands, this represents a potential weakness, as central bands are therefore free to be pulled proximally. This is of primary concern in the early rehabilitative stages of postoperative care. It may be suggested that sutures that cross the width of the tendon will eliminate the give of central bands, improving postoperative results, reducing revision numbers, and potentially reducing rehabilitation time. (c) 2009 Wiley-Liss, Inc.

  14. Laparoscopic distal pancreatectomy for adenocarcinoma of the pancreas

    Science.gov (United States)

    Björnsson, Bergthor; Sandström, Per

    2014-01-01

    Since the first report on laparoscopic distal pancreatectomy (LDP) appeared in the 1990s, the procedure has been performed increasingly frequently to treat both benign and malignant lesions of the pancreas. Many earlier publications have shown LDP to be a good alternative to open distal pancreatectomy for benign lesions, although this has never been studied in a prospective, randomized manner. The evidence for the use of LDP to treat adenocarcinoma of the pancreas is not as well established. The purpose of this review is to evaluate the current evidence for LDP in cases of pancreatic adenocarcinoma. We conducted a review of English language publications reporting LDP results between 1990 and 2013. All studies reporting results in patients with histologically proven pancreatic adenocarcinoma were included. Thirty-nine publications were found and included in the results for a total of 309 cases of pancreatic adenocarcinoma (potential double publications were not eliminated). Most LDP procedures are performed in selected cases and generally involve smaller tumors than open distal pancreatectomy (ODP) procedures. Some of the papers report unselected cases and include procedures on larger tumors. The number of lymph nodes harvested using LDP is comparable to the number obtained with ODP, as is the frequency of R0 resections. Current data suggest that similar short term oncological results can be obtained using LDP as those obtained using ODP. PMID:25309072

  15. Importance of early audiologic assessment in distal renal tubular acidosis

    Directory of Open Access Journals (Sweden)

    Elizabeth Norgett

    2010-12-01

    Full Text Available Anand P Swayamprakasam1, Elizabeth Stover1, Elizabeth Norgett1, Katherine G Blake-Palmer1, Michael J Cunningham2, Fiona E Karet11Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, UK; 2Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, USAAbstract: Autosomal recessive distal renal tubular acidosis is usually a severe disease of childhood, often presenting as failure to thrive in infancy. It is often, but not always, accompanied by sensorineural hearing loss, the clinical severity and age of onset of which may be different from the other clinical features. Mutations in either ATP6V1B1 or ATP6V0A4 are the chief causes of primary distal renal tubular acidosis with or without hearing loss, although the loss is often milder in the latter. We describe a kindred with compound heterozygous alterations in ATP6V0A4, where hearing loss was formally diagnosed late in both siblings such that they missed early opportunities for hearing support. This kindred highlights the importance of routine audiologic assessments of all children with distal renal tubular acidosis, irrespective either of age at diagnosis or of which gene is mutated. In addition, when diagnostic genetic testing is undertaken, both genes should be screened irrespective of current hearing status. A strategy for this is outlined.Keywords: sensorineural hearing loss, renal tubular acidosis, recessive, genetics, mutation

  16. Distal femoral complications following antegrade intramedullary nail placement

    Directory of Open Access Journals (Sweden)

    Amanda J. Fantry

    2015-03-01

    Full Text Available While antegrade nailing for proximal and diaphyseal femur fractures is a commonly utilized fixation method with benefits including early mobilization and high rates of fracture union, both intraoperative and postoperative complications may occur. Intraoperative errors include leg length discrepancy, anterior cortical perforation, malreduction of the fracture, and neurovascular injury, and postoperative complications include nonunion, malunion, infection, and hardware failure. This case series reviews complications affecting the distal femur after intramedullary nailing including fracture surrounding a distal femoral interlocking screw (Case #1, nonunion after dynamization with nail penetration into the knee joint (Case #2, and anterior cortical perforation (Case #3. Prevention of intraoperative and postoperative complications surrounding intramedullary nailing requires careful study of the femoral anatomy and nail design specifications (radius of curvature, consideration of the necessity of distal interlocking screws, the need for close radiographic follow-up after nail placement with X-rays of the entire length of the nail, and awareness of possible nail penetration into the knee joint after dynamization.

  17. Distal histidine conformational flexibility in dehaloperoxidase from Amphitrite ornata.

    Science.gov (United States)

    Chen, Zuxu; de Serrano, Vesna; Betts, Laurie; Franzen, Stefan

    2009-01-01

    The enzyme dehaloperoxidase (DHP) from the terebellid polychaete Amphitrite ornata is a heme protein which has a globin fold but can function as both a hemoglobin and a peroxidase. As a peroxidase, DHP is capable of converting 2,4,6-trihalophenols to the corresponding 2,6-dihaloquinones in the presence of hydrogen peroxide. As a hemoglobin, DHP cycles between the oxy and deoxy states as it reversibly binds oxygen for storage. Here, it is reported that the distal histidine, His55, exhibits conformational flexibility in the deoxy form and is consequently observed in two solvent-exposed conformations more than 9.5 A away from the heme. These conformations are analogous to the open conformation of sperm whale myoglobin. The heme iron in deoxy ferrous DHP is five-coordinate and has an out-of-plane displacement of 0.25 A from the heme plane. The observation of five-coordinate heme iron with His55 in a remote solvent-exposed conformation is consistent with the hypothesis that His55 interacts with heme iron ligands through hydrogen bonding in the closed conformation. Since His55 is also displaced by the binding of 4-iodophenol in an internal pocket, these results provide new insight into the correlation between heme iron ligation, molecular binding in the distal pocket and the conformation of the distal histidine in DHP.

  18. Distal histidine conformational flexibility in dehaloperoxidase from Amphitrite ornata

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Zuxu; de Serrano, Vesna; Betts, Laurie; Franzen, Stefan; (NCSU); (UNC)

    2009-01-28

    The enzyme dehaloperoxidase (DHP) from the terebellid polychaete Amphitrite ornata is a heme protein which has a globin fold but can function as both a hemoglobin and a peroxidase. As a peroxidase, DHP is capable of converting 2,4,6-trihalophenols to the corresponding 2,6-dihaloquinones in the presence of hydrogen peroxide. As a hemoglobin, DHP cycles between the oxy and deoxy states as it reversibly binds oxygen for storage. Here, it is reported that the distal histidine, His55, exhibits conformational flexibility in the deoxy form and is consequently observed in two solvent-exposed conformations more than 9.5 {angstrom} away from the heme. These conformations are analogous to the open conformation of sperm whale myoglobin. The heme iron in deoxy ferrous DHP is five-coordinate and has an out-of-plane displacement of 0.25 {angstrom} from the heme plane. The observation of five-coordinate heme iron with His55 in a remote solvent-exposed conformation is consistent with the hypothesis that His55 interacts with heme iron ligands through hydrogen bonding in the closed conformation. Since His55 is also displaced by the binding of 4-iodophenol in an internal pocket, these results provide new insight into the correlation between heme iron ligation, molecular binding in the distal pocket and the conformation of the distal histidine in DHP.

  19. Necessity for fibular fixation associated with distal tibia fractures.

    Science.gov (United States)

    Taylor, Benjamin C; Hartley, Brandi R; Formaini, Nathan; Bramwell, Thomas J

    2015-12-01

    Intramedullary (IM) nailing is a well-accepted treatment for distal third tibia fractures in combination with injury to the fibula. However, the indications for operative stabilisation of the fibula remain controversial. The authors performed a retrospective review on a consecutive series of patients who underwent intramedullary nailing of a non-comminuted distal third tibia fracture with or without fibular fixation at a Level I urban trauma centre. A review of surgical records identified 120 patients who initially were included in this study, while a total of 98 patients who met the inclusion criteria were included in the final analysis. Our results found no difference in the mean value of coronal and sagittal plane alignment in both the immediate post-operative and follow-up time periods. We also saw no statistically significant difference when comparing malalignment between patients treated with or without fibula fixation. There were no deep infections between the two groups. No significant differences were seen between the fibular fixation group and the non-fixation group. Distal screw removal due to prominence or pain was the most common reason for future surgery in both groups. These findings suggest that the addition of fibular fixation does not affect whether or not alignment is maintained in either the immediate post-operative or short-term follow-up period. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Manometric and hormonal changes after distal partial gastrectomy.

    Science.gov (United States)

    Yamashita, Y; Inoue, H; Ohta, K; Yoshida, K; Miyahara, E; Hirai, T; Toge, T; Adrian, T E

    2000-04-01

    Alkaline oesophagitis attributable to duodenal mechanisms may induce oesophageal carcinogenesis in a rat reflux model. To investigate the mechanism of the regurgitation after distal partial gastrectomy. Oesophageal manometry was used in 16 patients before and after distal partial gastrectomy with reconstruction by Bilroth methods. Serum concentrations of four gastrointestinal hormones were measured by radioimmunoassay in 10 gastrectomy patients and nine healthy volunteers before and after a standardized meal. The lower oesophageal sphincter pressure was reduced to 83% after surgery. The amplitude and duration of the peristaltic waves tended to be increased, and the velocity tended to be less after surgery (amplitude 120%, duration 114%, velocity 88%). Interrupted waves appeared more frequently after surgery. The manometric changes in gastrectomized patients are considered to be disadvantageous relative to regurgitation. After surgery, gastrin and pancreatic polypeptide were completely abolished postprandially, whereas cholecystokinin and neurotensin were significantly increased. The hormonal changes should have a suppressive effect on the lower oesophageal sphincter. Both the manometric and the hormonal changes may exacerbate reflux oesophagitis after distal partial gastrectomy.

  1. A novel, new robotic platform for natural orifice distal pancreatectomy.

    Science.gov (United States)

    Thakkar, Shyam; Awad, Michael; Gurram, Krishna C; Tully, Steven; Wright, Cornell; Sanan, Siddharth; Choset, Howie

    2015-06-01

    Laparoendoscopic technology has revolutionized the practice of surgery; however, surgeons have not widely accepted laparoscopic techniques for pancreatic surgeries due to the complexity of the operation. Natural orifice transluminal endoscopic surgery (NOTES) offers a great new potential for pancreatic procedures, with early data showing benefits of reduced visible scarring and the potential for decreased wound infections, hernias, pain, and postoperative complications. However, there are significant limitations to the currently used flexible endoscopy tools, including a diminished visual field, spatial orientation and tissue manipulation issues, and 2-dimensional visual feedback. We have adopted a novel snake-like robot, the minimally invasive cardiac surgery (MICS) robot, which addresses these issues. In the current pilot study, the MICS robot was evaluated for transrectal distal pancreas exploration and resection in 2 nonsurvival porcine models. Abdominal navigation and accessing the pancreas was investigated in the first pig, and based on its success, pancreas resection was studied in pig 2. The MICS robot was successful in accessing and visualizing the right upper, left upper, and left lower quadrants of the abdomen in pig 1 and was able to perform a successful complex NOTES procedure with distal pancreas resection in pig 2, with only minimal laparoscopic retraction assistance. In conclusion, preliminary results showing the MICS robot in natural orifice distal pancreatectomy are positive. Enhancements to optics and instrumentation will help further increase the usability in pancreatic interventions. Future indications may include transgastric NOTES approaches, endoluminal procedures, and single-port applications. © The Author(s) 2014.

  2. Radiation-induced cerebrovasculopathy of the distal middle cerebral artery and distal posterior cerebral artery. Case report

    International Nuclear Information System (INIS)

    Hasegawa, Shu; Hamada, Jun-ichiro; Morioka, Motohiro; Kai, Yutaka; Hashiguchi, Akihito; Ushio, Yukitaka

    2000-01-01

    A 15-year-old girl underwent partial removal of a pituitary adenoma followed by local irradiation of the brain with a total of 70 Gy through two lateral opposing ports. Twenty years later, she experienced frequent transient ischemic attacks with left sensory disturbance. Cerebral angiography revealed stenoses of the right distal middle cerebral artery (MCA) and the right distal posterior cerebral artery without net-like vessels. There was a severe decrease of vasoreactivity in the right hemisphere. Right superficial temporal artery (STA)-MCA anastomosis was performed. Her neurological deficits were resolved and perfusion reserve capacity had markedly improved 6 months later. We recomment STA-MCA anastomosis in such cases. (author)

  3. [Results After Distal Digital Replantation - Is It Worth The Effort?

    Science.gov (United States)

    Braig, David; Thiele, Jan R; Penna, Vincenzo; Stark, G Björn; Eisenhardt, Steffen U

    2017-02-01

    There are only relative indications for distal digital replantation in zones 1 and 2 according to Tamai. In contrast to primary closure for fingertip amputations, replantation is a complex procedure that requires skills in supermicrosurgical techniques, as vessels with diameters between 0.3-0.8 mm are connected. In addition the time spent in hospital and the time off from work are longer. Distal digital replantation is thus only indicated, if the expected functional and aesthetic benefits surmount those of primary closure. We retrospectively analysed all fingertip amputations in zone 1 and 2 according to Tamai between 9/2009 and 7/2014 where we attempted distal digital replantation. The success of replantation, wound healing and functional results were evaluated according to Yamano. We performed 11 distal digital replantations in the study period. There were 6 total amputations, 4 subtotal amputations and 1 avulsion of the digital pulp. Revascularisation with long-term reattachment of the amputated tissues was possible in 8 cases (73%). In 3 cases (27%) secondary amputation closure was necessary. The mean operating time was 3 h 56 min. 6 patients, which had a successful replantation, were available for follow-up examinations after a mean period of 19 months. 5 patients were satisfied with the result and would again prefer replantation over primary amputation closure. 4 patients reported a good function of the replanted digits and did not complain about any limitations in their use. 2 patients complained about restricted function. All patients could return to their previous places of employment and were free of pain. Of the 12 affected digital nerves 11 nerves had a 2-point discrimination (2-PD) of ≤15 mm, 3 of them had a 2-PD between 7 and 10 mm and 4 of them of replanted digits and nail deformities in 2 patients. Distal digital replantation is complex and technically challenging. It leads to high patient satisfaction with only minimal functional

  4. FGF10 maintains distal lung bud epithelium and excessive signaling leads to progenitor state arrest, distalization, and goblet cell metaplasia

    Directory of Open Access Journals (Sweden)

    Kobberup Sune

    2008-01-01

    Full Text Available Abstract Background Interaction with the surrounding mesenchyme is necessary for development of endodermal organs, and Fibroblast growth factors have recently emerged as mesenchymal-expressed morphogens that direct endodermal morphogenesis. The fibroblast growth factor 10 (Fgf10 null mouse is characterized by the absence of lung bud development. Previous studies have shown that this requirement for Fgf10 is due in part to its role as a chemotactic factor during branching morphogenesis. In other endodermal organs Fgf10 also plays a role in regulating differentiation. Results Through gain-of-function analysis, we here find that FGF10 inhibits differentiation of the lung epithelium and promotes distalization of the embryonic lung. Ectopic expression of FGF10 in the lung epithelium caused impaired lung development and perinatal lethality in a transgenic mouse model. Lung lobes were enlarged due to increased interlobular distance and hyperplasia of the airway epithelium. Differentiation of bronchial and alveolar cell lineages was inhibited. The transgenic epithelium consisted predominantly of proliferating progenitor-like cells expressing Pro-surfactant protein C, TTF1, PEA3 and Clusterin similarly to immature distal tip cells. Strikingly, goblet cells developed within this arrested epithelium leading to goblet cell hyperplasia. Conclusion We conclude that FGF10 inhibits terminal differentiation in the embryonic lung and maintains the distal epithelium, and that excessive levels of FGF10 leads to metaplastic differentiation of goblet cells similar to that seen in chronic inflammatory diseases.

  5. Concave distal end of ulna metaphysis alone is not a sign of rickets

    Energy Technology Data Exchange (ETDEWEB)

    Oestreich, Alan E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, 5031, Cincinnati, OH (United States)

    2015-07-15

    Statements have been made in the literature and in legal testimony that misrepresent the radiographic finding of concave distal end of the ulnar metaphysis. To demonstrate that a concave distal end of the ossified ulna in infancy can be normal. Eighty distal wrists of randomly selected infants in the first year of life with radiographic evidence that ruled out rickets were reviewed. In 16 of the cases (20%), mild or moderate concavity of the distal end of the ulna was seen. An intact metaphyseal collar of distal radius or ulna confirmed the absence of radiographic rickets. The finding of 20% of concave distal ulnas in the first year of life confirms the widely acknowledged statements that concave distal end of the ulna alone is not indicative of rickets. Statements to the contrary are not justified. (orig.)

  6. Fuel element

    International Nuclear Information System (INIS)

    Hirose, Yasuo.

    1982-01-01

    Purpose: To increase the plenum space in a fuel element used for a liquid metal cooled reactor. Constitution: A fuel pellet is secured at one end with an end plug and at the other with a coil spring in a tubular container. A mechanism for fixing the coil spring composed of a tubular unit is mounted by friction with the inner surface of the tubular container. Accordingly, the recoiling force of the coil spring can be retained by fixing mechanism with a small volume, and since a large amount of plenum space can be obtained, the internal pressure rise in the cladding tube can be suppressed even if large quantities of fission products are discharged. (Kamimura, M.)

  7. Trace-element content of human scalp hair

    International Nuclear Information System (INIS)

    Gordus, A.A.; Wysocki, C.M.; Maher, C.C. III; Wieland, R.C.

    1974-01-01

    The importance of some of the factors that could affect the measured trace-element content of human scalp hair have been evaluated. Included are frequency of hair washing and swimming, shampoos used, gross differences in diet, and the variation in content along the strands of hair. The data for length-content variation suggest that, for some elements, eccrine sweat may contribute significantly to the measured trace-element content of hair and that such variation must be taken into account in assessing data for historical hair samples, many of which represent clippings of distal segments of hair

  8. Fixation of distal fibular fractures: A biomechanical study of plate fixation techniques.

    Science.gov (United States)

    Marvan, Jiri; Horak, Zdenek; Vilimek, Miloslav; Horny, Lukas; Kachlik, David; Baca, Vaclav

    2017-01-01

    Ankle fractures are complex injuries with variable prognoses that depend upon many factors. The aim of the treatment is to restore the ankle joint biomechanical stability with maximum range of motion. Most ankle fractures are fibular fractures, which have a typical oblique fracture line in the distal fibula located in the area of the tibiofibular syndesmosis. The aim of this study was to simulate numerically several fixation techniques of the distal fibular fractures, evaluate their stability, determine their impact on surrounding tissue load, and correlate the results to clinical treatment experience. The following three models of fibular fracture fixation were used: (a) plate fixation with three screws attached above/below and lag screws, (b) plate fixation with two screws attached above/below and lag screws, and (c) three lag screws only. All three fracture fixation models were analyzed according to their use in both healthy physiological bone and osteoporotic bone tissue. Based on the results of Finite Element Analysis for these simulations, we found that the most appropriate fixation method for Weber-B1 fibular fractures was an unlocked plate fixation using six screws and lag screws, both in patients with physiological and osteoporotic bone tissue. Conversely, the least appropriate fixation method was an unlocked plate fixation with four screws and lag screws. Although this fixation method reduces the stress on patients during surgery, it greatly increased loading on the bone and, thus, the risk of fixation failure. The final fixation model with three lag screws only was found to be appropriate only for very limited indications.

  9. [Surgical treatment for distal rupture of the biceps tendon].

    Science.gov (United States)

    Dojcinovic, S; Maes, R; Hoffmeyer, P; Peter, R

    2004-09-01

    Avulsion of the distal biceps brachii tendon at the elbow is uncommon. We analyzed cases operated in our department in order to define etiological factors and surgical treatment outcome. We reviewed retrospectively eleven patients, ten male patients, average age 43 years (range 37-59) with distal biceps tendon ruptures repaired anatomically with a double-incision technique and one other male patient whose tendon was attached to the brachialis anterior. Nine patients were seen for clinical assessment at least two years after operation. Average follow-up was 7 years (range 1-10). Patient satisfaction was good and all stated they would opt for surgical treatment again. The most common mechanism of injury was heavy weight lifting with the elbow at 90 degrees flexion or excentric loading on a flexed elbow. The dominant limb was injured in all patients. Eight patients had sustained injury during domestic activities and three during sports activities. Clinical diagnosis was the rule. MRI was useful in patients seen late after injury. We found nine cases of avulsion located at the bicipital tuberosity. All subjective results were good. Strength testing of the injured limbs revealed a loss of 30% supination strength and 40% supination endurance for the anatomic reinsertions. For the non-anatomic reinsertion, there was a 50% decrease in strength and 60% decrease in endurance. Clinical follow-up after seven years showed no nerve damage or heterotopic bone formation. Anatomic repair of distal biceps tendon rupture provides consistently good results. Attachment of the brachial tendon to the brachial anterior muscle cannot restore supination force. The two-incision technique with the extensor mass-splitting approach described by Boyd and Anderson lessens the risk of radial nerve plasty. Early anatomic reconstruction can restore more strength and endurance for supination. Attachment of the brachialis muscle must be considered in the event of late reconstruction. Subjective

  10. Fractal analysis of bone architecture at distal radius

    International Nuclear Information System (INIS)

    Tomomitsu, Tatsushi; Mimura, Hiroaki; Murase, Kenya; Sone, Teruki; Fukunaga, Masao

    2005-01-01

    Bone strength depends on bone quality (architecture, turnover, damage accumulation, and mineralization) as well as bone mass. In this study, human bone architecture was analyzed using fractal image analysis, and the clinical relevance of this method was evaluated. The subjects were 12 healthy female controls and 16 female patients suspected of having osteoporosis (age range, 22-70 years; mean age, 49.1 years). High-resolution CT images of the distal radius were acquired and analyzed using a peripheral quantitative computed tomography (pQCT) system. On the same day, bone mineral densities of the lumbar spine (L-BMD), proximal femur (F-BMD), and distal radius (R-BMD) were measured by dual-energy X-ray absorptiometry (DXA). We examined the correlation between the fractal dimension and six bone mass indices. Subjects diagnosed with osteopenia or osteoporosis were divided into two groups (with and without vertebral fracture), and we compared measured values between these two groups. The fractal dimension correlated most closely with L-BMD (r=0.744). The coefficient of correlation between the fractal dimension and L-BMD was very similar to the coefficient of correlation between L-BMD and F-BMD (r=0.783) and the coefficient of correlation between L-BMD and R-BMD (r=0.742). The fractal dimension was the only measured value that differed significantly between both the osteopenic and the osteoporotic subjects with and without vertebral fracture. The present results suggest that the fractal dimension of the distal radius can be reliably used as a bone strength index that reflects bone architecture as well as bone mass. (author)

  11. Medical expulsive treatment of distal ureteral stone using tamsulosin

    International Nuclear Information System (INIS)

    Ahmad, H.; Azim, W.; Akmal, M.; Murtaza, B.

    2015-01-01

    Many minimally invasive interventional techniques as well as expectant treatments exist for the management of lower ureteric calculi. This study was conducted to evaluate the efficacy of tamsulosin as an expulsive pharmacologic therapy for the treatment of distal ureteral stone. Methods: This randomized control trial included 100 patients over 18 years of age with stone Size = 8mm in distal 1/3 of ureter. Patients were randomly assigned into two groups (A and B). Group A Patients were given Capsule Tamsulosin 0.4 mg, 1 daily up to 4 weeks while group B patients were given placebo, 1 Capsule daily up to 4 weeks. The primary endpoint was expulsion rate. A written informed consent was taken from all the patients. Expulsion time, need for analgesics, need for hospitalization and drug side effects were secondary endpoints. Results: A total of 49 patients in group A and 48 patients in group B reported back, therefore 97 out of 100 patients were evaluated. Mean age of the patients was 36.34 years (range 18-57 years). Mean stone size was 5.78 mm (range 4-8 mm) in greatest dimension. A stone expulsion rate of 85.71% (42 patients) was noted in group A and 54.20% (26 patients) in group B. Group A revealed a statistically significant advantage in term of stone expulsion rate (p=0.032). Considering expulsion time in days group A showed statistically significant advantage (p=0.015). Regarding age, sex, stone size and stone lateralization (right/left), there was no significant difference between the group A and B. No drug side effects were noted in both the groups. Conclusion: By using tamsulosin a higher stone expulsion rates can be achieved in a shorter time. More randomized control trials are required to establish tamsulosin as a standard medical expulsive treatment for small distal ureteric calculus. (author)

  12. Outcome Assessment after Aptis Distal Radioulnar Joint (DRUJ Implant Arthroplasty

    Directory of Open Access Journals (Sweden)

    Amir Reza Kachooei

    2014-09-01

    Full Text Available Background:  Conventional treatments after complicated injuries of the distal radioulnar joint (DRUJ such as Darrach and Kapandji-Sauvé procedures have many drawbacks, which may eventually lead to a painful unstable distal ulna.  The development of DRUJ prosthesis has significantly evolved over the past years. In this study, we assessed the outcome results of patients after DRUJ implant arthroplasty using the Aptis (Scheker prosthesis. Methods: We identified 13 patients with 14 prosthesis during the past 10 years. Patients underwent DRUJ arthroplasty due to persistent symptoms of instability, chronic pain, and stiffness. Records and follow-up visits were reviewed to find the final post-operative symptoms, pain, range of motion, and grip strength with a mean follow-up of 12 months (range: 2-25 months. Also, patients were contacted prospectively by phone in order to  minister the disabilities of the armshoulder and hand (DASH, patient rated wrist evaluation (PRWE, and visual analogue scale (VAS, and to interview regarding satisfaction and progress in daily activities. Eleven patients out of 13 could be reached with a median followup time of 60 months (range: 2 to 102 months.  Results: No patient required removal of the prosthesis. Only two patients underwent secondary surgeries in which both required debridement of the screw tip over the radius. The median DASH score, PRWE score, VAS, and satisfaction were 1.3, 2.5, 0, and 10, respectively. The mean range of flexion, extension, supination, and pronation was 62, 54, 51, and 64, respectively. Conclusions: Distal radioulnar joint injuries are disabling and patients usually undergo one or more salvage surgeries prior to receiving an arthroplasty. The Scheker prosthesis has shown satisfactory results with 100% survival rate in all reports. The constrained design of this prosthesis gives enough stability to prevent painful subluxation.

  13. Outcomes of Distal Femur Fracture Treated with Dynamic Condylar Screw

    International Nuclear Information System (INIS)

    Razaq, M. N. U.; Muhammad, T.; Ahmed, A.; Adeel, M.; Ahmad, S.; Ahmad, S.; Sultan, S.

    2016-01-01

    Background: Implants for open reduction and internal fixation of distal femoral fracture includes angle blade plate, rush nails, enders nail and interlocking nails. But all these devices are technically demanding and less effective in providing inter-fragmentary compression in osteoporotic bones. These problems can be solved with dynamic condylar screw (DCS).The objective of the study was to determine the frequency of different outcomes of distal femoral fracture treated with dynamic condylar screw Methods: This case series study was carried out in the Department of Trauma and Orthopaedics, Ayub Teaching Hospital Abbottabad from 1st October 2014 to August 2015, after approval of the ethical committee of the institution. Data of all patients with distal femoral fractures aged 20-70 years, recruited through emergency, OPD or consultant clinic collected on a proforma. Standard treatment of trauma was given to the patients. Detailed history was taken including the past medical and surgical history. Detailed examination including air-way, breathing and circulation, general physical examination and abdomino-pelvic examination was done in each patient. Investigations including urinalysis, haemoglobin percent, full blood count, X-ray (both AP and lateral view) of the involved femur (including hip and knee) was done. Results: Mean age of the patients was 43.18±14.647 ranging from 20 to 70 years. Mean duration of hospital stay in days was 2.21±1.111 ranging from 1 to 6 days. Patients follow-up assessment after 4 months of surgery for union of femoral fracture treated with dynamic condylar screw was found in 96 (94.1 percent), wound infection was found in 7 (6.9 percent), knee stiffness was found in 21 (20.6 percent) and limb shortening was found in 7 (6.9 percent). Conclusion: Dynamic condylar screw is an easy, scientifically less difficult and satisfying method of treatment for fractures of femur. (author)

  14. Distal radius hemiarthroplasty combined with proximal row carpectomy: case report.

    Science.gov (United States)

    Boyer, Jeffrey S; Adams, Brian

    2010-01-01

    Severe wrist arthritis is most commonly treated by complete wrist arthrodesis, which provides predictable pain relief but the loss of motion may reduce ease of function. In selected patients, motion preserving surgical options, including limited intercarpal fusion, proximal row carpectomy (PRC), and total wrist arthroplasty (TWA) are considered. However, limited fusion and PRC are typically possible only in less severe cases in which there are some articular surfaces showing minimal degeneration that can be retained. TWA is an option for patients who have lower activity demands and specific needs or desires to maintain some wrist motion. Recent utility and decision analysis studies demonstrate that arthroplasty is associated with higher qualify adjusted life year (QALY) than arthrodesis in patients with rheumatoid arthritis. Despite these positive aspects of TWA, the procedure is not as widely accepted as hip, knee, or shoulder arthroplasty. Early implants had problems related to both materials and design, with breakage, loosening and joint imbalance being common complications. Newer generation implants are improved with more predictable early function, less joint imbalance, and rare breakage, but distal component loosening remains a substantial problem. Thus, patients with poor bone stock and those with high activity demands are typically not candidates for TWA, and all patients are advised to restrict activities to reduce the risk of implant loosening. A new motion preserving procedure has recently been used at our institution in selected patients with severe arthritis who do not qualify for TWA but request an alternative to complete wrist fusion. In this procedure, a distal radius implant arthroplasty is combined with a PRC. The distal radius component of a Universal 2 (UNI 2) total wrist arthroplasty system (Integra life Sciences, Plainsboro, NJ) is used. To our knowledge, there have been no previous publications on this technique. We report our first two cases

  15. Acute Aldosterone-mediated Signaling Networks in Distal Convoluted Tubules

    DEFF Research Database (Denmark)

    Cheng, Lei; Wu, Qi; Olesen, Emma T. B.

    2017-01-01

    The kidney distal convoluted tubule (DCT) plays an important role in modulating body sodium balance and blood pressure. Long-term effects of aldosterone to increase sodium reabsorption in the DCT are well described. However, potential effects of aldosterone to acutely modulate DCT function via non...... in abundance following aldosterone treatment. The EGFR, ERK1/2, AKT, GSK3B and P70S6K were predicted to be important pathway nodes based on the quantitative proteomics data using network analysis. Ex vivo studies in isolated mouse cortical tubules demonstrated an increase in phosphorylated (active) NCC...

  16. Distal renal tubular acidosis in a child with HIV infection

    Directory of Open Access Journals (Sweden)

    Preeti Shanbag

    2012-01-01

    Full Text Available Renal tubular acidosis (RTA is not uncommon in HIV-infected children with ad-vanced disease, and has been described mainly due to nephrotoxic anti-retroviral therapy and in association with prophylaxis or treatment of Pneumocystis carinii pneumonia with co-trimoxazole. We describe an 8-year-old boy, newly diagnosed to have HIV infection, who presented with distal RTA. There were no features of chronic RTA in the form of rickets or nephrocalcinosis, making an inherited form unlikely.

  17. Concomitant hypercalcemia and hyperammonemia associated with distal renal tubular acidosis.

    Science.gov (United States)

    Saini, Arun; Karmakar, Swati A; Kannikeswaran, Nirupama

    2012-03-01

    We describe an infant with concomitant hypercalcemia and hyperammonemia associated with nonanion gap metabolic acidosis secondary to distal renal tubular acidosis (dRTA). The levels of both serum calcium and ammonia rapidly normalized with the correction of dehydration and metabolic acidosis. To the best of our knowledge, there has been only one previous case report of concomitant hypercalcemia and hyperammonemia associated with dRTA that has been reported in the literature. We describe the causes and emergent management of hypercalcemia and review the possible mechanisms of this rare association with dRTA.

  18. Proximal and distal adjustments of reaching behavior in preterm infants.

    Science.gov (United States)

    de Toledo, Aline Martins; Soares, Daniele de Almeida; Tudella, Eloisa

    2011-01-01

    The authors aimed to investigate proximal and distal adjustments of reaching behavior and grasping in 5-, 6-, and 7-month-old preterm infants. Nine low-risk preterm and 10 full-term infants participated. Both groups showed the predominance of unimanual reaching, an age-related increase in the frequency of vertical-oriented and open hand movement, and also an increase in successful grasping from 6 to 7 months. The frequency of open hand was higher in the preterm group at 6 months. Intrinsic restrictions imposed by prematurity did not seem to have impaired reaching performance of preterm infants throughout the months of age.

  19. Management of fractures of the distal radius: surgeon's perspective.

    Science.gov (United States)

    Raskin, K B

    1999-01-01

    The new millennium represents a time for expanding our present knowledge of the treatment of distal radius fractures, based on the foundation of information that has been gathered over the past century. Treatment-oriented classifications have replaced the prior generalization applied to all "Colles fractures" and have directed preoperative planning. Newer external fixation frames, improved surgical technique, and superior instrumentation allow for safer reproducible ligamentotaxis. These current concepts of treatment along with a comprehensive therapy plan have provided the basis for enhanced recovery from these challenging injuries.

  20. Congenital deformity of the distal extremities in three dogs

    Directory of Open Access Journals (Sweden)

    F. Di Dona

    2016-11-01

    Full Text Available Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical and radiographic findings in three dogs with congenital deformity involving the distal extremities. Case 1 was affected with bilateral aphalangia of the pedes, case 2 presented a combination of brachydactyly and syndactyly, whereas in case 3 a unilateral ectrodactyly was observed. To the authors’ knowledge, brachydactyly, as well as aphalangia, are very uncommon anomalies and have been rarely documented. Moreover, association between syndactyly and brachydactyly has still not been reported.

  1. Medial Column Arthrodesis Using an Anatomic Distal Fibular Locking Plate.

    Science.gov (United States)

    Nasser, Ellianne M; LaPorta, Guido A; Trott, Kasandra

    2015-01-01

    The medial column fusion is performed for a multitude of etiologies, including peritalar subluxation deformity, Charcot arthropathy, trauma, post-traumatic degenerative joint disease, and rheumatoid arthritis. Various surgical techniques have been described for medial column arthrodesis. We describe a new fixation method using an anatomic distal fibular locking plate for medial column arthrodesis. This technique provides a rigid construct in compromised or at risk bone. After a review of the surgical technique, we outline 2 case examples of patients with peritalar subluxation and Charcot arthropathy. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  2. Element Method

    Directory of Open Access Journals (Sweden)

    Fong Kah Soon

    2017-01-01

    Full Text Available The vibration of damped pipeline conveying fluid with the effect of fluid-structure interaction is known to pose challenging problems in oil and gas industry. In this study, the natural frequency of fluid-structure interaction in pipeline conveying fluid set on viscoelastic foundation is investigated by using finite element method. The governing partial differential equation is modelled based on Euler-Bernoulli beam theory. By applying Galerkin weighted residual method, the stiffness, damping, and mass matrices are obtained. For a given boundary condition which is simply supported, two components of the foundation (foundation stiffness and damping which are influencing the damped natural frequency of the pipeline are studied for different fluid velocity. The results indicate that increasing the foundation stiffness from 10 kN/m3 to 30 kN/m3 increases the natural frequency of the pipeline, while increasing the foundation damping from 1 kN.s/m3 to 3 kN.s/m3 and fluid velocity decrease the natural frequency of the pipeline. The accuracy of the results obtained is validated against data from literature.

  3. The effectiveness of pendulum, K-loop, and distal jet distalization techniques in growing children and its effects on anchor unit: A comparative study.

    Science.gov (United States)

    Marure, Pravinkumar S; Patil, Raju Umaji; Reddy, Sumitra; Prakash, Amit; Kshetrimayum, Nillachandra; Shukla, Rajeevkumar

    2016-01-01

    A common strategy to correct Class II malocclusions using a nonextraction protocol in children is to move the maxillary molars distally using molar distalization appliances, which usually derive their anchorage from maxillary premolars, causing mesialization of premolars and protrusion of incisors. To evaluate the skeletal, dental and soft tissue changes produced by three different distalizing appliances, namely, pendulum, K-loop, and distal jet appliances. Sixty-six children of mean age 14.13 years requiring molar distalization were divided into three groups: Group I (pendulum appliance), Group II (K-loop), and Group III (distal jet). Lateral cephalometric films were taken before and after 5 months of molar distalization and following cephalometric parameters were used to assess the effects of maxillary molar distalization, namely, anteroposterior skeletal (SNA/SNB/ANB), vertical skeletal (face height ratio/Frankfort-mandibular plane [FMA]/angle formed between Maxillary plane & Mandibular plane (MM)), interdental (overjet/overbite), maxillary dentoalveolar, and soft tissue parameters. There was no significant age difference between the three groups. In overall treatment changes among the three groups, the Anteroposterior skeletal changes were not statistically significant, vertically FMA angle increased by 1.79° ± 2.25° and overbite reduced by 2.38 ± 1.83 mm. The maxillary first molars were distalized by an average of 4.70 ± 3.01 mm (Upper 6 [U6] to pterygoid vertical [PTV]). The maxillary central incisor labial tipping increased to an average of 1.61 ± 2.73 mm and cant of upper lip increased by 3.40° ± 5.88° are statistically significant (P < 0.05). All three distalization techniques in growing children produced significant effects on anchor unit. There was an increase in FMA angle, significant bite opening, proclination of the maxillary incisors and increase in the cant of the upper lip.

  4. Cost-effectiveness of laparoscopic versus open distal pancreatectomy for pancreatic cancer.

    Science.gov (United States)

    Gurusamy, Kurinchi Selvan; Riviere, Deniece; van Laarhoven, C J H; Besselink, Marc; Abu-Hilal, Mohammed; Davidson, Brian R; Morris, Steve

    2017-01-01

    A recent Cochrane review compared laparoscopic versus open distal pancreatectomy for people with for cancers of the body and tail of the pancreas and found that laparoscopic distal pancreatectomy may reduce the length of hospital stay. We compared the cost-effectiveness of laparoscopic distal pancreatectomy versus open distal pancreatectomy for pancreatic cancer. Model based cost-utility analysis estimating mean costs and quality-adjusted life years (QALYs) per patient from the perspective of the UK National Health Service. A decision tree model was constructed using probabilities, outcomes and cost data from published sources. A time horizon of 5 years was used. One-way and probabilistic sensitivity analyses were undertaken. The probabilistic sensitivity analysis showed that the incremental net monetary benefit was positive (£3,708.58 (95% confidence intervals (CI) -£9,473.62 to £16,115.69) but the 95% CI includes zero, indicating that there is significant uncertainty about the cost-effectiveness of laparoscopic distal pancreatectomy versus open distal pancreatectomy. The probability laparoscopic distal pancreatectomy was cost-effective compared to open distal pancreatectomy for pancreatic cancer was between 70% and 80% at the willingness-to-pay thresholds generally used in England (£20,000 to £30,000 per QALY gained). Results were sensitive to the survival proportions and the operating time. There is considerable uncertainty about whether laparoscopic distal pancreatectomy is cost-effective compared to open distal pancreatectomy for pancreatic cancer in the NHS setting.

  5. Clinical characteristics of ruptured distal middle cerebral artery aneurysms: Review of the literature.

    Science.gov (United States)

    Tsutsumi, Keiji; Horiuchi, Tetsuyoshi; Nagm, Alhusain; Toba, Yasuyuki; Hongo, Kazuhiro

    2017-06-01

    Middle cerebral artery (MCA) aneurysms usually arise at the primary MCA bifurcation or trifurcation. Distal MCA aneurysms are rarely considered as sources of aneurysmal subarachnoid hemorrhage (SAH). It has been reported that ruptured distal MCA aneurysms are associated with head trauma, neoplastic emboli, arterial dissection, or bacterial infection. We experienced five cases of ruptured distal MCA aneurysms and evaluated their clinical characteristics. Retrospective analysis of aneurysmal SAH at Kobayashi Neurosurgical Neurological Hospital was performed from January, 2004 to December, 2014. Clinical characteristics of ruptured distal MCA aneurysms were analyzed using our database. Among 191 aneurysmal SAH patients, there were five ruptured distal MCA aneurysms. All patients did not have any specific medical problems such as infectious disease, head trauma, or cardiac disorders. The incidence of ruptured distal MCA aneurysm was higher than expected and was equivalent to 9.4% of the total ruptured MCA aneurysms. Strong male predominance (80%) and M2-3 junction aneurysm preponderance (80%) were observed. In addition, there were only two patients (40%) with intracerebral hematoma in our study. We reported five cases of ruptured distal MCA aneurysms. Although ruptured distal MCA aneurysms are thought to be rare as sources of aneurysmal SAH, the incidence of ruptured distal MCA aneurysm was 9.4% of all ruptured MCA aneurysms in our study. Ruptured distal MCA aneurysms should be considered as sources of aneurysmal SAH without intracerebral hematoma. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Correction of Hallux Valgus Interphalangeus With an Osteotomy of the Distal End of the Proximal Phalanx (Distal Akin Osteotomy).

    Science.gov (United States)

    Vander Griend, Robert

    2017-02-01

    Operative correction of a symptomatic hallux valgus interphalangeus (HVI) deformity is often achieved with an osteotomy at the proximal end of the proximal phalanx (Akin osteotomy). However, the apex of the typical HVI deformity (center of rotation angle) is at the interphalangeal joint of the hallux. This study was done to evaluate the results of performing a medial closing wedge osteotomy at the distal end of the proximal phalanx. Thirty-three patients (33 feet) underwent an osteotomy at the distal end of the proximal phalanx for correction of HVI. All of the patients had other forefoot deformities which were corrected at the same time. Eight of these were revision procedures of prior forefoot operations. The length of follow-up was determined by the associated procedures with a minimum follow-up of 4 months. The preoperative hallux valgus interphalangeus angle averaged 16 degrees of valgus (range 7-32 degrees) and was corrected to an average of 2 degrees of valgus (range 5 degrees valgus to 5 degrees varus). All of the patients were satisfied with the postoperative appearance and function of the first toe. Because of simultaneous correction of numerous other forefoot problems, it was not possible to specifically isolate or evaluate the effects and benefits of this osteotomy using outcomes measures. There was one intraoperative complication resulting in a fracture extending into the adjacent IP joint. Correction of an HVI deformity can be achieved with an osteotomy at the distal end of the proximal phalanx. This was a safe technique with few complications and with good results in terms of both correction and patient satisfaction. Level IV, retrospective case series.

  7. Delayed Fracture Healing in Diabetics with Distal Radius Fractures.

    Science.gov (United States)

    Pscherer, S; Sandmann, G H; Ehnert, S; Nussler, A K; Stöckle, U; Freude, T

    2017-01-01

    PURPOSE OF THE STUDY Diabetics may have an increased fracture risk, depending on disease duration, quality of metabolic adjustment and extent of comorbidities, and on an increased tendency to fall. The aim of this retrospective one-centre study consisted in detecting differences in fracture healing between patients with and without diabetes mellitus. Data of patients with the most common fracture among older patients were analyzed. MATERIAL AND METHODS Classification of distal radius fractures was established according to the AO classification. Inital assessment and followup were made by conventional x-rays with radiological default settings. To evaluate fracture healing, formation of callus and sclerotic border, assessment of the fracture gap, and evidence of consolidation signs were used. RESULTS The authors demonstrated that fracture morphology does not influence fracture healing regarding time span, neither concerning consolidation signs nor in fracture gap behavior. However, tendency for bone remodeling is around 70% lower in investigated diabetics than in non-diabetics, while probability for a successful fracture consolidation is 60% lower. CONCLUSIONS To corroborate the authors hypothesis of delayed fracture healing in patients with diabetes mellitus, prospective studies incorporating influencing factors like duration of metabolic disease, quality of diabetes control, medical diabetes treatment, comorbidities and secondary diseaseas, like chronic nephropathy and osteoporosis, have to be carried out. Key words: diabetes, delayed fracture healing, distal radius fractures, callus formation, blood glucose level, osteoblasts.

  8. Concomitant physeal fractures of the distal femur and proximal tibia

    Energy Technology Data Exchange (ETDEWEB)

    Sferopoulos, N.K. [Aristotle University of Thessaloniki, Department of Pediatric Orthopaedics, Thessaloniki (Greece)

    2005-07-01

    Concomitant physeal fractures of the distal femur and proximal tibia are very rare in children and adolescents. They are included in the classification of the ''floating knee'' injuries. Two cases with this combined injury are reported. They were closed injuries and in both patients the fracture of the proximal tibial epiphyseal plate was nondisplaced. In the first, a six-year-old girl, an early diagnosis was made radiographically. The intra-articular femoral fracture was operatively reduced and fixed. No growth abnormality was encountered 12 years later. The second patient, a 16-year-old boy, was conservatively treated for a displaced fracture-separation of the distal femoral epiphysis. Four weeks later there was physeal widening on both sides of the knee which indicated an associated fracture of the proximal tibial epiphyseal plate. One year after injury there was a varus deformity of the knee that was treated with a corrective osteotomy. Ten years later there is normal alignment of the leg. (orig.)

  9. Intramedullary Venous Drainage System for Distal Fingertip Replantations.

    Science.gov (United States)

    Purisa, Husrev; Ozturk, Muhammed Besir; Kabakas, Fatih; Mersa, Berkan; Ozcelik, Ismail Bulent; Sezer, Ilker

    2017-08-01

    The number of venous anastomoses performed during fingertip replantation is one of the most important factors affecting the success of replantation. However, because vessel diameters decrease in the zone 1 level, vessel anastomoses, especially vein anastomoses, are technically difficult and, thus, cannot be performed in most cases. Alternative venous drainage methods are crucial when any reliable vein repair is not possible. In the literature, so many artery-only replantation techniques have been defined, such as arteriovenous anastomoses, forming an arteriovenous or venocutaneous fistula, manual milking and massage, puncturing, and external bleeding via a fishmouth incision and using a medical leech. It has been shown that, in distal fingertip replantations, the medullary cavity may also be a good way for venous return. In this study, we introduce an alternative intramedullary venous drainage system we developed to facilitate venous drainage in artery-only fingertip replantations. The results of 24 fingertip replantations distal to the nail fold by using this system are presented with a literature review.

  10. Artrite interfalangeana distal séptica em bovinos

    Directory of Open Access Journals (Sweden)

    Juliano Santos Gueretz

    2005-06-01

    Full Text Available Afecções podais são relativamente comuns em bovinos, principalmente em rebanhos leiteiros. São de difícil e oneroso tratamento. Causam claudicação, desconforto, dor e perdas econômicas. Podem ter origem exógena, por evolução de infecções nos dígitos e anexos e por traumas penetrantes.Fatores endógenos, pós mastites e afecções do útero, também podem evoluir para podopatias. Relata-se um caso de infecção na articulação interfalangeana distal numa fêmea bovina, raça charolesa, com três anos de idade, com histórico de claudicação crônica, atendida na Clínica Escola da Universidade Estadual do Centro-Oeste UNICENTRO, apresentando sinais clínicos de artrite interfalangeana distal séptica. As técnicas utilizadas no estabelecimento do diagnóstico e a terapêutica abordada são descritas. O caso serve de alerta para o estabelecimento de estratégias a fim de evitar podopatias em bovinos.

  11. [Proximal and distal ruptures of the biceps brachii tendon].

    Science.gov (United States)

    Klonz, A; Loitz, D; Reilmann, H

    2003-09-01

    Proximal ruptures. Ruptures of the long head of the M. biceps humeri are commonly caused by degenerative changes within the tendon. Non-operative treatment gives good results, the loss of power regarding elbow flexion and supination amounts to only 8-21%. Refixation may be indicated for cosmetic reasons and offers a small but evident improvement of flexion and supination power. Deformity of the slipped muscle can be corrected effectively. Residual complaints after conservative treatment often result from associated subacromial problems. Distal ruptures. Ruptures of the distal tendon should be treated operatively. The loss of power after conservative treatment is evident (30-40% for flexion, >50% for supination). Extra-anatomical tenodesis to the brachialis muscle or anatomical fixation to the radial tuberosity can be applied. Flexion power and cosmesis can be addressed by both techniques. If supination strength is to be restored, the tendon has to be fixed anatomically. Preparation of the tuberosity bears the risk of heterotopic ossification or nerve damage. Mini-open techniques, using only a limited anterior approach, may decrease risks.

  12. Complicated distal femoral epiphyseolysis treated by Ilizarov method: Case report

    Directory of Open Access Journals (Sweden)

    Jovanović Vesna

    2010-01-01

    Full Text Available Introduction Injuries of the distal femur are rare in children; however, they are frequently associated with complications. They are almost always physeal, most frequently Salter-Harris type II epiphyseolysis. The treatment of such injuries is similar in all physeal injuries. It is intended to provide growth plate recovery by gentle reduction and stable fixation thus preventing secondary complications, and also to provide decompression of the segment to solve the compartment syndrome and recover the neurovascular structures. Case Outline A seven-year old boy presented with a right knee injury while sleigh riding. He was admitted three weeks following the injury with distal femoral epiphysiolysis associated with peroneal palsy. A day after admission to our Institute the reduction was performed using the Ilizarov device. Physical therapy was started immediately after surgery, as well as walking with weight bearing on the operated leg. Five months after surgery the patient was anatomically and functionally recovered. Conclusion The presented method is recommended in the treatment of such injuries because of several reasons; reposition is simple and complete, there is no need to open the fracture site, fixation is stable, the growth plate is preserved, there is no need for additional external immobilisation, and physical therapy involving walking with weight bearing on the operated leg may be started immediately after surgery. .

  13. [Distal femoral osteotomy using a lateral opening wedge technique].

    Science.gov (United States)

    Feucht, M J; Mehl, J; Forkel, P; Imhoff, A B; Hinterwimmer, S

    2017-08-01

    To shift the weight-bearing axis of the lower limb medially by opening a lateral-based metaphyseal osteotomy at the distal femur. Femoral-based valgus malalignment and symptomatic lateral unicompartimental osteoarthritis, lateral hyperpression syndrome, cartilage therapy of the lateral compartment, lateral meniscal replacement/transplantation, medial instability with valgus thrust, reconstruction of the medial collateral ligament, patellar instability and/or maltracking. Advanced cartilage damage (>grade 2) or subtotal meniscal loss of the medial compartment, age >65 years (relative), nicotine abuse, body mass index >30, flexion contracture >25°, corrections with a wedge base >10 mm in case of congenital deformities, inflammatory or septic arthritis, severe osteoporosis. Lateral approach to the distal femur; biplanar osteotomy (frontal + axial osteotomy), gradual opening of the osteotomy, osteotomy fixation with a locking plate. Free range of motion. Partial weight bearing with 20 kg for 2 weeks, followed by progressive weight bearing thereafter. Mean improvement of knee scores from 20-30 points and mean 10-year survival rate of 80% in patients with lateral unicompartimental osteoarthritis. Mean complication rate of 9%.

  14. An integer programming model for distal humerus fracture fixation planning.

    Science.gov (United States)

    Maratt, Joseph D; Peaks, Ya-Sin A; Doro, Lisa Case; Karunakar, Madhav A; Hughes, Richard E

    2008-05-01

    To demonstrate the feasibility of an integer programming model to assist in pre-operative planning for open reduction and internal fixation of a distal humerus fracture. We describe an integer programming model based on the objective of maximizing the reward for screws placed while satisfying the requirements for sound internal fixation. The model maximizes the number of bicortical screws placed while avoiding screw collision and favoring screws of greater length that cross multiple fracture planes. The model was tested on three types of total articular fractures of the distal humerus. Solutions were generated using 5, 9, 21 and 33 possible screw orientations per hole. Solutions generated using 33 possible screw orientations per hole and five screw lengths resulted in the most clinically relevant fixation plan and required the calculation of 1,191,975 pairs of screws that resulted in collision. At this level of complexity, the pre-processor took 104 seconds to generate the constraints for the solver, and a solution was generated in under one minute in all three cases. Despite the large size of this problem, it can be solved in a reasonable amount of time, making use of the model practical in pre-surgical planning.

  15. DO PROXIMAL AND DISTAL GASTRIC TUMOURS BEHAVE DIFFERENTLY?

    Science.gov (United States)

    Costa, Laurence Bedin da; Toneto, Marcelo Garcia; Moreira, Luis Fernando

    2016-01-01

    Although the incidence of gastric (adenocarcinoma) cancer has been decreasing over time, it is still one of the most common malignancies worldwide, and proximal tumours tend to have a worse prognosis. To compare surgical outcomes and prognosis between proximal - excluding tumours of the cardia - and distal gastric cancer. Out of 293 cases reviewed - 209 with distal and 69 with proximal gastric cancer - were compared for clinical and pathological features, stage, surgical outcome, mortality and survival. Statistically, there was no significant difference between patients in both groups regarding mortality (p=0.661), adjuvant chemotherapy (p 0.661), and radiation (p=1.000). However, there was significant difference in the degree of lymph node dissection employed (p=0.002) and the number of positive lymph nodes resected (p=0.038) between the two groups. The odds of death at five years for patients who had a D0 dissection was three times greater (odds ratio 2.78; (95%CI 1.33-5.82) than that for patients who had a D2 dissection, while for patients who had a D1 dissection the odds ratio was only 1.41 (95%CI 0.71-2.83) compared to D2-dissected patients. Although no significant differences were found between proximal and distal gastric cancer, the increased risk of death in D0- and D1-dissected patients clearly suggests an important role of radical D2 lymph node dissection in survival. Embora a incidência do câncer gástrico esteja diminuindo nas últimas décadas, ele ainda aparece como uma das neoplasias malignas mais comuns, e tumores proximais tendem a ter pior prognóstico. Comparar os resultados cirúrgicos e o prognóstico entre o câncer gástrico proximal, excluindo os tumores da cárdia e junção esofagogástrica, e o distal. De 293 casos revistos - 209 distais e 69 proximais - foram comparados quanto aos achados clínicos e patológicos, estágio, resultados cirúrgicos, mortalidade e sobrevida. Estatisticamente não houve diferença entre pacientes em ambos

  16. Anatomy of the distal biceps brachii tendon and its clinical relevance.

    Science.gov (United States)

    Kulshreshtha, Rajiv; Singh, Raminder; Sinha, Joydeep; Hall, Susan

    2007-03-01

    Rupture of the distal biceps tendon is a relatively uncommon injury. Different methods have been described for its surgical repair. According to published reports, current surgical techniques result in decreased strength and endurance of upper extremity functions requiring supination and flexion. In our anatomic study of 74 cadaveric elbows, we observed that the distal biceps tendon spirals in a predictable manner and has a complex fiber arrangement. Successful surgical repair of a ruptured distal biceps tendon should be predicated on an understanding of the tendon anatomy, but current surgical techniques do not take into account the salient anatomic features of the distal biceps tendon. To our knowledge, there is no description in the surgical literature of the fiber arrangement of the distal biceps tendon. We provide a basis for developing an anatomically accurate protocol for repairing a distal biceps tendon rupture.

  17. Distal radius reconstruction with vascularized proximal fibular autograft after en-bloc resection of recurrent giant cell tumor

    OpenAIRE

    Yang, Yun-fa; Wang, Jian-wei; Huang, Pin; Xu, Zhong-he

    2016-01-01

    Background Giant cell tumors (GCTs) located in the distal radius are likely to recur, and the treatment of such recurrent tumors is very difficult. Here, we report our clinical experience in distal radius reconstruction with vascularized proximal fibular autografts after en-bloc excision of the entire distal radius in 17 patients with recurrent GCT (RGCT) of the distal radius. Methods All 17 patients with RGCT in distal radius underwent plain radiography and/or magnetic resonance imaging (MRI...

  18. Fracture lines and comminution zones in OTA/AO type 23C3 distal radius fractures: The distal radius map.

    Science.gov (United States)

    Misir, Abdulhamit; Ozturk, Kahraman; Kizkapan, Turan Bilge; Yildiz, Kadir Ilker; Gur, Volkan; Sevencan, Ahmet

    2018-01-01

    This study was designed to define fracture lines and comminution zones in OTA/AO 23C3 distal radius fractures from axial computed tomography (CT) images that would influence surgical planning, development of new classifications, and possible implant designs. Thirty-four consecutive OTA/AO 23C3 fractures treated by a single surgeon between January 2014 and December 2014 were analyzed. For each fracture, maps of the fracture lines and zones of comminution were drawn. Each map was digitized and graphically superimposed to create a compilation of fracture lines and zones of comminution. Based on this compilation, major and minor fracture lines were identified and fracture patterns were defined. All major fracture lines were distributed in the central region of the radius distal articular surface. There is a recurrent fracture pattern with a comminution zone including the scaphoid and lunate fossa; Lister's tubercle; and ulnar, volar, and radial zones. It is important for the practicing surgeon to understand these four main fragments. Knowledge of this constant pattern should influence the development of new classifications and possible implant designs.

  19. Intersphincteric Resection and Coloanal Anastomosis in Treatment of Distal Rectal Cancer

    OpenAIRE

    Cipe, Gokhan; Muslumanoglu, Mahmut; Yardimci, Erkan; Memmi, Naim; Aysan, Erhan

    2012-01-01

    In the treatment of distal rectal cancer, abdominoperineal resection is traditionally performed. However, the recognition of shorter safe distal resection line, intersphincteric resection technique has given a chance of sphincter-saving surgery for patients with distal rectal cancer during last two decades and still is being performed as an alternative choice of abdominoperineal resection. The first aim of this study is to assess the morbidity, mortality, oncological, and functional outcomes ...

  20. Classification of Distal Fingertip Amputation Based on the Arterial System for Replantation

    OpenAIRE

    Park, Hyun Chul; Bahar-Moni, Ahmed Suparno; Cho, Sang Hyun; Kim, Sang Soo; Park, Hyun Sik; Ahn, Sang Cheon

    2012-01-01

    During replantation of distal fingertip amputation, identification of the artery is the most important but time consuming procedure. Depending on the damaged arterial structure, we classified distal fingertip amputations into 4 zones, on the basis of three dimensional concept. Zone 1 injury was defined as damage to the proximal central pulp artery; zone 2 injury, damage to the branch of the central pulp artery; zone 3 injury, damage to the distal central pulp artery; and zone 4 injury, no inj...

  1. OUTCOME OF DISTAL TIBIA FRACTURE BY NAIL OR PLATE (MIPPO)- A COMPARATIVE STUDY

    OpenAIRE

    Madhuchandra R; Chandrashekhar Mudgal; Sandeep; Amol Shivaji Chavan

    2017-01-01

    BACKGROUND Distal tibial fracture often present a challenge to the orthopaedic surgeon. The best option for surgical management of distal tibial fracture is still unclear, whether nail or plate. MATERIALS AND METHODS The study consists of 24 patients of distal tibial fracture treated either with reamed intramedullary nails or locked plating/MIPPO with open reduction method or minimally-invasive techniques. RESULTS 24 patients included in the present study were divided i...

  2. Single Incision Distal Biceps Repair With Hemi-Krackow Suture Technique: Surgical Technique and Early Outcomes

    OpenAIRE

    Goljan, Peter; Patel, Nimit; Stull, Justin D.; Donnelly, Brandon P.; Culp, Randall W.

    2016-01-01

    Background: Many surgical methods exist for distal biceps repair. We present the technique and early outcomes of a series of distal biceps repairs completed with a novel suturing technique utilizing a hemi-Krackow locking stitch at the tendon-bone interface. Methods: A retrospective review was performed of patients who underwent primary distal biceps repair using a single anterior incision with 2 suture anchors utilizing a hemi-Krackow stitch. With both anchors, a locking stitch along the ten...

  3. Radiation-free Insertion of Distal Interlocking Screw in Tibial and Femur Nailing: A Simple Technique

    OpenAIRE

    Soni, Ritesh Kumar; Mehta, Surender Mohan; Awasthi, Bhanu; Singh, Janith Lal; Kumar, Amit; Thakur, Lokesh; Tripathy, Sujit Kumar

    2012-01-01

    Background: Distal interlocking screw insertion in intramedullary nailing of long-bone fracture is a challenging task for orthopedic surgeons. It is difficult particularly when the surgeon is in his learning stage or when image intensifier is not available. We describe a radiation-free technique of distal interlocking screw insertion which is easy and practicable. Materials and Methods: In this technique, a same length nail is placed over the skin (outer nail) and through its distal-most scre...

  4. A method for designing plates in treatments of proximal humeral fracture and distal radial fracture

    OpenAIRE

    Lin Wang; Zhengming Chen; Kunjin He; Wei Xiang

    2016-01-01

    The purpose of this paper was to quickly design fixation plates for fractured proximal humerus and distal radius according to the requirements of surgical treatment. Therefore, a new method to quickly design cloverleaf plate appropriate for proximal humerus and volar plate appropriate for distal radius is put forward. First, three-dimensional (3D) reconstruction models of fractured proximal humerus and distal radius were generated based on deforming mean parametric models of proximal humerus ...

  5. Distal fibular malrotation and lateral ankle contact characteristics.

    Science.gov (United States)

    Stroh, D Alex; DeFontes, Kenneth; Paez, Adrian; Parks, Brent; Guyton, Gregory P

    2017-09-20

    Any amount of malreduction of the syndesmotic joint compared with the uninjured syndesmosis has been associated with an adverse effect on functional outcome. The amount of malrotation that may lead to clinically relevant pressure change in this joint has not been reported. Our purpose was to determine whether small degrees of external and internal malrotation would be associated with statistically significant changes in contact pressure in the tibiofibular and talofibular articulations. Twelve cadaveric ankles were osteotomized above the syndesmosis and instrumented with a rotatable distal fibula plate. Sensors at the distal tibiofibular and talofibular articulations recorded contact pressure and area at neutral position and at 5 and 10° of external and internal malrotation through a full range of ankle motion. Compared with neutral rotation, there was a significant decrease in contact pressure at the talofibular articulation with external rotation of 5° (103±113kPa versus 52±69kPa; P=0.01) and 10° (43±62kPa; P=0.01) in plantarflexion.Contact pressure at the tibiofibular articulation in plantarflexion increased with 10° of internal malrotation compared with neutral rotation (56±30kPa versus 74±38kPa; P=0.05) in plantarflexion. Contact area decreased significantly with plantarflexion and 10° of external rotation and increased significantly in plantarflexion and after cyclic loading with 10° of internal rotation (P≤0.05). Any degree of distal fibular external rotation significantly reduced contact pressure in the talofibular articulation with plantarflexion. A minimal increase in contact pressure was found in the tibiofibular and talofibular joints with plantarflexion and mild internal rotation of 5°, but pressure increased significantly in both articulations with 10° of internal rotation. The findings support clinical findings that subtle degrees of fibular malrotation may be associated with alteration of lateral ankle mechanics. Controlled

  6. [Dual plating fixation for distal fibular comminuted fractures].

    Science.gov (United States)

    Gu, Wenqi; Shi, Zhongmin; Mei, Guohua; Xue, Jianfeng; Zou, Jian

    2014-01-01

    To evaluate the technique and effectiveness of dual plating fixation for distal fibular comminuted fractures. Between November 2010 and November 2011, 16 patients with distal fibular comminuted fractures were treated, including 10 males and 6 females with an average age of 49.8 years (range, 35-65 years). All the patients had closed injury, which was caused by sprain in 9 cases, by traffic accident in 5 cases, and by falling in 2 cases. The average interval from injury to admission was 8 hours (range, 1-48 hours). Routine X-ray and CT scan were taken for confirmation of classification and involvement. According to Weber classification system, 11 cases were rated as type A, and 5 as type B; 5 cases had bimalleolar fractures with medial malleolar fracture, and 2 cases had trimalleolar fractures with posterior and medial malleolar fracture. Open reduction and dual plating fixation were performed after swelling was subsided. The X-ray films were taken during follow-up. The effectiveness was evaluated with visual analogue scale (VAS) and American Orthopaedic Foot and Ankle Society (AOFAS) hindfoot and ankle score system at last follow-up. The range of motion (ROM) of the ankle and complications were also been recorded. Delayed healing of incision occurred in 1 patient with diabetes, who was cured after changing dressing; primary healing was obtained in the other patients. Twelve patients were followed up 18 months on average (range, 12-24 months). Radiographic examination demonstrated the mean time of bone healing was 12 weeks (range, 10-14 weeks). No complication of implant failure, malunion, nonunion, or post-traumatic arthritis occurred during follow-up. The AOFAS hindfoot and ankle score was 79.6 +/- 6.5, and the VAS score was 1.3 +/- 1.5. The ROM of the ankle was (70.0 +/- 8.0) degrees of flexion and (84.0 +/- 5.1) degrees of extension. Dual plating fixation for distal fibular comminuted fractures can obtain a rigid stabilization with a low complication incidence

  7. Constructs of health belief and disabling distal upper limb pain.

    Science.gov (United States)

    Whibley, Daniel; MacDonald, Ross; Macfarlane, Gary J; Jones, Gareth T

    2016-10-01

    Musculoskeletal pain in the distal upper limb is common and is a cause of disability and healthcare consultation. At the time of presentation individuals reporting similar pain severities may report different levels of related disability. The biopsychosocial model proposes that health beliefs may help explain this difference. The aim of this cross-sectional study was to identify underlying constructs of health belief in those referred to physiotherapy with pain in the distal upper limb and investigate whether these constructs moderated the relationship between pain severity and extent of disability. Health beliefs were assessed using an instrument included in a questionnaire completed before randomisation to the Arm Pain Trial (ISRCTN79085082). Ordinal responses to statements about health beliefs were used to generate a polychoric correlation matrix. The output from this matrix was then used for Exploratory Factor Analysis to determine underlying constructs. The moderating influence of the identified health belief constructs was then tested using interaction terms in linear regression models. 476 trial participants contributed data, age range 18-85 (mean 48.8, SD 13.7), 54% female. Five health belief constructs were identified: beliefs about hereditary factors, beliefs about movement and pain, beliefs about locus of control, beliefs about the role of lifecourse/lifestyle factors, and beliefs about prognosis. The only health belief construct found to moderate the pain-disability relationship was beliefs about prognosis, with greater pessimism resulting in higher levels of disability at mild-to-moderate levels of pain severity (B -0.17, 95% CI -0.30, -0.036). This exploratory cross-sectional study identified five constructs of health belief from responses to a previously used set of statements investigating fear avoidance and illness beliefs in a clinical population with pain in the distal upper limb. Of these constructs, beliefs about prognosis were found to

  8. Fractures of the bilateral distal radius and scaphoid: a case report

    Directory of Open Access Journals (Sweden)

    Ozkan Korhan

    2008-03-01

    Full Text Available Abstract Introduction Bilateral fractures of the distal radius and scaphoid are extremely rare injuries. Case presentation A patient with bilateral comminuted, displaced distal fractures of the radius and bilateral fractures of the scaphoid was treated via internal fixation of the scaphoid fractures with Herbert screws and internal fixation of the distal radius fractures with locked volar plating. Conclusion Rigid internal fixation of distal radius and scaphoid fractures is mandatory to start early active rehabilitation of the wrist without the need for wrist immobilization with a plaster or external skeletal fixation.

  9. New findings of Late Glacial Etna pumice fall deposits in NE Sicily and implications for distal tephra correlations in the Mediterranean area

    Science.gov (United States)

    Del Carlo, Paola; Branca, Stefano; D'Oriano, Claudia

    2017-07-01

    Pumice fall deposits found in the Nebrodi Mountains and along the Alcantara River, close to the town of Randazzo (NE Sicily), have been studied to derive information about their volcanic source and age. The geochemical Na-alkaline affinity of juvenile products, benmoreite to trachyte, clearly indicates they originated from Etna volcano (Sicily). Major (EMPA) and trace (LA-ICP-MS) element compositional data on matrix glasses indicate that the investigated deposits have a compositional affinity consistent with the tephra deposits of unit D produced by the Ellittico caldera-forming eruptions between ca. 17 and 19 cal ka BP. Furthermore, their compositions correspond to the distal tephra equivalent found in some lacustrine and marine cores in Central Italy (Y-1, TM-11), Tyrrhenian Sea (Et-1; MD10α) and Adriatic Sea (Pal94-66-358; Pal94-8-353). We applied the principal components analysis (PCA), a statistical tool able to reduce the variability of a complex system, to compare the compositions of the proximal samples with the possible distal counterparts found in drill cores of the Mediterranean area. On the basis of northward dispersal of the studied deposits and their geochemical features, we suggest they represent a previously unreported sub-Plinian/Plinian eruption of Ellittico volcano producing medial-distal pumice fall deposits in the Nebrodi Mountains and close to Randazzo, named here the D1c layer. The discovery of these deposits helps solve the problem of distal correlations of the northerly dispersed tephra from Etna related to unit D, for which no definitive attribution with proximal units was given in previous studies. The results presented here add to the knowledge of the eruptive history of the volcano and contribute to expanding the proximal geochemical glass dataset for distal tephra correlation in the Mediterranean region during the Late Glacial period.

  10. Morphometric variation in Plio-Pleistocene hominid distal humeri.

    Science.gov (United States)

    Lague, M R; Jungers, W L

    1996-11-01

    The magnitude and meaning of morphological variation among Plio-Pleistocene hominid distal humeri have been recurrent points of disagreement among paleoanthropologists. Some researchers have found noteworthy differences among fossil humeri that they believe merit taxonomic separation, while others question the possibility of accurately sorting these fossils into different species and/or functional groups. Size and shape differences among fossil distal humeri are evaluated here to determine whether the magnitude and patterns of these differences can be observed within large-bodied, living hominoids. Specimens analyzed in this study have been assigned to various taxa (Australopithecus afarensis, A. africanus, A. anamensis, Paranthropus, and early Homo) and include AL 288-1m, AL 288-1s, AL 137-48a, AL 322-1, Gomboré IB 7594, TM 1517, KNM-ER 739, KNM-ER 1504, KMN-KP 271 (Kanapoi), and Stw 431. Five extant hominoid populations are sampled to provide a standard by which to consider differences found between the fossils, including two modern human groups (Native American and African American), one group of Pan troglodytes, and two subspecies of Gorilla gorilla (G.g. beringei, G.g. gorilla). All possible pairwise d values (average Euclidena distances) are calculated within each of the reference populations using an exact randomization procedure. This is done using both raw linear measurements as well as scale-free shape data created as ratios of each measurement to the geometric mean. Differences between each pair of fossil humeri are evaluated by comparing their d values to the distribution of d values found within each of the reference populations. Principal coordinate analysis and an unweighted pair group method with arithmetic averages (UPGMA) cluster analysis are utilized to further assess similarities and differences among the fossils. Finally, canonical variates analysis and discriminant analysis are employed using all hominoid samples in order to control for

  11. [Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].

    Science.gov (United States)

    Mori-Yoshimura, Madoka; Nishino, Ichizo

    2015-09-01

    Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused by a mutation in the GNE gene that catalyzes two rate-limiting reactions in cytosolic sialic acid synthesis. Oral treatment with sialic acid metabolite prevents muscle atrophy and weakness in a mouse GNE myopathy model and a global Phase III study is currently underway. In addition, a global patient registry of neuromuscular cases is widely accepted as a useful tool to obtain epidemiological data and bolster patient recruitment for further development of this treatment strategy.

  12. Distal anastomotic vein adjunct usage in infrainguinal prosthetic bypasses.

    Science.gov (United States)

    McPhee, James T; Goodney, Philip P; Schanzer, Andres; Shaykevich, Shimon; Belkin, Michael; Menard, Matthew T

    2013-04-01

    Single-segment saphenous vein remains the optimal conduit for infrainguinal revascularization. In its absence, prosthetic conduit may be used. Existing data regarding the significance of anastomotic distal vein adjunct (DVA) usage with prosthetic grafts are based on small series. This is a retrospective cohort analysis derived from the regional Vascular Study Group of New England as well as the Brigham and Women's hospital database. A total of 1018 infrainguinal prosthetic bypass grafts were captured in the dataset from 73 surgeons at 15 participating institutions. Propensity scoring and 3:1 matching was performed to create similar exposure groups for analysis. Outcome measures of interest included: primary patency, freedom from major adverse limb events (MALEs), and amputation free survival at 1 year as a function of vein patch utilization. Time to event data were compared with the log-rank test; multivariable Cox proportional hazard models were used to evaluate the adjusted association between vein cuff usage and the primary end points. DVA was defined as a vein patch, cuff, or boot in any configuration. Of the 1018 bypass operations, 94 (9.2%) had a DVA whereas 924 (90.8%) did not (no DVA). After propensity score matching, 88 DVAs (25%) and 264 no DVAs (75%) were analyzed. On univariate analysis of the matched cohort, the DVA and no DVA groups were similar in terms of mean age (70.0 vs 69.0; P = .55), male sex (58.0% vs 58.3%; P > .99), and preoperative characteristics such as living at home (93.2% vs 94.3%; P = .79) and independent ambulatory status (72.7% vs 75.7%; P = .64). The DVA and no DVA groups had similar rates of major comorbidities such as hypertension chronic obstructive pulmonary disease, diabetes mellitus, coronary artery disease, and dialysis dependence (P > .05 for all). Likewise, they had similar rates of distal origin grafts (13.6% vs 12.5%; P = .85), critical limb ischemia indications (P = .53), and prior arterial bypass (58% vs 47%; P = .08

  13. Amelogenesis imperfecta with distal renal tubular acidosis: A novel syndrome?

    Directory of Open Access Journals (Sweden)

    R A Misgar

    2017-01-01

    Full Text Available Amelogenesis imperfecta (AI is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.

  14. [Evaluation of surgical repair of distal biceps tendon ruptures].

    Science.gov (United States)

    Behounek, J; Hrubina, M; Skoták, M; Krumpl, O; Zahálka, M; Dvorák, J; Fucík, M

    2009-02-01

    PURPOSE OF THE STUDY To present the results of surgical repair of ruptures of the distal tendon of the biceps brachii muscle and thus show the adequacy of this treatment. MATERIAL Between 1987 and 2006, 19 patients had surgery for distal biceps tendon rupture. Only one side was affected in each patient. All patients were men between 28 and 69 years (average age, 47.5 years) at the time of injury (surgery). When the patients were evaluated at the end of 2007, 18 patients were included, because one died a year after surgery. METHODS The surgical repair always included a single-incision anatomical reattachment into the radial tuberosity. In 11 patients, a modified Mac Reynolds method with screw and washer fixation was used; in seven patients the insertion was fixed with Mitek anchors and, in one, it was sutured to the adjacent soft tissues. The average follow-up was 7 years (range, 1 to 20.5 years). The patients were evaluated for the cause of injury, their physical activity, age, dominance of the injured arm, surgical procedure and complications. RESULTS In 18 patients surgical repair was done early and, in one, at 16 days after injury. In all of them the tendon was detached from its site of insertion, but never torn. The intra-operative complications included, in one patient, bleeding owing to iatrogenic damage to a branch of the brachial artery, and difficult separation of the tendon due to its previous healed injury in another patient. Early post-operative complications included superficial skin necrosis in one patient and transient neurological deficit of the dorsal brand of the radial nerve and of the lateral cutaneous nerve of the forearm in two and one patient, respectively. The late complications were heterotropic ossification in three patients and screw migration in the one treated by the Mac Reynolds method. Excellent results were recorded in 11 patients (61 %), and good outcomes with a slight restriction of motion or muscle strength not limiting the

  15. Laparoscopic distal pancreatectomy: Up-to-date and literature review

    Science.gov (United States)

    Iacobone, Maurizio; Citton, Marilisa; Nitti, Donato

    2012-01-01

    Pancreatic surgery represents one of the most challenging areas in digestive surgery. In recent years, an increasing number of laparoscopic pancreatic procedures have been performed and laparoscopic distal pancreatectomy (LDP) has gained world-wide acceptance because it does not require anastomosis or other reconstruction. To date, English literature reports more than 300 papers focusing on LDP, but only 6% included more than 30 patients. Literature review confirms that LDP is a feasible and safe procedure in patients with benign or low grade malignancies. Decreased blood loss and morbidity, early recovery and shorter hospital stay may be the main advantages. Several concerns still exist for laparoscopic pancreatic adenocarcinoma excision. The individual surgeon determines the technical conduction of LDP, with or without spleen preservation; currently robotic pancreatic surgery has gained diffusion. Additional researches are necessary to determine the best technique to improve the procedure results. PMID:23082049

  16. Hand-arm vibration syndrome with distal brachial artery occlusion

    Directory of Open Access Journals (Sweden)

    Vladyslava Bazylevska

    2017-01-01

    Full Text Available Abstract             Hand-arm vibration syndrome (HAVS is a complex disorder of the peripheral extremities that is associated with occupational or recreational exposure to hand-transmitted vibration. Digital artery occlusion in HAVS is a common finding; however, proximal involvement is less likely.  We present a case of HAVS with the initial presentation of acute limb ischemia and with thrombus burden extending from the distal brachial artery and into the ulnar and radial arteries. To our knowledge, no case of HAVS syndrome of similar severity has been previously described. This case emphasizes the potential dangers of HAVS and the necessity for proper prophylactic interventions at the workplace.

  17. Fernandez osteotomy of radio distal with mal united fracture

    International Nuclear Information System (INIS)

    Garcia Herrera, Alvaro; Bocanegra, Sergio; Suarez, Fabio

    2003-01-01

    We review prospectively our experience in the military hospital in Bogota, Colombia, with the opening-wedge osteotomy for the treatment of a mal united fracture of the distal end of the radius in fifty-six consecutive patients from 1990 to 2002. The indications for operation were pain predominantly in the radio-ulnar joint and functional limitation with grip strength loss. Preoperative radiographs revealed an average ulnar inclination of 14 degrees, an average ulnar variance of four millimeters, and increased dorsal tilt (colles deformity) that averaged 28 degrees. All patients had limited function. The average grip strength was a force of fifteen kilograms compared with a force of thirty-one kilograms in the contralateral hand. Postoperatively, all of the patients had substantial improvement in function, relief of pain and grip strength increased. The functional results were rated as very good in eleven patients, good in thirty-six, fair in nine

  18. Sarcoidosis: radiographic manifestations in the nails and distal phalanges

    International Nuclear Information System (INIS)

    Albers, Brittany K.; Garner, Hillary W.; Sluzevich, Jason C.

    2016-01-01

    Sarcoidosis is a granulomatous disease which can affect multiple organ systems. Clinical and radiologic manifestations depend on the organ system involved and the chronicity of disease. Nail involvement in sarcoidosis is rare, but is clinically relevant as it indicates chronic systemic disease. Nail abnormalities can be identified radiographically, and when seen in patients with known or suspected sarcoidosis, should prompt careful evaluation of the underlying bone for osseous involvement. We describe a case of sarcoidosis with radiographic findings in the nails and distal phalangeal tufts, which were indicative of nail and osseous sarcoid involvement and strongly supported the presence of chronic systemic disease. Although the nail findings resolved clinically and on radiographs after treatment, the osseous findings showed only minimal improvement. To our knowledge, the radiographic findings of nail sarcoidosis have not been previously addressed in the literature. (orig.)

  19. Sarcoidosis: radiographic manifestations in the nails and distal phalanges

    Energy Technology Data Exchange (ETDEWEB)

    Albers, Brittany K.; Garner, Hillary W. [Mayo Clinic, Department of Radiology, Jacksonville, FL (United States); Sluzevich, Jason C. [Mayo Clinic, Department of Dermatology, Jacksonville, FL (United States)

    2016-05-15

    Sarcoidosis is a granulomatous disease which can affect multiple organ systems. Clinical and radiologic manifestations depend on the organ system involved and the chronicity of disease. Nail involvement in sarcoidosis is rare, but is clinically relevant as it indicates chronic systemic disease. Nail abnormalities can be identified radiographically, and when seen in patients with known or suspected sarcoidosis, should prompt careful evaluation of the underlying bone for osseous involvement. We describe a case of sarcoidosis with radiographic findings in the nails and distal phalangeal tufts, which were indicative of nail and osseous sarcoid involvement and strongly supported the presence of chronic systemic disease. Although the nail findings resolved clinically and on radiographs after treatment, the osseous findings showed only minimal improvement. To our knowledge, the radiographic findings of nail sarcoidosis have not been previously addressed in the literature. (orig.)

  20. Criteria for diagnosing distal radioulnar joint subluxation by computed tomography

    International Nuclear Information System (INIS)

    Nakamura, Ryogo; Horii, Emiko; Imaeda, Toshihiko; Nakao, Etsuhiro

    1996-01-01

    Bilateral wrist computed tomography (CT) was performed in 30 patients with suspected unilateral distal radioulnar joint (DRUJ) subluxation to evaluate dynamic DRUJ CT scanning with a straight elbow. Five CT criteria for diagnosing dorsovolar subluxation were examined. Maximum active supination and pronation on a conventional scanning table yielded satisfactory rotation (mean±SD, 119 ±29 ) at the DRUJ, thus permitting a dynamic diagnosis of DRUJ subluxation. The radioulnar line method and the congruity method frequently yielded false positive results compared with bilateral diagnosis and were unreliable. Modifications of these two methods achieved sensitivity and specificity comparable to the epicenter method. We recommend the modified radioulnar line method for diagnosing dorsovolar subluxation using unilateral CT because of its excellent sensitivity and specificity combined with ease of technique. (orig.). With 4 figs., 2 tabs

  1. Criteria for diagnosing distal radioulnar joint subluxation by computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, Ryogo [Department of Orthopedic Surgery, Branch Hospital of Nagoya University, School of Medicine, 1-1-20 Daikominami, Higashiku, Nagoya 461 (Japan); Horii, Emiko [Department of Orthopedic Surgery, Branch Hospital of Nagoya University, School of Medicine, 1-1-20 Daikominami, Higashiku, Nagoya 461 (Japan); Imaeda, Toshihiko [Department of Orthopedic Surgery, Branch Hospital of Nagoya University, School of Medicine, 1-1-20 Daikominami, Higashiku, Nagoya 461 (Japan); Nakao, Etsuhiro [Department of Orthopedic Surgery, Branch Hospital of Nagoya University, School of Medicine, 1-1-20 Daikominami, Higashiku, Nagoya 461 (Japan)

    1996-10-01

    Bilateral wrist computed tomography (CT) was performed in 30 patients with suspected unilateral distal radioulnar joint (DRUJ) subluxation to evaluate dynamic DRUJ CT scanning with a straight elbow. Five CT criteria for diagnosing dorsovolar subluxation were examined. Maximum active supination and pronation on a conventional scanning table yielded satisfactory rotation (mean{+-}SD, 119 {+-}29 ) at the DRUJ, thus permitting a dynamic diagnosis of DRUJ subluxation. The radioulnar line method and the congruity method frequently yielded false positive results compared with bilateral diagnosis and were unreliable. Modifications of these two methods achieved sensitivity and specificity comparable to the epicenter method. We recommend the modified radioulnar line method for diagnosing dorsovolar subluxation using unilateral CT because of its excellent sensitivity and specificity combined with ease of technique. (orig.). With 4 figs., 2 tabs.

  2. Dating young tephras - a distal solution to proximal controversy

    Science.gov (United States)

    Chen, Xuanyu; Blockley, Simon; Xu, Yigang; Menzies, Martin

    2017-04-01

    In-situ dating of young volcanic rocks (Liu, J.-Q., Müller, S., Wagner, M. and Menzies, M.A., 2016. Clarifying the distal to proximal tephrochronology of the Millennium (B-Tm) eruption, Changbaishan Volcano, northeast China. Quat. Geochronol., 33: 61-75. Ge, Q. and Wu, W., 2011. Climate during the Medieval Climate Anomaly in China. PAGES news, 19: 24-26. Sun, C., Plunkett, G., Liu, J., Zhao, H., Sigl, M., McConnell, J.R., Pilcher, J.R., Vinther, B., Steffensen, J.P. and Hall, V., 2014. Ash from Changbaishan Millennium eruption recorded in Greenland ice: Implications for determining the eruption's timing and impact. Geophys. Res. Lett., 2013GL058642.

  3. Distal Radius Quantitative Ultrasound Measurements and Related Factors

    Directory of Open Access Journals (Sweden)

    Özden Özyemiflçi Taflk›ran

    2011-04-01

    Full Text Available Aim: To investigate the quantitative ultrasound measurements and determine the related demographic, clinical and life style parameters. Material and Methods: A questionnaire including demographic features, systemic diseases, physical activity levels and other risk factors for osteoporosis was completed. Measurements of quantitative ultrasound (QUS were performed. Speed of sound (SOS (m/sec measurements were taken at the distal 1/3 radius of the nondominant extremity. Results: Among 2347 persons whom QUS measurements and questionnaires were completed, those aged 35 years and older and that were not taking antiosteoporotic treatment (N= 1867; 1654 women, 213 men were included for the analysis. Mean age of the participants were 52.1±10.7 years and mean SOS scores were 4142.8±185.8 m/sec. The variables that were statistically significant in either independent samples t test or analysis of variance were put in the linear regression analysis. In women, age, years since menopause and duration of lactation were independent predictors for SOS scores (constant= 4367.9 m/sec, age B: -3.8, ß: -0.197, p: 0.01; years since menopause: B: -3.9, ß: -0.211, p: 0.006; duration of lactation B: -0.4, ß: -0.086, p: 0.037. In men, age and level of education affected SOS scores independently (constant= 4271.3 m/sec, age B: -3.8, ß: -0.277, p: 0.001; level of education: B: 18.8, ß: 0.144, p: 0.036. Conclusion: Increasing age is associated with decrements in speed of sound measured by quantitative ultrasound at distal radius. It is important to give education about preventive measures on bone metabolism, especially during the lactation period. (Turkish Journal of Osteoporosis 2011;17:1-5

  4. [Tibiotalocalcaneal arthrodesis using a distally introduced femur nail (DFN)].

    Science.gov (United States)

    Grass, René

    2005-10-01

    Simultaneous arthrodesis of ankle and subtalar joints and, at the same sitting, correction of axial malalignment of hindfoot, treatment of bony defects and of sequelae of circulatory disturbances after multiple previous interventions. Internal stabilization with a short distal femur nail. Restitution of a pain-free weight bearing. Failure of arthrodesis of ankle and subtalar joint causing pain in patients with severely altered bone structures particularly at the level of the talar dome. Malalignment of hind- and/or forefoot after previous arthrodesis of ankle and subtalar joint. Failure of conservative therapy in both above-enumerated conditions. Poor skin or soft-tissue conditions. Reflex sympathetic dystrophy. Acute osteitis/osteomyelitis. Posterolateral approach. Resection of the articular cartilage and the areas of sclerosis of the ankle and of the posterior facet of the subtalar joint. Interposition of bone grafts harvested from the iliac crest. Correction of malalignment of hind- and forefoot. Locked nailing with a short distal femur nail. Fitting of a flexible custom-made arthrodesis boot; weight bearing in boot not exceeding half of body weight until the 8th week. Gait training. After 12 weeks wearing of normal shoes. Radiographs after 6 and 12 weeks. Between February 1, 2002 and September 1, 2003 this technique was performed on 18 feet in 17 patients (three women, 14 men, average age 53 years [38.9-73.7 years]). Average duration of follow-up: 1.2 years (0.6-2.1 years). The goal of surgery was reached in all patients. Subjective assessment: 14 times good, three times satisfactory. Four complications: one loss of nail purchase, one dislocation of locking screw, one breakage of locking bolt, one prolonged bone healing.

  5. Distal tibial fractures: evaluation of different fixation techniques.

    Science.gov (United States)

    Jöstl, Julian; Tiefenböck, Thomas Manfred; Hofbauer, Marcus; Winnisch, Markus; Lang, Nikolaus; Hajdu, Stefan; Sarahrudi, Kambiz

    2017-03-01

    The purpose of this study was the comparison of the most commonly used surgical techniques (external fixation, intramedullary nailing, and plate fixation) for the treatment of distal tibial fractures (AO/OTA classification 42-A, B, C or 43-A, B1). A retrospective cohort study of patients who underwent surgical treatment for distal tibial fractures between 1992 and 2011 was performed. A total of 93 patients (52 male/41 female) met inclusion criteria. Statistically significant differences were found regarding the consolidation time of the intramedullary-nailing (147.32 ± 91.16 days) and the plate-fixation group (135.75 ± 110.75 days) versus the external-fixation group (163.12 ± 96.79 days; P = 0.001; P = 0.01). Significant differences were also observed in the range of motion (ROM) of the ankle joint in the intramedullary-nailing and plate-fixation group versus the ROM in the external-fixation group (P = 0.044; P = 0.025). The overall complication rate was 13/93 (14 %). Out of 66 patients treated with intramedullary nailing, 8 (12 %) suffered from complications. Out of the 15 patients treated with plate and 12 patients with external fixation, 2 (13 %) and 3 (25 %) showed complications, respectively. Our results demonstrate advantages in terms of shorter mobilization time and a better ROM of the ankle joint for intramedullary nailing and plate fixation compared with external fixation. Due to our results, we suggest internal fixation (intramedullary nailing or plate fixation) whenever patient's condition and the local fracture situation allow it.

  6. Repair of the torn distal biceps tendon by endobutton fixation

    Directory of Open Access Journals (Sweden)

    Ravi K Gupta

    2012-01-01

    Full Text Available Background: A number of techniques have been described to reattach the torn distal biceps tendon to the bicipital tuberosity. We report a retrospective analysis of single incision technique using an endobutton fixation in sports persons. Materials and Methods: The present series include nine torn distal biceps tendons in eight patients, fixed anatomically to the radial tuberosity with an endobutton by using a single incision surgical technique; seven patients had suffered the injuries during contact sports. The passage of the endobutton was facilitated by using a blunt tipped pin in order to avoid injury to the posterior interosseous nerve. The patients were evaluated by Disabilities of the Arm, Shoulder and Hand (DASH score and Mayo elbow score. Results: The average age of the patients was 27.35 years (range 21-42 years. Average follow-up was 41.5 months (range 24-102 months. The final average flexion extension arc was 0°-143°, while the average pronation and supination angles were 77° (range 70°-82° and 81° (range 78°-85°, respectively at the last followup. All the patients had a Disabilities of the Arm, Shoulder and Hand (DASH score of 0 and a Mayo elbow score of 100 each. All the seven active sports persons were able to get back to their respective game. There was no nerve injury or any other complication. Conclusions: The surgical procedure used by us is a simple, safe and reproducible technique giving minimal morbidity and better cosmetic results.

  7. Fractures of the distal radius. Current concepts for treatment.

    Science.gov (United States)

    Broos, P L; Fourneau, I A; Stoffelen, D V

    2001-06-01

    The authors review the treatment of fractures of the distal radius, based on their experience and from data in the literature. The choice of a treatment for any given fracture must take into account first of all the stability of the fracture. The best results are achieved in stable fractures. Only minimally displaced distal radius fractures can be treated functionally. However, a plaster cast for one week is indicated for the comfort of the patient. In displaced but stable fractures both closed reduction and percutaneous fixation are indicated. In case of closed reduction, the plaster cast should be applied for 5 to 6 weeks with an above-elbow cast for 3 weeks. Percutaneous fixation gives the best results in extraarticular fractures in younger patients. Because of its simplicity however, it should not be ignored in the elderly osteoporotic patients. In the authors' experience, both techniques were only used for extraarticular fractures. Good and excellent results were found in the closed reduction and plaster cast group in 74% of the patients; the Kapandji technique gave 75% good and excellent results. These results are in line with other findings which show that, for simple fracture types, the Kapandji technique and closed reduction seem to give similar results. External fixation is widely used for intra-articular comminuted fractures. Dynamic external fixation does not show any advantage over static devices. Additional K-wires or bone grafting may be necessary. External fixation gives superior results to plate and screw fixation. Internal fixation should be reserved for fractures with ventral comminution or severe displacement with unacceptable reduction by closed or minimally invasive techniques.

  8. Medical expulsive therapy for distal ureteric stones: tamsulosin versus silodosin.

    Science.gov (United States)

    Imperatore, Vittorio; Fusco, Ferdinando; Creta, Massimiliano; Di Meo, Sergio; Buonopane, Roberto; Longo, Nicola; Imbimbo, Ciro; Mirone, Vincenzo

    2014-06-30

    To compare the efficacy and safety of tamsulosin and silodosin in the context of medical expulsive therapy (MET) of distal ureteric stones. Observational data were collected retrospectively from patients who received silodosin (N = 50) or tamsulosin (N = 50) as MET from January 2012 to January 2013. Inclusion criteria were: patients aged ≥ 18 years with a single, unilateral, symptomatic, radiopaque ureteric stone of 10 mm or smaller in the largest dimension located between the lower border of the sacroiliac joint and the vesico-ureteric junction. Stone expulsion rate, stone expulsion time, number of pain episodes, need for analgesics use, incidence of side effects were compared. Stone-expulsion rate in the silodosin and in the tamsulosin groups were 88% and 82%, respectively (p not significant). Mean expulsion times were 6.7 and 6.5 days in the silodosin and tamsulosin group, respectively (p not significant). Mean number of pain episodes were 1.6 and 1.7 in the silodosin and tamsulosin group, respectively (p not significant). The mean number of analgesic requirement was 0.84 and 0.9 for the silodosin and tamsulosin group, respectively (p not significant). Overall, incidence of side effects was similar in both groups. Patients taking silodosin experienced an higher incidence of retrograde ejaculation but a lower incidence of side effects related to peripheral vasodilation when compared to patients taking tamsulosin. Subgroup analysis demonstrated significantly lower mean expulsion times and pain episodes in patients with stones ≤ 5 mm in both groups. Tamsulosin and silodosin are equally effective as MET for distal ureteric stones sized 10 mm or smaller. MET with silodosin is associatd with a lower incidence of side effects related to peripheral vasodilation but an higher incidence of retrograde ejaculation when compared to tamsulosin.

  9. Medical expulsive therapy for distal ureteric stones: tamsulosin versus silodosin

    Directory of Open Access Journals (Sweden)

    Vittorio Imperatore

    2014-06-01

    Full Text Available Objectives: To compare the efficacy and safety of tamsulosin and silodosin in the context of medical expulsive therapy (MET of distal ureteric stones. Patients and methods: Observational data were collected retrospectively from patients who received silodosin (N = 50 or tamsulosin (N = 50 as MET from January 2012 to January 2013. Inclusion criteria were: patients aged ≥ 18 years with a single, unilateral, symptomatic, radiopaque ureteric stone of 10 mm or smaller in the largest dimension located between the lower border of the sacroiliac joint and the vesico-ureteric junction. Stone expulsion rate, stone expulsion time, number of pain episodes, need for analgesics use, incidence of side effects were compared. Results: Stone-expulsion rate in the silodosin and in the tamsulosin groups were 88% and 82%, respectively (p not significant. Mean expulsion times were 6.7 and 6.5 days in the silodosin and tamsulosin group, respectively (p not significant. Mean number of pain episodes were 1.6 and 1.7 in the silodosin and tamsulosin group, respectively (p not significant. The mean number of analgesic requirement was 0.84 and 0.9 for the silodosin and tamsulosin group, respectively (p not significant. Overall, incidence of side effects was similar in both groups. Patients taking silodosin experienced an higher incidence of retrograde ejaculation but a lower incidence of side effects related to peripheral vasodilation when compared to patients taking tamsulosin. Subgroup analysis demonstrated significantly lower mean expulsion times and pain episodes in patients with stones ≤ 5 mm in both groups. Conclusions: Tamsulosin and silodosin are equally effective as MET for distal ureteric stones sized 10 mm or smaller. MET with silodosin is associatd with a lower incidence of side effects related to peripheral vasodilation but an higher incidence of retrograde ejaculation when compared to tamsulosin.

  10. Minimally invasive distal pancreatectomy for PNETs: laparoscopic or robotic approach?

    Science.gov (United States)

    Zhang, Jiaqiang; Jin, Jiabin; Chen, Shi; Gu, Jiangning; Zhu, Yi; Qin, Kai; Zhan, Qian; Cheng, Dongfeng; Chen, Hao; Deng, Xiaxing; Shen, Baiyong; Peng, Chenghong

    2017-05-16

    The most effective and radical treatment for pancreatic neuroendocrine tumors (PNETs) is surgical resection. Minimally invasive surgery has been increasingly used in pancreatectomy. Initial results in robotic distal pancreatectomy (RDP) have been encouraging. Nonetheless, data comparing outcomes of RDP with those of laparoscopic distal pancreatectomy (LDP) in treating PNETs are rare. The aim of this study was to compare the safety and efficacy of RDP and LDP for PNETs. From September 2010 to January 2017, operative parameters and perioperative outcomes in an initial experience with 43 consecutive patients undergoing RDP were collected and compared with those in 31 patients undergoing LDP. Patients undergoing RDP and LDP demonstrated equivalent age, sex, ASA score, tumor location and tumor size. Operating time, length of resected pancreas, postoperative length of hospital stay and rates of conversion to open, pancreatic fistula, transfusion and reoperation were not statistically different. Patients in the RDP group were associated with significantly higher overall (79.1 vs. 48.4 %, P = 0.006) and Kimura spleen preservation rates (72.1 vs. 16.1%, P < 0.001) and had reduced risk of excessive blood loss (50 vs. 200mL, P < 0.001). Oncological outcomes in this series were superior for the RDP group with more lymph node harvest for G2 and G3 PNETs (3.5 vs. 2, P = 0.034). Both RDP and LDP are efficacious and safe methods in treating PNETs located in the body or tail of pancreas. Robotic approach offers advantages with less intraoperative blood loss, higher spleen preservation rate and more lymph node harvest. It may be sensible to choose RDP for patients who fit indications for scheduled spleen preservation.

  11. The morphology of Oreopithecus bambolii pollical distal phalanx.

    Science.gov (United States)

    Almécija, Sergio; Shrewsbury, Marvin; Rook, Lorenzo; Moyà-Solà, Salvador

    2014-04-01

    Oreopithecus bambolii is a Late Miocene ape from Italy, first described in the late 19th century. Its interpretation is still highly controversial, especially in reference to its hand proportions and thumb morphology. In this study, the authors provide detailed descriptions of the available Oreopithecus pollical distal phalanx (PDP) specimens, as well as bivariate and multivariate morphometric analyses in comparison with humans, extant apes, selected anthropoid monkeys, and available Miocene PDP specimens. The multivariate results reveal two opposite poles on the hominoid PDP shape spectrum: on one side, a mediolaterally broad and dorsopalmarly short human PDP, and on the other side, the narrow and "conical" PDP of chimpanzees and orangutans. The authors contend that Oreopithecus exhibits intermediate PDP proportions that are largely primitive for hominoids because it shares morphological similarities with Proconsul. Furthermore, Oreopithecus displays a mediolaterally wide tuft for a hominoid, as well as a palmarly elevated attachment for a long tendon of a flexor muscle that is associated at its proximal edge with a proximal fossa and at its distal edge with an ungual fossa. These nonmetrical traits have been associated in humans with their capability to oppose and contact the proximal pads of the thumb and fingers, that is, pad-to-pad precision grasping. These traits reinforce previous studies that indicate a human-like thumb-to-hand length ratio compatible with pad-to-pad precision grasping in Oreopithecus. Although specific hand use is still unresolved in Oreopithecus, the results suggest enhanced manipulative skills (unrelated to stone tool-making) in this taxon relative to other (extant or fossil) hominoids. Copyright © 2014 Wiley Periodicals, Inc.

  12. [Retrograde intramedullary nailing for periprosthetic fractures of the distal femur].

    Science.gov (United States)

    Biber, R; Bail, H J

    2014-10-01

    Intramedullary stabilization of periprosthetic distal femoral fractures by interlocking nailing. Closed reduction by retrograde nail can be combined with the use of transmedullary support screws (TMS principle of Stedtfeld). Supracondylar fractures above stable knee arthroplasty (Rorabeck types I and II), femoral shaft fractures ipsilateral of stable hip and/or knee arthroplasty, contraindications for antegrade nailing Closed box design of femoral implant, intercondylar distance of the femoral component smaller than nail diameter, more than 40° flexion deficit of the knee, inability to place two bicortical distal interlocking screws. Relative contraindication: insufficient overlap with proximal implants Supine position and knee flexion of approximately 45°. Fluoroscopy should be possible between the knee and hip. Longitudinal skin incision into the pre-existing scar over the patellar tendon which is then split. The nail entry point is located in the intercondylar groove at the deepest point of Blumensaat's line, often predetermined by the femoral arthroplasty component. Reaming is rarely necessary. Transmedullary support screws may correct axial malalignment during nail insertion. Static interlocking in a direction from lateral to medial by the aiming device. Insertion of locking cap. Retrograde nailing normally allows full weight bearing. Range of motion does not need to be restricted. Out of 101 fractures treated between 2000 and 2013 with a Targon RF nail (Aesculap, Tuttlingen, Germany) 10 were periprosthetic, all were classified as Rorabeck type II and of these 6 fractures were metaphyseal and 4 were diaphyseal. In four cases proximal implants were present. The mean operative time for periprosthetic fracture fixation did not significantly differ from that for normal retrograde femoral nailing. There were no postoperative infections, fixation failures or delayed unions. There was one revision for secondary correction of maltorsion.

  13. Distal anterior inferior cerebellar artery syndrome after acoustic neuroma surgery.

    Science.gov (United States)

    Hegarty, Joseph L; Jackler, Robert K; Rigby, Peter L; Pitts, Lawrence H; Cheung, Steven W

    2002-07-01

    To define a clinicopathologic syndrome associated with persistent cerebellar dysfunction after acoustic neuroma (AN) excision. Case series derived from radiographic and clinical chart review. Tertiary referral center. In 12 patients with AN, persistent cerebellar dysfunction developed after AN removal. Each case demonstrated abnormality in the ipsilateral cerebellar peduncle on postoperative magnetic resonance imaging. Cerebellar function and ambulatory status over the first postoperative year. On magnetic resonance imaging scans, the extent of cerebellar peduncle infarcts was variable. It ranged from focal brain injury (2 cm) spanning the full thickness of the peduncle. Peduncular infarcts were associated with large tumor size (average 3.8 cm, range 2.0-5.5 cm diameter). The long-term functional outcomes (>1 yr) varied. Dysmetria was unchanged or improved in over half of the patients (6 of 11 patients). Gait recovered to normal or to preoperative levels in 5 patients. In the 6 patients with persistent impaired mobility, 2 had mild gait disturbance, 3 required regular use of a cane, and 1 has been dependent on a walker. One patient had sustained mild motor weakness. Three of 11 patients remained dependent on others for activities of daily living. Peduncle injury most likely stems from interruption of distal branches of the anterior inferior cerebellar artery (AICA). These small vessels are intimately related to the capsule of the tumor and may supply both the neoplasm and the brain parenchyma. It has long been recognized that interruption of the proximal segment of the AICA results in severe injury to the pons, with devastating neurologic sequelae. A limited AICA syndrome caused by loss of its distal ramifications seems a more plausible explanation for peduncular infarction than either venous insufficiency or direct surgical trauma.

  14. Three-dimensional analysis of osteophyte formation on distal radius following scaphoid nonunion.

    Science.gov (United States)

    Oura, Keiichiro; Moritomo, Hisao; Kataoka, Toshiyuki; Oka, Kunihiro; Murase, Tsuyoshi; Sugamoto, Kazuomi; Yoshikawa, Hideki

    2017-01-01

    The purposes of this study were to quantitatively analyze osteophyte formation of the distal radius following scaphoid nonunion and to investigate how fracture locations relate to osteophyte formation patterns. Three-dimensional surface models of the scaphoid and distal radius were constructed from computed tomographic images of both the wrists of 17 patients' with scaphoid nonunion. The scaphoid nonunions were classified into 3 types according to the location of the fracture line: distal extra-articular (n = 6); distal intra-articular (n = 5); and proximal (n = 6). The osteophyte models of the radius were created by subtracting the mirror image of the contralateral radius model from the affected radius model using a Boolean operation. The osteophyte locations on the radius were divided into 5 areas: styloid process, dorsal scaphoid fossa, volar scaphoid fossa, dorsal lunate fossa, and volar lunate fossa. Osteophyte volumes were compared among the areas and types of nonunion. The presence or absence of dorsal intercalated segment instability (DISI) deformity was also determined. The distal intra-articular type exhibited significantly larger osteophytes in the styloid process than the distal extra-articular type. Furthermore, the proximal type exhibited significantly larger osteophytes in the dorsal scaphoid fossa than the distal extra-articular type. Finally, the distal intra- and extra-articular types were more associated with DISI deformity and tended to have larger osteophytes in the lunate fossa than the proximal type. The pattern of osteophyte formation in the distal radius determined using three-dimensional computed tomography imaging varied among the different types of scaphoid nonunion (distal extra-articular, distal intra-articular, and proximal). The results of this study are clinically useful in determining whether additional resection of osteophytes or radial styloid is necessary or not during the treatment of the scaphoid nonunion. Copyright

  15. A distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytes

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    Lu Ying

    2004-04-01

    Full Text Available Abstract Background TGM1(transglutaminase 1 is an enzyme that crosslinks the cornified envelope of mature keratinocytes. Appropriate expression of the TGM1 gene is crucial for proper keratinocyte function as inactivating mutations lead to the debilitating skin disease, lamellar ichthyosis. TGM1 is also expressed in squamous metaplasia, a consequence in some epithelia of vitamin A deficiency or toxic insult that can lead to neoplasia. An understanding of the regulation of this gene in normal and abnormal differentiation states may contribute to better disease diagnosis and treatment. Methods In vivo requirements for expression of the TGM1 gene were studied by fusing various lengths of promoter DNA to a reporter and injecting the DNA into mouse embryos to generate transgenic animals. Expression of the reporter was ascertained by Western blotting and immunohistochemistry. Further delineation of a transcriptionally important distal region was determined by transfections of progressively shortened or mutated promoter DNA into cultured keratinocytes. Results In vivo analysis of a reporter transgene driven by the TGM1 promoter revealed that 1.6 kilobases, but not 1.1 kilobases, of DNA was sufficient to confer tissue-specific and cell layer-specific expression. This same region was responsible for reporter expression in tissues undergoing squamous metaplasia as a response to vitamin A deprivation. Mutation of a distal promoter AP1 site or proximal promoter CRE site, both identified as important transcriptional elements in transfection assays, did not prevent appropriate expression. Further searching for transcriptional elements using electrophoretic mobility shift (EMSA and transfection assays in cultured keratinocytes identified two Sp1 elements in a transcriptionally active region between -1.6 and -1.4 kilobases. While mutation of either Sp1 site or the AP1 site singly had only a small effect, mutation of all three sites eliminated nearly all the

  16. Randomized comparison of distal protection versus conventional treatment in primary percutaneous coronary intervention: the drug elution and distal protection in ST-elevation myocardial infarction (DEDICATION) trial

    DEFF Research Database (Denmark)

    Kelbaek, Henning; Terkelsen, Christian J; Helqvist, Steffen

    2008-01-01

    OBJECTIVES: The purpose of this study was to evaluate the use of distal protection during percutaneous coronary intervention (PCI) for ST-segment elevation myocardial infarction (STEMI) in native coronary vessels. BACKGROUND: Embolization of material from the infarct-related lesion during PCI may......: The routine use of distal protection by a filterwire system during primary PCI does not seem to improve microvascular perfusion, limit infarct size, or reduce the occurrence of MACCE....

  17. Dissecting the fission yeast regulatory network reveals phase-specific control elements of its cell cycle

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    Liu Liwen

    2009-09-01

    Full Text Available Abstract Background Fission yeast Schizosaccharomyces pombe and budding yeast Saccharomyces cerevisiae are among the original model organisms in the study of the cell-division cycle. Unlike budding yeast, no large-scale regulatory network has been constructed for fission yeast. It has only been partially characterized. As a result, important regulatory cascades in budding yeast have no known or complete counterpart in fission yeast. Results By integrating genome-wide data from multiple time course cell cycle microarray experiments we reconstructed a gene regulatory network. Based on the network, we discovered in addition to previously known regulatory hubs in M phase, a new putative regulatory hub in the form of the HMG box transcription factor SPBC19G7.04. Further, we inferred periodic activities of several less known transcription factors over the course of the cell cycle, identified over 500 putative regulatory targets and detected many new phase-specific and conserved cis-regulatory motifs. In particular, we show that SPBC19G7.04 has highly significant periodic activity that peaks in early M phase, which is coordinated with the late G2 activity of the forkhead transcription factor fkh2. Finally, using an enhanced Bayesian algorithm to co-cluster the expression data, we obtained 31 clusters of co-regulated genes 1 which constitute regulatory modules from different phases of the cell cycle, 2 whose phase order is coherent across the 10 time course experiments, and 3 which lead to identification of phase-specific control elements at both the transcriptional and post-transcriptional levels in S. pombe. In particular, the ribosome biogenesis clusters expressed in G2 phase reveal new, highly conserved RNA motifs. Conclusion Using a systems-level analysis of the phase-specific nature of the S. pombe cell cycle gene regulation, we have provided new testable evidence for post-transcriptional regulation in the G2 phase of the fission yeast cell cycle

  18. Radiographic diagnosis of scapholunate dissociation among intra-articular fractures of the distal radius: interobserver reliability

    NARCIS (Netherlands)

    Gradl, Gertraud; Neuhaus, Valentin; Fuchsberger, Thomas; Guitton, Thierry G.; Prommersberger, Karl-Josef; Ring, David; Wahegaonkar, Abhijeet L.; Shafritz, Adam B.; Garcia, Aida E.; Caputo, Andrew E.; Terrono, Andrew L.; Spoor, Andy B.; Eschler, Anica; Vochteloo, Anne J. H.; Beumer, Annechien; Barquet, Antonio; Kristan, Anze; van der Zwan, Arnard L.; Berner, Arne; Ilyas, Asif; Jubel, Axel; Sutker, Ben; Nolan, Betsy M.; Petrisor, Brad; Cross, Brian J.; Wills, Brian P. D.; Barreto, Camilo J. R.; Fernandes, Carlos H.; Swigart, Carrie; Zalavras, Charalampos; Goldfarb, Charles A.; Cassidy, Charles; Eaton, Charles; Wilson, Chris; Cheng, Christine J.; Wall, Christopher J.; Walsh, Christopher J.; Jones, Christopher M.; Garnavos, Christos; Klostermann, Cyrus; Kirkpatrick, D. Kay; Osei, Daniel A.; Rikli, Daniel A.; Wascher, Daniel C.; Polatsch, Daniel; Silva, Dario Mejia; Nelson, David L.; Kalainov, David M.; Ruchelsman, David; Hoffmann, David Victoria; Weiss, David; Eygendaal, Denise; van Deurzen, Derek F. P.; McKee, Desirae M.; Verbeek, Diederik O. F.; Hanel, Doug; Hutchinson, Douglas T.; Brilej, Drago; Harvey, Edward; Stojkovska Pemovska, Emilija; Calvo, Emilio; Hammerberg, Eric Mark; Hofmeister, Eric P.; Kaplan, F. Thomas D.; Suarez, Fabio; Beeres, Frank J. P.; Walter, Frank L.; Frykman, Gary K.; Pess, Gary M.; Kuzma, Gary R.; Dyer, George S. M.; Thomas, George; Kohut, Georges; Kraan, Gerald A.; DeSilva, Gregory; Della Rocca, Gregory J.; Lob, Guenter; Gadbled, Guillaume; Bamberger, H. Brent; Mc Cutchan, Hal; Goost, Hans; Kreder, Hans J.; Grünwald, Heinz; Broekhuyse, Henry; Kimball, Hervey L.; Durchholz, Holger; van der Heide, Huub; McGraw, Iain; Choueka, Jack; Forigua, Jaime E.; Nappi, James F.; Reid, James G.; Kellam, James; Boler, James M.; Biert, Jan; Fanuele, Jason C.; Tavakolian, Jason D.; Jones, Jedediah; Johnson, Jeff W.; Wolf, Jennifer Moriatis; Murachovsky, Joel; Scheer, Johan H.; Rueger, Johannes M.; Erickson, John M.; McAuliffe, John; Boretto, Jorge G.; Rubio, Jorge; Ortiz, Jose A.; Ribeiro Filho, Jose Eduardo Grandi; Di Giovanni, José Fernando; Izzi, Joseph A.; Conflitti, Joseph M.; Abzug, Joshua M.; Cagnone, Juan Carlos; Adams, Julie; Chivers, Karel; Lee, Kendrick; Eng, Kevin; Malone, Kevin J.; Erol, Konul; Ponsen, Kornelis J.; Kabir, Koroush; Jeray, Kyle; Mica, Ladislav; Brunton, Lance M.; Adolfsson, Lars E.; Weiss, Lawrence; Katolik, Leonid; Paz, Lior; Poelhekke, Lodewijk M. S. J.; Escobar, Luis Felipe Naquira; Campinhos, Luiz Augusto B.; Abdel-Ghany, Mahmoud I.; Richard, Marc J. Richard; Swiontkowski, Marc; Rizzo, Marco; Pirpiris, Marinis; Boyer, Martin; Richardson, Martin; Kastelec, Matej; Turina, Matthias; Soong, Maximillian; Wood, Megan M.; Baskies, Michael; Behrman, Michael; Nancollas, Michael; Prayson, Michael; Quell, Michael; Verhofstad, Michael; Grafe, Michael W.; Kessler, Michael W.; van den Bekerom, Michel P. J.; van de Sande, Michiel A. J.; Mckee, Mike; Patel, Milan M.; Merchant, Milind; Tyllianakis, Minos; Wiegand, Mischa Ralph; Waseem, Mohammad; Parnes, Nata; Wilson, Neil; Elias, Nelson; Shortt, Nicholas L.; Schep, Niels; Semenkin, Oleg M.; Henry, Patrick D. G.; Martineau, Paul A.; Jebson, Peter; Kloen, Peter; Brink, Peter R. G.; Schandelmaier, Peter; Blazar, Philip; Streubel, Philipp N.; Vial, Philippe; Choudhari, Pradeep; Inna, Prashanth; Costanzo, Ralph M.; de Bedout, Ramon; Hauck, Randy; Smith, Raymond Malcolm; Fricker, Renato M.; Omid, Reza; Buckley, Richard; Jenkinson, Richard; Hutchison, Richard L.; GIlbert, Richard S.; Page, Richard S.; Nelissen, Rob; Haverlag, Robert; Wagenmakers, Robert; Pesantez, Rodrigo; Klinefelter, Ryan; Calfee, Ryan P.; Moghtaderi, Sam; Spruijt, Sander; Kakar, Sanjeev; Kaplan, Saul; Duncan, Scott F.; Mitchell, Scott; Rowinski, Sergio; Dodds, Seth; Kennedy, Stephen A.; Westly, Stephen K.; Kronlage, Steve; Beldner, Steven; McCabe, Steven J.; Rhemrev, Steven J.; Gosens, Taco; Baxamusa, Taizoon; Apard, Thomas; Dienstknecht, Thomas; Varecka, Thomas F.; Hughes, Thomas; Mittlmeier, Thomas; Pillukat, Thomas; Wright, Thomas; Havenhill, Timothy G.; Omara, Timothy; Siff, Todd; Giordano, Vincenzo; Hammert, Warren C.; Satora, Wojciech

    2013-01-01

    To evaluate the reliability and accuracy of diagnosis of scapholunate dissociation (SLD) among AO type C (compression articular) fractures of the distal radius. A total of 217 surgeons evaluated 21 sets of radiographs with type C fractures of the distal radius for which the status of the

  19. Distal and Proximal Vision: A Multi-Perspective Research in Sociology of Education

    Science.gov (United States)

    Giancola, Orazio; Viteritti, Assunta

    2014-01-01

    Drawing inspiration from the research conducted in Italian schools involved in the reform process, the article proposes to investigate two visions in the research on Sociology of Education: one distal and the other proximal. The distal vision is offered by quantitative research nowadays supported by extensive public funding and framed as…

  20. Clinical and non-clinical aspects of distal radioulnar joint instability

    NARCIS (Netherlands)

    Wijffels, M.; Brink, P.R.G.; Schipper, I.

    2012-01-01

    Untreated distal radioulnar joint (DRUJ) injuries can give rise to long lasting complaints. Although common, diagnosis and treatment of DRUJ injuries remains a challenge. The articulating anatomy of the distal radius and ulna, among others, enables an extensive range of forearm pronosupination